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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 52 0 0 0.000157383 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 3 21 0 0 6.4e-05 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 3 2 6.4e-05 0.00129986 6.4e-05 1 0 RP13-996F3.4 0 broad.mit.edu 37 15 83014106 83014106 + Silent SNP T T C TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr15:83014106T>C ENST00000557886.1 - 6 576 c.477A>G c.(475-477)gtA>gtG p.V159V p.V159V(12) endometrium(6)|kidney(5)|prostate(1) 12 GTAGCTGCTCTACCTTAGATG 0.498000 4 5 0 0 0.000602214 0 0 ZNF43 7594 broad.mit.edu 37 19 21990727 21990727 + Missense_Mutation SNP T T G TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr19:21990727T>G ENST00000594012.1 - 7 2608 c.2094A>C c.(2092-2094)aaA>aaC p.K698N ZNF43_ENST00000595461.1_Missense_Mutation_p.K698N|ZNF43_ENST00000354959.4_Missense_Mutation_p.K704N|ZNF43_ENST00000598381.1_Missense_Mutation_p.K698N NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 704 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ATTTGTAGGGTTTCTCTCCAG 0.368000 11 64 0 0 0.000978159 0 0 FAM155A 728215 broad.mit.edu 37 13 108518740 108518740 + Missense_Mutation SNP C C T TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr13:108518740C>T ENST00000375915.2 - 1 343 c.205G>A c.(205-207)Gac>Aac p.D69N NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 69 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 tgctCCTTGTCCCGGGCCCGG 0.637000 19 35 0 0 0.00121646 0 0 INSR 0 broad.mit.edu 37 19 7122626 7122626 + Splice_Site SNP T T C TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr19:7122626T>C ENST00000341500.5 - 18 3531 c.3493_splice c.e18+1 p.G1164_splice INSR_ENST00000302850.5_Splice_Site_p.G1176_splice NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1176 Protein kinase. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGACGAACCTCCAATTTTGA 0.463000 3 100 0 0 6.4e-05 0 0 XIRP1 165904 broad.mit.edu 37 3 39230859 39230859 + Silent SNP T T G TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr3:39230859T>G ENST00000340369.3 - 2 306 c.78A>C c.(76-78)ccA>ccC p.P26P XIRP1_ENST00000396251.1_Silent_p.P26P|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 26 Interaction with VASP.|Poly-Pro. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGGCTGGGGGTGGAGGGAGGG 0.637000 4 26 0 0 0.000602214 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 50 0 0 6.4e-05 0 0 TTC12 54970 broad.mit.edu 37 11 113215033 113215033 + Missense_Mutation SNP C C T TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr11:113215033C>T ENST00000393020.1 + 13 1430 c.1025C>T c.(1024-1026)gCc>gTc p.A342V TTC12_ENST00000483239.2_Missense_Mutation_p.A348V|TTC12_ENST00000529221.1_Missense_Mutation_p.A342V|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Missense_Mutation_p.A342V Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 342 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) CATGACAGGGCCAGGCTGTTG 0.567000 35 66 0 0 0.000692331 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C C G rs115565146 by1000genomes TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr6:32725596C>G ENST00000435145.2 - 4 772 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CGAGGAAGATCAGCCCCAGCA 0.562000 3 11 0 0 6.4e-05 0 0 SALL3 27164 broad.mit.edu 37 18 76757214 76757214 + Silent SNP T T C TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr18:76757214T>C ENST00000536229.3 + 3 3889 c.3180T>C c.(3178-3180)acT>acC p.T1060T SALL3_ENST00000537592.2_Silent_p.T1265T|SALL3_ENST00000575389.2_Silent_p.T1193T Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) AAGCACGCACTGGCAGTAGCC 0.612000 6 161 0 0 0.00198382 0 0 NUDT8 254552 broad.mit.edu 37 11 67395569 67395569 + Missense_Mutation SNP C C G TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr11:67395569C>G ENST00000376693.2 - 4 568 c.559G>C c.(559-561)Gag>Cag p.E187Q NUDT8_ENST00000301490.4_3'UTR NM_001243750.1 NP_001230679.1 Q8WV74 NUDT8_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 8 187 mitochondrion hydrolase activity|metal ion binding endometrium(1)|lung(1)|prostate(1)|skin(1) 4 AGGGCAAACTCAGTGATGACA 0.662000 8 30 0 0 0.000274275 0 0 AP5B1 91056 broad.mit.edu 37 11 65547117 65547117 + Missense_Mutation SNP G G A TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr11:65547117G>A ENST00000532090.2 - 2 1057 c.847C>T c.(847-849)Cct>Tct p.P283S NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 226 Leu-rich. protein binding lung(1) 1 TGGGCCACAGGAGTGAGCAGA 0.682000 9 30 0 0 0.000274275 0 0 ZNF559 84527 broad.mit.edu 37 19 9452862 9452862 + Silent SNP A A G TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr19:9452862A>G ENST00000393883.2 + 6 1383 c.735A>G c.(733-735)gcA>gcG p.A245A ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.A165A|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Silent_p.A309A|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Silent_p.A245A|ZNF177_ENST00000605471.1_Intron NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 AATGTAAAGCATGTGGGAAAC 0.358000 11 52 0 0 0.000978159 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 13 40 0 0 0.00244969 0 0 TTF2 8458 broad.mit.edu 37 1 117624468 117624468 + Missense_Mutation SNP G G A TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr1:117624468G>A ENST00000369466.3 + 10 1846 c.1802G>A c.(1801-1803)gGa>gAa p.G601E NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 601 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) ATGGGCTTAGGAAAAACCCTG 0.403000 17 34 0 0 0.00074312 0 0 OR10A7 121364 broad.mit.edu 37 12 55614871 55614871 + Silent SNP C C T TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr12:55614871C>T ENST00000326258.1 + 1 63 c.63C>T c.(61-63)ccC>ccT p.P21P NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CAAACAACCCCGAGATGCAAG 0.373000 5 134 0 0 0.000602214 0 0 PVRL1 5818 broad.mit.edu 37 11 119547852 119547852 + Missense_Mutation SNP C C T TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr11:119547852C>T ENST00000264025.3 - 4 1341 c.811G>A c.(811-813)Gct>Act p.A271T PVRL1_ENST00000341398.2_Missense_Mutation_p.A271T|PVRL1_ENST00000340882.2_Missense_Mutation_p.A271T|PVRL1_ENST00000524510.1_5'UTR NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 271 Ig-like C2-type 2. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) TTAGCATCAGCTTTGCAGGTG 0.562000 5 54 0 0 0.00116845 0 0 MTR 4548 broad.mit.edu 37 1 237015822 237015822 + Splice_Site SNP A A T TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr1:237015822A>T ENST00000366577.5 + 17 2091 c.1695_splice c.e17-1 p.E566_splice MTR_ENST00000535889.1_Splice_Site_p.E566_splice NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 566 Pterin-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TTTTGCCAGGAAACATTACCT 0.383000 5 48 0 0 0.000602214 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102991301 102991301 + Silent SNP A A G TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr11:102991301A>G ENST00000375735.2 + 7 1269 c.1125A>G c.(1123-1125)ccA>ccG p.P375P DYNC2H1_ENST00000398093.3_Silent_p.P375P|DYNC2H1_ENST00000334267.7_Silent_p.P375P NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 375 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AATATAATCCATATACTGAGG 0.318000 41 215 0 0 0.00170553 0 0 ZNF226 7769 broad.mit.edu 37 19 44679858 44679858 + Missense_Mutation SNP A A G TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr19:44679858A>G ENST00000590089.1 + 7 810 c.443A>G c.(442-444)tAt>tGt p.Y148C ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.Y148C|ZNF226_ENST00000337433.5_Missense_Mutation_p.Y148C Q9NYT6 ZN226_HUMAN zinc finger protein 226 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) GATGAGAACTATATAGTAAAT 0.393000 3 32 0 0 0.00024832 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895497 42895497 + Frame_Shift_Del DEL G G - TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr4:42895497delG ENST00000399770.2 + 1 214 c.214delG c.(214-216)agfs p.E72fs NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 72 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 AGAAGGTGATGAGAATGAGAA 0.468 29 113 --- --- --- --- WHAMM 123720 broad.mit.edu 37 15 83485581 83485581 + Frame_Shift_Del DEL A A - TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr15:83485581delA ENST00000286760.4 + 3 1020 c.921delA c.(919-921)gtfs p.V307fs NM_001080435.1 NP_001073904.1 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi membranes and microtubules 307 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding endometrium(6)|large_intestine(5)|lung(1)|prostate(1) 13 AGGAGACAGTAAAAGCATTAG 0.363 2 4 --- --- --- --- ZNF629 23361 broad.mit.edu 37 16 30795747 30795747 + Frame_Shift_Del DEL G G - TCGA-EM-A22M-01A-11D-A17V-08 TCGA-EM-A22M-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c29f3295-8971-49b9-8398-b0e1f4912e2f 9f98823f-1528-433c-9aa7-cfdbb6732bd1 g.chr16:30795747delG ENST00000262525.4 - 2 264 c.57delC c.(55-57)ccfs p.P19fs NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) GAGCATCGTTGGGGCTCTGTT 0.687 2 4 --- --- --- ---