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 DMBX1 127343 broad.mit.edu 37 1 46972778 46972778 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:46972778G>A uc001cpx.2 + 1 111 c.96G>A c.(94-96)CAG>CAA p.Q32Q DMBX1_uc001cpw.2_Silent_p.Q32Q NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 32 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AGCAGGCCCAGCATGCCCCCG 0.642 ZCCHC11 23318 broad.mit.edu 37 1 52981638 52981638 + Missense_Mutation SNP C G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:52981638C>G uc001ctx.2 - 3 1041 c.807G>C c.(805-807)TTG>TTC p.L269F ZCCHC11_uc001cty.2_Missense_Mutation_p.L269F|ZCCHC11_uc001ctz.2_Missense_Mutation_p.L269F|ZCCHC11_uc009vze.1_Missense_Mutation_p.L269F|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L28F|ZCCHC11_uc001cub.2_Missense_Mutation_p.L269F|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.L269F NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 269 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 GCTCAGGTGTCAATGCAGATT 0.343 LRRC7 57554 broad.mit.edu 37 1 70477511 70477511 + Missense_Mutation SNP T C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:70477511T>C uc001dep.2 + 10 952 c.922T>C c.(922-924)TGT>CGT p.C308R LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 308 LRR 13. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TGACTGTAGCTGTAATGAACT 0.328 FAM46C 54855 broad.mit.edu 37 1 118166577 118166577 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:118166577G>A uc001ehe.2 + 2 1286 c.1087G>A c.(1087-1089)GTC>ATC p.V363I NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN hypothetical protein LOC54855 363 0 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) GGCCCCTTACGTCAGTGATGG 0.557 Multiple Myeloma(3;1.13e-06) PDE4DIP 9659 broad.mit.edu 37 1 144863324 144863324 + Frame_Shift_Del DEL G - - TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:144863324delG uc001elw.3 - 37 6370 c.6079delC c.(6079-6081)CTGfs p.L2027fs NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Frame_Shift_Del_p.L1921fs|PDE4DIP_uc001elv.3_Frame_Shift_Del_p.L1034fs|PDE4DIP_uc001ema.2_3'UTR NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2027 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATACCTTTCAGCCCCTTCTTG 0.488 T PDGFRB MPD RGS4 5999 broad.mit.edu 37 1 163044147 163044147 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:163044147C>T uc009wuy.2 + 5 926 c.415C>T c.(415-417)CGG>TGG p.R139W RGS4_uc001gcl.3_Missense_Mutation_p.R236W|RGS4_uc009wuz.2_Missense_Mutation_p.P83L|RGS4_uc009wva.2_Missense_Mutation_p.R121W NM_005613 NP_005604 P49798 RGS4_HUMAN regulator of G-protein signaling 4 isoform 2 139 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(2)|central_nervous_system(1) 3 AGAGACAAGCCGGAACATGCT 0.507 C1orf112 55732 broad.mit.edu 37 1 169811564 169811564 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:169811564G>A uc001ggp.2 + 19 2042 c.1732G>A c.(1732-1734)GTA>ATA p.V578I C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.V578I|C1orf112_uc009wvt.2_Missense_Mutation_p.V255I|C1orf112_uc009wvu.1_Missense_Mutation_p.V454I|C1orf112_uc001ggr.2_Missense_Mutation_p.V443I|C1orf112_uc010plv.1_Missense_Mutation_p.V520I NM_018186 NP_060656 Q9NSG2 CA112_HUMAN hypothetical protein LOC55732 578 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCAGAACACAGTACTGTCTGC 0.403 CEP350 9857 broad.mit.edu 37 1 180063490 180063490 + Silent SNP A G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:180063490A>G uc001gnt.2 + 34 8633 c.8250A>G c.(8248-8250)AAA>AAG p.K2750K CEP350_uc009wxl.2_Silent_p.K2749K|CEP350_uc001gnv.2_Silent_p.K885K|CEP350_uc001gnw.1_Silent_p.K507K|CEP350_uc001gnx.1_Silent_p.K507K NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2750 Potential. centrosome|nucleus|spindle ovary(4) 4 AACTGGAAAAAATCAGCTTAC 0.358 CACNA1E 777 broad.mit.edu 37 1 181479699 181479699 + Frame_Shift_Del DEL C - - TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:181479699delC uc001gow.2 + 2 518 c.353delC c.(352-354)ACCfs p.T118fs CACNA1E_uc009wxr.2_Frame_Shift_Del_p.T25fs|CACNA1E_uc009wxs.2_Frame_Shift_Del_p.T25fs NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 118 I.|Extracellular (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GATGACAAGACCCCCATGTCC 0.527 TPR 7175 broad.mit.edu 37 1 186329081 186329081 + Silent SNP T C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:186329081T>C uc001grv.2 - 12 1536 c.1239A>G c.(1237-1239)AAA>AAG p.K413K TPR_uc010pop.1_Silent_p.K489K NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 413 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TGTTCTCTAGTTTCTCCAAAA 0.363 T NTRK1 papillary thyroid PTPRC 5788 broad.mit.edu 37 1 198608459 198608459 + Missense_Mutation SNP G T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:198608459G>T uc001gur.1 + 2 235 c.55G>T c.(55-57)GTA>TTA p.V19L PTPRC_uc001gus.1_Missense_Mutation_p.V19L|PTPRC_uc001gut.1_Missense_Mutation_p.V19L|PTPRC_uc001guq.2_Missense_Mutation_p.V19L|PTPRC_uc009wze.1_Missense_Mutation_p.V21L|PTPRC_uc009wzf.1_Missense_Mutation_p.V21L|PTPRC_uc010ppg.1_Missense_Mutation_p.V21L|PTPRC_uc001guu.1_Missense_Mutation_p.V21L|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 19 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GGACACAGAAGTATTTGTGAC 0.338 RAB3GAP2 25782 broad.mit.edu 37 1 220325030 220325030 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:220325030G>A uc010puk.1 - 34 4108 c.3944C>T c.(3943-3945)GCG>GTG p.A1315V RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A895V|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.A259V NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 1315 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) GTGGAGAAGCGCATGAGCCAG 0.507 ZP4 57829 broad.mit.edu 37 1 238053168 238053168 + Silent SNP T A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr1:238053168T>A uc001hym.2 - 3 399 c.399A>T c.(397-399)CTA>CTT p.L133L LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 133 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGCCTTTACCTAGAAGATCCA 0.547 PTEN 5728 broad.mit.edu 37 10 89720852 89720852 + Nonsense_Mutation SNP C T T rs121909231 TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr10:89720852C>T uc001kfb.2 + 9 2034 c.1003C>T c.(1003-1005)CGA>TGA p.R335* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 335 C2 tensin-type. KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected. 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.R335*(21)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.W274_F341del(1)|p.R335R(1)|p.D326_K342del(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) CAAAGCCAACCGATACTTTTC 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) COL17A1 1308 broad.mit.edu 37 10 105813706 105813706 + Silent SNP T C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr10:105813706T>C uc001kxr.2 - 22 1975 c.1806A>G c.(1804-1806)CAA>CAG p.Q602Q COL17A1_uc010qqv.1_Silent_p.Q586Q NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 602 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CCTTTGGTCCTTGTGGACCTG 0.408 WDR11 55717 broad.mit.edu 37 10 122645345 122645345 + Missense_Mutation SNP A G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr10:122645345A>G uc010qtf.1 + 15 2106 c.1868A>G c.(1867-1869)AAC>AGC p.N623S WDR11_uc010qte.1_Missense_Mutation_p.N225S|WDR11_uc001lfd.1_Missense_Mutation_p.N141S|WDR11_uc009xzn.2_5'Flank NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 623 integral to membrane 0 CCATCTCACAACTTGAAGAGC 0.488 OR51A2 401667 broad.mit.edu 37 11 4976146 4976146 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr11:4976146G>A uc010qyt.1 - 1 798 c.798C>T c.(796-798)GCC>GCT p.A266A NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGACATGCCCGGCAAAGCGGT 0.453 TRIM5 85363 broad.mit.edu 37 11 5699638 5699638 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr11:5699638G>A uc001mbm.1 - 4 797 c.540C>T c.(538-540)AAC>AAT p.N180N TRIM5_uc001mbq.1_Silent_p.N180N|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Silent_p.N180N|TRIM5_uc001mbo.2_Silent_p.N180N|TRIM5_uc001mbp.2_Silent_p.N180N NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 180 Potential. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) CTGCCAAGACGTTGGTTTTGT 0.473 NAV2 89797 broad.mit.edu 37 11 20065530 20065530 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr11:20065530G>A uc010rdm.1 + 14 3341 c.2980G>A c.(2980-2982)GAT>AAT p.D994N NAV2_uc001mpp.2_Missense_Mutation_p.D907N|NAV2_uc001mpr.3_Missense_Mutation_p.D971N|NAV2_uc001mpt.2_Missense_Mutation_p.D57N|NAV2_uc009yhx.2_Missense_Mutation_p.D57N|NAV2_uc009yhy.1_5'UTR NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 994 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TCCACAGACTGATGCTGAGAA 0.507 OR10AG1 282770 broad.mit.edu 37 11 55735214 55735214 + Missense_Mutation SNP G T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr11:55735214G>T uc010rit.1 - 1 726 c.726C>A c.(724-726)TTC>TTA p.F242L NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) CTGCTCCAAAGAATAAGATTA 0.388 OR5B2 390190 broad.mit.edu 37 11 58189829 58189829 + Silent SNP C A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr11:58189829C>A uc010rkg.1 - 1 906 c.906G>T c.(904-906)GTG>GTT p.V302V NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCCTTCTCAACACTTTCTTGA 0.383 WDR74 54663 broad.mit.edu 37 11 62602979 62602979 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr11:62602979C>T uc001nvm.1 - 7 710 c.542G>A c.(541-543)CGG>CAG p.R181Q WDR74_uc001nvk.1_Missense_Mutation_p.R124Q|WDR74_uc001nvl.1_Missense_Mutation_p.R181Q|WDR74_uc001nvn.1_Missense_Mutation_p.R233Q|WDR74_uc009yoi.1_Missense_Mutation_p.R181Q|WDR74_uc010rmk.1_3'UTR NM_018093 NP_060563 Q6RFH5 WDR74_HUMAN WD repeat domain 74 181 WD 4. nucleolus ovary(1) 1 GATGGGAACCCGCAAGTCCAG 0.607 HTR3B 9177 broad.mit.edu 37 11 113813844 113813844 + Silent SNP G T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr11:113813844G>T uc001pok.2 + 7 904 c.837G>T c.(835-837)GTG>GTT p.V279V HTR3B_uc001pol.2_Silent_p.V268V NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 279 Helical; Name=2; (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) GTGTGCTGGTGGGCTACACCG 0.572 VWF 7450 broad.mit.edu 37 12 6058287 6058287 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:6058287G>A uc001qnn.1 - 52 8586 c.8336C>T c.(8335-8337)ACG>ATG p.T2779M ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2779 CTCK. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CATGGGCTCCGTCCGTGTCGG 0.562 GYS2 2998 broad.mit.edu 37 12 21733300 21733300 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:21733300G>A uc001rfb.2 - 2 534 c.279C>T c.(277-279)GAC>GAT p.D93D NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 93 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 TATTCATTGCGTCCACTGCTC 0.403 MBD6 114785 broad.mit.edu 37 12 57922312 57922312 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:57922312C>T uc001soj.1 + 10 3013 c.2789C>T c.(2788-2790)CCC>CTC p.P930L MBD6_uc001sok.1_Missense_Mutation_p.P798L|MBD6_uc001sol.1_RNA NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 930 chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 AAGGATCCACCCCCTCCCGGG 0.577 ZFC3H1 196441 broad.mit.edu 37 12 72025622 72025622 + Missense_Mutation SNP T C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:72025622T>C uc001swo.2 - 16 3765 c.3406A>G c.(3406-3408)ATG>GTG p.M1136V NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 1136 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 TTCACTTCCATTGTTTTACTT 0.358 SSH1 54434 broad.mit.edu 37 12 109212060 109212060 + Missense_Mutation SNP T A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:109212060T>A uc001tnm.2 - 4 331 c.244A>T c.(244-246)ATC>TTC p.I82F SSH1_uc010sxg.1_Missense_Mutation_p.I93F|SSH1_uc001tnn.3_Missense_Mutation_p.I82F|SSH1_uc001tno.1_5'Flank NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 82 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 AGAAGGTTGATCATCACCTGA 0.338 ACACB 32 broad.mit.edu 37 12 109639415 109639415 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:109639415G>A uc001tob.2 + 19 2941 c.2822G>A c.(2821-2823)CGG>CAG p.R941Q ACACB_uc001toc.2_Missense_Mutation_p.R941Q NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 941 Biotinyl-binding. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GAAAGAGGCCGGGTGAAGTAC 0.542 CUX2 23316 broad.mit.edu 37 12 111772383 111772383 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:111772383C>T uc001tsa.1 + 19 3218 c.3065C>T c.(3064-3066)TCG>TTG p.S1022L NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1022 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TCCAGCTCCTCGTTGAGCGGG 0.647 PITPNM2 57605 broad.mit.edu 37 12 123481392 123481393 + Frame_Shift_Ins INS - C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:123481392_123481393insC uc001uej.1 - 11 1676_1677 c.1537_1538insG c.(1537-1539)GCCfs p.A513fs PITPNM2_uc001uek.1_Frame_Shift_Ins_p.A513fs NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 513 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CAGGGGGAGGGCAGCCAGGGGA 0.639 DNAH10 196385 broad.mit.edu 37 12 124333280 124333280 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:124333280G>A uc001uft.3 + 33 5624 c.5599G>A c.(5599-5601)GTG>ATG p.V1867M NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1867 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTCCTAGGCCGTGGGGAAGAT 0.443 RIMBP2 23504 broad.mit.edu 37 12 130935764 130935764 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:130935764G>A uc001uil.2 - 5 593 c.429C>T c.(427-429)AGC>AGT p.S143S RIMBP2_uc001uim.2_Silent_p.S51S NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 143 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGCATCTTGCGCTACCGGATC 0.637 GPR133 283383 broad.mit.edu 37 12 131620612 131620612 + Silent SNP G C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:131620612G>C uc001uit.3 + 22 2857 c.2298G>C c.(2296-2298)CTG>CTC p.L766L GPR133_uc010tbm.1_Silent_p.L798L|GPR133_uc009zyo.2_Silent_p.L48L|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 766 Helical; Name=6; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCGTGCTGCTGCCCATCCTGG 0.592 ZNF140 7699 broad.mit.edu 37 12 133682985 133682985 + Silent SNP A G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr12:133682985A>G uc001ulo.2 + 5 1792 c.1122A>G c.(1120-1122)CAA>CAG p.Q374Q ZNF140_uc001ulp.2_Silent_p.Q271Q|ZNF140_uc010tbu.1_Silent_p.Q271Q NM_003440 NP_003431 P52738 ZN140_HUMAN zinc finger protein 140 374 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CCCTTATTCAACATACGAAGA 0.408 RFX7 64864 broad.mit.edu 37 15 56386880 56386881 + Frame_Shift_Ins INS - G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr15:56386880_56386881insG uc010bfn.2 - 9 3045_3046 c.3045_3046insC c.(3043-3048)CCCAGCfs p.P1015fs RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Frame_Shift_Ins_p.P829fs NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 918_919 regulation of transcription, DNA-dependent nucleus DNA binding 0 TCAACAGGGCTGGGGGGGACAC 0.500 LBXCOR1 390598 broad.mit.edu 37 15 68118859 68118859 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr15:68118859C>T uc002aqy.1 + 2 666 c.666C>T c.(664-666)GAC>GAT p.D222D NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 231 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 GAACACCCGACGCCAAGTACA 0.572 C15orf32 145858 broad.mit.edu 37 15 93015653 93015653 + Missense_Mutation SNP T C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr15:93015653T>C uc002brc.1 + 1 747 c.275T>C c.(274-276)GTG>GCG p.V92A C15orf32_uc010bod.1_RNA NM_153040 NP_694585 Q32M92 CO032_HUMAN hypothetical protein LOC145858 92 ovary(1) 1 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) agctcacgagtggATGGTTTG 0.279 UNKL 64718 broad.mit.edu 37 16 1449391 1449391 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr16:1449391G>A uc010bro.1 - 5 726 c.718C>T c.(718-720)CGG>TGG p.R240W UNKL_uc002clq.2_Missense_Mutation_p.R240W NM_001037125 NP_001032202 Q9H9P5 UNKL_HUMAN unkempt homolog (Drosophila)-like isoform 2 240 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding 0 Hepatocellular(780;0.0893) TGGAACCGCCGGGGGTTGCGC 0.701 FBXO31 79791 broad.mit.edu 37 16 87368933 87368933 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr16:87368933G>A uc002fjw.2 - 7 1017 c.973C>T c.(973-975)CGT>TGT p.R325C FBXO31_uc010vot.1_Missense_Mutation_p.R153C|FBXO31_uc002fjv.2_Missense_Mutation_p.R217C NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 325 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) CCCCTGGCACGCCGGCCGTGG 0.662 OR1G1 8390 broad.mit.edu 37 17 3029921 3029921 + Missense_Mutation SNP T C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr17:3029921T>C uc002fvc.1 - 1 925 c.925A>G c.(925-927)AAA>GAA p.K309E NM_003555 NP_003546 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAATGAATTTTCCGAACCCAG 0.428 SLC6A4 6532 broad.mit.edu 37 17 28545202 28545202 + Missense_Mutation SNP T G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr17:28545202T>G uc002hey.3 - 5 1176 c.632A>C c.(631-633)AAT>ACT p.N211T NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 211 Extracellular (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GGAGAAGTAATTGGTGCAGTT 0.542 ZNHIT3 9326 broad.mit.edu 37 17 34851065 34851065 + Splice_Site SNP A G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr17:34851065A>G uc002hms.1 + 5 358 c.287_splice c.e5-2 p.G96_splice ZNHIT3_uc002hmt.1_Splice_Site|ZNHIT3_uc010cut.1_Intron NM_004773 NP_004764 Q15649 ZNHI3_HUMAN thyroid hormone receptor interactor 3 regulation of transcription, DNA-dependent intracellular metal ion binding|thyroid hormone receptor binding 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0188) GTTAATTTTTAGGGGAATCTG 0.403 TNS4 84951 broad.mit.edu 37 17 38652473 38652473 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr17:38652473C>T uc010cxb.2 - 2 369 c.205G>A c.(205-207)GCC>ACC p.A69T NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 69 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) ACCTGTGGGGCTTGCTGGAGT 0.652 MRC2 9902 broad.mit.edu 37 17 60758249 60758249 + Silent SNP G A A rs150592174 TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr17:60758249G>A uc002jad.2 + 17 2964 c.2562G>A c.(2560-2562)ACG>ACA p.T854T MRC2_uc002jae.2_Translation_Start_Site|MRC2_uc002jaf.2_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 854 Extracellular (Potential).|C-type lectin 5. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 GCATCTGCACGTGGTTCCAGG 0.637 ZNF521 25925 broad.mit.edu 37 18 22806841 22806841 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr18:22806841G>A uc002kvk.2 - 4 1288 c.1041C>T c.(1039-1041)GTC>GTT p.V347V ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.V347V|ZNF521_uc002kvl.2_Silent_p.V127V NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 347 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGCCCACCGTGACCAGGGAAG 0.542 T PAX5 ALL TMPRSS9 360200 broad.mit.edu 37 19 2421886 2421886 + Missense_Mutation SNP C G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr19:2421886C>G uc010xgx.1 + 13 2087 c.2087C>G c.(2086-2088)GCC>GGC p.A696G NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 696 Extracellular (Potential).|Peptidase S1 2. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 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) TGCGAGGAGGCCCCTGGCGTG 0.617 HOOK2 29911 broad.mit.edu 37 19 12876795 12876795 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr19:12876795G>A uc002muy.2 - 16 1716 c.1545C>T c.(1543-1545)GCC>GCT p.A515A HOOK2_uc010xmq.1_5'UTR|HOOK2_uc002muz.2_Silent_p.A515A NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 515 Sufficient for interaction with microtubules.|Potential. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 CCTCCACCTGGGCCCGCAGCT 0.672 OREG0025273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RYR1 6261 broad.mit.edu 37 19 38954119 38954119 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr19:38954119C>T uc002oit.2 + 21 2764 c.2634C>T c.(2632-2634)CAC>CAT p.H878H RYR1_uc002oiu.2_Silent_p.H878H NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 878 1.|Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGAACATCCACGAGCTCTGGG 0.662 PRKD2 25865 broad.mit.edu 37 19 47181674 47181674 + Missense_Mutation SNP A C C rs55933311 TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr19:47181674A>C uc002pfh.2 - 17 2659 c.2317T>G c.(2317-2319)TGG>GGG p.W773G PRKD2_uc002pfd.2_Missense_Mutation_p.W147G|PRKD2_uc010eks.2_Missense_Mutation_p.W176G|PRKD2_uc010ekt.2_Missense_Mutation_p.W40G|PRKD2_uc002pfe.2_Missense_Mutation_p.W293G|PRKD2_uc002pff.2_Missense_Mutation_p.W293G|PRKD2_uc002pfg.2_Missense_Mutation_p.W616G|PRKD2_uc002pfi.2_Missense_Mutation_p.W773G|PRKD2_uc002pfj.2_Missense_Mutation_p.W773G|PRKD2_uc010xye.1_Missense_Mutation_p.W773G|PRKD2_uc002pfk.2_Missense_Mutation_p.W616G NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 773 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) ATGTGGCTCCAGGGGCTGGCC 0.642 SLC6A16 28968 broad.mit.edu 37 19 49812323 49812323 + Missense_Mutation SNP A T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr19:49812323A>T uc002pmz.2 - 7 1273 c.1039T>A c.(1039-1041)TTG>ATG p.L347M SLC6A16_uc002pna.2_Missense_Mutation_p.L347M|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 347 Helical; Name=6; (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GTGTTAGACAAAACTTGACCC 0.478 SIGLEC9 27180 broad.mit.edu 37 19 51630344 51630344 + Missense_Mutation SNP G A A rs149764192 TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr19:51630344G>A uc002pvu.2 + 4 873 c.806G>A c.(805-807)CGC>CAC p.R269H SIGLEC9_uc010yct.1_Missense_Mutation_p.R269H NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 269 Extracellular (Potential).|Ig-like C2-type 2. R -> H (in Ref. 2; AAF87223). cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CAGTCTCTGCGCCTGGTCTGT 0.483 ZNF581 51545 broad.mit.edu 37 19 56155985 56155985 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr19:56155985C>T uc002qln.2 + 2 764 c.48C>T c.(46-48)TCC>TCT p.S16S ZNF581_uc002qlq.2_Silent_p.S16S|CCDC106_uc002qlr.2_5'Flank NM_016535 NP_057619 Q9P0T4 ZN581_HUMAN zinc finger protein 581 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CATTTTCCTCCGTTGAGACCA 0.617 LOXL3 84695 broad.mit.edu 37 2 74761513 74761513 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr2:74761513G>A uc002smp.1 - 11 1941 c.1869C>T c.(1867-1869)ACC>ACT p.T623T LOXL3_uc002smo.1_Silent_p.T262T|LOXL3_uc010ffm.1_Silent_p.T567T|LOXL3_uc002smq.1_Silent_p.T478T|LOXL3_uc010ffn.1_Silent_p.T478T NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 623 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 TGCCATTTGGGGTGAGGATAT 0.527 CTNNA2 1496 broad.mit.edu 37 2 80801323 80801323 + Missense_Mutation SNP A T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr2:80801323A>T uc010ysh.1 + 12 1782 c.1777A>T c.(1777-1779)ATT>TTT p.I593F CTNNA2_uc010yse.1_Missense_Mutation_p.I593F|CTNNA2_uc010ysf.1_Missense_Mutation_p.I593F|CTNNA2_uc010ysg.1_Missense_Mutation_p.I593F|CTNNA2_uc010ysi.1_Missense_Mutation_p.I225F NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 593 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AGAGGTTGCCATTGAAGCCCT 0.483 POTEF 728378 broad.mit.edu 37 2 130877801 130877801 + Missense_Mutation SNP G T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr2:130877801G>T uc010fmh.2 - 3 688 c.288C>A c.(286-288)AAC>AAA p.N96K NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 96 cell cortex ATP binding skin(3)|ovary(2) 5 TGCCCATCTTGTTCCTGAGTG 0.612 POTEE 445582 broad.mit.edu 37 2 131976263 131976263 + Missense_Mutation SNP C A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr2:131976263C>A uc002tsn.2 + 1 340 c.288C>A c.(286-288)AAC>AAA p.N96K PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 96 ATP binding 0 CACTCAGGAACAAGATGGGGA 0.617 RAB3GAP1 22930 broad.mit.edu 37 2 135893152 135893155 + Frame_Shift_Del DEL GAAA - - TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr2:135893152_135893155delGAAA uc002tuj.2 + 17 1598_1601 c.1573_1576delGAAA c.(1573-1578)GAAAGAfs p.E525fs RAB3GAP1_uc010fnf.2_Frame_Shift_Del_p.E525fs|RAB3GAP1_uc010fng.2_Frame_Shift_Del_p.E350fs|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 525_526 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) TTGTTGTATTGAAAGAAAGAAGGC 0.333 TTN 7273 broad.mit.edu 37 2 179500424 179500424 + Frame_Shift_Del DEL A - - TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr2:179500424delA uc010zfg.1 - 176 34147 c.33923delT c.(33922-33924)CTGfs p.L11308fs TTN_uc010zfh.1_Frame_Shift_Del_p.L5003fs|TTN_uc010zfi.1_Frame_Shift_Del_p.L4936fs|TTN_uc010zfj.1_Frame_Shift_Del_p.L4811fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12235 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) AGGTTTCACCAGCCAATCTCT 0.353 KLF7 8609 broad.mit.edu 37 2 207988812 207988812 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr2:207988812G>A uc002vbz.1 - 2 741 c.419C>T c.(418-420)TCG>TTG p.S140L KLF7_uc002vca.1_Missense_Mutation_p.S140L|KLF7_uc010zix.1_Missense_Mutation_p.S112L NM_003709 NP_003700 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 140 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding central_nervous_system(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) CTCAGGGGACGATGGGGGCGT 0.597 DOCK10 55619 broad.mit.edu 37 2 225666723 225666723 + Nonsense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr2:225666723G>A uc010fwz.1 - 40 4542 c.4303C>T c.(4303-4305)CAG>TAG p.Q1435* DOCK10_uc002vob.2_Nonsense_Mutation_p.Q1429*|DOCK10_uc002voa.2_Nonsense_Mutation_p.Q91*|DOCK10_uc002voc.2_Nonsense_Mutation_p.Q289* NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1435 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GATCTGTGCTGCTTATGGCCT 0.378 CAPN10 11132 broad.mit.edu 37 2 241556394 241556394 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr2:241556394C>T uc002vzq.1 + 4 576 c.399C>T c.(397-399)GCC>GCT p.A133A GPR35_uc010fzh.1_Intron|GPR35_uc010fzi.1_Intron NM_023089 NP_075577 Q9HC96 CAN10_HUMAN calpain 10 isoform g Error:Variant_position_missing_in_Q9HC96_after_alignment actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) taccaacagccacctggggga 0.000 C20orf194 25943 broad.mit.edu 37 20 3274853 3274853 + Missense_Mutation SNP G A A rs145634255 by1000genomes TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr20:3274853G>A uc002wii.2 - 25 2221 c.2170C>T c.(2170-2172)CGG>TGG p.R724W C20orf194_uc002wij.3_Missense_Mutation_p.R463W|C20orf194_uc002wik.2_Missense_Mutation_p.R398W NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 724 0 AGATGGGTCCGCATCACAGGC 0.468 SEC23B 10483 broad.mit.edu 37 20 18534935 18534935 + Missense_Mutation SNP C A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr20:18534935C>A uc002wqz.1 + 18 2492 c.2049C>A c.(2047-2049)TTC>TTA p.F683L SEC23B_uc002wra.1_Missense_Mutation_p.F683L|SEC23B_uc002wrb.1_Missense_Mutation_p.F683L|SEC23B_uc010zsb.1_Missense_Mutation_p.F665L|SEC23B_uc002wrc.1_Missense_Mutation_p.F683L NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 683 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 ATGAAAACTTCAAGCACCTTC 0.493 BPI 671 broad.mit.edu 37 20 36932754 36932754 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr20:36932754C>T uc002xib.2 + 1 203 c.141C>T c.(139-141)TAC>TAT p.Y47Y NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 47 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) GCCTGGACTACGGTAACTGGA 0.458 SLC9A8 23315 broad.mit.edu 37 20 48503378 48503378 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr20:48503378C>T uc002xuv.1 + 15 1791 c.1581C>T c.(1579-1581)TTC>TTT p.F527F SLC9A8_uc010zym.1_Silent_p.F227F|SLC9A8_uc010gid.2_Silent_p.F151F NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 527 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TTAAGGGCTTCGTGTGGCTGG 0.627 BRWD1 54014 broad.mit.edu 37 21 40571510 40571510 + Nonsense_Mutation SNP G T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr21:40571510G>T uc002yxk.1 - 40 4971 c.4832C>A c.(4831-4833)TCA>TAA p.S1611* BRWD1_uc010goc.1_Nonsense_Mutation_p.S254*|BRWD1_uc002yxl.2_Nonsense_Mutation_p.S1611* NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1611 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AGTCTCCAATGAATTGTTATC 0.378 OREG0003861 type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay CABIN1 23523 broad.mit.edu 37 22 24466765 24466765 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr22:24466765G>A uc002zzi.1 + 17 2374 c.2247G>A c.(2245-2247)CGG>CGA p.R749R CABIN1_uc002zzj.1_Silent_p.R699R|CABIN1_uc002zzl.1_Silent_p.R749R NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 749 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CCTTGCTCCGGCTGAAGGACT 0.562 RANGAP1 5905 broad.mit.edu 37 22 41654011 41654011 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr22:41654011G>A uc003azs.2 - 6 2185 c.715C>T c.(715-717)CGG>TGG p.R239W RANGAP1_uc003azt.2_Missense_Mutation_p.R239W|RANGAP1_uc003azu.2_Missense_Mutation_p.R239W|RANGAP1_uc011aoz.1_Missense_Mutation_p.R184W NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 239 LRR 4. mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 TTGATGACCCGCAGCAGGGGG 0.627 IL5RA 3568 broad.mit.edu 37 3 3139898 3139898 + Silent SNP T C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr3:3139898T>C uc011ask.1 - 7 1088 c.444A>G c.(442-444)TCA>TCG p.S148S IL5RA_uc010hbq.2_Silent_p.S148S|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Silent_p.S148S|IL5RA_uc011asl.1_Silent_p.S148S|IL5RA_uc011asm.1_Silent_p.S148S|IL5RA_uc010hbt.2_Silent_p.S148S|IL5RA_uc011asn.1_Silent_p.S148S|IL5RA_uc010hbu.2_Silent_p.S148S NM_000564 NP_000555 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha isoform 1 148 Extracellular (Potential). cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity ovary(1) 1 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) AAACTTGGTATGACCTTAAAC 0.413 GADL1 339896 broad.mit.edu 37 3 30885739 30885739 + Missense_Mutation SNP T A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr3:30885739T>A uc003cep.2 - 8 796 c.749A>T c.(748-750)GAG>GTG p.E250V GADL1_uc003ceq.1_Missense_Mutation_p.E250V NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 250 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) CTCCAGTTCCTCAGGTATCAT 0.438 PLXNB1 5364 broad.mit.edu 37 3 48462792 48462792 + Missense_Mutation SNP A C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr3:48462792A>C uc003csw.2 - 8 1925 c.1655T>G c.(1654-1656)GTT>GGT p.V552G PLXNB1_uc003csu.2_Missense_Mutation_p.V552G|PLXNB1_uc003csx.2_Missense_Mutation_p.V552G|PLXNB1_uc010hjx.1_RNA NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 552 Extracellular (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGATAGGAAAACCTGCCAAGA 0.577 FLNB 2317 broad.mit.edu 37 3 58135696 58135696 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr3:58135696G>A uc003djj.2 + 37 6376 c.6211G>A c.(6211-6213)GTC>ATC p.V2071I FLNB_uc010hne.2_Missense_Mutation_p.V2102I|FLNB_uc003djk.2_Missense_Mutation_p.V2060I|FLNB_uc010hnf.2_Missense_Mutation_p.V2047I|FLNB_uc003djl.2_Missense_Mutation_p.V1891I|FLNB_uc003djm.2_Missense_Mutation_p.V1878I|FLNB_uc010hng.1_RNA NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 2071 Interaction with FLNA 1.|Filamin 19.|Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGTTTATATCGTCTCCACCAA 0.562 PHLDB2 90102 broad.mit.edu 37 3 111632476 111632476 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr3:111632476G>A uc010hqa.2 + 3 2057 c.1646G>A c.(1645-1647)CGG>CAG p.R549Q PHLDB2_uc003dyc.2_Missense_Mutation_p.R576Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.R549Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.R549Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.R549Q|PHLDB2_uc003dyi.2_Missense_Mutation_p.R135Q|PHLDB2_uc003dyf.3_Missense_Mutation_p.R549Q NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 549 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 GACCTCACCCGGACTCCTCCA 0.522 PCCB 5096 broad.mit.edu 37 3 135980854 135980854 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr3:135980854G>A uc003eqy.1 + 5 541 c.490G>A c.(490-492)GCA>ACA p.A164T PCCB_uc003eqz.1_Missense_Mutation_p.A164T|PCCB_uc011bmc.1_Missense_Mutation_p.A184T|PCCB_uc011bmd.1_Missense_Mutation_p.A81T NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 164 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) CTCTGGGGGAGCACGGATCCA 0.458 MECOM 2122 broad.mit.edu 37 3 168845829 168845829 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr3:168845829G>A uc003ffi.3 - 4 338 c.69C>T c.(67-69)TGC>TGT p.C23C MECOM_uc010hwk.1_Silent_p.C46C|MECOM_uc003ffj.3_Silent_p.C87C|MECOM_uc011bpi.1_Silent_p.C23C|MECOM_uc003ffn.3_Silent_p.C23C|MECOM_uc003ffk.2_Silent_p.C23C|MECOM_uc003ffl.2_Silent_p.C183C|MECOM_uc011bpj.1_Silent_p.C211C|MECOM_uc011bpk.1_Silent_p.C13C|MECOM_uc010hwn.2_Silent_p.C211C|MECOM_uc003ffm.1_Silent_p.C87C NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 23 C2H2-type 1.|Interaction with MAPK9, SMAD3 and probably SUV39H1. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CACAGTCTTCGCAGCGATATT 0.433 MUC4 4585 broad.mit.edu 37 3 195498599 195498599 + Missense_Mutation SNP C T T rs145772547 TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr3:195498599C>T uc011bto.1 - 6 13242 c.12782G>A c.(12781-12783)CGG>CAG p.R4261Q MUC4_uc003fuz.2_Missense_Mutation_p.G69R|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Missense_Mutation_p.R130Q|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Missense_Mutation_p.R130Q|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.R153Q|MUC4_uc003fvp.2_Missense_Mutation_p.R102Q|MUC4_uc010hzu.1_Missense_Mutation_p.R1001Q NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1146 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CACAGGGTCCCGGCCTGTGAA 0.562 SLC10A4 201780 broad.mit.edu 37 4 48486116 48486116 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr4:48486116G>A uc003gyc.2 + 1 757 c.538G>A c.(538-540)GGC>AGC p.G180S NM_152679 NP_689892 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 180 Helical; (Potential). integral to membrane bile acid:sodium symporter activity central_nervous_system(1) 1 CTGTCCCGGCGGCAATCTCTC 0.632 YTHDC1 91746 broad.mit.edu 37 4 69184554 69184554 + Nonsense_Mutation SNP C A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr4:69184554C>A uc003hdx.2 - 13 2064 c.1711G>T c.(1711-1713)GAA>TAA p.E571* YTHDC1_uc003hdy.2_Nonsense_Mutation_p.E553* NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 571 Arg-rich. upper_aerodigestive_tract(1)|ovary(1) 2 CTGTCCACTTCCTGGTATCGT 0.318 SGMS2 166929 broad.mit.edu 37 4 108831540 108831540 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr4:108831540C>T uc003hyl.3 + 7 1484 c.929C>T c.(928-930)TCT>TTT p.S310F uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.S310F|SGMS2_uc003hyo.2_Missense_Mutation_p.S310F NM_001136258 NP_001129730 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 310 Cytoplasmic (Potential). sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) AATTTCTTATCTCGAGCATGG 0.388 MAML3 55534 broad.mit.edu 37 4 140810713 140810713 + Missense_Mutation SNP T G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr4:140810713T>G uc003ihz.1 - 3 2617 c.1865A>C c.(1864-1866)AAC>ACC p.N622T MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 622 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) CATCAAGGGGTTTTTGTTGGG 0.393 TBC1D9 23158 broad.mit.edu 37 4 141545490 141545490 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr4:141545490C>T uc010ioj.2 - 19 3224 c.2952G>A c.(2950-2952)ACG>ACA p.T984T NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 984 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTAGGCTCACCGTAACAAAGC 0.373 SLC6A18 348932 broad.mit.edu 37 5 1225635 1225635 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr5:1225635G>A uc003jby.1 + 1 166 c.43G>A c.(43-45)GGG>AGG p.G15R NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 15 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTGCGACCTCGGGGATGAGAG 0.642 LHFPL2 10184 broad.mit.edu 37 5 77784877 77784877 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr5:77784877C>T uc003kfo.2 - 5 1206 c.530G>A c.(529-531)GGA>GAA p.G177E NM_005779 NP_005770 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 177 integral to membrane 0 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) GGAGCAGTCTCCAGGTTTGTA 0.512 ARSK 153642 broad.mit.edu 37 5 94918696 94918696 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr5:94918696C>T uc003kld.2 + 4 651 c.493C>T c.(493-495)CGT>TGT p.R165C ARSK_uc010jbg.2_Missense_Mutation_p.R6C|ARSK_uc011cum.1_RNA NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN arylsulfatase K precursor 165 extracellular region arylsulfatase activity|metal ion binding pancreas(1) 1 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) TAATCTTATCCGTAACAGGAC 0.418 PHF15 23338 broad.mit.edu 37 5 133902013 133902013 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr5:133902013C>T uc003kzo.1 + 9 1356 c.1177C>T c.(1177-1179)CGC>TGC p.R393C PHF15_uc011cxt.1_Missense_Mutation_p.R393C|PHF15_uc003kzk.2_Missense_Mutation_p.R409C|PHF15_uc003kzl.2_Missense_Mutation_p.R393C|PHF15_uc003kzm.2_Missense_Mutation_p.R393C|PHF15_uc003kzn.2_Missense_Mutation_p.R393C|PHF15_uc003kzp.2_Missense_Mutation_p.R101C NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 393 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGTGACCCTGCGCAAGCAGCG 0.642 EBF1 1879 broad.mit.edu 37 5 158523369 158523369 + Missense_Mutation SNP G T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr5:158523369G>T uc010jip.2 - 3 639 c.337C>A c.(337-339)CAG>AAG p.Q113K EBF1_uc011ddw.1_5'UTR|EBF1_uc011ddx.1_Missense_Mutation_p.Q113K|EBF1_uc003lxl.3_Missense_Mutation_p.Q113K NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 113 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAGAGAAGCTGAAGCCGGTAG 0.592 T HMGA2 lipoma WWC1 23286 broad.mit.edu 37 5 167841446 167841446 + Silent SNP C T T rs61730020 byFrequency TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr5:167841446C>T uc003lzu.2 + 9 1128 c.1035C>T c.(1033-1035)AAC>AAT p.N345N WWC1_uc003lzv.2_Silent_p.N345N|WWC1_uc011den.1_Silent_p.N345N|WWC1_uc003lzw.2_Silent_p.N144N NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 345 Potential. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TCCTTATCAACGAGAAGGAGG 0.627 TDP2 51567 broad.mit.edu 37 6 24666809 24666809 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr6:24666809C>T uc003nej.2 - 2 221 c.196G>A c.(196-198)GTG>ATG p.V66M TDP2_uc003nei.2_Translation_Start_Site|TDP2_uc010jpu.1_Missense_Mutation_p.V66M|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank NM_016614 NP_057698 O95551 TYDP2_HUMAN TRAF and TNF receptor-associated protein 66 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity ovary(1)|lung(1) 2 CTCTCCTCCACCGGAGGCTCG 0.582 Direct_reversal_of_damage|Editing_and_processing_nucleases UHRF1BP1 54887 broad.mit.edu 37 6 34839664 34839664 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr6:34839664G>A uc003oju.3 + 20 4393 c.4159G>A c.(4159-4161)GTG>ATG p.V1387M UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1387 ovary(3) 3 AAAAGAACAGGTGTTTTTGGT 0.468 TREML4 285852 broad.mit.edu 37 6 41196175 41196175 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr6:41196175G>A uc003oqc.2 + 1 114 c.10G>A c.(10-12)GGT>AGT p.G4S TREML4_uc003oqd.2_5'Flank NM_198153 NP_937796 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid 4 extracellular region breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) AATGGCCTGGGGTGGGGTCCA 0.597 FAM83B 222584 broad.mit.edu 37 6 54804576 54804576 + Missense_Mutation SNP T G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr6:54804576T>G uc003pck.2 + 5 923 c.807T>G c.(805-807)TTT>TTG p.F269L NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 269 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) TTGAGTCCTTTGATGAAGAAT 0.398 ADAP1 11033 broad.mit.edu 37 7 959664 959664 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:959664C>T uc003sjo.3 - 4 505 c.329G>A c.(328-330)CGG>CAG p.R110Q ADAP1_uc011jvs.1_Missense_Mutation_p.R15Q|ADAP1_uc003sjn.3_Missense_Mutation_p.R38Q|ADAP1_uc010ksc.2_Missense_Mutation_p.R38Q NM_006869 NP_006860 O75689 ADAP1_HUMAN centaurin, alpha 1 110 Arf-GAP. cell surface receptor linked signaling pathway|regulation of ARF GTPase activity cytoplasm|nucleus|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding p.R110Q(1) upper_aerodigestive_tract(1) 1 GTACTTGGCCCGGATCCACTG 0.682 MAD1L1 8379 broad.mit.edu 37 7 2255803 2255803 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:2255803G>A uc003slh.1 - 8 1064 c.798C>T c.(796-798)AGC>AGT p.S266S MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.S266S|MAD1L1_uc003slg.1_Silent_p.S266S|MAD1L1_uc010ksh.1_Silent_p.S266S|MAD1L1_uc003sli.1_Silent_p.S174S|MAD1L1_uc010ksi.1_Silent_p.S219S|MAD1L1_uc010ksj.2_Silent_p.S266S NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 266 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GCAGGTGCGCGCTCTCCTCCC 0.637 ELMO1 9844 broad.mit.edu 37 7 36917679 36917679 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:36917679C>T uc003tfk.1 - 19 2065 c.1758G>A c.(1756-1758)CTG>CTA p.L586L ELMO1_uc003tfi.1_Silent_p.L106L|ELMO1_uc003tfj.1_Silent_p.L106L|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Silent_p.L490L|ELMO1_uc010kxg.1_Silent_p.L586L NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 586 PH. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 CTCCGTAATGCAGGACTTTGT 0.453 ELMO1 9844 broad.mit.edu 37 7 37172811 37172811 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:37172811G>A uc003tfk.1 - 14 1422 c.1115C>T c.(1114-1116)ACG>ATG p.T372M ELMO1_uc011kbc.1_Missense_Mutation_p.T276M|ELMO1_uc010kxg.1_Missense_Mutation_p.T372M NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 372 ELMO. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 TGGAGTCTGCGTGAAGTCCAT 0.463 DDC 1644 broad.mit.edu 37 7 50596925 50596925 + Missense_Mutation SNP A G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:50596925A>G uc003tpf.3 - 5 637 c.551T>C c.(550-552)GTG>GCG p.V184A DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.V184A NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 184 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding p.V184V(1) ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TGAGTAAGCCACCAGCTTCTC 0.547 EGFR 1956 broad.mit.edu 37 7 55221743 55221743 + Missense_Mutation SNP A C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:55221743A>C uc003tqk.2 + 7 1033 c.787A>C c.(787-789)ACC>CCC p.T263P EGFR_uc003tqh.2_Missense_Mutation_p.T263P|EGFR_uc003tqi.2_Missense_Mutation_p.T263P|EGFR_uc003tqj.2_Missense_Mutation_p.T263P|EGFR_uc010kzg.1_Missense_Mutation_p.T218P|EGFR_uc011kco.1_Missense_Mutation_p.T210P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 263 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.T263P(4) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GTGCAAGGACACCTGCCCCCC 0.577 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) CACNA2D1 781 broad.mit.edu 37 7 81589046 81589046 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:81589046C>T uc003uhr.1 - 37 3322 c.3066G>A c.(3064-3066)GCG>GCA p.A1022A CACNA2D1_uc011kgy.1_Silent_p.A234A NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 1034 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AAGTCTGCTCCGCTTGTATGA 0.368 ABCB1 5243 broad.mit.edu 37 7 87214993 87214993 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:87214993G>A uc003uiz.1 - 5 539 c.121C>T c.(121-123)CGC>TGC p.R41C ABCB1_uc011khc.1_Missense_Mutation_p.R41C NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 41 Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTTGAATAGCGAAACTAAAAA 0.328 RUNDC3B 154661 broad.mit.edu 37 7 87280179 87280179 + Missense_Mutation SNP C A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:87280179C>A uc003ujb.2 + 2 575 c.164C>A c.(163-165)ACA>AAA p.T55K ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.T55K|RUNDC3B_uc011khe.1_Missense_Mutation_p.T55K|RUNDC3B_uc003ujc.2_Missense_Mutation_p.T55K NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 55 skin(1) 1 Esophageal squamous(14;0.00164) TGCTTTGAGACAATTGATGAT 0.338 PON1 5444 broad.mit.edu 37 7 94937424 94937424 + Silent SNP A T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:94937424A>T uc003uns.2 - 6 694 c.597T>A c.(595-597)GGT>GGA p.G199G PON1_uc011kih.1_Silent_p.G199G NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 199 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) ACCACGCTAAACCCAAATACA 0.418 LRCH4 4034 broad.mit.edu 37 7 100175848 100175848 + Silent SNP G A A rs150987161 byFrequency TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:100175848G>A uc003uvj.2 - 7 935 c.882C>T c.(880-882)TAC>TAT p.Y294Y LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_Translation_Start_Site|LRCH4_uc011kjx.1_RNA NM_002319 NP_002310 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) 294 nervous system development PML body protein binding large_intestine(1)|ovary(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCCACCATCGTACCGATGTC 0.597 PCOLCE 5118 broad.mit.edu 37 7 100201641 100201641 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr7:100201641C>T uc003uvo.2 + 3 462 c.264C>T c.(262-264)CCC>CCT p.P88P uc011kjy.1_RNA|PCOLCE_uc011kkb.1_Silent_p.P88P|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 88 CUB 1. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AGCTGCACCCCGCCTGCCGCT 0.672 SH2D4A 63898 broad.mit.edu 37 8 19190497 19190497 + Silent SNP A G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr8:19190497A>G uc003wzb.2 + 3 549 c.213A>G c.(211-213)GGA>GGG p.G71G SH2D4A_uc011kym.1_Silent_p.G26G|SH2D4A_uc003wzc.2_Silent_p.G71G NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 71 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) GGAAACTTGGAGCTGATAAGG 0.408 CPSF1 29894 broad.mit.edu 37 8 145623823 145623823 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr8:145623823G>A uc003zcj.2 - 19 1838 c.1763C>T c.(1762-1764)ACG>ATG p.T588M NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 588 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CTCCTGCCCCGTCTGCAGGAT 0.672 LRRC14 9684 broad.mit.edu 37 8 145745327 145745327 + Missense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr8:145745327G>A uc003zdk.1 + 2 364 c.218G>A c.(217-219)CGT>CAT p.R73H RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.R73H|LRRC14_uc003zdo.2_5'Flank NM_014665 NP_055480 Q15048 LRC14_HUMAN leucine rich repeat containing 14 73 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CACTGCAGCCGTGCCCTCCTG 0.627 VLDLR 7436 broad.mit.edu 37 9 2643641 2643641 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr9:2643641C>T uc003zhk.1 + 6 1231 c.834C>T c.(832-834)TGC>TGT p.C278C VLDLR_uc003zhl.1_Silent_p.C278C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.C237C NM_003383 NP_003374 P98155 VLDLR_HUMAN very low density lipoprotein receptor isoform a 278 Extracellular (Potential).|LDL-receptor class A 7. cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) CTCGAACTTGCCGACCTGACC 0.488 FAM122A 116224 broad.mit.edu 37 9 71395730 71395730 + Missense_Mutation SNP T C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr9:71395730T>C uc004agw.1 + 1 767 c.650T>C c.(649-651)TTT>TCT p.F217S PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron NM_138333 NP_612206 Q96E09 F122A_HUMAN hypothetical protein LOC116224 217 0 CCAAAGAGATTTTTCCAGGGC 0.453 NFIL3 4783 broad.mit.edu 37 9 94172272 94172272 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr9:94172272C>T uc004arh.2 - 2 1140 c.745G>A c.(745-747)GGG>AGG p.G249R NM_005384 NP_005375 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 249 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 AAAGAATTCCCCATATAGTTT 0.498 FGD3 89846 broad.mit.edu 37 9 95768391 95768391 + Nonsense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr9:95768391C>T uc004asw.2 + 6 1394 c.766C>T c.(766-768)CGA>TGA p.R256* FGD3_uc004asx.2_Nonsense_Mutation_p.R256*|FGD3_uc004asz.2_Nonsense_Mutation_p.R256*|FGD3_uc004ata.2_Nonsense_Mutation_p.R59* NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 256 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 GAACTTTGACCGAGCCGTAGG 0.582 HEMGN 55363 broad.mit.edu 37 9 100700360 100700360 + Missense_Mutation SNP T C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr9:100700360T>C uc004axy.2 - 1 167 c.59A>G c.(58-60)CAA>CGA p.Q20R HEMGN_uc004axz.2_Missense_Mutation_p.Q20R NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 20 Necessary for nuclear localization. cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) GTTCTCTTCTTGATGAGGGTC 0.423 KLF4 9314 broad.mit.edu 37 9 110249362 110249362 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr9:110249362C>T uc004bdh.2 - 3 1907 c.1286G>A c.(1285-1287)GGC>GAC p.G429D KLF4_uc004bdf.1_Missense_Mutation_p.G354D|KLF4_uc004bdg.2_Missense_Mutation_p.G404D NM_004235 NP_004226 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 438 C2H2-type 1. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(2)|lung(1) 3 GTAGGTTTTGCCGCAGCCCGC 0.602 TPRN 286262 broad.mit.edu 37 9 140086816 140086816 + Silent SNP G T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chr9:140086816G>T uc004clt.2 - 3 1785 c.1785C>A c.(1783-1785)GGC>GGA p.G595G TPRN_uc004clu.2_Silent_p.G595G NM_173691 NP_775962 Q4KMQ1 TPRN_HUMAN hypothetical protein LOC286262 isoform 2 656 sensory perception of sound stereocilium 0 AGCTGGACAGGCCTGTGAATG 0.672 OFD1 8481 broad.mit.edu 37 X 13786260 13786260 + Missense_Mutation SNP G C C TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:13786260G>C uc004cvp.3 + 21 3204 c.2845G>C c.(2845-2847)GAC>CAC p.D949H OFD1_uc004cvr.3_Missense_Mutation_p.D479H|OFD1_uc011mil.1_Missense_Mutation_p.D516H|OFD1_uc004cvq.3_Missense_Mutation_p.D772H|OFD1_uc010nen.2_Missense_Mutation_p.D947H|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.D908H|OFD1_uc004cvv.3_Missense_Mutation_p.D907H NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 949 Mediates the interaction with SDCCAG8.|Potential. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 AGAAATAAAAGACAAATCTGC 0.358 HUWE1 10075 broad.mit.edu 37 X 53612010 53612010 + Nonsense_Mutation SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:53612010G>A uc004dsp.2 - 40 5365 c.4963C>T c.(4963-4965)CGA>TGA p.R1655* HUWE1_uc004dsn.2_Nonsense_Mutation_p.R480* NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1655 WWE. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TATCTTCTTCGGCCTGCAGTG 0.378 OGT 8473 broad.mit.edu 37 X 70777507 70777507 + Missense_Mutation SNP C A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:70777507C>A uc004eaa.1 + 12 1804 c.1587C>A c.(1585-1587)AAC>AAA p.N529K BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.N519K|OGT_uc004eac.2_Missense_Mutation_p.N390K|OGT_uc004ead.2_Missense_Mutation_p.N148K NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 529 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) GGCACGGCAACCTGTGCTTAG 0.284 DRP2 1821 broad.mit.edu 37 X 100511129 100511129 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:100511129C>T uc004egz.2 + 21 2638 c.2269C>T c.(2269-2271)CGG>TGG p.R757W DRP2_uc011mrh.1_Missense_Mutation_p.R679W NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 757 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 GTACCTGCTGCGGCACTCCAG 0.582 COL4A5 1287 broad.mit.edu 37 X 107939578 107939578 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:107939578C>T uc004enz.1 + 52 5248 c.5046C>T c.(5044-5046)AGC>AGT p.S1682S COL4A5_uc011mso.1_Silent_p.S1679S|COL4A5_uc011msp.1_Silent_p.S358S NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1676 Collagen IV NC1. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CACGAATTAGCCGATGTCAAG 0.348 Alport_syndrome_with_Diffuse_Leiomyomatosis LONRF3 79836 broad.mit.edu 37 X 118145848 118145848 + Missense_Mutation SNP T A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:118145848T>A uc004eqw.2 + 8 1754 c.1723T>A c.(1723-1725)TTT>ATT p.F575I LONRF3_uc004eqx.2_Missense_Mutation_p.F534I|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.F319I NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 575 Lon. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 CCTGCACATCTTTGAGCCTTG 0.478 FAM70A 55026 broad.mit.edu 37 X 119410766 119410766 + Missense_Mutation SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:119410766C>T uc004eso.3 - 8 948 c.721G>A c.(721-723)GCT>ACT p.A241T FAM70A_uc004esp.3_Missense_Mutation_p.A217T|FAM70A_uc010nqo.2_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 241 Helical; (Potential). integral to membrane lung(1)|breast(1) 2 CCAAGGACAGCGGCAGTGATG 0.527 GLUD2 2747 broad.mit.edu 37 X 120181970 120181970 + Silent SNP G A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:120181970G>A uc004eto.2 + 1 509 c.432G>A c.(430-432)ACG>ACA p.T144T NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 144 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) AGCACCGCACGCCCTGCAAGG 0.572 OCRL 4952 broad.mit.edu 37 X 128701326 128701326 + Missense_Mutation SNP C A A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:128701326C>A uc004euq.2 + 14 1617 c.1452C>A c.(1450-1452)GAC>GAA p.D484E OCRL_uc004eur.2_Missense_Mutation_p.D484E NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 484 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 CTAAAACAGACCGGTGGGATT 0.393 XPNPEP2 7512 broad.mit.edu 37 X 128887224 128887224 + Silent SNP C T T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:128887224C>T uc004eut.1 + 11 1351 c.1107C>T c.(1105-1107)CAC>CAT p.H369H NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 369 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 AGGCCAGCCACGTAAGTCCAC 0.537 SAGE1 55511 broad.mit.edu 37 X 134989538 134989538 + Missense_Mutation SNP T G G TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 Somatic Phase_I Capture Illumina GAIIx c92c1d87-0df9-4c5a-baef-2dd26ad6d75a 92b999aa-f557-4ff7-b5d3-81f6507f6ce1 g.chrX:134989538T>G uc004ezh.2 + 9 1111 c.944T>G c.(943-945)GTA>GGA p.V315G SAGE1_uc010nry.1_Missense_Mutation_p.V284G|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 315 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CCTAATAACGTATTGTCAACT 0.408