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 FLOT2 2319 broad.mit.edu 37 17 27208390 27208390 + Silent SNP C C T TCGA-ET-A39K-01A-11D-A19J-08 TCGA-ET-A39K-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ea309c8-f103-4eec-a8bb-329c17387599 2b6cc855-e787-426f-9121-ddbcad17e997 g.chr17:27208390C>T uc002hdc.3 - 8 1041 c.918G>A c.(916-918)gtG>gtA p.V306V NM_004475 NP_004466 Q14254 FLOT2_HUMAN Homo sapiens flotillin 2 (FLOT2), mRNA. 306 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) GGACCTGCTTCACCCTGGGGG 0.627000 8 79 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47626931 47626931 + Missense_Mutation SNP C C G TCGA-ET-A39K-01A-11D-A19J-08 TCGA-ET-A39K-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ea309c8-f103-4eec-a8bb-329c17387599 2b6cc855-e787-426f-9121-ddbcad17e997 g.chr20:47626931C>G uc002xtx.4 + 26 3899 c.3747C>G c.(3745-3747)tgC>tgG p.C1249W ARFGEF2_uc010zyf.2_Missense_Mutation_p.C542W NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 1249 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AGACCACTTGCCACATTGTCA 0.507000 26 45 0 0 1 0 0 IFFO1 25900 broad.mit.edu 37 12 6664490 6664490 + Missense_Mutation SNP G G T TCGA-ET-A39K-01A-11D-A19J-08 TCGA-ET-A39K-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ea309c8-f103-4eec-a8bb-329c17387599 2b6cc855-e787-426f-9121-ddbcad17e997 g.chr12:6664490G>T uc010sfe.2 - 0 760 c.706C>A c.(706-708)Ccc>Acc p.P236T IFFO1_uc001qpc.2_Missense_Mutation_p.P236T|IFFO1_uc001qpf.2_Missense_Mutation_p.P236T|IFFO1_uc001qpe.2_Non-coding_Transcript NM_001193457 NP_001180386 Q0D2I5 IFFO1_HUMAN Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA. 236 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 CGGATCTCGGGCGTGATGGTG 0.662000 6 116 0 0 1 0 0 OSTC 58505 broad.mit.edu 37 4 109578625 109578625 + Missense_Mutation SNP A A G TCGA-ET-A39K-01A-11D-A19J-08 TCGA-ET-A39K-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ea309c8-f103-4eec-a8bb-329c17387599 2b6cc855-e787-426f-9121-ddbcad17e997 g.chr4:109578625A>G uc003hzb.1 + 2 324 c.253A>G c.(253-255)Atg>Gtg p.M85V NM_021227 NP_067050 Q9NRP0 OSTC_HUMAN Homo sapiens oligosaccharyltransferase complex subunit (OSTC), mRNA. 85 integral to membrane|oligosaccharyltransferase complex breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 ACAATATATTATGGAAGGACT 0.338000 6 57 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17370506 17370506 + Missense_Mutation SNP T T A TCGA-ET-A39K-01A-11D-A19J-08 TCGA-ET-A39K-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ea309c8-f103-4eec-a8bb-329c17387599 2b6cc855-e787-426f-9121-ddbcad17e997 g.chr7:17370506T>A uc011jxz.1 + 5 1314 c.701T>A c.(700-702)tTt>tAt p.F234Y NM_001621 NP_001612 P35869 AHR_HUMAN Homo sapiens aryl hydrocarbon receptor (AHR), mRNA. 234 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TCATCTGGTTTTCTGGTAAGG 0.353000 13 17 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A39K-01A-11D-A19J-08 TCGA-ET-A39K-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ea309c8-f103-4eec-a8bb-329c17387599 2b6cc855-e787-426f-9121-ddbcad17e997 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 23 32 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148211 34148211 + Missense_Mutation SNP C C T TCGA-ET-A39K-01A-11D-A19J-08 TCGA-ET-A39K-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ea309c8-f103-4eec-a8bb-329c17387599 2b6cc855-e787-426f-9121-ddbcad17e997 g.chrX:34148211C>T uc004ddg.3 - 0 2237 c.2185G>A c.(2185-2187)Gtt>Att p.V729I NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 729 p.D728N(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TCGTCAAGAACGTCAGGTTCA 0.438000 10 171 0 0 1 0 0 EFCAB7 84455 broad.mit.edu 37 1 63991290 63991290 + Nonsense_Mutation SNP C C A TCGA-ET-A39K-01A-11D-A19J-08 TCGA-ET-A39K-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ea309c8-f103-4eec-a8bb-329c17387599 2b6cc855-e787-426f-9121-ddbcad17e997 g.chr1:63991290C>A uc001dbf.3 + 1 341 c.47C>A c.(46-48)tCa>tAa p.S16* ITGB3BP_uc001dbc.2_5'Flank|ITGB3BP_uc001dbb.2_5'Flank|ITGB3BP_uc001dba.2_5'Flank|ITGB3BP_uc009wak.1_5'Flank NM_032437 NP_115813 A8K855 EFCB7_HUMAN Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA. 16 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 AGTCAGAAATCAACACCTTCA 0.363000 10 89 0 0 1 0 0