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 POLR1B 84172 broad.mit.edu 37 2 113300244 113300244 + Missense_Mutation SNP T T A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr2:113300244T>A ENST00000263331.5 + 1 753 c.173T>A c.(172-174)gTg>gAg p.V58E POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000417433.2_Missense_Mutation_p.V58E|POLR1B_ENST00000541869.1_Missense_Mutation_p.V96E|POLR1B_ENST00000409894.3_Missense_Mutation_p.V58E NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 58 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 GGCCTCGCGGTGCAGGTGAGC 0.677 4 7 --- --- --- --- FARP2 9855 broad.mit.edu 37 2 242373718 242373718 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr2:242373718G>A ENST00000264042.3 + 10 1183 c.1013G>A c.(1012-1014)gGc>gAc p.G338D FARP2_ENST00000373287.4_Missense_Mutation_p.G338D|FARP2_ENST00000545004.1_Missense_Mutation_p.G338D NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 338 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TTCAGCCGGGGCTCCTCCTTC 0.463 4 41 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155157233 155157233 + Missense_Mutation SNP T T A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr4:155157233T>A ENST00000357232.4 - 25 7205 c.7206A>T c.(7204-7206)aaA>aaT p.K2402N NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTGCATCACCTTTGTCTTTGG 0.428 6 95 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32063700 32063700 + Missense_Mutation SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr6:32063700C>T ENST00000375244.3 - 3 2131 c.1930G>A c.(1930-1932)Ggc>Agc p.G644S TNXB_ENST00000479795.1_Missense_Mutation_p.G644S|TNXB_ENST00000375247.2_Missense_Mutation_p.G644S P22105 TENX_HUMAN tenascin XB 644 EGF-like 16. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAGGTAGGGCCGGTGTAGCCT 0.687 8 11 --- --- --- --- MOGAT2 80168 broad.mit.edu 37 11 75438518 75438518 + Nonsense_Mutation SNP C C A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr11:75438518C>A ENST00000526712.1 + 2 836 c.63C>A c.(61-63)taC>taA p.Y21* MOGAT2_ENST00000198801.5_Nonsense_Mutation_p.Y103* Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 103 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) CTCGGAACTACATTGCGGGCT 0.632 3 33 --- --- --- --- HSPA8 3312 broad.mit.edu 37 11 122930969 122930969 + Missense_Mutation SNP G G T rs141156763 by1000genomes TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr11:122930969G>T ENST00000534624.1 - 4 695 c.419C>A c.(418-420)aCc>aAc p.T140N HSPA8_ENST00000227378.3_Missense_Mutation_p.T140N|HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.T140N|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.T140N NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 140 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CACAGCATTGGTAACAGTCTA 0.393 8 77 --- --- --- --- PRPF40B 25766 broad.mit.edu 37 12 50025308 50025308 + Missense_Mutation SNP C C T rs149751647 TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr12:50025308C>T ENST00000261897.1 + 2 676 c.125C>T c.(124-126)gCg>gTg p.A42V PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V|PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 48 Pro-rich. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCAATGGGGGCGCCACCACCA 0.612 14 50 --- --- --- --- IGHV1-58 28464 broad.mit.edu 37 14 107078510 107078510 + RNA SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr14:107078510C>T ENST00000390628.2 - 0 274 CCACTGCCAACGACGATCCAT 0.532 25 90 --- --- --- --- IVD 3712 broad.mit.edu 37 15 40707600 40707600 + Splice_Site SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr15:40707600G>A ENST00000249760.2 + 9 1222 c.879G>A c.(877-879)ggG>ggA p.G293G IVD_ENST00000479013.2_Splice_Site_p.G266G|IVD_ENST00000487418.2_Splice_Site_p.G296G NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 293 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) TTTCTGACAGGCTCATGCAAG 0.602 3 28 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10369613 10369613 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr17:10369613G>A ENST00000255381.2 - 4 435 c.325C>T c.(325-327)Cgt>Tgt p.R109C RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 109 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTGCGTAACGCTCTTTGAGG 0.458 3 56 --- --- --- --- ABCA7 10347 broad.mit.edu 37 19 1043361 1043361 + Silent SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr19:1043361C>T ENST00000263094.6 + 9 1050 c.819C>T c.(817-819)gcC>gcT p.A273A ABCA7_ENST00000433129.1_Silent_p.A273A|ABCA7_ENST00000435683.2_Silent_p.A135A NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 273 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGATTGGAGCCCTGGACAGCC 0.642 12 37 --- --- --- --- FAM217B 63939 broad.mit.edu 37 20 58519366 58519366 + Missense_Mutation SNP A A G TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr20:58519366A>G ENST00000358293.3 + 5 783 c.368A>G c.(367-369)gAt>gGt p.D123G FAM217B_ENST00000360816.3_Missense_Mutation_p.D123G|FAM217B_ENST00000469084.1_Intron NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 123 GAAGAAATTGATCCAGTTTAC 0.458 27 46 --- --- --- --- ARSE 415 broad.mit.edu 37 X 2856153 2856153 + Silent SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chrX:2856153G>A ENST00000545496.1 - 10 1638 c.1347C>T c.(1345-1347)ggC>ggT p.G449G ARSE_ENST00000540563.1_Silent_p.G379G|ARSE_ENST00000381134.3_Silent_p.G424G NM_001282628.1 NP_001269557.1 P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 424 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGGGCACCTCGCCGCCCGCCA 0.597 3 39 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145849150 145849151 + Frame_Shift_Ins INS - - CC TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr5:145849150_145849151insCC ENST00000296702.5 + 7 1280_1281 c.1242_1243insCC c.(1243-1245)cccfs p.P415fs TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.P394fs NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 415 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCATGATACATCCCCAGGTTGC 0.386 54 156 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605693 42605694 + Frame_Shift_Ins INS - - T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr22:42605693_42605694insT ENST00000359486.3 - 1 5754_5755 c.5618_5619insA c.(5617-5619)tatfs p.Y1873fs TCF20_ENST00000404876.1_Frame_Shift_Ins_p.Y174fs|TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Y1873fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1873 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CCTGCAGGCCATAGAGCCTGCC 0.446 8 195 --- --- --- ---