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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter PRKCZ 5590 broad.mit.edu 37 1 2116079 2116079 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:2116079C>A uc001aiq.2 + 17 1794 c.1633C>A c.(1633-1635)CTG>ATG p.L545M PRKCZ_uc001air.2_Missense_Mutation_p.L362M|PRKCZ_uc010nyw.1_Missense_Mutation_p.L441M|PRKCZ_uc001ais.2_Missense_Mutation_p.L362M|PRKCZ_uc009vla.2_Missense_Mutation_p.L369M|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Missense_Mutation_p.L393M|uc009vlc.1_5'Flank|C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_3'UTR NM_002744 NP_002735 Q05513 KPCZ_HUMAN protein kinase C, zeta isoform 1 545 AGC-kinase C-terminal. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(2) 6 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CGACTACGGTCTGGACAACTT 0.607 16 14 --- --- --- --- PASS ACTRT2 140625 broad.mit.edu 37 1 2939247 2939247 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:2939247G>C uc001ajz.2 + 1 1202 c.997G>C c.(997-999)GCT>CCT p.A333P NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 333 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CAAGATCACGGCTCCCCCCGA 0.617 23 48 --- --- --- --- PASS CCDC27 148870 broad.mit.edu 37 1 3679954 3679954 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:3679954G>A uc001akv.2 + 7 1318 c.1237G>A c.(1237-1239)GCC>ACC p.A413T NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 413 Glu-rich. skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GGAGCTGCTGGCCCAGCTGGA 0.488 15 43 --- --- --- --- PASS GPR153 387509 broad.mit.edu 37 1 6314950 6314950 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:6314950G>A uc001amp.1 - 2 276 c.16C>T c.(16-18)CGG>TGG p.R6W NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 6 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) CCAGGCAGCCGCCGCTCATCA 0.662 10 8 --- --- --- --- PASS CAMTA1 23261 broad.mit.edu 37 1 7725091 7725091 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:7725091G>C uc001aoi.2 + 9 2691 c.2484G>C c.(2482-2484)CAG>CAC p.Q828H NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 828 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCCCCCAGCAGGGTAGCCTGC 0.711 8 96 --- --- --- --- PASS H6PD 9563 broad.mit.edu 37 1 9305264 9305264 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:9305264G>T uc001apt.2 + 2 544 c.271G>T c.(271-273)GCA>TCA p.A91S NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 91 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CAAGGACATGGCACCCAGTCA 0.577 13 49 --- --- --- --- PASS CROCC 9696 broad.mit.edu 37 1 17264204 17264204 + Missense_Mutation SNP A C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:17264204A>C uc001azt.2 + 10 1331 c.1262A>C c.(1261-1263)AAG>ACG p.K421T CROCC_uc009voy.1_Missense_Mutation_p.K124T|CROCC_uc009voz.1_Missense_Mutation_p.K184T|CROCC_uc001azu.2_5'Flank NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 421 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CAGGTCAACAAGGACCTCACT 0.582 7 57 --- --- --- --- PASS PADI1 29943 broad.mit.edu 37 1 17531716 17531716 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:17531716G>T uc001bah.1 + 1 96 c.4G>T c.(4-6)GCC>TCC p.A2S NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 2 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TGACAGGATGGCCCCAAAGAG 0.587 6 25 --- --- --- --- PASS PAX7 5081 broad.mit.edu 37 1 19062357 19062357 + Missense_Mutation SNP G T T rs140323790 by1000genomes TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:19062357G>T uc001bay.2 + 8 1985 c.1387G>T c.(1387-1389)GGC>TGC p.G463C PAX7_uc001baz.2_Missense_Mutation_p.G461C|PAX7_uc010oct.1_Missense_Mutation_p.G463C NM_002584 NP_002575 P23759 PAX7_HUMAN paired box 7 isoform 1 463 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1) 203 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) CTATCAGTACGGCCAGTACGG 0.642 T FOXO1A alveolar rhabdomyosarcoma 13 36 --- --- --- --- PASS C1QB 713 broad.mit.edu 37 1 22987627 22987627 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:22987627C>T uc001bgd.2 + 3 642 c.510C>T c.(508-510)TTC>TTT p.F170F NM_000491 NP_000482 P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 170 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTACTACTTCACCTACCACG 0.562 11 39 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27106961 27106961 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:27106961G>T uc001bmv.1 + 20 6945 c.6572G>T c.(6571-6573)AGT>ATT p.S2191I ARID1A_uc001bmu.1_Missense_Mutation_p.S1974I|ARID1A_uc001bmx.1_Missense_Mutation_p.S1037I|ARID1A_uc009vsm.1_Missense_Mutation_p.S519I|ARID1A_uc009vsn.1_Missense_Mutation_p.S433I NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2191 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGAAGGGCAGTATCGGCAAC 0.627 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 48 38 --- --- --- --- PASS PTPRU 10076 broad.mit.edu 37 1 29587223 29587223 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:29587223G>T uc001bru.2 + 7 1062 c.952G>T c.(952-954)GTG>TTG p.V318L PTPRU_uc001brv.2_Missense_Mutation_p.V318L|PTPRU_uc001brw.2_Missense_Mutation_p.V318L|PTPRU_uc009vtq.2_Missense_Mutation_p.V318L|PTPRU_uc009vtr.2_Missense_Mutation_p.V318L NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 318 Fibronectin type-III 1.|Extracellular (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CGGGCCGATCGTGCGCAAGGA 0.662 15 53 --- --- --- --- PASS DCDC2B 149069 broad.mit.edu 37 1 32674705 32674705 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:32674705G>A uc001bun.2 + 1 11 c.11G>A c.(10-12)GGC>GAC p.G4D NM_001099434 NP_001092904 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 4 intracellular signal transduction 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) ATGGCAGGTGGCAGTCCAGCA 0.587 13 42 --- --- --- --- PASS FAM167B 84734 broad.mit.edu 37 1 32713219 32713219 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:32713219G>T uc001buw.2 + 1 402 c.197G>T c.(196-198)GGA>GTA p.G66V NM_032648 NP_116037 Q9BTA0 F167B_HUMAN hypothetical protein LOC84734 66 ovary(1) 1 GGACCAGGGGGACCTGGGGAC 0.657 33 65 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39924766 39924766 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:39924766C>G uc010oiu.1 + 56 16665 c.16534C>G c.(16534-16536)CTA>GTA p.L5512V MACF1_uc010ois.1_Missense_Mutation_p.L5010V|MACF1_uc001cde.1_5'Flank|MACF1_uc001cdf.1_5'Flank NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 6968 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGGGAAATCCCTAAGTCAGCC 0.423 23 131 --- --- --- --- PASS PRKAA2 5563 broad.mit.edu 37 1 57157066 57157066 + Splice_Site SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:57157066G>A uc001cyk.3 + 3 308 c.237_splice c.e3-1 p.L79_splice NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 TAACAAAAAAGATACCAGGTG 0.303 19 65 --- --- --- --- PASS DAB1 1600 broad.mit.edu 37 1 57476449 57476449 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:57476449C>T uc001cys.1 - 16 2261 c.1587G>A c.(1585-1587)CAG>CAA p.Q529Q DAB1_uc001cyt.1_Silent_p.Q527Q|DAB1_uc001cyq.1_Silent_p.Q527Q|DAB1_uc001cyr.1_Silent_p.Q443Q|DAB1_uc009vzw.1_Silent_p.Q511Q|DAB1_uc009vzx.1_Silent_p.Q529Q NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 562 cell differentiation|nervous system development skin(2)|ovary(1) 3 TGGATGAGGCCTGTGATCCAT 0.443 33 94 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66036187 66036187 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:66036187G>T uc001dci.2 + 4 274 c.72G>T c.(70-72)TTG>TTT p.L24F LEPR_uc001dcg.2_Missense_Mutation_p.L24F|LEPR_uc001dch.2_Missense_Mutation_p.L24F|LEPR_uc009waq.2_Missense_Mutation_p.L24F|LEPR_uc001dcj.2_Missense_Mutation_p.L24F|LEPR_uc001dck.2_Missense_Mutation_p.L24F NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 24 Extracellular (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CGTTTAACTTGTCATATCCAA 0.323 58 69 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70486774 70486774 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:70486774G>C uc001dep.2 + 14 1423 c.1393G>C c.(1393-1395)GAC>CAC p.D465H LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 465 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TGAATTTGAAGACAAAAAAGA 0.388 13 57 --- --- --- --- PASS IFI44 10561 broad.mit.edu 37 1 79121152 79121152 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:79121152G>A uc001dip.3 + 5 920 c.796G>A c.(796-798)GAC>AAC p.D266N IFI44_uc010orr.1_Missense_Mutation_p.D266N|IFI44_uc010ors.1_5'UTR NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN interferon-induced, hepatitis C-associated 266 response to virus cytoplasm ovary(1)|central_nervous_system(1) 2 GTGCAGGGATGACATATTCTA 0.383 19 187 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86591544 86591544 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:86591544G>A uc001dlj.2 - 3 517 c.475C>T c.(475-477)CAT>TAT p.H159Y COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.H159Y NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 159 TSP N-terminal.|Laminin G-like. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TGCTCATCATGAACACTGTAG 0.343 19 43 --- --- --- --- PASS TGFBR3 7049 broad.mit.edu 37 1 92149357 92149357 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:92149357C>T uc001doh.2 - 17 2961 c.2495G>A c.(2494-2496)AGT>AAT p.S832N TGFBR3_uc009wde.2_Missense_Mutation_p.S527N|TGFBR3_uc010osy.1_Missense_Mutation_p.S790N|TGFBR3_uc001doi.2_Missense_Mutation_p.S831N|TGFBR3_uc001doj.2_Missense_Mutation_p.S831N NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 832 Cytoplasmic (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GTGGGCAGCACTGCTGTTTTC 0.433 8 8 --- --- --- --- PASS EVI5 7813 broad.mit.edu 37 1 92979246 92979246 + Silent SNP C A A rs138799860 TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:92979246C>A uc001dox.2 - 18 2410 c.2400G>T c.(2398-2400)CCG>CCT p.P800P EVI5_uc010otf.1_Silent_p.P811P NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 800 Targeting to the centrosomes.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) CTCTTCTTCTCGGGGGCCGCT 0.483 60 122 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103388930 103388930 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:103388930G>C uc001dul.2 - 47 3934 c.3616C>G c.(3616-3618)CCT>GCT p.P1206A COL11A1_uc001duk.2_Missense_Mutation_p.P402A|COL11A1_uc001dum.2_Missense_Mutation_p.P1218A|COL11A1_uc001dun.2_Missense_Mutation_p.P1167A|COL11A1_uc009weh.2_Missense_Mutation_p.P1090A NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1206 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTTCACCAGGTGGGCCTGGC 0.343 8 14 --- --- --- --- PASS SLC25A24 29957 broad.mit.edu 37 1 108703861 108703861 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:108703861G>T uc001dvn.3 - 4 667 c.453C>A c.(451-453)TTC>TTA p.F151L SLC25A24_uc001dvm.2_Missense_Mutation_p.F132L NM_013386 NP_037518 Q6NUK1 SCMC1_HUMAN solute carrier family 25 member 24 isoform 1 151 EF-hand 4.|Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1) 1 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) GATTAAATAAGAAGTAGTCTC 0.303 35 78 --- --- --- --- PASS VPS72 6944 broad.mit.edu 37 1 151156932 151156932 + Silent SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:151156932T>C uc001exe.1 - 4 466 c.423A>G c.(421-423)ACA>ACG p.T141T VPS72_uc001exf.1_Silent_p.T141T NM_005997 NP_005988 Q15906 VPS72_HUMAN transcription factor-like 1 141 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|pancreas(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACGTTTGTCGTGTATGCTCAG 0.498 23 137 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152057685 152057685 + Nonsense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:152057685G>A uc001ezo.1 - 3 2538 c.2473C>T c.(2473-2475)CAG>TAG p.Q825* NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 825 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGGGCTATCTGAACTTGCTTT 0.478 196 103 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152276658 152276658 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:152276658C>A uc001ezu.1 - 3 10740 c.10704G>T c.(10702-10704)CAG>CAT p.Q3568H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3568 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGACTGCTCCTGAGCAGATC 0.567 Ichthyosis 259 371 --- --- --- --- PASS ADAR 103 broad.mit.edu 37 1 154575070 154575070 + Silent SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:154575070T>C uc001ffh.2 - 2 248 c.48A>G c.(46-48)CCA>CCG p.P16P ADAR_uc001ffj.2_Silent_p.P16P|ADAR_uc001ffi.2_Silent_p.P16P|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_RNA|ADAR_uc001ffn.1_Silent_p.P16P NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 16 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) AGCCTTGAAATGGATGGGTGT 0.507 66 42 --- --- --- --- PASS ZBTB7B 51043 broad.mit.edu 37 1 154987802 154987802 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:154987802G>T uc001fgk.3 + 3 824 c.666G>T c.(664-666)GAG>GAT p.E222D ZBTB7B_uc009wpa.2_Missense_Mutation_p.E222D|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E256D|ZBTB7B_uc010peq.1_Missense_Mutation_p.E256D|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E222D NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 222 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TAGTCCCTGAGGTGCCCACAG 0.687 15 75 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156617450 156617450 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:156617450G>T uc001fpp.2 + 4 953 c.617G>T c.(616-618)GGC>GTC p.G206V BCAN_uc001fpo.2_Missense_Mutation_p.G206V NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 206 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGTGATGCTGGCTGGCTGTCG 0.657 28 170 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156626883 156626883 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:156626883T>G uc001fpp.2 + 10 2540 c.2204T>G c.(2203-2205)ATC>AGC p.I735S NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 735 C-type lectin. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGGACTTCATCAACAGTGGG 0.463 47 19 --- --- --- --- PASS PEAR1 375033 broad.mit.edu 37 1 156883542 156883542 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:156883542C>G uc001fqj.1 + 21 2819 c.2703C>G c.(2701-2703)TTC>TTG p.F901L PEAR1_uc001fqk.1_Missense_Mutation_p.F526L NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 901 Pro-rich. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGGCCCATTCTACAATAAAG 0.577 69 46 --- --- --- --- PASS C1orf92 149499 broad.mit.edu 37 1 156902245 156902245 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:156902245G>A uc001fqm.2 + 14 1643 c.1471G>A c.(1471-1473)GGC>AGC p.G491S C1orf92_uc001fql.2_Missense_Mutation_p.G277S NM_144702 NP_653303 Q8N4P6 LRC71_HUMAN hypothetical protein LOC149499 491 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGGGCTGGAGGGCTTCCTCGC 0.602 8 56 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157491042 157491042 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:157491042C>A uc001fqu.2 - 11 2438 c.2280G>T c.(2278-2280)GGG>GGT p.G760G FCRL5_uc009wsm.2_Silent_p.G760G NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 760 Extracellular (Potential).|Ig-like C2-type 8. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CAGCATGGGTCCCGGGAGCCC 0.537 19 82 --- --- --- --- PASS OR10K1 391109 broad.mit.edu 37 1 158435624 158435624 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:158435624C>A uc010pij.1 + 1 273 c.273C>A c.(271-273)ACC>ACA p.T91T NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGAAGAAGACCATTTCTTTCC 0.483 60 339 --- --- --- --- PASS OR6N1 128372 broad.mit.edu 37 1 158736095 158736095 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:158736095G>A uc010piq.1 - 1 378 c.378C>T c.(376-378)ATC>ATT p.I126I NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GGGGCCGGCAGATGGCTAAAT 0.527 12 49 --- --- --- --- PASS CD84 8832 broad.mit.edu 37 1 160535366 160535366 + Silent SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:160535366G>C uc001fwh.3 - 2 240 c.216C>G c.(214-216)CCC>CCG p.P72P CD84_uc001fwf.3_Silent_p.P72P|CD84_uc001fwg.3_Silent_p.P72P|CD84_uc009wtn.2_Silent_p.P72P|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Silent_p.P72P|CD84_uc001fwk.2_Silent_p.P72P NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 72 Extracellular (Potential). blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CAGTAACTACGGGTGCTGTTT 0.433 278 176 --- --- --- --- PASS C1orf192 257177 broad.mit.edu 37 1 161336228 161336228 + Splice_Site SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:161336228C>A uc001gal.2 - 2 96 c.90_splice c.e2+1 p.E30_splice NM_001013625 NP_001013647 Q5VTH2 CA192_HUMAN hypothetical protein LOC257177 0 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) ACATGGAATACCTCTTTTGTT 0.433 13 422 --- --- --- --- PASS POU2F1 5451 broad.mit.edu 37 1 167370723 167370723 + Silent SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:167370723A>G uc001gec.2 + 14 1578 c.1416A>G c.(1414-1416)GCA>GCG p.A472A POU2F1_uc001ged.2_Silent_p.A470A|POU2F1_uc001gee.2_Silent_p.A472A|POU2F1_uc010plh.1_Silent_p.A409A|POU2F1_uc001gef.2_Silent_p.A484A|POU2F1_uc001geg.2_Silent_p.A370A|POU2F1_uc009wvg.1_Intron NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 472 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 CTAGCAGTGCAGCAACTACCC 0.488 OREG0013970 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 49 --- --- --- --- PASS XCL1 6375 broad.mit.edu 37 1 168549299 168549299 + Splice_Site SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:168549299A>T uc001gfo.1 + 2 82 c.62_splice c.e2-2 p.G21_splice NM_002995 NP_002986 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity 0 all_hematologic(923;0.208) TTTCCTCACCAGGTGTAGGGA 0.418 99 46 --- --- --- --- PASS XCL1 6375 broad.mit.edu 37 1 168549300 168549300 + Splice_Site SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:168549300G>T uc001gfo.1 + 2 82 c.62_splice c.e2-1 p.G21_splice NM_002995 NP_002986 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity 0 all_hematologic(923;0.208) TTCCTCACCAGGTGTAGGGAG 0.423 99 46 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176525531 176525531 + Nonsense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:176525531G>T uc001gkz.2 + 2 1237 c.73G>T c.(73-75)GAG>TAG p.E25* PAPPA2_uc001gky.1_Nonsense_Mutation_p.E25*|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 25 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGCCAACTCTGAGCTGGGCTG 0.517 183 90 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176661310 176661310 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:176661310A>T uc001gkz.2 + 6 3644 c.2480A>T c.(2479-2481)CAT>CTT p.H827L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 827 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCCCGAATGCATTGCTATTTG 0.483 OREG0014001 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 290 --- --- --- --- PASS KIAA1614 57710 broad.mit.edu 37 1 180904462 180904462 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:180904462C>T uc001gok.2 + 5 1484 c.1417C>T c.(1417-1419)CGC>TGC p.R473C KIAA1614_uc001gol.1_Missense_Mutation_p.R94C|KIAA1614_uc001gom.1_Intron NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 473 ovary(3)|skin(1) 4 GCAGCGCCAGCGCCAGGTGCT 0.731 5 5 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181701923 181701923 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:181701923G>A uc001gow.2 + 20 2866 c.2701G>A c.(2701-2703)GGA>AGA p.G901R CACNA1E_uc009wxs.2_Missense_Mutation_p.G789R|CACNA1E_uc001gox.1_Missense_Mutation_p.G127R|CACNA1E_uc009wxt.2_Missense_Mutation_p.G127R NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 901 Cytoplasmic (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 GGAGGCAGGGGGAGGAGAGGC 0.667 24 52 --- --- --- --- PASS LAMC1 3915 broad.mit.edu 37 1 183106930 183106930 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:183106930G>T uc001gpy.3 + 26 4698 c.4441G>T c.(4441-4443)GAC>TAC p.D1481Y NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1481 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAACAAGATGACGCTGACCA 0.398 75 38 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197390270 197390270 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:197390270T>A uc001gtz.2 + 6 1447 c.1312T>A c.(1312-1314)TGT>AGT p.C438S CRB1_uc010poz.1_Missense_Mutation_p.C369S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.C326S|CRB1_uc010ppb.1_Missense_Mutation_p.C438S|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.C87S NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 438 Extracellular (Potential).|EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AGGAAGGGACTGTTCTGATAT 0.448 136 90 --- --- --- --- PASS CACNA1S 779 broad.mit.edu 37 1 201044687 201044687 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:201044687G>T uc001gvv.2 - 13 2111 c.1884C>A c.(1882-1884)GGC>GGA p.G628G NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 628 II.|Extracellular (Potential). YG -> SS (in Ref. 1; AAA51902).|G -> R (in Ref. 2; AAB37235). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGGACGGCCCGCCGTAGGCCA 0.542 82 218 --- --- --- --- PASS IPO9 55705 broad.mit.edu 37 1 201837922 201837922 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:201837922G>A uc001gwz.2 + 16 2052 c.2002G>A c.(2002-2004)GCG>ACG p.A668T NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 668 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 AGGGCTTTGTGCGGTAAGTGG 0.458 22 17 --- --- --- --- PASS TMEM206 55248 broad.mit.edu 37 1 212583782 212583782 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:212583782G>A uc001hjc.3 - 2 286 c.118C>T c.(118-120)CCG>TCG p.P40S TMEM206_uc010pte.1_Missense_Mutation_p.P101S NM_018252 NP_060722 Q9H813 TM206_HUMAN transmembrane protein 206 40 Cytoplasmic (Potential). integral to membrane breast(1) 1 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) AAGATACCCGGACCTTGGACT 0.567 407 305 --- --- --- --- PASS VASH2 79805 broad.mit.edu 37 1 213146147 213146147 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:213146147C>A uc001hjy.2 + 5 927 c.723C>A c.(721-723)CAC>CAA p.H241Q VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Missense_Mutation_p.H176Q|VASH2_uc010ptn.1_Missense_Mutation_p.H137Q|VASH2_uc001hjw.2_Missense_Mutation_p.H197Q NM_001136475 NP_001129947 Q86V25 VASH2_HUMAN vasohibin 2 isoform 3 241 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm 0 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) AATACCTGCACACAGTCAAGA 0.512 66 59 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216061815 216061815 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:216061815C>A uc001hku.1 - 41 8563 c.8176G>T c.(8176-8178)GGG>TGG p.G2726W NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2726 Fibronectin type-III 14.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGCTGCACCCCAGCAGGTCGT 0.498 HNSCC(13;0.011) 74 42 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216373149 216373149 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:216373149C>A uc001hku.1 - 17 4018 c.3631G>T c.(3631-3633)GTT>TTT p.V1211F USH2A_uc001hkv.2_Missense_Mutation_p.V1211F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1211 Extracellular (Potential).|Fibronectin type-III 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCAAATGGAACCAGATTCCAG 0.507 HNSCC(13;0.011) 76 175 --- --- --- --- PASS SPATA17 128153 broad.mit.edu 37 1 217915365 217915365 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:217915365G>T uc001hlh.1 + 6 470 c.444G>T c.(442-444)AAG>AAT p.K148N SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.K148N NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 148 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AAGAGAAGAAGGCTAACCTCG 0.418 109 52 --- --- --- --- PASS RAB3GAP2 25782 broad.mit.edu 37 1 220325052 220325052 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:220325052T>G uc010puk.1 - 34 4086 c.3922A>C c.(3922-3924)ACG>CCG p.T1308P RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.T888P|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.T252P NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 1308 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) CTTTGCCCCGTGAGCACCAGC 0.512 42 175 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223176741 223176741 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:223176741A>T uc001hnu.1 + 8 2149 c.2002A>T c.(2002-2004)ACT>TCT p.T668S NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 668 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TAATATATTCACTTGCTTCAA 0.438 14 212 --- --- --- --- PASS PARP1 142 broad.mit.edu 37 1 226567665 226567665 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:226567665C>T uc001hqd.3 - 10 1672 c.1501G>A c.(1501-1503)GCT>ACT p.A501T NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 501 Automodification domain. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GAGAGCGCAGCCCCTGACTTC 0.602 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 10 244 --- --- --- --- PASS ACTA1 58 broad.mit.edu 37 1 229568451 229568451 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:229568451C>A uc001htm.2 - 3 411 c.306G>T c.(304-306)GAG>GAT p.E102D NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 102 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GGGTGGGGTGCTCCTCGGGAG 0.582 156 61 --- --- --- --- PASS DISC1 27185 broad.mit.edu 37 1 232144658 232144658 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:232144658G>T uc001huz.2 + 11 2223 c.2170G>T c.(2170-2172)GAC>TAC p.D724Y TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pxd.1_Missense_Mutation_p.D369Y|DISC1_uc010pxe.1_Missense_Mutation_p.D724Y|DISC1_uc009xfr.2_Missense_Mutation_p.D679Y|DISC1_uc010pxf.1_3'UTR|DISC1_uc010pxg.1_3'UTR|DISC1_uc010pxh.1_Missense_Mutation_p.D756Y|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.D369Y|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.D602Y|DISC1_uc010pxn.1_Missense_Mutation_p.D369Y|DISC1_uc001hva.2_Missense_Mutation_p.D724Y NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 724 Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with ATF4 and ATF5. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) GCAGATGGATGACTTAGAGGG 0.522 49 14 --- --- --- --- PASS PCNXL2 80003 broad.mit.edu 37 1 233270786 233270786 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:233270786G>A uc001hvl.2 - 21 4045 c.3810C>T c.(3808-3810)TTC>TTT p.F1270F PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1270 Helical; (Potential). integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) ACACCATGAAGAAATCCAGTA 0.338 23 149 --- --- --- --- PASS GNG4 2786 broad.mit.edu 37 1 235747064 235747064 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:235747064C>A uc001hxe.3 - 3 529 c.75G>T c.(73-75)ATG>ATT p.M25I GNG4_uc009xfz.2_Missense_Mutation_p.M25I|GNG4_uc001hxh.3_Missense_Mutation_p.M25I NM_001098722 NP_001092192 P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), 25 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) TACAGGCTTCCATCTTTAGCT 0.517 192 103 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237955441 237955441 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:237955441C>A uc001hyl.1 + 94 13720 c.13600C>A c.(13600-13602)CCC>ACC p.P4534T RYR2_uc010pyb.1_5'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4534 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAAGGAGCTCCCCACGAGAAG 0.453 6 32 --- --- --- --- PASS RNF144A 9781 broad.mit.edu 37 2 7154903 7154903 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:7154903G>C uc002qys.2 + 5 743 c.301G>C c.(301-303)GAG>CAG p.E101Q RNF144A_uc002qyt.2_Intron NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 101 IBR-type. Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) ATTTGAAAGAGGTAGGTGCCT 0.363 16 130 --- --- --- --- PASS GEN1 348654 broad.mit.edu 37 2 17941244 17941244 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:17941244C>A uc002rct.2 + 2 107 c.34C>A c.(34-36)CCT>ACT p.P12T SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.P12T|GEN1_uc002rcu.2_Missense_Mutation_p.P12T NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease 12 N-domain. DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AATTTTGGAGCCTGTTAAGCA 0.403 Homologous_recombination 215 164 --- --- --- --- PASS GCKR 2646 broad.mit.edu 37 2 27728609 27728609 + Missense_Mutation SNP C T T rs138410297 byFrequency TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:27728609C>T uc002rky.2 + 10 841 c.775C>T c.(775-777)CGG>TGG p.R259W GCKR_uc010ezd.2_Missense_Mutation_p.R259W|GCKR_uc010ylu.1_Missense_Mutation_p.R69W NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 259 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) CGGCTCCTCCCGGATGAAAGG 0.552 21 46 --- --- --- --- PASS SLC4A1AP 22950 broad.mit.edu 37 2 27890251 27890251 + Nonsense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:27890251C>T uc002rlk.3 + 3 1420 c.1138C>T c.(1138-1140)CGA>TGA p.R380* NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 380 cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) CTTTTTTGACCGAGAAGGTAT 0.408 37 73 --- --- --- --- PASS WDR43 23160 broad.mit.edu 37 2 29152529 29152529 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:29152529G>T uc002rmo.2 + 11 1422 c.1390G>T c.(1390-1392)GTT>TTT p.V464F NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 464 nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TAGCTTTCCAGTTCTTCTTAC 0.348 12 114 --- --- --- --- PASS CLIP4 79745 broad.mit.edu 37 2 29404720 29404720 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:29404720G>T uc002rmv.2 + 16 2318 c.2079G>T c.(2077-2079)CGG>CGT p.R693R CLIP4_uc002rmw.2_RNA NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 693 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TGACCTATCGGGGAATTAATG 0.403 181 107 --- --- --- --- PASS XDH 7498 broad.mit.edu 37 2 31587050 31587050 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:31587050C>A uc002rnv.1 - 24 2684 c.2605G>T c.(2605-2607)GGG>TGG p.G869W NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 869 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGGGTGTTCCCCACATTGCTG 0.552 16 45 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32750665 32750665 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:32750665G>T uc010ezu.2 + 59 12024 c.11890G>T c.(11890-11892)GTG>TTG p.V3964L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3964 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TACTGTCCCAGTGTTTCACCT 0.418 86 31 --- --- --- --- PASS STRN 6801 broad.mit.edu 37 2 37143248 37143248 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:37143248C>A uc002rpn.2 - 3 394 c.385G>T c.(385-387)GAT>TAT p.D129Y STRN_uc010ezx.2_Missense_Mutation_p.D129Y NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 129 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) GGCTTCATATCTCCCTGATTC 0.308 25 33 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40657159 40657159 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:40657159T>G uc002rrx.2 - 1 286 c.262A>C c.(262-264)ATG>CTG p.M88L SLC8A1_uc002rry.2_Missense_Mutation_p.M88L|SLC8A1_uc002rrz.2_Missense_Mutation_p.M88L|SLC8A1_uc002rsa.2_Missense_Mutation_p.M88L|SLC8A1_uc002rsd.3_Missense_Mutation_p.M88L|SLC8A1_uc002rsb.1_Missense_Mutation_p.M88L|SLC8A1_uc010fan.1_Missense_Mutation_p.M88L|SLC8A1_uc002rsc.1_Missense_Mutation_p.M88L NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 88 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCAAGAAACATGTAGACCATG 0.413 60 92 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43804383 43804383 + Splice_Site SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:43804383T>C uc002rsw.3 - 10 1169 c.817_splice c.e10-1 p.I273_splice THADA_uc002rsx.3_Splice_Site_p.I273_splice|THADA_uc002rsy.3_Intron|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.2_Intron|THADA_uc002rta.2_Intron|THADA_uc002rtb.1_Splice_Site_p.I273_splice|THADA_uc002rtc.3_Splice_Site_p.I273_splice|THADA_uc002rtd.2_Splice_Site_p.I273_splice NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) ACTGCTAATCTGGAAAAATAT 0.428 OREG0014580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 13 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49189894 49189894 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:49189894A>G uc002rww.2 - 10 2140 c.2066T>C c.(2065-2067)CTA>CCA p.L689P FSHR_uc002rwx.2_Missense_Mutation_p.L627P|FSHR_uc010fbn.2_Missense_Mutation_p.L663P NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 689 Cytoplasmic (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TAAATGACTTAGAGGGACAAG 0.333 Gonadal_Dysgenesis_46_XX 43 178 --- --- --- --- PASS CCDC88A 55704 broad.mit.edu 37 2 55522967 55522967 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:55522967G>T uc002ryv.2 - 31 6156 c.5314C>A c.(5314-5316)CCT>ACT p.P1772T CCDC88A_uc010yoz.1_Missense_Mutation_p.P1745T|CCDC88A_uc010ypa.1_Intron|CCDC88A_uc002ryt.2_Missense_Mutation_p.P63T|CCDC88A_uc010fbw.2_Missense_Mutation_p.P274T|CCDC88A_uc002ryu.2_Missense_Mutation_p.P1027T|CCDC88A_uc002rys.2_Missense_Mutation_p.P730T|CCDC88A_uc002ryw.2_Missense_Mutation_p.P1056T|CCDC88A_uc010fby.1_Missense_Mutation_p.P624T NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1773 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 CCTGGTGTAGGTTTTCCCGCA 0.413 27 143 --- --- --- --- PASS CCDC88A 55704 broad.mit.edu 37 2 55544718 55544718 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:55544718T>C uc002ryv.2 - 20 4423 c.3581A>G c.(3580-3582)CAT>CGT p.H1194R CCDC88A_uc010yoz.1_Missense_Mutation_p.H1195R|CCDC88A_uc010ypa.1_Missense_Mutation_p.H1194R|CCDC88A_uc002ryu.2_Missense_Mutation_p.H477R|CCDC88A_uc002rys.2_Missense_Mutation_p.H180R|CCDC88A_uc002ryw.2_Missense_Mutation_p.H478R|CCDC88A_uc010fby.1_Missense_Mutation_p.H74R NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1195 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 AAGGTCTCTATGTTCCACCTC 0.318 80 74 --- --- --- --- PASS BCL11A 53335 broad.mit.edu 37 2 60688134 60688134 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:60688134A>T uc002sae.1 - 4 2141 c.1913T>A c.(1912-1914)CTC>CAC p.L638H BCL11A_uc002sab.2_Missense_Mutation_p.L638H|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.L307H|BCL11A_uc010ypj.1_Missense_Mutation_p.L604H|BCL11A_uc002sad.1_Missense_Mutation_p.L486H|BCL11A_uc002saf.1_Missense_Mutation_p.L604H NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 638 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CTCCTTCTCGAGCTTGATGCG 0.677 T IGH@ B-CLL 30 18 --- --- --- --- PASS VPS54 51542 broad.mit.edu 37 2 64160937 64160937 + Nonsense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:64160937G>A uc002scq.2 - 12 1772 c.1609C>T c.(1609-1611)CAA>TAA p.Q537* VPS54_uc002scp.2_Nonsense_Mutation_p.Q525*|VPS54_uc002sco.2_Nonsense_Mutation_p.Q22*|VPS54_uc010fct.2_Nonsense_Mutation_p.Q384* NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 537 protein transport|retrograde transport, endosome to Golgi 0 GCATTTCTTTGAGAGGTAGTG 0.443 38 83 --- --- --- --- PASS ARHGAP25 9938 broad.mit.edu 37 2 69002433 69002433 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:69002433A>G uc002seu.2 + 2 506 c.142A>G c.(142-144)ATC>GTC p.I48V ARHGAP25_uc010yqk.1_Missense_Mutation_p.I22V|ARHGAP25_uc010fdg.2_Missense_Mutation_p.I48V|ARHGAP25_uc010yql.1_Missense_Mutation_p.I48V|ARHGAP25_uc002sev.2_Missense_Mutation_p.I41V|ARHGAP25_uc002sew.2_Missense_Mutation_p.I41V|ARHGAP25_uc002sex.2_Missense_Mutation_p.I41V|ARHGAP25_uc010fdh.1_RNA NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 48 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 GGAGAGGCCCATCAAGATGGG 0.562 60 168 --- --- --- --- PASS ZNF638 27332 broad.mit.edu 37 2 71607696 71607696 + Splice_Site SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:71607696G>T uc002shx.2 + 10 2696 c.2377_splice c.e10+1 p.A793_splice ZNF638_uc010fec.2_Splice_Site_p.E899_splice|ZNF638_uc010yqw.1_Splice_Site_p.A372_splice|ZNF638_uc002shw.2_Splice_Site_p.G793_splice|ZNF638_uc002shy.2_Splice_Site_p.A793_splice|ZNF638_uc002shz.2_Splice_Site_p.A793_splice|ZNF638_uc002sia.2_Splice_Site_p.A793_splice|ZNF638_uc002sib.1_Splice_Site_p.A793_splice|ZNF638_uc010fed.2_Splice_Site NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 ACTTCTGCTGGTAAGTTGTTA 0.308 14 45 --- --- --- --- PASS C2orf65 130951 broad.mit.edu 37 2 74802644 74802644 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:74802644G>A uc002smy.2 - 7 1112 c.995C>T c.(994-996)CCT>CTT p.P332L C2orf65_uc010ysa.1_Missense_Mutation_p.P332L|C2orf65_uc002smz.2_Missense_Mutation_p.P332L|C2orf65_uc010ffp.2_Missense_Mutation_p.P50L|C2orf65_uc002smx.2_Missense_Mutation_p.P88L NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 332 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 ACAGCTTGTAGGTCTGAGGAT 0.493 64 129 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79385853 79385853 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:79385853C>A uc002sod.1 - 2 374 c.119G>T c.(118-120)TGT>TTT p.C40F REG3A_uc002soe.1_Missense_Mutation_p.C40F|REG3A_uc002sof.1_Missense_Mutation_p.C40F NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 40 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 GCCTTTGGGACAGCGGATCCG 0.547 48 27 --- --- --- --- PASS POLR1A 25885 broad.mit.edu 37 2 86258514 86258514 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:86258514C>A uc002sqs.2 - 30 4896 c.4517G>T c.(4516-4518)CGT>CTT p.R1506L POLR1A_uc010ytb.1_Missense_Mutation_p.R872L NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1506 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GTGGATCTCACGCACAGCCTG 0.677 82 160 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89476590 89476590 + RNA SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:89476590C>A uc010ytr.1 - 27 c.3334G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. ATTAGCAGCCCCAGAAGCTGA 0.542 6 13 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90154149 90154149 + RNA SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:90154149C>A uc010fhm.2 + 20 c.2614C>A Parts of antibodies, mostly variable regions. ACTGGCATCCCAGCCAGGTTC 0.532 38 53 --- --- --- --- PASS ACTR1B 10120 broad.mit.edu 37 2 98274445 98274445 + Missense_Mutation SNP C T T rs138142670 byFrequency TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:98274445C>T uc002syb.2 - 8 1094 c.886G>A c.(886-888)GCC>ACC p.A296T NM_005735 NP_005726 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, 296 centrosome|dynactin complex ATP binding|protein binding skin(1) 1 ACGATGTTGGCGAACAGCGTC 0.607 39 200 --- --- --- --- PASS CNGA3 1261 broad.mit.edu 37 2 99013001 99013001 + Silent SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:99013001G>C uc002syt.2 + 8 1785 c.1368G>C c.(1366-1368)GTG>GTC p.V456V CNGA3_uc002syu.2_Silent_p.V438V|CNGA3_uc010fij.2_Silent_p.V460V NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 456 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 AGAAGGAGGTGCTCAAGAGCC 0.567 58 27 --- --- --- --- PASS MFSD9 84804 broad.mit.edu 37 2 103335075 103335075 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:103335075G>T uc002tcb.2 - 6 1297 c.1229C>A c.(1228-1230)ACC>AAC p.T410N MFSD9_uc010fja.2_RNA NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 410 transmembrane transport integral to membrane|plasma membrane transporter activity ovary(2)|breast(2) 4 GCCAATAAGGGTGCCGCTGGC 0.672 11 21 --- --- --- --- PASS C2orf40 84417 broad.mit.edu 37 2 106690371 106690371 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:106690371G>A uc010fjf.2 + 3 265 c.157G>A c.(157-159)GTT>ATT p.V53I NM_032411 NP_115787 Q9H1Z8 AUGN_HUMAN esophageal cancer related gene 4 protein 53 extracellular region|transport vesicle 0 TAAAGTGGCCGTTGATGAGAA 0.527 76 103 --- --- --- --- PASS STEAP3 55240 broad.mit.edu 37 2 120005289 120005289 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:120005289G>T uc002tlp.2 + 4 684 c.527G>T c.(526-528)CGT>CTT p.R176L STEAP3_uc002tlq.2_Missense_Mutation_p.R186L|STEAP3_uc002tlr.2_Missense_Mutation_p.R176L|STEAP3_uc010fle.2_Missense_Mutation_p.R176L NM_018234 NP_060704 Q658P3 STEA3_HUMAN dudulin 2 isoform b 176 Cytoplasmic (Potential). apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding central_nervous_system(2)|skin(1) 3 GAAGCCAAGCGTGCTGTCTCG 0.642 5 36 --- --- --- --- PASS HS6ST1 9394 broad.mit.edu 37 2 129026314 129026314 + Nonsense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:129026314C>A uc002tpt.3 - 2 692 c.658G>T c.(658-660)GAG>TAG p.E220* NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 220 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGCGGCAGCTCCTCAGGCGTG 0.657 4 73 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131520279 131520279 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:131520279G>A uc002trw.2 + 2 824 c.634G>A c.(634-636)GGC>AGC p.G212S FAM123C_uc010fmv.2_Missense_Mutation_p.G212S|FAM123C_uc010fms.1_Missense_Mutation_p.G212S|FAM123C_uc010fmt.1_Missense_Mutation_p.G212S|FAM123C_uc010fmu.1_Missense_Mutation_p.G212S NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 212 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GGGGCTGGACGGCCTGTGCCA 0.692 20 45 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132021849 132021849 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:132021849G>C uc002tsn.2 + 15 2873 c.2821G>C c.(2821-2823)GAG>CAG p.E941Q PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E541Q|POTEE_uc002tsl.2_Missense_Mutation_p.E523Q|POTEE_uc010fmy.1_Missense_Mutation_p.E405Q NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 941 Actin-like. ATP binding 0 GAAGAGCTACGAGCTGCCCGA 0.607 7 156 --- --- --- --- PASS CCDC74A 90557 broad.mit.edu 37 2 132289288 132289288 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:132289288A>T uc002tta.2 + 4 648 c.596A>T c.(595-597)GAC>GTC p.D199V CCDC74A_uc002ttb.2_Missense_Mutation_p.D133V NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 199 skin(1) 1 TCAAAAGCTGACGTCTCCCAG 0.587 44 77 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141128330 141128330 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:141128330C>T uc002tvj.1 - 71 11929 c.10957G>A c.(10957-10959)GAT>AAT p.D3653N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3653 Extracellular (Potential).|LDL-receptor class A 29. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGAATTCCATCACACAGCCAT 0.393 TSP Lung(27;0.18) 405 171 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141214043 141214043 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:141214043G>C uc002tvj.1 - 62 10916 c.9944C>G c.(9943-9945)TCC>TGC p.S3315C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3315 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGTGCAGTTGGATAAGCAAGT 0.443 TSP Lung(27;0.18) 219 66 --- --- --- --- PASS KIF5C 3800 broad.mit.edu 37 2 149840148 149840148 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:149840148C>A uc010zbu.1 + 15 1952 c.1584C>A c.(1582-1584)ACC>ACA p.T528T KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Silent_p.T80T NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 528 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) CATTGACAACCACACAGAGAG 0.408 10 55 --- --- --- --- PASS RPRM 56475 broad.mit.edu 37 2 154334943 154334943 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:154334943G>T uc002tyq.1 - 1 380 c.137C>A c.(136-138)CCG>CAG p.P46Q NM_019845 NP_062819 Q9NS64 RPRM_HUMAN reprimo, TP53 dependant G2 arrest mediator 46 cell cycle arrest cytoplasm|integral to membrane protein binding 0 ACGCTCGTCCGGGCCTCCCTC 0.657 19 20 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160242947 160242947 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:160242947C>A uc002uao.2 - 22 3740 c.3388G>T c.(3388-3390)GAC>TAC p.D1130Y BAZ2B_uc002uap.2_Missense_Mutation_p.D1094Y NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1130 DDT. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CCCATGCTGTCCCCTATATTT 0.403 40 275 --- --- --- --- PASS RBMS1 5937 broad.mit.edu 37 2 161133862 161133862 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:161133862G>A uc002ubo.2 - 12 1539 c.1095C>T c.(1093-1095)GCC>GCT p.A365A RBMS1_uc002ubj.2_Silent_p.A345A|RBMS1_uc002ubk.2_Silent_p.A329A|RBMS1_uc002ubl.2_Silent_p.A360A|RBMS1_uc002ubn.2_Silent_p.A362A|RBMS1_uc002ubi.3_Silent_p.A378A|RBMS1_uc002ubm.2_Silent_p.A348A|RBMS1_uc002ubp.2_Silent_p.A381A NM_016836 NP_058520 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting 365 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding 0 GTGGCAAGTAGGCTCCTTGCA 0.468 163 120 --- --- --- --- PASS TBR1 10716 broad.mit.edu 37 2 162274732 162274732 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:162274732C>T uc002ubw.1 + 3 1170 c.868C>T c.(868-870)CCG>TCG p.P290S TBR1_uc010foy.2_Missense_Mutation_p.P3S NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 290 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CTATATGCATCCGGATTCCCC 0.438 26 134 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162804144 162804144 + Silent SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:162804144T>C uc002ubx.3 + 17 2356 c.2172T>C c.(2170-2172)GAT>GAC p.D724D SLC4A10_uc002uby.3_Silent_p.D694D|SLC4A10_uc010zcs.1_Silent_p.D705D NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 724 Helical; (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 ATGTTCCAGATGTTCTATTTT 0.443 12 331 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163291984 163291984 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:163291984C>A uc002uch.1 - 8 1890 c.1678G>T c.(1678-1680)GCC>TCC p.A560S KCNH7_uc002uci.2_Missense_Mutation_p.A553S NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 560 Helical; Name=Segment S5; (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) GCAATCAGGGCAAAGATGCAC 0.493 104 46 --- --- --- --- PASS FASTKD1 79675 broad.mit.edu 37 2 170417051 170417051 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:170417051T>A uc002uev.3 - 5 1205 c.817A>T c.(817-819)AGT>TGT p.S273C FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.S259C|FASTKD1_uc002uey.2_Missense_Mutation_p.S236C NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 273 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 TTGTATACACTAAGTATTTTA 0.284 49 57 --- --- --- --- PASS MYO3B 140469 broad.mit.edu 37 2 171225765 171225765 + Silent SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:171225765C>G uc002ufy.2 + 9 992 c.849C>G c.(847-849)TCC>TCG p.S283S MYO3B_uc002ufv.2_Silent_p.S270S|MYO3B_uc010fqb.1_Silent_p.S270S|MYO3B_uc002ufz.2_Silent_p.S283S|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Silent_p.S270S|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 283 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GGCGACCTTCCGTCACACATC 0.418 53 82 --- --- --- --- PASS GAD1 2571 broad.mit.edu 37 2 171686061 171686061 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:171686061G>C uc002ugi.2 + 4 644 c.222G>C c.(220-222)AAG>AAC p.K74N GAD1_uc002ugh.2_Missense_Mutation_p.K74N NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 74 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AATCCTCCAAGAACCTGCTTT 0.547 54 100 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178592440 178592440 + Nonsense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:178592440G>T uc002ulq.2 - 12 2307 c.1989C>A c.(1987-1989)TAC>TAA p.Y663* PDE11A_uc002ulp.2_Nonsense_Mutation_p.Y219*|PDE11A_uc002ulr.2_Nonsense_Mutation_p.Y413*|PDE11A_uc002uls.1_Nonsense_Mutation_p.Y305*|PDE11A_uc002ult.1_Nonsense_Mutation_p.Y413*|PDE11A_uc002ulu.1_Nonsense_Mutation_p.Y305* NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 663 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TCCAGTTGTGGTATAGAACCA 0.463 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 25 67 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179447926 179447926 + Silent SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:179447926A>G uc010zfg.1 - 262 58124 c.57900T>C c.(57898-57900)GCT>GCC p.A19300A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A12995A|TTN_uc010zfi.1_Silent_p.A12928A|TTN_uc010zfj.1_Silent_p.A12803A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20227 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) AAGATTTCATAGCCACACTCA 0.378 18 27 --- --- --- --- PASS CDK15 65061 broad.mit.edu 37 2 202700416 202700416 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:202700416G>T uc002uyt.2 + 8 830 c.781G>T c.(781-783)GTG>TTG p.V261L CDK15_uc010ftm.2_Missense_Mutation_p.V126L|CDK15_uc002uys.2_Missense_Mutation_p.V210L|CDK15_uc010ftn.1_Missense_Mutation_p.V210L|CDK15_uc010fto.1_Missense_Mutation_p.V240L NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 261 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding p.V210M(1) breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) TTCAGAAGTCGTGACCCTCTG 0.527 29 35 --- --- --- --- PASS FAM117B 150864 broad.mit.edu 37 2 203624028 203624028 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:203624028G>T uc010zhx.1 + 7 1413 c.1403G>T c.(1402-1404)AGG>ATG p.R468M NM_173511 NP_775782 Q6P1L5 F117B_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 468 ovary(1) 1 ATGTTCAAAAGGGAACCTCCT 0.393 45 67 --- --- --- --- PASS ICOS 29851 broad.mit.edu 37 2 204822597 204822597 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:204822597A>G uc002vam.2 + 4 644 c.577A>G c.(577-579)AGA>GGA p.R193G ICOS_uc010zip.1_Missense_Mutation_p.R193G|ICOS_uc010fua.2_Intron NM_012092 NP_036224 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator precursor 193 Cytoplasmic (Potential). immune response|T cell costimulation extracellular region 0 CAAAAAATCTAGACTCACAGG 0.388 31 59 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220346141 220346141 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:220346141C>A uc010fwg.2 + 27 5485 c.5485C>A c.(5485-5487)CGG>AGG p.R1829R NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1829 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CAGGGAGGCCCGGGGCTTCCT 0.582 25 38 --- --- --- --- PASS PAX3 5077 broad.mit.edu 37 2 223066851 223066851 + Missense_Mutation SNP G T T rs1042051 TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:223066851G>T uc010fwo.2 - 8 1598 c.1232C>A c.(1231-1233)GCG>GAG p.A411E PAX3_uc002vmt.1_Missense_Mutation_p.A411E|PAX3_uc002vmy.1_Missense_Mutation_p.A410E|PAX3_uc002vmv.1_Missense_Mutation_p.A411E|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 411 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGGGAGAGCGCGTAATCAGT 0.542 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 15 24 --- --- --- --- PASS SCG2 7857 broad.mit.edu 37 2 224462367 224462367 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:224462367T>A uc002vnm.2 - 2 1767 c.1634A>T c.(1633-1635)CAG>CTG p.Q545L NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 545 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TTTGATGGCCTGCTCAATTTG 0.488 42 75 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225657779 225657779 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:225657779T>G uc010fwz.1 - 47 5462 c.5223A>C c.(5221-5223)AAA>AAC p.K1741N DOCK10_uc002vob.2_Missense_Mutation_p.K1735N|DOCK10_uc002voa.2_Missense_Mutation_p.K397N|DOCK10_uc002voc.2_Intron NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1741 DHR-2. 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) TCTTTTCCACTTTCCAGTAAC 0.433 82 192 --- --- --- --- PASS DNER 92737 broad.mit.edu 37 2 230456334 230456334 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:230456334C>A uc002vpv.2 - 2 694 c.547G>T c.(547-549)GGG>TGG p.G183W NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 183 Extracellular (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ACTTTCTGCCCTGTTTTCGGC 0.478 24 45 --- --- --- --- PASS ECEL1 9427 broad.mit.edu 37 2 233348877 233348877 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:233348877G>T uc002vsv.2 - 7 1446 c.1241C>A c.(1240-1242)TCC>TAC p.S414Y ECEL1_uc010fya.1_Missense_Mutation_p.S414Y|ECEL1_uc010fyb.1_Missense_Mutation_p.S121Y NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 414 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GAATGGCGGGGACAGGTGTTC 0.647 10 36 --- --- --- --- PASS OXTR 5021 broad.mit.edu 37 3 8809113 8809113 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:8809113C>A uc003brc.2 - 3 1383 c.761G>T c.(760-762)CGC>CTC p.R254L NM_000916 NP_000907 P30559 OXYR_HUMAN oxytocin receptor 254 Cytoplasmic (Potential). female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity 0 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) CAGGGCCACGCGCCCCCCATC 0.652 5 5 --- --- --- --- PASS C3orf20 84077 broad.mit.edu 37 3 14801436 14801436 + Silent SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:14801436G>C uc003byy.2 + 14 2687 c.2283G>C c.(2281-2283)CTG>CTC p.L761L C3orf20_uc003byz.2_Silent_p.L639L|C3orf20_uc003bza.2_Silent_p.L639L|C3orf20_uc003bzb.1_Silent_p.L262L|C3orf20_uc011avj.1_Silent_p.L88L NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 761 cytoplasm|integral to membrane ovary(3)|skin(1) 4 AGTATGACCTGGACAGCCCCC 0.562 5 35 --- --- --- --- PASS C3orf20 84077 broad.mit.edu 37 3 14801437 14801437 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:14801437G>T uc003byy.2 + 14 2688 c.2284G>T c.(2284-2286)GAC>TAC p.D762Y C3orf20_uc003byz.2_Missense_Mutation_p.D640Y|C3orf20_uc003bza.2_Missense_Mutation_p.D640Y|C3orf20_uc003bzb.1_Missense_Mutation_p.D263Y|C3orf20_uc011avj.1_Missense_Mutation_p.D89Y NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 762 cytoplasm|integral to membrane ovary(3)|skin(1) 4 GTATGACCTGGACAGCCCCCT 0.557 5 35 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19389265 19389265 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:19389265G>T uc003cbk.1 + 5 814 c.619G>T c.(619-621)GCA>TCA p.A207S KCNH8_uc011awe.1_Missense_Mutation_p.A207S|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 207 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 AGTTTCTGATGCAAAAAAGTC 0.368 60 94 --- --- --- --- PASS TOP2B 7155 broad.mit.edu 37 3 25686809 25686809 + Silent SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:25686809T>C uc011awn.1 - 2 265 c.222A>G c.(220-222)TCA>TCG p.S74S TOP2B_uc003cdj.2_Silent_p.S69S NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 74 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 ATGGCTCCACTGACCCAATAT 0.313 33 115 --- --- --- --- PASS UBP1 7342 broad.mit.edu 37 3 33481291 33481291 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:33481291T>A uc003cfq.3 - 1 580 c.50A>T c.(49-51)CAC>CTC p.H17L UBP1_uc003cfr.3_Missense_Mutation_p.H17L|UBP1_uc010hga.2_Missense_Mutation_p.H17L NM_014517 NP_055332 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) isoform a 17 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity kidney(2) 2 GTCGAAGTCGTGCACCAGCCC 0.697 13 36 --- --- --- --- PASS SLC22A13 9390 broad.mit.edu 37 3 38318955 38318955 + Nonstop_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:38318955G>C uc003chz.3 + 10 1709 c.1655G>C c.(1654-1656)TGA>TCA p.*552S NM_004256 NP_004247 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion 552 integral to plasma membrane organic cation transmembrane transporter activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) ACATACTTCTGATTGAGGTCT 0.567 26 45 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38830446 38830446 + Splice_Site SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:38830446C>T uc003ciq.2 - 3 470 c.470_splice c.e3+1 p.E157_splice NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AATCTACTCACTCAATTTTCT 0.383 22 42 --- --- --- --- PASS KBTBD5 131377 broad.mit.edu 37 3 42728173 42728173 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:42728173G>T uc003clv.1 + 1 1163 c.1063G>T c.(1063-1065)GTT>TTT p.V355F NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 355 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) CGTCAGCCTGGTTACCAAGGA 0.572 14 46 --- --- --- --- PASS SEMA3F 6405 broad.mit.edu 37 3 50224169 50224169 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:50224169G>A uc003cyj.2 + 18 2135 c.1937G>A c.(1936-1938)CGG>CAG p.R646Q SEMA3F_uc003cyk.2_Missense_Mutation_p.R615Q NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 646 Ig-like C2-type. axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CCTGGTGACCGGCGCCGAGAG 0.612 5 15 --- --- --- --- PASS CACNA1D 776 broad.mit.edu 37 3 53815622 53815622 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:53815622C>T uc003dgv.3 + 39 4883 c.4720C>T c.(4720-4722)CGG>TGG p.R1574W CACNA1D_uc003dgu.3_Missense_Mutation_p.R1594W|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1559W|CACNA1D_uc003dgw.3_Missense_Mutation_p.R1241W|CACNA1D_uc003dgx.1_Missense_Mutation_p.R750W NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1574 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TGAAGAACTTCGGGCTGTGAT 0.453 16 39 --- --- --- --- PASS PTPRG 5793 broad.mit.edu 37 3 62187209 62187209 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:62187209G>T uc003dlb.2 + 11 2077 c.1358G>T c.(1357-1359)AGA>ATA p.R453I PTPRG_uc003dlc.2_Missense_Mutation_p.R453I NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 453 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CAAGGGACCAGAATAGTGAAA 0.333 15 29 --- --- --- --- PASS C3orf64 285203 broad.mit.edu 37 3 69028822 69028822 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:69028822T>A uc003dnl.2 - 16 1736 c.1331A>T c.(1330-1332)GAA>GTA p.E444V C3orf64_uc003dnj.2_Missense_Mutation_p.E123V|C3orf64_uc003dnk.2_Missense_Mutation_p.E360V|C3orf64_uc011bfw.1_RNA NM_173654 NP_775925 Q5NDL2 AER61_HUMAN AER61 glycosyltransferase 444 extracellular region transferase activity, transferring glycosyl groups ovary(1) 1 Lung NSC(201;0.126) BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216) CACTTACAGTTCAAATACAGC 0.393 16 51 --- --- --- --- PASS LMOD3 56203 broad.mit.edu 37 3 69168128 69168128 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:69168128C>T uc003dns.2 - 2 1587 c.1378G>A c.(1378-1380)GTC>ATC p.V460I LMOD3_uc003dnt.2_Missense_Mutation_p.V460I NM_198271 NP_938012 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 460 cytoplasm|cytoskeleton tropomyosin binding ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CTAAAGGGGACATTTTGGGGG 0.567 14 38 --- --- --- --- PASS MITF 4286 broad.mit.edu 37 3 70008496 70008496 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:70008496G>A uc003dnz.2 + 9 1202 c.1086G>A c.(1084-1086)CAG>CAA p.Q362Q MITF_uc011bgb.1_Silent_p.Q310Q|MITF_uc003doa.2_Silent_p.Q361Q|MITF_uc003dob.2_Silent_p.Q346Q|MITF_uc003dod.2_Silent_p.Q337Q|MITF_uc003doe.2_Silent_p.Q255Q|MITF_uc003dof.2_Silent_p.Q261Q NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 368 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ovary(2) 2 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) AACGAGAACAGCAACGCGCAA 0.463 A melanoma Waardenburg syndrome type 2|Tietz syndrome 16 21 --- --- --- --- PASS ROBO1 6091 broad.mit.edu 37 3 79174626 79174626 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:79174626T>A uc003dqe.2 - 3 360 c.152A>T c.(151-153)GAC>GTC p.D51V NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 51 Extracellular (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CAGCGAATTGTCATCGTTATC 0.502 9 23 --- --- --- --- PASS ARL13B 200894 broad.mit.edu 37 3 93722670 93722670 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:93722670G>T uc003drc.2 + 3 584 c.298G>T c.(298-300)GAT>TAT p.D100Y ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Missense_Mutation_p.D85Y|ARL13B_uc003drf.2_Missense_Mutation_p.D100Y|ARL13B_uc003drg.2_5'UTR NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 100 GTP binding 0 GGATTCCAGTGATGAAGAGAG 0.403 6 162 --- --- --- --- PASS SENP7 57337 broad.mit.edu 37 3 101062529 101062529 + Splice_Site SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:101062529C>A uc003dut.2 - 14 2217 c.2106_splice c.e14+1 p.Q702_splice SENP7_uc003duu.2_Splice_Site_p.Q637_splice|SENP7_uc003duv.2_Splice_Site_p.Q669_splice|SENP7_uc003duw.2_Splice_Site_p.Q636_splice|SENP7_uc003dux.2_Splice_Site_p.Q538_splice NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 GATATGCTAACCTGAGATACT 0.323 27 145 --- --- --- --- PASS DIRC2 84925 broad.mit.edu 37 3 122591354 122591354 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:122591354G>T uc003efw.3 + 8 1370 c.1231G>T c.(1231-1233)GTT>TTT p.V411F DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.V249F NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 411 transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) TGTCTACCCAGTTCCAGAAGG 0.343 58 355 --- --- --- --- PASS SEMA5B 54437 broad.mit.edu 37 3 122632822 122632822 + Nonsense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:122632822G>T uc003efz.1 - 15 2319 c.2015C>A c.(2014-2016)TCG>TAG p.S672* SEMA5B_uc011bju.1_Nonsense_Mutation_p.S614*|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Nonsense_Mutation_p.S672*|SEMA5B_uc010hro.1_Nonsense_Mutation_p.S614*|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 672 Extracellular (Potential).|TSP type-1 1. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CAGCGCCCACGATGACCACGG 0.667 13 82 --- --- --- --- PASS CHCHD6 84303 broad.mit.edu 37 3 126571494 126571494 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:126571494G>T uc003ejf.1 + 5 454 c.416G>T c.(415-417)AGG>ATG p.R139M CHCHD6_uc010hsj.1_Missense_Mutation_p.R140M NM_032343 NP_115719 Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain 139 0 AAGCAGGCCAGGGAGCTGGAG 0.567 50 45 --- --- --- --- PASS ZBTB38 253461 broad.mit.edu 37 3 141161800 141161800 + Silent SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:141161800A>G uc003etw.2 + 8 1552 c.570A>G c.(568-570)AAA>AAG p.K190K ZBTB38_uc010hun.2_Silent_p.K187K|ZBTB38_uc010huo.2_Silent_p.K190K|ZBTB38_uc003ety.2_Silent_p.K190K|ZBTB38_uc010hup.2_Silent_p.K191K NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 190 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CAAGTTTCAAAAAGGTCTCCG 0.502 192 67 --- --- --- --- PASS ATP1B3 483 broad.mit.edu 37 3 141626098 141626098 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:141626098C>A uc003eug.1 + 3 502 c.328C>A c.(328-330)CTT>ATT p.L110I ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.L96I NM_001679 NP_001670 P54709 AT1B3_HUMAN Na+/K+ -ATPase beta 3 subunit 110 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity 0 CATTGAAGACCTTAAGAAGTT 0.323 43 166 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164781244 164781244 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr3:164781244T>C uc003fei.2 - 8 955 c.893A>G c.(892-894)AAT>AGT p.N298S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 298 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGCATTGCTATTCATTAAAAA 0.259 HNSCC(35;0.089) 6 151 --- --- --- --- PASS ZFYVE28 57732 broad.mit.edu 37 4 2343282 2343282 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:2343282G>A uc003gex.1 - 3 560 c.241C>T c.(241-243)CCC>TCC p.P81S ZFYVE28_uc011bvk.1_Missense_Mutation_p.P11S|ZFYVE28_uc011bvl.1_Missense_Mutation_p.P81S|ZFYVE28_uc003gey.3_Missense_Mutation_p.P11S|ZFYVE28_uc003gez.2_Missense_Mutation_p.P34S|ZFYVE28_uc003gew.1_5'Flank NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 81 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 AAATCTCTGGGGGCGCGGTCC 0.582 29 42 --- --- --- --- PASS LDB2 9079 broad.mit.edu 37 4 16510279 16510279 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:16510279C>T uc003goz.2 - 7 1086 c.770G>A c.(769-771)CGG>CAG p.R257Q LDB2_uc003gpa.2_Missense_Mutation_p.R257Q|LDB2_uc003gpb.2_Missense_Mutation_p.R257Q|LDB2_uc011bxh.1_Missense_Mutation_p.R229Q|LDB2_uc010iee.2_Missense_Mutation_p.R257Q|LDB2_uc003goy.2_Missense_Mutation_p.R132Q|LDB2_uc011bxi.1_Missense_Mutation_p.R133Q NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 257 LIM domain binding|transcription cofactor activity 0 CCTTTTTCTCCGTTTGGTTGT 0.478 45 54 --- --- --- --- PASS LGI2 55203 broad.mit.edu 37 4 25014047 25014047 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:25014047C>A uc003grf.2 - 7 829 c.730G>T c.(730-732)GTG>TTG p.V244L NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 244 EAR 1. extracellular region 0 Breast(46;0.173) GCGATGGCCACGTACACATCG 0.468 81 76 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 30724143 30724143 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:30724143C>A uc003gsk.1 + 1 2107 c.1099C>A c.(1099-1101)CTC>ATC p.L367I PCDH7_uc011bxw.1_Missense_Mutation_p.L320I|PCDH7_uc011bxx.1_Missense_Mutation_p.L367I NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 367 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 GTCCGGCTGGCTCAGCGTCCT 0.692 21 15 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 30725461 30725461 + Missense_Mutation SNP A C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:30725461A>C uc003gsk.1 + 1 3425 c.2417A>C c.(2416-2418)AAA>ACA p.K806T PCDH7_uc011bxw.1_Missense_Mutation_p.K759T|PCDH7_uc011bxx.1_Missense_Mutation_p.K806T NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 806 Extracellular (Potential).|Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 TTAGTGGGAAAACTCACCCAA 0.498 11 26 --- --- --- --- PASS ARAP2 116984 broad.mit.edu 37 4 36160997 36160997 + Missense_Mutation SNP C A A rs112661490 TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:36160997C>A uc003gsq.1 - 14 2911 c.2573G>T c.(2572-2574)GGG>GTG p.G858V NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 858 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CAGACTTTGCCCAGCTTTCTT 0.468 32 114 --- --- --- --- PASS FRYL 285527 broad.mit.edu 37 4 48584729 48584729 + Nonsense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:48584729C>A uc003gyh.1 - 20 2376 c.1771G>T c.(1771-1773)GAA>TAA p.E591* FRYL_uc003gyk.2_Nonsense_Mutation_p.E591* NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GCACGCAGTTCTTCATCCATA 0.368 30 118 --- --- --- --- PASS NMU 10874 broad.mit.edu 37 4 56465343 56465343 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:56465343C>T uc003hbc.2 - 9 601 c.495G>A c.(493-495)CGG>CGA p.R165R NMU_uc003hbd.1_RNA|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Silent_p.R80R|NMU_uc010igx.1_RNA NM_006681 NP_006672 P48645 NMU_HUMAN neuromedin U precursor 165 neuropeptide signaling pathway extracellular region 0 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) TTCTTCCATTCCGTGGCTGAA 0.289 4 33 --- --- --- --- PASS KIAA1211 57482 broad.mit.edu 37 4 57181602 57181602 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:57181602C>T uc003hbk.2 + 8 2325 c.1934C>T c.(1933-1935)GCG>GTG p.A645V KIAA1211_uc010iha.2_Missense_Mutation_p.A638V|KIAA1211_uc011bzz.1_Missense_Mutation_p.A555V|KIAA1211_uc003hbm.1_Missense_Mutation_p.A531V NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 645 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CCCGGCGACGCGAGGGCGGGC 0.667 6 11 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62812663 62812663 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:62812663C>A uc010ihh.2 + 13 2420 c.2247C>A c.(2245-2247)AAC>AAA p.N749K LPHN3_uc003hcq.3_Missense_Mutation_p.N749K|LPHN3_uc003hct.2_Missense_Mutation_p.N142K NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 736 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TCCTGTATAACAACTTGGGTC 0.373 59 202 --- --- --- --- PASS TECRL 253017 broad.mit.edu 37 4 65175635 65175635 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:65175635C>A uc003hcv.2 - 6 675 c.566G>T c.(565-567)TGT>TTT p.C189F TECRL_uc003hcw.2_Missense_Mutation_p.C189F NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 189 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TATACAATGACAGAAGCAAGC 0.333 39 55 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70351093 70351093 + Silent SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:70351093A>G uc003hek.3 - 5 1190 c.1143T>C c.(1141-1143)TAT>TAC p.Y381Y UGT2B4_uc011cap.1_Silent_p.Y245Y|UGT2B4_uc003hel.3_Intron NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 381 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 AGATTGCCTCATAGATGCCAT 0.418 74 208 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70361501 70361501 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:70361501G>T uc003hek.3 - 1 126 c.79C>A c.(79-81)CTG>ATG p.L27M UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.L27M NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 27 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 GGCCACACCAGCACCTTTCCA 0.463 47 184 --- --- --- --- PASS CDKL2 8999 broad.mit.edu 37 4 76522207 76522207 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:76522207T>C uc003hiq.2 - 9 1759 c.1234A>G c.(1234-1236)ATT>GTT p.I412V CDKL2_uc011cbp.1_Missense_Mutation_p.I412V NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 412 sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGTGGGGGAATTGCCACGCTT 0.463 108 133 --- --- --- --- PASS PPEF2 5470 broad.mit.edu 37 4 76811182 76811182 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:76811182C>A uc003hix.2 - 5 702 c.345G>T c.(343-345)ACG>ACT p.T115T PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.T115T NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 115 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GGCGTGGCCCCGTGTAACTGT 0.537 63 143 --- --- --- --- PASS FGF5 2250 broad.mit.edu 37 4 81207620 81207620 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:81207620G>T uc003hmd.2 + 3 838 c.601G>T c.(601-603)GGG>TGG p.G201W FGF5_uc003hme.2_3'UTR NM_004464 NP_004455 P12034 FGF5_HUMAN fibroblast growth factor 5 isoform 1 precursor 201 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity ovary(1)|breast(1) 2 AGCCAAACGAGGGTGCAGCCC 0.468 71 93 --- --- --- --- PASS RASGEF1B 153020 broad.mit.edu 37 4 82369222 82369222 + Splice_Site SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:82369222C>A uc003hmi.1 - 5 798 c.654_splice c.e5+1 p.L218_splice RASGEF1B_uc003hmj.1_Splice_Site_p.L217_splice|RASGEF1B_uc010ijq.1_Splice_Site_p.L176_splice NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 AACGGCCTTACCAGCTCTATA 0.463 59 56 --- --- --- --- PASS RASGEF1B 153020 broad.mit.edu 37 4 82369223 82369223 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:82369223C>A uc003hmi.1 - 5 798 c.654G>T c.(652-654)CTG>CTT p.L218L RASGEF1B_uc003hmj.1_Silent_p.L217L|RASGEF1B_uc010ijq.1_Silent_p.L176L NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 218 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 ACGGCCTTACCAGCTCTATAT 0.463 59 56 --- --- --- --- PASS ENOPH1 58478 broad.mit.edu 37 4 83369094 83369094 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:83369094G>C uc003hmv.2 + 2 363 c.106G>C c.(106-108)GAA>CAA p.E36Q ENOPH1_uc003hmw.2_5'UTR|ENOPH1_uc003hmx.2_5'UTR NM_021204 NP_067027 Q9UHY7 ENOPH_HUMAN enolase-phosphatase 1 36 L-methionine salvage from methylthioadenosine cytoplasm|nucleus 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity 0 TCCTTACATCGAAGAAAATGT 0.368 20 22 --- --- --- --- PASS PTPN13 5783 broad.mit.edu 37 4 87671973 87671973 + Nonsense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:87671973G>T uc003hpz.2 + 18 3481 c.3001G>T c.(3001-3003)GGA>TGA p.G1001* PTPN13_uc003hpy.2_Nonsense_Mutation_p.G1001*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.G1001*|PTPN13_uc003hqb.2_Intron NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1001 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AGAGTTGGTGGGAAAACCTTC 0.398 13 29 --- --- --- --- PASS PDLIM5 10611 broad.mit.edu 37 4 95583637 95583637 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:95583637G>T uc003hti.2 + 12 1801 c.1650G>T c.(1648-1650)ATG>ATT p.M550I PDLIM5_uc011cdx.1_Missense_Mutation_p.M447I|PDLIM5_uc003hth.2_Missense_Mutation_p.M441I|PDLIM5_uc003htj.2_Missense_Mutation_p.M225I|PDLIM5_uc003htk.2_Missense_Mutation_p.M579I|PDLIM5_uc011cdy.1_Missense_Mutation_p.M428I|PDLIM5_uc003htl.2_Missense_Mutation_p.M225I NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 isoform a 550 LIM zinc-binding 3. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) CTGGTGACATGTTCCTGGAAG 0.413 72 89 --- --- --- --- PASS MTTP 4547 broad.mit.edu 37 4 100542253 100542253 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:100542253A>T uc003hvc.3 + 18 2634 c.2378A>T c.(2377-2379)GAC>GTC p.D793V MTTP_uc011cej.1_Missense_Mutation_p.D820V NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 793 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) ATCACAGTGGACTCCTCTTTT 0.388 62 70 --- --- --- --- PASS CFI 3426 broad.mit.edu 37 4 110663664 110663664 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:110663664T>G uc003hzr.3 - 12 1725 c.1517A>C c.(1516-1518)AAA>ACA p.K506T CFI_uc003hzq.2_Missense_Mutation_p.K303T|CFI_uc011cft.1_Missense_Mutation_p.K514T|CFI_uc003hzs.3_Missense_Mutation_p.K499T NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 506 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TTCCATTTCTTTTTCATAGAA 0.393 56 40 --- --- --- --- PASS ENPEP 2028 broad.mit.edu 37 4 111482577 111482577 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:111482577G>T uc003iab.3 + 20 3079 c.2737G>T c.(2737-2739)GCA>TCA p.A913S NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 913 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GAGCTTTTTTGCAAAATATCC 0.363 15 34 --- --- --- --- PASS PRSS12 8492 broad.mit.edu 37 4 119219991 119219991 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:119219991G>T uc003ica.1 - 9 1781 c.1734C>A c.(1732-1734)GAC>GAA p.D578E NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 578 SRCR 4. membrane scavenger receptor activity skin(1) 1 GCTTGATACAGTCAGCCAAGG 0.453 58 67 --- --- --- --- PASS PRDM5 11107 broad.mit.edu 37 4 121774680 121774680 + Nonsense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:121774680C>A uc003idn.2 - 3 443 c.193G>T c.(193-195)GGA>TGA p.G65* PRDM5_uc003ido.2_Nonsense_Mutation_p.G65*|PRDM5_uc010ine.2_Nonsense_Mutation_p.G65*|PRDM5_uc010inf.2_Nonsense_Mutation_p.G65*|PRDM5_uc003idp.1_Nonsense_Mutation_p.G65* NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 65 SET. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 AAAACTTCTCCCTTACTCCCA 0.448 97 238 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126242174 126242174 + Silent SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:126242174T>A uc003ifj.3 + 1 4608 c.4608T>A c.(4606-4608)GCT>GCA p.A1536A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1536 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACGCCCTTGCTGCAGACCCAT 0.428 56 205 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126369706 126369706 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:126369706A>T uc003ifj.3 + 9 7535 c.7535A>T c.(7534-7536)AAA>ATA p.K2512I FAT4_uc011cgp.1_Missense_Mutation_p.K810I|FAT4_uc003ifi.1_5'UTR NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2512 Extracellular (Potential).|Cadherin 24. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AATTCTGAAAAATTTCACATT 0.428 25 83 --- --- --- --- PASS TRIM2 23321 broad.mit.edu 37 4 154197105 154197105 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:154197105G>T uc003ing.2 + 3 396 c.195G>T c.(193-195)CAG>CAT p.Q65H TRIM2_uc003inh.2_Missense_Mutation_p.Q92H|TRIM2_uc003ini.1_Missense_Mutation_p.Q83H NM_001130067 NP_001123539 Q9C040 TRIM2_HUMAN tripartite motif-containing 2 isoform 2 65 cytoplasm zinc ion binding central_nervous_system(1) 1 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) TGTGCCGCCAGACCTCCATCC 0.577 15 87 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155156620 155156620 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:155156620C>T uc003inw.2 - 25 7819 c.7819G>A c.(7819-7821)GTG>ATG p.V2607M NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2607 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACAGGGACCACCTCGTTACTG 0.483 39 123 --- --- --- --- PASS NPY2R 4887 broad.mit.edu 37 4 156135540 156135540 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:156135540G>T uc003ioq.2 + 2 944 c.449G>T c.(448-450)AGG>ATG p.R150M NPY2R_uc003ior.2_Missense_Mutation_p.R150M NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 150 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) GACCGGCACAGGTGCATCGTC 0.562 34 26 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162402218 162402218 + Nonsense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr4:162402218A>T uc003iqh.2 - 13 1998 c.1562T>A c.(1561-1563)TTG>TAG p.L521* FSTL5_uc003iqi.2_Nonsense_Mutation_p.L520*|FSTL5_uc010iqv.2_Nonsense_Mutation_p.L511* NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 521 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GACTCTGTCCAAAGTTGGCTG 0.348 53 206 --- --- --- --- PASS ZDHHC11 79844 broad.mit.edu 37 5 801262 801262 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:801262G>T uc011cma.1 - 12 1583 c.1199C>A c.(1198-1200)ACA>AAA p.T400K ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 400 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CATGGGCTCTGTTGTTTCTTG 0.403 31 358 --- --- --- --- PASS TAS2R1 50834 broad.mit.edu 37 5 9629530 9629530 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:9629530G>A uc003jem.1 - 1 934 c.615C>T c.(613-615)ACC>ACT p.T205T NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 205 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 TCATTTGCCGGGTGTGCCTCC 0.502 5 171 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10414598 10414598 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:10414598C>T uc003jet.1 + 20 2133 c.1950C>T c.(1948-1950)ATC>ATT p.I650I MARCH6_uc011cmu.1_Silent_p.I602I|MARCH6_uc003jeu.1_Silent_p.I348I|MARCH6_uc011cmv.1_Silent_p.I545I NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 650 Helical; (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 CCAGCCTCATCTGCCTTACTT 0.318 288 121 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11384928 11384928 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:11384928G>A uc003jfa.1 - 7 1171 c.1026C>T c.(1024-1026)TCC>TCT p.S342S CTNND2_uc010itt.2_Silent_p.S251S|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 342 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TGGGCGAGGAGGAGATGGTGG 0.667 74 24 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13811766 13811766 + Missense_Mutation SNP A C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:13811766A>C uc003jfd.2 - 44 7439 c.7397T>G c.(7396-7398)ATT>AGT p.I2466S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2466 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTTCAGAGGAATCAGGCCTTG 0.403 Kartagener_syndrome 7 468 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14465677 14465677 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:14465677C>T uc003jff.2 + 37 5697 c.5691C>T c.(5689-5691)CGC>CGT p.R1897R TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Silent_p.R1546R|TRIO_uc003jfi.1_Silent_p.R200R NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1897 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TATTAGTCCGCCCCACCAGCT 0.517 14 223 --- --- --- --- PASS ZNF622 90441 broad.mit.edu 37 5 16465700 16465700 + Silent SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:16465700C>G uc003jfq.2 - 1 195 c.75G>C c.(73-75)ACG>ACC p.T25T NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 25 U1-type 1. cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 GGTGCCAGTCCGTCTTATAGT 0.672 18 147 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21975465 21975465 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:21975465G>A uc010iuc.2 - 3 719 c.261C>T c.(259-261)GGC>GGT p.G87G CDH12_uc011cno.1_Silent_p.G87G|CDH12_uc003jgk.2_Silent_p.G87G NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 87 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 ATTTCACAGTGCCCTCTCCCT 0.368 HNSCC(59;0.17) 318 142 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32087950 32087950 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:32087950G>C uc003jhl.2 + 20 4784 c.4396G>C c.(4396-4398)GGT>CGT p.G1466R PDZD2_uc003jhm.2_Missense_Mutation_p.G1466R NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1466 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CGGGGCTGGAGGTGGGAGCTC 0.706 31 14 --- --- --- --- PASS NPR3 4883 broad.mit.edu 37 5 32774933 32774933 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:32774933G>T uc003jhv.2 + 4 1397 c.1179G>T c.(1177-1179)TGG>TGT p.W393C NPR3_uc010iuo.2_Missense_Mutation_p.W177C|NPR3_uc011cnz.1_Missense_Mutation_p.W177C|NPR3_uc003jhu.2_Missense_Mutation_p.W393C NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 393 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) AGCAGACTTGGAACAGAACAT 0.453 58 350 --- --- --- --- PASS TARS 6897 broad.mit.edu 37 5 33461108 33461108 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:33461108G>C uc003jhy.2 + 12 1647 c.1352G>C c.(1351-1353)GGA>GCA p.G451A TARS_uc011cob.1_Missense_Mutation_p.G439A|TARS_uc010iup.1_Missense_Mutation_p.G392A|TARS_uc011coc.1_Missense_Mutation_p.G472A|TARS_uc003jhz.2_Missense_Mutation_p.G347A|TARS_uc011cod.1_Missense_Mutation_p.G330A NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 451 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) GCACTCACAGGACTCACCCGG 0.493 46 286 --- --- --- --- PASS IL7R 3575 broad.mit.edu 37 5 35873682 35873682 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:35873682T>G uc003jjs.2 + 5 727 c.638T>G c.(637-639)TTT>TGT p.F213C IL7R_uc011coo.1_Missense_Mutation_p.F213C|IL7R_uc011cop.1_Intron NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 213 Extracellular (Potential).|Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GATCACTATTTTAAAGGCTTC 0.423 9 310 --- --- --- --- PASS C5orf51 285636 broad.mit.edu 37 5 41909865 41909865 + Silent SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:41909865A>T uc003jmo.2 + 3 225 c.225A>T c.(223-225)ACA>ACT p.T75T NM_175921 NP_787117 A6NDU8 CE051_HUMAN hypothetical protein LOC285636 75 0 TGGACATGACATATTTTGAGG 0.294 25 129 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63257019 63257019 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:63257019G>T uc011cqt.1 - 1 528 c.528C>A c.(526-528)CGC>CGA p.R176R NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 176 Helical; Name=4; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CTTCCGGGGTGCGCCAGCCCA 0.597 59 58 --- --- --- --- PASS IQGAP2 10788 broad.mit.edu 37 5 75954376 75954376 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:75954376G>T uc003kek.2 + 21 2635 c.2413G>T c.(2413-2415)GCA>TCA p.A805S IQGAP2_uc010izv.2_Missense_Mutation_p.A358S|IQGAP2_uc011csv.1_Missense_Mutation_p.A301S|IQGAP2_uc003kel.2_Missense_Mutation_p.A301S NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 805 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACTAGAGGTTGCACGATTAAG 0.448 78 28 --- --- --- --- PASS YTHDC2 64848 broad.mit.edu 37 5 112915353 112915353 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:112915353G>T uc003kqn.2 + 24 3498 c.3315G>T c.(3313-3315)TTG>TTT p.L1105F NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1105 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TGGCAGCCTTGAAACTTGATG 0.368 90 45 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140166631 140166631 + Silent SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:140166631A>G uc003lhb.2 + 1 756 c.756A>G c.(754-756)TTA>TTG p.L252L PCDHA1_uc003lha.2_Silent_p.L252L|PCDHA1_uc003lgz.2_Silent_p.L252L NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 252 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCACTTGTTAGAGACTACAG 0.463 49 64 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140167155 140167155 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:140167155C>A uc003lhb.2 + 1 1280 c.1280C>A c.(1279-1281)GCG>GAG p.A427E PCDHA1_uc003lha.2_Missense_Mutation_p.A427E|PCDHA1_uc003lgz.2_Missense_Mutation_p.A427E NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 427 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGTGACCGCGCGGGACGGG 0.647 50 30 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140223247 140223247 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:140223247G>A uc003lhs.2 + 1 2341 c.2341G>A c.(2341-2343)GGA>AGA p.G781R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.G781R NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 781 Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGATCTGGGATCAGTTGA 0.473 39 26 --- --- --- --- PASS PCDHB5 26167 broad.mit.edu 37 5 140515490 140515490 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:140515490G>T uc003liq.2 + 1 691 c.474G>T c.(472-474)CAG>CAT p.Q158H NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 158 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATAGCCCAGGACTTTGACA 0.453 77 36 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140553340 140553340 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:140553340C>A uc003lit.2 + 1 1098 c.924C>A c.(922-924)GAC>GAA p.D308E NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 308 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCAATTGGACTATGAGGCAA 0.408 63 24 --- --- --- --- PASS PCDHB11 56125 broad.mit.edu 37 5 140580788 140580788 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:140580788G>T uc003liy.2 + 1 1441 c.1441G>T c.(1441-1443)GGC>TGC p.G481C PCDHB11_uc011daj.1_Missense_Mutation_p.G116C NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 481 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGAGACTCAGGCACCAACGC 0.632 83 37 --- --- --- --- PASS PCDHGA2 56113 broad.mit.edu 37 5 140720359 140720359 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:140720359C>T uc003ljk.1 + 1 2006 c.1821C>T c.(1819-1821)CAC>CAT p.H607H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.H607H NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 607 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCTTACCACCTGCTCAAGG 0.692 19 55 --- --- --- --- PASS PDGFRB 5159 broad.mit.edu 37 5 149503824 149503824 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:149503824C>T uc003lro.2 - 14 2481 c.2012G>A c.(2011-2013)TGC>TAC p.C671Y PDGFRB_uc010jhd.2_Missense_Mutation_p.C510Y NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 671 Cytoplasmic (Potential).|Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TCCTTTGGTGCAGGCCCCCAA 0.642 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 20 12 --- --- --- --- PASS ZNF300 91975 broad.mit.edu 37 5 150277688 150277688 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:150277688C>A uc003lsy.1 - 5 468 c.201G>T c.(199-201)TGG>TGT p.W67C IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTTTATGATCCATGGCTCTT 0.373 77 42 --- --- --- --- PASS TRIM7 81786 broad.mit.edu 37 5 180625213 180625213 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr5:180625213G>T uc003mmz.1 - 6 1061 c.994C>A c.(994-996)CTT>ATT p.L332I TRIM7_uc003mmv.1_Missense_Mutation_p.L150I|TRIM7_uc003mmw.1_Missense_Mutation_p.L124I|TRIM7_uc003mmx.1_Missense_Mutation_p.L124I|TRIM7_uc003mmy.1_Missense_Mutation_p.L124I NM_203293 NP_976038 Q9C029 TRIM7_HUMAN tripartite motif-containing 7 isoform 1 332 B30.2/SPRY. cytoplasm|nucleus zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) TCTCCCCGAAGGTCCTCTGAG 0.522 23 7 --- --- --- --- PASS KIAA0319 9856 broad.mit.edu 37 6 24564511 24564511 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:24564511C>A uc011djo.1 - 15 2587 c.2350G>T c.(2350-2352)GGG>TGG p.G784W KIAA0319_uc011djp.1_Missense_Mutation_p.G739W|KIAA0319_uc003neh.1_Missense_Mutation_p.G784W|KIAA0319_uc011djq.1_Missense_Mutation_p.G775W|KIAA0319_uc011djr.1_Missense_Mutation_p.G784W|KIAA0319_uc010jpt.1_Missense_Mutation_p.G195W NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 784 PKD 5.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 GTGTACACCCCCTCCACCAGA 0.587 29 18 --- --- --- --- PASS KIAA0319 9856 broad.mit.edu 37 6 24564512 24564512 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:24564512C>A uc011djo.1 - 15 2586 c.2349G>T c.(2347-2349)GAG>GAT p.E783D KIAA0319_uc011djp.1_Missense_Mutation_p.E738D|KIAA0319_uc003neh.1_Missense_Mutation_p.E783D|KIAA0319_uc011djq.1_Missense_Mutation_p.E774D|KIAA0319_uc011djr.1_Missense_Mutation_p.E783D|KIAA0319_uc010jpt.1_Missense_Mutation_p.E194D NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 783 PKD 5.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 TGTACACCCCCTCCACCAGAT 0.582 29 18 --- --- --- --- PASS SLC17A1 6568 broad.mit.edu 37 6 25820133 25820133 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:25820133T>C uc003nfh.3 - 4 334 c.218A>G c.(217-219)TAT>TGT p.Y73C SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.Y71C|SLC17A1_uc010jqc.1_Missense_Mutation_p.Y71C NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 73 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 GCTCCAATTATACATAGGGTT 0.423 68 25 --- --- --- --- PASS SCAND3 114821 broad.mit.edu 37 6 28543354 28543354 + Silent SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:28543354T>C uc003nlo.2 - 3 1746 c.1128A>G c.(1126-1128)CAA>CAG p.Q376Q NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 376 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 TAAGATCTACTTGGCATCTTG 0.348 166 48 --- --- --- --- PASS ZNF311 282890 broad.mit.edu 37 6 28962925 28962925 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:28962925T>A uc003nlu.2 - 7 2367 c.1854A>T c.(1852-1854)AAA>AAT p.K618N ZNF311_uc011dlk.1_Missense_Mutation_p.K526N|ZNF311_uc003nlv.2_Missense_Mutation_p.K526N NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 618 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 CTCTAAAAGCTTTTCCACATT 0.453 94 29 --- --- --- --- PASS ZNF311 282890 broad.mit.edu 37 6 28962926 28962926 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:28962926T>G uc003nlu.2 - 7 2366 c.1853A>C c.(1852-1854)AAA>ACA p.K618T ZNF311_uc011dlk.1_Missense_Mutation_p.K526T|ZNF311_uc003nlv.2_Missense_Mutation_p.K526T NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 618 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 TCTAAAAGCTTTTCCACATTC 0.448 94 30 --- --- --- --- PASS MDC1 9656 broad.mit.edu 37 6 30672713 30672713 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:30672713G>A uc003nrg.3 - 10 4687 c.4247C>T c.(4246-4248)CCT>CTT p.P1416L MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P1023L NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1416 Pro-rich.|Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GGAAGTGGAAGGCTCGAGCTT 0.557 Other_conserved_DNA_damage_response_genes 153 28 --- --- --- --- PASS ZNF318 24149 broad.mit.edu 37 6 43322911 43322911 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:43322911G>A uc003oux.2 - 4 2239 c.2161C>T c.(2161-2163)CAT>TAT p.H721Y ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 721 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CCTGAAATATGACCCACTGGA 0.517 57 16 --- --- --- --- PASS BMP5 653 broad.mit.edu 37 6 55638864 55638864 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:55638864C>G uc003pcq.2 - 4 1722 c.1010G>C c.(1009-1011)AGA>ACA p.R337T BMP5_uc011dxf.1_Missense_Mutation_p.R337T NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 337 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) ACTGGACATTCTGGAGGAGTC 0.448 18 161 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 71004007 71004007 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:71004007C>A uc003pfg.3 - 5 718 c.559G>T c.(559-561)GTG>TTG p.V187L NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 187 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CTCCTCTCCACGCCAATCATG 0.433 90 112 --- --- --- --- PASS TTK 7272 broad.mit.edu 37 6 80737728 80737728 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:80737728G>T uc003pjc.2 + 13 1595 c.1521G>T c.(1519-1521)CAG>CAT p.Q507H TTK_uc003pjb.3_Missense_Mutation_p.Q506H NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 507 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AAAATTTACAGGTTCGATAAG 0.373 34 33 --- --- --- --- PASS FAM46A 55603 broad.mit.edu 37 6 82461468 82461468 + Nonsense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:82461468G>A uc003pjg.2 - 2 709 c.391C>T c.(391-393)CAG>TAG p.Q131* FAM46A_uc003pjf.2_Nonsense_Mutation_p.Q150*|FAM46A_uc003pjh.1_Nonsense_Mutation_p.Q131* NM_017633 NP_060103 Q96IP4 FA46A_HUMAN hypothetical protein LOC55603 131 0 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) CCGCTGTCCTGGTGCAGGACA 0.667 26 25 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90415838 90415838 + Silent SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:90415838T>A uc003pnn.1 - 53 8204 c.8088A>T c.(8086-8088)GCA>GCT p.A2696A NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2696 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCAGGACTAGTGCATCACAAA 0.408 39 39 --- --- --- --- PASS FUT9 10690 broad.mit.edu 37 6 96652006 96652006 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:96652006T>A uc003pop.3 + 3 1316 c.975T>A c.(973-975)AAT>AAA p.N325K NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 325 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) TCACTGTAAATCTTCCACGAT 0.368 30 102 --- --- --- --- PASS BEND3 57673 broad.mit.edu 37 6 107391664 107391664 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:107391664G>A uc003prs.2 - 5 1381 c.731C>T c.(730-732)CCT>CTT p.P244L NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 244 BEN 1. ovary(3) 3 CTGGTACTCAGGGGGCGGCTG 0.637 9 33 --- --- --- --- PASS GPRC6A 222545 broad.mit.edu 37 6 117130548 117130548 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:117130548C>A uc003pxj.1 - 2 449 c.427G>T c.(427-429)GTC>TTC p.V143F GPRC6A_uc003pxk.1_Missense_Mutation_p.V143F|GPRC6A_uc003pxl.1_Missense_Mutation_p.V143F NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 143 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GAACCTATGACAGCCTTAACT 0.438 43 59 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117240430 117240430 + Nonsense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:117240430C>T uc003pxm.2 + 11 1216 c.1153C>T c.(1153-1155)CGA>TGA p.R385* NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 385 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TTCTCTGAAACGACAAACATC 0.363 14 88 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117681563 117681563 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:117681563C>A uc003pxp.1 - 22 3586 c.3387G>T c.(3385-3387)AGG>AGT p.R1129S ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1129 Fibronectin type-III 5.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATGTAAAGGCCCTAACCTAAA 0.358 T GOPC|ROS1 glioblastoma|NSCLC 37 34 --- --- --- --- PASS MCM9 254394 broad.mit.edu 37 6 119252620 119252620 + Missense_Mutation SNP A C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:119252620A>C uc003pyh.2 - 2 532 c.269T>G c.(268-270)GTT>GGT p.V90G NM_153255 NP_694987 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 90 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity ovary(1) 1 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) TTTCATGGAAACAGCCTCAGG 0.393 40 32 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123892145 123892145 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:123892145A>T uc003pzj.1 - 2 177 c.155T>A c.(154-156)CTG>CAG p.L52Q TRDN_uc003pzk.1_Missense_Mutation_p.L52Q|TRDN_uc003pzl.1_Missense_Mutation_p.L52Q|TRDN_uc010ken.2_Missense_Mutation_p.L52Q|TRDN_uc010keo.1_Missense_Mutation_p.L52Q NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 52 Helical; (Potential). muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) GGCAATGACCAGAAGCCAGGC 0.453 14 84 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130378584 130378584 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:130378584G>T uc003qbt.2 + 9 871 c.701G>T c.(700-702)TGG>TTG p.W234L L3MBTL3_uc003qbu.2_Missense_Mutation_p.W209L NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 234 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) GCGTGGTGCTGGGCATCCTAC 0.527 7 14 --- --- --- --- PASS TAAR5 9038 broad.mit.edu 37 6 132910476 132910476 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:132910476A>T uc003qdk.2 - 1 402 c.350T>A c.(349-351)TTC>TAC p.F117Y NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 117 Helical; Name=3; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GGTGAGGCAGAAGAGGGTGTC 0.582 21 80 --- --- --- --- PASS VNN2 8875 broad.mit.edu 37 6 133077158 133077158 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:133077158C>A uc003qdt.2 - 3 372 c.361G>T c.(361-363)GTA>TTA p.V121L VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Missense_Mutation_p.V121L|VNN2_uc003qdv.2_Missense_Mutation_p.V68L NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 121 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CTTGCTTGTACTGGTGTGTGA 0.363 7 32 --- --- --- --- PASS PHACTR2 9749 broad.mit.edu 37 6 144098473 144098473 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:144098473G>T uc003qjq.3 + 9 1695 c.1565G>T c.(1564-1566)AGC>ATC p.S522I PHACTR2_uc010khh.2_Missense_Mutation_p.S442I|PHACTR2_uc010khi.2_Missense_Mutation_p.S533I|PHACTR2_uc003qjr.3_Missense_Mutation_p.S453I NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 522 RPEL 3. actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) AGGAGGCTGAGCCAGAGGCCC 0.373 11 33 --- --- --- --- PASS SASH1 23328 broad.mit.edu 37 6 148864899 148864899 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:148864899A>G uc003qme.1 + 18 2768 c.2293A>G c.(2293-2295)AAT>GAT p.N765D SASH1_uc011eeb.1_Missense_Mutation_p.N526D|SASH1_uc003qmf.1_Missense_Mutation_p.N175D NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 765 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CCAGTTGGGCAATTACCCAAC 0.537 85 74 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165792838 165792838 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr6:165792838G>T uc003qun.2 - 19 2041 c.1800C>A c.(1798-1800)ATC>ATA p.I600I PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.I530I|PDE10A_uc003quo.2_Silent_p.I610I NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 600 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GAGTGGAGAAGATATTGTGCC 0.383 14 64 --- --- --- --- PASS SNX8 29886 broad.mit.edu 37 7 2302977 2302977 + Missense_Mutation SNP G T T rs10229132 byFrequency TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:2302977G>T uc003slw.2 - 7 846 c.803C>A c.(802-804)ACC>AAC p.T268N NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 268 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) GGGCAGCGGGGTCGTGTCAGA 0.632 7 14 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 4249700 4249700 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:4249700C>T uc003smx.2 + 38 5584 c.5445C>T c.(5443-5445)TCC>TCT p.S1815S SDK1_uc010kso.2_Silent_p.S1071S|SDK1_uc003smy.2_Silent_p.S302S NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1815 Fibronectin type-III 12. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AAATAACCTCCACCACGCTCA 0.572 58 64 --- --- --- --- PASS FBXL18 80028 broad.mit.edu 37 7 5540380 5540380 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:5540380C>A uc003soo.2 - 3 1614 c.1520G>T c.(1519-1521)CGC>CTC p.R507L FBXL18_uc003son.3_Missense_Mutation_p.R507L NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 507 central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GAGCGAGTTGCGGATGGCGGG 0.662 20 8 --- --- --- --- PASS ZNF12 7559 broad.mit.edu 37 7 6730591 6730591 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:6730591T>C uc003sqt.1 - 5 2536 c.1982A>G c.(1981-1983)TAT>TGT p.Y661C ZNF12_uc011jxa.1_Missense_Mutation_p.Y499C|ZNF12_uc003sqs.1_Missense_Mutation_p.Y623C NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 661 C2H2-type 15. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) AGTACACTCATAGGGTTTCTC 0.393 18 91 --- --- --- --- PASS ICA1 3382 broad.mit.edu 37 7 8167591 8167591 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:8167591C>A uc003srm.2 - 13 1309 c.1242G>T c.(1240-1242)GAG>GAT p.E414D ICA1_uc010ktr.2_Missense_Mutation_p.E443D|ICA1_uc003srl.2_Missense_Mutation_p.E402D|ICA1_uc003srn.3_Missense_Mutation_p.E340D|ICA1_uc003srp.3_Missense_Mutation_p.E413D|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.E414D|ICA1_uc003srr.2_Missense_Mutation_p.E413D|ICA1_uc003sro.3_Missense_Mutation_p.E414D NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 414 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TGGGGTCTGGCTCTCCCAGGG 0.552 157 153 --- --- --- --- PASS OSBPL3 26031 broad.mit.edu 37 7 24874224 24874224 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:24874224C>A uc003sxf.2 - 15 2032 c.1627G>T c.(1627-1629)GTG>TTG p.V543L OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.V507L|OSBPL3_uc003sxh.2_Missense_Mutation_p.V512L|OSBPL3_uc003sxi.2_Missense_Mutation_p.V476L|OSBPL3_uc003sxj.1_Missense_Mutation_p.V272L|OSBPL3_uc003sxk.1_Missense_Mutation_p.V241L NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 543 lipid transport lipid binding|protein binding skin(1) 1 GGCATGGCCACCTTGGACAGG 0.632 51 50 --- --- --- --- PASS NOD1 10392 broad.mit.edu 37 7 30475671 30475671 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:30475671T>C uc003tav.2 - 11 3087 c.2564A>G c.(2563-2565)GAA>GGA p.E855G NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 855 LRR 6. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 CTTTCCTCCTTCTGTGGAGAT 0.408 14 50 --- --- --- --- PASS SFRP4 6424 broad.mit.edu 37 7 37955994 37955994 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:37955994C>T uc003tfo.3 - 1 532 c.146G>A c.(145-147)AGC>AAC p.S49N NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 49 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 CTCCTGCGTGCTGTGGTGCAG 0.672 55 49 --- --- --- --- PASS SFRP4 6424 broad.mit.edu 37 7 37956126 37956126 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:37956126A>T uc003tfo.3 - 1 400 c.14T>A c.(13-15)ATC>AAC p.I5N NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 5 brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 CGCCACTAGGATGGAGAGGAA 0.677 14 13 --- --- --- --- PASS C7orf57 136288 broad.mit.edu 37 7 48086126 48086126 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:48086126C>T uc003toh.3 + 5 632 c.420C>T c.(418-420)AGC>AGT p.S140S C7orf57_uc003toi.3_Silent_p.S14S NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 140 ovary(1) 1 CCAATGGTAGCTATGCATCCA 0.498 6 16 --- --- --- --- PASS DDC 1644 broad.mit.edu 37 7 50531071 50531071 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:50531071T>A uc003tpf.3 - 14 1387 c.1301A>T c.(1300-1302)CAC>CTC p.H434L DDC_uc010kza.2_Missense_Mutation_p.H349L|DDC_uc003tpg.3_Missense_Mutation_p.H434L NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 434 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding 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) TGGAACCAAGTGGATTTTTTT 0.502 18 55 --- --- --- --- PASS VSTM2A 222008 broad.mit.edu 37 7 54636708 54636708 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:54636708G>T uc010kzf.2 + 5 1046 c.641G>T c.(640-642)AGG>ATG p.R214M VSTM2A_uc003tqc.3_Intron|uc003tqd.2_5'Flank NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2 214 extracellular region 0 STAD - Stomach adenocarcinoma(5;0.0525) GCAGGTGCGAGGATAGCTACA 0.368 3 8 --- --- --- --- PASS SEPT14 346288 broad.mit.edu 37 7 55910723 55910723 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:55910723C>A uc003tqz.2 - 5 587 c.470G>T c.(469-471)CGC>CTC p.R157L NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 157 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CACGTGGACGCGAGAATCATG 0.398 11 12 --- --- --- --- PASS HGF 3082 broad.mit.edu 37 7 81331912 81331912 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:81331912C>A uc003uhl.2 - 18 2337 c.2172G>T c.(2170-2172)AAG>AAT p.K724N HGF_uc003uhm.2_Missense_Mutation_p.K719N NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 724 epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 ACTGTGGTACCTTATATGTTA 0.368 39 55 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94039044 94039044 + Missense_Mutation SNP G T T rs72656392 TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:94039044G>T uc003ung.1 + 19 1417 c.946G>T c.(946-948)GGC>TGC p.G316C COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 316 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGGCCTTCCCGGCGTTGCTGG 0.567 HNSCC(75;0.22) 51 68 --- --- --- --- PASS C7orf43 55262 broad.mit.edu 37 7 99754531 99754531 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:99754531C>T uc003utr.2 - 6 1110 c.930G>A c.(928-930)CTG>CTA p.L310L C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.L78L|C7orf43_uc003uts.2_Silent_p.L41L NM_018275 NP_060745 Q8WVR3 CG043_HUMAN hypothetical protein LOC55262 310 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGTGTTCCTCCAGGGCATTCA 0.592 29 159 --- --- --- --- PASS ARMC10 83787 broad.mit.edu 37 7 102738950 102738950 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:102738950C>A uc003vaw.1 + 7 1374 c.982C>A c.(982-984)CAT>AAT p.H328N ARMC10_uc003vay.1_Missense_Mutation_p.H269N|ARMC10_uc003vax.1_Missense_Mutation_p.H293N|ARMC10_uc003vbb.1_Missense_Mutation_p.H234N|ARMC10_uc011kli.1_Missense_Mutation_p.H269N|ARMC10_uc010lis.1_Missense_Mutation_p.H210N|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Missense_Mutation_p.H206N NM_031905 NP_114111 Q8N2F6 ARM10_HUMAN SVH protein isoform a 328 regulation of growth endoplasmic reticulum membrane|integral to membrane binding ovary(1) 1 AGTTGATCACCATGATGCAGA 0.373 59 145 --- --- --- --- PASS ARMC10 83787 broad.mit.edu 37 7 102738951 102738951 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:102738951A>T uc003vaw.1 + 7 1375 c.983A>T c.(982-984)CAT>CTT p.H328L ARMC10_uc003vay.1_Missense_Mutation_p.H269L|ARMC10_uc003vax.1_Missense_Mutation_p.H293L|ARMC10_uc003vbb.1_Missense_Mutation_p.H234L|ARMC10_uc011kli.1_Missense_Mutation_p.H269L|ARMC10_uc010lis.1_Missense_Mutation_p.H210L|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Missense_Mutation_p.H206L NM_031905 NP_114111 Q8N2F6 ARM10_HUMAN SVH protein isoform a 328 regulation of growth endoplasmic reticulum membrane|integral to membrane binding ovary(1) 1 GTTGATCACCATGATGCAGAG 0.378 59 150 --- --- --- --- PASS LAMB1 3912 broad.mit.edu 37 7 107603475 107603475 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:107603475C>A uc003vew.2 - 15 2067 c.1732G>T c.(1732-1734)GAC>TAC p.D578Y LAMB1_uc003vev.2_Missense_Mutation_p.D602Y|LAMB1_uc003vex.2_Missense_Mutation_p.D578Y|LAMB1_uc010ljn.1_Missense_Mutation_p.D664Y NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 578 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAATCCGGTCCTGGATATAT 0.448 66 116 --- --- --- --- PASS PAX4 5078 broad.mit.edu 37 7 127254600 127254600 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:127254600G>A uc010lld.1 - 3 554 c.348C>T c.(346-348)ATC>ATT p.I116I PAX4_uc003vmf.2_Silent_p.I114I|PAX4_uc003vmg.1_Silent_p.I116I|PAX4_uc003vmh.2_Silent_p.I114I NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 124 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGACTCGGTTGATGGAGGAGA 0.562 11 4 --- --- --- --- PASS FAM40B 57464 broad.mit.edu 37 7 129094344 129094344 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:129094344C>T uc011koy.1 + 7 722 c.682C>T c.(682-684)CGG>TGG p.R228W FAM40B_uc003vow.2_Missense_Mutation_p.R228W NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 228 0 GAGAACAGCCCGGGAGACCTT 0.532 26 128 --- --- --- --- PASS PODXL 5420 broad.mit.edu 37 7 131195746 131195746 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:131195746G>A uc003vqw.3 - 2 805 c.547C>T c.(547-549)CCT>TCT p.P183S PODXL_uc003vqx.3_Missense_Mutation_p.P183S NM_001018111 NP_001018121 O00592 PODXL_HUMAN podocalyxin-like isoform 1 precursor 183 Thr-rich.|Extracellular (Potential). cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle breast(2)|pancreas(1) 3 Melanoma(18;0.162) GGACTTGTAGGGTGAGGGGTC 0.522 65 294 --- --- --- --- PASS JHDM1D 80853 broad.mit.edu 37 7 139826529 139826529 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:139826529C>T uc003vvm.2 - 6 800 c.796G>A c.(796-798)GTT>ATT p.V266I NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 266 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) TATTTCTGAACAAATGGCTTG 0.418 106 213 --- --- --- --- PASS TRPV5 56302 broad.mit.edu 37 7 142605694 142605694 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:142605694C>T uc003wby.1 - 15 2440 c.2176G>A c.(2176-2178)GTC>ATC p.V726I NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 726 Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) AAATGGTAGACCTCCTCTCCA 0.547 79 138 --- --- --- --- PASS KEL 3792 broad.mit.edu 37 7 142654955 142654955 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr7:142654955G>T uc003wcb.2 - 6 841 c.631C>A c.(631-633)CTA>ATA p.L211I NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 211 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) TGAGGTCCTAGGTAGGCTCTG 0.522 83 77 --- --- --- --- PASS ERICH1 157697 broad.mit.edu 37 8 623391 623391 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:623391C>A uc003wph.2 - 4 1026 c.961G>T c.(961-963)GAC>TAC p.D321Y ERICH1_uc011kwh.1_Missense_Mutation_p.D321Y|ERICH1_uc003wpe.1_Missense_Mutation_p.D227Y|ERICH1_uc003wpi.2_Missense_Mutation_p.D133Y NM_207332 NP_997215 Q86X53 ERIC1_HUMAN glutamate-rich 1 321 Glu-rich. large_intestine(2) 2 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TCTGCACCGTCCTCCTCCCCG 0.517 96 52 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3008929 3008929 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:3008929G>T uc011kwk.1 - 40 6414 c.6024C>A c.(6022-6024)CCC>CCA p.P2008P CSMD1_uc011kwj.1_Silent_p.P1400P|CSMD1_uc003wqe.2_Silent_p.P1164P|CSMD1_uc010lrg.2_Silent_p.P76P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2008 Extracellular (Potential).|CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CATAGCCGATGGGTAATGAGA 0.443 22 12 --- --- --- --- PASS C8orf80 389643 broad.mit.edu 37 8 27918117 27918117 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:27918117G>C uc003xgm.3 - 8 1066 c.923C>G c.(922-924)ACC>AGC p.T308S NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 308 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) CTTGTCAATGGTCTGCAAAAC 0.532 OREG0018675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 10 --- --- --- --- PASS DKK4 27121 broad.mit.edu 37 8 42233278 42233278 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:42233278G>T uc003xpb.2 - 2 293 c.182C>A c.(181-183)CCG>CAG p.P61Q NM_014420 NP_055235 Q9UBT3 DKK4_HUMAN dickkopf homolog 4 precursor 61 DKK-type Cys-1. multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region ovary(1) 1 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024) AGCACAGAACGGCTTCTCATC 0.572 67 53 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52321974 52321974 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:52321974A>T uc003xqu.3 - 17 2311 c.2210T>A c.(2209-2211)CTG>CAG p.L737Q PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 737 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGGCTGCTGCAGGTTGTTGCA 0.687 6 57 --- --- --- --- PASS TRIM55 84675 broad.mit.edu 37 8 67040550 67040550 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:67040550G>A uc003xvv.2 + 2 406 c.180G>A c.(178-180)CCG>CCA p.P60P TRIM55_uc003xvu.2_Silent_p.P60P|TRIM55_uc003xvw.2_Silent_p.P60P|TRIM55_uc003xvx.2_Silent_p.P60P NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 60 RING-type. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CCTCTAACCCGTATTTGCCCA 0.473 79 367 --- --- --- --- PASS C8orf45 157777 broad.mit.edu 37 8 67791064 67791064 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:67791064G>C uc003xwz.3 + 7 790 c.619G>C c.(619-621)GAA>CAA p.E207Q C8orf45_uc003xwv.2_Missense_Mutation_p.E207Q|C8orf45_uc011lev.1_Missense_Mutation_p.E207Q|C8orf45_uc011lew.1_Missense_Mutation_p.E138Q|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.E207Q NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 207 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) ACAAATAGTTGAAATAATTGC 0.269 10 186 --- --- --- --- PASS XKR9 389668 broad.mit.edu 37 8 71646107 71646107 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:71646107G>C uc003xyq.2 + 5 1104 c.570G>C c.(568-570)TTG>TTC p.L190F XKR9_uc010lze.2_Missense_Mutation_p.L190F|XKR9_uc010lzd.2_Missense_Mutation_p.L58F NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related 190 integral to membrane ovary(1)|skin(1) 2 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GAAAATCCTTGCCTGACAAAA 0.338 30 177 --- --- --- --- PASS EYA1 2138 broad.mit.edu 37 8 72128977 72128977 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:72128977C>G uc003xys.3 - 13 1597 c.1310G>C c.(1309-1311)CGC>CCC p.R437P EYA1_uc003xyr.3_Missense_Mutation_p.R402P|EYA1_uc003xyt.3_Missense_Mutation_p.R404P|EYA1_uc010lzf.2_Missense_Mutation_p.R364P|EYA1_uc003xyu.2_Missense_Mutation_p.R437P|EYA1_uc011lfe.1_Missense_Mutation_p.R431P|EYA1_uc003xyv.2_Missense_Mutation_p.R315P NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 437 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CCGTCTGTAGCGGAAGGCCAA 0.468 85 371 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77617652 77617652 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:77617652C>T uc003yav.2 + 2 1716 c.1329C>T c.(1327-1329)AAC>AAT p.N443N ZFHX4_uc003yat.1_Silent_p.N443N|ZFHX4_uc003yau.1_Silent_p.N443N|ZFHX4_uc003yaw.1_Silent_p.N443N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 443 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACCAAGAGAACAACTGTGAAA 0.483 HNSCC(33;0.089) 10 65 --- --- --- --- PASS CDH17 1015 broad.mit.edu 37 8 95178149 95178149 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:95178149G>T uc003ygh.2 - 10 1247 c.1122C>A c.(1120-1122)AAC>AAA p.N374K CDH17_uc011lgo.1_Missense_Mutation_p.N160K|CDH17_uc011lgp.1_Missense_Mutation_p.N374K NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 374 Extracellular (Potential).|Cadherin 4. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTAGAAAACTGTTGGCAGTAT 0.438 21 169 --- --- --- --- PASS KCNS2 3788 broad.mit.edu 37 8 99440455 99440455 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:99440455A>G uc003yin.2 + 2 598 c.248A>G c.(247-249)CAT>CGT p.H83R NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 83 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TACGTGCTGCATTTCTATCAC 0.557 37 331 --- --- --- --- PASS RGS22 26166 broad.mit.edu 37 8 101092427 101092427 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:101092427C>A uc003yjb.1 - 4 469 c.274G>T c.(274-276)GTT>TTT p.V92F RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.V92F|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 92 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ACAGGTTTAACCTCATTCTTT 0.338 44 415 --- --- --- --- PASS ANKRD46 157567 broad.mit.edu 37 8 101541821 101541821 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:101541821C>T uc003yjm.2 - 3 445 c.241G>A c.(241-243)GCT>ACT p.A81T ANKRD46_uc003yjn.1_Missense_Mutation_p.A81T|ANKRD46_uc003yjo.1_Missense_Mutation_p.A81T|ANKRD46_uc003yjp.1_Missense_Mutation_p.A81T NM_198401 NP_940683 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 81 ANK 3. integral to membrane 0 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) AGGTGAAGAGCTGTGTTTCCT 0.433 22 240 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104898440 104898440 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:104898440T>C uc003yls.2 + 2 1188 c.947T>C c.(946-948)GTA>GCA p.V316A RIMS2_uc003ylp.2_Missense_Mutation_p.V538A|RIMS2_uc003ylw.2_Missense_Mutation_p.V346A|RIMS2_uc003ylq.2_Missense_Mutation_p.V346A|RIMS2_uc003ylr.2_Missense_Mutation_p.V346A NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 569 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGTGAGAGTGTAAGTGAAAAA 0.348 HNSCC(12;0.0054) 14 158 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106815488 106815488 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:106815488C>A uc003ymd.2 + 8 3201 c.3178C>A c.(3178-3180)CAA>AAA p.Q1060K ZFPM2_uc011lhs.1_Missense_Mutation_p.Q791K NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 1060 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAACCCACAGCAAGAGAACAT 0.478 39 72 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110451189 110451189 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:110451189T>C uc003yne.2 + 32 3928 c.3824T>C c.(3823-3825)GTG>GCG p.V1275A NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1275 Extracellular (Potential).|IPT/TIG 6. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AACATGGCGGTGTATGTTGGA 0.333 HNSCC(38;0.096) 18 186 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110539082 110539082 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:110539082T>C uc003yne.2 + 77 12658 c.12554T>C c.(12553-12555)CTG>CCG p.L4185P NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 4185 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTCAGCCTGCTGGCAGAGTCT 0.308 HNSCC(38;0.096) 4 20 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113299427 113299427 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:113299427G>T uc003ynu.2 - 58 9356 c.9197C>A c.(9196-9198)TCT>TAT p.S3066Y CSMD3_uc003yns.2_Missense_Mutation_p.S2268Y|CSMD3_uc003ynt.2_Missense_Mutation_p.S3026Y|CSMD3_uc011lhx.1_Missense_Mutation_p.S2897Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3066 Extracellular (Potential).|Sushi 22. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTCCTGTCTAGAGCCATGGCC 0.413 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 30 273 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113314025 113314025 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:113314025G>T uc003ynu.2 - 53 8596 c.8437C>A c.(8437-8439)CTA>ATA p.L2813I CSMD3_uc003yns.2_Missense_Mutation_p.L2015I|CSMD3_uc003ynt.2_Missense_Mutation_p.L2773I|CSMD3_uc011lhx.1_Missense_Mutation_p.L2644I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2813 Extracellular (Potential).|Sushi 17. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCTGTACCTAGGCATCTGGTT 0.418 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 176 --- --- --- --- PASS SLC30A8 169026 broad.mit.edu 37 8 118165221 118165221 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:118165221G>A uc003yoh.2 + 3 540 c.310G>A c.(310-312)GCT>ACT p.A104T SLC30A8_uc010mcz.2_Missense_Mutation_p.A55T|SLC30A8_uc011lia.1_Missense_Mutation_p.A55T|SLC30A8_uc003yog.2_Missense_Mutation_p.A55T NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 104 Helical; (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TGTCACAGATGCTGCCCACCT 0.493 22 291 --- --- --- --- PASS MAL2 114569 broad.mit.edu 37 8 120233905 120233905 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:120233905G>T uc003yop.2 + 3 313 c.211G>T c.(211-213)GTG>TTG p.V71L NM_052886 NP_443118 Q969L2 MAL2_HUMAN MAL2 proteolipid protein 71 MARVEL.|Helical; (Potential). apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding 0 all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000967) GGTCATGTTTGTGTCCGTGAC 0.478 98 719 --- --- --- --- PASS ANXA13 312 broad.mit.edu 37 8 124714890 124714890 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:124714890A>G uc003yqu.2 - 3 251 c.178T>C c.(178-180)TAC>CAC p.Y60H ANXA13_uc003yqt.2_Missense_Mutation_p.Y101H NM_004306 NP_004297 P27216 ANX13_HUMAN annexin A13 isoform a 60 Annexin 1. cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) ACCTTGCCGTACGTTGCCTTG 0.512 20 321 --- --- --- --- PASS ST3GAL1 6482 broad.mit.edu 37 8 134488264 134488264 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:134488264C>T uc003yuk.2 - 5 833 c.4G>A c.(4-6)GTG>ATG p.V2M ST3GAL1_uc003yum.2_Missense_Mutation_p.V2M NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 Cytoplasmic (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CGCAGGGTCACCATCTTCGCA 0.547 19 154 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143545865 143545865 + Nonsense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:143545865C>A uc003ywm.2 + 1 489 c.306C>A c.(304-306)TAC>TAA p.Y102* NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 102 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGCGCACCTACCAGTTCGACT 0.701 12 4 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144991188 144991188 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:144991188C>A uc003zaf.1 - 32 13382 c.13212G>T c.(13210-13212)CTG>CTT p.L4404L PLEC_uc003zab.1_Silent_p.L4267L|PLEC_uc003zac.1_Silent_p.L4271L|PLEC_uc003zad.2_Silent_p.L4267L|PLEC_uc003zae.1_Silent_p.L4235L|PLEC_uc003zag.1_Silent_p.L4245L|PLEC_uc003zah.2_Silent_p.L4253L|PLEC_uc003zaj.2_Silent_p.L4294L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4404 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ACCAGGAGGCCAGCTGGGTCC 0.672 23 84 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144995483 144995483 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:144995483C>T uc003zaf.1 - 32 9087 c.8917G>A c.(8917-8919)GAC>AAC p.D2973N PLEC_uc003zab.1_Missense_Mutation_p.D2836N|PLEC_uc003zac.1_Missense_Mutation_p.D2840N|PLEC_uc003zad.2_Missense_Mutation_p.D2836N|PLEC_uc003zae.1_Missense_Mutation_p.D2804N|PLEC_uc003zag.1_Missense_Mutation_p.D2814N|PLEC_uc003zah.2_Missense_Mutation_p.D2822N|PLEC_uc003zaj.2_Missense_Mutation_p.D2863N NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2973 Plectin 4.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ATCTCCTCGTCGAAGTAGCCG 0.667 15 134 --- --- --- --- PASS SPATC1 375686 broad.mit.edu 37 8 145101592 145101592 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:145101592A>G uc011lkw.1 + 5 1613 c.1511A>G c.(1510-1512)TAT>TGT p.Y504C SPATC1_uc011lkx.1_3'UTR NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 504 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACACAGCGCTATGTGAGCGTC 0.622 24 96 --- --- --- --- PASS KCNV2 169522 broad.mit.edu 37 9 2718879 2718879 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:2718879C>A uc003zho.1 + 1 1354 c.1140C>A c.(1138-1140)CGC>CGA p.R380R NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 380 Helical; Voltage-sensor; Name=Segment S4; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(50;0.0257) GCGTCATGCGCCTCATGCGCA 0.672 28 41 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14746970 14746970 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:14746970A>G uc003zlm.2 - 34 6679 c.6089T>C c.(6088-6090)CTG>CCG p.L2030P FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.L566P NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 2030 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GCACTGATACAGCTTCTGGAT 0.493 6 34 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14846058 14846058 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:14846058G>T uc003zlm.2 - 8 1883 c.1293C>A c.(1291-1293)GCC>GCA p.A431A FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 431 CSPG 2. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) CCCAAGTGATGGCTCGAGACT 0.418 5 14 --- --- --- --- PASS TEK 7010 broad.mit.edu 37 9 27213551 27213551 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:27213551T>A uc003zqi.3 + 18 3389 c.2947T>A c.(2947-2949)TTT>ATT p.F983I TEK_uc011lno.1_Missense_Mutation_p.F940I|TEK_uc011lnp.1_Missense_Mutation_p.F835I NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 983 Protein kinase.|Cytoplasmic (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) AATAGCAGATTTTGGATTGTC 0.413 20 881 --- --- --- --- PASS C9orf131 138724 broad.mit.edu 37 9 35043619 35043619 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:35043619G>C uc003zvw.2 + 2 1022 c.993G>C c.(991-993)AAG>AAC p.K331N C9orf131_uc003zvu.2_Missense_Mutation_p.K283N|C9orf131_uc003zvv.2_Missense_Mutation_p.K258N|C9orf131_uc003zvx.2_Missense_Mutation_p.K296N NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 331 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) GACACAAAAAGATGCCCCAAG 0.527 91 730 --- --- --- --- PASS OR13J1 392309 broad.mit.edu 37 9 35870133 35870133 + Missense_Mutation SNP C T T rs140653664 byFrequency TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:35870133C>T uc011lph.1 - 1 266 c.266G>A c.(265-267)CGG>CAG p.R89Q NM_001004487 NP_001004487 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) GATGGTCTTCCGGGATGACAG 0.597 25 51 --- --- --- --- PASS GRHPR 9380 broad.mit.edu 37 9 37436733 37436733 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:37436733T>A uc003zzu.1 + 9 982 c.941T>A c.(940-942)CTG>CAG p.L314Q GRHPR_uc003zzt.1_Missense_Mutation_p.L234Q|GRHPR_uc003zzw.1_Missense_Mutation_p.L171Q NM_012203 NP_036335 Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 314 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding 0 GBM - Glioblastoma multiforme(29;0.00687) AACAACTTGCTGGCTGGCCTG 0.557 64 134 --- --- --- --- PASS TMC1 117531 broad.mit.edu 37 9 75407227 75407227 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:75407227G>A uc004aiz.1 + 17 2065 c.1525G>A c.(1525-1527)GAT>AAT p.D509N TMC1_uc010moz.1_Missense_Mutation_p.D467N|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.D363N|TMC1_uc010mpa.1_Missense_Mutation_p.D363N NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 509 Cytoplasmic (Potential). sensory perception of sound integral to membrane ovary(1) 1 TCACCCTGCAGATGTACCTCG 0.428 95 198 --- --- --- --- PASS HEMGN 55363 broad.mit.edu 37 9 100693291 100693291 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:100693291G>C uc004axy.2 - 3 494 c.386C>G c.(385-387)CCT>CGT p.P129R HEMGN_uc004axz.2_Missense_Mutation_p.P129R NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 129 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) GTGTTCCTCAGGCACAACTTT 0.393 59 165 --- --- --- --- PASS SMC2 10592 broad.mit.edu 37 9 106889588 106889588 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:106889588G>A uc004bbv.2 + 20 2905 c.2617G>A c.(2617-2619)GAA>AAA p.E873K SMC2_uc004bbw.2_Missense_Mutation_p.E873K|SMC2_uc011lvl.1_Missense_Mutation_p.E873K|SMC2_uc004bbx.2_Missense_Mutation_p.E873K|SMC2_uc004bby.2_RNA NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 873 Potential. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 TAAAGCTCAAGAAGAGGTGAC 0.318 24 78 --- --- --- --- PASS OR13F1 138805 broad.mit.edu 37 9 107267220 107267220 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:107267220T>A uc011lvm.1 + 1 677 c.677T>A c.(676-678)CTG>CAG p.L226Q NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GCCAGTATCCTGAGAATCAGC 0.478 71 220 --- --- --- --- PASS CTNNAL1 8727 broad.mit.edu 37 9 111732694 111732694 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:111732694C>A uc004bdo.1 - 10 1470 c.1428G>T c.(1426-1428)GTG>GTT p.V476V CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc010mtt.1_Silent_p.V476V|CTNNAL1_uc004bdp.1_Silent_p.V476V|CTNNAL1_uc004bdq.1_5'UTR NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 476 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) GTTGGCCAGTCACCTGAAATG 0.403 16 35 --- --- --- --- PASS AKNA 80709 broad.mit.edu 37 9 117120444 117120444 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:117120444C>A uc004biq.3 - 11 2631 c.2496G>T c.(2494-2496)GAG>GAT p.E832D AKNA_uc004bin.3_Missense_Mutation_p.E79D|AKNA_uc004bio.3_Missense_Mutation_p.E292D|AKNA_uc004bip.3_Missense_Mutation_p.E751D|AKNA_uc004bir.3_Missense_Mutation_p.E832D|AKNA_uc004bis.3_Missense_Mutation_p.E832D|AKNA_uc010mve.2_Missense_Mutation_p.E713D NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 832 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 TCTCCGTGGCCTCCCTGGCAT 0.587 18 41 --- --- --- --- PASS OR1J4 26219 broad.mit.edu 37 9 125281568 125281568 + Missense_Mutation SNP G T T rs146642294 TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:125281568G>T uc011lyw.1 + 1 149 c.149G>T c.(148-150)CGG>CTG p.R50L NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGCTCATCCGGCTGGACTCT 0.537 122 237 --- --- --- --- PASS OR1L8 138881 broad.mit.edu 37 9 125330162 125330162 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:125330162C>A uc004bmp.1 - 1 595 c.595G>T c.(595-597)GTG>TTG p.V199L NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 GTCATCTGCACAATTTCATTG 0.428 18 22 --- --- --- --- PASS DENND1A 57706 broad.mit.edu 37 9 126392755 126392755 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:126392755G>A uc004bnz.1 - 10 852 c.619C>T c.(619-621)CTG>TTG p.L207L DENND1A_uc011lzl.1_Silent_p.L24L|DENND1A_uc004bny.1_Silent_p.L24L|DENND1A_uc011lzm.1_Silent_p.L175L|DENND1A_uc004boa.1_Silent_p.L207L|DENND1A_uc004bob.1_Silent_p.L177L|DENND1A_uc004boc.2_Silent_p.L175L NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 207 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 CAGGCAGTCAGCTGGAACAGA 0.507 4 1 --- --- --- --- PASS DENND1A 57706 broad.mit.edu 37 9 126520021 126520021 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:126520021C>T uc004bnz.1 - 5 496 c.263G>A c.(262-264)CGC>CAC p.R88H DENND1A_uc004bny.1_5'UTR|DENND1A_uc011lzm.1_Missense_Mutation_p.R56H|DENND1A_uc004boa.1_Missense_Mutation_p.R88H|DENND1A_uc004bob.1_Missense_Mutation_p.R58H|DENND1A_uc004boc.2_Missense_Mutation_p.R56H NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 88 UDENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 TGAAGATAAGCGGCAGAACCC 0.493 24 60 --- --- --- --- PASS LHX2 9355 broad.mit.edu 37 9 126794783 126794783 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:126794783G>A uc004boe.1 + 5 1757 c.1018G>A c.(1018-1020)GCG>ACG p.A340T LHX2_uc010mwi.1_Missense_Mutation_p.A348T NM_004789 NP_004780 P50458 LHX2_HUMAN LIM homeobox protein 2 340 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GACAGACGCGGCGCTGCAGAC 0.667 25 32 --- --- --- --- PASS ST6GALNAC4 27090 broad.mit.edu 37 9 130672250 130672250 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:130672250C>A uc004bss.2 - 5 975 c.699G>T c.(697-699)ATG>ATT p.M233I ST6GALNAC4_uc004bst.2_Missense_Mutation_p.M149I NM_175039 NP_778204 Q9H4F1 SIA7D_HUMAN sialyltransferase 7D isoform a 233 Lumenal (Potential). glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity 0 TGTCGCTGACCATCCCATAGA 0.652 22 13 --- --- --- --- PASS C9orf78 51759 broad.mit.edu 37 9 132595737 132595737 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:132595737C>A uc004byp.2 - 4 327 c.255G>T c.(253-255)AGG>AGT p.R85S C9orf78_uc004byo.2_Missense_Mutation_p.R10S|C9orf78_uc004byq.1_Missense_Mutation_p.R31S|USP20_uc004bys.2_5'Flank|USP20_uc004byr.2_5'Flank|USP20_uc004byt.1_5'Flank NM_016520 NP_057604 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 85 0 Ovarian(14;0.00556) TATCTTTGCCCCTTTCCTTCA 0.468 48 67 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135204637 135204637 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:135204637T>A uc004cbk.2 - 10 2531 c.2348A>T c.(2347-2349)CAG>CTG p.Q783L SETX_uc004cbj.2_Missense_Mutation_p.Q402L|SETX_uc010mzt.2_Missense_Mutation_p.Q402L NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 783 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TTCATCTTTCTGTACCTTAGT 0.338 37 67 --- --- --- --- PASS KCNT1 57582 broad.mit.edu 37 9 138645808 138645808 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr9:138645808T>C uc011mdq.1 + 5 534 c.460T>C c.(460-462)TCC>CCC p.S154P KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Missense_Mutation_p.S106P|KCNT1_uc004cgo.1_5'UTR NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 154 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GCAGAACTACTCCTTCAATGA 0.632 20 36 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16916418 16916418 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:16916418C>T uc001ioo.2 - 58 9243 c.9191G>A c.(9190-9192)TGT>TAT p.C3064Y CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.C420Y NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3064 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGTATACAGACAGTGCATATC 0.408 92 94 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18289742 18289742 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:18289742C>A uc001ipo.2 + 11 2020 c.1747C>A c.(1747-1749)CCA>ACA p.P583T SLC39A12_uc001ipn.2_Missense_Mutation_p.P546T|SLC39A12_uc001ipp.2_Missense_Mutation_p.P582T|SLC39A12_uc010qck.1_Missense_Mutation_p.P449T NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 583 XEXPHE-motif.|Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TCATGAAATCCCACATGAAAT 0.413 20 54 --- --- --- --- PASS SPAG6 9576 broad.mit.edu 37 10 22634681 22634681 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:22634681C>G uc001iri.2 + 2 197 c.55C>G c.(55-57)CAG>GAG p.Q19E SPAG6_uc001irj.2_Missense_Mutation_p.Q19E|SPAG6_uc010qct.1_5'UTR|SPAG6_uc009xkh.2_5'UTR NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 19 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 GGCCAGGACCCAGTTCGTGCA 0.672 6 10 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26359100 26359100 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:26359100G>C uc001isn.2 + 13 1591 c.1231G>C c.(1231-1233)GCT>CCT p.A411P MYO3A_uc009xko.1_Missense_Mutation_p.A411P|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.A411P NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 411 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 TTTTGCAATGGCTGACTTAGG 0.328 47 46 --- --- --- --- PASS PTCHD3 374308 broad.mit.edu 37 10 27702174 27702174 + Missense_Mutation SNP C A A rs143991061 byFrequency TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:27702174C>A uc001itu.2 - 1 1124 c.1006G>T c.(1006-1008)GAC>TAC p.D336Y NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 336 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CTCTGCACGTCGTACTCAGGG 0.527 71 216 --- --- --- --- PASS ARMC4 55130 broad.mit.edu 37 10 28233220 28233220 + Silent SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:28233220A>G uc009xky.2 - 12 1772 c.1674T>C c.(1672-1674)ACT>ACC p.T558T ARMC4_uc010qds.1_Silent_p.T83T|ARMC4_uc010qdt.1_Silent_p.T250T|ARMC4_uc001itz.2_Silent_p.T558T|ARMC4_uc010qdu.1_Silent_p.T250T NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 558 ARM 2. binding ovary(4)|skin(2) 6 CATTCGCGATAGTCTCGGCTG 0.468 13 34 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38344866 38344866 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:38344866G>T uc001izh.2 + 5 1989 c.1811G>T c.(1810-1812)GGG>GTG p.G604V ZNF33A_uc001izg.2_Missense_Mutation_p.G605V|ZNF33A_uc010qev.1_Missense_Mutation_p.G611V|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 604 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 ACACATACAGGGGAGAAACCC 0.373 64 64 --- --- --- --- PASS ARHGAP22 58504 broad.mit.edu 37 10 49791061 49791061 + Silent SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:49791061G>C uc001jgt.2 - 2 468 c.171C>G c.(169-171)CGC>CGG p.R57R ARHGAP22_uc001jgu.2_Silent_p.R57R|ARHGAP22_uc010qgl.1_Silent_p.R57R|ARHGAP22_uc010qgm.1_Silent_p.R63R|ARHGAP22_uc001jgv.2_5'UTR NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 2 57 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity ovary(1) 1 GCACAAACCAGCGCTGCTGCC 0.607 48 151 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50835662 50835662 + Silent SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:50835662C>G uc001jhz.2 + 7 1095 c.942C>G c.(940-942)GTC>GTG p.V314V CHAT_uc001jhv.1_Silent_p.V196V|CHAT_uc001jhx.1_Silent_p.V196V|CHAT_uc001jhy.1_Silent_p.V196V|CHAT_uc001jia.2_Silent_p.V196V|CHAT_uc010qgs.1_Silent_p.V196V NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 314 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) AGTTCTTTGTCTTGGATGTTG 0.512 56 147 --- --- --- --- PASS RHOBTB1 9886 broad.mit.edu 37 10 62648482 62648482 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:62648482T>A uc001jli.2 - 7 1382 c.944A>T c.(943-945)AAG>ATG p.K315M RHOBTB1_uc001jlh.2_Missense_Mutation_p.K315M|RHOBTB1_uc001jlj.2_Missense_Mutation_p.K315M|RHOBTB1_uc001jlk.2_Missense_Mutation_p.K315M|RHOBTB1_uc009xpe.1_Missense_Mutation_p.K253M|RHOBTB1_uc001jll.2_Missense_Mutation_p.K65M NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 315 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) TCTGCTCTGCTTCTCTTTCTC 0.493 35 143 --- --- --- --- PASS ZCCHC24 219654 broad.mit.edu 37 10 81154191 81154191 + Silent SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:81154191G>C uc001kak.2 - 3 640 c.453C>G c.(451-453)CGC>CGG p.R151R ZCCHC24_uc010qlr.1_Missense_Mutation_p.P92A|ZCCHC24_uc009xrw.2_RNA NM_153367 NP_699198 Q8N2G6 ZCH24_HUMAN zinc finger, CCHC domain containing 24 151 nucleic acid binding|zinc ion binding breast(1) 1 CGCCTTTGGGGCGTGCCTACA 0.582 15 100 --- --- --- --- PASS WAPAL 23063 broad.mit.edu 37 10 88227065 88227065 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:88227065T>C uc001kdo.2 - 9 2783 c.2341A>G c.(2341-2343)AAC>GAC p.N781D WAPAL_uc009xsv.2_Missense_Mutation_p.N95D|WAPAL_uc001kdn.2_Missense_Mutation_p.N818D|WAPAL_uc009xsw.2_Missense_Mutation_p.N775D NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 781 Potential.|WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 AGATGCTTGTTGTGTACAGTT 0.358 32 70 --- --- --- --- PASS PI4K2A 55361 broad.mit.edu 37 10 99361612 99361612 + Splice_Site SNP A C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:99361612A>C uc010qoy.1 + 2 571 c.212_splice c.e2-2 p.G71_splice DHDPSL_uc001kny.2_Splice_Site_p.G234_splice|DHDPSL_uc001knz.2_Splice_Site_p.G71_splice NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding lung(1)|skin(1) 2 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) TACTTCGTGCAGGAGCTGTGG 0.627 5 23 --- --- --- --- PASS HPS1 3257 broad.mit.edu 37 10 100195396 100195396 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:100195396T>A uc010qpf.1 - 4 497 c.251A>T c.(250-252)CAC>CTC p.H84L HPS1_uc001kpi.1_Missense_Mutation_p.H84L|HPS1_uc001kpj.1_Missense_Mutation_p.H24L|HPS1_uc001kpk.1_Missense_Mutation_p.H84L|HPS1_uc009xwb.2_RNA|HPS1_uc010qph.1_Missense_Mutation_p.H84L|HPS1_uc001kpl.2_Missense_Mutation_p.H84L NM_000195 NP_000186 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 protein isoform a 84 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity skin(1) 1 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) ACTCACCAGGTGAAGGACATA 0.522 Hermansky-Pudlak_syndrome 39 95 --- --- --- --- PASS DNMBP 23268 broad.mit.edu 37 10 101715737 101715737 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:101715737C>A uc001kqj.2 - 4 1586 c.1494G>T c.(1492-1494)CAG>CAT p.Q498H NCRNA00093_uc001kqk.1_Intron NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 498 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GGTTGTGGAGCTGAGGACTTG 0.488 61 116 --- --- --- --- PASS MGEA5 10724 broad.mit.edu 37 10 103559213 103559213 + Splice_Site SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:103559213C>T uc001ktv.2 - 9 1639 c.1196_splice c.e9-1 p.S399_splice MGEA5_uc001ktu.2_Splice_Site|MGEA5_uc010qqe.1_Splice_Site_p.S346_splice|MGEA5_uc009xws.2_Splice_Site_p.S346_splice|MGEA5_uc001ktw.2_Splice_Site_p.S399_splice|MGEA5_uc009xwt.2_Intron NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) ACTTGCCTACCTACAAAAATA 0.348 39 69 --- --- --- --- PASS PPRC1 23082 broad.mit.edu 37 10 103909051 103909051 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:103909051G>T uc001kum.2 + 13 4895 c.4856G>T c.(4855-4857)CGA>CTA p.R1619L PPRC1_uc001kun.2_Missense_Mutation_p.R1497L|PPRC1_uc010qqj.1_Missense_Mutation_p.R1355L|PPRC1_uc009xxa.2_RNA|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1619 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TTTGGGGGCCGAAGGCAGTTC 0.552 17 43 --- --- --- --- PASS ABLIM1 3983 broad.mit.edu 37 10 116331078 116331078 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:116331078C>A uc010qsg.1 - 4 750 c.651G>T c.(649-651)CCG>CCT p.P217P ABLIM1_uc010qsh.1_Silent_p.P157P|ABLIM1_uc010qsi.1_Silent_p.P157P|ABLIM1_uc010qsk.1_Silent_p.P141P|ABLIM1_uc009xyp.2_Silent_p.P151P|ABLIM1_uc009xyo.2_Silent_p.P65P NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 217 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TGGTTTCTTTCGGACTGGACG 0.552 3 43 --- --- --- --- PASS C10orf46 143384 broad.mit.edu 37 10 120460919 120460919 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:120460919T>C uc001lds.1 - 5 1179 c.695A>G c.(694-696)AAT>AGT p.N232S C10orf46_uc010qst.1_RNA NM_153810 NP_722517 Q86Y37 CJ046_HUMAN chromosome 10 open reading frame 46 232 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding 0 Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0131) GTAAAACTTATTCTGAAAAAT 0.299 19 46 --- --- --- --- PASS HTRA1 5654 broad.mit.edu 37 10 124271486 124271486 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:124271486C>A uc001lgj.2 + 8 1307 c.1179C>A c.(1177-1179)AGC>AGA p.S393R NM_002775 NP_002766 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 precursor 393 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity 0 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) TCTGGAGCAGCAAAGCCAAAG 0.512 23 53 --- --- --- --- PASS C10orf90 118611 broad.mit.edu 37 10 128153489 128153489 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:128153489G>T uc001ljq.2 - 4 1431 c.1310C>A c.(1309-1311)GCT>GAT p.A437D C10orf90_uc001ljp.2_Intron|C10orf90_uc010qum.1_Missense_Mutation_p.A534D|C10orf90_uc009yao.2_3'UTR|C10orf90_uc001ljo.2_5'Flank NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 437 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CACTGGAGGAGCAGACACAGT 0.453 34 61 --- --- --- --- PASS TUBGCP2 10844 broad.mit.edu 37 10 135112994 135112994 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:135112994C>A uc001lmg.1 - 4 750 c.393G>T c.(391-393)ATG>ATT p.M131I TUBGCP2_uc010qvc.1_Missense_Mutation_p.M131I|TUBGCP2_uc009ybk.1_Missense_Mutation_p.M131I|TUBGCP2_uc010qvd.1_Missense_Mutation_p.M1I|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 131 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CAAGCTCCTGCATGGAGATCT 0.597 29 28 --- --- --- --- PASS FRG2B 441581 broad.mit.edu 37 10 135440163 135440163 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr10:135440163G>T uc010qvg.1 - 1 137 c.84C>A c.(82-84)TCC>TCA p.S28S NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 28 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TTTCTGTAAAGGAGATCTGTT 0.488 9 241 --- --- --- --- PASS RASSF7 8045 broad.mit.edu 37 11 562207 562207 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:562207A>G uc001lqc.2 + 3 288 c.253A>G c.(253-255)AGG>GGG p.R85G C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_Missense_Mutation_p.R85G|RASSF7_uc001lqb.2_Missense_Mutation_p.R85G|RASSF7_uc001lqd.2_Missense_Mutation_p.R85G NM_003475 NP_003466 Q02833 RASF7_HUMAN Ras association (RalGDS/AF-6) domain family 85 Ras-associating. regulation of transcription, DNA-dependent|signal transduction nucleus DNA binding|protein binding skin(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTTTGTCCTGAGGCGCACAGG 0.657 21 38 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1016849 1016849 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:1016849C>A uc001lsw.2 - 31 6003 c.5952G>T c.(5950-5952)ATG>ATT p.M1984I NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1984 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATGTTGCAGTCATAGGACCTG 0.582 17 670 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1268797 1268797 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:1268797A>G uc009ycr.1 + 50 12397 c.12271A>G c.(12271-12273)ATA>GTA p.I4091V MUC5B_uc001ltb.2_Missense_Mutation_p.I3566V NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3563 7 X Cys-rich subdomain repeats.|Thr-rich.|HAT 2. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ATCGGCCCCCATAACCACGGT 0.687 3 48 --- --- --- --- PASS TH 7054 broad.mit.edu 37 11 2189848 2189848 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:2189848C>T uc001lvq.2 - 4 472 c.453G>A c.(451-453)AGG>AGA p.R151R TH_uc001lvp.2_Silent_p.R147R|TH_uc001lvr.2_Silent_p.R120R|TH_uc010qxj.1_Silent_p.R124R|TH_uc001lvs.2_Silent_p.R120R|TH_uc001lvt.2_Silent_p.R124R|TH_uc009ydh.1_5'Flank NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 151 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) CAGCTCGCGGCCTCTGGGCGG 0.552 14 20 --- --- --- --- PASS OR52K1 390036 broad.mit.edu 37 11 4510178 4510178 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:4510178G>T uc001lza.1 + 1 48 c.48G>T c.(46-48)TTG>TTT p.L16F NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) TCTTTTTGTTGGTAGGAATTC 0.463 96 147 --- --- --- --- PASS OR56A1 120796 broad.mit.edu 37 11 6048656 6048656 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:6048656C>G uc010qzw.1 - 1 279 c.279G>C c.(277-279)TGG>TGC p.W93C NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAAGATCATACCAGAAGATGG 0.562 41 90 --- --- --- --- PASS WEE1 7465 broad.mit.edu 37 11 9608047 9608047 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:9608047G>T uc001mhs.2 + 9 1775 c.1522G>T c.(1522-1524)GTA>TTA p.V508L WEE1_uc001mht.2_Missense_Mutation_p.V294L NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 508 Protein kinase. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) CCTCACAGTGGTATGTGCTGC 0.393 81 101 --- --- --- --- PASS SPON1 10418 broad.mit.edu 37 11 14157086 14157086 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:14157086T>A uc001mle.2 + 7 1335 c.797T>A c.(796-798)GTG>GAG p.V266E NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 266 Spondin. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) GGCTCACCCGTGAAAATGGAG 0.433 48 58 --- --- --- --- PASS MRGPRX4 117196 broad.mit.edu 37 11 18194982 18194982 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:18194982C>A uc001mnv.1 + 1 599 c.179C>A c.(178-180)GCT>GAT p.A60D NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 60 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CGCAGGAACGCTGTCTCCATC 0.547 70 73 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26463486 26463486 + Missense_Mutation SNP A C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:26463486A>C uc001mqt.3 + 2 213 c.68A>C c.(67-69)GAG>GCG p.E23A ANO3_uc010rdr.1_Missense_Mutation_p.E7A NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 23 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGCAAGAGTGAGATAACAAAA 0.388 45 153 --- --- --- --- PASS EHF 26298 broad.mit.edu 37 11 34668094 34668094 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:34668094A>T uc001mvr.1 + 3 317 c.206A>T c.(205-207)GAT>GTT p.D69V EHF_uc009yke.1_Missense_Mutation_p.D69V|EHF_uc009ykf.1_Missense_Mutation_p.D72V NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 69 PNT. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) AACCAGCTGGATGCCAATTGT 0.577 99 171 --- --- --- --- PASS SYT13 57586 broad.mit.edu 37 11 45277321 45277321 + Missense_Mutation SNP A C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:45277321A>C uc001myq.2 - 2 431 c.305T>G c.(304-306)CTG>CGG p.L102R SYT13_uc009yku.1_5'UTR NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 102 Cytoplasmic (Potential). transport vesicle ovary(1) 1 CGTAGACCTCAGTGAATAGTC 0.592 21 71 --- --- --- --- PASS CRY2 1408 broad.mit.edu 37 11 45893667 45893667 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:45893667C>G uc010rgn.1 + 11 1752 c.1730C>G c.(1729-1731)CCA>CGA p.P577R CRY2_uc009ykw.2_Missense_Mutation_p.P495R|CRY2_uc010rgo.1_Missense_Mutation_p.P299R NM_021117 NP_066940 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) isoform 1 556 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding central_nervous_system(1) 1 CCCAGTGGCCCAGCATCCCCC 0.597 21 65 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46897450 46897450 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:46897450G>A uc001ndn.3 - 26 3750 c.3604C>T c.(3604-3606)CGC>TGC p.R1202C NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1202 Extracellular (Potential).|LDL-receptor class B 13. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) AGCACCGCGCGGTCTGAGCCA 0.537 32 39 --- --- --- --- PASS AGBL2 79841 broad.mit.edu 37 11 47703571 47703571 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:47703571C>A uc001ngg.2 - 11 1965 c.1865G>T c.(1864-1866)GGA>GTA p.G622V AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.G584V|AGBL2_uc001ngh.1_Missense_Mutation_p.G566V NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 622 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 GTTTAGGATTCCCATCCGCCA 0.418 14 71 --- --- --- --- PASS NUP160 23279 broad.mit.edu 37 11 47825022 47825022 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:47825022T>A uc001ngm.2 - 22 2828 c.2743A>T c.(2743-2745)AGG>TGG p.R915W NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 915 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 AGGTAACACCTTCCCAGCATA 0.373 76 119 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135929 55135929 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:55135929T>G uc010rif.1 + 1 570 c.570T>G c.(568-570)TTT>TTG p.F190L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AATTTCTCTTTATTTATCAGC 0.423 87 304 --- --- --- --- PASS OR8H1 219469 broad.mit.edu 37 11 56058536 56058536 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:56058536C>A uc010rje.1 - 1 3 c.3G>T c.(1-3)ATG>ATT p.M1I NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) TTCTTCTACCCATGATGTTCA 0.353 62 115 --- --- --- --- PASS OR6Q1 219952 broad.mit.edu 37 11 57799186 57799186 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:57799186C>A uc010rjz.1 + 1 762 c.762C>A c.(760-762)CTC>CTA p.L254L OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) TGGTGAGCCTCTTCTATGGCA 0.522 95 153 --- --- --- --- PASS ZFP91 80829 broad.mit.edu 37 11 58377407 58377407 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:58377407G>T uc001nmx.3 + 3 643 c.475G>T c.(475-477)GTT>TTT p.V159F ZFP91_uc001nmy.3_Missense_Mutation_p.V159F|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 159 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TAGGACATCTGTTTCTCGCCA 0.498 68 86 --- --- --- --- PASS MPEG1 219972 broad.mit.edu 37 11 58979095 58979095 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:58979095C>G uc001nnu.3 - 1 1400 c.1244G>C c.(1243-1245)GGC>GCC p.G415A NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 415 Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) CGGGGAGTAGCCAGAGGGGCA 0.537 34 54 --- --- --- --- PASS OSBP 5007 broad.mit.edu 37 11 59361714 59361714 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:59361714C>A uc001noc.1 - 8 1806 c.1326G>T c.(1324-1326)GAG>GAT p.E442D OSBP_uc009ymr.1_RNA NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 442 Sterol binding (By similarity). lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TGGACAAGGGCTCATTAAAGT 0.373 31 63 --- --- --- --- PASS VWCE 220001 broad.mit.edu 37 11 61049333 61049333 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:61049333G>A uc001nra.2 - 7 991 c.712C>T c.(712-714)CAC>TAC p.H238Y VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 238 EGF-like 4; calcium-binding (Potential). extracellular region calcium ion binding ovary(1) 1 ACGGTGTTGTGGCAGGAATGG 0.622 5 38 --- --- --- --- PASS TUT1 64852 broad.mit.edu 37 11 62344195 62344195 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:62344195C>A uc001nto.2 - 8 1560 c.1522G>T c.(1522-1524)GGC>TGC p.G508C EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_5'UTR NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 470 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 CAGTCCCAGCCATCGACTTCC 0.527 37 72 --- --- --- --- PASS EML3 256364 broad.mit.edu 37 11 62373335 62373335 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:62373335C>T uc001ntu.1 - 14 2082 c.1774G>A c.(1774-1776)GTA>ATA p.V592I EML3_uc001ntr.1_Missense_Mutation_p.V564I|EML3_uc001nts.1_Missense_Mutation_p.V564I|EML3_uc001ntt.1_Missense_Mutation_p.V476I|EML3_uc010rly.1_Missense_Mutation_p.V592I NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 592 cytoplasm|microtubule protein binding ovary(1) 1 ACCTGGATTACAGGGGAGAAG 0.612 26 82 --- --- --- --- PASS INTS5 80789 broad.mit.edu 37 11 62415076 62415076 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:62415076C>T uc001nud.2 - 2 2529 c.2476G>A c.(2476-2478)GGT>AGT p.G826S GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 826 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 AGCTCTGCACCAGCTGCATCG 0.652 49 102 --- --- --- --- PASS SLC22A8 9376 broad.mit.edu 37 11 62760744 62760744 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:62760744G>T uc001nwo.2 - 11 1730 c.1594C>A c.(1594-1596)CTA>ATA p.L532I SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_3'UTR|SLC22A8_uc009yom.2_Missense_Mutation_p.L409I|SLC22A8_uc010rmm.1_Missense_Mutation_p.L441I|SLC22A8_uc009yon.2_Missense_Mutation_p.L532I NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 532 Extracellular (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 TGAGGCTGTAGAGGGATCCTC 0.602 7 35 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64419624 64419624 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:64419624T>C uc001oar.2 - 14 2858 c.2419A>G c.(2419-2421)AAA>GAA p.K807E NRXN2_uc001oas.2_Missense_Mutation_p.K767E|NRXN2_uc001oaq.2_Missense_Mutation_p.K474E NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 TCGGGGCCTTTACCTGCGGCA 0.582 9 31 --- --- --- --- PASS NPAS4 266743 broad.mit.edu 37 11 66191304 66191304 + Splice_Site SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:66191304A>T uc001ohx.1 + 7 1121 c.945_splice c.e7-2 p.S315_splice NPAS4_uc010rpc.1_Splice_Site_p.S105_splice NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 transcription, DNA-dependent DNA binding|signal transducer activity 0 TCTCCTCTCCAGTGACATGGA 0.577 71 62 --- --- --- --- PASS NPAS4 266743 broad.mit.edu 37 11 66192136 66192136 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:66192136C>G uc001ohx.1 + 7 1951 c.1775C>G c.(1774-1776)GCC>GGC p.A592G NPAS4_uc010rpc.1_Missense_Mutation_p.A382G NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 592 transcription, DNA-dependent DNA binding|signal transducer activity 0 TTGGCCCTAGCCCAGCTCCGG 0.587 73 103 --- --- --- --- PASS MRPL11 65003 broad.mit.edu 37 11 66206131 66206131 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:66206131C>A uc001ohz.3 - 1 180 c.95G>T c.(94-96)GGG>GTG p.G32V MRPL11_uc001ohy.3_Missense_Mutation_p.G32V|MRPL11_uc001oia.3_Intron NM_016050 NP_057134 Q9Y3B7 RM11_HUMAN mitochondrial ribosomal protein L11 isoform a 32 translation structural constituent of ribosome 0 TAGTGGGGGCCCGGGCATGGC 0.692 14 18 --- --- --- --- PASS CARNS1 57571 broad.mit.edu 37 11 67191123 67191123 + Nonsense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:67191123T>A uc009yrp.2 + 9 1987 c.1535T>A c.(1534-1536)TTG>TAG p.L512* PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Nonsense_Mutation_p.L651* NM_020811 NP_065862 A5YM72 CRNS1_HUMAN ATP-grasp domain containing 1 512 carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding 0 CTGCACCTGTTGCACCACCAT 0.662 5 7 --- --- --- --- PASS PRCP 5547 broad.mit.edu 37 11 82536067 82536067 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:82536067C>G uc001ozs.2 - 9 1485 c.1372G>C c.(1372-1374)GAT>CAT p.D458H PRCP_uc001ozr.2_Missense_Mutation_p.D479H NM_005040 NP_005031 P42785 PCP_HUMAN prolylcarboxypeptidase isoform 1 preproprotein 458 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity skin(1) 1 GTGCGGAGATCTAAGTGGTGG 0.493 7 45 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92543101 92543101 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:92543101C>A uc001pdj.3 + 12 9357 c.9340C>A c.(9340-9342)CAG>AAG p.Q3114K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3114 Cadherin 28.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAGGTTCTGCCAGTCCAACAT 0.532 TCGA Ovarian(4;0.039) 58 59 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92616285 92616285 + Silent SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:92616285C>G uc001pdj.3 + 23 12680 c.12663C>G c.(12661-12663)GTC>GTG p.V4221V FAT3_uc001pdi.3_Silent_p.V661V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4221 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCCGCAACGTCTACCAGGAGG 0.657 TCGA Ovarian(4;0.039) 47 76 --- --- --- --- PASS MTNR1B 4544 broad.mit.edu 37 11 92715461 92715461 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:92715461C>G uc001pdk.1 + 2 1175 c.1072C>G c.(1072-1074)CAG>GAG p.Q358E NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 358 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) TGTGCAGCACCAGGCAGATGC 0.597 39 68 --- --- --- --- PASS FOXR1 283150 broad.mit.edu 37 11 118849876 118849876 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:118849876C>A uc001pui.2 + 3 571 c.346C>A c.(346-348)CCT>ACT p.P116T FOXR1_uc001puj.2_RNA|FOXR1_uc001puk.2_Silent_p.P22P NM_181721 NP_859072 Q6PIV2 FOXR1_HUMAN forkhead box R1 116 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GCGGTCTCCCCCTCGGAAGCG 0.627 121 33 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121060483 121060483 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr11:121060483G>C uc010rzo.1 + 22 6261 c.6261G>C c.(6259-6261)TGG>TGC p.W2087C NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 2087 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGCTGGACTGGTGTGAGGACA 0.522 45 34 --- --- --- --- PASS GNB3 2784 broad.mit.edu 37 12 6952794 6952794 + Splice_Site SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:6952794A>T uc001qrd.2 + 8 836 c.431_splice c.e8-2 p.G144_splice GNB3_uc001qrc.2_Splice_Site_p.G100_splice|GNB3_uc009zfe.2_Splice_Site_p.G144_splice NM_002075 NP_002066 P16520 GBB3_HUMAN guanine nucleotide-binding protein, beta-3 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity 0 AACCGCCTCCAGGTTATCTCT 0.612 56 21 --- --- --- --- PASS NANOG 79923 broad.mit.edu 37 12 7942241 7942241 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:7942241T>A uc009zfy.1 + 1 247 c.31T>A c.(31-33)TTG>ATG p.L11M NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Nanog homeobox 11 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Kidney(36;0.0872) TCCCCAAAGCTTGCCTTGCTT 0.428 97 103 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 9001331 9001331 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:9001331C>A uc001quz.3 + 16 1947 c.1849C>A c.(1849-1851)CCA>ACA p.P617T A2ML1_uc001qva.1_Missense_Mutation_p.P197T|A2ML1_uc010sgm.1_Missense_Mutation_p.P117T NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 461 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TGGGATGTTTCCATTCTGGTA 0.478 55 221 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9227156 9227156 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:9227156C>A uc001qvk.1 - 29 3869 c.3756G>T c.(3754-3756)CAG>CAT p.Q1252H A2M_uc001qvj.1_Missense_Mutation_p.Q294H|A2M_uc009zgk.1_Missense_Mutation_p.Q1102H NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1252 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) AATCACCAACCTGGGTGGAGG 0.468 12 11 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13716971 13716971 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:13716971G>A uc001rbt.2 - 13 3380 c.3201C>T c.(3199-3201)ACC>ACT p.T1067T NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1067 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CATAGGTGACGGTGTGGGTTG 0.577 41 24 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15722408 15722408 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:15722408C>A uc001rcv.1 + 19 2979 c.2805C>A c.(2803-2805)GAC>GAA p.D935E PTPRO_uc001rcw.1_Missense_Mutation_p.D907E|PTPRO_uc001rcx.1_Missense_Mutation_p.D124E|PTPRO_uc001rcy.1_Missense_Mutation_p.D124E|PTPRO_uc001rcz.1_Missense_Mutation_p.D96E|PTPRO_uc001rda.1_Missense_Mutation_p.D96E NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 935 Cytoplasmic (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) AAGACTCTGACTATAAATTTT 0.393 31 144 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21069122 21069122 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:21069122G>A uc001rek.2 + 15 2176 c.2050G>A c.(2050-2052)GCT>ACT p.A684T SLCO1B3_uc001rel.2_Missense_Mutation_p.A684T|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 684 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TGTACCTTCTGCTGGAACAGA 0.343 17 79 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46245498 46245498 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:46245498C>G uc001ros.1 + 15 3592 c.3592C>G c.(3592-3594)CCA>GCA p.P1198A ARID2_uc001ror.2_Missense_Mutation_p.P1198A|ARID2_uc009zkg.1_Missense_Mutation_p.P654A|ARID2_uc009zkh.1_Missense_Mutation_p.P825A|ARID2_uc001rou.1_Missense_Mutation_p.P532A NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1198 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GCTCATTGCTCCAGCAGGAAT 0.498 55 45 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48387259 48387259 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:48387259G>A uc001rqu.2 - 15 1132 c.951C>T c.(949-951)AAC>AAT p.N317N COL2A1_uc001rqv.2_Silent_p.N248N NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 317 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCGGAGATCCGTTCTCACCCG 0.532 16 74 --- --- --- --- PASS FMNL3 91010 broad.mit.edu 37 12 50050949 50050949 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:50050949C>A uc001ruv.1 - 7 864 c.630G>T c.(628-630)AGG>AGT p.R210S FMNL3_uc001ruw.1_Missense_Mutation_p.R159S|FMNL3_uc001ruu.1_Missense_Mutation_p.R60S NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 210 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 TCTTCAGGGCCCTGCGCCCAG 0.582 9 154 --- --- --- --- PASS AQP5 362 broad.mit.edu 37 12 50357895 50357895 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:50357895C>A uc001rvo.2 + 3 1071 c.549C>A c.(547-549)TCC>TCA p.S183S NM_001651 NP_001642 P55064 AQP5_HUMAN aquaporin 5 183 Extracellular (Potential). carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity 0 CTGGCTGCTCCATGAACCCAG 0.532 41 27 --- --- --- --- PASS OR6C74 254783 broad.mit.edu 37 12 55641480 55641480 + Nonsense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:55641480A>T uc010spg.1 + 1 409 c.409A>T c.(409-411)AGA>TGA p.R137* NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 CATGAGCAGCAGAGTTTGCAG 0.498 49 167 --- --- --- --- PASS MMP19 4327 broad.mit.edu 37 12 56231417 56231417 + Silent SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:56231417G>C uc001sib.2 - 8 1231 c.1110C>G c.(1108-1110)CCC>CCG p.P370P MMP19_uc001sia.2_Silent_p.P84P|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Intron NM_002429 NP_002420 Q99542 MMP19_HUMAN matrix metalloproteinase 19 isoform rasi-1 370 Hemopexin-like 2. angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1) 1 TCAGCTTCTTGGGGAAGCCAG 0.468 24 143 --- --- --- --- PASS IL23A 51561 broad.mit.edu 37 12 56733876 56733876 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:56733876C>T uc001sla.2 + 4 724 c.558C>T c.(556-558)ACC>ACT p.T186T NM_016584 NP_057668 Q9NPF7 IL23A_HUMAN interleukin 23, alpha subunit p19 precursor 186 defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling interleukin-23 complex cytokine activity 0 GAGCAGCAACCCTGAGTCCCT 0.592 20 115 --- --- --- --- PASS USP15 9958 broad.mit.edu 37 12 62749201 62749201 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:62749201G>T uc001src.1 + 8 869 c.860G>T c.(859-861)GGC>GTC p.G287V USP15_uc001srb.1_Missense_Mutation_p.G258V NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 287 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GAACAGCCAGGCCTCTGTGGC 0.373 26 34 --- --- --- --- PASS CLLU1OS 574016 broad.mit.edu 37 12 92821879 92821879 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:92821879G>T uc001tcb.1 - 1 46 c.44C>A c.(43-45)ACT>AAT p.T15N CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron|CLLU1_uc001tcf.2_Intron NM_001025232 NP_001020403 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 15 0 accagtggcagtcttaaggca 0.065 114 61 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99793515 99793515 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:99793515G>T uc001tge.1 - 12 2067 c.1650C>A c.(1648-1650)ATC>ATA p.I550I ANKS1B_uc001tgf.1_Silent_p.I130I|ANKS1B_uc009ztt.1_Silent_p.I516I NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 550 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TAGATGTGTTGATTTCAAAAT 0.438 44 176 --- --- --- --- PASS TCTN1 79600 broad.mit.edu 37 12 111057646 111057646 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr12:111057646G>C uc009zvs.2 + 2 334 c.226G>C c.(226-228)GTT>CTT p.V76L TCTN1_uc010syb.1_Missense_Mutation_p.V76L|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.V16L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.V76L|TCTN1_uc001trn.3_Missense_Mutation_p.V76L|TCTN1_uc001tri.2_Missense_Mutation_p.V20L|TCTN1_uc001trj.1_Missense_Mutation_p.V20L|TCTN1_uc001trk.3_RNA NM_001082537 NP_001076006 Q2MV58 TECT1_HUMAN tectonic family member 1 isoform 2 76 multicellular organismal development extracellular region 0 TGCAGTTGCTGTTCTCTGTGT 0.502 139 57 --- --- --- --- PASS EDNRB 1910 broad.mit.edu 37 13 78474025 78474025 + Nonsense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr13:78474025A>T uc001vko.2 - 6 1421 c.1163T>A c.(1162-1164)TTG>TAG p.L388* EDNRB_uc001vkq.1_Nonsense_Mutation_p.L388*|uc001vkn.1_Intron|EDNRB_uc010aez.1_Nonsense_Mutation_p.L388*|EDNRB_uc001vkp.1_Nonsense_Mutation_p.L471* NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 388 Helical; Name=7; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) TTTGCTCACCAAATACAGAGC 0.343 41 22 --- --- --- --- PASS UBAC2 337867 broad.mit.edu 37 13 100020152 100020152 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr13:100020152G>A uc001voa.3 + 8 1403 c.919G>A c.(919-921)GAG>AAG p.E307K UBAC2_uc010tiu.1_Missense_Mutation_p.E329K|UBAC2_uc001vob.3_Missense_Mutation_p.E280K|UBAC2_uc010tiv.1_RNA|UBAC2_uc001vod.2_Missense_Mutation_p.E194K|UBAC2_uc001voc.2_Missense_Mutation_p.E272K|UBAC2_uc010tiw.1_RNA|UBAC2_uc001voh.2_Missense_Mutation_p.E111K NM_001144072 NP_001137544 Q8NBM4 UBAC2_HUMAN UBA domain containing 2 isoform 1 307 UBA.|Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGAAGTTTCTGAGGAACAGGT 0.443 37 16 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19563501 19563501 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:19563501C>A uc001vuz.1 + 5 1067 c.1015C>A c.(1015-1017)CAG>AAG p.Q339K POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 339 ovary(1) 1 TCTATCTGGACAGACGGCCAG 0.358 156 511 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23886518 23886518 + Nonsense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:23886518C>A uc001wjx.2 - 32 4469 c.4363G>T c.(4363-4365)GAG>TAG p.E1455* NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1455 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGCTTCCACTCGGCCAGGATC 0.622 47 33 --- --- --- --- PASS ADCY4 196883 broad.mit.edu 37 14 24787706 24787706 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:24787706C>A uc001wov.2 - 25 3156 c.3150G>T c.(3148-3150)AAG>AAT p.K1050N ADCY4_uc001wow.2_Missense_Mutation_p.K1050N|ADCY4_uc010toh.1_Missense_Mutation_p.K736N|ADCY4_uc001wox.2_Missense_Mutation_p.K1050N|ADCY4_uc001woy.2_Missense_Mutation_p.K1050N NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 1050 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) TGCCTTTCACCTTGATGACAC 0.567 63 49 --- --- --- --- PASS NFATC4 4776 broad.mit.edu 37 14 24842951 24842951 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:24842951G>A uc001wpc.2 + 5 1931 c.1610G>A c.(1609-1611)CGG>CAG p.R537Q NFATC4_uc010tok.1_Missense_Mutation_p.R600Q|NFATC4_uc010tol.1_Missense_Mutation_p.R600Q|NFATC4_uc010alr.2_Missense_Mutation_p.R600Q|NFATC4_uc010als.2_Missense_Mutation_p.R550Q|NFATC4_uc010tom.1_Missense_Mutation_p.R550Q|NFATC4_uc010ton.1_Missense_Mutation_p.R550Q|NFATC4_uc010too.1_Missense_Mutation_p.R550Q|NFATC4_uc010alt.2_Missense_Mutation_p.R569Q|NFATC4_uc010top.1_Missense_Mutation_p.R569Q|NFATC4_uc010toq.1_Missense_Mutation_p.R569Q|NFATC4_uc010alu.2_Missense_Mutation_p.R229Q|NFATC4_uc010tor.1_Missense_Mutation_p.R537Q|NFATC4_uc010tos.1_Missense_Mutation_p.R467Q|NFATC4_uc010tot.1_Missense_Mutation_p.R525Q|NFATC4_uc010tou.1_Missense_Mutation_p.R467Q|NFATC4_uc010tov.1_Missense_Mutation_p.R525Q|NFATC4_uc010tow.1_Missense_Mutation_p.R467Q|NFATC4_uc010alv.2_Missense_Mutation_p.R525Q|NFATC4_uc010tox.1_Missense_Mutation_p.R467Q|NFATC4_uc001wpd.2_Missense_Mutation_p.R72Q|NFATC4_uc010toy.1_Missense_Mutation_p.R72Q|NFATC4_uc010toz.1_Missense_Mutation_p.R72Q|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 537 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) ATTGAGCTTCGGAAGGGTGAG 0.577 26 190 --- --- --- --- PASS MBIP 51562 broad.mit.edu 37 14 36786011 36786011 + Missense_Mutation SNP A C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:36786011A>C uc001wtm.2 - 2 225 c.137T>G c.(136-138)CTC>CGC p.L46R MBIP_uc001wto.2_Missense_Mutation_p.L46R|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.L46R NM_016586 NP_057670 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 isoform 1 46 histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity 0 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) ATCATCTCTGAGGTCAAGCTT 0.413 18 91 --- --- --- --- PASS WDHD1 11169 broad.mit.edu 37 14 55493433 55493433 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:55493433C>A uc001xbm.1 - 2 151 c.73G>T c.(73-75)GGG>TGG p.G25W WDHD1_uc001xbn.1_Intron|SOCS4_uc001xbo.2_5'Flank|SOCS4_uc001xbp.2_5'Flank NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 25 WD 1. cytoplasm|nucleoplasm DNA binding skin(1) 1 CCTTACCTCCCAGAATCATCA 0.398 91 73 --- --- --- --- PASS C14orf39 317761 broad.mit.edu 37 14 60928127 60928127 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:60928127C>A uc001xez.3 - 13 1172 c.1062G>T c.(1060-1062)TTG>TTT p.L354F C14orf39_uc010apo.2_Missense_Mutation_p.L65F NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN hypothetical protein LOC317761 354 ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0448) GTGGGGTTAACAATCTAAAAT 0.279 12 47 --- --- --- --- PASS RHOJ 57381 broad.mit.edu 37 14 63671679 63671679 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:63671679C>A uc001xgb.1 + 1 535 c.92C>A c.(91-93)GCC>GAC p.A31D NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 31 GTP (By similarity). actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) GGGGACGGTGCCGTGGGGAAA 0.562 8 39 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64610582 64610582 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:64610582G>A uc001xgm.2 + 83 15629 c.15399G>A c.(15397-15399)AAG>AAA p.K5133K SYNE2_uc001xgl.2_Silent_p.K5133K|SYNE2_uc010apy.2_Silent_p.K1518K|SYNE2_uc001xgn.2_Silent_p.K95K|SYNE2_uc001xgo.2_RNA NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5133 Spectrin 2.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAGAAAGCAAGCGCTATGAAA 0.448 206 164 --- --- --- --- PASS DCAF5 8816 broad.mit.edu 37 14 69584943 69584943 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:69584943C>A uc001xkp.2 - 4 667 c.448G>T c.(448-450)GTG>TTG p.V150L DCAF5_uc001xkq.2_Missense_Mutation_p.V149L|DCAF5_uc001xkr.3_Missense_Mutation_p.V150L|DCAF5_uc001xks.2_3'UTR NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 150 WD 3. CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 ACTGGGCTCACAGACAAGCCA 0.493 31 36 --- --- --- --- PASS SLC8A3 6547 broad.mit.edu 37 14 70634927 70634927 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:70634927C>A uc001xly.2 - 2 967 c.213G>T c.(211-213)GGG>GGT p.G71G SLC8A3_uc001xlw.2_Silent_p.G71G|SLC8A3_uc001xlx.2_Silent_p.G71G|SLC8A3_uc001xlz.2_Silent_p.G71G|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 71 Extracellular (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CAATCTTGTCCCCAAGGGAAG 0.517 12 54 --- --- --- --- PASS RBM25 58517 broad.mit.edu 37 14 73550249 73550249 + Silent SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:73550249A>T uc001xno.2 + 5 580 c.372A>T c.(370-372)GGA>GGT p.G124G RBM25_uc001xnn.3_Silent_p.G124G|RBM25_uc010ttu.1_Silent_p.G124G|RBM25_uc001xnp.2_Intron NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 124 RRM. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) GTGCTTCCGGAAAGCTTCAAG 0.323 13 54 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 74969447 74969447 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:74969447G>T uc001xqa.2 - 34 5466 c.5079C>A c.(5077-5079)AAC>AAA p.N1693K NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1693 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GACCGGCTGTGTTGGGGAAGG 0.627 102 53 --- --- --- --- PASS SPTLC2 9517 broad.mit.edu 37 14 78063612 78063612 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:78063612T>C uc001xub.2 - 2 432 c.244A>G c.(244-246)ACC>GCC p.T82A NM_004863 NP_004854 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base 82 Helical; (Potential). integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups upper_aerodigestive_tract(1)|ovary(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CCAAAGAGGGTGAGTACGCCA 0.398 67 56 --- --- --- --- PASS GALC 2581 broad.mit.edu 37 14 88454509 88454509 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:88454509C>A uc001xvt.2 - 3 706 c.307G>T c.(307-309)GGT>TGT p.G103C GALC_uc010tvx.1_Missense_Mutation_p.G77C|GALC_uc010tvy.1_Missense_Mutation_p.G80C|GALC_uc010tvz.1_Missense_Mutation_p.G47C|GALC_uc001xvu.1_Missense_Mutation_p.G103C NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 103 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 CCATCACCACCTATTTCCACT 0.368 15 90 --- --- --- --- PASS RIN3 79890 broad.mit.edu 37 14 93043795 93043795 + Nonsense_Mutation SNP G T T rs139542247 TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:93043795G>T uc001yap.2 + 3 492 c.340G>T c.(340-342)GAA>TAA p.E114* RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Nonsense_Mutation_p.E39* NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 114 SH2. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CGAGGTGCTCGAATACACCAT 0.522 39 151 --- --- --- --- PASS MOAP1 64112 broad.mit.edu 37 14 93650150 93650150 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:93650150C>T uc001ybj.2 - 3 808 c.438G>A c.(436-438)TTG>TTA p.L146L C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank NM_022151 NP_071434 Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 146 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity skin(2)|ovary(1) 3 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) atgcctgtgccaacatagggg 0.000 16 229 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94129013 94129013 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:94129013G>A uc001ybv.1 + 39 6324 c.6241G>A c.(6241-6243)GCC>ACC p.A2081T KIAA1409_uc001ybs.1_Missense_Mutation_p.A2059T NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2236 Helical; (Potential). integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CTTCACTCTGGCCTACCTGGT 0.433 12 54 --- --- --- --- PASS MIR496 574454 broad.mit.edu 37 14 101526921 101526921 + RNA SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:101526921T>C hsa-mir-496|MI0003136 + c.12T>C uc010awh.1_5'Flank|MIR377_hsa-mir-377|MI0000785_5'Flank 0 CCAAGTCAGGTACTCGAATGG 0.507 9 13 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106311806 106311806 + RNA SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:106311806T>C uc010tyt.1 - 3608 c.57117A>G uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Missense_Mutation_p.Q83R|uc001ysk.1_Missense_Mutation_p.Q83R|uc001ysl.1_Missense_Mutation_p.Q83R|uc001ysm.1_Missense_Mutation_p.Q26R|uc001ysn.1_Missense_Mutation_p.Q26R|uc001yso.1_Missense_Mutation_p.Q26R Parts of antibodies, mostly variable regions. 0 GGTGGAGAGCTGGCTGCTTGT 0.587 42 36 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106780656 106780656 + RNA SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:106780656A>T uc010tyt.1 - 413 c.15206T>A Parts of antibodies, mostly variable regions. 0 TAATAGATGTACCCAATCCAC 0.557 29 122 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107078494 107078494 + RNA SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr14:107078494G>A uc010tyt.1 - 117 c.5796C>T Parts of antibodies, mostly variable regions. 0 TGCGTAGTTTGTGTTACCACT 0.532 69 100 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26792999 26792999 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr15:26792999C>G uc001zaz.2 - 9 1505 c.1363G>C c.(1363-1365)GTG>CTG p.V455L GABRB3_uc010uae.1_Missense_Mutation_p.V370L|GABRB3_uc001zba.2_Missense_Mutation_p.V455L|GABRB3_uc001zbb.2_Missense_Mutation_p.V511L NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 455 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AATGGAAACACGATCCTGGAC 0.398 44 79 --- --- --- --- PASS CHRM5 1133 broad.mit.edu 37 15 34355547 34355547 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr15:34355547C>T uc001zhk.1 + 3 1299 c.629C>T c.(628-630)ACC>ATC p.T210I CHRM5_uc001zhl.1_Missense_Mutation_p.T210I NM_012125 NP_036257 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 210 Helical; Name=5; (By similarity). cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|central_nervous_system(1) 2 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) TCTGTCATGACCATCCTCTAC 0.512 178 100 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48548064 48548064 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr15:48548064G>A uc001zwn.3 + 16 2215 c.1999G>A c.(1999-2001)GCT>ACT p.A667T SLC12A1_uc010uew.1_Missense_Mutation_p.A473T|SLC12A1_uc010bem.2_Missense_Mutation_p.A667T|SLC12A1_uc001zwq.3_Missense_Mutation_p.A438T|SLC12A1_uc001zwr.3_Missense_Mutation_p.A394T NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 667 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TTTAGACAATGCTCTGGAATT 0.463 7 6 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48826374 48826374 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr15:48826374C>A uc001zwx.1 - 8 1093 c.765G>T c.(763-765)GGG>GGT p.G255G NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 255 EGF-like 4; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCTGACAGAGCCCGGGGATGG 0.393 162 104 --- --- --- --- PASS CILP 8483 broad.mit.edu 37 15 65491427 65491427 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr15:65491427C>A uc002aon.2 - 9 1378 c.1197G>T c.(1195-1197)GAG>GAT p.E399D NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 399 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 TGCAAGGAGTCTCATCAGATG 0.408 35 21 --- --- --- --- PASS UACA 55075 broad.mit.edu 37 15 70959875 70959875 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr15:70959875G>C uc002asr.2 - 16 3252 c.3148C>G c.(3148-3150)CTC>GTC p.L1050V UACA_uc010uke.1_Missense_Mutation_p.L941V|UACA_uc002asq.2_Missense_Mutation_p.L1037V|UACA_uc010bin.1_Missense_Mutation_p.L1025V NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 1050 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 TTCTCAATGAGAACTGTCTTA 0.348 68 32 --- --- --- --- PASS TMEM202 338949 broad.mit.edu 37 15 72690670 72690670 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr15:72690670G>A uc002auq.2 + 1 3 c.3G>A c.(1-3)ATG>ATA p.M1I TMEM202_uc002aur.2_RNA NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN transmembrane protein 202 1 integral to membrane central_nervous_system(1)|skin(1) 2 CTGCCAAGATGGAGCGAAGGG 0.473 6 8 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74426101 74426101 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr15:74426101G>C uc002axd.2 + 4 1775 c.1006G>C c.(1006-1008)GCA>CCA p.A336P ISLR2_uc002axe.2_Missense_Mutation_p.A336P|ISLR2_uc010bjg.2_Missense_Mutation_p.A336P|ISLR2_uc010bjf.2_Missense_Mutation_p.A336P NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 336 Ig-like.|Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CCTGGCCCTCGCAAATGGCTC 0.602 6 4 --- --- --- --- PASS BCL2A1 597 broad.mit.edu 37 15 80263171 80263171 + Silent SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr15:80263171A>G uc002bfc.3 - 1 473 c.291T>C c.(289-291)GGT>GGC p.G97G BCL2A1_uc002bfd.3_Silent_p.G97G NM_004049 NP_004040 Q16548 B2LA1_HUMAN BCL2-related protein A1 isoform 1 97 BH1. anti-apoptosis|apoptosis cytoplasm protein binding pancreas(1) 1 TGATGAGAATACCTTCAAATG 0.388 130 87 --- --- --- --- PASS KCTD5 54442 broad.mit.edu 37 16 2749842 2749842 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:2749842C>T uc002crd.2 + 4 529 c.474C>T c.(472-474)TAC>TAT p.Y158Y NM_018992 NP_061865 Q9NXV2 KCTD5_HUMAN potassium channel tetramerisation domain 158 interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity 0 AGCATGTGTACCGTGTGCTGC 0.652 42 61 --- --- --- --- PASS C16orf68 79091 broad.mit.edu 37 16 8722823 8722823 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:8722823G>T uc002cyz.2 + 3 646 c.370G>T c.(370-372)GTG>TTG p.V124L C16orf68_uc002cza.2_Intron NM_024109 NP_077014 Q9BUU2 MET22_HUMAN hypothetical protein LOC79091 124 methyltransferase activity 0 GGATTTGGACGTGGTGAGAAG 0.567 75 67 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9857766 9857766 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:9857766G>T uc002czo.3 - 13 4183 c.3635C>A c.(3634-3636)ACG>AAG p.T1212K GRIN2A_uc010uym.1_Missense_Mutation_p.T1212K|GRIN2A_uc010uyn.1_Missense_Mutation_p.T1055K|GRIN2A_uc002czr.3_Missense_Mutation_p.T1212K NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1212 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTGCAGTGCGTGGAGTTCTG 0.557 184 206 --- --- --- --- PASS ACSM3 6296 broad.mit.edu 37 16 20802007 20802007 + Nonsense_Mutation SNP C G G rs34381224 byFrequency TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:20802007C>G uc002dhr.2 + 10 1510 c.1323C>G c.(1321-1323)TAC>TAG p.Y441* ACSM3_uc010vba.1_Nonsense_Mutation_p.Y470*|ERI2_uc002dhs.2_Intron NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 441 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 TTACTCATTACGTAGTAAGTG 0.373 55 125 --- --- --- --- PASS GTF3C1 2975 broad.mit.edu 37 16 27509984 27509984 + Missense_Mutation SNP C A A rs143838885 by1000genomes TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:27509984C>A uc002dov.1 - 13 2172 c.2132G>T c.(2131-2133)CGC>CTC p.R711L GTF3C1_uc002dou.2_Missense_Mutation_p.R711L NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 711 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GATCCGGAAGCGGACCTGCTC 0.582 118 137 --- --- --- --- PASS KIAA0556 23247 broad.mit.edu 37 16 27752197 27752197 + Missense_Mutation SNP A C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:27752197A>C uc002dow.2 + 15 2603 c.2579A>C c.(2578-2580)GAT>GCT p.D860A NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 860 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 TCAAGGAAGGATGCTGGCAGC 0.582 3 11 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30719027 30719027 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:30719027G>T uc002dze.1 + 6 1012 c.627G>T c.(625-627)GTG>GTT p.V209V SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.V66V|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 209 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GGAGCAATGTGGAGAAGGTAG 0.522 26 35 --- --- --- --- PASS ITGAM 3684 broad.mit.edu 37 16 31309148 31309148 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:31309148T>A uc002ebq.2 + 14 1678 c.1580T>A c.(1579-1581)CTG>CAG p.L527Q ITGAM_uc002ebr.2_Missense_Mutation_p.L528Q|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 527 FG-GAP 6.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CTAACAGTGCTGGGGGACGTA 0.607 18 55 --- --- --- --- PASS VPS35 55737 broad.mit.edu 37 16 46714640 46714640 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:46714640C>T uc002eef.3 - 5 548 c.449G>A c.(448-450)CGA>CAA p.R150Q VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.R111Q NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 150 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AAGGTAATTTCGAAGAAACAG 0.378 25 85 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48138185 48138185 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:48138185A>T uc002efc.1 - 20 3114 c.2768T>A c.(2767-2769)CTG>CAG p.L923Q ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 923 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) GTGAAACGGCAGCCTCACATC 0.483 82 77 --- --- --- --- PASS N4BP1 9683 broad.mit.edu 37 16 48594716 48594716 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:48594716C>T uc002efp.2 - 2 2075 c.1838G>A c.(1837-1839)GGG>GAG p.G613E NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 613 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) ATCCGTTCTCCCTGGTTCATT 0.368 58 256 --- --- --- --- PASS C16orf78 123970 broad.mit.edu 37 16 49433126 49433126 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:49433126C>T uc002efr.2 + 5 778 c.735C>T c.(733-735)CAC>CAT p.H245H NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN hypothetical protein LOC123970 245 central_nervous_system(1) 1 TCCACCCCCACATGGTCGAAG 0.498 32 112 --- --- --- --- PASS FTO 79068 broad.mit.edu 37 16 53913764 53913764 + Silent SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:53913764A>G uc002ehr.2 + 6 1206 c.984A>G c.(982-984)ACA>ACG p.T328T FTO_uc010vha.1_Silent_p.T32T NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 328 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGTGCTCAACAGGAACCTTGG 0.423 142 100 --- --- --- --- PASS CDH11 1009 broad.mit.edu 37 16 65038625 65038625 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:65038625G>A uc002eoi.2 - 3 582 c.148C>T c.(148-150)CGC>TGC p.R50C CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.R50C|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Missense_Mutation_p.R50C NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 50 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CGCTTGGAGCGCTGTAGCACC 0.647 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 3 26 --- --- --- --- PASS LCAT 3931 broad.mit.edu 37 16 67976608 67976608 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:67976608C>T uc002euy.1 - 4 500 c.489G>A c.(487-489)GTG>GTA p.V163V NM_000229 NP_000220 P04180 LCAT_HUMAN lecithin-cholesterol acyltransferase precursor 163 cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12) GGGCGGCGCGCACAGTCTCGT 0.687 13 145 --- --- --- --- PASS DHX38 9785 broad.mit.edu 37 16 72142741 72142741 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:72142741C>T uc002fcb.2 + 24 3653 c.3298C>T c.(3298-3300)CAC>TAC p.H1100Y DHX38_uc010vmp.1_Missense_Mutation_p.H412Y NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 1100 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) GATGCCCTGCCACTTGCACCC 0.542 87 10 --- --- --- --- PASS RFWD3 55159 broad.mit.edu 37 16 74678506 74678506 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:74678506C>A uc002fda.2 - 5 1018 c.920G>T c.(919-921)TGT>TTT p.C307F RFWD3_uc010cgq.2_Missense_Mutation_p.C307F NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 307 RING-type; degenerate. DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 GAGATGCCCACAGCGTAATGC 0.483 20 185 --- --- --- --- PASS FAM92B 339145 broad.mit.edu 37 16 85132794 85132794 + Silent SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:85132794G>C uc010vok.1 - 8 1068 c.912C>G c.(910-912)CTC>CTG p.L304L NM_198491 NP_940893 Q6ZTR7 FA92B_HUMAN hypothetical protein LOC339145 304 central_nervous_system(1) 1 TACGTCGTTAGAGAGAATGTC 0.318 5 142 --- --- --- --- PASS SLC7A5 8140 broad.mit.edu 37 16 87874694 87874694 + Silent SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:87874694C>G uc002fkm.2 - 3 804 c.732G>C c.(730-732)GTG>GTC p.V244V NM_003486 NP_003477 Q01650 LAT1_HUMAN solute carrier family 7 (cationic amino acid 244 Helical; (Potential). blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding 0 BRCA - Breast invasive adenocarcinoma(80;0.049) ATAATGCCAGCACAATGTTCC 0.517 41 77 --- --- --- --- PASS CA5A 763 broad.mit.edu 37 16 87960508 87960508 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:87960508G>A uc002fkn.1 - 2 242 c.186C>T c.(184-186)ACC>ACT p.T62T NM_001739 NP_001730 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial precursor 62 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0513) GAGACTGCCGGGTGCCCCCTG 0.602 6 9 --- --- --- --- PASS ACSF3 197322 broad.mit.edu 37 16 89169102 89169102 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:89169102G>T uc002fmp.2 + 4 1097 c.757G>T c.(757-759)GCG>TCG p.A253S ACSF3_uc010cig.1_Missense_Mutation_p.A253S|ACSF3_uc010cih.1_5'UTR|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'UTR NM_174917 NP_777577 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 precursor 253 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0281) TGTGGTCAACGCGCTGCTCTG 0.627 10 67 --- --- --- --- PASS OR1D2 4991 broad.mit.edu 37 17 2996172 2996172 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:2996172A>T uc010vrb.1 - 1 119 c.119T>A c.(118-120)GTG>GAG p.V40E NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 40 Helical; Name=1; (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 CACATTTCCCACCACCGTGAC 0.542 58 189 --- --- --- --- PASS ZZEF1 23140 broad.mit.edu 37 17 3967877 3967877 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:3967877G>A uc002fxe.2 - 29 4560 c.4496C>T c.(4495-4497)TCC>TTC p.S1499F ZZEF1_uc002fxh.2_5'Flank|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.S112F NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1499 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCCACTGCTGGATGGCAGCTT 0.642 6 60 --- --- --- --- PASS GP1BA 2811 broad.mit.edu 37 17 4837541 4837541 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:4837541C>T uc010vsq.1 + 3 1678 c.1603C>T c.(1603-1605)CTC>TTC p.L535F uc002fzn.1_RNA NM_000173 NP_000164 P07359 GP1BA_HUMAN platelet glycoprotein Ib alpha polypeptide 548 0 CTCTGTGGTCCTCATCCTGCT 0.577 66 30 --- --- --- --- PASS ASGR2 433 broad.mit.edu 37 17 7011806 7011806 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:7011806C>A uc002gep.3 - 4 592 c.327G>T c.(325-327)ACG>ACT p.T109T ASGR2_uc010vtk.1_5'Flank|ASGR2_uc002gem.1_Silent_p.T49T|ASGR2_uc002gen.1_Silent_p.T90T|ASGR2_uc002geo.1_Silent_p.T104T|ASGR2_uc002ger.3_Silent_p.T109T|ASGR2_uc002geq.3_Silent_p.T85T|ASGR2_uc010clw.2_Silent_p.T85T|ASGR2_uc010vtl.1_RNA NM_001181 NP_001172 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 isoform a 109 Extracellular (Potential). cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding ovary(1) 1 Antihemophilic Factor(DB00025) CCTGGACCTCCGTCAGGGTGC 0.612 11 7 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578407 7578407 + Missense_Mutation SNP G C C rs138729528 TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:7578407G>C uc002gim.2 - 5 717 c.523C>G c.(523-525)CGC>GGC p.R175G TP53_uc002gig.1_Missense_Mutation_p.R175G|TP53_uc002gih.2_Missense_Mutation_p.R175G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43G|TP53_uc010cng.1_Missense_Mutation_p.R43G|TP53_uc002gii.1_Missense_Mutation_p.R43G|TP53_uc010cnh.1_Missense_Mutation_p.R175G|TP53_uc010cni.1_Missense_Mutation_p.R175G|TP53_uc002gij.2_Missense_Mutation_p.R175G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82G|TP53_uc002gio.2_Missense_Mutation_p.R43G|TP53_uc010vug.1_Missense_Mutation_p.R136G NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGGGGCAGCGCCTCACAACC 0.657 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 42 12 --- --- --- --- PASS KDM6B 23135 broad.mit.edu 37 17 7750033 7750033 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:7750033G>A uc002giw.1 + 8 1062 c.686G>A c.(685-687)CGA>CAA p.R229Q KDM6B_uc002gix.2_5'Flank NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 229 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 GGAGGCAAGCGAAGGAGAGGC 0.622 81 18 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11837289 11837289 + Nonsense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:11837289C>A uc002gne.2 + 65 12458 c.12390C>A c.(12388-12390)TAC>TAA p.Y4130* DNAH9_uc010coo.2_Nonsense_Mutation_p.Y3348*|DNAH9_uc002gnf.2_Nonsense_Mutation_p.Y442* NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4130 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCAGAACCTACCTGGGGGAAT 0.493 83 33 --- --- --- --- PASS SEBOX 645832 broad.mit.edu 37 17 26691546 26691546 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:26691546G>A uc010wai.1 - 3 409 c.395C>T c.(394-396)CCC>CTC p.P132L SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Missense_Mutation_p.P131L|SARM1_uc010waj.1_Intron NM_001080837 NP_001074306 Q9HB31 SEBOX_HUMAN SEBOX homeobox isoform 1 132 cell differentiation|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TGGCATTTGGGGATCCCAGGG 0.582 31 25 --- --- --- --- PASS KIAA0100 9703 broad.mit.edu 37 17 26970223 26970223 + Nonsense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:26970223C>A uc002hbu.2 - 4 454 c.355G>T c.(355-357)GAA>TAA p.E119* KIAA0100_uc002hbv.2_Nonsense_Mutation_p.E119*|KIAA0100_uc010crr.1_5'UTR NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 119 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AAGGACAGTTCCTTTTGATCC 0.493 96 134 --- --- --- --- PASS KIAA0100 9703 broad.mit.edu 37 17 26970224 26970224 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:26970224C>A uc002hbu.2 - 4 453 c.354G>T c.(352-354)AAG>AAT p.K118N KIAA0100_uc002hbv.2_Missense_Mutation_p.K118N|KIAA0100_uc010crr.1_Translation_Start_Site NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 118 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AGGACAGTTCCTTTTGATCCA 0.493 96 137 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29541520 29541520 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:29541520A>G uc002hgg.2 + 13 1777 c.1444A>G c.(1444-1446)ACA>GCA p.T482A NF1_uc002hge.1_Missense_Mutation_p.T482A|NF1_uc002hgf.1_Missense_Mutation_p.T482A|NF1_uc002hgh.2_Missense_Mutation_p.T482A|NF1_uc010csn.1_Missense_Mutation_p.T342A NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 482 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGAAAAACCTACAGACCTGGA 0.313 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 28 56 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29676265 29676265 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:29676265A>T uc002hgg.2 + 49 7650 c.7317A>T c.(7315-7317)TTA>TTT p.L2439F NF1_uc002hgh.2_Missense_Mutation_p.L2418F|NF1_uc010cso.2_Missense_Mutation_p.L627F|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2439 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGGCCTACTTAGCAGGTAAAA 0.338 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 19 28 --- --- --- --- PASS RHOT1 55288 broad.mit.edu 37 17 30526045 30526045 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:30526045G>T uc002hgz.2 + 12 1188 c.949G>T c.(949-951)GAT>TAT p.D317Y RHOT1_uc002hgw.2_Missense_Mutation_p.D317Y|RHOT1_uc002hgy.2_Missense_Mutation_p.D317Y|RHOT1_uc002hha.2_Missense_Mutation_p.D190Y|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.D190Y|RHOT1_uc010wby.1_Missense_Mutation_p.D317Y|RHOT1_uc002hhb.2_Missense_Mutation_p.D296Y|RHOT1_uc002hgv.2_Missense_Mutation_p.D317Y NM_018307 NP_060777 Q8IXI2 MIRO1_HUMAN ras homolog gene family, member T1 isoform 3 317 EF-hand 2.|2 (Probable).|Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) TGACAAGCATGATTTGGTAAG 0.328 117 92 --- --- --- --- PASS AMAC1 146861 broad.mit.edu 37 17 33520727 33520727 + Silent SNP G T T rs147862619 TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:33520727G>T uc002hjd.2 - 1 686 c.600C>A c.(598-600)GGC>GGA p.G200G NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 200 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) ACAGCGCCAGGCCTCCCAGGA 0.602 65 119 --- --- --- --- PASS KRTAP3-3 85293 broad.mit.edu 37 17 39150267 39150267 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:39150267C>A uc002hvr.1 - 1 119 c.83G>T c.(82-84)TGT>TTT p.C28F NM_033185 NP_149441 Q9BYR6 KRA33_HUMAN keratin associated protein 3-3 28 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity 0 Breast(137;0.00043) GCAGACTCCACAGCGGCAGGA 0.612 79 77 --- --- --- --- PASS SC65 10609 broad.mit.edu 37 17 39959557 39959557 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:39959557C>G uc002hxt.2 - 7 1557 c.1273G>C c.(1273-1275)GGT>CGT p.G425R SC65_uc002hxu.2_Missense_Mutation_p.G516R NM_006455 NP_006446 Q92791 SC65_HUMAN synaptonemal complex protein SC65 425 Asp/Glu-rich (acidic). synaptonemal complex assembly nucleolus|synaptonemal complex binding 0 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(366;0.149) GCCTCGTCACCCTTGGCATCC 0.642 18 85 --- --- --- --- PASS KCNH4 23415 broad.mit.edu 37 17 40330849 40330849 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:40330849T>C uc002hzb.2 - 2 605 c.272A>G c.(271-273)CAG>CGG p.Q91R NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 91 Cytoplasmic (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCGGTGCTCCTGGTGGCCCTC 0.597 29 82 --- --- --- --- PASS RAMP2 10266 broad.mit.edu 37 17 40913878 40913878 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:40913878G>T uc002ibg.2 + 2 192 c.124G>T c.(124-126)GCT>TCT p.A42S LOC100190938_uc002ibd.1_5'Flank|LOC100190938_uc002ibe.3_5'Flank|LOC100190938_uc002ibf.3_5'Flank|RAMP2_uc010cyt.2_Missense_Mutation_p.A42S|RAMP2_uc002ibh.2_Missense_Mutation_p.A42S NM_005854 NP_005845 O60895 RAMP2_HUMAN receptor activity modifying protein 2 precursor 42 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway coated pit|integral to plasma membrane|lysosome protein transporter activity 0 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0741) Pramlintide(DB01278) CGAGGCCCTGGCTCAGCCTCT 0.647 12 27 --- --- --- --- PASS BRCA1 672 broad.mit.edu 37 17 41246004 41246004 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:41246004T>A uc002icq.2 - 10 1776 c.1544A>T c.(1543-1545)GAG>GTG p.E515V BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E444V|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E468V|BRCA1_uc002ict.2_Missense_Mutation_p.E515V|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E515V|BRCA1_uc002ide.1_Missense_Mutation_p.E346V|BRCA1_uc010cyy.1_Missense_Mutation_p.E515V|BRCA1_uc010whs.1_Missense_Mutation_p.E515V|BRCA1_uc010cyz.2_Missense_Mutation_p.E468V|BRCA1_uc010cza.2_Missense_Mutation_p.E489V|BRCA1_uc010wht.1_Missense_Mutation_p.E219V NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 515 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GATAAAATCCTCAGGATGAAG 0.388 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 60 135 --- --- --- --- PASS CRHR1 1394 broad.mit.edu 37 17 43893944 43893944 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:43893944C>T uc010dap.2 + 3 502 c.237C>T c.(235-237)ACC>ACT p.T79T CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.P7L|CRHR1_uc002ijm.2_Silent_p.T79T|CRHR1_uc002ijn.2_Intron|CRHR1_uc010dar.2_Silent_p.T79T|CRHR1_uc010dao.2_Missense_Mutation_p.P7L|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_Intron NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 79 Extracellular (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) GCTACAATACCACAAGTAAGG 0.582 20 42 --- --- --- --- PASS HOXB1 3211 broad.mit.edu 37 17 46608014 46608014 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:46608014C>T uc002ink.1 - 1 259 c.253G>A c.(253-255)GCT>ACT p.A85T NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 85 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCGGCAGGAGCATACCCCGAG 0.657 40 78 --- --- --- --- PASS TSEN54 283989 broad.mit.edu 37 17 73517538 73517538 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:73517538G>T uc002jof.1 + 7 603 c.570G>T c.(568-570)GTG>GTT p.V190V TSEN54_uc002joe.1_3'UTR NM_207346 NP_997229 Q7Z6J9 SEN54_HUMAN tRNA splicing endonuclease 54 homolog 190 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation nucleolus ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) ATGCCAGCGTGCAGCACTTGG 0.632 20 57 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76558032 76558032 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:76558032G>C uc002jvv.1 - 8 812 c.706C>G c.(706-708)CGG>GGG p.R236G RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATCAGGGGCCGCTCCATGAGG 0.577 35 26 --- --- --- --- PASS BAHCC1 57597 broad.mit.edu 37 17 79409552 79409552 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:79409552A>G uc002kaf.2 + 3 1177 c.1177A>G c.(1177-1179)ACC>GCC p.T393A BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 393 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CAGCGGGCCCACCTTCGTGCC 0.731 9 10 --- --- --- --- PASS WDR45L 56270 broad.mit.edu 37 17 80575231 80575231 + Silent SNP G A A rs145253791 byFrequency TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:80575231G>A uc002kfq.2 - 8 942 c.747C>T c.(745-747)AGC>AGT p.S249S WDR45L_uc002kfr.2_RNA NM_019613 NP_062559 Q5MNZ6 WIPI3_HUMAN WDR45-like 249 WD 2. autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 Breast(20;0.00106)|all_neural(118;0.0952) all_cancers(8;0.101)|all_epithelial(8;0.198) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835) TGCCGTGGTCGCTGGATACGC 0.517 14 50 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6943296 6943296 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr18:6943296T>C uc002knm.2 - 62 9044 c.8950A>G c.(8950-8952)AAA>GAA p.K2984E LAMA1_uc002knk.2_Missense_Mutation_p.K314E|LAMA1_uc002knl.2_Missense_Mutation_p.K437E|LAMA1_uc010wzj.1_Missense_Mutation_p.K2460E NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2984 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTTTGCTTTTGTTAGCTTGA 0.488 46 154 --- --- --- --- PASS PPP4R1 9989 broad.mit.edu 37 18 9557338 9557338 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr18:9557338C>A uc002koe.1 - 15 2189 c.2071G>T c.(2071-2073)GCA>TCA p.A691S PPP4R1_uc002kof.2_Missense_Mutation_p.A108S|PPP4R1_uc010wzo.1_Missense_Mutation_p.A537S|PPP4R1_uc002kod.1_Missense_Mutation_p.A674S NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 691 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 AGAATAACTGCAAGCTCGTGG 0.388 208 55 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 18 14183733 14183733 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr18:14183733T>C uc010xag.1 + 2 584 c.286T>C c.(286-288)TAT>CAT p.Y96H uc002ksv.1_5'Flank RecName: Full=Putative ankyrin repeat domain-containing protein 20A5; GATTGATATCTATGACAAAGA 0.378 33 157 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31323871 31323871 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr18:31323871C>T uc010dmg.1 + 12 4114 c.4059C>T c.(4057-4059)CTC>CTT p.L1353L ASXL3_uc002kxq.2_Silent_p.L1060L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1353 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TGCCAAACCTCTCCACTAGCT 0.453 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 218 78 --- --- --- --- PASS CDH20 28316 broad.mit.edu 37 18 59206307 59206307 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr18:59206307G>T uc010dps.1 + 8 1471 c.1459G>T c.(1459-1461)GTG>TTG p.V487L CDH20_uc002lif.2_Missense_Mutation_p.V481L NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 487 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) AGTCTTAGATGTGAATGACAA 0.463 154 48 --- --- --- --- PASS SERPINB13 5275 broad.mit.edu 37 18 61256064 61256064 + Nonsense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr18:61256064G>T uc002ljc.2 + 2 331 c.163G>T c.(163-165)GAG>TAG p.E55* SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Nonsense_Mutation_p.E55*|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 55 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 CCAGTTGGAGGAGGTTGGGCG 0.527 4 78 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9578078 9578078 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:9578078G>A uc002mlp.1 - 10 1755 c.1545C>T c.(1543-1545)CCC>CCT p.P515P ZNF560_uc010dwr.1_Silent_p.P409P NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 AACACTTAAAGGGCTTCTCAC 0.408 128 41 --- --- --- --- PASS ZNF121 7675 broad.mit.edu 37 19 9677376 9677376 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:9677376T>G uc010xkp.1 - 4 645 c.413A>C c.(412-414)CAT>CCT p.H138P ZNF121_uc010dwt.2_Missense_Mutation_p.H138P|ZNF121_uc010xkq.1_Missense_Mutation_p.H138P NM_001008727 NP_001008727 P58317 ZN121_HUMAN zinc finger protein 121 138 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCTACAGTATGCATTTTAAC 0.388 31 17 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10602473 10602473 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:10602473C>G uc002moq.1 - 3 1261 c.1105G>C c.(1105-1107)GTG>CTG p.V369L KEAP1_uc002mop.1_Missense_Mutation_p.V87L|KEAP1_uc002mor.1_Missense_Mutation_p.V369L NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 369 Kelch 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCGCCCACCACGCAGCCGGCC 0.677 6 2 --- --- --- --- PASS KANK2 25959 broad.mit.edu 37 19 11280921 11280921 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:11280921C>G uc010dxv.2 - 13 2773 c.2215G>C c.(2215-2217)GGA>CGA p.G739R KANK2_uc002mqm.2_Missense_Mutation_p.G747R|KANK2_uc002mqo.3_Missense_Mutation_p.G739R|KANK2_uc002mqp.1_Missense_Mutation_p.G548R NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 739 ANK 3. 0 GCCGTCTGTCCTGCCTGGGGA 0.612 22 10 --- --- --- --- PASS PRKCSH 5589 broad.mit.edu 37 19 11547248 11547248 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:11547248C>G uc002mrt.2 + 3 454 c.118C>G c.(118-120)CTG>GTG p.L40V CCDC151_uc002mrs.2_5'Flank|CCDC151_uc010dxz.2_5'Flank|PRKCSH_uc002mru.2_Missense_Mutation_p.L40V|PRKCSH_uc010xlz.1_Missense_Mutation_p.L40V|PRKCSH_uc010dya.2_Silent_p.A8A|PRKCSH_uc002mrv.1_Missense_Mutation_p.L40V|PRKCSH_uc010dyb.2_Missense_Mutation_p.L40V NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 40 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 TTTCACCTGCCTGGACGGTTC 0.532 43 14 --- --- --- --- PASS ZNF443 10224 broad.mit.edu 37 19 12542492 12542492 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:12542492C>A uc002mtu.2 - 4 692 c.494G>T c.(493-495)GGA>GTA p.G165V NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 165 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 TGGTTTCTTTCCAGTGTGAAG 0.428 100 46 --- --- --- --- PASS MAST1 22983 broad.mit.edu 37 19 12963060 12963060 + Silent SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:12963060A>T uc002mvm.2 + 9 1136 c.1008A>T c.(1006-1008)CCA>CCT p.P336P MAST1_uc002mvk.2_Silent_p.P332P NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 336 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 ACCCCTTTCCAGGTGCCGGCT 0.662 26 13 --- --- --- --- PASS KLHL26 55295 broad.mit.edu 37 19 18778777 18778777 + Silent SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:18778777G>C uc002njz.1 + 3 597 c.570G>C c.(568-570)CGG>CGC p.R190R NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 190 BACK. ovary(1) 1 TCACCTTCCGGCACTTCCTGC 0.642 24 14 --- --- --- --- PASS ZNF100 163227 broad.mit.edu 37 19 21910245 21910245 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:21910245C>G uc002nqi.2 - 5 1068 c.869G>C c.(868-870)AGA>ACA p.R290T ZNF100_uc002nqh.2_Missense_Mutation_p.R226T NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 290 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCTTCACATCTGTATGGTTT 0.398 42 20 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30935660 30935660 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:30935660C>A uc002nsu.1 + 2 1329 c.1191C>A c.(1189-1191)AAC>AAA p.N397K ZNF536_uc010edd.1_Missense_Mutation_p.N397K NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TCCACCTCAACAAGCTGTCGG 0.612 47 70 --- --- --- --- PASS ZNF382 84911 broad.mit.edu 37 19 37118176 37118176 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:37118176G>T uc002oek.2 + 5 1490 c.1377G>T c.(1375-1377)ACG>ACT p.T459T ZNF382_uc010efa.2_Silent_p.T410T|ZNF382_uc010efb.2_Silent_p.T458T|ZNF382_uc002oel.2_Silent_p.T458T NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 459 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GAATTCACACGGGGGAAAAAC 0.438 32 65 --- --- --- --- PASS ZNF461 92283 broad.mit.edu 37 19 37130209 37130209 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:37130209T>G uc002oem.2 - 6 1266 c.1038A>C c.(1036-1038)GAA>GAC p.E346D ZNF461_uc002oen.2_Missense_Mutation_p.E315D|ZNF461_uc010xtj.1_Missense_Mutation_p.E323D NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 346 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GTCGCAGGTGTTCAGTAAGTT 0.393 8 78 --- --- --- --- PASS CATSPERG 57828 broad.mit.edu 37 19 38860826 38860826 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:38860826C>G uc002oih.3 + 28 3228 c.3141C>G c.(3139-3141)AAC>AAG p.N1047K CATSPERG_uc002oig.3_Missense_Mutation_p.N1007K|CATSPERG_uc002oif.3_Missense_Mutation_p.N687K|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 1047 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 CCTACTGCAACTACCAGCTCA 0.617 5 59 --- --- --- --- PASS PAPL 390928 broad.mit.edu 37 19 39589135 39589135 + Nonsense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:39589135G>A uc002oki.2 + 3 433 c.159G>A c.(157-159)TGG>TGA p.W53* PAPL_uc010egl.2_Nonsense_Mutation_p.W53* NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN iron/zinc purple acid phosphatase-like protein 53 extracellular region acid phosphatase activity|metal ion binding 0 GGACCACATGGGTCCCAACCC 0.647 17 64 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40357380 40357380 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:40357380C>A uc002omp.3 - 34 15941 c.15933G>T c.(15931-15933)GTG>GTT p.V5311V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5311 VWFD 13. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AACTTACCCACACACCCTTGT 0.527 30 52 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40368654 40368654 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:40368654T>C uc002omp.3 - 28 12702 c.12694A>G c.(12694-12696)AAT>GAT p.N4232D NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4232 VWFD 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGTGTGCCATTAGGGAAGACC 0.642 28 245 --- --- --- --- PASS CYP2F1 1572 broad.mit.edu 37 19 41630695 41630695 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:41630695A>T uc002opu.1 + 8 1092 c.1036A>T c.(1036-1038)ATG>TTG p.M346L CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 346 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 CCGCGCGGCCATGCCTTACAC 0.677 7 17 --- --- --- --- PASS PSG7 5676 broad.mit.edu 37 19 43439811 43439811 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:43439811G>C uc002ovl.3 - 2 277 c.175C>G c.(175-177)CCC>GCC p.P59A PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 59 Ig-like V-type. female pregnancy extracellular region 0 Prostate(69;0.00682) AGATTCTGGGGCAAATTGTGG 0.448 109 204 --- --- --- --- PASS PSG6 5675 broad.mit.edu 37 19 43585288 43585288 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:43585288G>C uc002ovi.2 - 2 268 c.175C>G c.(175-177)CCC>GCC p.P59A PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.P59A|PSG2_uc002ovq.3_Missense_Mutation_p.P59A|PSG2_uc010eiq.1_Missense_Mutation_p.P59A|PSG2_uc002ovs.3_Missense_Mutation_p.P59A|PSG2_uc002ovt.3_Missense_Mutation_p.P59A Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; 59 Ig-like V-type. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) AGATTCTGGGGCAAATTGTGG 0.448 7 308 --- --- --- --- PASS ZNF230 7773 broad.mit.edu 37 19 44514667 44514667 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:44514667A>T uc002oyb.1 + 5 727 c.476A>T c.(475-477)CAG>CTG p.Q159L NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 159 KRNB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) GATCCTCCTCAGCAGTTCCAC 0.433 95 154 --- --- --- --- PASS PNMAL2 57469 broad.mit.edu 37 19 46998642 46998642 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:46998642C>A uc002pes.2 - 1 528 c.81G>T c.(79-81)CCG>CCT p.P27P uc002peu.1_3'UTR NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 27 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ccaggccctccgggatgccgg 0.065 29 35 --- --- --- --- PASS PRKD2 25865 broad.mit.edu 37 19 47207526 47207526 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:47207526C>A uc002pfh.2 - 6 1131 c.789G>T c.(787-789)GTG>GTT p.V263V PRKD2_uc002pfg.2_Silent_p.V106V|PRKD2_uc002pfi.2_Silent_p.V263V|PRKD2_uc002pfj.2_Silent_p.V263V|PRKD2_uc010xye.1_Silent_p.V263V|PRKD2_uc002pfk.2_Silent_p.V106V NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 263 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) AGGTGTGCGGCACCTTGACCT 0.597 OREG0025578 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 48 --- --- --- --- PASS GRIN2D 2906 broad.mit.edu 37 19 48908234 48908234 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:48908234C>A uc002pjc.3 + 3 797 c.709C>A c.(709-711)CGC>AGC p.R237S NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 237 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TGCCCAGCTCCGCAGTGTCAG 0.692 32 49 --- --- --- --- PASS GRIN2D 2906 broad.mit.edu 37 19 48922880 48922880 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:48922880T>C uc002pjc.3 + 9 1988 c.1900T>C c.(1900-1902)TGG>CGG p.W634R GRIN2D_uc010elx.2_5'UTR NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 634 Cytoplasmic (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GAAATCCATCTGGCTGCTCTG 0.572 39 64 --- --- --- --- PASS DBP 1628 broad.mit.edu 37 19 49136751 49136751 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:49136751G>C uc002pjx.3 - 3 1100 c.712C>G c.(712-714)CAG>GAG p.Q238E DBP_uc002pjy.2_3'UTR|DBP_uc010elz.1_Missense_Mutation_p.Q238E NM_001352 NP_001343 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) 238 Pro-rich (proline/acidic region (PAR)). regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) ATGATTGGCTGGGGCTTAAGT 0.537 100 494 --- --- --- --- PASS TEAD2 8463 broad.mit.edu 37 19 49863137 49863137 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:49863137G>A uc002pnj.2 - 2 287 c.196C>T c.(196-198)CGG>TGG p.R66W TEAD2_uc002png.2_Missense_Mutation_p.R66W|TEAD2_uc002pnh.2_Missense_Mutation_p.R66W|TEAD2_uc002pni.2_Missense_Mutation_p.R66W|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Missense_Mutation_p.R66W NM_003598 NP_003589 Q15562 TEAD2_HUMAN TEA domain family member 2 66 TEA. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) ATTATTTTCCGGCGGCCGCAG 0.557 38 119 --- --- --- --- PASS IL4I1 259307 broad.mit.edu 37 19 50393834 50393834 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:50393834C>A uc002pqt.1 - 8 875 c.797G>T c.(796-798)TGG>TTG p.W266L IL4I1_uc002pqv.1_Missense_Mutation_p.W275L|IL4I1_uc010eno.1_Missense_Mutation_p.W274L|IL4I1_uc002pqw.1_Missense_Mutation_p.W274L|IL4I1_uc002pqu.1_Missense_Mutation_p.W288L NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 isoform 1 precursor 266 lysosome L-amino-acid oxidase activity lung(1)|ovary(1)|prostate(1) 3 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) CAGCAGGTCCCAGCCACCCAC 0.736 4 3 --- --- --- --- PASS LRRC4B 94030 broad.mit.edu 37 19 51021381 51021381 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:51021381G>A uc002pss.2 - 3 1726 c.1589C>T c.(1588-1590)GCG>GTG p.A530V NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 530 Gly-rich.|Extracellular (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) AGGGCCGGCCGCGTCCCCAGG 0.736 5 5 --- --- --- --- PASS CLEC11A 6320 broad.mit.edu 37 19 51226814 51226814 + Missense_Mutation SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:51226814T>A uc002psy.2 + 1 210 c.32T>A c.(31-33)GTG>GAG p.V11E NM_002975 NP_002966 Q9Y240 CLC11_HUMAN stem cell growth factor precursor 11 positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GGGGCTTTGGTGGTCCCCCAG 0.418 51 60 --- --- --- --- PASS KLK13 26085 broad.mit.edu 37 19 51559890 51559890 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:51559890C>A uc002pvn.2 - 5 831 c.788G>T c.(787-789)CGA>CTA p.R263L KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.R190L|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.R111L NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN kallikrein 13 precursor 263 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) TTCATATTTTCGGATTGTTTC 0.512 148 228 --- --- --- --- PASS SIGLEC9 27180 broad.mit.edu 37 19 51628465 51628465 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:51628465C>G uc002pvu.2 + 1 301 c.234C>G c.(232-234)AAC>AAG p.N78K SIGLEC9_uc010yct.1_Missense_Mutation_p.N78K NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 78 Extracellular (Potential).|Ig-like V-type. 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) CCACAAACAACCCAGCTCGGG 0.577 28 68 --- --- --- --- PASS SIGLEC10 89790 broad.mit.edu 37 19 51918132 51918132 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:51918132A>T uc002pwo.2 - 8 2177 c.1561T>A c.(1561-1563)TGT>AGT p.C521S SIGLEC10_uc002pwp.2_Missense_Mutation_p.C463S|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Intron|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Intron NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 521 Extracellular (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CAGGCCTCACAGCGGAGCCTG 0.667 36 119 --- --- --- --- PASS ZNF320 162967 broad.mit.edu 37 19 53385123 53385123 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:53385123A>T uc002qag.2 - 4 447 c.256T>A c.(256-258)TGC>AGC p.C86S ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.C32S|ZNF320_uc002qai.2_Missense_Mutation_p.C86S NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TCCTGGGAGCAAAATGCTCCA 0.398 128 200 --- --- --- --- PASS ZNF331 55422 broad.mit.edu 37 19 54080616 54080616 + Nonsense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:54080616G>T uc002qbx.1 + 7 2236 c.802G>T c.(802-804)GAG>TAG p.E268* ZNF331_uc002qby.1_Nonsense_Mutation_p.E268*|ZNF331_uc002qbz.1_Nonsense_Mutation_p.E268*|ZNF331_uc002qca.1_Nonsense_Mutation_p.E268*|ZNF331_uc010eqr.1_Nonsense_Mutation_p.E268*|ZNF331_uc002qcb.1_Nonsense_Mutation_p.E268*|ZNF331_uc002qcc.1_Nonsense_Mutation_p.E268*|ZNF331_uc002qcd.1_Nonsense_Mutation_p.E268* NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) TCATAGTGGGGAGAAGCCTTA 0.428 T ? follicular thyroid adenoma 50 93 --- --- --- --- PASS LILRB2 10288 broad.mit.edu 37 19 54780770 54780770 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:54780770G>A uc002qfb.2 - 10 1640 c.1374C>T c.(1372-1374)CAC>CAT p.H458H LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.H458H|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.H457H|LILRB2_uc010yet.1_Silent_p.H342H NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 458 Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAACCCCCAGGTGCCTTCCCA 0.323 23 34 --- --- --- --- PASS LILRA5 353514 broad.mit.edu 37 19 54823222 54823222 + Silent SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:54823222T>C uc002qfe.2 - 4 441 c.321A>G c.(319-321)ACA>ACG p.T107T LILRA5_uc002qff.2_Silent_p.T95T|LILRA5_uc010yev.1_Silent_p.T107T|LILRA5_uc010yew.1_Silent_p.T95T|LILRA5_uc002qfh.1_Silent_p.T95T|LILRA5_uc002qfg.1_Silent_p.T107T NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 107 Extracellular (Potential).|Ig-like C2-type 1. innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CATGGTGCTCTGTCATGGATG 0.577 134 220 --- --- --- --- PASS KIR3DL1 3811 broad.mit.edu 37 19 55341617 55341617 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:55341617C>A uc002qhk.3 + 9 1285 c.1222C>A c.(1222-1224)CAG>AAG p.Q408K KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.Q333K|KIR3DL1_uc010esf.2_Missense_Mutation_p.Q313K|KIR3DL1_uc010yfo.1_Missense_Mutation_p.Q350K|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 408 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) CGTTTTCACACAGAGAAAAAT 0.498 193 327 --- --- --- --- PASS NCR1 9437 broad.mit.edu 37 19 55418142 55418142 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:55418142A>G uc002qib.2 + 3 370 c.332A>G c.(331-333)AAC>AGC p.N111S NCR1_uc002qic.2_Missense_Mutation_p.N111S|NCR1_uc002qie.2_Missense_Mutation_p.N111S|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 111 Ig-like 1.|Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) GAGCCCAGCAACTTGCTGGAT 0.502 50 79 --- --- --- --- PASS PTPRH 5794 broad.mit.edu 37 19 55715298 55715298 + Silent SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:55715298A>T uc002qjq.2 - 5 811 c.738T>A c.(736-738)ACT>ACA p.T246T PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Silent_p.T253T NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 246 Extracellular (Potential).|Fibronectin type-III 3. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CACCATCTCCAGTGCACTGAA 0.577 65 92 --- --- --- --- PASS BRSK1 84446 broad.mit.edu 37 19 55815127 55815127 + Missense_Mutation SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:55815127G>A uc002qkg.2 + 12 1496 c.1219G>A c.(1219-1221)GAT>AAT p.D407N BRSK1_uc002qkf.2_Missense_Mutation_p.D423N|BRSK1_uc002qkh.2_Missense_Mutation_p.D102N NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 407 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GAGCATCACCGATGCCGGGGG 0.667 29 116 --- --- --- --- PASS ZNF579 163033 broad.mit.edu 37 19 56089943 56089943 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:56089943C>A uc002qlh.2 - 2 1116 c.1063G>T c.(1063-1065)GCG>TCG p.A355S NM_152600 NP_689813 Q8NAF0 ZN579_HUMAN zinc finger protein 579 355 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CCGCACTCCGCCCCCTCGCCC 0.597 2 1 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57325172 57325172 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:57325172G>C uc002qnu.2 - 7 4989 c.4638C>G c.(4636-4638)ATC>ATG p.I1546M ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.I1517M|PEG3_uc002qnv.2_Missense_Mutation_p.I1546M|PEG3_uc002qnw.2_Missense_Mutation_p.I1422M|PEG3_uc002qnx.2_Missense_Mutation_p.I1420M|PEG3_uc010etr.2_Missense_Mutation_p.I1546M NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1546 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGGCACGTTCGATGTAGCCTG 0.517 70 104 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57641313 57641313 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:57641313G>T uc002qny.2 + 4 1626 c.1270G>T c.(1270-1272)GTT>TTT p.V424F NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 424 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTTTGCCCTGTTGTTGCTAA 0.388 92 154 --- --- --- --- PASS ZIK1 284307 broad.mit.edu 37 19 58101882 58101882 + Nonsense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:58101882G>T uc002qpg.2 + 4 800 c.703G>T c.(703-705)GGA>TGA p.G235* ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Nonsense_Mutation_p.G180*|ZIK1_uc002qpi.2_Nonsense_Mutation_p.G222*|ZIK1_uc002qpj.2_Nonsense_Mutation_p.G132* NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGTCTACACTGGAAAAAAGCT 0.468 35 70 --- --- --- --- PASS ZSCAN4 201516 broad.mit.edu 37 19 58189414 58189414 + Missense_Mutation SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr19:58189414A>G uc002qpu.2 + 4 1226 c.529A>G c.(529-531)ACT>GCT p.T177A NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 177 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACCCTCCCAGACTTCCCAAGA 0.438 51 70 --- --- --- --- PASS C20orf141 128653 broad.mit.edu 37 20 2796245 2796245 + Missense_Mutation SNP G C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr20:2796245G>C uc010gat.2 + 3 405 c.322G>C c.(322-324)GGT>CGT p.G108R C20orf141_uc002wgv.1_Intron|C20orf141_uc002wgw.2_Missense_Mutation_p.G108R|uc002wgx.1_5'Flank|uc002wgy.1_5'Flank NM_080739 NP_542777 Q9NUB4 CT141_HUMAN hypothetical protein LOC128653 108 Leu-rich. integral to membrane 0 TCAGGGGGCCGGTGAAGGTCC 0.607 29 18 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20232368 20232368 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr20:20232368C>A uc002wru.2 + 20 2365 c.2289C>A c.(2287-2289)CCC>CCA p.P763P C20orf26_uc010zse.1_Silent_p.P743P|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Silent_p.P119P NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 763 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) AGATCGTGCCCTACGACCACC 0.587 121 79 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31024449 31024449 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr20:31024449G>T uc002wxs.2 + 12 4360 c.3934G>T c.(3934-3936)GCA>TCA p.A1312S ASXL1_uc010geb.2_Missense_Mutation_p.A1203S NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1312 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.A1312V(1) haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GAATGTGGCTGCAACCCTTCA 0.567 F|N|Mis MDS|CMML 30 81 --- --- --- --- PASS GDF5 8200 broad.mit.edu 37 20 34021838 34021838 + Nonsense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr20:34021838C>A uc002xck.1 - 2 1694 c.1375G>T c.(1375-1377)GAG>TAG p.E459* GDF5_uc010gfc.1_Nonsense_Mutation_p.E459*|uc002xcj.2_Silent_p.L83L|GDF5_uc010zvc.1_Nonsense_Mutation_p.E459* NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 459 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGTGTGGACTCGGGGTCCATG 0.582 42 35 --- --- --- --- PASS ZNF335 63925 broad.mit.edu 37 20 44592562 44592562 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr20:44592562C>A uc002xqw.2 - 8 1293 c.1170G>T c.(1168-1170)GAG>GAT p.E390D ZNF335_uc010zxk.1_Missense_Mutation_p.E235D NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) AGCTGGGAGCCTCGGGATCCT 0.627 52 30 --- --- --- --- PASS RBM38 55544 broad.mit.edu 37 20 55966871 55966871 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr20:55966871C>T uc010zzj.1 + 1 409 c.234C>T c.(232-234)GGC>GGT p.G78G RBM38_uc010zzk.1_Silent_p.G78G NM_017495 NP_059965 Q9H0Z9 RBM38_HUMAN RNA-binding region containing protein 1 isoform 78 RRM. 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|cytosol|nucleus|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding 0 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) GCGGCTACGGCTTCGTAAGTg 0.552 5 3 --- --- --- --- PASS KCNQ2 3785 broad.mit.edu 37 20 62065179 62065179 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr20:62065179G>T uc002yey.1 - 8 1278 c.1101C>A c.(1099-1101)GTC>GTA p.V367V KCNQ2_uc002yez.1_Silent_p.V367V|KCNQ2_uc002yfa.1_Silent_p.V367V|KCNQ2_uc002yfb.1_Silent_p.V367V|KCNQ2_uc011aax.1_Silent_p.V367V|KCNQ2_uc002yfc.1_Silent_p.V367V NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 367 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TGGGCACGGTGACCGTTCGCT 0.542 113 61 --- --- --- --- PASS NCRNA00176 284739 broad.mit.edu 37 20 62669721 62669721 + RNA SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr20:62669721G>T uc002yhq.2 + 3 c.3843G>T NCRNA00176_uc011abq.1_Intron|NCRNA00176_uc010gko.2_Intron NR_027686 Homo sapiens cDNA FLJ27267 fis, clone TMS00367. 0 gggccgccgcggggcccTGGA 0.557 5 11 --- --- --- --- PASS PCMTD2 55251 broad.mit.edu 37 20 62896781 62896781 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr20:62896781A>T uc002yil.3 + 4 781 c.581A>T c.(580-582)AAG>ATG p.K194M PCMTD2_uc002yim.3_Missense_Mutation_p.K194M NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) 194 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CTGGAAGAGAAGGTCAGATTC 0.284 54 38 --- --- --- --- PASS LIPI 149998 broad.mit.edu 37 21 15554143 15554143 + Silent SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr21:15554143T>A uc002yjm.2 - 4 652 c.642A>T c.(640-642)CCA>CCT p.P214P LIPI_uc010gkw.1_Silent_p.P147P NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 193 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGCTATATGGTGGTTTTCTGG 0.398 41 29 --- --- --- --- PASS CLDN17 26285 broad.mit.edu 37 21 31538288 31538288 + Silent SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr21:31538288A>T uc011acv.1 - 1 648 c.648T>A c.(646-648)CTT>CTA p.L216L NM_012131 NP_036263 P56750 CLD17_HUMAN claudin 17 216 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity ovary(2) 2 AGGTCTTACTAAGCATTGTCG 0.433 50 130 --- --- --- --- PASS KRTAP13-1 140258 broad.mit.edu 37 21 31768854 31768854 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr21:31768854C>T uc002yoa.2 + 1 463 c.450C>T c.(448-450)ACC>ACT p.T150T NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 150 intermediate filament ovary(1) 1 GCCGCCCAACCTACTTGGCTT 0.517 15 34 --- --- --- --- PASS KRTAP19-5 337972 broad.mit.edu 37 21 31874249 31874249 + Nonsense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr21:31874249C>A uc011ada.1 - 1 160 c.160G>T c.(160-162)GGA>TGA p.G54* NM_181611 NP_853642 Q3LI72 KR195_HUMAN keratin associated protein 19-5 54 intermediate filament protein binding 0 CTGCGGTATCCATAGCCTCCG 0.537 64 78 --- --- --- --- PASS KRTAP19-5 337972 broad.mit.edu 37 21 31874250 31874250 + Nonsense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr21:31874250A>T uc011ada.1 - 1 159 c.159T>A c.(157-159)TAT>TAA p.Y53* NM_181611 NP_853642 Q3LI72 KR195_HUMAN keratin associated protein 19-5 53 intermediate filament protein binding 0 TGCGGTATCCATAGCCTCCGA 0.537 64 80 --- --- --- --- PASS RIPK4 54101 broad.mit.edu 37 21 43161307 43161307 + Silent SNP G A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr21:43161307G>A uc002yzn.1 - 8 2094 c.2046C>T c.(2044-2046)CAC>CAT p.H682H NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 682 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 CAGTGGCCAGGTGTCCGTTGC 0.682 40 118 --- --- --- --- PASS C21orf29 54084 broad.mit.edu 37 21 45987776 45987776 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr21:45987776G>T uc002zfe.1 - 2 262 c.196C>A c.(196-198)CCC>ACC p.P66T C21orf29_uc010gpv.1_5'UTR NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 66 cell adhesion extracellular region structural molecule activity 0 ATGGTGCGGGGGGCGGCTACT 0.562 46 63 --- --- --- --- PASS MCM3AP 8888 broad.mit.edu 37 21 47676828 47676828 + Nonsense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr21:47676828G>T uc002zir.1 - 17 3843 c.3807C>A c.(3805-3807)TGC>TGA p.C1269* MCM3AP_uc002zip.1_Nonsense_Mutation_p.C10*|MCM3AP_uc002ziq.1_Nonsense_Mutation_p.C196* NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1269 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) TCACGTCCACGCAGCAGGGCG 0.642 11 15 --- --- --- --- PASS CDC45 8318 broad.mit.edu 37 22 19483537 19483537 + Silent SNP A G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr22:19483537A>G uc002zpr.2 + 7 652 c.576A>G c.(574-576)GAA>GAG p.E192E CDC45_uc011agz.1_Silent_p.E187E|CDC45_uc011aha.1_Silent_p.E224E|CDC45_uc002zps.2_Silent_p.E192E|CDC45_uc002zpt.2_Silent_p.E146E NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 192 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 AGCAGTATGAATATCATGGGA 0.368 450 126 --- --- --- --- PASS GGT1 2678 broad.mit.edu 37 22 25010801 25010801 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr22:25010801G>T uc003aan.1 + 6 710 c.223G>T c.(223-225)GTG>TTG p.V75L GGT1_uc003aas.1_Missense_Mutation_p.V75L|GGT1_uc003aat.1_Missense_Mutation_p.V75L|GGT1_uc003aau.1_Missense_Mutation_p.V75L|GGT1_uc003aav.1_Missense_Mutation_p.V75L|GGT1_uc003aaw.1_Missense_Mutation_p.V75L|GGT1_uc003aax.1_Missense_Mutation_p.V75L NM_013430 NP_038347 P19440 GGT1_HUMAN gamma-glutamyltransferase 1 precursor 75 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding 0 Glutathione(DB00143) CCTGTTGTGTGTGGGGCTCAT 0.607 44 25 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26342180 26342180 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr22:26342180C>G uc003abz.1 + 35 5845 c.5595C>G c.(5593-5595)CAC>CAG p.H1865Q MYO18B_uc003aca.1_Missense_Mutation_p.H1746Q|MYO18B_uc010guy.1_Missense_Mutation_p.H1747Q|MYO18B_uc010guz.1_Missense_Mutation_p.H1745Q|MYO18B_uc011aka.1_Missense_Mutation_p.H1019Q|MYO18B_uc011akb.1_Missense_Mutation_p.H1378Q NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1865 Tail.|Potential. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 AGAGCATGCACAGCGAGCTGG 0.597 2 4 --- --- --- --- PASS CRYBA4 1413 broad.mit.edu 37 22 27024391 27024391 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr22:27024391G>T uc003acz.3 + 5 475 c.440G>T c.(439-441)GGG>GTG p.G147V NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 147 Beta/gamma crystallin 'Greek key' 4. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 GTCCACTCTGGGGCGTAAGTG 0.557 34 45 --- --- --- --- PASS EMID1 129080 broad.mit.edu 37 22 29628307 29628307 + Nonsense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr22:29628307G>T uc003aen.2 + 8 808 c.733G>T c.(733-735)GGA>TGA p.G245* EMID1_uc003aem.2_Nonsense_Mutation_p.G247*|EMID1_uc003aeo.2_Nonsense_Mutation_p.G247*|EMID1_uc003aep.2_Nonsense_Mutation_p.G247* NM_133455 NP_597712 Q96A84 EMID1_HUMAN EMI domain containing 1 245 Collagen-like. collagen 0 TGGAGAGAGGGGACCTCCTGG 0.697 24 18 --- --- --- --- PASS THOC5 8563 broad.mit.edu 37 22 29917005 29917005 + Missense_Mutation SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr22:29917005T>G uc003afr.2 - 14 1594 c.1259A>C c.(1258-1260)TAT>TCT p.Y420S THOC5_uc003afq.2_Missense_Mutation_p.Y81S|THOC5_uc003afs.2_Missense_Mutation_p.Y420S|THOC5_uc003aft.2_Missense_Mutation_p.Y420S|THOC5_uc003afu.2_Missense_Mutation_p.Y420S|THOC5_uc010gvo.2_Missense_Mutation_p.Y164S NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 420 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 ATCAAACTGATACTGATTGGC 0.458 52 178 --- --- --- --- PASS ISX 91464 broad.mit.edu 37 22 35478551 35478551 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr22:35478551C>A uc003anj.2 + 2 1221 c.270C>A c.(268-270)ACC>ACA p.T90T ISX_uc011amg.1_Silent_p.T78T NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 90 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 CCACCTTCACCACTGAGCAGC 0.567 18 98 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 40080410 40080410 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr22:40080410G>T uc003ayc.2 + 36 5934 c.5934G>T c.(5932-5934)AAG>AAT p.K1978N CACNA1I_uc003ayd.2_Missense_Mutation_p.K1943N|CACNA1I_uc003aye.2_Missense_Mutation_p.K1893N|CACNA1I_uc003ayf.2_Missense_Mutation_p.K1858N NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1978 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCCCAGAAAAGGGCACTGGCA 0.637 7 12 --- --- --- --- PASS ENTHD1 150350 broad.mit.edu 37 22 40139939 40139939 + Missense_Mutation SNP C G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr22:40139939C>G uc003ayg.2 - 7 1820 c.1569G>C c.(1567-1569)CAG>CAC p.Q523H NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 523 ovary(2)|skin(1) 3 Melanoma(58;0.0749) GAGGGATGAACTGGTCTACAT 0.408 19 50 --- --- --- --- PASS BRD1 23774 broad.mit.edu 37 22 50216868 50216868 + Silent SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr22:50216868G>T uc003biv.2 - 1 1585 c.1098C>A c.(1096-1098)CCC>CCA p.P366P BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.P366P|BRD1_uc011arh.1_Silent_p.P366P|BRD1_uc003biu.3_Silent_p.P366P NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 366 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GTTCCTTCACGGGCTCCATTT 0.577 67 86 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3235239 3235239 + Silent SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:3235239T>C uc004crg.3 - 6 6640 c.6483A>G c.(6481-6483)GGA>GGG p.G2161G NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2161 Ig-like C2-type 6. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGAGGGTTCCTCCGTACCTGA 0.687 5 2 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3238595 3238595 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:3238595T>C uc004crg.3 - 5 5288 c.5131A>G c.(5131-5133)AGA>GGA p.R1711G NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1711 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) ACTGGGTTTCTTGCCTCAGGG 0.433 18 106 --- --- --- --- PASS MAGEB6 158809 broad.mit.edu 37 X 26212413 26212413 + Silent SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:26212413A>T uc004dbr.2 + 2 599 c.450A>T c.(448-450)GGA>GGT p.G150G MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 150 Ser-rich. ovary(3) 3 AGTCTCAGGGAGCTTCACCCA 0.517 18 9 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29972727 29972727 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:29972727C>A uc004dby.2 + 10 1798 c.1290C>A c.(1288-1290)GCC>GCA p.A430A NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 430 Cytoplasmic (Potential).|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 AACGTTTTGCCCTTGAAATCC 0.348 28 16 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29972728 29972728 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:29972728C>A uc004dby.2 + 10 1799 c.1291C>A c.(1291-1293)CTT>ATT p.L431I NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 431 Cytoplasmic (Potential).|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 ACGTTTTGCCCTTGAAATCCT 0.348 29 16 --- --- --- --- PASS MAGEB1 4112 broad.mit.edu 37 X 30269642 30269642 + Silent SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:30269642C>A uc004dcc.2 + 4 1352 c.1032C>A c.(1030-1032)TCC>TCA p.S344S MAGEB1_uc004dcd.2_Silent_p.S344S|MAGEB1_uc004dce.2_Silent_p.S344S NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 344 0 GCAGGTCCTCCCACCCCATGT 0.512 12 8 --- --- --- --- PASS MAGEB1 4112 broad.mit.edu 37 X 30269643 30269643 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:30269643C>A uc004dcc.2 + 4 1353 c.1033C>A c.(1033-1035)CAC>AAC p.H345N MAGEB1_uc004dcd.2_Missense_Mutation_p.H345N|MAGEB1_uc004dce.2_Missense_Mutation_p.H345N NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 345 0 CAGGTCCTCCCACCCCATGTG 0.512 13 8 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37026573 37026573 + Silent SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:37026573C>T uc004ddl.1 + 1 104 c.90C>T c.(88-90)TTC>TTT p.F30F NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 30 ovary(3) 3 CCAAGTACTTCGCGAAGCGCA 0.642 11 19 --- --- --- --- PASS WDR13 64743 broad.mit.edu 37 X 48463413 48463413 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:48463413A>T uc004dkh.1 + 10 1598 c.1451A>T c.(1450-1452)CAG>CTG p.Q484L WDR13_uc004dki.1_Missense_Mutation_p.Q392L|WDR13_uc004dkj.1_Missense_Mutation_p.Q484L|WDR13_uc004dkk.1_Missense_Mutation_p.Q392L|WDR13_uc004dkl.3_Missense_Mutation_p.Q392L NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 484 WD 5. cytoplasm|nucleus ovary(2) 2 AGGCGGGAGCAGAAGTAGGGT 0.602 15 7 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73062809 73062809 + RNA SNP T A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:73062809T>A uc004ebm.1 - 1 c.9780A>T NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 TACCTGTGATTTTACACACTG 0.453 58 9 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73963708 73963708 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:73963708C>A uc004eby.2 - 3 1301 c.684G>T c.(682-684)GAG>GAT p.E228D NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 228 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GAGCCGGATCCTCCAAGTCAA 0.478 116 45 --- --- --- --- PASS P2RY10 27334 broad.mit.edu 37 X 78216657 78216657 + Missense_Mutation SNP A T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:78216657A>T uc004ede.2 + 4 1009 c.640A>T c.(640-642)ATC>TTC p.I214F P2RY10_uc004edf.2_Missense_Mutation_p.I214F NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 214 Helical; Name=5; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 AGTGATCATCATCGCATGGTG 0.473 40 24 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79286062 79286062 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:79286062C>A uc010nmg.1 + 9 1149 c.1015C>A c.(1015-1017)CTT>ATT p.L339I TBX22_uc004edi.1_Missense_Mutation_p.L219I|TBX22_uc004edj.1_Missense_Mutation_p.L339I NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 339 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 GAACTCCTTACTTTCTCCACT 0.483 106 27 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91066259 91066259 + Translation_Start_Site SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:91066259C>A uc004efh.1 + 3 510 c.-79C>A c.(-81--77)GACTG>GAATG NM_032967 NP_116749 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform b precursor homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ACTATGAGGACTGAACGACAG 0.388 43 15 --- --- --- --- PASS TNMD 64102 broad.mit.edu 37 X 99854605 99854605 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:99854605C>A uc004efy.3 + 7 1071 c.845C>A c.(844-846)CCT>CAT p.P282H TNMD_uc004efz.2_3'UTR NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN tenomodulin 282 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 GTCTGTGAACCTTTACTAGGC 0.502 23 9 --- --- --- --- PASS SRPX2 27286 broad.mit.edu 37 X 99917334 99917334 + Missense_Mutation SNP C T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:99917334C>T uc004egb.2 + 4 805 c.325C>T c.(325-327)CGT>TGT p.R109C NM_014467 NP_055282 O60687 SRPX2_HUMAN sushi-repeat-containing protein, X-linked 2 109 Sushi 1. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding ovary(2) 2 CCTGCCAAGCCGTCGTTGGTC 0.557 35 42 --- --- --- --- PASS GLA 2717 broad.mit.edu 37 X 100656649 100656649 + Missense_Mutation SNP T C C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:100656649T>C uc004ehl.1 - 3 628 c.518A>G c.(517-519)TAC>TGC p.Y173C GLA_uc011mrj.1_Missense_Mutation_p.Y173C NM_000169 NP_000160 P06280 AGAL_HUMAN alpha-galactosidase A precursor 173 glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding 0 Agalsidase beta(DB00103) ACTGTCACAGTAACAACCATC 0.443 55 94 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123654451 123654451 + Missense_Mutation SNP C A A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:123654451C>A uc004euj.2 - 18 3281 c.3217G>T c.(3217-3219)GCC>TCC p.A1073S ODZ1_uc011muj.1_Missense_Mutation_p.A1072S|ODZ1_uc010nqy.2_Missense_Mutation_p.A1073S NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1073 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TTAATTGCGGCGGGAAACCAC 0.473 119 14 --- --- --- --- PASS MAGEA11 4110 broad.mit.edu 37 X 148797279 148797279 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:148797279G>T uc004fdq.2 + 4 310 c.208G>T c.(208-210)GCC>TCC p.A70S HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.A41S NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 70 cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TAGAGAACAGGCCAACCTGGA 0.507 82 23 --- --- --- --- PASS TKTL1 8277 broad.mit.edu 37 X 153556267 153556267 + Missense_Mutation SNP G T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrX:153556267G>T uc004fkg.2 + 12 1767 c.1581G>T c.(1579-1581)GAG>GAT p.E527D TKTL1_uc011mzl.1_Missense_Mutation_p.E521D|TKTL1_uc011mzm.1_Missense_Mutation_p.E323D|TKTL1_uc004fkh.2_Missense_Mutation_p.E471D NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 527 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGCCACAGAGGGCCGGATCA 0.473 176 34 --- --- --- --- PASS RPS4Y2 140032 broad.mit.edu 37 Y 22918696 22918696 + Silent SNP T G G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chrY:22918696T>G uc011nbb.1 + 2 132 c.36T>G c.(34-36)GTT>GTG p.V12V NM_001039567 NP_001034656 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 12 translation ribosome rRNA binding|structural constituent of ribosome 0 TGAAGCGTGTTGCAGCGCCGA 0.433 45 6 --- --- --- --- PASS CHD5 26038 broad.mit.edu 37 1 6206386 6206386 + Frame_Shift_Del DEL C - - TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr1:6206386delC uc001amb.1 - 11 1788 c.1688delG c.(1687-1689)GGCfs p.G563fs CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 563 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTCGCTCTTGCCGTCTTCATC 0.542 71 76 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179446298 179446299 + Frame_Shift_Del DEL AC - - TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr2:179446298_179446299delAC uc010zfg.1 - 265 59216_59217 c.58992_58993delGT c.(58990-58995)GTGTATfs p.V19664fs uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.V13359fs|TTN_uc010zfi.1_Frame_Shift_Del_p.V13292fs|TTN_uc010zfj.1_Frame_Shift_Del_p.V13167fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20591_20592 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) TTAACGGCATACACACGGAATT 0.441 71 33 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113353775 113353775 + Frame_Shift_Del DEL G - - TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr8:113353775delG uc003ynu.2 - 42 6742 c.6583delC c.(6583-6585)CATfs p.H2195fs CSMD3_uc003yns.2_Frame_Shift_Del_p.H1397fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.H2155fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.H2091fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2195 Extracellular (Potential).|CUB 12. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTGGTTTCATGGGTGGTGCTG 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 73 137 --- --- --- --- CNOT1 23019 broad.mit.edu 37 16 58622794 58622794 + Frame_Shift_Del DEL C - - TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:58622794delC uc002env.2 - 3 412 c.119delG c.(118-120)GGTfs p.G40fs CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.G40fs|CNOT1_uc002enx.2_Frame_Shift_Del_p.G40fs|CNOT1_uc002enz.1_5'UTR NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 40 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGCCTCAGGACCGTGCCGATT 0.373 18 32 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 70902623 70902624 + Frame_Shift_Ins INS - T T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr16:70902623_70902624insT uc002ezr.2 - 66 11284_11285 c.11156_11157insA c.(11155-11157)AACfs p.N3719fs HYDIN_uc010cfy.2_5'Flank NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3720 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TATTCTTTAGGTTGATGGGTAC 0.510 29 74 --- --- --- --- MAPT 4137 broad.mit.edu 37 17 44039763 44039763 + Frame_Shift_Del DEL G - - TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 472c95e6-eccb-4988-be16-fdace73b2ed8 ff4f5936-f847-42ad-aedf-6a6a7fff6002 g.chr17:44039763delG uc002ijr.3 + 2 380 c.60delG c.(58-60)TTGfs p.L20fs MAPT_uc010dau.2_Frame_Shift_Del_p.L20fs|MAPT_uc002ijs.3_Frame_Shift_Del_p.L20fs|MAPT_uc002ijx.3_Frame_Shift_Del_p.L20fs|MAPT_uc002ijt.3_Frame_Shift_Del_p.L20fs|MAPT_uc002iju.3_Frame_Shift_Del_p.L20fs|MAPT_uc002ijv.3_Frame_Shift_Del_p.L20fs NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 20 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CGTACGGGTTGGGGGACAGGA 0.577 37 27 --- --- --- ---