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 T T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr11:60470906C>T uc001npv.2 + 3 478 c.275C>T c.(274-276)ACG>ATG p.T92M MS4A8B_uc009yne.1_Missense_Mutation_p.T92M NM_031457 NP_113645 Q9BY19 M4A8B_HUMAN membrane-spanning 4-domains, subfamily A, member 92 Helical; (Potential). integral to membrane receptor activity 0 ATCATGGCGACGGTTCTCGTA 0.552 PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG - - TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr12:11546320_11546322delTTG uc010shk.1 - 3 725_727 c.690_692delCAA c.(688-693)AACAAG>AAG p.N230del NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 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 G G TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr15:34105755A>G uc001zhi.2 + 74 10547 c.10477A>G c.(10477-10479)ATG>GTG p.M3493V RYR3_uc010bar.2_Missense_Mutation_p.M3488V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3493 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 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 T T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr15:39874573C>T uc001zkh.2 + 3 426 c.247C>T c.(247-249)CGG>TGG p.R83W NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 83 TSP N-terminal.|Heparin-binding. 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 ovary(3)|central_nervous_system(3) 6 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 C C TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr15:69652448T>C uc002arz.2 + 3 407 c.29T>C c.(28-30)TTT>TCT p.F10S PAQR5_uc002asa.2_Missense_Mutation_p.F10S NM_017705 NP_060175 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 10 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding ovary(2) 2 CCCAGGCTGTTTAGCATAGAC 0.542 CLEC3A 10143 broad.mit.edu 37 16 78064695 78064695 + Missense_Mutation SNP G A A TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr16:78064695G>A uc002ffh.3 + 3 632 c.551G>A c.(550-552)CGC>CAC p.R184H NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 184 C-type lectin. skeletal system development extracellular region sugar binding 0 GAGGCCTGTCGCAGCAGCAAG 0.493 HOXB5 3215 broad.mit.edu 37 17 46670992 46670992 + Missense_Mutation SNP T C C TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr17:46670992T>C uc002inr.2 - 1 112 c.53A>G c.(52-54)GAC>GGC p.D18G NM_002147 NP_002138 P09067 HXB5_HUMAN homeobox B5 18 nucleus sequence-specific DNA binding 0 CAACTGATAGTCCGGGCCATT 0.507 FUT3 2525 broad.mit.edu 37 19 5844280 5844280 + Missense_Mutation SNP C T T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr19:5844280C>T uc002mdk.2 - 2 668 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 NM_001097641 NP_001091110 P21217 FUT3_HUMAN fucosyltransferase 3 191 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity 0 GCCACCAGCTCGGTCTTGGCC 0.667 MUC16 94025 broad.mit.edu 37 19 9003616 9003616 + Missense_Mutation SNP G A A TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr19:9003616G>A uc002mkp.2 - 49 40228 c.40024C>T c.(40024-40026)CGC>TGC p.R13342C MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R159C|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13344 Extracellular (Potential).|SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGCCAGGGCGACGCATGTCC 0.552 CCDC37 348807 broad.mit.edu 37 3 126133023 126133023 + Splice_Site SNP G A A rs150312379 byFrequency TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr3:126133023G>A uc003eiu.1 + 4 324 c.225_splice c.e4+1 p.S75_splice CCDC37_uc010hsg.1_Splice_Site_p.S75_splice NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) GGCTCTCTCCGTGAGTATCCA 0.557 PCDHA1 56147 broad.mit.edu 37 5 140167216 140167216 + Silent SNP C T T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr5:140167216C>T uc003lhb.2 + 1 1341 c.1341C>T c.(1339-1341)GAC>GAT p.D447D PCDHA1_uc003lha.2_Silent_p.D447D|PCDHA1_uc003lgz.2_Silent_p.D447D NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 447 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 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 T T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr5:149210432C>T uc003lrc.2 + 4 610 c.568C>T c.(568-570)CGG>TGG p.R190W PPARGC1B_uc003lrb.1_Missense_Mutation_p.R190W|PPARGC1B_uc003lrd.2_Intron|PPARGC1B_uc003lrf.2_Missense_Mutation_p.R169W|PPARGC1B_uc003lre.1_Missense_Mutation_p.R169W NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 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 0 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 T T TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr6:46658843C>T uc003oyj.2 + 1 2978 c.2978C>T c.(2977-2979)ACG>ATG p.T993M TDRD6_uc010jze.2_Missense_Mutation_p.T987M NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 993 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GTTTATATAACGCATATTGAT 0.333 RAMP3 10268 broad.mit.edu 37 7 45222997 45222997 + Missense_Mutation SNP G A A TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr7:45222997G>A uc003tnb.2 + 3 494 c.433G>A c.(433-435)GAC>AAC p.D145N RAMP3_uc003tnc.2_Missense_Mutation_p.D113N NM_005856 NP_005847 O60896 RAMP3_HUMAN receptor activity modifying protein 3 precursor 145 Cytoplasmic (Potential). intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity 0 Pramlintide(DB01278) CAAACGCACCGACACGCTGCT 0.627 TLR4 7099 broad.mit.edu 37 9 120466768 120466768 + Silent SNP C G G TCGA-06-0240-01A-03D-1491-08 TCGA-06-0240-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 20f74001-1cb8-451d-8173-5795fa93432b 276d21da-719b-4970-8733-aa745d09281a g.chr9:120466768C>G uc004bjz.2 + 1 309 c.18C>G c.(16-18)CGC>CGG p.R6R TLR4_uc004bka.2_5'UTR|TLR4_uc004bkb.2_5'UTR NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 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 lung(10)|ovary(4)|breast(1)|skin(1) 16 CTGCCTCGCGCCTGGCTGGGA 0.602