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 CTAGE5 4253 broad.mit.edu 37 14 39763206 39763206 + Missense_Mutation SNP G G A TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr14:39763206G>A uc001wvi.4 + 6 849 c.513G>A c.(511-513)atG>atA p.M171I CTAGE5_uc010tqe.1_Missense_Mutation_p.M128I|CTAGE5_uc001wuy.4_Missense_Mutation_p.M86I|CTAGE5_uc001wuz.4_Missense_Mutation_p.M154I|CTAGE5_uc001wva.4_Missense_Mutation_p.M137I|CTAGE5_uc001wvb.4_Missense_Mutation_p.M137I|CTAGE5_uc001wvc.4_Missense_Mutation_p.M111I|CTAGE5_uc001wve.1_Missense_Mutation_p.M142I|CTAGE5_uc001wvf.4_Missense_Mutation_p.M91I|CTAGE5_uc001wvg.4_Missense_Mutation_p.M166I|CTAGE5_uc001wvh.4_Missense_Mutation_p.M166I|CTAGE5_uc010amz.3_5'UTR|CTAGE5_uc001wvj.4_Missense_Mutation_p.M137I NM_001247989 NP_001234918 O15320 CTGE5_HUMAN Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA. 166 enzyme activator activity|protein binding CTAGE5/SIP1(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) GTTTCTAGATGGCGGATATTT 0.343000 44 59 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152329145 152329145 + Missense_Mutation SNP C C T TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr1:152329145C>T uc001ezw.4 - 2 1190 c.1117G>A c.(1117-1119)Ggc>Agc p.G373S AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 373 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTTGAGCCTGTTCTCCAT 0.468000 34 52 0 0 1 0 0 TRAPPC5 126003 broad.mit.edu 37 19 7747624 7747624 + Missense_Mutation SNP C C G TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr19:7747624C>G uc002mhi.1 + 1 555 c.485C>G c.(484-486)gCg>gGg p.A162G TRAPPC5_uc002mhj.1_Missense_Mutation_p.A162G|TRAPPC5_uc002mhk.1_Missense_Mutation_p.A162G|TRAPPC5_uc021unw.1_Missense_Mutation_p.A162G NM_001042462 NP_777554 Q8IUR0 TPPC5_HUMAN Homo sapiens trafficking protein particle complex 5 (TRAPPC5), transcript variant 3, mRNA. 162 vesicle-mediated transport endoplasmic reticulum guanylate cyclase activity|heme binding NS(1)|lung(2) 3 AAGGTCACGGCGCACTGGCAC 0.652000 6 6 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12382678 12382678 + Missense_Mutation SNP C C G TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr1:12382678C>G uc001atv.3 + 33 7931 c.7790C>G c.(7789-7791)gCt>gGt p.A2597G VPS13D_uc001atw.3_Missense_Mutation_p.A2597G|VPS13D_uc001atx.3_Missense_Mutation_p.A1785G|VPS13D_uc001aty.1_Missense_Mutation_p.A335G NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2597 protein localization p.A2597D(2) NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCAGAGCAAGCTAATGCTGCA 0.473000 29 49 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20489432 20489432 + RNA SNP G G A TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr15:20489432G>A uc001ytf.1 + 2 c.420G>A Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. GTCACTGAAGGACCAGATCAC 0.418000 7 128 0 0 1 0 0 MOB1A 55233 broad.mit.edu 37 2 74392437 74392437 + Missense_Mutation SNP G G A TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr2:74392437G>A uc002skh.4 - 3 511 c.317C>T c.(316-318)cCa>cTa p.P106L MOB1A_uc002ski.2_Missense_Mutation_p.P106L NM_018221 NP_060691 Q9H8S9 MOL1B_HUMAN Homo sapiens MOB kinase activator 1A (MOB1A), mRNA. 106 hippo signaling cascade metal ion binding|protein binding ACATTTGATTGGCTTTTTAAT 0.303000 5 9 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 26 37 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41021270 41021270 + Missense_Mutation SNP G G A TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr19:41021270G>A uc002ony.3 + 14 2904 c.2818G>A c.(2818-2820)Gtg>Atg p.V940M SPTBN4_uc002onx.3_Missense_Mutation_p.V940M|SPTBN4_uc002onz.3_Missense_Mutation_p.V940M|SPTBN4_uc010egx.3_5'UTR NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 940 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGTTCTGGACGTGAACCACAC 0.612000 3 14 0 0 1 0 0 UPK3A 7380 broad.mit.edu 37 22 45691583 45691583 + Missense_Mutation SNP A A G TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr22:45691583A>G uc003bfy.3 + 5 874 c.847A>G c.(847-849)Agc>Ggc p.S283G UPK3A_uc010gzy.3_Missense_Mutation_p.S162G NM_006953 NP_008884 O75631 UPK3A_HUMAN Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA. 283 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GGTGTATTCCAGCAAGCTCCA 0.637000 3 37 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88379615 88379615 + Frame_Shift_Del DEL A A - TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr12:88379615delA uc001tan.3 - 9 1432 c.1183delT c.(1183-1185)tgtfs p.C395fs C12orf50_uc001tam.1_Intron NM_152589 NP_689802 Q8NA57 CL050_HUMAN Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA. 0 p.S395L(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 CCACATCAACAAAGGACCTCA 0.488 33 62 --- --- --- --- CACNA1G 8913 broad.mit.edu 37 17 48653257 48653257 + Frame_Shift_Del DEL C C - TCGA-ET-A3BX-01A-11D-A19J-08 TCGA-ET-A3BX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81ac96ae-fa67-46a4-a969-cd269e0a45ea b5eda881-51a0-4255-bd6a-bbb070d97793 g.chr17:48653257delC uc002irk.1 + 7 1866 c.1494delC c.(1492-1494)cacfs p.H498fs CACNA1G_uc002iri.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irj.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irl.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irm.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irn.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002iro.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irp.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irq.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irr.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irs.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irt.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002iru.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irv.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irw.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irx.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002iry.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isg.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002ish.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isi.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002irz.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isa.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isd.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isb.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isc.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002ise.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isf.1_Frame_Shift_Del_p.H411fs NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 498 Poly-His. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGcaccaccaccaccaccatc 0.706 2 4 --- --- --- ---