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 MS4A8B 83661 broad.mit.edu 37 11 60470906 60470906 + Missense_Mutation SNP C C T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr11:60470906C>T uc001npv.3 + 2 478 c.275C>T c.(274-276)aCg>aTg p.T92M MS4A8B_uc009yne.1_Missense_Mutation_p.T92M NM_031457 NP_113645 Q9BY19 M4A8B_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA. 92 integral to membrane receptor activity p.A91A(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 ATCATGGCGACGGTTCTCGTA 0.552 PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG TTG - TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr12:11546320_11546322delTTG uc010shk.1 - 2 725_727 c.690_692delCAA c.(688-693)aacaag>aag p.N230del NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTTGGGACTTGTTGTCTCCTT 0.601 RYR3 6263 broad.mit.edu 37 15 34105755 34105755 + Missense_Mutation SNP A A G TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr15:34105755A>G uc001zhi.3 + 73 10547 c.10477A>G c.(10477-10479)Atg>Gtg p.M3493V RYR3_uc010bar.3_Missense_Mutation_p.M3488V NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 3493 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGTTTCAGGATGGCCCCTCT 0.527 THBS1 7057 broad.mit.edu 37 15 39874573 39874573 + Missense_Mutation SNP C C T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr15:39874573C>T uc001zkh.3 + 2 426 c.247C>T c.(247-249)Cgg>Tgg p.R83W NM_003246 NP_003237 P07996 TSP1_HUMAN Homo sapiens thrombospondin 1 (THBS1), mRNA. 83 Heparin-binding.|TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GGATGCTGTGCGGGCAGAAAA 0.617 PAQR5 54852 broad.mit.edu 37 15 69652448 69652448 + Missense_Mutation SNP T T C TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr15:69652448T>C uc002arz.2 + 2 407 c.29T>C c.(28-30)tTt>tCt p.F10S PAQR5_uc002asa.2_Missense_Mutation_p.F10S NM_017705 NP_060175 Q9NXK6 MPRG_HUMAN Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA. 10 cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 CCCAGGCTGTTTAGCATAGAC 0.542 CLEC3A 10143 broad.mit.edu 37 16 78064695 78064695 + Missense_Mutation SNP G G A TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr16:78064695G>A uc002ffh.4 + 2 632 c.551G>A c.(550-552)cGc>cAc p.R184H CLEC3A_uc021tlr.1_Missense_Mutation_p.R132H NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 184 C-type lectin. skeletal system development extracellular region sugar binding p.C183R(1) NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 GAGGCCTGTCGCAGCAGCAAG 0.493 HOXB5 3215 broad.mit.edu 37 17 46670992 46670992 + Missense_Mutation SNP T T C TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr17:46670992T>C uc002inr.3 - 0 112 c.53A>G c.(52-54)gAc>gGc p.D18G HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB-AS3_uc021tzk.1_5'Flank NM_002147 NP_002138 P09067 HXB5_HUMAN Homo sapiens homeobox B5 (HOXB5), mRNA. 18 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 CAACTGATAGTCCGGGCCATT 0.507 FUT3 2525 broad.mit.edu 37 19 5844280 5844280 + Missense_Mutation SNP C C T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr19:5844280C>T uc002mdk.2 - 1 668 c.571G>A c.(571-573)Gag>Aag p.E191K FUT3_uc002mdm.2_Missense_Mutation_p.E191K|FUT3_uc002mdj.2_Missense_Mutation_p.E191K|FUT3_uc002mdl.2_Missense_Mutation_p.E191K|FUT3_uc021unn.1_Missense_Mutation_p.E191K NM_001097641 NP_001091110 P21217 FUT3_HUMAN Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA. 191 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GCCACCAGCTCGGTCTTGGCC 0.667 MUC16 94025 broad.mit.edu 37 19 9003616 9003616 + Missense_Mutation SNP G G A TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr19:9003616G>A uc002mkp.3 - 48 40228 c.40024C>T c.(40024-40026)Cgc>Tgc p.R13342C MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R159C|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13344 SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGCCAGGGCGACGCATGTCC 0.552 CCDC37 348807 broad.mit.edu 37 3 126133023 126133023 + Splice_Site SNP G G A rs150312379 byFrequency TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr3:126133023G>A uc010hsg.1 + 3 284 c.225_splice c.e3+1 p.S75_splice CCDC37_uc003eiu.1_Splice_Site_p.S75_splice NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 75 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) GGCTCTCTCCGTGAGTATCCA 0.557 PCDHAC2 56147 broad.mit.edu 37 5 140167216 140167216 + Silent SNP C C T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr5:140167216C>T uc003lhb.2 + 0 1341 c.1341C>T c.(1339-1341)gaC>gaT p.D447D PCDHAC2_uc003lha.2_Silent_p.D447D|PCDHAC2_uc003lgz.3_Silent_p.D447D NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 461 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.I446M(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGGCCGACGTGAATGACA 0.667 PPARGC1B 133522 broad.mit.edu 37 5 149210432 149210432 + Missense_Mutation SNP C C T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr5:149210432C>T uc003lrc.3 + 3 659 c.568C>T c.(568-570)Cgg>Tgg p.R190W PPARGC1B_uc003lrb.2_Missense_Mutation_p.R190W|PPARGC1B_uc003lrd.3_Intron|PPARGC1B_uc021yfr.1_Intron|PPARGC1B_uc003lre.1_Missense_Mutation_p.R169W|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R169W NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA. 190 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TAAAAGTCAACGGCCTTGTGT 0.562 TDRD6 221400 broad.mit.edu 37 6 46658843 46658843 + Missense_Mutation SNP C C T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr6:46658843C>T uc003oyj.3 + 0 3232 c.2978C>T c.(2977-2979)aCg>aTg p.T993M TDRD6_uc010jze.3_Missense_Mutation_p.T993M NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 993 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTTTATATAACGCATATTGAT 0.333 RAMP3 10268 broad.mit.edu 37 7 45222997 45222997 + Missense_Mutation SNP G G A TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr7:45222997G>A uc003tnb.3 + 2 494 c.433G>A c.(433-435)Gac>Aac p.D145N NM_005856 NP_005847 O60896 RAMP3_HUMAN Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA. 145 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity p.D145N(2) breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) CAAACGCACCGACACGCTGCT 0.627 TLR4 7099 broad.mit.edu 37 9 120466768 120466768 + Silent SNP C C G TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr9:120466768C>G uc004bjz.3 + 0 309 c.18C>G c.(16-18)cgC>cgG p.R6R TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_5'UTR NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 6 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CTGCCTCGCGCCTGGCTGGGA 0.602