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 SLC27A6 28965 broad.mit.edu 37 5 128301920 128301920 + Missense_Mutation SNP C C A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr5:128301920C>A ENST00000262462.4 + 1 1100 c.90C>A c.(88-90)gaC>gaA p.D30E SLC27A6_ENST00000506176.1_Missense_Mutation_p.D30E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.D30E Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 30 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TTTGGGATGACTTCTGGTTCG 0.478000 7 63 2.0095e-06 2.21045e-06 1 1 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959752 45959752 + Silent SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr21:45959752G>A ENST00000400375.1 - 1 326 c.282C>T c.(280-282)ccC>ccT p.P94P TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 94 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 cctgctggcagggggaggagg 0.662000 4 95 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76787341 76787341 + Splice_Site SNP C C T TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr4:76787341C>T ENST00000286719.7 - 15 2277 c.e15+1 NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CACACCGTTACCTCGCGACTC 0.473000 36 61 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 15977990 15977990 + Missense_Mutation SNP C C T TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr8:15977990C>T ENST00000262101.5 - 9 1280 c.1159G>A c.(1159-1161)Gtc>Atc p.V387I MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.V405I|MSR1_ENST00000355282.2_Intron P21757 MSRE_HUMAN macrophage scavenger receptor 1 387 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTCCTACAGACGACCTGTCCA 0.542000 5 103 0 0 1 0 0 BARHL2 343472 broad.mit.edu 37 1 91180275 91180275 + Missense_Mutation SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr1:91180275G>A ENST00000370445.4 - 2 705 c.664C>T c.(664-666)Cgt>Tgt p.R222C NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 222 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GGACTCTCACGGCTACTCGTA 0.542000 19 121 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66474575 66474575 + Silent SNP C C T TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr7:66474575C>T ENST00000359626.5 + 4 443 c.279C>T c.(277-279)ttC>ttT p.F93F NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 93 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) ATTAGGGATTCGCAACAGTTC 0.398000 4 49 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72081809 72081809 + RNA SNP T T C TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr7:72081809T>C ENST00000438125.1 - 0 1246 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GAACTTTCTCTGCAGTAGGTA 0.498000 7 88 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49169216 49169216 + Missense_Mutation SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr12:49169216G>A ENST00000307885.4 - 10 2544 c.1850C>T c.(1849-1851)gCc>gTc p.A617V ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.A617V|ADCY6_ENST00000550422.1_Missense_Mutation_p.A617V NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 617 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 AGGGTTCAGGGCATCTTGGGT 0.572000 3 33 0 0 1 0 0 FLAD1 80308 broad.mit.edu 37 1 154961060 154961060 + Silent SNP A A G TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr1:154961060A>G ENST00000368433.1 + 2 1195 c.852A>G c.(850-852)ctA>ctG p.L284L FLAD1_ENST00000295530.2_Silent_p.L17L|FLAD1_ENST00000315144.10_Silent_p.L187L|FLAD1_ENST00000292180.3_Silent_p.L284L|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000405236.2_Silent_p.L185L|FLAD1_ENST00000368431.3_Silent_p.L185L|FLAD1_ENST00000368432.1_Silent_p.L187L Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 284 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CAAAGGAGCTATATGTGGCTG 0.587000 9 25 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43886328 43886328 + Silent SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr12:43886328G>A ENST00000389420.3 - 6 1055 c.1056C>T c.(1054-1056)gaC>gaT p.D352D ADAMTS20_ENST00000553158.1_Silent_p.D352D NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 352 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GAACAGCAGTGTCATGGTGGG 0.383000 3 9 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64005579 64005579 + Missense_Mutation SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr15:64005579G>A ENST00000443617.2 - 23 4523 c.4436C>T c.(4435-4437)gCc>gTc p.A1479V RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1479 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CCCTTCAGAGGCACTTGTTGA 0.448000 4 71 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53241882 53241882 + Missense_Mutation SNP G G T TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr12:53241882G>T ENST00000359499.4 - 2 89 c.78C>A c.(76-78)aaC>aaA p.N26K KRT78_ENST00000304620.4_Missense_Mutation_p.N136K Q8N1N4 K2C78_HUMAN keratin 78 136 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CCAGGACCTTGTTCTGCTGCT 0.602000 8 18 1.12685e-05 1.18051e-05 1 1 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 58 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4876138 4876138 + Missense_Mutation SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr7:4876138G>A ENST00000399583.3 - 3 821 c.634C>T c.(634-636)Cgc>Tgc p.R212C RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.R212C NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 212 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) ACTGTGCGGCGCAACCGGGGT 0.736000 3 18 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187475 12187475 + Missense_Mutation SNP C C G TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr19:12187475C>G ENST00000439326.3 + 4 1715 c.1540C>G c.(1540-1542)Cat>Gat p.H514D ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H514D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 AAAGCCTTCACATCTGCCTCA 0.408000 3 42 0 0 1 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 3 4 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 6 11 --- --- --- --- EVPLL 645027 broad.mit.edu 37 17 18284713 18284713 + Frame_Shift_Del DEL G G - TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr17:18284713delG ENST00000399134.4 + 3 454 c.96delG c.(94-96)ctfs p.L32fs RP1-37N7.1_ENST00000579352.1_RNA NM_001145127.1 NP_001138599.1 A8MZ36 EVPLL_HUMAN envoplakin-like 32 NS(1)|endometrium(1)|large_intestine(1)|lung(2) 5 GCCAGGCCCTGCAGCACCAGC 0.672 2 4 --- --- --- ---