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 PRAMEF11 440560 broad.mit.edu 37 1 12887475 12887475 + Missense_Mutation SNP G T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr1:12887475G>T uc001auk.2 - 3 578 c.382C>A c.(382-384)CTT>ATT p.L128I NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 128 0 ACCCATAGAAGGAGGCAGGTG 0.468 B4GALT2 8704 broad.mit.edu 37 1 44446914 44446914 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr1:44446914G>A uc001clg.2 + 2 452 c.82G>A c.(82-84)GTC>ATC p.V28I B4GALT2_uc001clh.2_5'UTR|B4GALT2_uc010okl.1_Missense_Mutation_p.V57I|B4GALT2_uc001cli.2_Missense_Mutation_p.V28I NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 28 Helical; Signal-anchor for type II membrane protein; (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CCTCGTGGCCGTCATCCTCTA 0.637 PPM1J 333926 broad.mit.edu 37 1 113255057 113255057 + Missense_Mutation SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr1:113255057C>T uc001ect.1 - 4 779 c.752G>A c.(751-753)CGG>CAG p.R251Q PPM1J_uc009wgl.1_RNA|PPM1J_uc001ecs.1_Missense_Mutation_p.R45Q NM_005167 NP_005158 Q5JR12 PPM1J_HUMAN protein phosphatase 1J (PP2C domain containing) 251 PP2C-like. breast(2)|central_nervous_system(1) 3 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGCCACGCCGCTCCCGGGC 0.617 PTEN 5728 broad.mit.edu 37 10 89692768 89692768 + Splice_Site SNP A C C TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr10:89692768A>C uc001kfb.2 + 6 1285 c.254_splice c.e6-2 p.V85_splice NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(2)|p.C71fs*6(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTTTTACCACAGTTGCACAAT 0.328 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) FAM181B 220382 broad.mit.edu 37 11 82443599 82443599 + Silent SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr11:82443599C>T uc001ozp.2 - 1 1308 c.1173G>A c.(1171-1173)GTG>GTA p.V391V NM_175885 NP_787081 A6NEQ2 F181B_HUMAN hypothetical protein LOC220382 391 large_intestine(1) 1 AATCGTAGGACACCTGATGGG 0.706 NOX4 50507 broad.mit.edu 37 11 89073229 89073229 + Splice_Site SNP A T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr11:89073229A>T uc001pct.2 - 15 1685 c.1446_splice c.e15+1 p.K482_splice NOX4_uc009yvr.2_Splice_Site_p.K457_splice|NOX4_uc001pcu.2_Splice_Site_p.K408_splice|NOX4_uc001pcw.2_Splice_Site_p.K175_splice|NOX4_uc001pcx.2_Splice_Site_p.K135_splice|NOX4_uc001pcv.2_Splice_Site_p.K442_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Splice_Site_p.K246_splice|NOX4_uc010rtv.1_Splice_Site_p.K418_splice|NOX4_uc009yvq.2_Splice_Site_p.K458_splice NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CCCTAATGTTACCTTGTTATG 0.318 ANGPTL5 253935 broad.mit.edu 37 11 101762058 101762058 + Missense_Mutation SNP T A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr11:101762058T>A uc001pgl.2 - 9 1715 c.1119A>T c.(1117-1119)AAA>AAT p.K373N NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 373 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TTGAAACAGATTTAATCTTGA 0.303 MMP1 4312 broad.mit.edu 37 11 102663372 102663372 + Missense_Mutation SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr11:102663372C>T uc001phi.2 - 7 1140 c.997G>A c.(997-999)GAA>AAA p.E333K uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.E267K NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 333 Hemopexin-like 2. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) TCGGCAAATTCGTAAGCAGCT 0.403 IPO8 10526 broad.mit.edu 37 12 30809654 30809654 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr12:30809654G>A uc001rjd.2 - 17 2082 c.1912C>T c.(1912-1914)CGG>TGG p.R638W IPO8_uc001rje.1_Missense_Mutation_p.R127W|IPO8_uc010sjt.1_Missense_Mutation_p.R433W NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 638 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCAATGATCCGTAGACAGATA 0.199 ZBTB39 9880 broad.mit.edu 37 12 57396685 57396685 + Missense_Mutation SNP G T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr12:57396685G>T uc001sml.1 - 2 2103 c.2017C>A c.(2017-2019)CTT>ATT p.L673I RDH16_uc010sqx.1_RNA NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 673 C2H2-type 8; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 ATGAGGTTAAGGGTGGAACTG 0.542 STARD13 90627 broad.mit.edu 37 13 33685935 33685935 + Nonsense_Mutation SNP C A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr13:33685935C>A uc001uuw.2 - 10 2713 c.2587G>T c.(2587-2589)GAA>TAA p.E863* STARD13_uc001uuu.2_Nonsense_Mutation_p.E855*|STARD13_uc001uuv.2_Nonsense_Mutation_p.E745*|STARD13_uc001uux.2_Nonsense_Mutation_p.E828*|STARD13_uc010tec.1_RNA NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 863 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTGTCGCATTCCATGATCATG 0.478 SLC15A1 6564 broad.mit.edu 37 13 99337143 99337143 + Silent SNP C T T rs143994270 by1000genomes TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr13:99337143C>T uc001vno.2 - 23 2039 c.1962G>A c.(1960-1962)GCG>GCA p.A654A NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 654 Helical; (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CCAGAAGCAACGCGGCAAATA 0.418 ASB2 51676 broad.mit.edu 37 14 94419793 94419793 + Missense_Mutation SNP G A A rs113529772 TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr14:94419793G>A uc001ycc.1 - 3 884 c.395C>T c.(394-396)ACG>ATG p.T132M ASB2_uc001ycd.2_Missense_Mutation_p.T180M|ASB2_uc001yce.1_Missense_Mutation_p.T78M NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 132 ANK 3. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCCCCTGCACGTTGCCAAGTA 0.587 JAG2 3714 broad.mit.edu 37 14 105622189 105622189 + Missense_Mutation SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr14:105622189C>T uc001yqg.2 - 4 1017 c.613G>A c.(613-615)GCC>ACC p.A205T JAG2_uc001yqh.2_Missense_Mutation_p.A205T NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 205 DSL.|Extracellular (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TTGCAAGTGGCGCTGTAGTAG 0.627 ADAM6 8755 broad.mit.edu 37 14 106357638 106357638 + Splice_Site SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr14:106357638G>A uc010tyt.1 - 3040 c.48791_splice c.e3040+1 KIAA0125_uc001ysq.2_Intron|KIAA0125_uc001ysr.2_Intron Parts of antibodies, mostly variable regions. 0 CCCTTGCTGGGGTCAGTGCCC 0.592 AQR 9716 broad.mit.edu 37 15 35193048 35193048 + Missense_Mutation SNP A G G TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr15:35193048A>G uc001ziv.2 - 20 2199 c.2018T>C c.(2017-2019)ATT>ACT p.I673T NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 673 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) CAGGTTCCGAATAGTCTCCAG 0.448 THBS1 7057 broad.mit.edu 37 15 39879564 39879564 + Silent SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr15:39879564C>T uc001zkh.2 + 8 1316 c.1137C>T c.(1135-1137)GAC>GAT p.D379D THBS1_uc010bbi.2_5'Flank NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 379 TSP type-1 1. 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) ACTCTGCGGACGATGGCTGGT 0.567 SPTBN5 51332 broad.mit.edu 37 15 42164092 42164092 + Frame_Shift_Del DEL A - - TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr15:42164092delA uc001zos.2 - 28 5417 c.5084delT c.(5083-5085)CTGfs p.L1695fs NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1730 Spectrin 14. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ATGCAGCCTCAGGGTCCCCTC 0.677 ITFG3 83986 broad.mit.edu 37 16 315018 315018 + Silent SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr16:315018G>A uc002cgf.2 + 13 1851 c.1656G>A c.(1654-1656)GCG>GCA p.A552A ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.2_Silent_p.A552A NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 552 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) AGAGTGAGGCGTAGAGGCACG 0.647 PTX4 390667 broad.mit.edu 37 16 1537647 1537647 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr16:1537647G>A uc010uvf.1 - 2 451 c.451C>T c.(451-453)CGC>TGC p.R151C NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 156 extracellular region metal ion binding 0 CCCTCCAGGCGTGCCAGTGAG 0.741 CIITA 4261 broad.mit.edu 37 16 10997663 10997663 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr16:10997663G>A uc002dai.3 + 9 981 c.848G>A c.(847-849)CGG>CAG p.R283Q CIITA_uc002daj.3_Missense_Mutation_p.R284Q|CIITA_uc002dak.3_Missense_Mutation_p.R234Q|CIITA_uc002dag.2_Missense_Mutation_p.R283Q|CIITA_uc002dah.2_Missense_Mutation_p.R235Q|CIITA_uc010bup.1_Missense_Mutation_p.R283Q NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 283 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 TCTCCAGACCGGCCAGGCTCC 0.627 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| ERN2 10595 broad.mit.edu 37 16 23718095 23718095 + Missense_Mutation SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr16:23718095C>T uc002dma.3 - 6 780 c.611G>A c.(610-612)CGC>CAC p.R204H ERN2_uc010bxp.2_Missense_Mutation_p.R204H|ERN2_uc010bxq.1_Missense_Mutation_p.R12H NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 156 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AATGTAGAGGCGGGGGGTGGA 0.607 C16orf82 162083 broad.mit.edu 37 16 27078770 27078770 + Frame_Shift_Del DEL G - - TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr16:27078770delG uc010vcm.1 + 1 552 c.454delG c.(454-456)GGGfs p.G152fs NM_001145545 NP_001139017 Q7Z2V1 TNT_HUMAN hypothetical protein LOC162083 215 0 GCAGACTGGAGGGAAAGAGTG 0.652 PHF23 79142 broad.mit.edu 37 17 7139423 7139423 + Silent SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr17:7139423G>A uc002gfa.2 - 4 1050 c.823C>T c.(823-825)CTG>TTG p.L275L DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Silent_p.L208L|PHF23_uc010cma.2_Silent_p.L145L NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN PHD finger protein 23 275 zinc ion binding 0 GGTGTTGGCAGCACAGGGACT 0.488 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G A A rs121912651 TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr17:7577539G>A uc002gim.2 - 7 936 c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577 R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYH1 4619 broad.mit.edu 37 17 10398535 10398535 + Missense_Mutation SNP C G G TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr17:10398535C>G uc002gmo.2 - 36 5363 c.5269G>C c.(5269-5271)GAG>CAG p.E1757Q uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1757 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TTGGCCTTCTCTTCTGCATTG 0.473 KRT14 3861 broad.mit.edu 37 17 39742796 39742796 + Silent SNP A C C TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr17:39742796A>C uc002hxf.1 - 1 352 c.291T>G c.(289-291)GGT>GGG p.G97G JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Silent_p.G97G NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 97 Head. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) caaagccaccacccaagccag 0.353 SLC25A10 1468 broad.mit.edu 37 17 79687107 79687107 + Nonstop_Mutation SNP A C C TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr17:79687107A>C uc002kbi.2 + 11 950 c.864A>C c.(862-864)TGA>TGC p.*288C SLC25A10_uc010wut.1_Nonstop_Mutation_p.*443C|SLC25A10_uc010dif.2_Nonstop_Mutation_p.*297C|SLC25A10_uc010wuu.1_Nonstop_Mutation_p.*242C NM_012140 NP_036272 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; 288 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) TGCCATCCTGACCAGCCGTGG 0.607 MIER2 54531 broad.mit.edu 37 19 313632 313632 + Missense_Mutation SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr19:313632C>T uc002lok.1 - 8 676 c.667G>A c.(667-669)GAA>AAA p.E223K NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 223 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTGGTCTTCGTTCTCGTAG 0.622 TUBB4 10382 broad.mit.edu 37 19 6495601 6495601 + Silent SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr19:6495601G>A uc002mfg.1 - 4 1016 c.909C>T c.(907-909)TGC>TGT p.C303C TUBB4_uc002mff.1_Silent_p.C231C|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 303 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) GGCGCGGGTCGCACGCCGCCA 0.677 MUC16 94025 broad.mit.edu 37 19 9089511 9089511 + Silent SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr19:9089511G>A uc002mkp.2 - 1 2508 c.2304C>T c.(2302-2304)GCC>GCT p.A768A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 768 Thr-rich.|Extracellular (Potential). 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 AGGAAAGAACGGCTGAGCTGG 0.483 DCAF15 90379 broad.mit.edu 37 19 14071180 14071180 + Silent SNP G C C TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr19:14071180G>C uc002mxt.2 + 11 1614 c.1608G>C c.(1606-1608)CTG>CTC p.L536L DCAF15_uc002mxu.2_RNA NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 536 central_nervous_system(1) 1 TAGGCGACCTGACTGAGGTCA 0.637 OREG0025301 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KCNK3 3777 broad.mit.edu 37 2 26950539 26950539 + Silent SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr2:26950539C>T uc002rhn.2 + 2 451 c.288C>T c.(286-288)TAC>TAT p.Y96Y NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 96 synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCAGGCTACGGGCACGCGG 0.632 DDX18 8886 broad.mit.edu 37 2 118587017 118587017 + Missense_Mutation SNP C A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr2:118587017C>A uc002tlh.1 + 13 1944 c.1845C>A c.(1843-1845)TTC>TTA p.F615L NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 615 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 CATTTGGTTTCAAGGTGCCTC 0.398 XRN2 22803 broad.mit.edu 37 20 21367621 21367621 + Silent SNP C A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr20:21367621C>A uc002wsf.1 + 29 2859 c.2764C>A c.(2764-2766)CGA>AGA p.R922R XRN2_uc002wsg.1_Silent_p.R846R|XRN2_uc010zsk.1_Silent_p.R868R|XRN2_uc002wsh.1_Silent_p.R60R NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 922 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 TCCACCCAGACGAGATGATCG 0.502 FRG1B 284802 broad.mit.edu 37 20 29628229 29628230 + Frame_Shift_Ins INS - A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr20:29628229_29628230insA uc010ztl.1 + 3 173_174 c.141_142insA c.(139-144)GGGAAAfs p.G47fs FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_5'UTR Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 TCACTTAGGGGAAAATGGCTTT 0.322 MMP9 4318 broad.mit.edu 37 20 44639885 44639885 + Silent SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr20:44639885C>T uc002xqz.2 + 5 772 c.753C>T c.(751-753)GAC>GAT p.D251D NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 251 Fibronectin type-II 1. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) GTCGCTCCGACGGCTTGCCCT 0.657 ARFGEF2 10564 broad.mit.edu 37 20 47639713 47639713 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr20:47639713G>A uc002xtx.3 + 35 4902 c.4750G>A c.(4750-4752)GCC>ACC p.A1584T ARFGEF2_uc010zyf.1_Missense_Mutation_p.A877T NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1584 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CATGGTTGCCGCCCAGGTAAG 0.413 HRH3 11255 broad.mit.edu 37 20 60791534 60791534 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr20:60791534G>A uc002ycf.2 - 3 1163 c.866C>T c.(865-867)GCG>GTG p.A289V HRH3_uc002ycg.2_Intron|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Missense_Mutation_p.A289V NM_007232 NP_009163 Q9Y5N1 HRH3_HUMAN histamine receptor H3 289 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) CCCGAGGGTCGCCTCCCCGGC 0.736 TMPRSS15 5651 broad.mit.edu 37 21 19642347 19642347 + Missense_Mutation SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr21:19642347C>T uc002ykw.2 - 25 3030 c.2999G>A c.(2998-3000)CGC>CAC p.R1000H NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 1000 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 CACTCCGGGGCGATTAGGCAG 0.448 AIFM3 150209 broad.mit.edu 37 22 21332217 21332217 + Missense_Mutation SNP A T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr22:21332217A>T uc002ztj.2 + 16 1618 c.1400A>T c.(1399-1401)GAT>GTT p.D467V AIFM3_uc002ztk.2_Missense_Mutation_p.D467V|AIFM3_uc002ztl.2_Missense_Mutation_p.D473V|AIFM3_uc011ahx.1_Missense_Mutation_p.D455V|AIFM3_uc002ztm.1_Missense_Mutation_p.D279V|LZTR1_uc002ztn.2_5'Flank NM_144704 NP_653305 Q96NN9 AIFM3_HUMAN apoptosis-inducing factor, 467 FAD (Potential). activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport endoplasmic reticulum|mitochondrial inner membrane 2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding ovary(2)|lung(2) 4 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GCAGCTGGCGATGCTGTCACC 0.582 UBP1 7342 broad.mit.edu 37 3 33454282 33454282 + Missense_Mutation SNP T C C TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr3:33454282T>C uc003cfq.3 - 4 910 c.380A>G c.(379-381)CAA>CGA p.Q127R UBP1_uc003cfr.3_Missense_Mutation_p.Q127R|UBP1_uc010hga.2_Missense_Mutation_p.Q127R NM_014517 NP_055332 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) isoform a 127 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity kidney(2) 2 CTCTGTGTATTGTAGCCGTCT 0.438 TMF1 7110 broad.mit.edu 37 3 69097485 69097485 + Missense_Mutation SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr3:69097485C>T uc003dnn.2 - 2 618 c.371G>A c.(370-372)CGA>CAA p.R124Q TMF1_uc011bfx.1_Missense_Mutation_p.R124Q NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 124 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) TTCTTCTGGTCGTTGTGATTT 0.418 IQCG 84223 broad.mit.edu 37 3 197616555 197616555 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr3:197616555G>A uc003fyo.2 - 11 1374 c.1228C>T c.(1228-1230)CGG>TGG p.R410W IQCG_uc003fyn.2_Missense_Mutation_p.R312W|IQCG_uc003fyp.2_Missense_Mutation_p.R410W|IQCG_uc003fym.2_Missense_Mutation_p.R111W NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 410 IQ. 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) ATTTCTCTCCGTATCATAGTG 0.463 NPFFR2 10886 broad.mit.edu 37 4 72897628 72897628 + Missense_Mutation SNP T A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr4:72897628T>A uc003hgg.2 + 1 108 c.10T>A c.(10-12)TTC>ATC p.F4I NPFFR2_uc010iig.1_5'UTR NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 4 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TATGAATAGCTTCTTCGGAAC 0.562 ROPN1L 83853 broad.mit.edu 37 5 10461398 10461398 + Missense_Mutation SNP T G G TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr5:10461398T>G uc003jex.3 + 4 791 c.520T>G c.(520-522)TAC>GAC p.Y174D NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 174 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 CGTTTACCGCTACTTGGCCAG 0.527 VCAN 1462 broad.mit.edu 37 5 82816676 82816676 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr5:82816676G>A uc003kii.3 + 7 2907 c.2551G>A c.(2551-2553)GCA>ACA p.A851T VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A851T|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 851 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGAAGATGGAGCAGATGAATT 0.408 ADAMTS2 9509 broad.mit.edu 37 5 178555036 178555036 + Silent SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr5:178555036G>A uc003mjw.2 - 17 2541 c.2541C>T c.(2539-2541)AAC>AAT p.N847N NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 847 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CTTCCAGGACGTTGTTGTCGT 0.587 OR2B6 26212 broad.mit.edu 37 6 27925491 27925491 + Missense_Mutation SNP G T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr6:27925491G>T uc011dkx.1 + 1 473 c.473G>T c.(472-474)TGG>TTG p.W158L NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AACTCAGTGTGGTTGTCTACC 0.493 APOBEC2 10930 broad.mit.edu 37 6 41029317 41029317 + Missense_Mutation SNP T C C TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr6:41029317T>C uc003opl.2 + 2 529 c.382T>C c.(382-384)TGT>CGT p.C128R UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_RNA NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 128 Zinc; catalytic. DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding 0 Ovarian(28;0.0418)|Colorectal(47;0.196) CTCCAGCCCCTGTGCAGCGTG 0.572 PNLDC1 154197 broad.mit.edu 37 6 160240043 160240043 + Nonsense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr6:160240043G>A uc003qsx.1 + 17 1461 c.1290G>A c.(1288-1290)TGG>TGA p.W430* PNLDC1_uc003qsy.1_Nonsense_Mutation_p.W441* NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 430 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TCAAAAGGTGGCCTGGGGTCA 0.463 PRPS1L1 221823 broad.mit.edu 37 7 18066638 18066638 + Silent SNP T A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr7:18066638T>A uc003stz.2 - 1 849 c.768A>T c.(766-768)CCA>CCT p.P256P NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 256 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) GAGAAATGGCTGGGCCAGAAA 0.448 SAMD9 54809 broad.mit.edu 37 7 92730646 92730646 + Missense_Mutation SNP C G G TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr7:92730646C>G uc003umf.2 - 3 5021 c.4765G>C c.(4765-4767)GTT>CTT p.V1589L SAMD9_uc003umg.2_Missense_Mutation_p.V1589L NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1589 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GGCTCTTAAACAATTTCAATG 0.378 EGR3 1960 broad.mit.edu 37 8 22550311 22550311 + Missense_Mutation SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr8:22550311C>T uc003xcm.1 - 1 505 c.147G>A c.(145-147)ATG>ATA p.M49I EGR3_uc011kzn.1_5'Flank|EGR3_uc011kzo.1_5'Flank NM_004430 NP_004421 Q06889 EGR3_HUMAN early growth response 3 49 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) TACCTGTAGCCATCTGATTGT 0.338 CNGB3 54714 broad.mit.edu 37 8 87666239 87666239 + Splice_Site SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr8:87666239C>T uc003ydx.2 - 7 949 c.903_splice c.e7+1 p.Q301_splice CNGB3_uc010maj.2_Splice_Site_p.Q163_splice NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TTGTCACCTACCTGAAATTTT 0.294 RGS22 26166 broad.mit.edu 37 8 101065160 101065160 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr8:101065160G>A uc003yjb.1 - 10 1754 c.1559C>T c.(1558-1560)GCT>GTT p.A520V RGS22_uc003yja.1_Missense_Mutation_p.A339V|RGS22_uc003yjc.1_Missense_Mutation_p.A508V|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 520 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TTCAGCACTAGCATATTTTGT 0.393 DMRT3 58524 broad.mit.edu 37 9 990870 990870 + Silent SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr9:990870C>T uc003zgw.1 + 2 1322 c.1284C>T c.(1282-1284)CGC>CGT p.R428R NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 428 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.R428C(1) ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TTCCTGCCCGCGCCACGGAAG 0.552 GAPVD1 26130 broad.mit.edu 37 9 128092422 128092422 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chr9:128092422G>A uc010mwx.2 + 13 2424 c.2098G>A c.(2098-2100)GAC>AAC p.D700N GAPVD1_uc011lzs.1_Missense_Mutation_p.D700N|GAPVD1_uc004bpp.2_Missense_Mutation_p.D700N|GAPVD1_uc004bpq.2_Missense_Mutation_p.D700N|GAPVD1_uc004bpr.2_Missense_Mutation_p.D679N|GAPVD1_uc004bps.2_Missense_Mutation_p.D700N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D559N NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 700 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 AGTGCTTCTTGACCCCTGCAC 0.478 PNPLA4 8228 broad.mit.edu 37 X 7870101 7870101 + Nonsense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chrX:7870101G>A uc011mhq.1 - 6 721 c.559C>T c.(559-561)CGA>TGA p.R187* PNPLA4_uc011mhr.1_Nonsense_Mutation_p.R187*|PNPLA4_uc011mhs.1_Nonsense_Mutation_p.R100* NM_004650 NP_004641 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 187 lipid catabolic process triglyceride lipase activity 0 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) ATGTCCAGTCGTCCACTGAAG 0.512 SMS 6611 broad.mit.edu 37 X 21995314 21995314 + Silent SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chrX:21995314G>A uc004dag.2 + 5 566 c.465G>A c.(463-465)TCG>TCA p.S155S SMS_uc011mjq.1_Silent_p.S59S|SMS_uc004daf.1_Silent_p.S102S|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank NM_004595 NP_004586 P52788 SPSY_HUMAN spermine synthase 155 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity ovary(1) 1 Spermine(DB00127) TTCTACACTCGAAGCAGTTTG 0.433 MAOB 4129 broad.mit.edu 37 X 43628565 43628565 + Missense_Mutation SNP C G G TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chrX:43628565C>G uc004dfz.3 - 13 1512 c.1336G>C c.(1336-1338)GCA>CCA p.A446P MAOB_uc011mkx.1_Missense_Mutation_p.S397T|MAOB_uc011mky.1_Missense_Mutation_p.A430P NM_000898 NP_000889 P27338 AOFB_HUMAN monoamine oxidase B 446 Cytoplasmic. xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity ovary(1)|central_nervous_system(1) 2 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TCTCGGGCTGCTCTCTCCCCG 0.572 CFP 5199 broad.mit.edu 37 X 47486225 47486225 + Missense_Mutation SNP C G G TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chrX:47486225C>G uc004dig.3 - 6 1013 c.887G>C c.(886-888)TGT>TCT p.C296S CFP_uc004dih.2_Missense_Mutation_p.C296S|CFP_uc004dii.1_Missense_Mutation_p.C232S|CFP_uc010nhu.2_Missense_Mutation_p.C296S NM_001145252 NP_001138724 P27918 PROP_HUMAN complement factor properdin precursor 296 TSP type-1 4. complement activation, alternative pathway|defense response to bacterium extracellular space breast(2)|lung(1) 3 ATCGCCAGCACAGAAGGGGCC 0.642 DGAT2L6 347516 broad.mit.edu 37 X 69421881 69421881 + Missense_Mutation SNP G A A TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chrX:69421881G>A uc004dxx.1 + 5 711 c.614G>A c.(613-615)CGT>CAT p.R205H NM_198512 NP_940914 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 205 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1) 1 CTCAAGCAGCGTAAAGGTTTT 0.547 ATP7A 538 broad.mit.edu 37 X 77296145 77296145 + Missense_Mutation SNP G T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chrX:77296145G>T uc004ecx.3 + 19 3875 c.3715G>T c.(3715-3717)GCT>TCT p.A1239S NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1239 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 AGCAGAACTGGCTATCCATAT 0.413 TMSB15A 11013 broad.mit.edu 37 X 101770022 101770022 + Missense_Mutation SNP C T T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chrX:101770022C>T uc004eje.2 - 2 193 c.70G>A c.(70-72)GAA>AAA p.E24K NM_021992 NP_068832 P0CG34 TB15A_HUMAN thymosin-like 8 24 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding 0 TTTTTTTCTTCAGTATTAGTT 0.368 GPRASP2 114928 broad.mit.edu 37 X 101970131 101970131 + Missense_Mutation SNP A G G TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chrX:101970131A>G uc004ejk.2 + 4 1668 c.334A>G c.(334-336)ACT>GCT p.T112A GPRASP2_uc004ejl.2_Missense_Mutation_p.T112A|GPRASP2_uc004ejm.2_Missense_Mutation_p.T112A|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 112 cytoplasm protein binding ovary(1) 1 TCGTTCTAAAACTGATGCCAA 0.572 RAB9B 51209 broad.mit.edu 37 X 103080388 103080388 + Silent SNP C T T rs142893082 byFrequency TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6a8f17c6-060d-492e-8a39-53d9ac7035a4 43e20ea7-844f-4f2c-a1c2-a02e44e591d5 g.chrX:103080388C>T uc004ell.1 - 3 612 c.327G>A c.(325-327)GCG>GCA p.A109A RAB9B_uc004eli.1_Intron NM_016370 NP_057454 Q9NP90 RAB9B_HUMAN RAB9B, member RAS oncogene family 109 Golgi to endosome transport|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(3) 3 CCTTCACATCCGCATAGTAAA 0.488