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 CELSR1 9620 broad.mit.edu 37 22 46760065 46760065 + Missense_Mutation SNP C C A TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr22:46760065C>A ENST00000262738.3 - 34 8862 c.8863G>T c.(8863-8865)Gcc>Tcc p.A2955S NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2955 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCACAGTCGGCCAGCTTCTCC 0.662000 15 50 1.99824e-07 1.99824e-07 1 1 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 27 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb 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 10 28 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 34 0 0 1 0 0 SWSAP1 126074 broad.mit.edu 37 19 11485510 11485510 + Missense_Mutation SNP G G C TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr19:11485510G>C ENST00000312423.2 + 1 150 c.91G>C c.(91-93)Ggg>Cgg p.G31R CTD-2342J14.6_ENST00000590399.1_RNA NM_175871.3 NP_787067.2 Q6NVH7 CS039_HUMAN SWIM-type zinc finger 7 associated protein 1 31 AGAGGCGGCGGGGGAGGGCCA 0.627000 19 80 0 0 1 0 0 DEFB119 245932 broad.mit.edu 37 20 29976940 29976940 + Missense_Mutation SNP G G A TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr20:29976940G>A ENST00000376315.2 - 2 154 c.155C>T c.(154-156)cCt>cTt p.P52L DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron NM_001271209.1|NM_153323.4 NP_001258138.1|NP_697018.1 Q8N690 DB119_HUMAN defensin, beta 119 58 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ATAACGACTAGGAACACAGCA 0.448000 15 55 0 0 1 0 0 FCHSD1 89848 broad.mit.edu 37 5 141026744 141026744 + Silent SNP G G C TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr5:141026744G>C ENST00000435817.2 - 10 932 c.882C>G c.(880-882)tcC>tcG p.S294S FCHSD1_ENST00000522126.1_Silent_p.S218S|FCHSD1_ENST00000522783.1_Silent_p.S292S|FCHSD1_ENST00000523856.1_5'UTR NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 294 FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGGGTGGGGGAAAATACAC 0.502000 4 3 0 0 1 0 0 TUSC5 286753 broad.mit.edu 37 17 1183415 1183415 + Silent SNP C C G TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr17:1183415C>G ENST00000333813.3 + 1 459 c.120C>G c.(118-120)acC>acG p.T40T NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 40 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ATGACAAGACCCTGAATCTGT 0.612000 22 67 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129289655 129289655 + Missense_Mutation SNP C C A rs140631068 TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr3:129289655C>A ENST00000393239.1 - 19 3902 c.3724G>T c.(3724-3726)Gcg>Tcg p.A1242S PLXND1_ENST00000324093.4_Missense_Mutation_p.A1242S Q9Y4D7 PLXD1_HUMAN plexin D1 1242 axon guidance integral to membrane|intracellular|plasma membrane p.A1242T(1) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CCCACGGCCGCGCCCAGGGAC 0.632000 16 173 6.72482e-11 7.84563e-11 1 1 0 SACM1L 22908 broad.mit.edu 37 3 45785079 45785079 + Missense_Mutation SNP T T C TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr3:45785079T>C ENST00000389061.5 + 20 1886 c.1682T>C c.(1681-1683)aTt>aCt p.I561T SACM1L_ENST00000541314.1_Missense_Mutation_p.I500T|SACM1L_ENST00000418611.1_Missense_Mutation_p.I458T NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 561 Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GTTGCAAGCATTGGAACATTT 0.373000 12 62 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 31 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 5 11 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-J8-A3YG-01A-11D-A22Z-08 TCGA-J8-A3YG-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 832df42e-2582-466d-9df2-7869fcf12057 d2dc5691-bdd9-4dd7-8794-69fc54dad1cb g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 6 5 --- --- --- ---