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 KIAA1257 57501 broad.mit.edu 37 3 128706481 128706481 + Silent SNP G G A TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr3:128706481G>A uc003elj.4 - 3 841 c.645C>T c.(643-645)gaC>gaT p.D215D KIAA1257_uc003elg.1_Silent_p.D215D|KIAA1257_uc003eli.4_Silent_p.D103D NM_020741 NP_065792 Q9ULG3 K1257_HUMAN Homo sapiens KIAA1257 (KIAA1257), mRNA. 215 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 AAGCTCCCACGTCGTCTGTGA 0.428000 5 64 0 0 1 0 0 UQCRC1 7384 broad.mit.edu 37 3 48638425 48638425 + Missense_Mutation SNP T T C TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr3:48638425T>C uc003cub.1 - 7 994 c.949A>G c.(949-951)Act>Gct p.T317A NM_003365 NP_003356 P31930 QCR1_HUMAN Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA. 317 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) CCACCATAAGTGCAGTCATAG 0.622000 14 26 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51065569 51065569 + Missense_Mutation SNP G G A TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr22:51065569G>A uc010hbf.3 - 1 884 c.484C>T c.(484-486)Cac>Tac p.H162Y ARSA_uc003bna.4_Intron|ARSA_uc021wsd.1_Intron|ARSA_uc021wse.1_Intron|ARSA_uc021wsf.1_Intron|ARSA_uc003bmz.4_Intron P15289 ARSA_HUMAN Homo sapiens arylsulfatase A (ARSA), transcript variant 1, mRNA. 162 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) GTGGGAGGGTGGCTGAGGGCC 0.701000 10 25 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d 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 13 48 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170627281 170627281 + Missense_Mutation SNP C C T TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr6:170627281C>T uc003qxp.3 + 1 911 c.803C>T c.(802-804)tCa>tTa p.S268L FAM120B_uc003qxo.1_Missense_Mutation_p.S268L|FAM120B_uc011ehd.2_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN Homo sapiens family with sequence similarity 120B (FAM120B), mRNA. 268 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TTAGCTGTGTCAGACCATATA 0.353000 8 76 0 0 1 0 0 RPL18A 6142 broad.mit.edu 37 19 17973820 17973820 + Missense_Mutation SNP C C T TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr19:17973820C>T uc002nhp.2 + 3 457 c.422C>T c.(421-423)gCt>gTt p.A141V NM_000980 NP_000971 Q02543 RL18A_HUMAN Homo sapiens ribosomal protein L18a (RPL18A), mRNA. 141 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|protein binding|structural constituent of ribosome NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CGCCGGCCGGCTGTCAAGCAG 0.677000 15 21 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3281319 3281319 + Missense_Mutation SNP C C G TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr19:3281319C>G uc002lxm.3 + 5 763 c.726C>G c.(724-726)agC>agG p.S242R CELF5_uc010dtj.2_Missense_Mutation_p.S242R|CELF5_uc002lxl.2_Missense_Mutation_p.S242R|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA. 242 mRNA processing cytoplasm|nucleus RNA binding|nucleotide binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 TGCCCTTCAGCCCCTACAGTG 0.642000 14 71 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509227 171509227 + Silent SNP A A G TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr1:171509227A>G uc010pmg.2 + 15 2882 c.2616A>G c.(2614-2616)caA>caG p.Q872Q PRRC2C_uc010pmh.2_5'UTR NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA. 872 protein C-terminus binding CACAAGTACAAAAGTTTTTAA 0.398000 38 71 0 0 1 0 0 GOT2 2806 broad.mit.edu 37 16 58750077 58750077 + Missense_Mutation SNP C C A TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr16:58750077C>A uc002eof.1 - 7 974 c.860G>T c.(859-861)cGt>cTt p.R287L GOT2_uc010vim.1_Missense_Mutation_p.R244L NM_002080 NP_002071 P00505 AATM_HUMAN Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA. 287 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGCTCCTACACGCTCACCTGA 0.428000 20 46 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154138835 154138835 + Frame_Shift_Del DEL G G - TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr3:154138835delG uc003faa.3 - 2 1716 c.1616delC c.(1615-1617)cctfs p.P539fs NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA. 539 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TACCTGACGAGGGGTTCTTTC 0.368 16 16 --- --- --- ---