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 ENST00000394906.2 - 11 1160 c.1083G>A c.(1081-1083)gtG>gtA p.V361V FLOT2_ENST00000585169.1_Silent_p.V306V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Silent_p.V306V Q14254 FLOT2_HUMAN flotillin 2 306 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 0.047766 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 ENST00000371917.4 + 27 3747 c.3747C>G c.(3745-3747)tgC>tgG p.C1249W NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1249 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane 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 0.125774 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 ENST00000361564.4 + 3 325 c.253A>G c.(253-255)Atg>Gtg p.M85V OSTC_ENST00000512478.2_Missense_Mutation_p.M85V NM_021227.3 NP_067050.1 Q9NRP0 OSTC_HUMAN oligosaccharyltransferase complex subunit (non-catalytic) 85 integral to membrane|oligosaccharyltransferase complex breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 ACAATATATTATGGAAGGACT 0.338000 6 57 0 0 0.021553 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 ENST00000242057.4 + 6 1344 c.701T>A c.(700-702)tTt>tAt p.F234Y NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 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 0.105934 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 ENST00000371088.4 + 2 293 c.47C>A c.(46-48)tCa>tAa p.S16* NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 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 4.68919e-08 5.92319e-08 0.069234 1 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 ENST00000336604.4 - 1 747 c.706C>A c.(706-708)Ccc>Acc p.P236T IFFO1_ENST00000396840.2_Missense_Mutation_p.P236T|IFFO1_ENST00000356896.4_Missense_Mutation_p.P236T NM_080730.4 NP_542768.2 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 236 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 2.0095e-06 2.4114e-06 0.029380 1 0 HIVEP3 59269 broad.mit.edu 37 1 42050343 42050343 + Silent SNP T T A rs147545420 byFrequency 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.chr1:42050343T>A ENST00000372584.1 - 3 1140 c.126A>T c.(124-126)acA>acT p.T42T HIVEP3_ENST00000247584.5_Silent_p.T42T|HIVEP3_ENST00000429157.2_Silent_p.T42T|HIVEP3_ENST00000372583.1_Silent_p.T42T NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 42 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGTGGCAGCTGTGCCGCTGC 0.627000 7 186 0 0 0.029380 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes 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.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 5 93 0 0 0.029380 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 ENST00000346193.3 - 1 2236 c.2185G>A c.(2185-2187)Gtt>Att p.V729I NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 729 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 0.058154 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 ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 0.099896 0 0 RP11-571L19.7 0 broad.mit.edu 37 4 99877753 99877753 + RNA DEL A A - rs33952764 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.chr4:99877753delA ENST00000583654.1 + 0 237 actctgtctcaaaaaaaaaaa 0.448 2 4 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - 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.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 3 5 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - 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.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 7 52 --- --- --- --- LTN1 26046 broad.mit.edu 37 21 30339206 30339206 + Frame_Shift_Del DEL T 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.chr21:30339206delT ENST00000361371.4 - 10 1757 c.1607delA c.(1606-1608)atfs p.N536fs LTN1_ENST00000389194.2_Frame_Shift_Del_p.N582fs|LTN1_ENST00000389195.2_Frame_Shift_Del_p.N582fs NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 536 ligase activity|zinc ion binding p.N536fs*33(1) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 AACCTTACCATTTTTTTTTTT 0.378 8 59 --- --- --- --- IGLV3-9 0 broad.mit.edu 37 22 23161844 23161845 + RNA DEL CC CC - rs72002333 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.chr22:23161844_23161845delCC ENST00000390316.2 + 0 161 TGCTCATGGTCCCCTGAGGACA 0.554 10 4 --- --- --- ---