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 ANK1 286 broad.mit.edu 37 8 41530310 41530310 + Missense_Mutation SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr8:41530310G>A ENST00000396942.1 - 38 4741 c.4658C>T c.(4657-4659)gCg>gTg p.A1553V ANK1_ENST00000289734.7_Missense_Mutation_p.A1553V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1594V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1553V|ANK1_ENST00000396945.1_Missense_Mutation_p.A1553V|ANK1_ENST00000379758.2_Missense_Mutation_p.A1553V|ANK1_ENST00000352337.4_Missense_Mutation_p.A1553V P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1553 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCCGTGGCCGCCAAGGGGAT 0.622000 3 59 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba 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 4 49 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 5 91 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41599590 41599590 + Missense_Mutation SNP T T C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr19:41599590T>C ENST00000330436.3 + 6 887 c.887T>C c.(886-888)cTg>cCg p.L296P NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 296 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) ATGACCACCCTGAACCTCTTC 0.557000 3 118 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20169960 20169960 + RNA SNP G G A rs150674714 by1000genomes TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr15:20169960G>A ENST00000338912.5 - 0 311 CAGATCTCAGGCTGCTTAGCT 0.527000 5 456 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55525819 55525819 + Silent SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr19:55525819G>A ENST00000310373.3 - 8 1521 c.1494C>T c.(1492-1494)tgC>tgT p.C498C GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 0 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) TTGTTAGACCGCAGTGGGAGA 0.502000 4 147 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 3 100 0 0 1 0 0 TUBA3D 113457 broad.mit.edu 37 2 132235871 132235871 + Silent SNP C C T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr2:132235871C>T ENST00000321253.6 + 2 245 c.138C>T c.(136-138)gaC>gaT p.D46D NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 46 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GTGGCGGGGACGACTCCTTCA 0.562000 48 63 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175325475 175325475 + Missense_Mutation SNP A A T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr1:175325475A>T ENST00000367674.1 - 16 3806 c.3098T>A c.(3097-3099)aTc>aAc p.I1033N TNR_ENST00000263525.2_Missense_Mutation_p.I1033N NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1033 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix 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 Renal(580;0.146) GTTGGTGCTGATGGTGCCACT 0.498000 30 164 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 3 77 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033580 30033580 + Missense_Mutation SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr11:30033580G>A ENST00000328224.6 - 2 1879 c.646C>T c.(646-648)Cgc>Tgc p.R216C NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 216 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TACTCATTGCGCAAAGGGTCA 0.483000 4 101 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 3 85 0 0 1 0 0 TNIP1 10318 broad.mit.edu 37 5 150411907 150411907 + Missense_Mutation SNP C C T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr5:150411907C>T ENST00000389378.2 - 17 2405 c.1817G>A c.(1816-1818)cGa>cAa p.R606Q TNIP1_ENST00000518977.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000521591.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523200.1_Missense_Mutation_p.R542Q|TNIP1_ENST00000315050.7_Missense_Mutation_p.R606Q|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523338.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000520931.1_Missense_Mutation_p.R553Q NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 606 Pro-rich. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding p.R606Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTTGGATTTCGAACCCCTCC 0.512000 3 58 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79056079 79056079 + Missense_Mutation SNP G G T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr15:79056079G>T ENST00000388820.4 - 22 4912 c.4702C>A c.(4702-4704)Cac>Aac p.H1568N NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1568 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GTGCAGGGGTGGGTGTTGCAG 0.711000 3 32 1 1 1 1 0 LOH12CR1 118426 broad.mit.edu 37 12 12514275 12514275 + Missense_Mutation SNP T T C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr12:12514275T>C ENST00000314565.4 + 2 525 c.194T>C c.(193-195)cTt>cCt p.L65P LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.L46P NM_058169.3 NP_477517.1 Q969J3 L12R1_HUMAN loss of heterozygosity, 12, chromosomal region 1 65 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.0205) TTCCAGCCCCTTTTGAAAGGT 0.468000 3 153 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 4 79 0 0 1 0 0 PCDHB14 0 broad.mit.edu 37 5 140603736 140603736 + Missense_Mutation SNP C C A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr5:140603736C>A ENST00000239449.4 + 1 659 c.659C>A c.(658-660)cCg>cAg p.P220Q PCDHB14_ENST00000515856.2_Missense_Mutation_p.P67Q NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 220 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGATCCCCGCCCAAGTCT 0.478000 3 122 1 1 1 1 0 HCCS 3052 broad.mit.edu 37 X 11139095 11139095 + Missense_Mutation SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chrX:11139095G>A ENST00000321143.4 + 6 792 c.590G>A c.(589-591)cGa>cAa p.R197Q HCCS_ENST00000380763.3_Missense_Mutation_p.R197Q|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.R197Q NM_001122608.2|NM_001171991.2|NM_005333.4 NP_001116080.1|NP_001165462.1|NP_005324.3 P53701 CCHL_HUMAN holocytochrome c synthase 197 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 CCAAGGGCACGAATTCGTTCC 0.453000 11 244 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874711 24874711 + Missense_Mutation SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr10:24874711G>A ENST00000396432.2 - 26 4993 c.4507C>T c.(4507-4509)Ccc>Tcc p.P1503S NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1502 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GGTGGTGAGGGTTCTTCAGAA 0.473000 4 236 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128617 152128617 + Missense_Mutation SNP T T C rs12117644 TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr1:152128617T>C ENST00000316073.3 - 3 1022 c.958A>G c.(958-960)Agt>Ggt p.S320G NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 320 Gln-rich. S -> G (in dbSNP:rs12117644). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCCGTCTGACTGTAGTGGGAA 0.507000 8 937 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18029723 18029723 + Silent SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr17:18029723G>A ENST00000205890.5 + 5 4157 c.3819G>A c.(3817-3819)ccG>ccA p.P1273P NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1273 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCTATGGGCCGGAGCAGGTGC 0.622000 3 88 0 0 1 0 0 ZNF211 0 broad.mit.edu 37 19 58152518 58152518 + Missense_Mutation SNP T T C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr19:58152518T>C ENST00000544273.1 + 5 1027 c.700T>C c.(700-702)Ttt>Ctt p.F234L ZNF211_ENST00000420680.1_Missense_Mutation_p.F226L|ZNF211_ENST00000391703.3_Missense_Mutation_p.F161L|ZNF211_ENST00000347302.3_Missense_Mutation_p.F222L|ZNF211_ENST00000541801.1_Missense_Mutation_p.F213L|ZNF211_ENST00000254182.7_Missense_Mutation_p.F213L|ZNF211_ENST00000240731.4_Missense_Mutation_p.F235L|ZNF211_ENST00000299871.5_Missense_Mutation_p.F287L Q13398 ZN211_HUMAN zinc finger protein 211 222 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGCGGTGGCCTTTTACAGTGG 0.468000 3 97 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161491 43161491 + Missense_Mutation SNP C C T rs56056485 TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr21:43161491C>T ENST00000352483.2 - 9 2070 c.2006G>A c.(2005-2007)cGc>cAc p.R669H RIPK4_ENST00000544709.1_Missense_Mutation_p.R558H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R558H|RIPK4_ENST00000332512.3_Missense_Mutation_p.R621H Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 621 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GATGAGGATGCGGGCCACGCG 0.692000 4 231 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15710963 15710963 + Missense_Mutation SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr16:15710963G>A ENST00000396368.3 - 15 3229 c.3023C>T c.(3022-3024)gCg>gTg p.A1008V KIAA0430_ENST00000540441.2_Missense_Mutation_p.A843V|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A1005V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A1008V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A1005V NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1007 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 AACCTGGGGCGCAAATGTCTT 0.438000 3 68 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47030582 47030582 + Missense_Mutation SNP G G T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chrX:47030582G>T ENST00000377604.3 + 4 1099 c.357G>T c.(355-357)gaG>gaT p.E119D RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 119 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 aggaggaggaggatgaggagg 0.662000 3 36 0.115264 0.128824 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba 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 43 59 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111705 57111705 + Silent SNP G G A rs2926746 TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr12:57111705G>A ENST00000454682.1 - 3 3890 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 4 148 0 0 1 0 0 MATN3 4148 broad.mit.edu 37 2 20205863 20205863 + Silent SNP C C T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr2:20205863C>T ENST00000407540.3 - 2 494 c.432G>A c.(430-432)caG>caA p.Q144Q MATN3_ENST00000421259.2_Silent_p.Q144Q NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 144 VWFA. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTTCAGGGACTGCTTATCTG 0.567000 3 108 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57429071 57429071 + Missense_Mutation SNP G G C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr20:57429071G>C ENST00000371100.4 + 1 1303 c.751G>C c.(751-753)Ggc>Cgc p.G251R GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G251R|GNAS_ENST00000371102.4_Missense_Mutation_p.G251R|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.T187T|GNAS_ENST00000603534.1_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) ACAAGTCGACGGCAGCAGCCA 0.677000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 15 14 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000354792.5_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCAC 0.624 7 194 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85696234 85696235 + Frame_Shift_Ins INS - - T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr4:85696234_85696235insT ENST00000322366.6 - 28 4982_4983 c.4575_4576insA c.(4573-4578)gatgctfs p.DA1525fs WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.DA1525fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1525 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCTGTGAGCAGTTCAATAAAGT 0.297 34 46 --- --- --- --- RP11-579D7.4 0 broad.mit.edu 37 12 49183367 49183367 + RNA DEL G G - rs10711161 TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr12:49183367delG ENST00000549864.1 + 0 9 ccctgccccagccccagcccc 0.657 4 3 --- --- --- --- RP5-963E22.4 0 broad.mit.edu 37 20 61798880 61798881 + RNA INS - - C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr20:61798880_61798881insC ENST00000423020.1 - 0 188 ccccacctcagcccctcctcag 0.703 3 6 --- --- --- ---