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 RASSF2 9770 broad.mit.edu 37 20 4776561 4776561 + Missense_Mutation SNP G G A TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr20:4776561G>A uc002wld.3 - 3 241 c.187C>T c.(187-189)Cgc>Tgc p.R63C RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Missense_Mutation_p.R63C NM_170774 NP_739580 P50749 RASF2_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA. 63 cell cycle|signal transduction nucleus protein binding p.R63H(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 ATGGGCCGGCGCAGGCCCCAG 0.592000 4 69 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 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 15 24 0 0 1 0 0 WDR83 84292 broad.mit.edu 37 19 12780673 12780673 + Silent SNP C C T TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr19:12780673C>T uc002mue.4 + 2 414 c.69C>T c.(67-69)tgC>tgT p.C23C WDR83_uc002muc.3_Non-coding_Transcript|WDR83OS_uc002mud.2_5'Flank|WDR83_uc010dyw.3_Silent_p.C23C NM_001099737 NP_115708 Q9BRX9 WDR83_HUMAN Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA. 23 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 CGCTGGACTGCGGGCAGGGGG 0.617000 5 139 0 0 1 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994590 45994590 + Missense_Mutation SNP G G A TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr21:45994590G>A uc002zfk.1 + 0 985 c.955G>A c.(955-957)Gtg>Atg p.V319M TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA. 319 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GGGCTGCTGCGTGCCCGTCTG 0.622000 7 214 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56320297 56320297 + Missense_Mutation SNP G G A TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr19:56320297G>A uc010ygf.2 - 4 2390 c.1679C>T c.(1678-1680)aCg>aTg p.T560M NLRP11_uc002qlz.3_Missense_Mutation_p.T461M|NLRP11_uc002qmb.3_Missense_Mutation_p.T461M|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 560 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ATCCACAATCGTCTTCACAAA 0.428000 21 112 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32505799 32505799 + Missense_Mutation SNP C C T TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr8:32505799C>T uc003xiy.3 + 0 1549 c.563C>T c.(562-564)gCg>gTg p.A188V NRG1_uc022ats.1_Intron|NRG1_uc003xip.3_Intron|NRG1_uc003xir.3_Intron|NRG1_uc010lvl.3_Intron|NRG1_uc010lvm.3_Intron|NRG1_uc010lvn.3_Intron|NRG1_uc003xis.3_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Intron|NRG1_uc003xiv.2_Intron|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.3_Intron NM_013959 NP_039253 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant SMDF, mRNA. 445 EGF-like. Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCGTCCACTGCGCCATCCTTC 0.507000 17 38 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156692 26156692 + Missense_Mutation SNP G G A TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr6:26156692G>A uc003ngq.3 + 0 134 c.74G>A c.(73-75)cGc>cAc p.R25H HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA. 25 nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.R25P(2) NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 AAGAAGGCCCGCAAGTCTGCA 0.647000 4 104 0 0 1 0 0 CCDC41 51134 broad.mit.edu 37 12 94794732 94794732 + Missense_Mutation SNP T T C TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr12:94794732T>C uc001tdd.3 - 5 1029 c.443A>G c.(442-444)tAt>tGt p.Y148C CCDC41_uc001tde.3_Missense_Mutation_p.Y148C|CCDC41_uc009zsw.1_Non-coding_Transcript|CCDC41_uc001tdf.3_Missense_Mutation_p.Y148C NM_016122 NP_057206 Q9Y592 CCD41_HUMAN Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA. 140 breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 AAGCTTATTATATACAGCTCT 0.303000 22 46 0 0 1 0 0