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 EPHA10 284656 broad.mit.edu 37 1 38227382 38227382 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:38227382G>A uc009vvi.2 - 3 631 c.545C>T c.(544-546)CCG>CTG p.P182L EPHA10_uc001cbw.3_Missense_Mutation_p.P182L NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 182 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCGGCTGAGCGGTCCGATCTC 0.657 SLC2A1 6513 broad.mit.edu 37 1 43396302 43396302 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:43396302C>T uc001cik.2 - 4 1036 c.511G>A c.(511-513)GCC>ACC p.A171T NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 171 Helical; Name=5; (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) CTTACCTGGGCGATGAGGATG 0.642 KLF17 128209 broad.mit.edu 37 1 44595024 44595024 + Splice_Site SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:44595024G>A uc001clp.2 + 2 140 c.82_splice c.e2-1 p.D28_splice KLF17_uc009vxf.1_Splice_Site NM_173484 NP_775755 Q5JT82 KLF17_HUMAN zinc finger protein 393 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) TTTTCCCCAAGGATAACGAGA 0.483 EPHX4 253152 broad.mit.edu 37 1 92495767 92495767 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:92495767G>A uc001don.2 + 1 235 c.131G>A c.(130-132)GGC>GAC p.G44D NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 44 integral to membrane hydrolase activity central_nervous_system(1) 1 TGGAGCCTCGGCAAGGGGCCG 0.677 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T A A rs11554290 TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:115256529T>A uc009wgu.2 - 3 436 c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 GTP. Q -> K (in neuroblastoma cell). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1) haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1) 2607 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458 Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis melanoma|MM|AML|thyroid Noonan_syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A G G rs146714035 by1000genomes TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 NBPF10 100132406 broad.mit.edu 37 1 145367751 145367751 + Silent SNP A T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:145367751A>T uc001end.3 + 85 10607 c.10572A>T c.(10570-10572)GGA>GGT p.G3524G NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3449 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) aaagaaggggaagaagatcaa 0.244 OR6K2 81448 broad.mit.edu 37 1 158669760 158669760 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:158669760C>T uc001fsu.1 - 1 683 c.683G>A c.(682-684)CGT>CAT p.R228H NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TGAATGAATACGTAGAATTAC 0.453 GPR161 23432 broad.mit.edu 37 1 168066138 168066138 + Missense_Mutation SNP C G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:168066138C>G uc001gfc.2 - 5 1021 c.707G>C c.(706-708)AGG>ACG p.R236T GPR161_uc001gfb.2_Missense_Mutation_p.R104T|GPR161_uc010pll.1_Missense_Mutation_p.R146T|GPR161_uc010plm.1_Missense_Mutation_p.R122T|GPR161_uc009wvo.2_Missense_Mutation_p.R253T|GPR161_uc001gfd.2_Missense_Mutation_p.R236T|GPR161_uc010pln.1_Missense_Mutation_p.R256T|GPR161_uc001gfe.1_Missense_Mutation_p.R236T NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 236 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) CCTCCCGGTCCTCTGAGCATC 0.597 CR2 1380 broad.mit.edu 37 1 207644110 207644110 + Silent SNP C A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:207644110C>A uc001hfw.2 + 7 1345 c.1251C>A c.(1249-1251)CTC>CTA p.L417L CR2_uc001hfv.2_Silent_p.L417L|CR2_uc009xch.2_Silent_p.L417L|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 417 Sushi 7.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 CTAACATCCTCAATGGGCAAA 0.418 LYST 1130 broad.mit.edu 37 1 235866229 235866229 + Nonsense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:235866229G>A uc001hxj.2 - 45 10367 c.10192C>T c.(10192-10194)CGA>TGA p.R3398* LYST_uc001hxi.2_Nonsense_Mutation_p.R622* NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3398 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCTAGCGCTCGTCTCTGAACT 0.453 Chediak-Higashi_syndrome RYR2 6262 broad.mit.edu 37 1 237777418 237777418 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:237777418G>A uc001hyl.1 + 37 5110 c.4990G>A c.(4990-4992)GTC>ATC p.V1664I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1664 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTACTCAGCCGTCTGTGCTCT 0.517 RYR2 6262 broad.mit.edu 37 1 237995876 237995876 + Missense_Mutation SNP C G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr1:237995876C>G uc001hyl.1 + 105 14953 c.14833C>G c.(14833-14835)CAA>GAA p.Q4945E RYR2_uc010pyb.1_3'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4945 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAAGATGTATCAAGAAAGGTG 0.383 CUBN 8029 broad.mit.edu 37 10 17146591 17146591 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr10:17146591C>T uc001ioo.2 - 12 1296 c.1244G>A c.(1243-1245)GGT>GAT p.G415D NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 415 EGF-like 6. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACAAAAATAACCAGAGACAGT 0.373 TMEM26 219623 broad.mit.edu 37 10 63170497 63170497 + Missense_Mutation SNP G T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr10:63170497G>T uc001jlo.2 - 6 1059 c.690C>A c.(688-690)AAC>AAA p.N230K TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 230 integral to membrane 0 Prostate(12;0.0112) GGCACACAACGTTCTGTACTG 0.473 PTEN 5728 broad.mit.edu 37 10 89725042 89725042 + Splice_Site SNP A G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr10:89725042A>G uc001kfb.2 + 10 2058 c.1027_splice c.e10-2 p.V343_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.?(6)|p.R55fs*1(4)|p.Y27fs*1(2)|p.N212fs*1(2)|p.G165_*404del(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) TTCTTTCTCTAGGTGAAGCTG 0.333 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) CHRNA10 57053 broad.mit.edu 37 11 3687643 3687643 + Silent SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr11:3687643G>A uc001lyf.2 - 5 1119 c.1047C>T c.(1045-1047)TGC>TGT p.C349C CHRNA10_uc010qxt.1_Silent_p.C143C|CHRNA10_uc010qxu.1_Silent_p.C143C NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 349 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding ovary(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) TTTCCCGCACGCACAGGCCCC 0.667 OR52I2 143502 broad.mit.edu 37 11 4608268 4608268 + Missense_Mutation SNP G A A rs138555035 TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr11:4608268G>A uc010qyh.1 + 1 226 c.226G>A c.(226-228)GTG>ATG p.V76M NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 76 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CACCATCATCGTGACTGCAAT 0.507 OR52I1 390037 broad.mit.edu 37 11 4615416 4615416 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr11:4615416G>A uc010qyi.1 + 1 148 c.148G>A c.(148-150)GTG>ATG p.V50M NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 50 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CACCCTCATCGTGACTGCAAT 0.517 OR52H1 390067 broad.mit.edu 37 11 5566723 5566723 + Missense_Mutation SNP T G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr11:5566723T>G uc010qzh.1 - 1 31 c.31A>C c.(31-33)AAC>CAC p.N11H HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCTCAGGTTGAAAATGATC 0.443 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5626645 5626645 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr11:5626645C>T uc001mbf.2 + 4 926 c.682C>T c.(682-684)CGG>TGG p.R228W HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.R174W|TRIM6_uc010qzj.1_Missense_Mutation_p.R25W|TRIM6_uc001mbc.1_Missense_Mutation_p.R200W|TRIM6_uc001mbe.2_Missense_Mutation_p.R25W|TRIM6_uc010qzk.1_Missense_Mutation_p.R25W|TRIM6_uc010qzl.1_Missense_Mutation_p.R25W|TRIM6_uc001mbd.2_Missense_Mutation_p.R228W|TRIM6_uc001mbg.1_Missense_Mutation_p.R25W|TRIM6_uc009yep.1_Missense_Mutation_p.R25W NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 228 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) AGTGGAGCAACGGGAGCTGAA 0.488 OREG0003723 type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay TRIM6-TRIM34 445372 broad.mit.edu 37 11 5631406 5631406 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr11:5631406G>A uc001mbf.2 + 6 1133 c.889G>A c.(889-891)GCT>ACT p.A297T HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.A243T|TRIM6_uc010qzj.1_Missense_Mutation_p.A94T|TRIM6_uc001mbc.1_Missense_Mutation_p.A269T|TRIM6_uc001mbe.2_Missense_Mutation_p.A94T|TRIM6_uc010qzk.1_Missense_Mutation_p.A94T|TRIM6_uc010qzl.1_Missense_Mutation_p.A94T|TRIM6_uc001mbd.2_Missense_Mutation_p.A297T|TRIM6_uc001mbg.1_Missense_Mutation_p.A94T|TRIM6_uc009yep.1_Missense_Mutation_p.A94T NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 297 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) GAAGCCAGAAGCTCTCCCTAC 0.517 MTNR1B 4544 broad.mit.edu 37 11 92714701 92714701 + Silent SNP C T T rs139515067 TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr11:92714701C>T uc001pdk.1 + 2 415 c.312C>T c.(310-312)GAC>GAT p.D104D NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 104 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) TCTTCTATGACGGCTGGGCCC 0.567 OR8A1 390275 broad.mit.edu 37 11 124440668 124440668 + Missense_Mutation SNP C A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr11:124440668C>A uc010san.1 + 1 704 c.704C>A c.(703-705)ACC>AAC p.T235N NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 235 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GTTTCTTACACCTTCATTCTC 0.493 DDX12 440081 broad.mit.edu 37 12 9574020 9574020 + Silent SNP T C C rs149364690 by1000genomes TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr12:9574020T>C uc010sgs.1 - 20 2211 c.2016A>G c.(2014-2016)CTA>CTG p.L672L DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 ACGTGAATTCTAGCGGCTGGT 0.597 PLEKHA5 54477 broad.mit.edu 37 12 19436597 19436597 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr12:19436597G>A uc001reb.2 + 11 1765 c.1679G>A c.(1678-1680)CGA>CAA p.R560Q PLEKHA5_uc010sie.1_Missense_Mutation_p.R566Q|PLEKHA5_uc001rea.2_Missense_Mutation_p.R560Q|PLEKHA5_uc009zin.2_Missense_Mutation_p.R318Q|PLEKHA5_uc010sif.1_Missense_Mutation_p.R452Q|PLEKHA5_uc010sig.1_Missense_Mutation_p.R452Q|PLEKHA5_uc010sih.1_Missense_Mutation_p.R452Q|PLEKHA5_uc001rec.1_Missense_Mutation_p.R248Q NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 560 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) TCCCCTCAACGAACTTACAGA 0.468 ZFC3H1 196441 broad.mit.edu 37 12 72030416 72030416 + Missense_Mutation SNP C G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr12:72030416C>G uc001swo.2 - 9 2313 c.1954G>C c.(1954-1956)GAC>CAC p.D652H NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 652 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GAAGGTGGGTCACTATTACTG 0.363 C12orf50 160419 broad.mit.edu 37 12 88388465 88388466 + Frame_Shift_Del DEL TA - - TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr12:88388465_88388466delTA uc001tam.1 - 7 704_705 c.536_537delTA c.(535-537)ATAfs p.I179fs C12orf50_uc001tan.2_Frame_Shift_Del_p.I233fs NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 179 skin(2)|ovary(1) 3 ATGATGTTTTTATTTCACCTTG 0.347 CCDC60 160777 broad.mit.edu 37 12 119966451 119966451 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr12:119966451C>T uc001txe.2 + 12 1726 c.1261C>T c.(1261-1263)CGT>TGT p.R421C uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 421 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CCAGAAGTTCCGTGCTTTTGT 0.428 GCN1L1 10985 broad.mit.edu 37 12 120599767 120599767 + Silent SNP A T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr12:120599767A>T uc001txo.2 - 21 2272 c.2259T>A c.(2257-2259)CCT>CCA p.P753P NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 753 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCGCAGTGCAGGGTTCTGCA 0.592 TUBA3C 7278 broad.mit.edu 37 13 19751200 19751200 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr13:19751200C>T uc009zzj.2 - 4 972 c.923G>A c.(922-924)CGC>CAC p.R308H NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 308 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CTTGCCGTGGCGAGGGTCACA 0.587 KLHL1 57626 broad.mit.edu 37 13 70681808 70681808 + Missense_Mutation SNP G T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr13:70681808G>T uc001vip.2 - 1 818 c.24C>A c.(22-24)GAC>GAA p.D8E KLHL1_uc010thm.1_Missense_Mutation_p.D8E|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 8 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TCACATCGAAGTCTTTTCGCC 0.632 CLN5 1203 broad.mit.edu 37 13 77570066 77570066 + Silent SNP A G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr13:77570066A>G uc001vkc.2 + 3 544 c.516A>G c.(514-516)AGA>AGG p.R172R NM_006493 NP_006484 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 123 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) TTGGATTCAGAAGTACATTAA 0.413 SUPT16H 11198 broad.mit.edu 37 14 21822688 21822688 + Missense_Mutation SNP A G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr14:21822688A>G uc001wao.2 - 23 3011 c.2672T>C c.(2671-2673)CTG>CCG p.L891P SUPT16H_uc001wan.2_Missense_Mutation_p.L35P NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 891 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TGTGTATTTCAGGTCGCAGGA 0.338 SIPA1L1 26037 broad.mit.edu 37 14 72055814 72055814 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr14:72055814G>A uc001xms.2 + 2 1573 c.1225G>A c.(1225-1227)GAG>AAG p.E409K SIPA1L1_uc001xmt.2_Missense_Mutation_p.E409K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E409K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E409K NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 409 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TAAAAGCAATGAGCTTGTAAT 0.458 C14orf115 55237 broad.mit.edu 37 14 74823988 74823988 + Missense_Mutation SNP A G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr14:74823988A>G uc001xpw.3 + 2 693 c.502A>G c.(502-504)AGC>GGC p.S168G NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 168 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) CTGTTTCCCCAGCAGCTTCTC 0.597 CALM1 801 broad.mit.edu 37 14 90870850 90870850 + Missense_Mutation SNP A G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr14:90870850A>G uc001xyl.1 + 5 615 c.413A>G c.(412-414)AAC>AGC p.N138S CALM1_uc010atq.1_Missense_Mutation_p.N139S|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_Missense_Mutation_p.N102S NM_006888 NP_008819 P62158 CALM_HUMAN calmodulin 1 isoform 1 138 4.|EF-hand 4. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding central_nervous_system(1) 1 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.208) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) GGACAAGTCAACTATGAAGGT 0.383 PPP4R4 57718 broad.mit.edu 37 14 94700063 94700063 + Nonsense_Mutation SNP T A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr14:94700063T>A uc001ycs.1 + 6 744 c.590T>A c.(589-591)TTA>TAA p.L197* NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 197 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 TGTAAAATTTTAGGAAAATTG 0.308 SERPINA11 256394 broad.mit.edu 37 14 94909543 94909543 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr14:94909543G>A uc001ydd.1 - 4 997 c.937C>T c.(937-939)CCA>TCA p.P313S NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 313 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) GAAAACCTTGGCAAGTGCAAA 0.458 JAG2 3714 broad.mit.edu 37 14 105612833 105612833 + Silent SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr14:105612833G>A uc001yqg.2 - 22 3002 c.2598C>T c.(2596-2598)ATC>ATT p.I866I JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Silent_p.I270I|JAG2_uc001yqh.2_Silent_p.I828I NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 866 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) TCCCGAACCCGATCACTGTGG 0.682 JAG2 3714 broad.mit.edu 37 14 105618019 105618019 + Missense_Mutation SNP G A A rs140813175 TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr14:105618019G>A uc001yqg.2 - 8 1501 c.1097C>T c.(1096-1098)CCG>CTG p.P366L JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Missense_Mutation_p.P366L NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 366 EGF-like 4.|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) GAAGCCGGACGGCACCTCATG 0.667 SLC27A2 11001 broad.mit.edu 37 15 50494831 50494831 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr15:50494831G>A uc001zxw.2 + 3 1068 c.836G>A c.(835-837)TGT>TAT p.C279Y SLC27A2_uc010bes.2_Intron|SLC27A2_uc001zxx.2_Missense_Mutation_p.C44Y NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 279 Helical; (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) ATTCACGGATGTATTGTGGCT 0.428 BLM 641 broad.mit.edu 37 15 91312761 91312761 + Missense_Mutation SNP A T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr15:91312761A>T uc002bpr.2 + 12 2597 c.2500A>T c.(2500-2502)AAT>TAT p.N834Y BLM_uc010uqh.1_Missense_Mutation_p.N834Y|BLM_uc010uqi.1_Missense_Mutation_p.N459Y|BLM_uc010bnx.2_Missense_Mutation_p.N834Y|BLM_uc002bps.1_Missense_Mutation_p.N396Y NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 834 Helicase ATP-binding. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GGCCACAGCTAATCCCAGGGT 0.478 Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome CDH16 1014 broad.mit.edu 37 16 66950022 66950022 + Missense_Mutation SNP G T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr16:66950022G>T uc002eql.2 - 5 443 c.370C>A c.(370-372)CCC>ACC p.P124T CDH16_uc010cdy.2_Missense_Mutation_p.P124T|CDH16_uc002eqm.2_Intron NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 124 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GAGAAATGGGGCACCTGGTCA 0.582 PHLPP2 23035 broad.mit.edu 37 16 71724459 71724459 + Missense_Mutation SNP G C C TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr16:71724459G>C uc002fax.2 - 3 578 c.572C>G c.(571-573)ACT>AGT p.T191S PHLPP2_uc010cgf.2_Missense_Mutation_p.T191S|PHLPP2_uc002fay.1_Missense_Mutation_p.T191S NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 191 PH. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 CATCTTTCCAGTTTGACAATC 0.408 Unknown 0 broad.mit.edu 37 16 90161578 90161578 + Silent SNP G A A rs13337896 by1000genomes TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr16:90161578G>A uc002fqp.2 + 3 931 c.453G>A c.(451-453)ACG>ACA p.T151T uc002fqq.2_Silent_p.T168T Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA. GCCAAGGGACGCTACACCGAA 0.587 MYH3 4621 broad.mit.edu 37 17 10533648 10533648 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr17:10533648G>A uc002gmq.1 - 36 5491 c.5414C>T c.(5413-5415)GCG>GTG p.A1805V NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1805 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 GCCCTTCAGCGCCAGCTGCTC 0.607 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr17:16285788C>T uc002gpx.2 + 2 705 c.567C>T c.(565-567)CCC>CCT p.P189P UBB_uc010vwe.1_Silent_p.P113P NM_018955 NP_061828 P0CG47 UBB_HUMAN ubiquitin B precursor 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552 ANKRD13B 124930 broad.mit.edu 37 17 27939203 27939203 + Silent SNP T A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr17:27939203T>A uc002hei.2 + 11 1283 c.1170T>A c.(1168-1170)ATT>ATA p.I390I ANKRD13B_uc002heh.2_Silent_p.I258I|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'Flank NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 390 0 CCCCCATCATTGACCTCATGG 0.597 MEP1B 4225 broad.mit.edu 37 18 29787380 29787380 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr18:29787380G>A uc002kxj.3 + 8 760 c.713G>A c.(712-714)CGA>CAA p.R238Q NM_005925 NP_005916 Q16820 MEP1B_HUMAN meprin A beta precursor 238 Extracellular (Potential).|Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding ovary(2) 2 ATCGGCCAACGAATGGATTTC 0.388 CBLN2 147381 broad.mit.edu 37 18 70209243 70209243 + Silent SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr18:70209243C>T uc002lku.2 - 2 388 c.153G>A c.(151-153)GCG>GCA p.A51A CBLN2_uc002lkv.2_Silent_p.A51A NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 51 integral to membrane 0 Esophageal squamous(42;0.131) TGTCGTTCTGCGCCCGCACGG 0.607 C19orf21 126353 broad.mit.edu 37 19 758162 758162 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:758162C>T uc002lpo.2 + 2 1299 c.1216C>T c.(1216-1218)CGT>TGT p.R406C NM_173481 NP_775752 Q8IVT2 CS021_HUMAN hypothetical protein LOC126353 406 upper_aerodigestive_tract(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) 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) CCCAGATGCCCGTGCGGCCGA 0.682 GADD45B 4616 broad.mit.edu 37 19 2477591 2477591 + Missense_Mutation SNP G C C TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:2477591G>C uc002lwb.1 + 4 697 c.475G>C c.(475-477)GAA>CAA p.E159Q NM_015675 NP_056490 O75293 GA45B_HUMAN growth arrest and DNA-damage-inducible, beta 159 activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress 0 Hepatocellular(1079;0.137) 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) CTCTCTTCAGGAACGCTGAGG 0.562 CPAMD8 27151 broad.mit.edu 37 19 17086956 17086956 + Silent SNP T C C TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:17086956T>C uc002nfb.2 - 16 1937 c.1905A>G c.(1903-1905)TCA>TCG p.S635S NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 588 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 AATACGTCACTGAAACCTTGG 0.393 B3GNT3 10331 broad.mit.edu 37 19 17918748 17918748 + Silent SNP C T T rs79614823 byFrequency TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:17918748C>T uc002nhk.1 + 2 217 c.132C>T c.(130-132)CCC>CCT p.P44P B3GNT3_uc002nhl.1_Silent_p.P44P|B3GNT3_uc010ebd.1_Silent_p.P44P|B3GNT3_uc010ebe.1_Silent_p.P44P NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 44 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 CGGCGATCCCCGAGGCCCTGG 0.687 ZNF493 284443 broad.mit.edu 37 19 21606457 21606457 + Silent SNP T C C TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:21606457T>C uc002npx.2 + 2 892 c.612T>C c.(610-612)ATT>ATC p.I204I ZNF493_uc002npw.2_Silent_p.I332I|ZNF493_uc002npy.2_Silent_p.I204I NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 204 C2H2-type 7; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCTTTAGTATTTTCTCAACCC 0.348 ZNF208 7757 broad.mit.edu 37 19 22155346 22155346 + Silent SNP T C C TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:22155346T>C uc002nqp.2 - 5 2339 c.2190A>G c.(2188-2190)GAA>GAG p.E730E ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGTAGGGCTTTTCTCCAGCAT 0.373 LSR 51599 broad.mit.edu 37 19 35757850 35757850 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:35757850C>T uc002nyl.2 + 8 1491 c.1268C>T c.(1267-1269)CCC>CTC p.P423L LSR_uc002nym.2_Missense_Mutation_p.P404L|LSR_uc002nyn.2_Missense_Mutation_p.P355L|LSR_uc002nyo.2_Missense_Mutation_p.P403L|LSR_uc010xsr.1_Missense_Mutation_p.P315L|LSR_uc002nyp.2_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 423 Cytoplasmic (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCTGGCCCCCCCAGTGGCCGT 0.622 CEACAM18 729767 broad.mit.edu 37 19 51986389 51986389 + Silent SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:51986389G>A uc002pwv.1 + 5 975 c.975G>A c.(973-975)AAG>AAA p.K325K NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 325 Ig-like C2-type. integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGGATCTCAAGTACCACTGGA 0.512 ZNF534 147658 broad.mit.edu 37 19 52942423 52942423 + Missense_Mutation SNP T A A rs112113280 TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:52942423T>A uc002pzk.2 + 4 1810 c.1749T>A c.(1747-1749)AAT>AAA p.N583K ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.N570K NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 583 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GACATAGGAATATTCATACTG 0.438 ZNF845 91664 broad.mit.edu 37 19 53855879 53855879 + Missense_Mutation SNP C G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:53855879C>G uc010ydv.1 + 4 2068 c.1951C>G c.(1951-1953)CAA>GAA p.Q651E ZNF845_uc010ydw.1_Missense_Mutation_p.Q651E NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 651 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATCAAACCTTCAAAGACATAG 0.398 ZSCAN5B 342933 broad.mit.edu 37 19 56704064 56704064 + Nonsense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr19:56704064G>A uc010ygh.1 - 1 358 c.358C>T c.(358-360)CGA>TGA p.R120* NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 120 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CTGTTATTTCGTAGCAGGTCC 0.537 GRHL1 29841 broad.mit.edu 37 2 10102621 10102621 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr2:10102621G>A uc002raa.2 + 5 878 c.707G>A c.(706-708)GGC>GAC p.G236D GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Intron|GRHL1_uc010yjb.1_Missense_Mutation_p.G85D NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 236 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) CGGATGCCTGGCATGAATTCA 0.358 CCDC85A 114800 broad.mit.edu 37 2 56420095 56420095 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr2:56420095G>A uc002rzn.2 + 2 1262 c.760G>A c.(760-762)GCC>ACC p.A254T NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 254 His-rich. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCACAGGAGCGCCAGCCCCGA 0.657 SULT1C3 442038 broad.mit.edu 37 2 108872031 108872031 + Missense_Mutation SNP G T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr2:108872031G>T uc010ywo.1 + 4 403 c.403G>T c.(403-405)GTC>TTC p.V135F NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 135 cytoplasm alcohol sulfotransferase activity skin(1) 1 ATTTCAGATTGTCTATGTGGC 0.413 SLC4A10 57282 broad.mit.edu 37 2 162813661 162813661 + Nonsense_Mutation SNP A T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr2:162813661A>T uc002ubx.3 + 20 2888 c.2704A>T c.(2704-2706)AAA>TAA p.K902* SLC4A10_uc002uby.3_Nonsense_Mutation_p.K872*|SLC4A10_uc010zcs.1_Nonsense_Mutation_p.K883* NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 902 Extracellular (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 AGAACAACCCAAATTTCTCGG 0.448 SCN9A 6335 broad.mit.edu 37 2 167141278 167141278 + Missense_Mutation SNP A T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr2:167141278A>T uc010fpl.2 - 12 2000 c.1659T>A c.(1657-1659)AGT>AGA p.S553R uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S424R|SCN9A_uc002uds.1_Missense_Mutation_p.S424R|SCN9A_uc002udt.1_Missense_Mutation_p.S424R NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 553 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) AACTAAAAAGACTTGTTCTGC 0.443 TTN 7273 broad.mit.edu 37 2 179456812 179456812 + Missense_Mutation SNP T A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr2:179456812T>A uc010zfg.1 - 251 52339 c.52115A>T c.(52114-52116)CAT>CTT p.H17372L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.H11067L|TTN_uc010zfi.1_Missense_Mutation_p.H11000L|TTN_uc010zfj.1_Missense_Mutation_p.H10875L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18299 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCATTCAGATGCTTAGCGAA 0.463 ACTR5 79913 broad.mit.edu 37 20 37383758 37383758 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr20:37383758C>T uc002xjd.2 + 4 959 c.934C>T c.(934-936)CGG>TGG p.R312W NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 312 Potential. DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) CAATGCCCGGCGGCGGGAGGA 0.597 SALL4 57167 broad.mit.edu 37 20 50400910 50400910 + Missense_Mutation SNP G C C TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr20:50400910G>C uc002xwh.3 - 4 3157 c.3056C>G c.(3055-3057)TCC>TGC p.S1019C SALL4_uc010gii.2_Missense_Mutation_p.S582C|SALL4_uc002xwi.3_Missense_Mutation_p.S242C NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 1019 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ACCCGACTGGGAGCCATCCAT 0.542 PRIC285 85441 broad.mit.edu 37 20 62195800 62195800 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr20:62195800C>T uc002yfm.2 - 9 5267 c.4375G>A c.(4375-4377)GAG>AAG p.E1459K PRIC285_uc002yfl.1_Missense_Mutation_p.E890K NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1459 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) TCCGCCTCCTCGTAGGACAGC 0.682 PMM1 5372 broad.mit.edu 37 22 41974860 41974860 + Missense_Mutation SNP A G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr22:41974860A>G uc003bal.2 - 6 562 c.500T>C c.(499-501)GTG>GCG p.V167A NM_002676 NP_002667 Q92871 PMM1_HUMAN phosphomannomutase 1 167 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity ovary(1) 1 CAGGGCTTCCACGAACTTCTC 0.468 SLC4A7 9497 broad.mit.edu 37 3 27431585 27431585 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr3:27431585C>T uc003cdv.2 - 22 3241 c.3170G>A c.(3169-3171)CGT>CAT p.R1057H SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.R938H|SLC4A7_uc011aww.1_Missense_Mutation_p.R1066H|SLC4A7_uc011awx.1_Missense_Mutation_p.R1053H|SLC4A7_uc011awy.1_Missense_Mutation_p.R1049H|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.R938H|SLC4A7_uc011axb.1_Missense_Mutation_p.R1053H|SLC4A7_uc010hfl.2_Missense_Mutation_p.R607H|SLC4A7_uc003cdw.2_Missense_Mutation_p.R933H NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 1057 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 TAATTTTATACGGTCAAATAA 0.328 MST1R 4486 broad.mit.edu 37 3 49939965 49939965 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr3:49939965C>T uc003cxy.3 - 1 1342 c.1078G>A c.(1078-1080)GTG>ATG p.V360M MST1R_uc011bdd.1_Missense_Mutation_p.V360M|MST1R_uc011bde.1_Missense_Mutation_p.V360M|MST1R_uc011bdf.1_Missense_Mutation_p.V360M|MST1R_uc011bdg.1_Missense_Mutation_p.V360M NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 360 Extracellular (Potential).|Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TTGGGGCCCACGCCAGGACCA 0.587 ITIH1 3697 broad.mit.edu 37 3 52816072 52816072 + Silent SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr3:52816072C>T uc003dfs.2 + 7 828 c.804C>T c.(802-804)TGC>TGT p.C268C ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_5'Flank|ITIH1_uc010hmo.1_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 268 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) ACAAGATCTGCGACCTCCTGG 0.587 SORCS2 57537 broad.mit.edu 37 4 7666134 7666134 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr4:7666134C>T uc003gkb.3 + 7 1007 c.1007C>T c.(1006-1008)GCC>GTC p.A336V SORCS2_uc011bwi.1_Missense_Mutation_p.A164V NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 336 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 ATGCTGACAGCCCCATTCGCA 0.557 GC 2638 broad.mit.edu 37 4 72618353 72618353 + Missense_Mutation SNP A G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr4:72618353A>G uc003hge.2 - 11 1430 c.1277T>C c.(1276-1278)CTA>CCA p.L426P GC_uc003hgd.2_Missense_Mutation_p.L304P|GC_uc010iie.2_Missense_Mutation_p.L426P|GC_uc010iif.2_Missense_Mutation_p.L445P NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 426 Albumin 3. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TTTTGCTTTTAGTCGCTCTGC 0.388 FAM190A 401145 broad.mit.edu 37 4 91230163 91230163 + Missense_Mutation SNP A T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr4:91230163A>T uc003hsv.3 + 2 1068 c.728A>T c.(727-729)CAA>CTA p.Q243L FAM190A_uc003hsu.3_Missense_Mutation_p.Q243L|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.Q243L NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 243 large_intestine(1)|ovary(1) 2 AGCTCTTTACAATCTCCTTTG 0.418 C4orf21 55345 broad.mit.edu 37 4 113481967 113481967 + Missense_Mutation SNP G T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr4:113481967G>T uc003iau.2 - 19 5093 c.4882C>A c.(4882-4884)CAA>AAA p.Q1628K C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.Q86K NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 450 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GCCATCATTTGAGCTATTTGA 0.378 ANK2 287 broad.mit.edu 37 4 114251469 114251469 + Missense_Mutation SNP C G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr4:114251469C>G uc003ibe.3 + 27 3068 c.2968C>G c.(2968-2970)CGA>GGA p.R990G ANK2_uc003ibd.3_Missense_Mutation_p.R981G|ANK2_uc003ibf.3_Missense_Mutation_p.R990G|ANK2_uc011cgc.1_Missense_Mutation_p.R199G|ANK2_uc003ibg.3_Missense_Mutation_p.R18G|ANK2_uc003ibc.2_Missense_Mutation_p.R966G|ANK2_uc011cgb.1_Missense_Mutation_p.R1005G NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 990 ZU5.|Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAATGGGCTCCGAATCATTAT 0.473 C4orf43 55319 broad.mit.edu 37 4 164415798 164415798 + Translation_Start_Site SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr4:164415798C>T uc003iqq.3 + 1 126 c.-155C>T c.(-157--153)AACGC>AATGC NM_018352 NP_060822 Q96EY4 CD043_HUMAN hypothetical protein LOC55319 0 TTTAGAGAAACGCACTCGCCT 0.632 MYO10 4651 broad.mit.edu 37 5 16769271 16769271 + Silent SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr5:16769271C>T uc003jft.3 - 10 1440 c.972G>A c.(970-972)CGG>CGA p.R324R MYO10_uc010itx.2_5'Flank NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 324 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TCGACACTTCCCGAACTTCCT 0.413 TSSK1B 83942 broad.mit.edu 37 5 112769636 112769636 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr5:112769636C>T uc003kqm.2 - 1 1093 c.901G>A c.(901-903)GAA>AAA p.E301K MCC_uc003kql.3_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1 301 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|skin(2)|stomach(1) 5 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GAGCCAGGTTCGGGGGTCCAC 0.622 PCDHGA1 56114 broad.mit.edu 37 5 140711854 140711854 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr5:140711854C>T uc003lji.1 + 1 1603 c.1603C>T c.(1603-1605)CGG>TGG p.R535W PCDHGA1_uc011dan.1_Missense_Mutation_p.R535W NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 535 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGATGGCGCGGGACAGTGG 0.602 FBXO38 81545 broad.mit.edu 37 5 147782003 147782003 + Silent SNP A G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr5:147782003A>G uc003lpf.1 + 5 639 c.519A>G c.(517-519)GGA>GGG p.G173G FBXO38_uc003lpg.1_Silent_p.G173G|FBXO38_uc003lph.2_Silent_p.G173G NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 173 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCGTAATGGAGCTTTTCCAA 0.363 EXOC2 55770 broad.mit.edu 37 6 619481 619481 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr6:619481C>T uc003mtd.2 - 5 619 c.485G>A c.(484-486)AGT>AAT p.S162N EXOC2_uc003mte.2_Missense_Mutation_p.S162N|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 162 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GAAATTCTCACTTGTAAAATC 0.378 HLA-DQA2 3118 broad.mit.edu 37 6 32713607 32713607 + Missense_Mutation SNP C T T rs144060347 TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr6:32713607C>T uc003obx.2 + 3 429 c.371C>T c.(370-372)ACG>ATG p.T124M NM_020056 NP_064440 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ 124 Alpha-2.|Extracellular (Potential).|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTCCTGTGACGCTGGGTCAG 0.507 BRPF3 27154 broad.mit.edu 37 6 36175096 36175096 + Frame_Shift_Del DEL C - - TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr6:36175096delC uc003olv.3 + 4 1836 c.1612delC c.(1612-1614)CAGfs p.Q538fs BRPF3_uc010jwb.2_Frame_Shift_Del_p.Q538fs|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Frame_Shift_Del_p.Q538fs NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 538 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 GTAGCGAGAGCAGGATGAGAA 0.547 BMP5 653 broad.mit.edu 37 6 55620351 55620351 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr6:55620351G>A uc003pcq.2 - 7 2057 c.1345C>T c.(1345-1347)CGC>TGC p.R449C BMP5_uc011dxf.1_Missense_Mutation_p.R412C NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 449 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CCACATGAGCGTACTACCATA 0.328 C6orf167 253714 broad.mit.edu 37 6 97613246 97613246 + Nonsense_Mutation SNP G A A rs146474162 by1000genomes TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr6:97613246G>A uc003ppb.2 - 21 3363 c.3097C>T c.(3097-3099)CGA>TGA p.R1033* C6orf167_uc011eaf.1_Nonsense_Mutation_p.R993* NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 1033 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) GGAAGAAATCGCCCAATATAC 0.393 GRIK2 2898 broad.mit.edu 37 6 102483322 102483322 + Missense_Mutation SNP C G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr6:102483322C>G uc003pqp.3 + 14 2441 c.2192C>G c.(2191-2193)TCT>TGT p.S731C GRIK2_uc003pqo.3_Missense_Mutation_p.S731C|GRIK2_uc010kcw.2_Missense_Mutation_p.S731C NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 731 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GTCCTCACCTCTGATTATGCT 0.443 PCLO 27445 broad.mit.edu 37 7 82508670 82508670 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr7:82508670G>A uc003uhx.2 - 10 13926 c.13637C>T c.(13636-13638)ACG>ATG p.T4546M PCLO_uc003uhv.2_Missense_Mutation_p.T4546M|PCLO_uc003uht.1_Translation_Start_Site|PCLO_uc003uhu.1_Translation_Start_Site NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AAGCTTCCCCGTCTGTTCCGC 0.358 CSMD1 64478 broad.mit.edu 37 8 4277522 4277522 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr8:4277522G>A uc011kwk.1 - 3 758 c.368C>T c.(367-369)ACG>ATG p.T123M NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 123 Extracellular (Potential).|CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GAAGTCTGTCGTGAACCACAG 0.403 ADAM7 8756 broad.mit.edu 37 8 24357714 24357714 + Nonsense_Mutation SNP C A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr8:24357714C>A uc003xeb.2 + 18 2060 c.1947C>A c.(1945-1947)TGC>TGA p.C649* ADAM7_uc003xec.2_Nonsense_Mutation_p.C421* NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 649 Extracellular (Potential).|Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) gaCTCCAGTGCCACTGTGAGG 0.328 LOC728024 728024 broad.mit.edu 37 8 37605006 37605006 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr8:37605006C>T uc010lvx.1 - 1 516 c.370G>A c.(370-372)GAA>AAA p.E124K ERLIN2_uc003xke.3_Intron NR_003671 SubName: Full=cDNA FLJ38978 fis, clone NT2RI2004209; SubName: Full=Chromosome X open reading frame 56, isoform CRA_b; SubName: Full=Putative uncharacterized protein CXorf56; 0 TCAGCAACTTCCCTAGCCTCA 0.483 XKR9 389668 broad.mit.edu 37 8 71646034 71646034 + Missense_Mutation SNP C T T rs140711820 TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr8:71646034C>T uc003xyq.2 + 5 1031 c.497C>T c.(496-498)GCG>GTG p.A166V XKR9_uc010lze.2_Missense_Mutation_p.A166V|XKR9_uc010lzd.2_Missense_Mutation_p.A34V NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related 166 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TTTGTAGATGCGGCCATCATG 0.274 GLIS3 169792 broad.mit.edu 37 9 4117963 4117963 + Silent SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr9:4117963G>A uc003zhw.1 - 3 1244 c.1050C>T c.(1048-1050)ATC>ATT p.I350I GLIS3_uc003zhx.1_Silent_p.I505I|GLIS3_uc003zic.1_Silent_p.I505I|GLIS3_uc003zie.1_Silent_p.I505I|GLIS3_uc010mhh.1_Silent_p.I380I|GLIS3_uc003zid.1_Silent_p.I283I|GLIS3_uc010mhi.1_Silent_p.I312I|GLIS3_uc003zif.1_Silent_p.I283I|GLIS3_uc003zig.1_Silent_p.I349I|GLIS3_uc003zih.1_Silent_p.I283I|GLIS3_uc003zhy.1_Silent_p.I283I|GLIS3_uc003zhz.1_Silent_p.I283I|GLIS3_uc003zib.1_Silent_p.I349I|GLIS3_uc010mhg.1_Silent_p.I283I NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 350 C2H2-type 1. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CGCTGCAGTCGATCCAGCGGC 0.667 TESK1 7016 broad.mit.edu 37 9 35609198 35609198 + Missense_Mutation SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr9:35609198G>A uc003zxa.2 + 10 1676 c.1340G>A c.(1339-1341)CGT>CAT p.R447H TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.R287H NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 447 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTCCCCCGCCGTATGGAGACA 0.687 FBP2 8789 broad.mit.edu 37 9 97333806 97333806 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr9:97333806C>T uc004auv.2 - 4 572 c.505G>A c.(505-507)GGT>AGT p.G169S uc004auu.2_Intron NM_003837 NP_003828 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 169 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) GTTGCACTACCGTACAGCGCA 0.552 USP20 10868 broad.mit.edu 37 9 132638480 132638480 + Missense_Mutation SNP C T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chr9:132638480C>T uc004bys.2 + 22 2583 c.2372C>T c.(2371-2373)GCC>GTC p.A791V USP20_uc004byr.2_Missense_Mutation_p.A791V|USP20_uc004byt.1_Missense_Mutation_p.A791V NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 791 DUSP 2. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) GAGGCACTGGCCAAGCGCAGG 0.677 DMD 1756 broad.mit.edu 37 X 31165414 31165414 + Missense_Mutation SNP C G G TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chrX:31165414C>G uc004dda.1 - 75 11019 c.10775G>C c.(10774-10776)AGG>ACG p.R3592T DMD_uc004dcq.1_Missense_Mutation_p.R863T|DMD_uc004dcr.1_Missense_Mutation_p.R1012T|DMD_uc004dcs.1_Missense_Mutation_p.R1022T|DMD_uc004dct.1_Missense_Mutation_p.R1132T|DMD_uc004dcu.1_Missense_Mutation_p.R1132T|DMD_uc004dcv.1_Missense_Mutation_p.R1119T|DMD_uc004dcw.2_Missense_Mutation_p.R2248T|DMD_uc004dcx.2_Missense_Mutation_p.R2251T|DMD_uc004dcz.2_Missense_Mutation_p.R3469T|DMD_uc004dcy.1_Missense_Mutation_p.R3588T|DMD_uc004ddb.1_Missense_Mutation_p.R3584T|DMD_uc004dcm.1_Missense_Mutation_p.R524T|DMD_uc004dcn.1_Missense_Mutation_p.R511T|DMD_uc004dco.1_Missense_Mutation_p.R524T|DMD_uc004dcp.1_Missense_Mutation_p.R511T|DMD_uc011mkb.1_Missense_Mutation_p.R414T NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3592 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTGCCTTAGCCTGTGTAACTG 0.458 MAGEB16 139604 broad.mit.edu 37 X 35820765 35820765 + Missense_Mutation SNP T A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chrX:35820765T>A uc010ngt.1 + 2 731 c.452T>A c.(451-453)TTC>TAC p.F151Y NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 151 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 GAGAGCCACTTCTCTGAGATC 0.448 TGIF2LX 90316 broad.mit.edu 37 X 89177576 89177576 + Silent SNP G A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chrX:89177576G>A uc004efe.2 + 2 541 c.492G>A c.(490-492)AAG>AAA p.K164K NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 164 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CCTTGCCAAAGGGCCAGATGT 0.592 DIAPH2 1730 broad.mit.edu 37 X 96212894 96212894 + Missense_Mutation SNP G T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chrX:96212894G>T uc004efu.3 + 16 2078 c.1682G>T c.(1681-1683)GGG>GTG p.G561V DIAPH2_uc004eft.3_Missense_Mutation_p.G561V NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 561 FH1. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 CCAGGTGTAGGGCCGCCTCCA 0.537 MAGEC2 51438 broad.mit.edu 37 X 141291061 141291061 + Missense_Mutation SNP A T T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chrX:141291061A>T uc004fbu.1 - 3 1061 c.713T>A c.(712-714)TTC>TAC p.F238Y NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 238 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) GCCCTTTATGAAGATCACACT 0.512 HNSCC(46;0.14) MAGEA12 4111 broad.mit.edu 37 X 151900207 151900207 + Missense_Mutation SNP C A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chrX:151900207C>A uc010ntp.2 - 3 948 c.594G>T c.(592-594)AAG>AAT p.K198N MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.K198N NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 198 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GGAGGCCTGTCTTGGGCACGA 0.577 SPRY3 10251 broad.mit.edu 37 X 155003952 155003952 + Missense_Mutation SNP C A A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 2580567a-8f51-4cb7-9525-bba987c55e36 75bb80be-e071-475d-829e-b6a635281011 g.chrX:155003952C>A uc004fnq.1 + 2 873 c.419C>A c.(418-420)CCT>CAT p.P140H SPRY3_uc010nvl.1_Intron NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 140 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCAGGGCACCCTAGTGAGCAC 0.612