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 LTBP1 4052 broad.mit.edu 37 2 33335734 33335734 + Nonsense_Mutation SNP C C T TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr2:33335734C>T uc021vft.1 + 3 972 c.949C>T c.(949-951)Cag>Tag p.Q317* NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 317 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTTTCCAGCCCAGAAGGGGAT 0.483000 12 134 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75102110 75102110 + Missense_Mutation SNP G G A TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr1:75102110G>A uc001dgg.3 - 5 676 c.457C>T c.(457-459)Cca>Tca p.P153S C1orf173_uc001dgi.4_5'Flank NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 153 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCAGTATATGGTCGAGGGGCT 0.403000 15 264 0 0 1 0 0 OR7A17 26333 broad.mit.edu 37 19 14992048 14992048 + Silent SNP G G A TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr19:14992048G>A uc010xob.2 - 0 120 c.120C>T c.(118-120)ctC>ctT p.L40L NM_030901 NP_112163 O14581 OR7AH_HUMAN Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA. 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) GCAGATTCCCGAGCACAGTGA 0.502000 6 62 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff 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 35 68 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14865797 14865797 + Missense_Mutation SNP A A G TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr19:14865797A>G uc002mzp.1 - 13 2015 c.1559T>C c.(1558-1560)tTt>tCt p.F520S EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Missense_Mutation_p.F509S|EMR2_uc002mzq.1_Missense_Mutation_p.F460S|EMR2_uc002mzr.1_Missense_Mutation_p.F471S|EMR2_uc002mzs.1_Missense_Mutation_p.F378S|EMR2_uc002mzt.1_Missense_Mutation_p.F416S|EMR2_uc002mzu.1_Missense_Mutation_p.F427S|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA. 520 GPS. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GAGGACGGCAAAGCTGCTCAG 0.572000 4 68 0 0 1 0 0 H2AFX 3014 broad.mit.edu 37 11 118966071 118966071 + Missense_Mutation SNP G G T TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr11:118966071G>T uc001pvg.3 - 0 107 c.34C>A c.(34-36)Cgc>Agc p.R12S NM_002105 NP_002096 P16104 H2AX_HUMAN Homo sapiens H2A histone family, member X (H2AFX), mRNA. 12 DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding lung(3) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) GCCTTGGCGCGGGCCTTGCCG 0.687000 Chromatin Structure OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 15 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133981764 133981765 + Frame_Shift_Ins INS - - AT TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr8:133981764_133981765insAT uc003ytw.3 + 31 5966_5967 c.5925_5926insAT c.(5923-5928)gggatafs p.G1975fs TG_uc010mdw.3_Frame_Shift_Ins_p.G734fs|TG_uc011ljb.2_Frame_Shift_Ins_p.G344fs|TG_uc011ljc.2_Frame_Shift_Ins_p.G129fs NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1975 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AACTGATGGGGATATCCATTAG 0.347 38 85 --- --- --- ---