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 CROCCP2 0 broad.mit.edu 37 1 16958833 16958833 + RNA SNP T T A rs28687450 by1000genomes TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr1:16958833T>A ENST00000412962.1 - 0 74 TCTGCTTCTGTAGACGCTTCA 0.587000 3 41 0 0 0.000248 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218293 134218293 + Missense_Mutation SNP A A C TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr10:134218293A>C ENST00000305233.5 + 2 348 c.289A>C c.(289-291)Acc>Ccc p.T97P PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 97 Pro-rich. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCCGAGACCACCCGCCCCGA 0.756000 6 9 0 0 0.001984 0 0 SNHG14 0 broad.mit.edu 37 15 25457124 25457124 + RNA SNP T T A TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr15:25457124T>A ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 GAAAGGTATCTGGAGGAGGCC 0.592000 13 36 0 0 0.001368 0 0 CACHD1 57685 broad.mit.edu 37 1 65119491 65119491 + Missense_Mutation SNP C C G TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr1:65119491C>G ENST00000371073.2 + 11 1591 c.1591C>G c.(1591-1593)Ccc>Gcc p.P531A CACHD1_ENST00000290039.5_Missense_Mutation_p.P480A|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 531 Cache 1. calcium ion transport integral to membrane 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 ATTGTCAGAGCCCCCACTTCA 0.353000 40 101 0 0 0.002522 0 0 VWF 7450 broad.mit.edu 37 12 6120922 6120922 + Silent SNP G G A TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr12:6120922G>A ENST00000261405.5 - 34 5957 c.5703C>T c.(5701-5703)acC>acT p.T1901T NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1901 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GGCAAGTCACGGTGTGGCACT 0.577000 3 39 0 0 0.000248 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 3 47 0 0 0.004672 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790942 133790942 + Missense_Mutation SNP T T C TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr11:133790942T>C ENST00000321016.8 - 18 2908 c.2678A>G c.(2677-2679)gAc>gGc p.D893G IGSF9B_ENST00000533871.2_Missense_Mutation_p.D893G Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 893 integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GTTCTCCTCGTCCGACTGGCG 0.647000 25 50 0 0 0.004656 0 0 TIFAB 497189 broad.mit.edu 37 5 134785451 134785451 + Missense_Mutation SNP A A G TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr5:134785451A>G ENST00000537858.1 - 2 379 c.179T>C c.(178-180)cTg>cCg p.L60P NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 60 FHA. breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTAGGGCTCCAGGGACAGGTG 0.667000 3 70 0 0 0.004672 0 0 NDUFV2 4729 broad.mit.edu 37 18 9126840 9126840 + Silent SNP A A G TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr18:9126840A>G ENST00000400033.1 + 8 717 c.600A>G c.(598-600)acA>acG p.T200T RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Silent_p.T197T|RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA P19404 NDUV2_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 197 cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|lung(4)|ovary(1)|stomach(1) 7 NADH(DB00157) AGGATTTGACAGCTAAGGATA 0.333000 7 145 0 0 0.003080 0 0 UBR4 23352 broad.mit.edu 37 1 19473374 19473374 + Missense_Mutation SNP G G A TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr1:19473374G>A ENST00000375267.2 - 52 7753 c.7750C>T c.(7750-7752)Cgc>Tgc p.R2584C UBR4_ENST00000375217.2_Missense_Mutation_p.R2584C|UBR4_ENST00000375254.3_Missense_Mutation_p.R2584C|UBR4_ENST00000375226.2_Missense_Mutation_p.R2595C Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2584 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTGTTGGGGCGCATGATGGCA 0.532000 5 178 0 0 0.000602 0 0 OR51G1 79324 broad.mit.edu 37 11 4945145 4945145 + Missense_Mutation SNP C C T TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr11:4945145C>T ENST00000321961.2 - 1 492 c.425G>A c.(424-426)tGt>tAt p.C142Y MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTGACAATACATGCAGGTGT 0.522000 15 30 0 0 0.004007 0 0 CHGB 1114 broad.mit.edu 37 20 5904106 5904106 + Missense_Mutation SNP G G T TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr20:5904106G>T ENST00000378961.4 + 4 1520 c.1316G>T c.(1315-1317)aGg>aTg p.R439M NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 439 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAAGAGAAAAGGTTCTTGGGT 0.547000 31 47 7.01153e-11 1.1596e-10 0.007291 1 0 GOSR2 9570 broad.mit.edu 37 17 45016025 45016025 + Missense_Mutation SNP C C T TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr17:45016025C>T ENST00000576910.2 + 5 473 c.397C>T c.(397-399)Cgg>Tgg p.R133W RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R180W|GOSR2_ENST00000439730.2_Missense_Mutation_p.R180W|GOSR2_ENST00000225567.4_Missense_Mutation_p.R180W|GOSR2_ENST00000393456.2_Missense_Mutation_p.R180W O14653 GOSR2_HUMAN golgi SNAP receptor complex member 2 180 cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport Golgi membrane|integral to membrane transporter activity kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(9;0.102) CACAGTGATGCGGCTCATCGA 0.493000 6 203 0 0 0.003080 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 6 6 0 0 0.001168 0 0 ACOT1 641371 broad.mit.edu 37 14 74004293 74004293 + Silent SNP C C T TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr14:74004293C>T ENST00000311148.4 + 1 476 c.168C>T c.(166-168)acC>acT p.T56T HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.T56T|HEATR4_ENST00000553558.1_Intron NM_001037161.1 NP_001032238.1 acyl-CoA thioesterase 1 endometrium(1)|large_intestine(1)|lung(2) 4 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) GCGCCGACACCCTTGGCGAGC 0.746000 3 10 0 0 0.004672 0 0 TACR3 6870 broad.mit.edu 37 4 104640780 104640780 + Missense_Mutation SNP C C A TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr4:104640780C>A ENST00000304883.2 - 1 193 c.53G>T c.(52-54)gGt>gTt p.G18V NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 18 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GGCGTCTGCACCCACGCCTCC 0.687000 13 21 1.05317e-09 1.67727e-09 0.002450 1 0 BOD1L1 259282 broad.mit.edu 37 4 13601157 13601157 + Missense_Mutation SNP A A G TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr4:13601157A>G ENST00000040738.5 - 10 7502 c.7367T>C c.(7366-7368)cTc>cCc p.L2456P NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2456 DNA binding TGCATTTATGAGGTGTAAAGT 0.468000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 78 0 0 0.004672 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799720 159799720 + Silent SNP G G T TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr1:159799720G>T ENST00000289707.5 + 2 254 c.105G>T c.(103-105)ctG>ctT p.L35L SLAMF8_ENST00000368104.4_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 35 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) CGGTGCTGCTGGTGGCAGCGC 0.612000 42 95 5.48756e-27 9.43861e-27 0.002852 1 0 ZNF724P 0 broad.mit.edu 37 19 23406086 23406086 + Nonsense_Mutation SNP G G A TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr19:23406086G>A ENST00000418100.1 - 4 1078 c.961C>T c.(961-963)Caa>Taa p.Q321* endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 TTCGAGGATTGGTTAAAAGCT 0.378000 4 9 0 0 0.000248 0 0 F8 2157 broad.mit.edu 37 X 154250785 154250785 + Nonsense_Mutation SNP G G A TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chrX:154250785G>A ENST00000360256.4 - 1 243 c.43C>T c.(43-45)Cga>Tga p.R15* NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 15 acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAGCAGAATCGCAAAAGGCAC 0.443000 4 112 0 0 0.000248 0 0 FAM194A 131831 broad.mit.edu 37 3 150398571 150398571 + Silent SNP T T C TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr3:150398571T>C ENST00000295910.6 - 8 1081 c.1029A>G c.(1027-1029)aaA>aaG p.K343K FAM194A_ENST00000491361.1_Silent_p.K197K NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 343 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 TTTGCAGGGCTTTTTCTTTTG 0.413000 3 87 0 0 0.004672 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 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 22 36 0 0 0.002299 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 78 0 0 0.001168 0 0 SREK1IP1 285672 broad.mit.edu 37 5 64023941 64023941 + Frame_Shift_Del DEL T T - TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr5:64023941delT ENST00000513458.4 - 4 438 c.271delA c.(271-273)ggfs p.R91fs NM_173829.3 NP_776190.1 Q8N9Q2 SR1IP_HUMAN SREK1-interacting protein 1 91 Lys-rich. mRNA processing|RNA splicing nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|ovary(1) 6 TACCttttccttttttttttc 0.264 3 5 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 3 5 --- --- --- --- SLC22A3 6581 broad.mit.edu 37 6 160868784 160868786 + In_Frame_Del DEL TGC TGC - TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr6:160868784_160868786delTGC ENST00000392145.1 + 10 1574_1576 c.1547_1549delTGC c.(1546-1551)att>a p.ML516del SLC22A3_ENST00000275300.2_In_Frame_Del_p.ML515del O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 515 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) GGCCTTGTGATGCTTTTGCCTGA 0.498 28 79 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 3 5 --- --- --- --- PIK3R5 23533 broad.mit.edu 37 17 8792478 8792479 + Frame_Shift_Ins INS - - T TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr17:8792478_8792479insT ENST00000447110.1 - 9 996_997 c.872_873insA c.(871-873)tagfs p.*291fs PIK3R5_ENST00000581552.1_Frame_Shift_Ins_p.*291fs|PIK3R5_ENST00000584803.1_Frame_Shift_Ins_p.*291fs 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 5 291 AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GGCTCCAGCTGTAGGTGTAGCA 0.594 11 17 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-ET-A2N0-01A-11D-A18F-08 TCGA-ET-A2N0-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a387cf69-7d0a-4a67-a17b-ea3f5260c8a3 c1e30374-fab3-4fd7-82cf-f02698811b91 g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 3 5 --- --- --- ---