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 AK300387 0 broad.mit.edu 37 16 32192662 32192662 + RNA SNP G G A TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 g.chr16:32192662G>A uc010vfv.1 - 4 c.684C>T Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2. TGGCCTTTTGGTGCCTGGCGT 0.547000 5 28 0 0 1 0 0 BCKDK 10295 broad.mit.edu 37 16 31122082 31122082 + Splice_Site SNP G G T TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 g.chr16:31122082G>T uc002eaw.4 + 8 1032 c.716_splice c.e8+1 p.R239_splice BCKDK_uc002eav.4_Splice_Site_p.R239_splice|BCKDK_uc010cai.3_Splice_Site_p.R239_splice NM_005881 NP_005872 O14874 BCKD_HUMAN Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 239 Histidine kinase. branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex ATP binding|[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 GACTTTGCCAGGTGAGGCAAG 0.577000 40 57 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186052052 186052052 + Missense_Mutation SNP C C A TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 g.chr1:186052052C>A uc001grq.1 + 56 9072 c.8843C>A c.(8842-8844)aCa>aAa p.T2948K MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2948 Ig-like C2-type 27. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCTGAGAACACAGCTGGGAGT 0.353000 9 20 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 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 25 45 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9482327 9482327 + Missense_Mutation SNP C C T TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 g.chr3:9482327C>T uc003brt.3 + 7 1190 c.755C>T c.(754-756)aCt>aTt p.T252I SETD5_uc003brs.1_Missense_Mutation_p.T233I|SETD5_uc003bru.3_Missense_Mutation_p.T154I|SETD5_uc003brv.3_Missense_Mutation_p.T141I|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN Homo sapiens SET domain containing 5 (SETD5), mRNA. 252 p.I252I(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) ATTTTAGACACTATTAATAAG 0.393000 5 13 0 0 1 0 0 SSX1 6756 broad.mit.edu 37 X 48118021 48118021 + Missense_Mutation SNP T T A TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 g.chrX:48118021T>A uc004djb.1 + 3 326 c.235T>A c.(235-237)Ttc>Atc p.F79I NM_005635 NP_005626 Q16384 SSX1_HUMAN Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA. 79 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169)|SS18L1/SSX1(2) endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 GGCCACAGACTTCCAGGGGAA 0.453000 T SS18 synovial sarcoma 62 94 0 0 1 0 0 LRRC33 375387 broad.mit.edu 37 3 196387348 196387348 + Silent SNP G G C TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 g.chr3:196387348G>C uc003fwv.3 + 2 938 c.834G>C c.(832-834)ctG>ctC p.L278L NM_198565 NP_940967 Q86YC3 LRC33_HUMAN Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA. 278 integral to membrane NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3) 40 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GGACCCTCCTGCTGCGCGACA 0.627000 34 92 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482634 94482634 + Missense_Mutation SNP A A C TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 g.chr13:94482634A>C uc001vlt.3 + 2 1179 c.547A>C c.(547-549)Agt>Cgt p.S183R GPC6_uc010tig.1_Missense_Mutation_p.S183R|GPC6_uc001vlu.1_Missense_Mutation_p.S113R NM_005708 NP_005699 Q9Y625 GPC6_HUMAN Homo sapiens glypican 6 (GPC6), mRNA. 183 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GTATCACTTCAGTGAAGACTA 0.493000 6 45 0 0 1 0 0 LCE1C 353133 broad.mit.edu 37 1 152777911 152777911 + Missense_Mutation SNP T T A TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 g.chr1:152777911T>A uc001fap.1 - 1 95 c.44A>T c.(43-45)aAg>aTg p.K15M LCE1C_uc021ozi.1_Missense_Mutation_p.K15M NM_178351 NP_848128 Q5T751 LCE1C_HUMAN Homo sapiens late cornified envelope 1C (LCE1C), mRNA. 15 Pro-rich. keratinization NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1) 9 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) gggggtgcacttgggagggGG 0.607000 9 20 0 0 1 0 0 ARCN1 372 broad.mit.edu 37 11 118455289 118455289 + Missense_Mutation SNP A A G TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 g.chr11:118455289A>G uc009zag.3 + 5 1073 c.871A>G c.(871-873)Atg>Gtg p.M291V ARCN1_uc001ptq.3_Missense_Mutation_p.M250V|ARCN1_uc010ryg.2_Missense_Mutation_p.M162V NM_001142281 NP_001135753 P48444 COPD_HUMAN Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA. 250 MHD. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|clathrin adaptor complex|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TGAAACCATCATGTCCTCTAG 0.413000 25 40 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45269298 45269298 + Frame_Shift_Del DEL A A - TCGA-EL-A4K0-01A-11D-A257-08 TCGA-EL-A4K0-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 220d117b-cc76-4c53-8f51-5eee3409a703 939a3085-5656-44fb-a757-67e40ab49b32 g.chr12:45269298delA uc001rof.3 - 0 147 c.44delT c.(43-45)ctgfs p.L15fs NELL2_uc001rog.2_Intron|NELL2_uc001roh.2_Intron|NELL2_uc009zkd.2_Frame_Shift_Del_p.L15fs|NELL2_uc010skz.1_Intron|NELL2_uc010sla.1_Intron|NELL2_uc001roi.1_Intron|NELL2_uc010slb.1_Frame_Shift_Del_p.L15fs|NELL2_uc001roj.2_Intron NM_001145109 NP_001138581 Q99435 NELL2_HUMAN Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 4, mRNA. 0 cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ACCTGAGATCAGCAGCCAAGC 0.557 6 13 --- --- --- ---