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 TMC7 79905 broad.mit.edu 37 16 19070964 19070964 + Missense_Mutation SNP C C T TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr16:19070964C>T ENST00000569532.1 + 15 2384 c.2254C>T c.(2254-2256)Cgt>Tgt p.R752C TMC7_ENST00000304381.5_Intron|TMC7_ENST00000421369.3_Intron Q7Z402 TMC7_HUMAN transmembrane channel-like 7 0 integral to membrane 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 GGCCCAGCCGCGTCCAGCTTC 0.517000 6 10 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141016186 141016186 + Missense_Mutation SNP C C T TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr9:141016186C>T ENST00000277549.5 + 47 6906 c.4337C>T c.(4336-4338)tCt>tTt p.S1446F CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2190F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2253F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2251F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2250F|CACNA1B_ENST00000371372.1_Missense_Mutation_p.S2252F Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2252 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCCCCTGGCTCTCGAATTGGC 0.662000 17 25 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809422 48809422 + Silent SNP C C T rs149386954 byFrequency TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr2:48809422C>T ENST00000309835.3 + 1 1660 c.1650C>T c.(1648-1650)gcC>gcT p.A550A STON1-GTF2A1L_ENST00000309827.2_Silent_p.A550A|STON1_ENST00000406226.1_Silent_p.A550A|STON1_ENST00000404752.1_Silent_p.A550A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A550A|STON1-GTF2A1L_ENST00000405008.1_Silent_p.A550A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A550A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A550A stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCAACATGGCCTCATTGGCGC 0.468000 6 125 0 0 1 0 0 SUMO3 6612 broad.mit.edu 37 21 46233863 46233863 + Missense_Mutation SNP G G C rs13050872 by1000genomes TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr21:46233863G>C ENST00000411651.2 - 2 290 c.178C>G c.(178-180)Ctc>Gtc p.L60V SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000397898.3_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000332859.6_Intron P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 50 Ubiquitin-like. protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) CACACGGGGAGGCTCTGCGGG 0.657000 4 62 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 46 0 0 1 0 0 SNRNP48 154007 broad.mit.edu 37 6 7601664 7601664 + Missense_Mutation SNP G G C rs141422613 TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr6:7601664G>C ENST00000342415.5 + 5 561 c.502G>C c.(502-504)Gta>Cta p.V168L NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 168 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CTATGATTTCGTAGTTGAGGA 0.378000 34 60 0 0 1 0 0 KIF25 0 broad.mit.edu 37 6 168443303 168443303 + Missense_Mutation SNP G G T TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr6:168443303G>T ENST00000443060.2 + 9 1283 c.892G>T c.(892-894)Gcc>Tcc p.A298S KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Missense_Mutation_p.A298S Q9UIL4 KIF25_HUMAN kinesin family member 25 298 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CAGCCTTGCGGCCCTGGCAGG 0.662000 41 60 1.04594e-18 1.09575e-18 1 1 0 CLSTN2 64084 broad.mit.edu 37 3 140140038 140140038 + Missense_Mutation SNP G G A TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr3:140140038G>A ENST00000458420.3 + 5 899 c.709G>A c.(709-711)Gac>Aac p.D237N NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 237 Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GACCGCCTACGACTGTGGACA 0.517000 HNSCC(16;0.037) 11 157 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119243580 119243580 + Missense_Mutation SNP C C T rs146005919 byFrequency TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr11:119243580C>T ENST00000260187.2 - 2 905 c.611G>A c.(610-612)cGc>cAc p.R204H RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 204 cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) ACTGCCCTTGCGACCATAGTT 0.627000 6 77 0 0 1 0 0 OBP2A 29991 broad.mit.edu 37 9 138440527 138440527 + Missense_Mutation SNP T T C rs2590501 by1000genomes TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr9:138440527T>C ENST00000340780.3 + 5 469 c.427T>C c.(427-429)Tgg>Cgg p.W143R OBP2A_ENST00000539850.1_Intron|OBP2A_ENST00000371776.1_Intron|OBP2A_ENST00000342114.4_Missense_Mutation_p.L98S Q9NY56 OBP2A_HUMAN odorant binding protein 2A 0 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) GTCCCCACCTTGGCTCACCTG 0.597000 4 46 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47325354 47325354 + RNA SNP G G A rs4660360 by1000genomes TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr1:47325354G>A ENST00000505841.1 - 0 1175 NR_002788.2 CATCTGGAAAGGTAATGGGTT 0.438000 9 79 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9497560 9497560 + Missense_Mutation SNP C C T rs77839011 byFrequency TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr17:9497560C>T ENST00000352665.5 + 4 527 c.458C>T c.(457-459)gCa>gTa p.A153V WDR16_ENST00000396219.3_Missense_Mutation_p.A85V|WDR16_ENST00000299764.5_Missense_Mutation_p.A163V NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 153 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 GGCAGCCCTGCAGCCGGCCTC 0.493000 5 105 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 12 1 1 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1264418 1264418 + Missense_Mutation SNP C C G TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr11:1264418C>G ENST00000447027.1 + 31 6375 c.6317C>G c.(6316-6318)aCa>aGa p.T2106R RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2103R Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2103 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACACCGCCACAGTGCTGACC 0.622000 3 12 0 0 1 0 0