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 CHD5 26038 broad.mit.edu 37 1 6196612 6196612 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:6196612G>A uc001amb.1 - 17 2761 c.2661C>T c.(2659-2661)TTC>TTT p.F887F CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 887 Helicase ATP-binding. 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) TGAGGAGATGGAACAGCTCCT 0.542 11 216 --- --- --- --- PASS CA6 765 broad.mit.edu 37 1 9017275 9017275 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:9017275C>A uc001apm.2 + 3 363 c.339C>A c.(337-339)CAC>CAA p.H113Q CA6_uc009vmn.2_Missense_Mutation_p.H53Q NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 113 Zinc; catalytic. one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|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;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) TGCACTTTCACTGGGGAGGTG 0.592 16 72 --- --- --- --- PASS EXOSC10 5394 broad.mit.edu 37 1 11151198 11151198 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:11151198G>C uc001asa.2 - 5 566 c.516C>G c.(514-516)TTC>TTG p.F172L EXOSC10_uc001asb.2_Missense_Mutation_p.F172L|EXOSC10_uc009vmy.1_Missense_Mutation_p.F172L NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN exosome component 10 isoform 1 172 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding upper_aerodigestive_tract(1) 1 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GAAGCAGCCGGAAAGTTTCAG 0.343 32 225 --- --- --- --- PASS C1QC 714 broad.mit.edu 37 1 22974057 22974057 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:22974057G>A uc001bgc.3 + 3 622 c.519G>A c.(517-519)TCG>TCA p.S173S C1QC_uc001bga.3_Silent_p.S173S|C1QC_uc001bgb.2_Silent_p.S173S NM_172369 NP_758957 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 173 C1q. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen 0 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;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) 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) ACCACGCGTCGCATACAGCCA 0.582 4 112 --- --- --- --- PASS MYOM3 127294 broad.mit.edu 37 1 24400709 24400709 + Nonsense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:24400709G>C uc001bin.3 - 23 3072 c.2909C>G c.(2908-2910)TCA>TGA p.S970* MYOM3_uc001bim.3_Nonsense_Mutation_p.S627*|MYOM3_uc001bio.2_Nonsense_Mutation_p.S970* NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 970 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GACTATGACTGAGTAGGTGCC 0.582 22 90 --- --- --- --- PASS RHCE 6006 broad.mit.edu 37 1 25715488 25715488 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:25715488G>A uc001bkf.2 - 6 1004 c.918C>T c.(916-918)ATC>ATT p.I306I RHCE_uc001bkg.2_Silent_p.I306I|RHCE_uc001bkh.2_Silent_p.I201I|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Silent_p.I290I NM_020485 NP_065231 P18577 RHCE_HUMAN Rhesus blood group, CcEe antigens isoform 1 306 Helical; (Potential). integral to plasma membrane 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) TGGCTCCCCCGATGGAGATCA 0.607 7 43 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27099425 27099425 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:27099425T>C uc001bmv.1 + 14 4035 c.3662T>C c.(3661-3663)ATG>ACG p.M1221T ARID1A_uc001bmt.1_Missense_Mutation_p.M1220T|ARID1A_uc001bmu.1_Missense_Mutation_p.M1221T|ARID1A_uc001bmw.1_Missense_Mutation_p.M838T|ARID1A_uc001bmx.1_Missense_Mutation_p.M67T|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1221 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 p.M1220fs*9(1)|p.M1220fs*2(1) 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) TCTGACATGATGGGGCGCATG 0.473 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 10 79 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 41976541 41976541 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:41976541C>G uc001cgz.3 - 9 8015 c.6802G>C c.(6802-6804)GAG>CAG p.E2268Q HIVEP3_uc001cha.3_Missense_Mutation_p.E2267Q|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 2268 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCCTCCAGCTCTGAGGAGAGT 0.687 10 53 --- --- --- --- PASS PTCH2 8643 broad.mit.edu 37 1 45307547 45307547 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:45307547C>G uc010olf.1 - 2 249 c.237G>C c.(235-237)GAG>GAC p.E79D PTCH2_uc010olg.1_5'UTR NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 79 Extracellular (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) CCAAGTTTGTCTCAATAATGG 0.547 Basal_Cell_Nevus_syndrome 22 132 --- --- --- --- PASS TTC4 7268 broad.mit.edu 37 1 55207145 55207145 + Missense_Mutation SNP A C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:55207145A>C uc001cxx.3 + 10 1176 c.1123A>C c.(1123-1125)AAG>CAG p.K375Q C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Missense_Mutation_p.K276Q|TTC4_uc001cxv.2_Missense_Mutation_p.K386Q NM_004623 NP_004614 O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 375 binding 0 TCCTTTTTGCAAGAATTTTCT 0.488 41 208 --- --- --- --- PASS BSND 7809 broad.mit.edu 37 1 55464892 55464892 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:55464892C>T uc001cye.2 + 1 276 c.33C>T c.(31-33)TTC>TTT p.F11F NM_057176 NP_476517 Q8WZ55 BSND_HUMAN barttin 11 Helical; (Potential). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex ovary(1)|skin(1) 2 GGATCGGCTTCATTGTGCTGG 0.622 9 121 --- --- --- --- PASS DOCK7 85440 broad.mit.edu 37 1 63090929 63090929 + Splice_Site SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:63090929C>A uc001daq.2 - 12 1459 c.1425_splice c.e12+1 p.Q475_splice DOCK7_uc001dan.2_Splice_Site_p.Q367_splice|DOCK7_uc001dao.2_Splice_Site_p.Q367_splice|DOCK7_uc001dap.2_Splice_Site_p.Q475_splice|DOCK7_uc009wah.1_Splice_Site_p.Q475_splice NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 CAGAACAATACCTGCTTAAAA 0.383 31 203 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70257790 70257790 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:70257790C>A uc001dep.2 + 2 284 c.254C>A c.(253-255)CCA>CAA p.P85Q LRRC7_uc001deo.1_Missense_Mutation_p.P123Q|LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 85 LRR 3. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TCAAATCTGCCAACCACTATT 0.294 20 166 --- --- --- --- PASS PTGER3 5733 broad.mit.edu 37 1 71513140 71513140 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:71513140G>C uc001dfg.1 - 1 352 c.121C>G c.(121-123)CCA>GCA p.P41A PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.P41A|PTGER3_uc001dfl.1_Missense_Mutation_p.P41A|PTGER3_uc009wbm.1_Missense_Mutation_p.P41A|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.P41A|PTGER3_uc009wbn.1_Missense_Mutation_p.P41A|PTGER3_uc009wbo.2_Missense_Mutation_p.P41A|PTGER3_uc001dfo.2_Missense_Mutation_p.P41A|PTGER3_uc001dfp.1_Missense_Mutation_p.P41A|PTGER3_uc001dfq.2_Missense_Mutation_p.P41A|uc001dfr.2_RNA NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 41 Extracellular (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) CCAGACCCTGGAGGGCGCGTG 0.677 3 16 --- --- --- --- PASS SLC44A5 204962 broad.mit.edu 37 1 75693535 75693535 + Nonsense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:75693535C>T uc001dgu.2 - 13 1005 c.861G>A c.(859-861)TGG>TGA p.W287* SLC44A5_uc001dgt.2_Nonsense_Mutation_p.W287*|SLC44A5_uc001dgs.2_Nonsense_Mutation_p.W245*|SLC44A5_uc001dgr.2_Nonsense_Mutation_p.W245*|SLC44A5_uc010oqz.1_Nonsense_Mutation_p.W326*|SLC44A5_uc010ora.1_Nonsense_Mutation_p.W281*|SLC44A5_uc010orb.1_Nonsense_Mutation_p.W157* NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 287 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 GGTAACAGTGCCATATTCCTT 0.333 9 55 --- --- --- --- PASS LPHN2 23266 broad.mit.edu 37 1 82409190 82409190 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:82409190C>T uc001dit.3 + 6 1116 c.935C>T c.(934-936)TCA>TTA p.S312L LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.S312L|LPHN2_uc001div.2_Missense_Mutation_p.S312L|LPHN2_uc009wcd.2_Missense_Mutation_p.S312L NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 312 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CGTGCCGCATCAAATGCTTTT 0.383 14 178 --- --- --- --- PASS CCBL2 56267 broad.mit.edu 37 1 89430565 89430565 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:89430565C>T uc001dmp.2 - 5 777 c.400G>A c.(400-402)GCA>ACA p.A134T CCBL2_uc001dmq.2_Missense_Mutation_p.A100T|CCBL2_uc001dmr.2_5'UTR NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 134 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GATCCATATGCTCCTACTGTC 0.328 16 107 --- --- --- --- PASS TGFBR3 7049 broad.mit.edu 37 1 92181880 92181880 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:92181880G>C uc001doh.2 - 12 2245 c.1779C>G c.(1777-1779)TTC>TTG p.F593L TGFBR3_uc009wde.2_Missense_Mutation_p.F370L|TGFBR3_uc010osy.1_Missense_Mutation_p.F551L|TGFBR3_uc001doi.2_Missense_Mutation_p.F592L|TGFBR3_uc001doj.2_Missense_Mutation_p.F592L NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 593 ZP.|Extracellular (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) GCTCCATGTTGAAGGTGATGT 0.493 6 83 --- --- --- --- PASS RPAP2 79871 broad.mit.edu 37 1 92846357 92846357 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:92846357G>A uc001dot.2 + 12 1874 c.1765G>A c.(1765-1767)GAA>AAA p.E589K RPAP2_uc009wdh.2_RNA NM_024813 NP_079089 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 589 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) CACCCTCCTTGAAGAATTACA 0.363 41 200 --- --- --- --- PASS ARHGAP29 9411 broad.mit.edu 37 1 94640064 94640064 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:94640064C>G uc001dqj.3 - 23 3516 c.3147G>C c.(3145-3147)AAG>AAC p.K1049N ARHGAP29_uc009wdq.1_Intron NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 1049 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AGGCAGGATTCTTGCAAAACT 0.378 20 248 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103343604 103343604 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:103343604C>T uc001dul.2 - 67 5710 c.5392G>A c.(5392-5394)GAA>AAA p.E1798K COL11A1_uc001duk.2_Missense_Mutation_p.E994K|COL11A1_uc001dum.2_Missense_Mutation_p.E1810K|COL11A1_uc001dun.2_Missense_Mutation_p.E1759K|COL11A1_uc009weh.2_Missense_Mutation_p.E1682K NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1798 Fibrillar collagen NC1. 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) GGACCAACTTCAAATCCGAAC 0.353 23 152 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103488453 103488453 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:103488453C>T uc001dul.2 - 8 1408 c.1090G>A c.(1090-1092)GAA>AAA p.E364K COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E376K|COL11A1_uc001dun.2_Missense_Mutation_p.E325K|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 364 Nonhelical 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) CCGTCTATTTCTTTGTTTTCA 0.358 19 129 --- --- --- --- PASS PRMT6 55170 broad.mit.edu 37 1 107600266 107600266 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:107600266C>T uc010ous.1 + 1 1000 c.929C>T c.(928-930)TCG>TTG p.S310L NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 310 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) CTGTCCACCTCGCCTTTTCAC 0.607 12 101 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109795405 109795405 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:109795405C>T uc001dxa.3 + 1 2765 c.2704C>T c.(2704-2706)CGC>TGC p.R902C NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 902 Extracellular (Potential).|Cadherin 7. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCCCCCAGCCCGCACACCTAT 0.552 4 105 --- --- --- --- PASS RAP1A 5906 broad.mit.edu 37 1 112246973 112246973 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:112246973G>A uc001ebi.2 + 6 437 c.333G>A c.(331-333)ATG>ATA p.M111I RAP1A_uc001ebk.2_Missense_Mutation_p.M111I|RAP1A_uc001ebl.2_Missense_Mutation_p.M111I|RAP1A_uc001ebm.2_RNA NM_002884 NP_002875 P62834 RAP1A_HUMAN RAP1A, member of RAS oncogene family precursor 111 activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion cytosol|plasma membrane GTP binding|GTPase activity 0 all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021) Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141) AGGTTCCAATGATTTTGGTTG 0.373 17 92 --- --- --- --- PASS TTF2 8458 broad.mit.edu 37 1 117631574 117631574 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:117631574A>G uc001egy.2 + 13 2332 c.2312A>G c.(2311-2313)AAC>AGC p.N771S NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 771 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CCCATTCAAAACAACTTATTG 0.438 31 206 --- --- --- --- PASS HSD3B2 3284 broad.mit.edu 37 1 119962195 119962195 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:119962195C>T uc001ehs.2 + 2 1070 c.297C>T c.(295-297)GTC>GTT p.V99V HSD3B2_uc001eht.2_Silent_p.V99V|HSD3B2_uc001ehu.2_Silent_p.V99V NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 99 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) TCATGAATGTCAATGTGAAAG 0.458 17 58 --- --- --- --- PASS C1orf56 54964 broad.mit.edu 37 1 151020396 151020396 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:151020396G>A uc001ewn.2 + 1 138 c.73G>A c.(73-75)GGC>AGC p.G25S NM_017860 NP_060330 Q9BUN1 CA056_HUMAN hypothetical protein LOC54964 precursor 25 extracellular region 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|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) GGGGGCCCAAGGCCTGACCCA 0.711 5 23 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152127601 152127601 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:152127601G>T uc001ezs.1 - 3 2039 c.1974C>A c.(1972-1974)CAC>CAA p.H658Q NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 658 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 GTTTGTGTTGGTGATGTTGGC 0.522 25 177 --- --- --- --- PASS ADAR 103 broad.mit.edu 37 1 154574268 154574268 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:154574268T>C uc001ffh.2 - 2 1050 c.850A>G c.(850-852)ACA>GCA p.T284A ADAR_uc001ffj.2_Missense_Mutation_p.T284A|ADAR_uc001ffi.2_Missense_Mutation_p.T284A|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 284 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) AAGGCAGATGTGGAGTTGCTG 0.498 45 259 --- --- --- --- PASS PKLR 5313 broad.mit.edu 37 1 155261636 155261636 + Missense_Mutation SNP C T T rs113403872 byFrequency TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:155261636C>T uc001fkb.3 - 10 1568 c.1529G>A c.(1528-1530)CGA>CAA p.R510Q RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.R479Q NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 510 R -> Q (in PKRD; the most common mutation in European population). endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GAAGACTCCTCGGCATAAGTG 0.587 5 136 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155408743 155408743 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:155408743C>G uc009wqq.2 - 5 5683 c.5203G>C c.(5203-5205)GAT>CAT p.D1735H ASH1L_uc001fkt.2_Missense_Mutation_p.D1735H NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1735 Ser-rich. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATCACAGCATCAATACTTTTC 0.517 7 107 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156641556 156641556 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:156641556C>G uc001fpq.2 - 4 2557 c.2424G>C c.(2422-2424)AAG>AAC p.K808N NM_006617 NP_006608 P48681 NEST_HUMAN nestin 808 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTTTGAGTGACTTTAAGAACT 0.413 22 135 --- --- --- --- PASS ISG20L2 81875 broad.mit.edu 37 1 156693248 156693248 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:156693248T>C uc001fps.1 - 3 1216 c.955A>G c.(955-957)AAG>GAG p.K319E ISG20L2_uc001fpt.1_Missense_Mutation_p.K319E NM_030980 NP_112242 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 319 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGTCCGCTCTTCCCAACCTGA 0.532 26 201 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158615169 158615169 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:158615169G>C uc001fst.1 - 29 4202 c.4003C>G c.(4003-4005)CGT>GGT p.R1335G NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1335 Spectrin 13. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATGTCAGCACGGTGCTCCTGT 0.488 13 87 --- --- --- --- PASS MAEL 84944 broad.mit.edu 37 1 166974348 166974348 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:166974348G>A uc001gdy.1 + 7 755 c.684G>A c.(682-684)AAG>AAA p.K228K MAEL_uc001gdz.1_Silent_p.K197K|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 228 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 GGTGTTTGAAGCATATGGCAA 0.353 9 65 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171509532 171509532 + Missense_Mutation SNP G T T rs149366991 by1000genomes TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:171509532G>T uc010pmg.1 + 16 3187 c.2921G>T c.(2920-2922)CGA>CTA p.R974L BAT2L2_uc010pmh.1_5'UTR NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 974 protein C-terminus binding 0 GGCTTTATACGATCTTCTGAA 0.403 5 41 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176659322 176659322 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:176659322C>A uc001gkz.2 + 5 3351 c.2187C>A c.(2185-2187)GAC>GAA p.D729E PAPPA2_uc001gky.1_Missense_Mutation_p.D729E|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 729 Metalloprotease. 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 GCCACACCGACACCATGATCC 0.483 33 218 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177250107 177250107 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:177250107G>A uc001glf.2 + 8 2107 c.1795G>A c.(1795-1797)GAG>AAG p.E599K FAM5B_uc001glg.2_Missense_Mutation_p.E494K NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 599 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CAGCCACTCTGAGAGCTGGTT 0.557 6 58 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181548209 181548209 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:181548209C>G uc001gow.2 + 5 783 c.618C>G c.(616-618)AGC>AGG p.S206R CACNA1E_uc009wxr.2_Missense_Mutation_p.S113R|CACNA1E_uc009wxs.2_Missense_Mutation_p.S113R NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 206 Cytoplasmic (Potential).|I. 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 TCCTTCTAGGCCTGCAGATTG 0.478 10 142 --- --- --- --- PASS TROVE2 6738 broad.mit.edu 37 1 193038376 193038376 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:193038376G>T uc001gss.2 + 2 367 c.192G>T c.(190-192)TTG>TTT p.L64F TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.L64F|TROVE2_uc001gsw.2_Missense_Mutation_p.L64F|TROVE2_uc009wyp.2_Missense_Mutation_p.L64F|TROVE2_uc009wyq.2_Missense_Mutation_p.L64F|TROVE2_uc001gsx.1_Missense_Mutation_p.L64F NM_004600 NP_004591 P10155 RO60_HUMAN TROVE domain family, member 2 isoform 2 64 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 TAATTAGATTGATTGAAGATG 0.398 16 88 --- --- --- --- PASS CFH 3075 broad.mit.edu 37 1 196712697 196712697 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:196712697G>T uc001gtj.3 + 20 3489 c.3249G>T c.(3247-3249)ATG>ATT p.M1083I NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1083 Sushi 18. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CTTATGAAATGTTTGGGGATG 0.388 28 321 --- --- --- --- PASS CFHR4 10877 broad.mit.edu 37 1 196881977 196881977 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:196881977G>T uc001gto.2 + 3 433 c.364G>T c.(364-366)GCA>TCA p.A122S CFHR4_uc009wyy.2_Missense_Mutation_p.A368S|CFHR4_uc001gtp.2_Missense_Mutation_p.A369S NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 122 Sushi 2. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 ACCAGGATATGCAACAGCAGA 0.284 29 185 --- --- --- --- PASS IKBKE 9641 broad.mit.edu 37 1 206651597 206651597 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:206651597A>T uc001hdz.1 + 9 1275 c.907A>T c.(907-909)AGT>TGT p.S303C IKBKE_uc009xbu.1_3'UTR|IKBKE_uc009xbv.1_Missense_Mutation_p.S303C|IKBKE_uc001hea.1_Missense_Mutation_p.S218C NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 303 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) TGCGGAGACCAGTGACATCCT 0.612 28 176 --- --- --- --- PASS SYT14 255928 broad.mit.edu 37 1 210329086 210329086 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:210329086C>A uc009xcv.2 + 7 1257 c.1185C>A c.(1183-1185)AGC>AGA p.S395R SYT14_uc001hhs.3_Missense_Mutation_p.S440R|SYT14_uc001hht.3_Missense_Mutation_p.S395R|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.S440R|SYT14_uc010pso.1_Missense_Mutation_p.S357R NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 395 Cytoplasmic (Potential). integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) CCCAAATGAGCGTGTCAGAAA 0.353 21 93 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 211093411 211093411 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:211093411C>A uc001hib.2 - 7 1203 c.1033G>T c.(1033-1035)GGC>TGC p.G345C KCNH1_uc001hic.2_Missense_Mutation_p.G318C NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 345 Extracellular (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTGCTGATGCCCTGGGAGAAG 0.527 15 73 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215987192 215987192 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:215987192C>T uc001hku.1 - 49 10012 c.9625G>A c.(9625-9627)GAA>AAA p.E3209K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3209 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) ATATACTTTTCTTCACAACAG 0.413 HNSCC(13;0.011) 5 145 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220184343 220184343 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:220184343G>A uc001hly.1 - 13 1820 c.1550C>T c.(1549-1551)CCA>CTA p.P517L EPRS_uc010puf.1_Missense_Mutation_p.P268L|EPRS_uc001hlz.1_Missense_Mutation_p.P524L|EPRS_uc009xdt.1_Missense_Mutation_p.P220L NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 517 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TACATTCACTGGGATCACTTC 0.403 27 253 --- --- --- --- PASS HHIPL2 79802 broad.mit.edu 37 1 222712020 222712020 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:222712020C>T uc001hnh.1 - 5 1605 c.1547G>A c.(1546-1548)GGC>GAC p.G516D NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 516 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) GATATACAGGCCATTGAGATT 0.378 8 69 --- --- --- --- PASS CNIH3 149111 broad.mit.edu 37 1 224918248 224918248 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:224918248G>C uc001hos.1 + 4 981 c.283G>C c.(283-285)GTC>CTC p.V95L NM_152495 NP_689708 Q8TBE1 CNIH3_HUMAN cornichon homolog 3 95 Cytoplasmic (Potential). intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane 0 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) GGGGCTGAATGTCCCTCTACT 0.517 3 5 --- --- --- --- PASS ACTA1 58 broad.mit.edu 37 1 229568794 229568794 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:229568794G>A uc001htm.2 - 2 174 c.69C>T c.(67-69)TTC>TTT p.F23F NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 23 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) CATCCCCGGCGAAGCCGGCTT 0.682 30 123 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237656289 237656289 + Missense_Mutation SNP C A A rs17686573 by1000genomes TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:237656289C>A uc001hyl.1 + 19 1983 c.1863C>A c.(1861-1863)CAC>CAA p.H621Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 621 Cytoplasmic (By similarity).|B30.2/SPRY 1. 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) GTGTTTGCCACGGGGTTGCAG 0.378 6 33 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237870313 237870313 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:237870313G>T uc001hyl.1 + 68 9765 c.9645G>T c.(9643-9645)ATG>ATT p.M3215I RYR2_uc010pxz.1_Missense_Mutation_p.M170I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3215 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) AGAAACTCATGGAAGAAATCG 0.423 30 192 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237870314 237870314 + Nonsense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:237870314G>T uc001hyl.1 + 68 9766 c.9646G>T c.(9646-9648)GAA>TAA p.E3216* RYR2_uc010pxz.1_Nonsense_Mutation_p.E171* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3216 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) GAAACTCATGGAAGAAATCGT 0.428 30 190 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947443 237947443 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:237947443G>A uc001hyl.1 + 90 12551 c.12431G>A c.(12430-12432)CGC>CAC p.R4144H RYR2_uc010pya.1_Missense_Mutation_p.R559H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4144 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) AGCGCCAAACGCATCGAGAGG 0.498 4 127 --- --- --- --- PASS CHRM3 1131 broad.mit.edu 37 1 240071750 240071750 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:240071750C>G uc001hyp.2 + 5 1778 c.999C>G c.(997-999)AGC>AGG p.S333R NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 333 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ACCACAGCAGCAGTGACAGTT 0.567 6 55 --- --- --- --- PASS KMO 8564 broad.mit.edu 37 1 241724047 241724047 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:241724047G>A uc009xgp.2 + 6 509 c.444G>A c.(442-444)GTG>GTA p.V148V KMO_uc001hyy.2_Silent_p.V148V|KMO_uc009xgo.1_Silent_p.V148V NM_003679 NP_003670 O15229 KMO_HUMAN kynurenine 3-monooxygenase 148 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity ovary(2) 2 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) TGATCACAGTGCTTGGGTAAC 0.428 5 64 --- --- --- --- PASS AHCTF1 25909 broad.mit.edu 37 1 247025290 247025290 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:247025290C>G uc001ibu.1 - 27 3713 c.3706G>C c.(3706-3708)GAA>CAA p.E1236Q AHCTF1_uc001ibv.1_Missense_Mutation_p.E1245Q|AHCTF1_uc009xgs.1_Missense_Mutation_p.E97Q|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 1236 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGGACATCTTCTTCCACAAAT 0.383 5 71 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978248 247978248 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:247978248C>G uc001idm.1 - 1 784 c.784G>C c.(784-786)GAG>CAG p.E262Q NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAAGGAGACTCTGAAGCTGGC 0.413 4 92 --- --- --- --- PASS OR2W3 343171 broad.mit.edu 37 1 248058999 248058999 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:248058999G>T uc001idp.1 + 3 380 c.111G>T c.(109-111)CTG>CTT p.L37L OR2W3_uc010pzb.1_Silent_p.L37L NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CGTACCTCCTGACCCTCGTAG 0.582 31 189 --- --- --- --- PASS OR2M7 391196 broad.mit.edu 37 1 248487405 248487405 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:248487405C>T uc010pzk.1 - 1 466 c.466G>A c.(466-468)GGA>AGA p.G156R NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCAATGATTCCATCTGTAGAG 0.478 32 508 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248569970 248569970 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr1:248569970C>A uc010pzm.1 + 1 675 c.675C>A c.(673-675)AAC>AAA p.N225K NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 225 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGAGATTAACCACTTCTTCT 0.512 25 126 --- --- --- --- PASS TPO 7173 broad.mit.edu 37 2 1520679 1520679 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:1520679C>A uc002qww.2 + 15 2634 c.2543C>A c.(2542-2544)ACT>AAT p.T848N TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.T791N|TPO_uc002qwr.2_Missense_Mutation_p.T848N|TPO_uc002qwx.2_Missense_Mutation_p.T791N|TPO_uc010yio.1_Missense_Mutation_p.T675N|TPO_uc010yip.1_Missense_Mutation_p.T804N|TPO_uc002qwy.1_Missense_Mutation_p.T144N|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 848 Helical; (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCTCGGGTGACTTGGATCTCC 0.582 13 72 --- --- --- --- PASS MATN3 4148 broad.mit.edu 37 2 20201770 20201770 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:20201770G>C uc002rdl.2 - 4 1051 c.988C>G c.(988-990)CAT>GAT p.H330D MATN3_uc010exu.1_Missense_Mutation_p.H288D NM_002381 NP_002372 O15232 MATN3_HUMAN matrilin 3 precursor 330 EGF-like 2. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTCACAATGATAAGAGCCA 0.418 19 46 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21228375 21228375 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:21228375C>T uc002red.2 - 26 11493 c.11365G>A c.(11365-11367)GTA>ATA p.V3789I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3789 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGGAATTTTACCTCGGGGAGT 0.398 56 260 --- --- --- --- PASS DPYSL5 56896 broad.mit.edu 37 2 27157544 27157544 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:27157544G>A uc002rhu.3 + 8 1047 c.889G>A c.(889-891)GTG>ATG p.V297M DPYSL5_uc002rhv.3_Missense_Mutation_p.V297M NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 297 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTATGTCACGGTGCCTCCCCT 0.577 62 352 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32823032 32823032 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:32823032G>C uc010ezu.2 + 69 13961 c.13827G>C c.(13825-13827)ATG>ATC p.M4609I NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4609 Ubiquitin-conjugating. 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) TTGATATCATGAAGGTAAAAA 0.393 3 34 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33246033 33246033 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:33246033T>C uc002ros.2 + 3 623 c.623T>C c.(622-624)GTG>GCG p.V208A NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 208 EGF-like 1. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CAACTCTGTGTGTGTAAACCA 0.532 91 447 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39250320 39250320 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:39250320G>C uc002rrk.3 - 10 1290 c.1249C>G c.(1249-1251)CTA>GTA p.L417V SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.L31V|SOS1_uc002rrl.2_Missense_Mutation_p.L149V NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 417 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) TTGATTGCTAGTTGTTTCCCC 0.358 Noonan_syndrome 36 157 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40656111 40656111 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:40656111G>T uc002rrx.2 - 1 1334 c.1310C>A c.(1309-1311)ACT>AAT p.T437N SLC8A1_uc002rry.2_Missense_Mutation_p.T437N|SLC8A1_uc002rrz.2_Missense_Mutation_p.T437N|SLC8A1_uc002rsa.2_Missense_Mutation_p.T437N|SLC8A1_uc002rsd.3_Missense_Mutation_p.T437N|SLC8A1_uc002rsb.1_Missense_Mutation_p.T437N|SLC8A1_uc010fan.1_Missense_Mutation_p.T437N|SLC8A1_uc002rsc.1_Missense_Mutation_p.T437N NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 437 Calx-beta 1.|Cytoplasmic (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) CACAGTGTTAGTCAAATCACC 0.443 25 132 --- --- --- --- PASS DYNC2LI1 51626 broad.mit.edu 37 2 44021646 44021646 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:44021646G>T uc002rtk.2 + 6 467 c.371G>T c.(370-372)TGG>TTG p.W124L DYNC2LI1_uc002rth.2_Missense_Mutation_p.W124L|DYNC2LI1_uc002rti.2_3'UTR|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.W124L|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.W124L|DYNC2LI1_uc010ynz.1_5'UTR NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 124 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AATGATCTCTGGCCCACCATG 0.348 7 102 --- --- --- --- PASS DYNC2LI1 51626 broad.mit.edu 37 2 44021647 44021647 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:44021647G>C uc002rtk.2 + 6 468 c.372G>C c.(370-372)TGG>TGC p.W124C DYNC2LI1_uc002rth.2_Missense_Mutation_p.W124C|DYNC2LI1_uc002rti.2_3'UTR|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.W124C|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.W124C|DYNC2LI1_uc010ynz.1_5'UTR NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 124 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATGATCTCTGGCCCACCATGG 0.353 7 100 --- --- --- --- PASS SIX2 10736 broad.mit.edu 37 2 45235921 45235921 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:45235921C>A uc002ruo.2 - 1 622 c.329G>T c.(328-330)CGC>CTC p.R110L SIX2_uc002rup.2_Missense_Mutation_p.R110L NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 110 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCGGCGCACGCGGTATTTGCC 0.657 17 105 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50724617 50724617 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:50724617G>A uc010fbq.2 - 14 4330 c.2853C>T c.(2851-2853)ACC>ACT p.T951T NRXN1_uc002rxb.3_Silent_p.T583T|NRXN1_uc002rxe.3_Silent_p.T911T|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AGCTCGATTTGGTCTTGAAGG 0.398 11 61 --- --- --- --- PASS PSME4 23198 broad.mit.edu 37 2 54147397 54147397 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:54147397C>G uc002rxp.2 - 19 2409 c.2353G>C c.(2353-2355)GAC>CAC p.D785H PSME4_uc010yop.1_Missense_Mutation_p.D671H|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.D160H|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 785 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGAAAGGAGTCCAAAAGATAA 0.428 6 325 --- --- --- --- PASS CCDC88A 55704 broad.mit.edu 37 2 55562301 55562301 + Splice_Site SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:55562301C>G uc002ryv.2 - 15 2499 c.1657_splice c.e15-1 p.I553_splice CCDC88A_uc010yoz.1_Splice_Site_p.I553_splice|CCDC88A_uc010ypa.1_Splice_Site_p.I553_splice|CCDC88A_uc010ypb.1_Intron|CCDC88A_uc002ryu.2_Splice_Site|CCDC88A_uc002ryw.2_Splice_Site NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 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 GTATCTTAATCTAATTTGAAA 0.348 10 43 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61575411 61575411 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:61575411C>T uc002sbe.2 - 15 1901 c.1879G>A c.(1879-1881)GAT>AAT p.D627N NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 627 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CCATGATCATCGTCTTCATCT 0.488 15 91 --- --- --- --- PASS ARHGAP25 9938 broad.mit.edu 37 2 69049822 69049822 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:69049822C>T uc002seu.2 + 10 1912 c.1548C>T c.(1546-1548)GCC>GCT p.A516A ARHGAP25_uc010fdg.2_Silent_p.A517A|ARHGAP25_uc010yql.1_Silent_p.A477A|ARHGAP25_uc002sew.2_Silent_p.A509A|ARHGAP25_uc002sex.2_Silent_p.A510A|ARHGAP25_uc002sey.2_Silent_p.A243A NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 516 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 GGGAGGAAGCCAGTGCACTCT 0.537 17 146 --- --- --- --- PASS STAMBP 10617 broad.mit.edu 37 2 74074661 74074661 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:74074661G>C uc002sjs.2 + 5 573 c.523G>C c.(523-525)GAA>CAA p.E175Q STAMBP_uc002sjt.2_Missense_Mutation_p.E175Q|STAMBP_uc002sju.2_Missense_Mutation_p.E175Q|STAMBP_uc002sjv.2_Missense_Mutation_p.E175Q NM_201647 NP_964010 O95630 STABP_HUMAN STAM binding protein 175 Glu-rich. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding ovary(1)|lung(1)|breast(1)|pancreas(1) 4 CCAGGAGCTAGAAAAAGAGCG 0.507 9 66 --- --- --- --- PASS SLC4A5 57835 broad.mit.edu 37 2 74480125 74480125 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:74480125T>C uc002sko.1 - 10 1246 c.1244A>G c.(1243-1245)AAG>AGG p.K415R SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.K415R|SLC4A5_uc010ffc.1_Missense_Mutation_p.K415R|SLC4A5_uc002skp.1_Missense_Mutation_p.K351R|SLC4A5_uc002sks.1_Missense_Mutation_p.K415R NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 415 Cytoplasmic (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 GGGCACCTTCTTGGGGGGCTC 0.468 27 119 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80530489 80530489 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:80530489G>T uc002sok.1 - 2 726 c.456C>A c.(454-456)CTC>CTA p.L152L CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 152 LRR 3.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GGTCGGGCGCGAGCGCCTGCA 0.642 HNSCC(69;0.2) 21 82 --- --- --- --- PASS INPP4A 3631 broad.mit.edu 37 2 99149956 99149956 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:99149956G>C uc002syy.2 + 5 661 c.268G>C c.(268-270)GAG>CAG p.E90Q INPP4A_uc010yvj.1_Missense_Mutation_p.E90Q|INPP4A_uc010yvk.1_Missense_Mutation_p.E90Q|INPP4A_uc002syx.2_Missense_Mutation_p.E90Q|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 90 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 GGAGATCATTGAGGTGGGTGC 0.517 17 71 --- --- --- --- PASS ANKRD57 65124 broad.mit.edu 37 2 110373630 110373630 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:110373630A>G uc002tfb.2 + 1 1720 c.1564A>G c.(1564-1566)AAT>GAT p.N522D SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank NM_023016 NP_075392 Q53LP3 ANR57_HUMAN ankyrin repeat domain 57 522 0 ACCAAAGTCCAATGTATTTGG 0.473 11 33 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125555884 125555884 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:125555884G>T uc002tno.2 + 19 3565 c.3201G>T c.(3199-3201)CTG>CTT p.L1067L CNTNAP5_uc010flu.2_Silent_p.L1068L NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1067 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGTTGTTCTGCTCTGCAAGA 0.498 7 76 --- --- --- --- PASS PLEKHB2 55041 broad.mit.edu 37 2 131897811 131897811 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:131897811G>T uc002tsg.3 + 7 1055 c.495G>T c.(493-495)GGG>GGT p.G165G PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsj.3_Silent_p.G164G|PLEKHB2_uc002tsf.3_Silent_p.G173G|PLEKHB2_uc010zao.1_Silent_p.G115G|PLEKHB2_uc010zap.1_Intron|PLEKHB2_uc010zaq.1_Missense_Mutation_p.G121V|PLEKHB2_uc002tsi.3_Silent_p.G206G NM_001100623 NP_001094093 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B 165 membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.0828) CTGCGAATGGGCAGGCGTATG 0.527 4 41 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141083359 141083359 + Silent SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:141083359A>G uc002tvj.1 - 80 13284 c.12312T>C c.(12310-12312)AAT>AAC p.N4104N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4104 Extracellular (Potential).|LDL-receptor class B 36. 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) AGACTACTGAATTAGAGCCAT 0.363 TSP Lung(27;0.18) 6 75 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141201953 141201953 + Silent SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:141201953A>G uc002tvj.1 - 65 11212 c.10240T>C c.(10240-10242)TTA>CTA p.L3414L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3414 Extracellular (Potential).|LDL-receptor class A 23. 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) TTACATCTTAAGTTTACTGGG 0.398 TSP Lung(27;0.18) 32 207 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163292047 163292047 + Missense_Mutation SNP T A A rs79852917 TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:163292047T>A uc002uch.1 - 8 1827 c.1615A>T c.(1615-1617)AGG>TGG p.R539W KCNH7_uc002uci.2_Missense_Mutation_p.R532W NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 539 Helical; Voltage-sensor; Name=Segment S4; (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TCCAGTTTCCTGGCCACGCGC 0.463 20 83 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166183444 166183444 + Nonsense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:166183444C>G uc002udc.2 + 13 2389 c.2099C>G c.(2098-2100)TCA>TGA p.S700* SCN2A_uc002udd.2_Nonsense_Mutation_p.S700*|SCN2A_uc002ude.2_Nonsense_Mutation_p.S700* NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 700 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GATCCTACATCAAGGCAAAGA 0.393 29 180 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166903458 166903458 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:166903458A>T uc010zcz.1 - 9 1217 c.1199T>A c.(1198-1200)ATG>AAG p.M400K SCN1A_uc002udo.3_Missense_Mutation_p.M269K|SCN1A_uc010fpk.2_Missense_Mutation_p.M269K NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 400 Helical; Name=S6 of repeat I; (By similarity).|I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AAAAAATATCATGTACGTTTT 0.383 12 161 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168099807 168099807 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:168099807C>G uc002udx.2 + 8 1923 c.1905C>G c.(1903-1905)GAC>GAG p.D635E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D460E|XIRP2_uc010fpq.2_Missense_Mutation_p.D413E|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 460 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATTCTTCTGACACTGTAGAAA 0.433 20 98 --- --- --- --- PASS KBTBD10 10324 broad.mit.edu 37 2 170366466 170366466 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:170366466G>C uc002ueu.1 + 1 255 c.178G>C c.(178-180)GAG>CAG p.E60Q KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 60 BTB. striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 TTACTTCCGTGAGTACTTTTT 0.388 58 269 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178545563 178545563 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:178545563T>C uc002ulq.2 - 16 2732 c.2414A>G c.(2413-2415)GAT>GGT p.D805G PDE11A_uc002ulp.2_Missense_Mutation_p.D361G|PDE11A_uc002ulr.2_Missense_Mutation_p.D555G|PDE11A_uc002uls.1_Missense_Mutation_p.D447G|PDE11A_uc002ult.1_Missense_Mutation_p.D555G|PDE11A_uc002ulu.1_Missense_Mutation_p.D447G NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 805 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) CCGAAATATATCACGATGGTT 0.328 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 11 61 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179413051 179413051 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:179413051G>T uc010zfg.1 - 288 85822 c.85598C>A c.(85597-85599)CCC>CAC p.P28533H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P22228H|TTN_uc010zfi.1_Missense_Mutation_p.P22161H|TTN_uc010zfj.1_Missense_Mutation_p.P22036H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29460 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) CATTTCATAGGGCTCACCAAC 0.468 46 212 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179417146 179417146 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:179417146G>T uc010zfg.1 - 284 83001 c.82777C>A c.(82777-82779)CCA>ACA p.P27593T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21288T|TTN_uc010zfi.1_Missense_Mutation_p.P21221T|TTN_uc010zfj.1_Missense_Mutation_p.P21096T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28520 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) CTGATGGATGGTTTGGGTTTT 0.408 10 55 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179452497 179452497 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:179452497A>G uc010zfg.1 - 255 56059 c.55835T>C c.(55834-55836)ATG>ACG p.M18612T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M12307T|TTN_uc010zfi.1_Missense_Mutation_p.M12240T|TTN_uc010zfj.1_Missense_Mutation_p.M12115T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19539 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) CAGTTTCCTCATGCTGGCATC 0.423 7 69 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179479391 179479391 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:179479391C>T uc010zfg.1 - 210 41370 c.41146G>A c.(41146-41148)GGA>AGA p.G13716R uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.G7411R|TTN_uc010zfi.1_Missense_Mutation_p.G7344R|TTN_uc010zfj.1_Missense_Mutation_p.G7219R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14643 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) TCAGGTTTTCCGGTTACGGTG 0.438 15 71 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179482119 179482119 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:179482119C>T uc010zfg.1 - 203 40213 c.39989G>A c.(39988-39990)CGA>CAA p.R13330Q TTN_uc010zfh.1_Missense_Mutation_p.R7025Q|TTN_uc010zfi.1_Missense_Mutation_p.R6958Q|TTN_uc010zfj.1_Missense_Mutation_p.R6833Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14257 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) TTCTTCGCATCGCTCAATTAT 0.383 7 28 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179596050 179596050 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:179596050C>T uc010zfg.1 - 56 13935 c.13711G>A c.(13711-13713)GCA>ACA p.A4571T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1232T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5498 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) GAGAGTAATGCAGAACATCTT 0.433 78 565 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185801203 185801203 + Silent SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:185801203C>A uc002uph.2 + 4 1674 c.1080C>A c.(1078-1080)TCC>TCA p.S360S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 360 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GAAATAAATCCACAGTTCTTG 0.363 12 111 --- --- --- --- PASS GULP1 51454 broad.mit.edu 37 2 189387534 189387534 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:189387534G>T uc010fru.2 + 5 603 c.142G>T c.(142-144)GAT>TAT p.D48Y GULP1_uc002uqc.3_Missense_Mutation_p.D48Y|GULP1_uc002uqd.2_Missense_Mutation_p.D48Y|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Missense_Mutation_p.D48Y|GULP1_uc002uqf.2_Missense_Mutation_p.D48Y|GULP1_uc002uqg.2_Missense_Mutation_p.D48Y NM_016315 NP_057399 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 48 PID. apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) AGTTGTGAGAGATGCTGTAAG 0.383 15 103 --- --- --- --- PASS BOLL 66037 broad.mit.edu 37 2 198631324 198631324 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:198631324G>T uc002uus.2 - 7 794 c.484C>A c.(484-486)CGT>AGT p.R162S uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.R168S|BOLL_uc002uut.2_Missense_Mutation_p.R174S|BOLL_uc010zha.1_Missense_Mutation_p.R53S|BOLL_uc002uuu.1_Missense_Mutation_p.R168S NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN boule isoform 2 162 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity ovary(2) 2 CATACAGAACGTGACTATAAA 0.343 6 43 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201501731 201501731 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:201501731G>C uc002uvx.2 + 22 2545 c.2444G>C c.(2443-2445)GGA>GCA p.G815A AOX1_uc010zhf.1_Missense_Mutation_p.G371A|AOX1_uc010fsu.2_Missense_Mutation_p.G181A NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 815 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTAAAAACCGGAATCATTGCA 0.458 17 66 --- --- --- --- PASS ALS2CR11 151254 broad.mit.edu 37 2 202400915 202400915 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:202400915C>G uc002uye.2 - 13 1383 c.1335G>C c.(1333-1335)TTG>TTC p.L445F ALS2CR11_uc002uyf.2_Missense_Mutation_p.L445F|ALS2CR11_uc010fti.2_Intron NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 445 large_intestine(1)|ovary(1)|skin(1) 3 AAATAGTGCACAATGAGTGCA 0.383 52 260 --- --- --- --- PASS C2orf67 151050 broad.mit.edu 37 2 210888922 210888922 + Silent SNP A C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:210888922A>C uc002vds.2 - 14 2776 c.2568T>G c.(2566-2568)GCT>GCG p.A856A C2orf67_uc002vdt.2_Silent_p.A814A NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 856 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) TTTTACTGTAAGCTCTAGCAA 0.373 16 85 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211473090 211473090 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:211473090C>T uc002vee.3 + 19 2330 c.2198C>T c.(2197-2199)CCA>CTA p.P733L CPS1_uc010fur.2_Missense_Mutation_p.P739L|CPS1_uc010fus.2_Missense_Mutation_p.P282L NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 733 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TATAGCTACCCATTGGCATTC 0.358 18 172 --- --- --- --- PASS VIL1 7429 broad.mit.edu 37 2 219297587 219297587 + Silent SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:219297587T>C uc002via.2 + 13 1478 c.1413T>C c.(1411-1413)AAT>AAC p.N471N VIL1_uc010zke.1_Silent_p.N160N|VIL1_uc002vib.2_Silent_p.N471N NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 471 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGAAGTACAATGGTGAACCAG 0.557 17 52 --- --- --- --- PASS CCL20 6364 broad.mit.edu 37 2 228681066 228681066 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:228681066C>A uc002vpl.2 + 3 305 c.235C>A c.(235-237)CAG>AAG p.Q79K CCL20_uc002vpm.2_Missense_Mutation_p.Q78K NM_004591 NP_004582 P78556 CCL20_HUMAN chemokine (C-C motif) ligand 20 isoform 1 79 cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction extracellular space chemokine activity 0 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) AAATCCAAAACAGACTTGGGT 0.383 17 104 --- --- --- --- PASS DNER 92737 broad.mit.edu 37 2 230453205 230453205 + Splice_Site SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:230453205C>A uc002vpv.2 - 3 733 c.586_splice c.e3-1 p.V196_splice DNER_uc010zly.1_5'Flank NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 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) CTGGGATCACCTGGGAAGGGA 0.433 9 41 --- --- --- --- PASS SH3BP4 23677 broad.mit.edu 37 2 235950606 235950606 + Nonsense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:235950606C>G uc002vvp.2 + 4 1586 c.1193C>G c.(1192-1194)TCA>TGA p.S398* SH3BP4_uc010fym.2_Nonsense_Mutation_p.S398*|SH3BP4_uc002vvq.2_Nonsense_Mutation_p.S398* NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 398 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) ATGAAAGTGTCAGCCGAGATA 0.527 6 71 --- --- --- --- PASS RNPEPL1 57140 broad.mit.edu 37 2 241515974 241515974 + Silent SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr2:241515974C>G uc002vzi.2 + 9 1433 c.840C>G c.(838-840)CTC>CTG p.L280L RNPEPL1_uc010fzf.2_Silent_p.L186L|RNPEPL1_uc002vzj.2_Intron NM_018226 NP_060696 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 280 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) AGCGCTGGCTCAATGCCACAG 0.667 6 25 --- --- --- --- PASS TGM4 7047 broad.mit.edu 37 3 44943025 44943025 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:44943025G>C uc003coc.3 + 7 740 c.667G>C c.(667-669)GAG>CAG p.E223Q TGM4_uc003cob.2_RNA NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 223 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GATGAGCTTTGAGAAAGGCCA 0.607 4 11 --- --- --- --- PASS CACNA2D2 9254 broad.mit.edu 37 3 50404011 50404011 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:50404011C>G uc003daq.2 - 31 2694 c.2656G>C c.(2656-2658)GAG>CAG p.E886Q CACNA2D2_uc003dap.2_Missense_Mutation_p.E879Q|CACNA2D2_uc003dao.2_5'Flank NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 886 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) ACACACACCTCATTGTTAACC 0.597 10 47 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52398929 52398929 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:52398929C>T uc011bef.1 + 34 5673 c.5412C>T c.(5410-5412)ATC>ATT p.I1804I NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1804 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCTCTGGCATCGTGTCCGACC 0.607 26 87 --- --- --- --- PASS ITIH4 3700 broad.mit.edu 37 3 52851038 52851038 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:52851038G>A uc003dfz.2 - 21 2369 c.2333C>T c.(2332-2334)GCT>GTT p.A778V ITIH4_uc011bel.1_Missense_Mutation_p.A492V|ITIH4_uc003dfy.2_Missense_Mutation_p.A573V|ITIH4_uc011bem.1_Missense_Mutation_p.A783V|ITIH4_uc011ben.1_Missense_Mutation_p.A748V NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 778 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TGAGAACCCAGCCTTCTCCCT 0.592 32 131 --- --- --- --- PASS CACNA2D3 55799 broad.mit.edu 37 3 54930847 54930847 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:54930847C>T uc003dhf.2 + 26 2366 c.2318C>T c.(2317-2319)GCC>GTC p.A773V CACNA2D3_uc003dhg.1_Missense_Mutation_p.A679V|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_RNA NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 773 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TACCGAAGAGCCGCTGAGCAG 0.527 5 154 --- --- --- --- PASS ROBO1 6091 broad.mit.edu 37 3 78683154 78683154 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:78683154A>G uc003dqe.2 - 24 3620 c.3412T>C c.(3412-3414)TAC>CAC p.Y1138H ROBO1_uc003dqb.2_Missense_Mutation_p.Y1099H|ROBO1_uc003dqc.2_Missense_Mutation_p.Y1038H|ROBO1_uc003dqd.2_Missense_Mutation_p.Y1093H|ROBO1_uc010hoh.2_Missense_Mutation_p.Y330H|ROBO1_uc011bgl.1_Missense_Mutation_p.Y710H NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1138 Cytoplasmic (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) GATTGGTTGTATGGGATAGTT 0.398 17 84 --- --- --- --- PASS KIAA2018 205717 broad.mit.edu 37 3 113375001 113375001 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:113375001T>C uc003eam.2 - 7 5939 c.5528A>G c.(5527-5529)CAG>CGG p.Q1843R KIAA2018_uc003eal.2_Missense_Mutation_p.Q1787R NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1843 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 TGTATTCCTCTGATGTTCTGA 0.443 19 209 --- --- --- --- PASS ZNF148 7707 broad.mit.edu 37 3 124951424 124951424 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:124951424C>G uc003ehx.3 - 9 2632 c.2146G>C c.(2146-2148)GAG>CAG p.E716Q SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.E716Q|ZNF148_uc010hsa.2_Missense_Mutation_p.E716Q|ZNF148_uc003eia.3_Missense_Mutation_p.E716Q|ZNF148_uc003ehy.2_Missense_Mutation_p.E53Q NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 716 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 GGCTGGGCCTCAGCTTTCTTC 0.473 21 182 --- --- --- --- PASS TPRA1 131601 broad.mit.edu 37 3 127295676 127295676 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:127295676C>A uc003ejl.2 - 4 697 c.406G>T c.(406-408)GGC>TGC p.G136C TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Missense_Mutation_p.G136C|TPRA1_uc010hsk.2_Missense_Mutation_p.G136C|TPRA1_uc003ejn.2_Missense_Mutation_p.G136C NM_016372 NP_057456 Q86W33 TPRA1_HUMAN G protein-coupled receptor 175 isoform 1 136 Helical; Name=3; (Potential). aging|lipid metabolic process integral to membrane G-protein coupled receptor activity 0 AAGGCCAGGCCCAGGATGATC 0.642 9 59 --- --- --- --- PASS CCRL1 51554 broad.mit.edu 37 3 132320083 132320083 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:132320083T>C uc003eow.2 + 2 925 c.842T>C c.(841-843)ATG>ACG p.M281T ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.M281T NM_016557 NP_057641 Q9NPB9 CCRL1_HUMAN chemokine (C-C motif) receptor-like 1 281 Extracellular (Potential). chemotaxis|immune response integral to plasma membrane C-C chemokine receptor activity 0 AGCAAACGCATGGACATCGCC 0.443 19 207 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134670815 134670815 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:134670815G>A uc003eqt.2 + 3 946 c.726G>A c.(724-726)GGG>GGA p.G242G EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 242 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 ACTGCAACGGGGATGGGGAAT 0.572 45 283 --- --- --- --- PASS PLS1 5357 broad.mit.edu 37 3 142408474 142408474 + Silent SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:142408474G>C uc010huv.2 + 10 1155 c.996G>C c.(994-996)CTG>CTC p.L332L PLS1_uc003euz.2_Silent_p.L332L|PLS1_uc003eva.2_Silent_p.L332L NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 332 Actin-binding 1.|CH 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 CAAATGACCTGAAGCGTGCTG 0.338 8 117 --- --- --- --- PASS SELT 51714 broad.mit.edu 37 3 150344895 150344895 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:150344895G>C uc011bnx.1 + 6 646 c.562G>C c.(562-564)GAT>CAT p.D188H NM_016275 NP_057359 P62341 SELT_HUMAN selenoprotein T precursor 188 cell redox homeostasis|selenocysteine incorporation selenium binding 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TGTGCATATGGATTCAATCCC 0.383 38 186 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164905811 164905811 + Silent SNP G T T rs150831053 byFrequency TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:164905811G>T uc003fej.3 - 2 3252 c.2808C>A c.(2806-2808)CTC>CTA p.L936L SLITRK3_uc003fek.2_Silent_p.L936L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 936 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CAGCCGAGAAGAGAAGGGTTT 0.498 HNSCC(40;0.11) 42 286 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907492 164907492 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:164907492C>T uc003fej.3 - 2 1571 c.1127G>A c.(1126-1128)GGG>GAG p.G376E SLITRK3_uc003fek.2_Missense_Mutation_p.G376E NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 376 LRRNT.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 ACAGGTACACCCAGTGGGGCA 0.478 HNSCC(40;0.11) 45 261 --- --- --- --- PASS WDR49 151790 broad.mit.edu 37 3 167245649 167245649 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:167245649C>A uc003fev.1 - 11 1813 c.1507G>T c.(1507-1509)GTG>TTG p.V503L WDR49_uc003feu.1_Missense_Mutation_p.V328L|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 503 WD 8. large_intestine(1)|ovary(1)|skin(1) 3 ACACCAGTCACACAAATACTG 0.403 13 77 --- --- --- --- PASS LEPREL1 55214 broad.mit.edu 37 3 189712013 189712013 + Missense_Mutation SNP C A A rs138997029 TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:189712013C>A uc011bsk.1 - 3 1081 c.693G>T c.(691-693)AGG>AGT p.R231S LEPREL1_uc003fsg.2_Missense_Mutation_p.R50S NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 231 TPR 3. collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GTTCGAAGTGCCTGATAGCCA 0.378 23 103 --- --- --- --- PASS ATP13A3 79572 broad.mit.edu 37 3 194177845 194177845 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:194177845T>C uc003fty.3 - 6 940 c.538A>G c.(538-540)ACA>GCA p.T180A NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 180 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) ATCCCCTTTGTCAGTCCTGCA 0.328 23 117 --- --- --- --- PASS BDH1 622 broad.mit.edu 37 3 197238966 197238966 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:197238966C>T uc003fxr.2 - 8 1234 c.832G>A c.(832-834)GAT>AAT p.D278N BDH1_uc003fxs.2_Missense_Mutation_p.D278N|BDH1_uc003fxt.2_Missense_Mutation_p.D191N|BDH1_uc003fxu.2_Missense_Mutation_p.D278N NM_203314 NP_976059 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 278 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity ovary(1) 1 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) ATCTTTTCATCAAAGTACTTC 0.577 14 134 --- --- --- --- PASS KIAA0226 9711 broad.mit.edu 37 3 197428728 197428728 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr3:197428728C>G uc003fyc.2 - 6 761 c.578G>C c.(577-579)AGA>ACA p.R193T KIAA0226_uc003fyd.3_Missense_Mutation_p.R133T|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Missense_Mutation_p.R26T|KIAA0226_uc003fyg.2_Missense_Mutation_p.R186T NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 193 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CTCGTGCTTTCTGGCAAACTA 0.502 6 58 --- --- --- --- PASS SLC2A9 56606 broad.mit.edu 37 4 9836629 9836629 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:9836629C>T uc003gmc.2 - 11 1356 c.1295G>A c.(1294-1296)GGC>GAC p.G432D SLC2A9_uc003gmd.2_Missense_Mutation_p.G403D NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 432 Helical; Name=10; (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 GAACGGGATGCCACCTGCAGT 0.542 3 56 --- --- --- --- PASS ZNF518B 85460 broad.mit.edu 37 4 10447079 10447079 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:10447079G>T uc003gmn.2 - 3 1361 c.874C>A c.(874-876)CCA>ACA p.P292T NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 ATTTTATTTGGAATACAAACT 0.373 53 282 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20619273 20619273 + Nonsense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:20619273G>T uc003gpr.1 + 36 4552 c.4348G>T c.(4348-4350)GAA>TAA p.E1450* SLIT2_uc003gps.1_Nonsense_Mutation_p.E1442* NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1450 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CTGTGATCGAGGTAAGCCAGC 0.468 5 20 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20619274 20619274 + Splice_Site SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:20619274G>T uc003gpr.1 + 36 4552 c.4348_splice c.e36+1 p.E1450_splice SLIT2_uc003gps.1_Splice_Site_p.E1442_splice NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TGTGATCGAGGTAAGCCAGCC 0.463 5 20 --- --- --- --- PASS KLB 152831 broad.mit.edu 37 4 39436170 39436170 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:39436170G>C uc003gua.2 + 2 1263 c.1166G>C c.(1165-1167)GGA>GCA p.G389A KLB_uc011byj.1_Missense_Mutation_p.G389A NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 389 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 GCTAAAATGGGACAAAATGTT 0.423 34 148 --- --- --- --- PASS FRYL 285527 broad.mit.edu 37 4 48575205 48575205 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:48575205C>G uc003gyh.1 - 26 3507 c.2902G>C c.(2902-2904)GAG>CAG p.E968Q FRYL_uc003gyk.2_Missense_Mutation_p.E968Q NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 968 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CAGCTCACCTCTGGCCTTCTT 0.343 5 95 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56846395 56846395 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:56846395A>T uc003hbi.2 + 12 1794 c.1560A>T c.(1558-1560)GAA>GAT p.E520D CEP135_uc003hbj.2_Missense_Mutation_p.E226D NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 520 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) AATATATGGAAGATATACAGT 0.284 35 104 --- --- --- --- PASS KIAA1211 57482 broad.mit.edu 37 4 57180260 57180260 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:57180260G>C uc003hbk.2 + 8 983 c.592G>C c.(592-594)GGA>CGA p.G198R KIAA1211_uc010iha.2_Missense_Mutation_p.G191R|KIAA1211_uc011bzz.1_Missense_Mutation_p.G108R|KIAA1211_uc003hbm.1_Missense_Mutation_p.G84R NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 198 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GGACCAGAACGGACACCCAGG 0.542 8 47 --- --- --- --- PASS AGPAT9 84803 broad.mit.edu 37 4 84519333 84519333 + Splice_Site SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:84519333G>C uc003how.2 + 11 1343 c.1125_splice c.e11+1 p.E375_splice AGPAT9_uc003hox.2_Splice_Site_p.E375_splice|AGPAT9_uc003hoy.2_Splice_Site_p.E375_splice NM_032717 NP_116106 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity skin(1) 1 Hepatocellular(203;0.114) GACCAGAGAGGTATTCCTTAG 0.473 16 84 --- --- --- --- PASS NPY1R 4886 broad.mit.edu 37 4 164247564 164247564 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:164247564C>A uc003iqm.1 - 2 409 c.143G>T c.(142-144)GGA>GTA p.G48V NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 48 Helical; Name=1; (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GATCACAGCTCCATAAGCAAG 0.408 28 118 --- --- --- --- PASS CCDC110 256309 broad.mit.edu 37 4 186379310 186379310 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:186379310G>C uc003ixu.3 - 6 2507 c.2431C>G c.(2431-2433)CAG>GAG p.Q811E CCDC110_uc003ixv.3_Missense_Mutation_p.Q774E|CCDC110_uc011ckt.1_Missense_Mutation_p.Q811E NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 811 nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) GGCCTACTCTGAGGACTAGAA 0.373 15 73 --- --- --- --- PASS CCDC110 256309 broad.mit.edu 37 4 186380438 186380438 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr4:186380438G>T uc003ixu.3 - 6 1379 c.1303C>A c.(1303-1305)CTA>ATA p.L435I CCDC110_uc003ixv.3_Missense_Mutation_p.L398I|CCDC110_uc011ckt.1_Missense_Mutation_p.L435I NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 435 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) GATTCTTTTAGGTAATTCTGT 0.323 38 220 --- --- --- --- PASS CMBL 134147 broad.mit.edu 37 5 10286599 10286599 + Silent SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:10286599A>G uc003jes.2 - 4 784 c.333T>C c.(331-333)AGT>AGC p.S111S NM_138809 NP_620164 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase 111 cytosol hydrolase activity|protein binding skin(1) 1 TCAAGATAGCACTGATCTCTC 0.413 13 73 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10417441 10417441 + Silent SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:10417441G>C uc003jet.1 + 22 2391 c.2208G>C c.(2206-2208)GGG>GGC p.G736G MARCH6_uc011cmu.1_Silent_p.G688G|MARCH6_uc003jeu.1_Silent_p.G434G|MARCH6_uc011cmv.1_Silent_p.G631G NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 736 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 TCCTTCTGGGGCTCCTGTTTG 0.468 11 444 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13766220 13766220 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:13766220G>C uc003jfd.2 - 59 10008 c.9966C>G c.(9964-9966)ATC>ATG p.I3322M DNAH5_uc003jfc.2_Translation_Start_Site NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3322 Stalk (By similarity). 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) CGCAATCCATGATCCGCATGA 0.527 Kartagener_syndrome 76 172 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13922215 13922215 + Splice_Site SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:13922215C>T uc003jfd.2 - 5 702 c.660_splice c.e5+1 p.K220_splice DNAH5_uc003jfe.1_Splice_Site NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 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) TTCGTCCTCACCTTCTCCTTC 0.478 Kartagener_syndrome 8 81 --- --- --- --- PASS C5orf22 55322 broad.mit.edu 37 5 31534424 31534424 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:31534424G>A uc003jhj.3 + 2 254 c.127G>A c.(127-129)GCC>ACC p.A43T RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR NM_018356 NP_060826 Q49AR2 CE022_HUMAN hypothetical protein LOC55322 43 ovary(2) 2 GCATCTTCCTGCCAGTAATGT 0.423 14 224 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33938115 33938115 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:33938115C>A uc003jic.1 + 1 1627 c.1270C>A c.(1270-1272)CCG>ACG p.P424T NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 424 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 CACTACCAAGCCGGAGCACGA 0.567 10 24 --- --- --- --- PASS PRLR 5618 broad.mit.edu 37 5 35084623 35084623 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:35084623G>T uc003jjm.2 - 5 852 c.322C>A c.(322-324)CAG>AAG p.Q108K PRLR_uc003jjg.1_Missense_Mutation_p.Q108K|PRLR_uc003jjh.1_Missense_Mutation_p.Q108K|PRLR_uc003jji.1_Missense_Mutation_p.Q37K|PRLR_uc003jjj.1_Missense_Mutation_p.Q108K|PRLR_uc003jjk.1_Missense_Mutation_p.Q37K|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_Missense_Mutation_p.Q37K NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 108 Fibronectin type-III 1.|Extracellular (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CTTCCCATCTGGTTAGTGGCA 0.468 163 345 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41155154 41155154 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:41155154G>T uc003jmk.2 - 14 2231 c.2021C>A c.(2020-2022)ACT>AAT p.T674N C6_uc003jml.1_Missense_Mutation_p.T674N NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 674 Sushi 1.|C5b-binding domain. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTCAAAGCCAGTAAGGCATGA 0.398 24 174 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41382263 41382263 + Silent SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:41382263G>C uc003jmm.1 - 2 579 c.477C>G c.(475-477)GTC>GTG p.V159V NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 159 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 TCAGCATTTGGACCAGTTTTT 0.418 45 348 --- --- --- --- PASS GHR 2690 broad.mit.edu 37 5 42718770 42718770 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:42718770C>T uc003jmt.2 + 10 1204 c.1161C>T c.(1159-1161)ACC>ACT p.T387T GHR_uc011cpq.1_Silent_p.T200T NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 387 Cytoplasmic (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CTGGACGTACCAGCTGTTGTG 0.468 45 246 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45462025 45462025 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:45462025C>T uc003jok.2 - 3 959 c.934G>A c.(934-936)GAT>AAT p.D312N NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 312 Helical; Name=Segment S5; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AGACAACCATCCCAGTGGCAC 0.413 5 84 --- --- --- --- PASS SKIV2L2 23517 broad.mit.edu 37 5 54706356 54706356 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:54706356G>C uc003jpy.3 + 23 2916 c.2650G>C c.(2650-2652)GAT>CAT p.D884H SKIV2L2_uc011cqi.1_Missense_Mutation_p.D783H NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 884 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TTGTAGTGCTGATGAGCTCCT 0.343 32 131 --- --- --- --- PASS RAB3C 115827 broad.mit.edu 37 5 57913583 57913583 + Silent SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:57913583T>C uc003jrp.2 + 2 235 c.138T>C c.(136-138)TTT>TTC p.F46F NM_138453 NP_612462 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 46 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) AAACATCTTTTCTATTCCGTT 0.393 23 65 --- --- --- --- PASS WDR41 55255 broad.mit.edu 37 5 76732210 76732210 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:76732210T>C uc003kff.1 - 12 1390 c.1103A>G c.(1102-1104)AAC>AGC p.N368S WDR41_uc011csy.1_Missense_Mutation_p.N310S|WDR41_uc011csz.1_Missense_Mutation_p.N313S NM_018268 NP_060738 Q9HAD4 WDR41_HUMAN WD repeat domain 41 368 0 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) TCCCCACATGTTAAAAAAACC 0.353 15 98 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101816026 101816026 + Silent SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:101816026C>A uc003knn.2 - 2 643 c.471G>T c.(469-471)CTG>CTT p.L157L SLCO6A1_uc003kno.2_Silent_p.L157L|SLCO6A1_uc003knp.2_Silent_p.L157L|SLCO6A1_uc003knq.2_Silent_p.L157L NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 157 Helical; Name=2; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) ATATTGCTACCAGGCCAGATG 0.353 23 129 --- --- --- --- PASS FTMT 94033 broad.mit.edu 37 5 121187661 121187661 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:121187661G>A uc003kss.2 + 1 12 c.3G>A c.(1-3)ATG>ATA p.M1I NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 1 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GCGGCGCTATGCTGTCCTGCT 0.687 10 65 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140166707 140166707 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:140166707G>A uc003lhb.2 + 1 832 c.832G>A c.(832-834)GTC>ATC p.V278I PCDHA1_uc003lha.2_Missense_Mutation_p.V278I|PCDHA1_uc003lgz.2_Missense_Mutation_p.V278I NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 278 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) TGGTGAAGTCGTCTTTTCCTT 0.388 21 144 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140589822 140589822 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:140589822C>A uc003liz.2 + 1 1532 c.1343C>A c.(1342-1344)GCC>GAC p.A448D PCDHB12_uc011dak.1_Missense_Mutation_p.A111D NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 448 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGACAACGCCCCCGCCTTC 0.607 17 84 --- --- --- --- PASS PCDHGB6 56100 broad.mit.edu 37 5 140789620 140789620 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:140789620C>T uc003lkj.1 + 1 1851 c.1851C>T c.(1849-1851)TTC>TTT p.F617F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.F617F NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 617 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGACTCTTCAGCCTGGGGC 0.687 5 26 --- --- --- --- PASS PCDHGB6 56100 broad.mit.edu 37 5 140789936 140789936 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:140789936A>G uc003lkj.1 + 1 2167 c.2167A>G c.(2167-2169)ACT>GCT p.T723A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.T723A|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 723 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCCCTGCTACTTGGGACTG 0.537 24 151 --- --- --- --- PASS WWC1 23286 broad.mit.edu 37 5 167855776 167855776 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:167855776A>G uc003lzu.2 + 13 2077 c.1984A>G c.(1984-1986)ATT>GTT p.I662V WWC1_uc003lzv.2_Missense_Mutation_p.I662V|WWC1_uc011den.1_Missense_Mutation_p.I662V|WWC1_uc003lzw.2_Missense_Mutation_p.I461V|WWC1_uc010jjf.1_5'Flank NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 662 C2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TGCGACCCGAATTCAGATTGC 0.547 13 48 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168119667 168119667 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:168119667C>G uc003mab.2 - 29 3541 c.3121G>C c.(3121-3123)GAG>CAG p.E1041Q SLIT3_uc010jjg.2_Missense_Mutation_p.E1048Q NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1041 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGTTCAGCTCAGGCACACAG 0.577 11 105 --- --- --- --- PASS BTNL8 79908 broad.mit.edu 37 5 180377429 180377429 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr5:180377429C>A uc003mmp.2 + 8 1622 c.1388C>A c.(1387-1389)ACC>AAC p.T463N BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.T338N|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.T347N|BTNL8_uc011dhh.1_Missense_Mutation_p.T279N NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 463 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCCCAGTCACCCAGGAATCA 0.517 47 242 --- --- --- --- PASS FOXC1 2296 broad.mit.edu 37 6 1612301 1612301 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:1612301C>T uc003mtp.2 + 1 1621 c.1621C>T c.(1621-1623)CGC>TGC p.R541C NM_001453 NP_001444 Q12948 FOXC1_HUMAN forkhead box C1 541 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|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|transcription regulatory region DNA binding ovary(1) 1 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) GTCTCTGTACCGCACGTCCGG 0.512 13 62 --- --- --- --- PASS TBC1D7 51256 broad.mit.edu 37 6 13327088 13327088 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:13327088C>T uc003naj.2 - 2 134 c.43G>A c.(43-45)GAG>AAG p.E15K TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.E15K|TBC1D7_uc003nal.2_Missense_Mutation_p.E15K|TBC1D7_uc003nam.2_Missense_Mutation_p.E15K|TBC1D7_uc003nao.2_Missense_Mutation_p.E15K|TBC1D7_uc010jpd.2_Missense_Mutation_p.E15K|TBC1D7_uc003nap.2_Missense_Mutation_p.E15K|TBC1D7_uc003naq.2_Missense_Mutation_p.E15K NM_016495 NP_057579 Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 isoform a 15 positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity ovary(1) 1 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) CCCACTTTCTCATAATATACT 0.378 13 130 --- --- --- --- PASS HIST1H2BG 8339 broad.mit.edu 37 6 26216643 26216643 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:26216643C>G uc003ngz.2 - 1 230 c.229G>C c.(229-231)GAG>CAG p.E77Q HIST1H2AE_uc003nha.1_5'Flank NM_003518 NP_003509 P62807 H2B1C_HUMAN histone cluster 1, H2bg 77 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) CGGGAAGCCTCGCCTGCGATG 0.572 39 184 --- --- --- --- PASS FLOT1 10211 broad.mit.edu 37 6 30707977 30707977 + Silent SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:30707977G>C uc003nrm.2 - 8 845 c.681C>G c.(679-681)GTC>GTG p.V227V FLOT1_uc011dmr.1_Silent_p.V179V NM_005803 NP_005794 O75955 FLOT1_HUMAN flotillin 1 227 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction 0 GGCGGGTGTTGACCTCGATGT 0.572 18 52 --- --- --- --- PASS HLA-C 3107 broad.mit.edu 37 6 31237800 31237800 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:31237800C>A uc003nsy.2 - 5 965 c.958G>T c.(958-960)GTC>TTC p.V320F HLA-C_uc011dnj.1_Missense_Mutation_p.V292F|HLA-C_uc003nsx.2_Missense_Mutation_p.V199F|HLA-C_uc003nsz.2_Missense_Mutation_p.V320F|HLA-C_uc010jsl.2_Missense_Mutation_p.V320F|HLA-C_uc003nta.2_Missense_Mutation_p.V320F|HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Missense_Mutation_p.V199F NM_002117 NP_002108 Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 320 Helical; (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex 0 ACAGCTAGGACAACCAGGACA 0.597 10 39 --- --- --- --- PASS LY6G5B 58496 broad.mit.edu 37 6 31639832 31639832 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:31639832C>T uc003nvt.1 + 3 379 c.379C>T c.(379-381)CCT>TCT p.P127S CSNK2B_uc003nvs.1_3'UTR NM_021221 NP_067044 Q8NDX9 LY65B_HUMAN lymphocyte antigen 6 complex G5B precursor 127 extracellular region 0 CCTGGCCCTGCCTCTGTCTGA 0.612 22 64 --- --- --- --- PASS UHRF1BP1 54887 broad.mit.edu 37 6 34804081 34804081 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:34804081G>T uc003oju.3 + 8 1223 c.989G>T c.(988-990)CGC>CTC p.R330L UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 330 ovary(3) 3 CTCATCTCCCGCCTGGACCTG 0.582 44 179 --- --- --- --- PASS C6orf127 340204 broad.mit.edu 37 6 35755727 35755727 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:35755727C>G uc003old.3 + 3 363 c.306C>G c.(304-306)ATC>ATG p.I102M NM_001010886 NP_001010886 A2RUU4 CF127_HUMAN hypothetical protein LOC340204 precursor 102 digestion|lipid catabolic process extracellular region enzyme activator activity skin(1) 1 GGCTTAGCATCGCCTATGGCC 0.483 13 122 --- --- --- --- PASS PGK2 5232 broad.mit.edu 37 6 49754754 49754754 + Nonsense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:49754754G>T uc003ozu.2 - 1 254 c.147C>A c.(145-147)TAC>TAA p.Y49* NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 49 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) TGTCCAGGCAGTACTTGATGC 0.473 25 185 --- --- --- --- PASS DEFB112 245915 broad.mit.edu 37 6 50011472 50011472 + Nonsense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:50011472G>C uc011dws.1 - 2 158 c.158C>G c.(157-159)TCA>TGA p.S53* NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN beta-defensin 112 precursor 53 defense response to bacterium extracellular region central_nervous_system(1) 1 Lung NSC(77;0.042) CGCTGTACATGACTTCCACCT 0.418 24 170 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51934297 51934297 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:51934297T>C uc003pah.1 - 11 1012 c.736A>G c.(736-738)ATC>GTC p.I246V PKHD1_uc003pai.2_Missense_Mutation_p.I246V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 246 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TTAGCACTGATCAGCCATGCC 0.448 19 200 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75833800 75833800 + Silent SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:75833800T>C uc003phs.2 - 42 6901 c.6735A>G c.(6733-6735)GGA>GGG p.G2245G COL12A1_uc003pht.2_Silent_p.G1081G NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2245 Fibronectin type-III 18. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TAATTTCTTGTCCCCTTGTTC 0.383 27 114 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75875447 75875447 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:75875447G>A uc003phs.2 - 14 2925 c.2759C>T c.(2758-2760)TCA>TTA p.S920L COL12A1_uc003pht.2_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 920 Fibronectin type-III 6. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 AGCCCCAATTGATGTGTCAGT 0.378 21 160 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75887482 75887482 + Silent SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:75887482T>C uc003phs.2 - 12 2500 c.2334A>G c.(2332-2334)ACA>ACG p.T778T COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.T436T NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 778 Fibronectin type-III 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 AGTTCTCCAGTGTTCTCCTCC 0.433 100 596 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76728496 76728496 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:76728496G>A uc003pik.1 - 7 876 c.746C>T c.(745-747)GCA>GTA p.A249V NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 249 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AGCGAGCTCTGCCTTGAACTT 0.493 24 136 --- --- --- --- PASS AKD1 221264 broad.mit.edu 37 6 109819062 109819062 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:109819062C>G uc003ptn.2 - 37 5230 c.5153G>C c.(5152-5154)CGA>CCA p.R1718P AKD1_uc011eas.1_Missense_Mutation_p.R103P NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1718 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 CTTAGGGAATCGACTCTTCAG 0.493 17 155 --- --- --- --- PASS WASF1 8936 broad.mit.edu 37 6 110423414 110423414 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:110423414G>A uc003ptv.1 - 10 1736 c.899C>T c.(898-900)GCT>GTT p.A300V WASF1_uc003ptw.1_Missense_Mutation_p.A300V|WASF1_uc003ptx.1_Missense_Mutation_p.A300V|WASF1_uc003pty.1_Missense_Mutation_p.A300V NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 300 actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) CAAACCTGTAGCAGAACTGAA 0.418 34 178 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117198459 117198459 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:117198459G>T uc003pxm.2 + 1 84 c.21G>T c.(19-21)CTG>CTT p.L7L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 7 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 TCCCGGAGCTGGAAGACACCT 0.642 3 31 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117237368 117237368 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:117237368A>G uc003pxm.2 + 9 926 c.863A>G c.(862-864)CAG>CGG p.Q288R NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 288 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 AACTAGATCCAGCATTTTTTA 0.323 29 204 --- --- --- --- PASS GOPC 57120 broad.mit.edu 37 6 117896345 117896345 + Silent SNP T G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:117896345T>G uc003pxu.2 - 4 875 c.645A>C c.(643-645)GCA>GCC p.A215A GOPC_uc003pxq.1_5'Flank|GOPC_uc003pxv.2_Silent_p.A207A NM_020399 NP_065132 Q9HD26 GOPC_HUMAN golgi associated PDZ and coiled-coil motif 215 apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle cystic fibrosis transmembrane conductance regulator binding ovary(1) 1 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) CACACCTTCCTGCCAGTTCCT 0.353 O ROS1 glioblastoma 27 124 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152650936 152650936 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:152650936C>A uc010kiw.2 - 78 15486 c.14884G>T c.(14884-14886)GAT>TAT p.D4962Y SYNE1_uc003qot.3_Missense_Mutation_p.D4891Y|SYNE1_uc003qou.3_Missense_Mutation_p.D4962Y|SYNE1_uc010kiz.2_Missense_Mutation_p.D717Y NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4962 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGTTCTAAATCCGCAGAAATC 0.483 HNSCC(10;0.0054) 45 362 --- --- --- --- PASS NOX3 50508 broad.mit.edu 37 6 155728352 155728352 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:155728352C>T uc003qqm.2 - 12 1595 c.1492G>A c.(1492-1494)GAC>AAC p.D498N NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 498 Cytoplasmic (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GTAATCACGTCAGTATTTTCG 0.388 14 90 --- --- --- --- PASS TULP4 56995 broad.mit.edu 37 6 158882724 158882724 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:158882724G>T uc003qrf.2 + 6 2346 c.989G>T c.(988-990)CGT>CTT p.R330L TULP4_uc011efo.1_Missense_Mutation_p.R330L|TULP4_uc003qrg.2_Missense_Mutation_p.R330L NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 330 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TACAATGTTCGTGGGGAGCAC 0.483 25 131 --- --- --- --- PASS TULP4 56995 broad.mit.edu 37 6 158924188 158924188 + Nonsense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:158924188C>T uc003qrf.2 + 13 4850 c.3493C>T c.(3493-3495)CGA>TGA p.R1165* TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 1165 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GGACGTGTCCCGACTGCCCTT 0.557 16 155 --- --- --- --- PASS SLC22A2 6582 broad.mit.edu 37 6 160664782 160664782 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr6:160664782C>G uc003qtf.2 - 7 1271 c.1101G>C c.(1099-1101)ATG>ATC p.M367I SLC22A2_uc003qte.1_Missense_Mutation_p.M367I NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 367 Helical; (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GGCCCATGTGCATGATGAGGC 0.517 8 81 --- --- --- --- PASS FBXL18 80028 broad.mit.edu 37 7 5545180 5545180 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:5545180C>T uc003soo.2 - 2 194 c.100G>A c.(100-102)GAG>AAG p.E34K FBXL18_uc003son.3_Missense_Mutation_p.E34K NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 34 F-box. 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) AGGAGGATCTCATCAGAGAAC 0.552 24 118 --- --- --- --- PASS USP42 84132 broad.mit.edu 37 7 6187427 6187427 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:6187427G>C uc011jwo.1 + 12 1413 c.1290G>C c.(1288-1290)CAG>CAC p.Q430H USP42_uc010kth.1_Missense_Mutation_p.Q363H|USP42_uc011jwp.1_Missense_Mutation_p.Q430H|USP42_uc011jwq.1_Missense_Mutation_p.Q237H|USP42_uc011jwr.1_Missense_Mutation_p.Q275H NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 430 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) GCCCCGGCCAGTCCTCTCCCC 0.542 20 120 --- --- --- --- PASS ITGB8 3696 broad.mit.edu 37 7 20403298 20403298 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:20403298G>A uc003suu.2 + 2 871 c.166G>A c.(166-168)GCC>ACC p.A56T ITGB8_uc011jyh.1_5'UTR|ITGB8_uc003sut.2_Missense_Mutation_p.A56T NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 56 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 AGCATCCTGTGCCAGGTGCCT 0.393 8 64 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21639650 21639650 + Missense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:21639650T>A uc003svc.2 + 15 2944 c.2913T>A c.(2911-2913)GAT>GAA p.D971E NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 971 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GCTTCTATGATCTTGTAGAAG 0.393 Kartagener_syndrome 5 57 --- --- --- --- PASS JAZF1 221895 broad.mit.edu 37 7 27934861 27934861 + Silent SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:27934861T>C uc003szn.2 - 3 604 c.363A>G c.(361-363)TCA>TCG p.S121S JAZF1_uc003szm.2_Silent_p.S57S NM_175061 NP_778231 Q86VZ6 JAZF1_HUMAN JAZF zinc finger 1 121 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcriptional repressor complex nucleic acid binding|transcription corepressor activity|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 TGCTGCGGAATGAAGAGGAGG 0.612 T SUZ12 endometrial stromal tumours 5 32 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43484409 43484409 + Silent SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:43484409C>A uc003tid.1 + 11 2243 c.1638C>A c.(1636-1638)ATC>ATA p.I546I HECW1_uc011kbi.1_Silent_p.I546I NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 546 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AGACGGTGATCGCGTCAGCCT 0.687 4 68 --- --- --- --- PASS SEMA3C 10512 broad.mit.edu 37 7 80378307 80378307 + Silent SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:80378307T>C uc003uhj.2 - 17 2311 c.1749A>G c.(1747-1749)GTA>GTG p.V583V SEMA3C_uc011kgw.1_Silent_p.V601V NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 583 Ig-like C2-type. immune response|response to drug membrane receptor activity ovary(1) 1 TGTTATTTTTTACTCCATACT 0.423 18 102 --- --- --- --- PASS SEMA3A 10371 broad.mit.edu 37 7 83636776 83636776 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:83636776T>C uc003uhz.2 - 10 1348 c.1033A>G c.(1033-1035)ATG>GTG p.M345V NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 345 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 ACATCACTCATGCTATACATA 0.433 20 109 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86468931 86468931 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:86468931G>T uc003uid.2 + 4 3200 c.2101G>T c.(2101-2103)GTG>TTG p.V701L GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.V573L|GRM3_uc010leh.2_Missense_Mutation_p.V293L NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 701 Helical; Name=4; (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGTGCAAATTGTGATGGTGTC 0.522 9 100 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91630969 91630969 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:91630969G>C uc003ulg.2 + 8 1963 c.1738G>C c.(1738-1740)GAA>CAA p.E580Q AKAP9_uc003ule.2_Missense_Mutation_p.E592Q|AKAP9_uc003ulf.2_Missense_Mutation_p.E580Q|AKAP9_uc003uli.2_Missense_Mutation_p.E205Q NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 592 Glu-rich.|Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTCTGCATCTGAATCCAGAAA 0.333 T BRAF papillary thyroid 23 147 --- --- --- --- PASS PON1 5444 broad.mit.edu 37 7 94937332 94937332 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:94937332G>T uc003uns.2 - 6 786 c.689C>A c.(688-690)CCC>CAC p.P230H PON1_uc011kih.1_Missense_Mutation_p.P230H NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 230 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) CTTGCCATCGGGTGAAATGTT 0.358 15 106 --- --- --- --- PASS PON1 5444 broad.mit.edu 37 7 94937345 94937345 + Missense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:94937345T>A uc003uns.2 - 6 773 c.676A>T c.(676-678)ATC>TTC p.I226F PON1_uc011kih.1_Missense_Mutation_p.I226F NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 226 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GAAATGTTGATTCCATTAGCA 0.383 16 107 --- --- --- --- PASS CYP3A4 1576 broad.mit.edu 37 7 99358583 99358583 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:99358583G>T uc003urv.1 - 12 1379 c.1275C>A c.(1273-1275)GAC>GAA p.D425E CYP3A4_uc003urw.1_Missense_Mutation_p.D424E|CYP3A4_uc011kiz.1_Missense_Mutation_p.D384E|CYP3A4_uc011kja.1_Missense_Mutation_p.D376E|CYP3A4_uc011kjb.1_Missense_Mutation_p.D275E NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 425 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) GATCTATGTTGTCCTTGTTCT 0.388 49 347 --- --- --- --- PASS ZSCAN21 7589 broad.mit.edu 37 7 99661526 99661526 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:99661526C>G uc003uso.2 + 4 852 c.708C>G c.(706-708)AGC>AGG p.S236R ZSCAN21_uc003usn.1_Missense_Mutation_p.S235R NM_145914 NP_666019 Q9Y5A6 ZSC21_HUMAN zinc finger protein 38 236 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CTGAGGCCAGCTTAGAGAGGC 0.463 5 159 --- --- --- --- PASS GATS 352954 broad.mit.edu 37 7 99831237 99831237 + Silent SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:99831237T>C uc003uua.3 - 2 456 c.207A>G c.(205-207)GAA>GAG p.E69E GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc010lgu.2_RNA NM_178831 NP_849153 Q8NAP1 GATS_HUMAN GATS, stromal antigen 3 opposite strand 69 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTAGGAATCCTTCCTCATCGA 0.517 25 185 --- --- --- --- PASS COG5 10466 broad.mit.edu 37 7 106938787 106938787 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:106938787C>T uc003ved.2 - 12 1731 c.1206G>A c.(1204-1206)TCG>TCA p.S402S COG5_uc003vec.2_Silent_p.S402S|COG5_uc003vee.2_Silent_p.S402S NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 402 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 TCAAAAACATCGAAGCTGCCA 0.318 19 71 --- --- --- --- PASS C7orf58 79974 broad.mit.edu 37 7 120906456 120906456 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:120906456C>T uc003vjq.3 + 19 2933 c.2486C>T c.(2485-2487)TCA>TTA p.S829L NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 829 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) ATAAGCCCTTCATTGAGACCA 0.393 40 228 --- --- --- --- PASS GCC1 79571 broad.mit.edu 37 7 127224785 127224785 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:127224785C>A uc003vma.2 - 1 870 c.452G>T c.(451-453)GGT>GTT p.G151V NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 151 Golgi membrane|plasma membrane protein binding ovary(2) 2 CACCTCCCCACCTGCAAATGG 0.572 29 181 --- --- --- --- PASS SND1 27044 broad.mit.edu 37 7 127727088 127727088 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:127727088C>T uc003vmi.2 + 21 2629 c.2403C>T c.(2401-2403)ATC>ATT p.I801I SND1_uc010lle.2_Silent_p.I454I NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 801 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 TCGCCTTCATCCAGGTGCCCC 0.592 10 57 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 132193188 132193188 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:132193188C>G uc003vra.3 - 2 494 c.265G>C c.(265-267)GAC>CAC p.D89H PLXNA4_uc003vrc.2_Missense_Mutation_p.D89H|PLXNA4_uc003vrb.2_Missense_Mutation_p.D89H NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 89 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane p.D89Y(1) ovary(1) 1 TTGTCCTCGTCCGGCCCTGTC 0.552 8 97 --- --- --- --- PASS LRGUK 136332 broad.mit.edu 37 7 133812405 133812405 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:133812405G>T uc003vrm.1 + 1 301 c.285G>T c.(283-285)ATG>ATT p.M95I NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 95 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 AGTCCGAAATGCTGAATTTGG 0.642 11 51 --- --- --- --- PASS TMEM140 55281 broad.mit.edu 37 7 134849576 134849576 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:134849576C>T uc003vsi.2 + 2 664 c.383C>T c.(382-384)GCA>GTA p.A128V C7orf49_uc003vsh.2_Intron NM_018295 NP_060765 Q9NV12 TM140_HUMAN transmembrane protein 140 128 Helical; (Potential). integral to membrane large_intestine(1) 1 GTGCTGCTGGCAGGCGGCCTG 0.652 8 46 --- --- --- --- PASS OR6V1 346517 broad.mit.edu 37 7 142749826 142749826 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:142749826A>T uc011ksv.1 + 1 389 c.389A>T c.(388-390)TAT>TTT p.Y130F NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) CCACTGCGCTATGGCACTCTG 0.592 38 172 --- --- --- --- PASS ZNF425 155054 broad.mit.edu 37 7 148802388 148802388 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:148802388C>A uc003wfj.2 - 4 648 c.575G>T c.(574-576)TGC>TTC p.C192F NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 192 C2H2-type 1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACAGACATAGCAGGAATAGCA 0.498 16 120 --- --- --- --- PASS NCAPG2 54892 broad.mit.edu 37 7 158455040 158455040 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr7:158455040G>A uc003wnv.1 - 16 1980 c.1835C>T c.(1834-1836)TCA>TTA p.S612L NCAPG2_uc010lqu.1_Missense_Mutation_p.S404L|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.S612L|NCAPG2_uc011kwe.1_Missense_Mutation_p.S612L|NCAPG2_uc011kwc.1_Missense_Mutation_p.S113L|NCAPG2_uc011kwd.1_Intron NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 612 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) ATCGTTTACTGACAGTGTTTT 0.338 16 114 --- --- --- --- PASS MFHAS1 9258 broad.mit.edu 37 8 8750069 8750069 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:8750069A>G uc003wsj.1 - 1 1063 c.500T>C c.(499-501)TTT>TCT p.F167S NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 167 LRR 5. 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CAGCCGGTTAAAGCTGACATC 0.677 3 15 --- --- --- --- PASS MTMR9 66036 broad.mit.edu 37 8 11167123 11167123 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:11167123G>A uc003wtm.2 + 6 1295 c.897G>A c.(895-897)TTG>TTA p.L299L MTMR9_uc010lrx.2_Silent_p.L192L|MTMR9_uc011kxa.1_Silent_p.L214L NM_015458 NP_056273 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 299 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding 0 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) TCAGTAAATTGGAGGCCTCTA 0.443 14 90 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39606913 39606913 + Nonsense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:39606913G>T uc003xnj.2 - 18 2007 c.1932C>A c.(1930-1932)TGC>TGA p.C644* ADAM2_uc003xnk.2_Nonsense_Mutation_p.C625*|ADAM2_uc011lck.1_Nonsense_Mutation_p.C581*|ADAM2_uc003xnl.2_Nonsense_Mutation_p.C488* NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 644 Extracellular (Potential).|EGF-like. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ATTGAACTGAGCAATCTGGAG 0.383 10 187 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41798770 41798770 + Nonsense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:41798770C>A uc010lxb.2 - 16 3173 c.2629G>T c.(2629-2631)GAA>TAA p.E877* MYST3_uc010lxc.2_Nonsense_Mutation_p.E877*|MYST3_uc003xon.3_Nonsense_Mutation_p.E877* NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 877 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) CCAAAACGTTCCTGGGTTTTT 0.483 13 108 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43152602 43152602 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:43152602G>T uc003xpz.1 + 3 631 c.588G>T c.(586-588)AAG>AAT p.K196N POTEA_uc003xqa.1_Missense_Mutation_p.K196N NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 196 ovary(1) 1 CAAAAAACAAGGTACAGATCT 0.338 6 93 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52321575 52321575 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:52321575G>C uc003xqu.3 - 17 2710 c.2609C>G c.(2608-2610)GCC>GGC p.A870G PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 870 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) ACGGCCGCTGGCACACGCGGG 0.647 3 36 --- --- --- --- PASS CLVS1 157807 broad.mit.edu 37 8 62212755 62212755 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:62212755C>G uc003xuh.2 + 2 693 c.369C>G c.(367-369)ATC>ATG p.I123M CLVS1_uc003xug.2_Missense_Mutation_p.I123M|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.I123M NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 123 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 GGGCTCTGATCGATGGGTTCC 0.488 28 75 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 68968096 68968096 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:68968096G>T uc003xxv.1 + 10 1152 c.1125G>T c.(1123-1125)TGG>TGT p.W375C PREX2_uc003xxu.1_Missense_Mutation_p.W375C|PREX2_uc011lez.1_Missense_Mutation_p.W310C NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 375 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 AAGATACCTGGGTCATGATCT 0.353 57 109 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618685 77618685 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:77618685A>T uc003yav.2 + 2 2749 c.2362A>T c.(2362-2364)AGC>TGC p.S788C ZFHX4_uc003yat.1_Missense_Mutation_p.S788C|ZFHX4_uc003yau.1_Missense_Mutation_p.S788C|ZFHX4_uc003yaw.1_Missense_Mutation_p.S788C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 788 C2H2-type 4; degenerate. 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) TCATATGACCAGCGAAAAGCA 0.493 HNSCC(33;0.089) 3 35 --- --- --- --- PASS DPY19L4 286148 broad.mit.edu 37 8 95751682 95751682 + Nonsense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:95751682A>T uc003ygx.2 + 5 509 c.385A>T c.(385-387)AAG>TAG p.K129* DPY19L4_uc003ygy.2_Nonsense_Mutation_p.K66* NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 129 integral to membrane ovary(2) 2 Breast(36;3.85e-06) TGTATCTCTGAAGACTATAAA 0.348 59 130 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104898074 104898074 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:104898074G>T uc003yls.2 + 2 822 c.581G>T c.(580-582)CGA>CTA p.R194L RIMS2_uc003ylp.2_Missense_Mutation_p.R416L|RIMS2_uc003ylw.2_Missense_Mutation_p.R224L|RIMS2_uc003ylq.2_Missense_Mutation_p.R224L|RIMS2_uc003ylr.2_Missense_Mutation_p.R224L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 447 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) GAAAGAACTCGAGAGGCTCAG 0.463 HNSCC(12;0.0054) 30 84 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110477264 110477264 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:110477264G>T uc003yne.2 + 49 8307 c.8203G>T c.(8203-8205)GGC>TGC p.G2735C NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2735 Extracellular (Potential).|PbH1 4. 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) ATTTAGTGAAGGCTTGACTGT 0.458 HNSCC(38;0.096) 61 196 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113323290 113323290 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:113323290C>T uc003ynu.2 - 50 7961 c.7802G>A c.(7801-7803)CGA>CAA p.R2601Q CSMD3_uc003yns.2_Missense_Mutation_p.R1803Q|CSMD3_uc003ynt.2_Missense_Mutation_p.R2561Q|CSMD3_uc011lhx.1_Missense_Mutation_p.R2497Q|CSMD3_uc003ynw.1_Missense_Mutation_p.R312Q NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2601 Extracellular (Potential).|Sushi 14. integral to membrane|plasma membrane p.R2601L(1) 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 TCCAACAAGTCGGAATCCTCG 0.493 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 154 --- --- --- --- PASS C8orf76 84933 broad.mit.edu 37 8 124253547 124253547 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:124253547C>G uc003yqc.1 - 1 71 c.40G>C c.(40-42)GAC>CAC p.D14H C8orf76_uc003yqd.2_Intron NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 14 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AACACCGAGTCCTCGAACTCG 0.711 3 28 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133044247 133044247 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:133044247C>T uc003ytg.2 - 11 912 c.912G>A c.(910-912)GTG>GTA p.V304V OC90_uc011lix.1_Silent_p.V304V NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 320 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GCTGTGGCATCACCTGCATGT 0.537 8 181 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139601598 139601598 + Silent SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:139601598A>T uc003yvd.2 - 65 5226 c.4779T>A c.(4777-4779)CCT>CCA p.P1593P COL22A1_uc011ljo.1_Silent_p.P873P NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1593 Pro-rich.|Gly-rich.|Collagen-like 16. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTGGGAGGCCAGGATGTCCAG 0.637 HNSCC(7;0.00092) 5 47 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139610962 139610962 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:139610962C>A uc003yvd.2 - 61 4812 c.4365G>T c.(4363-4365)AGG>AGT p.R1455S COL22A1_uc011ljo.1_Missense_Mutation_p.R735S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1455 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCATCCTTACCCTCAGTCCTG 0.493 HNSCC(7;0.00092) 4 162 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139629157 139629157 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:139629157C>T uc003yvd.2 - 54 4317 c.3870G>A c.(3868-3870)CGG>CGA p.R1290R COL22A1_uc011ljo.1_Silent_p.R570R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1290 Pro-rich.|Gly-rich.|Collagen-like 12. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCCACTTACCCGGGGACCGG 0.572 HNSCC(7;0.00092) 40 81 --- --- --- --- PASS TRAPPC9 83696 broad.mit.edu 37 8 141370151 141370151 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:141370151T>C uc003yvj.2 - 9 1627 c.1493A>G c.(1492-1494)CAG>CGG p.Q498R TRAPPC9_uc003yvh.2_Missense_Mutation_p.Q596R|TRAPPC9_uc003yvi.1_Missense_Mutation_p.Q489R NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 498 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 TCACTCACCCTGATCCGACAA 0.498 55 84 --- --- --- --- PASS CYC1 1537 broad.mit.edu 37 8 145151528 145151528 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:145151528A>T uc003zaz.3 + 5 696 c.653A>T c.(652-654)TAC>TTC p.Y218F CYC1_uc003zay.2_Missense_Mutation_p.Y159F NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 218 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTCACGGGCTACTGCGAGCCA 0.587 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 152 --- --- --- --- PASS KIFC2 90990 broad.mit.edu 37 8 145698044 145698044 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr8:145698044C>T uc003zcz.2 + 16 1881 c.1816C>T c.(1816-1818)CTG>TTG p.L606L KIFC2_uc003zda.2_5'UTR NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 606 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCTGGTCACGCTGACGCTGCG 0.731 13 29 --- --- --- --- PASS IFNB1 3456 broad.mit.edu 37 9 21077471 21077471 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr9:21077471G>A uc003zok.2 - 1 473 c.398C>T c.(397-399)ACC>ATC p.T133I NM_002176 NP_002167 P01574 IFNB_HUMAN interferon, beta 1, fibroblast precursor 133 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity ovary(1)|breast(1)|kidney(1) 3 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) TTTTCCCCTGGTGAAATCTTC 0.438 57 301 --- --- --- --- PASS FXN 2395 broad.mit.edu 37 9 71687670 71687670 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr9:71687670G>C uc004aha.2 + 5 845 c.625G>C c.(625-627)GAT>CAT p.D209H FXN_uc011lrr.1_Intron|FXN_uc004agz.2_3'UTR NM_000144 NP_000135 Q16595 FRDA_HUMAN frataxin isoform 1 preproprotein 209 cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion cytosol|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding 0 TTCCGGAAAAGATGCTTGATG 0.473 12 76 --- --- --- --- PASS KIF27 55582 broad.mit.edu 37 9 86498736 86498736 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr9:86498736T>C uc004ana.2 - 10 2581 c.2437A>G c.(2437-2439)AGA>GGA p.R813G KIF27_uc010mpw.2_Missense_Mutation_p.R813G|KIF27_uc010mpx.2_Missense_Mutation_p.R813G NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 813 Potential. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 ACCTGAACTCTCAGCTTTGCA 0.348 22 86 --- --- --- --- PASS EPB41L4B 54566 broad.mit.edu 37 9 111979247 111979247 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr9:111979247C>G uc004bdz.1 - 16 1883 c.1588G>C c.(1588-1590)GAG>CAG p.E530Q NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 530 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 AGAGGCCCCTCTTTGTTCTCC 0.463 36 153 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 119115100 119115100 + Silent SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr9:119115100C>A uc004bjn.2 + 16 4461 c.4080C>A c.(4078-4080)GCC>GCA p.A1360A PAPPA_uc011lxq.1_Silent_p.A735A NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1360 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TCCAGACCGCCCGGTGCCGAG 0.572 12 83 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135224757 135224757 + Missense_Mutation SNP C A A rs79740039 byFrequency TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr9:135224757C>A uc004cbk.2 - 3 242 c.59G>T c.(58-60)CGC>CTC p.R20L NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 20 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) GGAAGCATAGCGCTTTAGGAA 0.483 17 64 --- --- --- --- PASS ABCA2 20 broad.mit.edu 37 9 139905173 139905173 + Missense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr9:139905173T>A uc011mem.1 - 39 6218 c.6070A>T c.(6070-6072)ACC>TCC p.T2024S ABCA2_uc011mel.1_Missense_Mutation_p.T2025S|ABCA2_uc004ckl.1_Missense_Mutation_p.T1955S|ABCA2_uc004ckm.1_Missense_Mutation_p.T2055S NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 2024 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ACAGGCTTGGTAGACACAGGC 0.632 18 59 --- --- --- --- PASS EXD3 54932 broad.mit.edu 37 9 140246640 140246640 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr9:140246640C>G uc004cmp.2 - 12 1247 c.1051G>C c.(1051-1053)GAC>CAC p.D351H C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Missense_Mutation_p.D31H|EXD3_uc004cmq.1_RNA NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 351 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 AGCCTCGAGTCAGCCTCAGTC 0.647 16 94 --- --- --- --- PASS GDF2 2658 broad.mit.edu 37 10 48413671 48413671 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:48413671G>T uc001jfa.1 - 2 1360 c.1197C>A c.(1195-1197)AGC>AGA p.S399R NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 399 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 CGGAGATGGGGCTCAGTTTGG 0.582 5 47 --- --- --- --- PASS ASAH2 56624 broad.mit.edu 37 10 52008313 52008313 + Missense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:52008313T>A uc001jjd.2 - 1 58 c.58A>T c.(58-60)ATG>TTG p.M20L ASAH2_uc009xos.2_Missense_Mutation_p.M20L NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 20 Helical; Signal-anchor for type II membrane protein; (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 ATGGCACTCATCATTACAAGG 0.448 16 117 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55782810 55782810 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:55782810C>A uc001jju.1 - 19 2763 c.2368G>T c.(2368-2370)GTG>TTG p.V790L PCDH15_uc010qhq.1_Missense_Mutation_p.V795L|PCDH15_uc010qhr.1_Missense_Mutation_p.V790L|PCDH15_uc010qhs.1_Missense_Mutation_p.V802L|PCDH15_uc010qht.1_Missense_Mutation_p.V797L|PCDH15_uc010qhu.1_Missense_Mutation_p.V790L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.V790L|PCDH15_uc010qhw.1_Missense_Mutation_p.V753L|PCDH15_uc010qhx.1_Missense_Mutation_p.V719L|PCDH15_uc010qhy.1_Missense_Mutation_p.V795L|PCDH15_uc010qhz.1_Missense_Mutation_p.V790L|PCDH15_uc010qia.1_Missense_Mutation_p.V768L|PCDH15_uc010qib.1_Missense_Mutation_p.V768L|PCDH15_uc001jjw.2_Missense_Mutation_p.V790L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 790 Extracellular (Potential).|Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCTGTTGCCACAACAACAAGT 0.418 HNSCC(58;0.16) 23 151 --- --- --- --- PASS ZNF365 22891 broad.mit.edu 37 10 64415325 64415325 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:64415325G>T uc001jmd.1 + 4 659 c.325G>T c.(325-327)GCA>TCA p.A109S ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron NM_199452 NP_955524 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform D 109 ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GAATACACTTGCAGAGTCGTG 0.507 22 98 --- --- --- --- PASS SEC24C 9632 broad.mit.edu 37 10 75519797 75519797 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:75519797C>T uc001juw.2 + 6 682 c.503C>T c.(502-504)TCA>TTA p.S168L SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Missense_Mutation_p.S26L|SEC24C_uc001jux.2_Missense_Mutation_p.S168L|SEC24C_uc010qko.1_Missense_Mutation_p.S26L|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 168 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) TCGCTGGCTTCAGCCTCAGGA 0.532 44 190 --- --- --- --- PASS GPR120 338557 broad.mit.edu 37 10 95326724 95326724 + Missense_Mutation SNP T G G rs150044710 by1000genomes TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:95326724T>G uc010qnt.1 + 1 303 c.247T>G c.(247-249)TGC>GGC p.C83G GPR120_uc010qnu.1_Missense_Mutation_p.C83G NM_181745 NP_859529 Q5NUL3 O3FA1_HUMAN G protein-coupled receptor 120 83 Helical; Name=2; (Potential). negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport integral to membrane|plasma membrane fatty acid binding 0 Colorectal(252;0.122) CAACCTCTTCTGCGCGGACCT 0.672 8 32 --- --- --- --- PASS ABCC2 1244 broad.mit.edu 37 10 101591877 101591877 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:101591877A>T uc001kqf.2 + 23 3386 c.3247A>T c.(3247-3249)AGG>TGG p.R1083W NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 1083 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GATTGTGAACAGGTTTGCCGG 0.443 29 112 --- --- --- --- PASS CPN1 1369 broad.mit.edu 37 10 101835705 101835705 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:101835705G>A uc001kql.2 - 2 643 c.383C>T c.(382-384)TCC>TTC p.S128F NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 128 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) GGGGTTCATGGATGGCAGGAT 0.582 15 78 --- --- --- --- PASS PPRC1 23082 broad.mit.edu 37 10 103898521 103898521 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:103898521C>G uc001kum.2 + 3 527 c.488C>G c.(487-489)TCT>TGT p.S163C PPRC1_uc001kun.2_Missense_Mutation_p.S43C|PPRC1_uc010qqj.1_Missense_Mutation_p.S163C|PPRC1_uc009xxa.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 163 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) GAGGGCTCCTCTGTGAGTGTG 0.507 19 138 --- --- --- --- PASS ELOVL3 83401 broad.mit.edu 37 10 103987391 103987391 + Nonsense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:103987391C>G uc001kut.2 + 2 273 c.110C>G c.(109-111)TCA>TGA p.S37* NM_152310 NP_689523 Q9HB03 ELOV3_HUMAN elongation of very long chain fatty acids like 37 Helical; (Potential). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding ovary(2) 2 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) AGGGCAACCTCATTCCCCATA 0.532 29 302 --- --- --- --- PASS ELOVL3 83401 broad.mit.edu 37 10 103987488 103987488 + Silent SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:103987488C>G uc001kut.2 + 2 370 c.207C>G c.(205-207)CTC>CTG p.L69L NM_152310 NP_689523 Q9HB03 ELOV3_HUMAN elongation of very long chain fatty acids like 69 Helical; (Potential). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding ovary(2) 2 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CTCTCATCCTCTGGTCCTTCT 0.527 29 237 --- --- --- --- PASS INA 9118 broad.mit.edu 37 10 105037298 105037298 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:105037298G>A uc001kws.2 + 1 379 c.330G>A c.(328-330)GAG>GAA p.E110E uc001kwr.2_5'Flank|INA_uc009xxj.2_Silent_p.E110E NM_032727 NP_116116 Q16352 AINX_HUMAN internexin neuronal intermediate filament 110 Coil 1A.|Rod. E -> Q (in a breast cancer sample; somatic mutation). cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E110Q(1) ovary(1)|breast(1) 2 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) TGTTCATCGAGAAGGTGCATC 0.672 8 31 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124402788 124402788 + Silent SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:124402788C>A uc001lgk.1 + 53 7222 c.7116C>A c.(7114-7116)TCC>TCA p.S2372S DMBT1_uc001lgl.1_Silent_p.S2362S|DMBT1_uc001lgm.1_Silent_p.S1744S|DMBT1_uc009xzz.1_Silent_p.S2371S|DMBT1_uc010qtx.1_Silent_p.S1092S|DMBT1_uc009yab.1_Silent_p.S1075S|DMBT1_uc009yac.1_Silent_p.S666S NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2372 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACCCCTCTTCCCGCTGCTACC 0.607 38 166 --- --- --- --- PASS ZRANB1 54764 broad.mit.edu 37 10 126631520 126631520 + Nonsense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr10:126631520G>A uc001lic.2 + 1 829 c.458G>A c.(457-459)TGG>TAG p.W153* ZRANB1_uc010qug.1_Nonsense_Mutation_p.W179* NM_017580 NP_060050 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 153 RanBP2-type 3. positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|kidney(1) 2 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) ACACAGCACTGGACTTGCTCT 0.418 57 184 --- --- --- --- PASS HBE1 3046 broad.mit.edu 37 11 5291102 5291102 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:5291102C>T uc001mal.1 - 1 272 c.19G>A c.(19-21)GAG>AAG p.E7K HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.E7K NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 7 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCTTCTCCTCAGCAGTAAAA 0.527 7 46 --- --- --- --- PASS OR52E4 390081 broad.mit.edu 37 11 5905882 5905882 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:5905882G>T uc010qzs.1 + 1 360 c.360G>T c.(358-360)ATG>ATT p.M120I TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGTGGTCATGGCTTATGACC 0.458 37 133 --- --- --- --- PASS RRP8 23378 broad.mit.edu 37 11 6622567 6622567 + Silent SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:6622567T>A uc001med.2 - 3 808 c.729A>T c.(727-729)GCA>GCT p.A243A ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 243 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 CCAGCCGCTGTGCCATGCGGG 0.622 5 26 --- --- --- --- PASS AMPD3 272 broad.mit.edu 37 11 10514974 10514974 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:10514974G>C uc001mio.1 + 7 1353 c.1018G>C c.(1018-1020)GAG>CAG p.E340Q AMPD3_uc010rbz.1_Missense_Mutation_p.E181Q|AMPD3_uc001min.1_Missense_Mutation_p.E349Q|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.E347Q|AMPD3_uc009yfy.2_Missense_Mutation_p.E340Q NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 340 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) ATACCAGACGGAGCCTGACAG 0.607 27 115 --- --- --- --- PASS MYOD1 4654 broad.mit.edu 37 11 17741680 17741680 + Silent SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:17741680C>A uc001mni.2 + 1 571 c.351C>A c.(349-351)CGC>CGA p.R117R NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 117 Basic motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 CCACCATGCGCGAGCGGCGCC 0.662 7 14 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 21592335 21592335 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:21592335C>G uc001mqe.2 + 18 2159 c.2006C>G c.(2005-2007)ACA>AGA p.T669R NELL1_uc001mqf.2_Missense_Mutation_p.T622R|NELL1_uc009yid.2_Missense_Mutation_p.T697R|NELL1_uc010rdo.1_Missense_Mutation_p.T612R|NELL1_uc010rdp.1_Missense_Mutation_p.T382R|NELL1_uc001mqh.2_Missense_Mutation_p.T214R NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 669 VWFC 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TGCCGACGGACAGCTTGTGAT 0.428 26 130 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26677983 26677983 + Nonsense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:26677983C>A uc001mqt.3 + 26 2863 c.2718C>A c.(2716-2718)TAC>TAA p.Y906* ANO3_uc010rdr.1_Nonsense_Mutation_p.Y890*|ANO3_uc010rds.1_Nonsense_Mutation_p.Y745*|ANO3_uc010rdt.1_Nonsense_Mutation_p.Y760* NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 906 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTTTACAATACTGGCATATCC 0.378 38 179 --- --- --- --- PASS DCDC1 341019 broad.mit.edu 37 11 31329246 31329246 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:31329246G>A uc001msv.2 - 4 576 c.374C>T c.(373-375)TCT>TTT p.S125F DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 125 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) TATAGAACAAGAATTGTTTTT 0.393 54 343 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49168478 49168478 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:49168478T>C uc001ngy.2 - 19 2344 c.2083A>G c.(2083-2085)AGC>GGC p.S695G FOLH1_uc001ngx.2_Silent_p.Q94Q|FOLH1_uc001ngz.2_Missense_Mutation_p.S664G|FOLH1_uc009yly.2_Missense_Mutation_p.S680G|FOLH1_uc009ylz.2_Missense_Mutation_p.S649G|FOLH1_uc009yma.2_Missense_Mutation_p.S387G NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 695 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TTGTGGCTGCTTGGAGCATAG 0.438 73 126 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49178328 49178328 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:49178328C>G uc001ngy.2 - 15 1825 c.1564G>C c.(1564-1566)GAG>CAG p.E522Q FOLH1_uc001ngx.2_5'Flank|FOLH1_uc001ngz.2_Missense_Mutation_p.E522Q|FOLH1_uc009yly.2_Missense_Mutation_p.E507Q|FOLH1_uc009ylz.2_Missense_Mutation_p.E507Q|FOLH1_uc009yma.2_Missense_Mutation_p.E214Q NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 522 NAALADase.|Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) AAGAACACCTCAAAATCATTT 0.318 33 184 --- --- --- --- PASS OR4A16 81327 broad.mit.edu 37 11 55110699 55110699 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:55110699C>G uc010rie.1 + 1 23 c.23C>G c.(22-24)ACA>AGA p.T8R NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 AGCAATGTTACAGAATTTGTC 0.373 12 80 --- --- --- --- PASS OR4A16 81327 broad.mit.edu 37 11 55111057 55111057 + Silent SNP G C C rs76791457 byFrequency TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:55111057G>C uc010rie.1 + 1 381 c.381G>C c.(379-381)CCG>CCC p.P127P NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TCTCTAAGCCGCTGCACTATT 0.468 52 291 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861587 55861587 + Silent SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:55861587C>A uc010rix.1 + 1 804 c.804C>A c.(802-804)ACC>ACA p.T268T NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) CATCGCTGACCCAGGCGCAGG 0.458 23 154 --- --- --- --- PASS OR8H1 219469 broad.mit.edu 37 11 56057843 56057843 + Silent SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:56057843T>C uc010rje.1 - 1 696 c.696A>G c.(694-696)GGA>GGG p.G232G NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 232 Cytoplasmic (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) CTTTCTGCTTTCCTGAAGTGG 0.378 23 171 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57069961 57069961 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:57069961G>A uc001njr.2 - 6 4967 c.4655C>T c.(4654-4656)TCC>TTC p.S1552F TNKS1BP1_uc001njp.2_Missense_Mutation_p.S124F|TNKS1BP1_uc001njq.2_Missense_Mutation_p.S124F|TNKS1BP1_uc001njs.2_Missense_Mutation_p.S1552F NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1552 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) CTGACTGGGGGATCTGGCAGG 0.632 10 39 --- --- --- --- PASS TUT1 64852 broad.mit.edu 37 11 62348921 62348921 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:62348921C>T uc001nto.2 - 3 678 c.640G>A c.(640-642)GAG>AAG p.E214K NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 176 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 AGCTGCCGCTCGGCCTCGGAC 0.607 4 58 --- --- --- --- PASS SLC22A6 9356 broad.mit.edu 37 11 62747414 62747414 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:62747414G>T uc001nwk.2 - 7 1351 c.1044C>A c.(1042-1044)GCC>GCA p.A348A SLC22A6_uc001nwl.2_Silent_p.A348A|SLC22A6_uc001nwj.2_Silent_p.A348A|SLC22A6_uc001nwm.2_Silent_p.A348A NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 348 Helical; (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 CAAAGCTAGTGGCAAACCTAG 0.353 11 72 --- --- --- --- PASS NDUFS8 4728 broad.mit.edu 37 11 67800460 67800460 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:67800460G>T uc001onc.2 + 4 287 c.180G>T c.(178-180)CTG>CTT p.L60L NDUFS8_uc010rpz.1_Silent_p.L60L|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Silent_p.L60L NM_002496 NP_002487 O00217 NDUS8_HUMAN NADH dehydrogenase ubiquinone Fe-S 8 precursor 60 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) GCACCCTGCTGTGGACTGAGC 0.657 12 89 --- --- --- --- PASS PDE2A 5138 broad.mit.edu 37 11 72316271 72316271 + Splice_Site SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:72316271C>T uc010rrc.1 - 4 478 c.235_splice c.e4-1 p.E79_splice PDE2A_uc001oso.2_Splice_Site_p.E58_splice|PDE2A_uc010rra.1_Splice_Site_p.E72_splice|PDE2A_uc001osn.2_Splice_Site_p.E72_splice|PDE2A_uc010rrb.1_Splice_Site_p.E70_splice|PDE2A_uc010rrd.1_Intron NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AGACAGTTTCCTAGGACAGAA 0.577 13 54 --- --- --- --- PASS PRKRIR 5612 broad.mit.edu 37 11 76062339 76062339 + Missense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:76062339T>A uc001oxh.1 - 5 1855 c.1855A>T c.(1855-1857)ACG>TCG p.T619S PRKRIR_uc010rrz.1_Missense_Mutation_p.T444S NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 619 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 TCCTCCGACGTATTGAATTTG 0.418 46 293 --- --- --- --- PASS AMOTL1 154810 broad.mit.edu 37 11 94554932 94554932 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:94554932G>C uc001pfb.2 + 4 1528 c.1358G>C c.(1357-1359)CGG>CCG p.R453P AMOTL1_uc001pfc.2_Missense_Mutation_p.R403P NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 453 Potential. cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) GAGGAGAACCGGGTGCTTCAC 0.572 4 110 --- --- --- --- PASS CWC15 51503 broad.mit.edu 37 11 94704613 94704613 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:94704613C>A uc001pfd.3 - 3 293 c.170G>T c.(169-171)CGT>CTT p.R57L CWC15_uc009ywl.1_Missense_Mutation_p.R57L|KDM4D_uc001pfe.2_5'Flank NM_016403 NP_057487 Q9P013 CWC15_HUMAN CWC15 homolog 57 Potential. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome protein binding|RNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCTGAAGTCACGGTTACGAAC 0.403 5 32 --- --- --- --- PASS ZNF259 8882 broad.mit.edu 37 11 116649706 116649706 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:116649706C>T uc001ppp.2 - 14 1348 c.1315G>A c.(1315-1317)GAG>AAG p.E439K ZNF259_uc009yzd.2_Missense_Mutation_p.E410K|ZNF259_uc001ppq.2_Missense_Mutation_p.E369K NM_003904 NP_003895 O75312 ZPR1_HUMAN zinc finger protein 259 439 cell proliferation|signal transduction cytoplasm|nucleolus 0 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) CCTAGCTCCTCATTTTGGTCA 0.562 15 111 --- --- --- --- PASS MFRP 83552 broad.mit.edu 37 11 119216246 119216246 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr11:119216246C>A uc001pwj.2 - 5 685 c.525G>T c.(523-525)CAG>CAT p.Q175H MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.Q175H NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CTGTGGCCACCTGGATATGCC 0.582 12 91 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 863029 863029 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:863029C>G uc001qio.3 + 1 805 c.298C>G c.(298-300)CTT>GTT p.L100V WNK1_uc001qin.2_Missense_Mutation_p.L100V|WNK1_uc001qip.3_Missense_Mutation_p.L100V NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 100 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CGGCCTTCCTCTTTCCCTGCC 0.682 9 32 --- --- --- --- PASS ART4 420 broad.mit.edu 37 12 14993526 14993526 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:14993526C>T uc001rcl.1 - 2 1072 c.706G>A c.(706-708)GTA>ATA p.V236I ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.V236I NM_021071 NP_066549 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 precursor 236 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity 0 AAGTACTGTACAGGTGCACCC 0.468 19 110 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21068990 21068990 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:21068990T>C uc001rek.2 + 15 2044 c.1918T>C c.(1918-1920)TAT>CAT p.Y640H SLCO1B3_uc001rel.2_Missense_Mutation_p.Y640H|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 640 Helical; Name=12; (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) ACTTGTTTTATATATTGTTTT 0.303 14 75 --- --- --- --- PASS TMTC1 83857 broad.mit.edu 37 12 29725064 29725064 + Silent SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:29725064C>A uc001rjb.2 - 9 1656 c.1182G>T c.(1180-1182)GCG>GCT p.A394A TMTC1_uc001riz.2_Silent_p.A151A|TMTC1_uc001rja.2_Silent_p.A238A|TMTC1_uc001rjc.1_Silent_p.A456A NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 502 TPR 1. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AGTGGTAGATCGCTTCCTTGT 0.478 12 86 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43821158 43821158 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:43821158A>T uc010skx.1 - 27 4060 c.4060T>A c.(4060-4062)TGT>AGT p.C1354S ADAMTS20_uc001rno.1_Missense_Mutation_p.C472S NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1354 TSP type-1 9. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCTGGACCACATTGCTGTAAC 0.458 18 92 --- --- --- --- PASS SENP1 29843 broad.mit.edu 37 12 48440158 48440158 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:48440158C>G uc001rqx.2 - 17 2299 c.1853G>C c.(1852-1854)AGA>ACA p.R618T SENP1_uc001rqw.2_Missense_Mutation_p.R617T|SENP1_uc001rqy.2_Missense_Mutation_p.R419T|SENP1_uc001rqz.2_Missense_Mutation_p.R419T|SENP1_uc009zkx.2_Missense_Mutation_p.R618T NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 618 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) GTTGATTGGTCTGTCTTTGGT 0.443 35 178 --- --- --- --- PASS DDX23 9416 broad.mit.edu 37 12 49231121 49231121 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:49231121C>G uc001rsm.2 - 8 900 c.809G>C c.(808-810)CGG>CCG p.R270P NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 270 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 AACAAATTTCCGGTCATTGAG 0.512 12 130 --- --- --- --- PASS RHEBL1 121268 broad.mit.edu 37 12 49460814 49460814 + Nonsense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:49460814G>C uc001rtc.1 - 3 336 c.129C>G c.(127-129)TAC>TAG p.Y43* RHEBL1_uc001rtd.1_Nonsense_Mutation_p.Y39*|RHEBL1_uc009zlc.1_Intron NM_144593 NP_653194 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 precursor 43 Effector region (By similarity). positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding lung(1)|breast(1) 2 CTATCTTGCTGTAAGCTGAAA 0.393 21 119 --- --- --- --- PASS HOXC12 3228 broad.mit.edu 37 12 54348956 54348956 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:54348956C>T uc010soq.1 + 1 243 c.243C>T c.(241-243)CGC>CGT p.R81R NM_173860 NP_776272 P31275 HXC12_HUMAN homeobox C12 81 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 CCTTCGGCCGCACGTGCGAGC 0.721 3 9 --- --- --- --- PASS HOXC12 3228 broad.mit.edu 37 12 54348957 54348957 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:54348957A>T uc010soq.1 + 1 244 c.244A>T c.(244-246)ACG>TCG p.T82S NM_173860 NP_776272 P31275 HXC12_HUMAN homeobox C12 82 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 CTTCGGCCGCACGTGCGAGCT 0.721 3 9 --- --- --- --- PASS OR6C1 390321 broad.mit.edu 37 12 55715190 55715190 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:55715190C>A uc010spi.1 + 1 807 c.807C>A c.(805-807)AGC>AGA p.S269R NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 TGTCCTTGAGCAAGGGAGTGG 0.423 26 230 --- --- --- --- PASS IKZF4 64375 broad.mit.edu 37 12 56426419 56426419 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:56426419G>C uc001sjb.1 + 7 949 c.790G>C c.(790-792)GAG>CAG p.E264Q IKZF4_uc010sqa.1_Missense_Mutation_p.E217Q|IKZF4_uc001sjc.1_Missense_Mutation_p.E264Q|IKZF4_uc001sjd.1_Missense_Mutation_p.E162Q|IKZF4_uc009zoi.1_Missense_Mutation_p.E219Q|IKZF4_uc001sje.1_Missense_Mutation_p.E223Q NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN zinc finger protein, subfamily 1A, 4 264 C2H2-type 4. negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GAGTACCCTGGAGGAGCACAA 0.547 16 54 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57573625 57573625 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:57573625G>A uc001snd.2 + 30 5493 c.5027G>A c.(5026-5028)AGC>AAC p.S1676N NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1676 Extracellular (Potential).|LDL-receptor class B 14. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTCTGGACAAGCTATGACACC 0.582 39 197 --- --- --- --- PASS IL22 50616 broad.mit.edu 37 12 68646350 68646350 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:68646350C>A uc001sty.1 - 3 383 c.330G>T c.(328-330)AGG>AGT p.R110S IL22_uc010stb.1_Missense_Mutation_p.R110S NM_020525 NP_065386 Q9GZX6 IL22_HUMAN interleukin 22 precursor 110 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding 0 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) AAGGCTGGAACCTATCAGATT 0.527 16 95 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78516094 78516094 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:78516094C>A uc001syp.2 + 16 4297 c.4124C>A c.(4123-4125)TCC>TAC p.S1375Y NAV3_uc001syo.2_Missense_Mutation_p.S1375Y|NAV3_uc010sub.1_Missense_Mutation_p.S875Y|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1375 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGCTCTGAGTCCATTGACCTC 0.572 HNSCC(70;0.22) 22 175 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81777827 81777827 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:81777827G>C uc001szo.1 - 9 1120 c.959C>G c.(958-960)ACC>AGC p.T320S PPFIA2_uc010sue.1_Missense_Mutation_p.T220S|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 246 ovary(3)|lung(2)|pancreas(1) 6 TTGATACTTGGTGTTCATTTC 0.423 9 66 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104106206 104106206 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:104106206G>A uc001tjw.2 + 41 4582 c.4396G>A c.(4396-4398)GGG>AGG p.G1466R STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1466 Extracellular (Potential).|EGF-like 11. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCAAGGAAACGGGACCATCTG 0.512 22 121 --- --- --- --- PASS KIAA1033 23325 broad.mit.edu 37 12 105543402 105543402 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:105543402A>T uc001tld.2 + 25 2611 c.2524A>T c.(2524-2526)ACC>TCC p.T842S KIAA1033_uc010swr.1_Missense_Mutation_p.T843S|KIAA1033_uc010sws.1_Missense_Mutation_p.T654S NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 842 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 GGTTAATTTCACCTACCAGTT 0.189 8 84 --- --- --- --- PASS ALDH2 217 broad.mit.edu 37 12 112229892 112229892 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:112229892G>A uc001tst.2 + 8 1264 c.823G>A c.(823-825)GGG>AGG p.G275R ALDH2_uc010syi.1_Missense_Mutation_p.G228R|ALDH2_uc009zvy.2_Missense_Mutation_p.G199R NM_000690 NP_000681 P05091 ALDH2_HUMAN mitochondrial aldehyde dehydrogenase 2 275 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity skin(2)|ovary(1)|central_nervous_system(1) 4 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) GGTTGCTGCTGGGAGCAGCAA 0.542 T HMGA2 leiomyoma 12 77 --- --- --- --- PASS TMEM120B 144404 broad.mit.edu 37 12 122181597 122181597 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:122181597C>T uc001ubc.3 + 2 276 c.132C>T c.(130-132)AGC>AGT p.S44S TMEM120B_uc009zxh.2_Silent_p.S44S NM_001080825 NP_001074294 A0PK00 T120B_HUMAN transmembrane protein 120B 44 Potential. integral to membrane 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) CGCTGTGTAGCAGTTCCATCA 0.552 14 103 --- --- --- --- PASS GPR109B 8843 broad.mit.edu 37 12 123200969 123200969 + Missense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:123200969T>A uc001ucy.3 - 1 471 c.316A>T c.(316-318)ATG>TTG p.M106L GPR81_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN G protein-coupled receptor 109B 106 Helical; Name=3; (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) ATGGCAAACATGAAGAGCACC 0.552 5 41 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130840128 130840128 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:130840128C>A uc001uik.2 + 12 1410 c.1320C>A c.(1318-1320)GAC>GAA p.D440E PIWIL1_uc001uij.1_Missense_Mutation_p.D440E NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 440 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) AGCTTCGAGACTGGGGTTTGA 0.378 35 287 --- --- --- --- PASS STX2 2054 broad.mit.edu 37 12 131311740 131311740 + Nonsense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr12:131311740G>A uc001uio.2 - 2 270 c.103C>T c.(103-105)CAG>TAG p.Q35* STX2_uc001uip.2_Nonsense_Mutation_p.Q35*|STX2_uc010tbj.1_Nonsense_Mutation_p.Q35* NM_194356 NP_919337 P32856 STX2_HUMAN syntaxin 2 isoform 2 35 Potential.|Cytoplasmic (Potential). acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) GCTCTTACCTGATGGAAGAAA 0.274 10 124 --- --- --- --- PASS ELF1 1997 broad.mit.edu 37 13 41524010 41524010 + Missense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr13:41524010T>A uc001uxs.2 - 5 834 c.461A>T c.(460-462)CAG>CTG p.Q154L ELF1_uc010tfc.1_Missense_Mutation_p.Q130L|ELF1_uc010acd.2_Missense_Mutation_p.Q47L NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 154 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) TTGCACCTGCTGTGTTTCCAT 0.448 38 212 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84454819 84454819 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr13:84454819G>C uc001vlk.2 - 1 1710 c.824C>G c.(823-825)CCT>CGT p.P275R NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 275 Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TTCTTGGGCAGGGGGCGCCGG 0.552 18 73 --- --- --- --- PASS OR4K14 122740 broad.mit.edu 37 14 20482746 20482746 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr14:20482746C>A uc010tky.1 - 1 607 c.607G>T c.(607-609)GAC>TAC p.D203Y NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) AACCCACTGTCTGAGATCATA 0.512 9 54 --- --- --- --- PASS OR10G3 26533 broad.mit.edu 37 14 22038006 22038006 + Silent SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr14:22038006A>G uc010tmb.1 - 1 870 c.870T>C c.(868-870)ACT>ACC p.T290T NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) GGTTCCGCAGAGTGTAGATAA 0.552 23 108 --- --- --- --- PASS ACIN1 22985 broad.mit.edu 37 14 23562722 23562722 + Nonsense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr14:23562722G>C uc001wit.3 - 2 672 c.344C>G c.(343-345)TCA>TGA p.S115* ACIN1_uc010akg.2_Nonsense_Mutation_p.S115*|ACIN1_uc010tnj.1_Nonsense_Mutation_p.S115*|C14orf119_uc001wiu.2_5'Flank NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 115 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ATGGGGTGTTGAGTGTTTCTG 0.438 16 125 --- --- --- --- PASS ZFP36L1 677 broad.mit.edu 37 14 69256636 69256636 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr14:69256636C>A uc001xkh.1 - 2 761 c.631G>T c.(631-633)GCT>TCT p.A211S ZFP36L1_uc001xki.1_Missense_Mutation_p.A211S NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 211 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) gcggtggcagcggcACTGGGA 0.587 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 102 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86088661 86088661 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr14:86088661C>T uc001xvr.2 + 2 1570 c.803C>T c.(802-804)CCT>CTT p.P268L FLRT2_uc010atd.2_Missense_Mutation_p.P268L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 268 Extracellular (Potential).|LRR 9. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) AACCACATTCCTTTGACAGCC 0.473 68 256 --- --- --- --- PASS CCDC88C 440193 broad.mit.edu 37 14 91792395 91792395 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr14:91792395C>T uc010aty.2 - 11 1155 c.1056G>A c.(1054-1056)CTG>CTA p.L352L NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 352 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) TATCTTCTCTCAGCTCCTGGT 0.458 6 20 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94088420 94088420 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr14:94088420C>T uc001ybv.1 + 28 4459 c.4376C>T c.(4375-4377)TCA>TTA p.S1459L KIAA1409_uc001ybs.1_Missense_Mutation_p.S1437L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1614 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) TCCTCAGATTCAACCTCGGGG 0.463 27 120 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28419668 28419668 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:28419668C>G uc001zbj.2 - 65 10036 c.9930G>C c.(9928-9930)AAG>AAC p.K3310N NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3310 RCC1 12. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CGCGTGTGATCTTCTGGCCTT 0.602 12 68 --- --- --- --- PASS DLL4 54567 broad.mit.edu 37 15 41228522 41228522 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:41228522G>T uc001zng.1 + 9 1657 c.1337G>T c.(1336-1338)CGT>CTT p.R446L NM_019074 NP_061947 Q9NR61 DLL4_HUMAN delta-like 4 protein precursor 446 EGF-like 7.|Extracellular (Potential). blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(2) 2 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GACTGTGCCCGTAACCCTTGC 0.642 5 17 --- --- --- --- PASS CATSPER2 117155 broad.mit.edu 37 15 43922915 43922915 + Missense_Mutation SNP T G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:43922915T>G uc001zsh.2 - 13 1792 c.1577A>C c.(1576-1578)AAC>ACC p.N526T STRC_uc010udz.1_Intron|CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.N524T|CATSPER2_uc001zsj.2_Missense_Mutation_p.N524T NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 526 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GTCTTCCAAGTTCATCAGTGC 0.383 13 64 --- --- --- --- PASS MAPK6 5597 broad.mit.edu 37 15 52356574 52356574 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:52356574G>A uc002abp.2 + 6 2337 c.1543G>A c.(1543-1545)GCT>ACT p.A515T NM_002748 NP_002739 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 515 cell cycle ATP binding|MAP kinase activity lung(3)|ovary(1) 4 all cancers(107;0.0028) ACAGCAACTGGCTGGAAAAGA 0.393 3 39 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54305124 54305124 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:54305124C>A uc002ack.2 + 1 24 c.24C>A c.(22-24)AGC>AGA p.S8R NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 8 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTTTCAAGAGCTTGATTTTAC 0.358 10 56 --- --- --- --- PASS ALDH1A2 8854 broad.mit.edu 37 15 58302913 58302913 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:58302913C>T uc002aex.2 - 4 485 c.427G>A c.(427-429)GTC>ATC p.V143I ALDH1A2_uc002aey.2_Missense_Mutation_p.V143I|ALDH1A2_uc010ugv.1_Missense_Mutation_p.V122I|ALDH1A2_uc010ugw.1_Missense_Mutation_p.V114I|ALDH1A2_uc002aew.2_Missense_Mutation_p.V47I NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 143 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GTTTTGATGACGCCCTGCAAA 0.433 23 88 --- --- --- --- PASS MYO1E 4643 broad.mit.edu 37 15 59516905 59516905 + Nonsense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:59516905C>A uc002aga.2 - 8 1132 c.760G>T c.(760-762)GAG>TAG p.E254* NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 254 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) TCCTGAAACTCCCGCCTGTCG 0.522 13 48 --- --- --- --- PASS SPESP1 246777 broad.mit.edu 37 15 69238497 69238497 + Silent SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:69238497A>T uc002arn.1 + 2 752 c.624A>T c.(622-624)ATA>ATT p.I208I NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 precursor 208 multicellular organismal development acrosomal vesicle 0 AAACTGCGATAGAAAAACCCG 0.403 44 167 --- --- --- --- PASS HCN4 10021 broad.mit.edu 37 15 73616009 73616009 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:73616009G>C uc002avp.2 - 8 3419 c.2425C>G c.(2425-2427)CCC>GCC p.P809A NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 809 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) GATCCTGGGGGAGGGCGGAAG 0.692 10 24 --- --- --- --- PASS CSPG4 1464 broad.mit.edu 37 15 75982045 75982045 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:75982045G>C uc002baw.2 - 3 1454 c.1361C>G c.(1360-1362)CCC>CGC p.P454R NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 454 Extracellular (Potential).|CSPG 1.|Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 GTCCAGCGTGGGCTGCACATG 0.642 12 95 --- --- --- --- PASS IQGAP1 8826 broad.mit.edu 37 15 91027569 91027569 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr15:91027569C>T uc002bpl.1 + 30 4007 c.3906C>T c.(3904-3906)ATC>ATT p.I1302I NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1302 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TTGGTGAAATCATCAACACCC 0.373 22 143 --- --- --- --- PASS CLUAP1 23059 broad.mit.edu 37 16 3576429 3576429 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:3576429C>T uc002cvk.1 + 9 978 c.873C>T c.(871-873)CTC>CTT p.L291L CLUAP1_uc002cvj.1_Silent_p.L291L|CLUAP1_uc002cvl.1_Silent_p.L291L|CLUAP1_uc002cvm.1_Silent_p.L125L NM_015041 NP_055856 Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 isoform 1 291 Potential. nucleus protein binding ovary(1)|breast(1)|pancreas(1) 3 AAAACACTCTCTGCCTGATAC 0.478 4 29 --- --- --- --- PASS CLEC16A 23274 broad.mit.edu 37 16 11272305 11272305 + Missense_Mutation SNP G T T rs74163628 TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:11272305G>T uc002dao.2 + 24 3150 c.2920G>T c.(2920-2922)GTG>TTG p.V974L CLEC16A_uc002dap.2_Missense_Mutation_p.V61L NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 974 ovary(1)|central_nervous_system(1) 2 GAGCGCAGCCGTGGAGACAGC 0.617 9 39 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15797886 15797886 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:15797886G>C uc002ddy.2 - 41 5988 c.5881C>G c.(5881-5883)CGA>GGA p.R1961G MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Missense_Mutation_p.R1968G|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1961 Carboxyl-terminal. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TCTGCGTCTCGAGTGTCCGTT 0.448 T CBFB AML 51 177 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30736362 30736362 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:30736362C>G uc002dze.1 + 25 6002 c.5617C>G c.(5617-5619)CGA>GGA p.R1873G SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R1668G|SRCAP_uc010bzz.1_Missense_Mutation_p.R1443G NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1873 Pro-rich. 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) CCCCCGGCCTCGACGCCAGCC 0.582 20 118 --- --- --- --- PASS TGFB1I1 7041 broad.mit.edu 37 16 31485212 31485212 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:31485212C>T uc002ecd.1 + 4 265 c.239C>T c.(238-240)TCC>TTC p.S80F TGFB1I1_uc002ece.1_Missense_Mutation_p.S63F|TGFB1I1_uc010caq.1_5'UTR NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 80 Transcription activation (By similarity).|Interaction with PTK2B. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 CCTCCATTCTCCTCTTCCAGC 0.597 9 144 --- --- --- --- PASS C16orf78 123970 broad.mit.edu 37 16 49433113 49433113 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:49433113A>T uc002efr.2 + 5 765 c.722A>T c.(721-723)GAT>GTT p.D241V NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN hypothetical protein LOC123970 241 central_nervous_system(1) 1 ATGAATGTGGATATCCACCCC 0.488 23 105 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50745449 50745449 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:50745449C>T uc002egm.1 + 4 1732 c.1627C>T c.(1627-1629)CGC>TGC p.R543C NOD2_uc010cbk.1_Missense_Mutation_p.R516C|NOD2_uc002egl.1_Missense_Mutation_p.R321C|NOD2_uc010cbl.1_Missense_Mutation_p.R321C|NOD2_uc010cbm.1_Missense_Mutation_p.R321C|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 543 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) TCTTCGGGGCCGCCTCCCCAC 0.617 4 85 --- --- --- --- PASS CMTM3 123920 broad.mit.edu 37 16 66642254 66642254 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:66642254G>A uc002epu.2 + 3 449 c.190G>A c.(190-192)GCA>ACA p.A64T CMTM3_uc002epv.2_Missense_Mutation_p.A64T|CMTM3_uc002epw.2_Missense_Mutation_p.A64T|CMTM3_uc002epx.2_Missense_Mutation_p.A64T|CMTM3_uc002epy.2_RNA NM_001048251 NP_001041716 Q96MX0 CKLF3_HUMAN chemokine-like factor superfamily 3 64 MARVEL.|Helical; (Potential). chemotaxis extracellular space|integral to membrane cytokine activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164) GGCGTCCTCAGCATCTGCCTT 0.527 OREG0023859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 166 --- --- --- --- PASS CDH16 1014 broad.mit.edu 37 16 66944338 66944338 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:66944338G>T uc002eql.2 - 15 2065 c.1992C>A c.(1990-1992)GCC>GCA p.A664A CDH16_uc010cdy.2_Silent_p.A642A|CDH16_uc002eqm.2_Silent_p.A567A NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 664 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CAAGAGTCAGGGCTGGGGCAG 0.632 31 93 --- --- --- --- PASS ZDHHC1 29800 broad.mit.edu 37 16 67432782 67432782 + Missense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:67432782T>A uc010vjm.1 - 6 900 c.596A>T c.(595-597)TAT>TTT p.Y199F NM_013304 NP_037436 Q8WTX9 ZDHC1_HUMAN zinc finger, DHHC-type containing 1 199 Helical; (Potential). integral to membrane DNA binding|zinc ion binding 0 Ovarian(137;0.223) UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022) CACGAAGACATATGTGGCCAC 0.592 9 23 --- --- --- --- PASS ADAT1 23536 broad.mit.edu 37 16 75646552 75646552 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:75646552C>A uc002feo.1 - 7 734 c.632G>T c.(631-633)GGA>GTA p.G211V ADAT1_uc002fep.1_Missense_Mutation_p.G62V NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 211 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity ovary(1)|skin(1) 2 GTGAGCTGCTCCGTTGGTGAC 0.522 28 154 --- --- --- --- PASS WWOX 51741 broad.mit.edu 37 16 79245607 79245607 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:79245607G>A uc002ffk.2 + 9 1284 c.1159G>A c.(1159-1161)GAA>AAA p.E387K WWOX_uc010vnk.1_Missense_Mutation_p.E274K|WWOX_uc002ffl.2_Missense_Mutation_p.E207K|WWOX_uc010che.2_Missense_Mutation_p.R171K NM_016373 NP_057457 Q9NZC7 WWOX_HUMAN WW domain-containing oxidoreductase isoform 1 387 Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity 0 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) GCCCTCACCAGAAGCTCAGAG 0.622 23 82 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81190635 81190635 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr16:81190635G>A uc002fgh.1 - 24 3954 c.3954C>T c.(3952-3954)TTC>TTT p.F1318F PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1318 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 ACGTGCTTCCGAAGAAAGTGA 0.577 5 14 --- --- --- --- PASS OR3A4 390756 broad.mit.edu 37 17 3214573 3214573 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:3214573C>T uc002fvi.2 + 1 1035 c.969C>T c.(967-969)TGC>TGT p.C323C NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 GTTCCCTATGCTGCCTGCAGT 0.572 26 94 --- --- --- --- PASS DVL2 1856 broad.mit.edu 37 17 7130726 7130726 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:7130726G>A uc002gez.1 - 12 1642 c.1360C>T c.(1360-1362)CTG>TTG p.L454L DVL2_uc010vtr.1_Silent_p.L448L NM_004422 NP_004413 O14641 DVL2_HUMAN dishevelled 2 454 DEP. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity lung(1)|kidney(1) 2 GCCATACCCAGAAAGGCATTA 0.597 17 69 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T C C rs121912666 TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:7578190T>C uc002gim.2 - 6 853 c.659A>G c.(658-660)TAT>TGT p.Y220C TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 220 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and 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.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557 111 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) 11 36 --- --- --- --- PASS C17orf59 54785 broad.mit.edu 37 17 8093017 8093017 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:8093017C>T uc010vut.1 - 1 548 c.442G>A c.(442-444)GAG>AAG p.E148K NM_017622 NP_060092 Q96GS4 CQ059_HUMAN hypothetical protein LOC54785 148 0 GCGGCCGCCTCCTCGTCGTTG 0.731 3 27 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10354133 10354133 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:10354133C>G uc002gmn.2 - 29 4056 c.3945G>C c.(3943-3945)CAG>CAC p.Q1315H uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1315 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 ATTCTTCAATCTGTTGTGTAA 0.403 30 167 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10404771 10404771 + Missense_Mutation SNP A C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:10404771A>C uc002gmo.2 - 27 3488 c.3394T>G c.(3394-3396)TCC>GCC p.S1132A uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1132 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TTGGCCCGGGAGGCCCGCTCT 0.567 13 100 --- --- --- --- PASS KIAA0100 9703 broad.mit.edu 37 17 26967595 26967595 + Silent SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:26967595G>C uc002hbu.2 - 8 972 c.873C>G c.(871-873)TCC>TCG p.S291S KIAA0100_uc002hbv.2_Silent_p.S291S|KIAA0100_uc010crr.1_Silent_p.S148S NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 291 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GACTATTCATGGACAATACCA 0.478 20 104 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29509539 29509539 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:29509539G>C uc002hgg.2 + 8 1077 c.744G>C c.(742-744)AAG>AAC p.K248N NF1_uc002hge.1_Missense_Mutation_p.K248N|NF1_uc002hgf.1_Missense_Mutation_p.K248N|NF1_uc002hgh.2_Missense_Mutation_p.K248N|NF1_uc010csn.1_Missense_Mutation_p.K108N NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 248 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) GTGCAGAAAAGCTATTTGACT 0.358 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) 4 69 --- --- --- --- PASS RHOT1 55288 broad.mit.edu 37 17 30533963 30533963 + Missense_Mutation SNP A C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:30533963A>C uc002hgz.2 + 17 1690 c.1451A>C c.(1450-1452)GAA>GCA p.E484A RHOT1_uc002hgw.2_Missense_Mutation_p.E484A|RHOT1_uc002hgy.2_Missense_Mutation_p.E484A|RHOT1_uc002hha.2_Missense_Mutation_p.E357A|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.E357A|RHOT1_uc010wby.1_Missense_Mutation_p.E484A|RHOT1_uc002hhb.2_Missense_Mutation_p.E463A|RHOT1_uc002hgv.2_Missense_Mutation_p.E484A NM_018307 NP_060777 Q8IXI2 MIRO1_HUMAN ras homolog gene family, member T1 isoform 3 484 Miro 2.|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) TTTCTAACTGAAGCTGAAATC 0.318 26 112 --- --- --- --- PASS KRT9 3857 broad.mit.edu 37 17 39726126 39726126 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:39726126C>G uc002hxe.3 - 3 933 c.867G>C c.(865-867)AAG>AAC p.K289N JUP_uc010wfs.1_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN keratin 9 289 Rod.|Coil 1B. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|pancreas(1) 3 Breast(137;0.000307) TATGATTCTTCTTGAGGGCCA 0.537 49 212 --- --- --- --- PASS G6PC 2538 broad.mit.edu 37 17 41052951 41052951 + Nonsense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:41052951C>T uc002icb.1 + 1 137 c.58C>T c.(58-60)CAG>TAG p.Q20* LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Nonsense_Mutation_p.Q22* NM_000151 NP_000142 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 20 Lumenal (Potential). Q -> R (in GSD1A). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) ACATTACCTCCAGGTGAATTA 0.502 Glycogen_Storage_Disease_type_Ia 23 109 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901872 51901872 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:51901872C>T uc002iua.2 + 1 1634 c.1478C>T c.(1477-1479)CCA>CTA p.P493L uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 493 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CCTCACACCCCATTCAGAGCC 0.527 12 58 --- --- --- --- PASS TTYH2 94015 broad.mit.edu 37 17 72245212 72245212 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr17:72245212C>T uc002jkc.2 + 7 898 c.867C>T c.(865-867)ATC>ATT p.I289I TTYH2_uc010wqw.1_Silent_p.I268I|TTYH2_uc002jkd.2_5'UTR NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 289 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 AGGGCCAGATCAGCACAGGTA 0.572 16 53 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5423483 5423483 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr18:5423483C>A uc002kmt.1 - 11 1319 c.1233G>T c.(1231-1233)AGG>AGT p.R411S EPB41L3_uc010wzh.1_Missense_Mutation_p.R411S|EPB41L3_uc002kmu.1_Missense_Mutation_p.R411S|EPB41L3_uc010dkq.1_Missense_Mutation_p.R302S|EPB41L3_uc010dkr.2_5'UTR NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 411 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GCGCTTGTGTCCTGCCACTAT 0.458 8 60 --- --- --- --- PASS ANKRD12 23253 broad.mit.edu 37 18 9254883 9254883 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr18:9254883A>T uc002knv.2 + 9 1875 c.1618A>T c.(1618-1620)ACT>TCT p.T540S ANKRD12_uc002knw.2_Missense_Mutation_p.T517S|ANKRD12_uc002knx.2_Missense_Mutation_p.T517S|ANKRD12_uc010dkx.1_Missense_Mutation_p.T247S NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 540 nucleus ovary(2)|central_nervous_system(1) 3 TCATATTTCCACTGGTAAATC 0.348 7 84 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13113642 13113642 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr18:13113642G>C uc010xac.1 + 41 7185 c.7105G>C c.(7105-7107)GAA>CAA p.E2369Q CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.E1894Q|CEP192_uc002kru.2_Intron|CEP192_uc002krv.2_Missense_Mutation_p.E791Q|CEP192_uc002krw.2_Missense_Mutation_p.E518Q|CEP192_uc002krx.2_Missense_Mutation_p.E373Q|CEP192_uc002kry.2_Intron NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 2369 ovary(4)|pancreas(1) 5 TTGGGATGTTGAATGTCACCC 0.398 26 148 --- --- --- --- PASS FAM59A 64762 broad.mit.edu 37 18 29867683 29867683 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr18:29867683G>A uc002kxl.2 - 4 933 c.877C>T c.(877-879)CTC>TTC p.L293F FAM59A_uc002kxk.1_Missense_Mutation_p.L293F NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 293 CABIT. ovary(1)|skin(1) 2 TGCATGGGGAGGATCTTGTTG 0.547 25 109 --- --- --- --- PASS PIK3C3 5289 broad.mit.edu 37 18 39637940 39637940 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr18:39637940G>T uc002lap.2 + 22 2415 c.2357G>T c.(2356-2358)GGA>GTA p.G786V PIK3C3_uc010xcl.1_Missense_Mutation_p.G723V|PIK3C3_uc002laq.2_Missense_Mutation_p.G271V NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 786 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 ATGGTAGAAGGAATGGGGGGC 0.473 TSP Lung(28;0.18) 13 72 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54423947 54423947 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr18:54423947C>T uc002lgk.1 + 15 2334 c.2123C>T c.(2122-2124)TCT>TTT p.S708F WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S708F NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 708 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GAAGAAGCCTCTAGGCCGAAT 0.428 18 140 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56247398 56247398 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr18:56247398C>T uc002lhj.3 - 4 824 c.610G>A c.(610-612)GAT>AAT p.D204N NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 204 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TTACTTGGATCATAAGCCTCT 0.398 13 347 --- --- --- --- PASS PTPRS 5802 broad.mit.edu 37 19 5243974 5243974 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:5243974G>A uc002mbv.2 - 11 1742 c.1508C>T c.(1507-1509)GCC>GTC p.A503V PTPRS_uc002mbu.1_Missense_Mutation_p.A490V|PTPRS_uc010xin.1_Missense_Mutation_p.A490V|PTPRS_uc002mbw.2_Missense_Mutation_p.A490V|PTPRS_uc002mbx.2_Missense_Mutation_p.A494V|PTPRS_uc002mby.2_Missense_Mutation_p.A490V NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 503 Extracellular (Potential).|Fibronectin type-III 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGAGGTGAAGGCGAGCACCCG 0.706 8 21 --- --- --- --- PASS DUS3L 56931 broad.mit.edu 37 19 5785396 5785396 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:5785396G>C uc002mdc.2 - 12 1975 c.1878C>G c.(1876-1878)ATC>ATG p.I626M PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.I384M|DUS3L_uc010duk.2_Missense_Mutation_p.I291M NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 626 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 CCAGGCACCTGATGCGGATCC 0.672 4 10 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9006672 9006672 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:9006672G>C uc002mkp.2 - 44 39780 c.39576C>G c.(39574-39576)TTC>TTG p.F13192L MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.F9L|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13194 SEA 8.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCGTGATGTTGAACTTCCTGG 0.532 35 175 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9033667 9033667 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:9033667G>A uc002mkp.2 - 9 36474 c.36270C>T c.(36268-36270)GAC>GAT p.D12090D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12092 SEA 1.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTGCCGCATGTCCTCCTCGT 0.587 14 63 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9083649 9083649 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:9083649G>T uc002mkp.2 - 1 8370 c.8166C>A c.(8164-8166)CTC>CTA p.L2722L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2722 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAGAAGGATGGAGTGGACTTT 0.468 20 121 --- --- --- --- PASS ZNF443 10224 broad.mit.edu 37 19 12541212 12541212 + Nonsense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:12541212G>A uc002mtu.2 - 4 1972 c.1774C>T c.(1774-1776)CAA>TAA p.Q592* NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 592 C2H2-type 17. induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 TTACCACATTGTGGACATTCA 0.408 39 175 --- --- --- --- PASS OR7A10 390892 broad.mit.edu 37 19 14952021 14952021 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:14952021G>A uc002mzx.1 - 1 669 c.669C>T c.(667-669)TCC>TCT p.S223S NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) CACGTATGGAGGAAACTATCT 0.458 9 81 --- --- --- --- PASS ZNF585A 199704 broad.mit.edu 37 19 37644315 37644315 + Missense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:37644315T>A uc002ofo.1 - 5 717 c.486A>T c.(484-486)GAA>GAT p.E162D ZNF585A_uc002ofm.1_Missense_Mutation_p.E107D|ZNF585A_uc002ofn.1_Missense_Mutation_p.E107D NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 162 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCTTCCCACATTCAATGCATA 0.373 34 249 --- --- --- --- PASS ZNF383 163087 broad.mit.edu 37 19 37733871 37733871 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:37733871C>G uc002oft.1 + 8 1313 c.733C>G c.(733-735)CAG>GAG p.Q245E ZNF383_uc002ofs.1_Missense_Mutation_p.Q180E|ZNF383_uc002ofu.1_Missense_Mutation_p.Q245E NM_152604 NP_689817 Q8NA42 ZN383_HUMAN zinc finger protein 383 245 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCTCAACATCAGAGAATCCA 0.408 27 101 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38985056 38985056 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:38985056C>A uc002oit.2 + 39 6469 c.6339C>A c.(6337-6339)AGC>AGA p.S2113R RYR1_uc002oiu.2_Missense_Mutation_p.S2113R|RYR1_uc002oiv.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2113 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCGTGCAGAGCCCCGAGCTGG 0.662 13 56 --- --- --- --- PASS NFKBIB 4793 broad.mit.edu 37 19 39398189 39398189 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:39398189C>G uc002ojw.2 + 5 917 c.859C>G c.(859-861)CCC>GCC p.P287A NFKBIB_uc002ojx.2_Missense_Mutation_p.P255A|NFKBIB_uc002ojy.2_Missense_Mutation_p.P287A NM_002503 NP_002494 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene 287 ANK 6. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity lung(1)|kidney(1) 2 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CCGGCCCAACCCCATCCTCGC 0.701 12 48 --- --- --- --- PASS QPCTL 54814 broad.mit.edu 37 19 46205165 46205165 + Silent SNP C G G rs140632651 TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:46205165C>G uc010xxr.1 + 6 1217 c.996C>G c.(994-996)CTC>CTG p.L332L QPCTL_uc010ekn.2_Silent_p.L238L NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like isoform 332 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) TCCCCTTCCTCCGCAGAGGTA 0.597 10 64 --- --- --- --- PASS QPCTL 54814 broad.mit.edu 37 19 46206205 46206205 + Silent SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:46206205C>G uc010xxr.1 + 7 1268 c.1047C>G c.(1045-1047)GTC>GTG p.V349V QPCTL_uc010ekn.2_Silent_p.V255V NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like isoform 349 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) TCCCTGCTGTCTGGCACACCC 0.602 39 200 --- --- --- --- PASS IRF2BP1 26145 broad.mit.edu 37 19 46388288 46388288 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:46388288C>A uc002pds.1 - 1 1089 c.745G>T c.(745-747)GAT>TAT p.D249Y NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) AGCCCGTGATCCTTCTTGAAG 0.632 23 93 --- --- --- --- PASS PRR12 57479 broad.mit.edu 37 19 50097967 50097967 + Silent SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:50097967A>T uc002poo.3 + 4 375 c.375A>T c.(373-375)CCA>CCT p.P125P NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 539 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TGCACACGCCAGGCCCCACGG 0.652 7 21 --- --- --- --- PASS KCNC3 3748 broad.mit.edu 37 19 50827098 50827098 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:50827098G>C uc002pru.1 - 2 1407 c.1112C>G c.(1111-1113)CCA>CGA p.P371R KCNC3_uc002prt.1_Missense_Mutation_p.P7R NM_004977 NP_004968 Q14003 KCNC3_HUMAN Shaw-related voltage-gated potassium channel 371 Cytoplasmic (Potential). cell death voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) CACCTTGTCTGGGCAGAAGGT 0.582 13 77 --- --- --- --- PASS ZNF649 65251 broad.mit.edu 37 19 52395145 52395145 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:52395145C>G uc002pxy.2 - 5 512 c.244G>C c.(244-246)GAG>CAG p.E82Q ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TCAGCTTTCTCAATTTCTAAG 0.413 17 112 --- --- --- --- PASS ZNF616 90317 broad.mit.edu 37 19 52627196 52627196 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:52627196T>C uc002pym.2 - 3 402 c.119A>G c.(118-120)TAT>TGT p.Y40C ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) CAGGTTCCTATAGTTCTCCAA 0.433 24 127 --- --- --- --- PASS ZNF600 162966 broad.mit.edu 37 19 53269954 53269954 + Missense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:53269954T>A uc002qab.3 - 3 1341 c.1055A>T c.(1054-1056)CAC>CTC p.H352L NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 352 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) CTCTCCAGTGTGAATTCTTTT 0.398 34 200 --- --- --- --- PASS ZNF665 79788 broad.mit.edu 37 19 53669219 53669219 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:53669219C>T uc010eqm.1 - 4 624 c.524G>A c.(523-525)GGA>GAA p.G175E NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) ATAATGTTTTCCTCGATTATT 0.383 42 242 --- --- --- --- PASS LILRB2 10288 broad.mit.edu 37 19 54782843 54782843 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:54782843C>T uc002qfb.2 - 6 1045 c.779G>A c.(778-780)GGG>GAG p.G260E LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.G260E|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.G260E|LILRB2_uc010yet.1_Missense_Mutation_p.G144E|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 260 Extracellular (Potential).|Ig-like C2-type 3. 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) GTCACGTTCCCCCTCCTTGTA 0.652 24 94 --- --- --- --- PASS KIR2DL3 3804 broad.mit.edu 37 19 55253692 55253692 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:55253692G>A uc002qgv.2 + 3 355 c.337G>A c.(337-339)GCT>ACT p.A113T KIR2DL3_uc002qgx.2_Missense_Mutation_p.A113T|KIR2DL3_uc002qgy.2_Missense_Mutation_p.A113T|KIR2DL3_uc010erw.1_Missense_Mutation_p.A113T|KIR2DL1_uc002qgz.1_Missense_Mutation_p.A23T|KIR2DL3_uc002qha.1_RNA NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 113 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) TCAGTTGTCAGCTCCCAGTGA 0.532 39 377 --- --- --- --- PASS NLRP9 338321 broad.mit.edu 37 19 56223865 56223865 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:56223865G>C uc002qly.2 - 7 2621 c.2593C>G c.(2593-2595)CAT>GAT p.H865D NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 865 LRR 5. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ATTTCATTATGCCCAAGTTTC 0.458 11 94 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56487670 56487670 + Splice_Site SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:56487670G>C uc002qmh.2 + 8 2947 c.2876_splice c.e8+1 p.E959_splice NLRP8_uc010etg.2_Splice_Site_p.E940_splice NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGATCCTGGAGTAAGTGGCCC 0.453 14 81 --- --- --- --- PASS ZNF471 57573 broad.mit.edu 37 19 57036767 57036767 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr19:57036767C>T uc002qnh.2 + 5 1464 c.1331C>T c.(1330-1332)GCA>GTA p.A444V NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 444 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AGCCATCATGCATCACTCACT 0.418 8 160 --- --- --- --- PASS NOP56 10528 broad.mit.edu 37 20 2638797 2638797 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr20:2638797G>C uc002wgh.2 + 12 1695 c.1642G>C c.(1642-1644)GAG>CAG p.E548Q NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.E382Q|NOP56_uc002wgm.1_3'UTR NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 548 Lys-rich. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 TAATGACCCTGAGGAGGCAGG 0.537 9 22 --- --- --- --- PASS SLC4A11 83959 broad.mit.edu 37 20 3218260 3218260 + Silent SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr20:3218260A>G uc002wig.2 - 1 114 c.66T>C c.(64-66)GCT>GCC p.A22A SLC4A11_uc010zqe.1_Intron|SLC4A11_uc002wih.2_Intron|SLC4A11_uc010zqf.1_Intron NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 22 Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 AAAGGTCACCAGCCCCATGGA 0.592 37 177 --- --- --- --- PASS JAG1 182 broad.mit.edu 37 20 10639146 10639146 + Nonsense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr20:10639146C>A uc002wnw.2 - 4 1180 c.664G>T c.(664-666)GAA>TAA p.E222* NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 222 Extracellular (Potential).|DSL. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 ATCCAGCCTTCCATGCAAGTT 0.498 Alagille_Syndrome 48 184 --- --- --- --- PASS C20orf12 55184 broad.mit.edu 37 20 18379240 18379240 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr20:18379240G>C uc010zsa.1 - 14 1729 c.1520C>G c.(1519-1521)TCT>TGT p.S507C C20orf12_uc010zrz.1_Missense_Mutation_p.S26C|C20orf12_uc002wqp.3_Missense_Mutation_p.S198C|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.S374C|C20orf12_uc002wqq.3_Missense_Mutation_p.S488C NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 315 intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) GAGGTGAGCAGAGATGTGATC 0.433 46 185 --- --- --- --- PASS BPIL3 128859 broad.mit.edu 37 20 31622639 31622639 + Nonsense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr20:31622639G>T uc010zuc.1 + 4 373 c.373G>T c.(373-375)GAG>TAG p.E125* BPIL3_uc010zud.1_Nonsense_Mutation_p.E64* NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 125 extracellular region lipid binding ovary(1)|pancreas(1) 2 TCTGCGGGATGAGGAGACAGG 0.592 20 114 --- --- --- --- PASS PLUNC 51297 broad.mit.edu 37 20 31825567 31825567 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr20:31825567C>A uc002wyv.2 + 2 120 c.50C>A c.(49-51)ACC>AAC p.T17N PLUNC_uc002wyt.3_Missense_Mutation_p.T17N|PLUNC_uc002wyu.3_Missense_Mutation_p.T17N NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 17 innate immune response extracellular region lipid binding 0 TTAGCCCAGACCATGGCCCAG 0.562 14 107 --- --- --- --- PASS LBP 3929 broad.mit.edu 37 20 36975032 36975032 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr20:36975032G>C uc002xic.1 + 1 148 c.113G>C c.(112-114)GGA>GCA p.G38A NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 38 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) ACCGACAAGGGACTGCAGTAT 0.622 8 60 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40730766 40730766 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr20:40730766C>G uc002xkg.2 - 26 3896 c.3712G>C c.(3712-3714)GAT>CAT p.D1238H PTPRT_uc010ggj.2_Missense_Mutation_p.D1257H|PTPRT_uc010ggi.2_Missense_Mutation_p.D441H NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1238 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CGGCTTACATCCATCAGTGCT 0.557 11 88 --- --- --- --- PASS C20orf85 128602 broad.mit.edu 37 20 56735872 56735872 + Silent SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr20:56735872G>C uc002xyv.2 + 4 446 c.408G>C c.(406-408)GTG>GTC p.V136V NM_178456 NP_848551 Q9H1P6 CT085_HUMAN hypothetical protein LOC128602 136 ovary(1) 1 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) AGCAGGGCGTGCACTGAATCC 0.607 8 45 --- --- --- --- PASS C20orf200 253868 broad.mit.edu 37 20 61143530 61143530 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr20:61143530G>T uc002ycz.1 - 3 809 c.318C>A c.(316-318)CCC>CCA p.P106P C20orf200_uc002ycy.2_RNA NM_152757 NP_689970 hypothetical protein LOC253868 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) TGGCCCTGCCGGGGCGTGTGT 0.647 16 46 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22881368 22881368 + Silent SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr21:22881368T>A uc002yld.1 + 16 2523 c.2274T>A c.(2272-2274)GCT>GCA p.A758A NCAM2_uc011acb.1_Silent_p.A616A NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 758 Cytoplasmic (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAGGAAAAGCTGCATACCTGT 0.453 13 87 --- --- --- --- PASS HLCS 3141 broad.mit.edu 37 21 38309503 38309503 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr21:38309503G>C uc010gnb.2 - 4 1443 c.242C>G c.(241-243)TCT>TGT p.S81C HLCS_uc002yvs.2_Missense_Mutation_p.S81C|HLCS_uc010gnc.1_Missense_Mutation_p.S228C NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 81 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CTCACTCCCAGAGGCACTGCC 0.547 10 110 --- --- --- --- PASS RGL4 266747 broad.mit.edu 37 22 24034931 24034931 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:24034931T>C uc002zxn.2 + 3 1619 c.449T>C c.(448-450)CTG>CCG p.L150P LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.L150P|RGL4_uc002zxp.1_Missense_Mutation_p.L14P|RGL4_uc002zxq.2_Missense_Mutation_p.L14P NM_153615 NP_705843 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation 150 Pro-rich. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity ovary(1) 1 CTGGCGGACCTGGGGCCTGCT 0.627 19 95 --- --- --- --- PASS ASPHD2 57168 broad.mit.edu 37 22 26829924 26829924 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:26829924C>T uc003acg.2 + 2 740 c.343C>T c.(343-345)CGC>TGC p.R115C NM_020437 NP_065170 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 115 Lumenal (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity ovary(1) 1 TGAGTGCGTGCGCTGCACCCA 0.642 8 44 --- --- --- --- PASS NEFH 4744 broad.mit.edu 37 22 29884889 29884889 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:29884889C>T uc003afo.2 + 4 1331 c.1260C>T c.(1258-1260)TTC>TTT p.F420F NEFH_uc003afp.2_5'Flank NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 420 Tail. cell death|nervous system development neurofilament 0 CAATTCCTTTCTCGCTTCCAG 0.448 31 134 --- --- --- --- PASS LIMK2 3985 broad.mit.edu 37 22 31661978 31661978 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:31661978G>C uc003akh.2 + 8 1046 c.901G>C c.(901-903)GAG>CAG p.E301Q LIMK2_uc003akg.2_Missense_Mutation_p.E218Q|LIMK2_uc003aki.2_Missense_Mutation_p.E55Q|LIMK2_uc003akj.2_Missense_Mutation_p.E280Q|LIMK2_uc003akk.2_Missense_Mutation_p.E280Q|LIMK2_uc011aln.1_Missense_Mutation_p.E218Q NM_005569 NP_005560 P53671 LIMK2_HUMAN LIM domain kinase 2 isoform 2a 301 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding ovary(2) 2 CTCCCCAAAGGAGCCCCTGCT 0.567 13 95 --- --- --- --- PASS MCM5 4174 broad.mit.edu 37 22 35799254 35799254 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:35799254G>A uc003anu.3 + 3 316 c.222G>A c.(220-222)ATG>ATA p.M74I MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.M74I NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 74 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 AGGTGGAGATGGAGGATCTGG 0.587 9 84 --- --- --- --- PASS ACO2 50 broad.mit.edu 37 22 41918985 41918985 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:41918985C>A uc003bac.2 + 10 1312 c.1290C>A c.(1288-1290)GAC>GAA p.D430E ACO2_uc003bad.2_Missense_Mutation_p.D455E NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 430 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 TTGAGCGGGACGGCTATGTGA 0.642 3 120 --- --- --- --- PASS CYP2D6 1565 broad.mit.edu 37 22 42522959 42522959 + Silent SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:42522959C>T uc003bce.2 - 8 1299 c.1209G>A c.(1207-1209)CTG>CTA p.L403L uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Silent_p.L97L|CYP2D6_uc003bcf.2_Silent_p.L352L NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 403 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 CCTCATCCTTCAGCACCGATG 0.602 9 12 --- --- --- --- PASS CYP2D6 1565 broad.mit.edu 37 22 42523955 42523955 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:42523955C>T uc003bce.2 - 6 964 c.874G>A c.(874-876)GAT>AAT p.D292N uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Intron|CYP2D6_uc003bcf.2_Missense_Mutation_p.D241N NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 292 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 AGGTTCTCATCATTGAAGCTG 0.597 14 96 --- --- --- --- PASS KIAA1644 85352 broad.mit.edu 37 22 44696781 44696781 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:44696781G>A uc003bet.2 - 2 178 c.45C>T c.(43-45)CTC>CTT p.L15L NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN hypothetical protein LOC85352 precursor 15 integral to membrane ovary(1) 1 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GCAATGAGAAGAGGACGGCGA 0.597 7 50 --- --- --- --- PASS BRD1 23774 broad.mit.edu 37 22 50217446 50217446 + Nonsense_Mutation SNP T A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:50217446T>A uc003biv.2 - 1 1007 c.520A>T c.(520-522)AAG>TAG p.K174* BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Nonsense_Mutation_p.K174*|BRD1_uc011arh.1_Nonsense_Mutation_p.K174*|BRD1_uc003biu.3_Nonsense_Mutation_p.K174* NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 174 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) CAGTCGCCCTTGCGCTTCTCA 0.582 6 64 --- --- --- --- PASS CPT1B 1375 broad.mit.edu 37 22 51009322 51009322 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chr22:51009322C>T uc003bmk.3 - 15 2188 c.2026G>A c.(2026-2028)GAG>AAG p.E676K CPT1B_uc003bml.2_Missense_Mutation_p.E676K|CPT1B_uc003bmm.2_Missense_Mutation_p.E676K|CPT1B_uc003bmo.2_Missense_Mutation_p.E676K|CPT1B_uc011asa.1_Missense_Mutation_p.E642K|CPT1B_uc003bmn.2_Missense_Mutation_p.E676K|CPT1B_uc011asb.1_Missense_Mutation_p.E595K|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.E471K|uc003bmr.1_5'Flank NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 676 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) GTGCTGACCTCAGCAAGGAAA 0.577 29 225 --- --- --- --- PASS WWC3 55841 broad.mit.edu 37 X 10109498 10109498 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:10109498G>T uc004csx.3 + 23 3434 c.3236G>T c.(3235-3237)AGG>ATG p.R1079M WWC3_uc010nds.2_Missense_Mutation_p.R743M|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 1079 ovary(4) 4 TTCTTCACAAGGCCAAGGATC 0.463 9 101 --- --- --- --- PASS ASB11 140456 broad.mit.edu 37 X 15311321 15311321 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:15311321G>T uc004cwp.1 - 4 491 c.491C>A c.(490-492)GCC>GAC p.A164D ASB11_uc004cwo.1_Missense_Mutation_p.A143D|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.A147D NM_080873 NP_543149 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box-containing protein 164 ANK 4. intracellular signal transduction breast(2)|skin(1) 3 Hepatocellular(33;0.183) GATGGGCGAGGCCAGGTGCAC 0.542 24 284 --- --- --- --- PASS TMEM27 57393 broad.mit.edu 37 X 15657880 15657880 + Splice_Site SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:15657880C>G uc004cxc.1 - 5 574 c.318_splice c.e5-1 p.R106_splice NM_020665 NP_065716 Q9HBJ8 TMM27_HUMAN transmembrane protein 27 precursor proteolysis integral to membrane metallopeptidase activity|peptidyl-dipeptidase activity ovary(1) 1 Hepatocellular(33;0.183) CTTGTTCATTCTAAAATGCAA 0.313 16 215 --- --- --- --- PASS SCML2 10389 broad.mit.edu 37 X 18283874 18283874 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:18283874G>T uc004cyl.2 - 8 936 c.779C>A c.(778-780)GCA>GAA p.A260E SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.A260E|SCML2_uc011miz.1_Missense_Mutation_p.A194E|SCML2_uc010nfc.2_5'UTR NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 260 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) ATGCTGGCTTGCTTCGGAAGG 0.368 24 177 --- --- --- --- PASS PHKA2 5256 broad.mit.edu 37 X 18919706 18919706 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:18919706G>C uc004cyv.3 - 27 3354 c.2924C>G c.(2923-2925)TCC>TGC p.S975C PHKA2_uc004cyu.3_Missense_Mutation_p.S273C|PHKA2_uc010nfe.1_Missense_Mutation_p.S25C|PHKA2_uc010nff.1_Intron NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 975 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) GGATGTGGAGGAGTGGATAGG 0.557 11 61 --- --- --- --- PASS GPR64 10149 broad.mit.edu 37 X 19021157 19021157 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:19021157G>A uc004cyx.2 - 24 2201 c.2037C>T c.(2035-2037)TTC>TTT p.F679F GPR64_uc004cyy.2_Silent_p.F676F|GPR64_uc004cyz.2_Silent_p.F665F|GPR64_uc004czb.2_Silent_p.F679F|GPR64_uc004czc.2_Silent_p.F663F|GPR64_uc004czd.2_Silent_p.F655F|GPR64_uc004cze.2_Silent_p.F649F|GPR64_uc004czf.2_Silent_p.F641F|GPR64_uc004cza.2_Silent_p.F657F|GPR64_uc004cyw.2_Silent_p.F663F|GPR64_uc010nfj.2_Silent_p.F560F NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 679 Helical; Name=2; (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) AGTCCAGGAGGAAGACCAGGT 0.463 14 136 --- --- --- --- PASS DDX53 168400 broad.mit.edu 37 X 23018387 23018387 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:23018387A>G uc004daj.2 + 1 301 c.213A>G c.(211-213)ATA>ATG p.I71M NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 71 KH. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 GATCAAAAATAAAAGATCTAC 0.398 9 129 --- --- --- --- PASS FAM48B1 100130302 broad.mit.edu 37 X 24380969 24380969 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:24380969G>C uc011mjx.1 + 1 92 c.92G>C c.(91-93)AGG>ACG p.R31T NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 TACTCACCTAGGGCGGGAAAA 0.423 13 167 --- --- --- --- PASS FAM48B1 100130302 broad.mit.edu 37 X 24380970 24380970 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:24380970G>T uc011mjx.1 + 1 93 c.93G>T c.(91-93)AGG>AGT p.R31S NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 ACTCACCTAGGGCGGGAAAAA 0.423 12 164 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34148947 34148947 + Silent SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:34148947G>C uc004ddg.2 - 1 1482 c.1449C>G c.(1447-1449)CCC>CCG p.P483P NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 483 ovary(4)|central_nervous_system(1) 5 GACGTGTCTTGGGATGTTCCG 0.617 18 95 --- --- --- --- PASS CXorf36 79742 broad.mit.edu 37 X 45013207 45013207 + Silent SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:45013207C>A uc004dgg.2 - 4 984 c.909G>T c.(907-909)GGG>GGT p.G303G NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN hypothetical protein LOC79742 isoform 1 303 extracellular region lung(1) 1 TGAACAGATGCCCGTTGTTAA 0.537 7 80 --- --- --- --- PASS ZNF81 347344 broad.mit.edu 37 X 47775612 47775612 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:47775612G>C uc010nhy.1 + 6 1935 c.1567G>C c.(1567-1569)GAA>CAA p.E523Q NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 523 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) TCATACTGGAGAAAAGTCTTA 0.418 15 121 --- --- --- --- PASS GPKOW 27238 broad.mit.edu 37 X 48973958 48973958 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:48973958T>C uc004dmr.2 - 5 780 c.773A>G c.(772-774)TAT>TGT p.Y258C NM_015698 NP_056513 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 258 KOW 1. nucleus nucleic acid binding ovary(2) 2 TACCTTCCCATAGAGGCCTCG 0.478 11 101 --- --- --- --- PASS CACNA1F 778 broad.mit.edu 37 X 49066420 49066420 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:49066420C>A uc004dnb.2 - 40 4766 c.4704G>T c.(4702-4704)GAG>GAT p.E1568D CACNA1F_uc010nip.2_Missense_Mutation_p.E1557D NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1568 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GGGGGATGACCTCATCTAGCA 0.592 8 97 --- --- --- --- PASS CCDC22 28952 broad.mit.edu 37 X 49105371 49105371 + Nonsense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:49105371G>T uc004dnd.1 + 13 1681 c.1525G>T c.(1525-1527)GAA>TAA p.E509* CCDC22_uc004dnc.1_RNA NM_014008 NP_054727 O60826 CCD22_HUMAN coiled-coil domain containing 22 509 Potential. central_nervous_system(1) 1 GAAGCAGAAGGAAGAGATCAC 0.607 5 39 --- --- --- --- PASS SHROOM4 57477 broad.mit.edu 37 X 50350966 50350966 + Nonsense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:50350966G>C uc004dpe.2 - 6 3202 c.3176C>G c.(3175-3177)TCA>TGA p.S1059* SHROOM4_uc004dpd.3_RNA NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 1059 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GTGACTCTCTGAGAAGGCACG 0.557 10 87 --- --- --- --- PASS SHROOM4 57477 broad.mit.edu 37 X 50377427 50377427 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:50377427C>G uc004dpe.2 - 4 1672 c.1646G>C c.(1645-1647)GGC>GCC p.G549A SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.G433A NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 549 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) TGCCTCTGTGCCACTAGCTGC 0.602 8 35 --- --- --- --- PASS BMP15 9210 broad.mit.edu 37 X 50659053 50659053 + Missense_Mutation SNP T G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:50659053T>G uc011mnw.1 + 2 625 c.625T>G c.(625-627)TGT>GGT p.C209G NM_005448 NP_005439 O95972 BMP15_HUMAN bone morphogenetic protein 15 precursor 209 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity ovary(2) 2 Ovarian(276;0.236) CCGTTTTATGTGTCAGCAGCA 0.428 19 172 --- --- --- --- PASS SPANXN5 494197 broad.mit.edu 37 X 52825663 52825663 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:52825663C>G uc004drc.1 - 2 84 c.84G>C c.(82-84)GAG>GAC p.E28D NM_001009616 NP_001009616 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 28 0 Ovarian(276;0.236) TGTTTGGTGTCTCCTGCATCT 0.408 16 145 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53616585 53616585 + Silent SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:53616585C>A uc004dsp.2 - 36 4785 c.4383G>T c.(4381-4383)GTG>GTT p.V1461V HUWE1_uc004dsn.2_Silent_p.V286V NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1461 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TCAGGTCACACACACGGTATA 0.473 18 165 --- --- --- --- PASS GNL3L 54552 broad.mit.edu 37 X 54578751 54578751 + Missense_Mutation SNP C T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:54578751C>T uc004dth.1 + 13 1347 c.1208C>T c.(1207-1209)CCA>CTA p.P403L GNL3L_uc004dti.2_RNA NM_019067 NP_061940 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 403 ribosome biogenesis nucleolus GTP binding ovary(1) 1 TATATACCACCACCAGCCACT 0.502 12 126 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54776515 54776515 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:54776515C>A uc004dtj.2 - 13 3785 c.3755G>T c.(3754-3756)CGA>CTA p.R1252L NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 1252 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TGTCACCAGTCGGATGTCTGC 0.592 9 50 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54783527 54783527 + Missense_Mutation SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:54783527G>A uc004dtj.2 - 8 3010 c.2980C>T c.(2980-2982)CCT>TCT p.P994S NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 994 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 ATGGCCTCAGGGAGGATGCTA 0.542 5 62 --- --- --- --- PASS PFKFB1 5207 broad.mit.edu 37 X 54975540 54975540 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:54975540C>G uc004dty.1 - 9 1032 c.961G>C c.(961-963)GAG>CAG p.E321Q PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.E256Q NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 321 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 TTCCACTGCTCATAGGGGACA 0.567 14 123 --- --- --- --- PASS APEX2 27301 broad.mit.edu 37 X 55028721 55028721 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:55028721G>T uc004dtz.2 + 3 355 c.279G>T c.(277-279)GTG>GTT p.V93V APEX2_uc011mom.1_Intron NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 93 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 CTACCCCAGTGGCTGCTGAAG 0.552 Other_BER_factors 10 29 --- --- --- --- PASS APEX2 27301 broad.mit.edu 37 X 55028722 55028722 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:55028722G>T uc004dtz.2 + 3 356 c.280G>T c.(280-282)GCT>TCT p.A94S APEX2_uc011mom.1_Intron NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 94 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 TACCCCAGTGGCTGCTGAAGA 0.547 Other_BER_factors 10 31 --- --- --- --- PASS FAM123B 139285 broad.mit.edu 37 X 63412770 63412770 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:63412770C>A uc004dvo.2 - 2 670 c.397G>T c.(397-399)GCC>TCC p.A133S NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 133 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GCCCCATGGGCACTCTGAGAG 0.542 13 101 --- --- --- --- PASS MTMR8 55613 broad.mit.edu 37 X 63445504 63445504 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:63445504C>G uc011mou.1 - 10 1220 c.1152G>C c.(1150-1152)AAG>AAC p.K384N ASB12_uc004dvp.1_Splice_Site_p.M1_splice|ASB12_uc004dvq.1_Missense_Mutation_p.K9N|ASB12_uc004dvr.1_Missense_Mutation_p.K9N NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 TGAGGTTCATCTTGGCTAATT 0.493 3 18 --- --- --- --- PASS FOXO4 4303 broad.mit.edu 37 X 70320607 70320607 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:70320607C>G uc004dys.1 + 2 880 c.527C>G c.(526-528)TCT>TGT p.S176C FOXO4_uc010nkz.2_Missense_Mutation_p.S176C|FOXO4_uc004dyt.1_Missense_Mutation_p.S121C NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 176 Fork-head. cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) GGCAAAAGCTCTTGGTGGATG 0.527 OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 33 --- --- --- --- PASS PIN4 5303 broad.mit.edu 37 X 71416654 71416654 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:71416654A>G uc004eam.2 + 3 247 c.212A>G c.(211-213)GAA>GGA p.E71G PIN4_uc004eao.1_Missense_Mutation_p.E71G NM_006223 NP_006214 Q9Y237 PIN4_HUMAN protein (peptidyl-prolyl cis/trans isomerase) 46 PpiC. protein folding|rRNA processing cytoplasm|mitochondrial matrix|mitochondrial matrix|nucleolus|nucleolus|preribosome|spindle|spindle bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity 0 Renal(35;0.156) ATTCTATGTGAAAAACATGGC 0.408 19 122 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73046929 73046929 + RNA SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:73046929G>T uc004ebn.2 + 1 c.34890G>T XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 TATACTTTGGGCCTTCTATCC 0.468 41 239 --- --- --- --- PASS SLC16A2 6567 broad.mit.edu 37 X 73744338 73744338 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:73744338C>A uc004ebt.2 + 3 1108 c.942C>A c.(940-942)AGC>AGA p.S314R SLC16A2_uc010nlr.1_5'UTR NM_006517 NP_006508 P36021 MOT8_HUMAN solute carrier family 16, member 2 240 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|ovary(1) 3 Pyruvic acid(DB00119) CTGGGAGTAGCATTTTCTCCA 0.537 8 70 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75650413 75650413 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:75650413G>T uc004ecm.1 + 1 2297 c.2090G>T c.(2089-2091)AGA>ATA p.R697I NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 697 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GATGCTGCCAGAGCCTTTGCT 0.473 6 33 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76920166 76920166 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:76920166C>A uc004ecp.3 - 11 4143 c.3911G>T c.(3910-3912)GGA>GTA p.G1304V ATRX_uc004ecq.3_Missense_Mutation_p.G1266V|ATRX_uc004eco.3_Missense_Mutation_p.G1089V|ATRX_uc004ecr.2_Missense_Mutation_p.G1236V NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1304 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) ATTTTGTTTTCCAGTTCTTTT 0.373 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 26 243 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76938172 76938172 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:76938172C>A uc004ecp.3 - 9 2808 c.2576G>T c.(2575-2577)GGA>GTA p.G859V ATRX_uc004ecq.3_Missense_Mutation_p.G821V|ATRX_uc004eco.3_Missense_Mutation_p.G644V|ATRX_uc004ecr.2_Missense_Mutation_p.G791V|ATRX_uc010nlx.1_Missense_Mutation_p.G830V|ATRX_uc010nly.1_Missense_Mutation_p.G804V NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 859 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) ATTATCCATTCCTTTTTTGCT 0.318 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 82 758 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76938658 76938658 + Missense_Mutation SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:76938658T>C uc004ecp.3 - 9 2322 c.2090A>G c.(2089-2091)AAA>AGA p.K697R ATRX_uc004ecq.3_Missense_Mutation_p.K659R|ATRX_uc004eco.3_Missense_Mutation_p.K482R|ATRX_uc004ecr.2_Missense_Mutation_p.K629R|ATRX_uc010nlx.1_Missense_Mutation_p.K668R|ATRX_uc010nly.1_Missense_Mutation_p.K642R NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 697 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CTTATCCTTTTTTCTCACTGG 0.353 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 36 507 --- --- --- --- PASS ZCCHC5 203430 broad.mit.edu 37 X 77912921 77912921 + Missense_Mutation SNP A C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:77912921A>C uc004edc.1 - 2 1293 c.997T>G c.(997-999)TGC>GGC p.C333G NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 333 nucleic acid binding|zinc ion binding ovary(1) 1 TCCCCTTGGCAGAGTTGATGG 0.468 9 76 --- --- --- --- PASS CYLC1 1538 broad.mit.edu 37 X 83128432 83128432 + Nonsense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:83128432C>G uc004eei.1 + 4 737 c.716C>G c.(715-717)TCA>TGA p.S239* CYLC1_uc004eeh.1_Nonsense_Mutation_p.S238* NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 239 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 GAGATTTGCTCAGAAAATAGT 0.333 17 61 --- --- --- --- PASS DACH2 117154 broad.mit.edu 37 X 85906092 85906092 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:85906092A>G uc004eew.2 + 4 864 c.694A>G c.(694-696)ATG>GTG p.M232V DACH2_uc004eex.2_Missense_Mutation_p.M219V|DACH2_uc010nmq.2_Missense_Mutation_p.M98V|DACH2_uc011mra.1_Missense_Mutation_p.M65V|DACH2_uc010nmr.2_Missense_Mutation_p.M13V NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 GATGAAGCTTATGGCTATGAA 0.388 7 39 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177476 89177476 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:89177476A>T uc004efe.2 + 2 441 c.392A>T c.(391-393)CAT>CTT p.H131L NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 131 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AAAGATGCCCATGCCACCCAC 0.567 13 113 --- --- --- --- PASS ARMCX3 51566 broad.mit.edu 37 X 100880489 100880489 + Missense_Mutation SNP A T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:100880489A>T uc004ehz.1 + 5 1053 c.520A>T c.(520-522)ACT>TCT p.T174S ARMCX3_uc004eia.1_Missense_Mutation_p.T174S|ARMCX3_uc004eib.1_Missense_Mutation_p.T174S|ARMCX3_uc004eic.1_Missense_Mutation_p.T174S NM_016607 NP_057691 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 174 ARM 2. integral to membrane binding ovary(1)|lung(1) 2 GATTCTCAATACTCGGGATCC 0.393 26 256 --- --- --- --- PASS ZMAT1 84460 broad.mit.edu 37 X 101138538 101138538 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:101138538C>G uc004eim.2 - 2 4846 c.1348G>C c.(1348-1350)GTT>CTT p.V450L ZMAT1_uc011mrl.1_Missense_Mutation_p.V621L|ZMAT1_uc004ein.2_Missense_Mutation_p.V450L|ZMAT1_uc011mrm.1_Missense_Mutation_p.V450L NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 450 nucleus zinc ion binding ovary(1) 1 CTTTCTTCAACAGATTTCTTT 0.358 25 178 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109694590 109694590 + Missense_Mutation SNP G C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:109694590G>C uc004eor.1 + 3 991 c.745G>C c.(745-747)GCT>CCT p.A249P RGAG1_uc011msr.1_Missense_Mutation_p.A249P NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 249 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCTAATGACTGCTCTAGCCTC 0.488 19 151 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111025199 111025199 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:111025199G>T uc004epl.1 - 8 2983 c.2064C>A c.(2062-2064)GAC>GAA p.D688E TRPC5_uc004epm.1_Missense_Mutation_p.D688E NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 688 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TCCGTCTACCGTCAGGGTCTC 0.368 45 218 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111195319 111195319 + Silent SNP G C C rs139867130 TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:111195319G>C uc004epl.1 - 2 1249 c.330C>G c.(328-330)GGC>GGG p.G110G TRPC5_uc004epm.1_Silent_p.G110G NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 110 ANK 3.|Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GCTCCACAGCGCCCACCACTT 0.547 44 196 --- --- --- --- PASS KLHL13 90293 broad.mit.edu 37 X 117033294 117033294 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:117033294C>A uc004eql.2 - 7 1607 c.1545G>T c.(1543-1545)TGG>TGT p.W515C KLHL13_uc004eqk.2_Missense_Mutation_p.W464C|KLHL13_uc011mtn.1_Missense_Mutation_p.W355C|KLHL13_uc011mto.1_Missense_Mutation_p.W509C|KLHL13_uc011mtp.1_Missense_Mutation_p.W517C|KLHL13_uc004eqm.2_Missense_Mutation_p.W464C|KLHL13_uc011mtq.1_Missense_Mutation_p.W499C NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 515 Kelch 4. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 CCTTCTGGATCCATTTGTCAG 0.413 107 542 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117815708 117815708 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:117815708G>T uc004eqp.2 + 51 5977 c.5914G>T c.(5914-5916)GCT>TCT p.A1972S DOCK11_uc004eqq.2_Missense_Mutation_p.A1751S NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1972 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 TGACAGCCAAGCTAGCAAGTA 0.363 19 195 --- --- --- --- PASS ATP1B4 23439 broad.mit.edu 37 X 119500453 119500453 + Missense_Mutation SNP C A A rs147823363 byFrequency TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:119500453C>A uc004esr.2 + 2 221 c.137C>A c.(136-138)ACG>AAG p.T46K ATP1B4_uc004esq.2_Missense_Mutation_p.T46K|ATP1B4_uc011mtx.1_Missense_Mutation_p.T46K|ATP1B4_uc011mty.1_Missense_Mutation_p.T46K NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 46 Glu-rich.|Nuclear (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 GCTCGGGTGACGGTGGTGCCC 0.353 9 102 --- --- --- --- PASS PHF6 84295 broad.mit.edu 37 X 133549058 133549058 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:133549058G>T uc004exj.2 + 8 944 c.742G>T c.(742-744)GGC>TGC p.G248C PHF6_uc004exk.2_Missense_Mutation_p.G248C|PHF6_uc011mvk.1_Missense_Mutation_p.G214C|PHF6_uc004exh.2_Missense_Mutation_p.G249C|PHF6_uc010nrr.2_Missense_Mutation_p.G248C|PHF6_uc004exi.2_Missense_Mutation_p.G249C NM_001015877 NP_001015877 Q8IWS0 PHF6_HUMAN PHD finger protein 6 isoform 1 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) GTTTTCTTCTGGCACAGTCCA 0.328 13 96 --- --- --- --- PASS SAGE1 55511 broad.mit.edu 37 X 134991916 134991916 + Silent SNP G A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:134991916G>A uc004ezh.2 + 14 1868 c.1701G>A c.(1699-1701)CCG>CCA p.P567P SAGE1_uc010nry.1_Silent_p.P536P|SAGE1_uc011mvv.1_Silent_p.P191P NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 567 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTGGTATTCCGGCCATGAGTA 0.418 31 267 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135430018 135430018 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:135430018G>T uc004ezu.1 + 6 4444 c.4153G>T c.(4153-4155)GCC>TCC p.A1385S GPR112_uc010nsb.1_Missense_Mutation_p.A1180S|GPR112_uc010nsc.1_Missense_Mutation_p.A1152S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1385 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AAGCACGAGTGCCCTTCCAGC 0.448 33 345 --- --- --- --- PASS CXorf66 347487 broad.mit.edu 37 X 139038712 139038712 + Silent SNP T C C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:139038712T>C uc004fbb.2 - 3 451 c.429A>G c.(427-429)CTA>CTG p.L143L NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 143 Ser-rich.|Cytoplasmic (Potential). integral to membrane 0 ATGGCTTTTGTAGACTTGAGG 0.413 62 544 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140994934 140994934 + Missense_Mutation SNP C G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:140994934C>G uc004fbt.2 + 4 2030 c.1744C>G c.(1744-1746)CAG>GAG p.Q582E MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 582 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTACTTTCCTCAGAGCCCTCA 0.592 HNSCC(15;0.026) 160 738 --- --- --- --- PASS TMEM185A 84548 broad.mit.edu 37 X 148685689 148685689 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:148685689G>T uc011mxq.1 - 5 782 c.471C>A c.(469-471)GCC>GCA p.A157A HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Silent_p.A98A|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Silent_p.A74A NM_032508 NP_115897 Q8NFB2 T185A_HUMAN transmembrane protein 185A 157 Helical; (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CCAGTCTTAAGGCAATGAATA 0.264 5 96 --- --- --- --- PASS TMEM185A 84548 broad.mit.edu 37 X 148685690 148685690 + Missense_Mutation SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:148685690G>T uc011mxq.1 - 5 781 c.470C>A c.(469-471)GCC>GAC p.A157D HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.A98D|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.A74D NM_032508 NP_115897 Q8NFB2 T185A_HUMAN transmembrane protein 185A 157 Helical; (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CAGTCTTAAGGCAATGAATAT 0.269 5 96 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150909321 150909321 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:150909321C>A uc004fey.1 + 5 654 c.430C>A c.(430-432)CTA>ATA p.L144I NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 144 Helical; Name=H1; (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTACTGCTGGCTATTTGTCAT 0.552 35 304 --- --- --- --- PASS MAGEA4 4103 broad.mit.edu 37 X 151092696 151092696 + Missense_Mutation SNP A G G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:151092696A>G uc004fez.2 + 3 716 c.560A>G c.(559-561)TAT>TGT p.Y187C MAGEA4_uc004ffa.2_Missense_Mutation_p.Y187C|MAGEA4_uc004ffb.2_Missense_Mutation_p.Y187C|MAGEA4_uc004ffc.2_Missense_Mutation_p.Y187C|MAGEA4_uc004ffd.2_Missense_Mutation_p.Y187C NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 187 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGCCTTTCCTATGATGGCCTG 0.542 36 181 --- --- --- --- PASS GABRQ 55879 broad.mit.edu 37 X 151817747 151817747 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:151817747G>T uc004ffp.1 + 5 581 c.561G>T c.(559-561)CTG>CTT p.L187L NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 187 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCCTGGATCTGCATAAATTCC 0.502 16 215 --- --- --- --- PASS ZNF185 7739 broad.mit.edu 37 X 152087623 152087623 + Silent SNP G T T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:152087623G>T uc010ntv.1 + 7 565 c.528G>T c.(526-528)CGG>CGT p.R176R ZNF185_uc011myg.1_Silent_p.R176R|ZNF185_uc011myh.1_Silent_p.R176R|ZNF185_uc011myi.1_Silent_p.R176R|ZNF185_uc011myj.1_Silent_p.R176R|ZNF185_uc011myk.1_Silent_p.R176R|ZNF185_uc004fgw.3_Silent_p.R41R|ZNF185_uc004fgu.2_5'UTR|ZNF185_uc004fgv.2_5'Flank NM_007150 NP_009081 O15231 ZN185_HUMAN zinc finger protein 185 176 cytoplasm|cytoskeleton|focal adhesion zinc ion binding ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AACAGAAACGGAGGTAATGGA 0.478 4 30 --- --- --- --- PASS DNASE1L1 1774 broad.mit.edu 37 X 153631282 153631282 + Splice_Site SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:153631282C>A uc004fks.1 - 7 965 c.774_splice c.e7+1 p.E258_splice RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Splice_Site_p.E258_splice|DNASE1L1_uc004fku.1_Splice_Site_p.E258_splice|DNASE1L1_uc004fkv.1_Splice_Site_p.E258_splice|DNASE1L1_uc004fkw.1_Splice_Site_p.E258_splice NM_006730 NP_006721 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 precursor DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) CATCCCTTCACCTCCTCCTCG 0.677 9 87 --- --- --- --- PASS DNASE1L1 1774 broad.mit.edu 37 X 153631283 153631283 + Missense_Mutation SNP C A A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3b435ddf-a496-40a2-82e8-6b10391aae5d 9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324 g.chrX:153631283C>A uc004fks.1 - 7 965 c.774G>T c.(772-774)GAG>GAT p.E258D RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Missense_Mutation_p.E258D|DNASE1L1_uc004fku.1_Missense_Mutation_p.E258D|DNASE1L1_uc004fkv.1_Missense_Mutation_p.E258D|DNASE1L1_uc004fkw.1_Missense_Mutation_p.E258D NM_006730 NP_006721 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 precursor 258 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) ATCCCTTCACCTCCTCCTCGG 0.677 9 87 --- --- --- --- PASS