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 NPHP4 261734 broad.mit.edu 37 1 5967195 5967195 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:5967195G>C uc001alq.1 - 13 1857 c.1591C>G c.(1591-1593)CAG>GAG p.Q531E NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_Intron|NPHP4_uc001alt.1_Intron|NPHP4_uc009vlu.1_5'Flank NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 531 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GGGGAGGCCTGAGAGCCATGG 0.617 6 7 --- --- --- --- PASS CASZ1 54897 broad.mit.edu 37 1 10699644 10699644 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:10699644G>A uc001aro.2 - 21 4955 c.4635C>T c.(4633-4635)GCC>GCT p.A1545A NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1545 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) AGAAGCCCGCGGCGCTGATCA 0.662 7 28 --- --- --- --- PASS PLEKHM2 23207 broad.mit.edu 37 1 16053734 16053734 + Silent SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:16053734C>T uc010obo.1 + 9 1394 c.1167C>T c.(1165-1167)TCC>TCT p.S389S NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 389 Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GCGAGCGCTCCGAGCCGGGCC 0.672 3 5 --- --- --- --- PASS PLA2G5 5322 broad.mit.edu 37 1 20412659 20412659 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:20412659G>A uc001bcy.2 + 3 392 c.124G>A c.(124-126)GGC>AGC p.G42S PLA2G5_uc001bcw.2_RNA|PLA2G5_uc001bcx.2_Missense_Mutation_p.G73S NM_000929 NP_000920 P39877 PA2G5_HUMAN phospholipase A2, group V precursor 42 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity skin(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) GACAAACTACGGCTTCTACGG 0.557 17 72 --- --- --- --- PASS C1orf128 57095 broad.mit.edu 37 1 24112837 24112837 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:24112837C>T uc001bhq.2 + 5 588 c.458C>T c.(457-459)TCA>TTA p.S153L C1orf128_uc010oeb.1_Missense_Mutation_p.S60L NM_020362 NP_065095 Q9GZP4 PITH1_HUMAN chromosome 1 open reading frame 128 153 PITH. 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Breast(348;0.0222)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.97e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) TATCATCTCTCAATTCATATT 0.383 14 88 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34071503 34071503 + Silent SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:34071503G>T uc001bxn.1 - 42 6338 c.6309C>A c.(6307-6309)GTC>GTA p.V2103V CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxo.1_Intron NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2103 Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGGAAGCGGCGACGGGAGGAG 0.328 6 55 --- --- --- --- PASS DMRTB1 63948 broad.mit.edu 37 1 53925207 53925207 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:53925207G>A uc001cvq.1 + 1 136 c.81G>A c.(79-81)GCG>GCA p.A27A NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 27 DM. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AGGGACACGCGGGCAAATGCC 0.617 11 30 --- --- --- --- PASS GBP2 2634 broad.mit.edu 37 1 89586879 89586879 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:89586879G>A uc001dmz.1 - 3 536 c.265C>T c.(265-267)CCA>TCA p.P89S GBP2_uc001dmy.1_RNA NM_004120 NP_004111 P32456 GBP2_HUMAN guanylate binding protein 2, 89 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1) 1 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) GTGTGTTCTGGCTTCTTGGGA 0.428 42 168 --- --- --- --- PASS GBP2 2634 broad.mit.edu 37 1 89587622 89587622 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:89587622G>A uc001dmz.1 - 2 299 c.28C>T c.(28-30)CCA>TCA p.P10S GBP2_uc001dmy.1_RNA NM_004120 NP_004111 P32456 GBP2_HUMAN guanylate binding protein 2, 10 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1) 1 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) AGGCTCATTGGGCCCGGCAAG 0.488 42 188 --- --- --- --- PASS DENND2D 79961 broad.mit.edu 37 1 111738540 111738540 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:111738540C>T uc001eak.1 - 6 843 c.643G>A c.(643-645)GAG>AAG p.E215K DENND2D_uc001eal.1_Missense_Mutation_p.E212K NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 215 DENN. ovary(1) 1 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TAACCCACCTCAGTGCCTGAG 0.552 37 197 --- --- --- --- PASS HIST2H2AB 317772 broad.mit.edu 37 1 149859299 149859299 + Silent SNP G C C rs140091148 byFrequency TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:149859299G>C uc001ete.2 - 1 168 c.168C>G c.(166-168)CTC>CTG p.L56L HIST2H2BE_uc001etc.2_5'Flank NM_175065 NP_778235 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 56 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|breast(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TCAGGTACTCGAGGACCGCCG 0.667 17 97 --- --- --- --- PASS HIST2H2AB 317772 broad.mit.edu 37 1 149859370 149859370 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:149859370G>C uc001ete.2 - 1 97 c.97C>G c.(97-99)CGC>GGC p.R33G HIST2H2BE_uc001etc.2_5'Flank NM_175065 NP_778235 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 33 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|breast(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CGCAGCAAGCGGTGCACTCGC 0.682 26 150 --- --- --- --- PASS TARS2 80222 broad.mit.edu 37 1 150469036 150469036 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:150469036G>A uc001euq.2 + 8 860 c.853G>A c.(853-855)GAA>AAA p.E285K TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Intron|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Intron NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 285 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CCCCACAACAGAATTGCTGAG 0.547 38 185 --- --- --- --- PASS THBS3 7059 broad.mit.edu 37 1 155171307 155171307 + Silent SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:155171307C>T uc001fix.2 - 11 1253 c.1230G>A c.(1228-1230)CAG>CAA p.Q410Q RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.Q401Q|THBS3_uc001fiz.2_Silent_p.Q410Q|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Silent_p.Q290Q|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 410 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGAGGCAGCCCTGGCTCTGGT 0.627 12 65 --- --- --- --- PASS C1orf61 10485 broad.mit.edu 37 1 156376974 156376974 + Silent SNP A G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:156376974A>G uc001fou.1 - 6 438 c.321T>C c.(319-321)CTT>CTC p.L107L C1orf61_uc001fot.1_3'UTR|C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron NM_006365 NP_006356 Q13536 CROC4_HUMAN transcriptional activator of the c-fos promoter 107 nucleus skin(1) 1 Hepatocellular(266;0.158) aggaataagcaagatcatgga 0.139 5 25 --- --- --- --- PASS C1orf92 149499 broad.mit.edu 37 1 156897312 156897312 + Silent SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:156897312C>T uc001fqm.2 + 7 859 c.687C>T c.(685-687)AAC>AAT p.N229N C1orf92_uc001fql.2_Silent_p.N14N NM_144702 NP_653303 Q8N4P6 LRC71_HUMAN hypothetical protein LOC149499 229 LRR 3. 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTCTGCGGAACAATAACATCG 0.627 9 21 --- --- --- --- PASS FCRL2 79368 broad.mit.edu 37 1 157737189 157737189 + Missense_Mutation SNP A G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:157737189A>G uc001fre.2 - 6 1053 c.994T>C c.(994-996)TAC>CAC p.Y332H FCRL2_uc001frd.2_Missense_Mutation_p.Y79H|FCRL2_uc010phz.1_Missense_Mutation_p.Y332H|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 332 Ig-like C2-type 4.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TAAAATTGGTACAAGATTGGG 0.587 26 132 --- --- --- --- PASS RGS4 5999 broad.mit.edu 37 1 163044272 163044272 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:163044272G>A uc009wuy.2 + 5 1051 c.540G>A c.(538-540)CCG>CCA p.P180P RGS4_uc001gcl.3_Silent_p.P277P|RGS4_uc009wuz.2_3'UTR|RGS4_uc009wva.2_Silent_p.P162P NM_005613 NP_005604 P49798 RGS4_HUMAN regulator of G-protein signaling 4 isoform 2 180 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(2)|central_nervous_system(1) 3 TGGTCAACCCGTCCAGCTGTG 0.517 8 349 --- --- --- --- PASS ATP1B1 481 broad.mit.edu 37 1 169101419 169101419 + RNA SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:169101419C>G uc001gfs.1 + 6 c.1663C>G P05026 AT1B1_HUMAN Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system. ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 all_hematologic(923;0.208) GGGAACTGCCCTTTAAATTTT 0.413 5 17 --- --- --- --- PASS C1orf49 84066 broad.mit.edu 37 1 178485756 178485756 + Missense_Mutation SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:178485756G>T uc001glt.1 + 5 335 c.223G>T c.(223-225)GAT>TAT p.D75Y C1orf49_uc001glu.1_Missense_Mutation_p.D75Y|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Missense_Mutation_p.D83Y NM_032126 NP_115502 Q5T0J7 CA049_HUMAN hypothetical protein LOC84066 75 Potential. microtubule cytoskeleton 0 TTAGATAAAGGATCTAATGGA 0.299 7 58 --- --- --- --- PASS IRF6 3664 broad.mit.edu 37 1 209964183 209964183 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:209964183C>G uc001hhq.1 - 7 980 c.717G>C c.(715-717)CAG>CAC p.Q239H IRF6_uc010psm.1_Missense_Mutation_p.Q144H|IRF6_uc009xct.1_Missense_Mutation_p.Q239H NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 239 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CGGTCATGGTCTGCCCGTACT 0.577 HNSCC(57;0.16) 38 165 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228468045 228468045 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:228468045G>A uc009xez.1 + 29 7873 c.7829G>A c.(7828-7830)CGG>CAG p.R2610Q OBSCN_uc001hsn.2_Missense_Mutation_p.R2610Q|OBSCN_uc001hsp.1_Missense_Mutation_p.R309Q|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2610 Ig-like 25. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CACAAGGGCCGGCGCCACACG 0.622 6 10 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235866082 235866082 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:235866082C>G uc001hxj.2 - 45 10514 c.10339G>C c.(10339-10341)GAG>CAG p.E3447Q LYST_uc001hxi.2_Missense_Mutation_p.E671Q NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3447 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCTCGGGTCTCCCTGAAAGCA 0.498 Chediak-Higashi_syndrome 4 243 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247419665 247419665 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr1:247419665C>G uc010pyu.1 + 2 292 c.292C>G c.(292-294)CAG>GAG p.Q98E NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 98 Helical; Name=3; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) GCTCTTCACCCAGGCAATATT 0.413 33 170 --- --- --- --- PASS ITGB1BP1 9270 broad.mit.edu 37 2 9558757 9558757 + Nonsense_Mutation SNP T A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:9558757T>A uc002qzj.2 - 2 247 c.70A>T c.(70-72)AAG>TAG p.K24* ITGB1BP1_uc002qzk.2_Nonsense_Mutation_p.K24*|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Intron|ITGB1BP1_uc002qzn.1_Nonsense_Mutation_p.K24* NM_004763 NP_004754 O14713 ITBP1_HUMAN integrin cytoplasmic domain-associated protein 1 24 Ser/Thr-rich. cell migration|cell-matrix adhesion|intracellular protein kinase cascade cytosol|lamellipodium|membrane|ruffle protein binding|protein binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.23) TTCCCTACCTTGCTCTTAGTA 0.428 81 388 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24964741 24964741 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:24964741G>C uc002rfk.2 + 17 3650 c.3392G>C c.(3391-3393)AGA>ACA p.R1131T NCOA1_uc010eye.2_Missense_Mutation_p.R1131T|NCOA1_uc002rfi.2_Missense_Mutation_p.R980T|NCOA1_uc002rfj.2_Missense_Mutation_p.R1131T|NCOA1_uc002rfl.2_Missense_Mutation_p.R1131T|NCOA1_uc010eyf.2_Missense_Mutation_p.R24T NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 1131 Gln-rich. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCAGCAAAGAGCCATGCTT 0.537 T PAX3 alveolar rhadomyosarcoma 6 52 --- --- --- --- PASS CDC42EP3 10602 broad.mit.edu 37 2 37873428 37873428 + Silent SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:37873428C>A uc002rqi.1 - 2 1296 c.303G>T c.(301-303)CCG>CCT p.P101P NM_006449 NP_006440 Q9UKI2 BORG2_HUMAN Cdc42 effector protein 3 101 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding 0 all_hematologic(82;0.172) TTTTGAGCACCGGGGAGGGCG 0.532 4 182 --- --- --- --- PASS ATP6V1B1 525 broad.mit.edu 37 2 71185479 71185479 + Nonsense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:71185479C>A uc002shj.2 + 4 377 c.290C>A c.(289-291)TCA>TAA p.S97* ATP6V1B1_uc002shi.1_Nonsense_Mutation_p.S97*|ATP6V1B1_uc010fdv.2_Nonsense_Mutation_p.S97*|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Nonsense_Mutation_p.S55* NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 97 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 GAAGGGACATCAGGGATCGAT 0.542 23 75 --- --- --- --- PASS LOXL3 84695 broad.mit.edu 37 2 74761715 74761715 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:74761715C>T uc002smp.1 - 10 1838 c.1766G>A c.(1765-1767)CGA>CAA p.R589Q LOXL3_uc002smo.1_Missense_Mutation_p.R228Q|LOXL3_uc010ffm.1_Missense_Mutation_p.R533Q|LOXL3_uc002smq.1_Missense_Mutation_p.R444Q|LOXL3_uc010ffn.1_Missense_Mutation_p.R444Q NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 589 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 GAAGTCAGCTCGTCCCAGGTT 0.642 14 51 --- --- --- --- PASS PTCD3 55037 broad.mit.edu 37 2 86352933 86352933 + Missense_Mutation SNP T G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:86352933T>G uc002sqw.2 + 12 947 c.881T>G c.(880-882)TTT>TGT p.F294C PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_Translation_Start_Site NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 294 PPR 4. mitochondrion protein binding ovary(1) 1 GTATACACATTTAATGCATTG 0.313 9 54 --- --- --- --- PASS KDM3A 55818 broad.mit.edu 37 2 86693609 86693609 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:86693609G>A uc002sri.3 + 10 1449 c.1122G>A c.(1120-1122)CAG>CAA p.Q374Q KDM3A_uc010ytj.1_Silent_p.Q374Q|KDM3A_uc010ytk.1_Silent_p.Q322Q NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 374 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 AGTCCTCTCAGATTGGAACTG 0.433 56 274 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145156292 145156292 + Missense_Mutation SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:145156292G>T uc002tvu.2 - 8 2942 c.2462C>A c.(2461-2463)CCA>CAA p.P821Q ZEB2_uc002tvv.2_Missense_Mutation_p.P815Q|ZEB2_uc010zbm.1_Missense_Mutation_p.P792Q|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P850Q NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 821 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) CATTTGTTTTGGTAATGACAA 0.388 5 248 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152410492 152410492 + Silent SNP G A A rs113068669 TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:152410492G>A uc010fnx.2 - 98 14564 c.14373C>T c.(14371-14373)ATC>ATT p.I4791I NEB_uc002txr.2_Silent_p.I1214I NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4791 Nebulin 131. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGTCGGGCACGATGTGGATTT 0.458 41 221 --- --- --- --- PASS KIAA1715 80856 broad.mit.edu 37 2 176860294 176860294 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:176860294G>C uc002ukc.1 - 2 212 c.19C>G c.(19-21)CGA>GGA p.R7G KIAA1715_uc010zer.1_Missense_Mutation_p.R7G|KIAA1715_uc010fqw.1_Missense_Mutation_p.S71W|KIAA1715_uc010zes.1_Missense_Mutation_p.S71W|KIAA1715_uc002ukd.1_5'UTR|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 7 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) ACCCTCCATCGAGAAAATAAT 0.333 3 96 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179476841 179476841 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:179476841C>G uc010zfg.1 - 216 42817 c.42593G>C c.(42592-42594)CGA>CCA p.R14198P uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R7893P|TTN_uc010zfi.1_Missense_Mutation_p.R7826P|TTN_uc010zfj.1_Missense_Mutation_p.R7701P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15125 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) GTCAACATGTCGTTTTGTCAC 0.398 6 44 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179593707 179593707 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:179593707C>A uc010zfg.1 - 62 15550 c.15326G>T c.(15325-15327)AGT>ATT p.S5109I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1770I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6036 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) ATTATCCACACTTCTGATTTG 0.393 10 36 --- --- --- --- PASS CASP10 843 broad.mit.edu 37 2 202060607 202060607 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:202060607C>T uc002uxl.1 + 5 1038 c.620C>T c.(619-621)TCG>TTG p.S207L CASP10_uc002uxi.1_Missense_Mutation_p.S207L|CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Missense_Mutation_p.S207L|CASP10_uc002uxk.1_Missense_Mutation_p.S207L|CASP10_uc010fta.1_Missense_Mutation_p.S207L|CASP10_uc002uxm.1_Missense_Mutation_p.S207L|CASP10_uc010ftb.1_RNA NM_032974 NP_116756 Q92851 CASPA_HUMAN caspase 10 isoform b preproprotein 207 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding skin(3)|ovary(1)|pancreas(1)|breast(1) 6 GAAGCCGAGTCGTATCAAGGA 0.333 48 270 --- --- --- --- PASS PAX3 5077 broad.mit.edu 37 2 223163256 223163256 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr2:223163256G>A uc010fwo.2 - 1 445 c.79C>T c.(79-81)CTG>TTG p.L27L PAX3_uc002vmt.1_Silent_p.L27L|PAX3_uc002vmy.1_Silent_p.L27L|PAX3_uc002vmv.1_Silent_p.L27L|PAX3_uc002vmw.1_Silent_p.L27L|PAX3_uc002vmx.1_Silent_p.L27L|PAX3_uc002vmz.1_Silent_p.L27L|PAX3_uc002vna.1_Silent_p.L27L|CCDC140_uc002vnb.1_Intron NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 27 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTACCTTCCAGCGGGAACCCG 0.716 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 4 16 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108159979 108159979 + Silent SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr3:108159979C>T uc003dxa.1 - 24 2901 c.2844G>A c.(2842-2844)CTG>CTA p.L948L NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 948 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CCCTGGCAGTCAGCTCAGAAT 0.483 34 194 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111603564 111603564 + Nonsense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr3:111603564C>T uc010hqa.2 + 2 1051 c.640C>T c.(640-642)CAG>TAG p.Q214* PHLDB2_uc003dyc.2_Nonsense_Mutation_p.Q241*|PHLDB2_uc003dyd.2_Nonsense_Mutation_p.Q214*|PHLDB2_uc003dyg.2_Nonsense_Mutation_p.Q214*|PHLDB2_uc003dyh.2_Nonsense_Mutation_p.Q214*|PHLDB2_uc003dye.3_Nonsense_Mutation_p.Q214*|PHLDB2_uc003dyf.3_Nonsense_Mutation_p.Q214* NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 214 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AATGAGCATTCAGGACAGCCT 0.517 17 101 --- --- --- --- PASS RNF168 165918 broad.mit.edu 37 3 196198983 196198983 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr3:196198983G>C uc003fwq.2 - 6 1961 c.1423C>G c.(1423-1425)CAC>GAC p.H475D RNF168_uc010iah.2_Missense_Mutation_p.H308D|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 475 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) GCGCGTAAGTGATACTCATCT 0.458 77 604 --- --- --- --- PASS MRPL1 65008 broad.mit.edu 37 4 78870971 78870971 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr4:78870971G>C uc003hku.2 + 8 996 c.798G>C c.(796-798)CAG>CAC p.Q266H MRPL1_uc010iji.1_Intron NM_020236 NP_064621 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 precursor 266 RNA binding 0 CAAGTGACCAGATAGCTGCCA 0.358 3 136 --- --- --- --- PASS PPP3CA 5530 broad.mit.edu 37 4 102019574 102019574 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr4:102019574C>A uc011cen.1 - 5 1267 c.592G>T c.(592-594)GTG>TTG p.V198L PPP3CA_uc003hvu.2_Missense_Mutation_p.V198L|PPP3CA_uc010ilj.2_Missense_Mutation_p.V198L|PPP3CA_uc003hvt.2_Missense_Mutation_p.V185L|PPP3CA_uc003hvs.2_Missense_Mutation_p.V131L|PPP3CA_uc010ilk.2_Intron NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha 198 Catalytic. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) CCACCATGCACACACAGGAAC 0.393 24 92 --- --- --- --- PASS CCRN4L 25819 broad.mit.edu 37 4 139966110 139966110 + Silent SNP T C C rs140314273 TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr4:139966110T>C uc003ihl.2 + 3 971 c.778T>C c.(778-780)TTG>CTG p.L260L NM_012118 NP_036250 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like 260 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_hematologic(180;0.162) AGCCATGACATTGAAAACCAA 0.478 18 65 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162307103 162307103 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr4:162307103C>G uc003iqh.2 - 16 2776 c.2340G>C c.(2338-2340)AAG>AAC p.K780N FSTL5_uc003iqi.2_Missense_Mutation_p.K779N|FSTL5_uc010iqv.2_Missense_Mutation_p.K770N|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 780 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCTTGAGACTCTTTATCATCT 0.458 42 169 --- --- --- --- PASS SPATA4 132851 broad.mit.edu 37 4 177116539 177116539 + Missense_Mutation SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr4:177116539G>T uc003iuo.1 - 1 284 c.175C>A c.(175-177)CTT>ATT p.L59I NM_144644 NP_653245 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 59 apoptosis|spermatogenesis 0 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) AGACCCTGAAGCCAACGCAGA 0.622 15 111 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7709351 7709351 + Missense_Mutation SNP T C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:7709351T>C uc003jdz.1 + 10 1496 c.1429T>C c.(1429-1431)TTC>CTC p.F477L ADCY2_uc011cmo.1_Missense_Mutation_p.F297L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 477 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CCAGCATCTCTTCAGACCTCG 0.592 19 108 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7709429 7709429 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:7709429G>A uc003jdz.1 + 10 1574 c.1507G>A c.(1507-1509)GCA>ACA p.A503T ADCY2_uc011cmo.1_Missense_Mutation_p.A323T NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 503 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GTCCTGGGGGGCAGCCAAGCC 0.607 10 75 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9063029 9063029 + Missense_Mutation SNP A G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:9063029A>G uc003jek.2 - 18 3200 c.2488T>C c.(2488-2490)TAC>CAC p.Y830H NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 830 TSP type-1 5.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CATTCCTGGTATTCCAGAGAT 0.512 4 134 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21802373 21802373 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:21802373G>C uc010iuc.2 - 7 1617 c.1159C>G c.(1159-1161)CCG>GCG p.P387A CDH12_uc011cno.1_Missense_Mutation_p.P347A|CDH12_uc003jgk.2_Missense_Mutation_p.P387A NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 387 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GTGTAGAGCGGCTTGCTGAAA 0.552 HNSCC(59;0.17) 40 41 --- --- --- --- PASS GOLPH3 64083 broad.mit.edu 37 5 32143959 32143959 + Missense_Mutation SNP T C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:32143959T>C uc003jhp.1 - 2 538 c.253A>G c.(253-255)ATA>GTA p.I85V NM_022130 NP_071413 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 85 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding ovary(1) 1 CCAGATGATATACAGTCATTC 0.308 60 114 --- --- --- --- PASS PRR16 51334 broad.mit.edu 37 5 120021831 120021831 + Silent SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:120021831C>G uc003ksq.2 + 2 505 c.342C>G c.(340-342)CTC>CTG p.L114L PRR16_uc003ksp.2_Silent_p.L91L|PRR16_uc003ksr.2_Silent_p.L44L NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 114 Pro-rich. pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CTGCTATCCTCACGGTCCTGA 0.522 28 112 --- --- --- --- PASS PKD2L2 27039 broad.mit.edu 37 5 137271531 137271531 + Nonsense_Mutation SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:137271531G>T uc003lby.2 + 13 1773 c.1717G>T c.(1717-1719)GAG>TAG p.E573* PKD2L2_uc003lbw.1_Nonsense_Mutation_p.E573*|PKD2L2_uc003lbx.2_Nonsense_Mutation_p.E472*|PKD2L2_uc011cyi.1_Nonsense_Mutation_p.E181* NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 573 Cytoplasmic (Potential).|Potential. integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGAGAGGCTTGAGAAAAAGTA 0.383 7 56 --- --- --- --- PASS MATR3 9782 broad.mit.edu 37 5 138661310 138661310 + Missense_Mutation SNP A G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:138661310A>G uc003ldu.2 + 16 2757 c.2330A>G c.(2329-2331)GAT>GGT p.D777G MATR3_uc003ldt.2_Missense_Mutation_p.D439G|MATR3_uc003ldw.2_Missense_Mutation_p.D825G|MATR3_uc003ldx.2_Missense_Mutation_p.D777G|MATR3_uc010jfc.2_Missense_Mutation_p.D777G|MATR3_uc011czb.1_Missense_Mutation_p.D489G|MATR3_uc003ldz.2_Missense_Mutation_p.D777G|MATR3_uc003lea.2_Missense_Mutation_p.D777G|MATR3_uc003leb.2_Missense_Mutation_p.D439G|MATR3_uc003lec.2_Missense_Mutation_p.D454G NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 777 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACAATCCCAGATGAGTATAGA 0.418 20 47 --- --- --- --- PASS PAIP2 51247 broad.mit.edu 37 5 138704469 138704469 + Silent SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:138704469G>T uc003led.2 + 4 543 c.366G>T c.(364-366)GTG>GTT p.V122V PAIP2_uc003lee.2_Silent_p.V122V|PAIP2_uc003lef.2_Silent_p.V122V|SLC23A1_uc003leh.2_Intron|SLC23A1_uc003leg.2_Intron NM_016480 NP_057564 Q9BPZ3 PAIP2_HUMAN poly(A) binding protein interacting protein 2 122 negative regulation of translational initiation cytoplasm protein binding|translation repressor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTCCTGGGGTGAAGTACGGAA 0.393 18 113 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140594887 140594887 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:140594887G>A uc003lja.1 + 1 1379 c.1192G>A c.(1192-1194)GAA>AAA p.E398K NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 398 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAATCCGCGGAAAACTTTTA 0.453 22 89 --- --- --- --- PASS HAVCR2 84868 broad.mit.edu 37 5 156514243 156514243 + Missense_Mutation SNP C A A rs138681649 TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr5:156514243C>A uc003lwk.1 - 7 920 c.776G>T c.(775-777)CGC>CTC p.R259L NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 259 Cytoplasmic (Potential). integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCTTCTGAGCGAATTCCCTC 0.458 11 59 --- --- --- --- PASS DTNBP1 84062 broad.mit.edu 37 6 15627683 15627683 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:15627683C>T uc003nbm.2 - 5 417 c.246G>A c.(244-246)ATG>ATA p.M82I DTNBP1_uc003nbl.2_Missense_Mutation_p.M1I|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.M82I|DTNBP1_uc010jph.2_Missense_Mutation_p.M69I NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 isoform a 82 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding 0 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) GCGCAGAAAGCATGACCACCT 0.488 Hermansky-Pudlak_syndrome 12 76 --- --- --- --- PASS HIST1H2BH 8345 broad.mit.edu 37 6 26252107 26252107 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:26252107G>A uc003nhh.2 + 1 229 c.229G>A c.(229-231)GAG>AAG p.E77K HIST1H3F_uc003nhg.1_5'Flank NM_003524 NP_003515 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 77 nucleosome assembly nucleosome|nucleus DNA binding ovary(3) 3 CATCGCCGGCGAGGCTTCCCG 0.592 8 197 --- --- --- --- PASS HIST1H2BK 85236 broad.mit.edu 37 6 27114419 27114419 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:27114419G>A uc003nix.1 - 1 201 c.159C>T c.(157-159)ACC>ACT p.T53T HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080593 NP_542160 O60814 H2B1K_HUMAN histone cluster 1, H2bk 53 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 AGGAGATGCCGGTGTCGGGGT 0.577 47 282 --- --- --- --- PASS ZNF184 7738 broad.mit.edu 37 6 27420015 27420015 + Silent SNP A T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:27420015A>T uc003njj.2 - 5 2134 c.1323T>A c.(1321-1323)ACT>ACA p.T441T ZNF184_uc010jqv.2_Silent_p.T441T|ZNF184_uc003nji.2_Silent_p.T441T NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTTTCTCCCCAGTATGAGTTT 0.403 37 194 --- --- --- --- PASS MDC1 9656 broad.mit.edu 37 6 30671677 30671677 + Silent SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:30671677C>T uc003nrg.3 - 10 5723 c.5283G>A c.(5281-5283)GTG>GTA p.V1761V MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.V1368V NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1761 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CAGCTGCTCTCACTGCTCCCC 0.557 Other_conserved_DNA_damage_response_genes 6 107 --- --- --- --- PASS PBX2 5089 broad.mit.edu 37 6 32155509 32155509 + Missense_Mutation SNP T A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:32155509T>A uc003oav.1 - 5 1056 c.785A>T c.(784-786)TAT>TTT p.Y262F PBX2_uc003oaw.2_Missense_Mutation_p.Y262F NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 262 Homeobox; TALE-type. transcription factor binding ovary(1) 1 GGAGTAGAAATACTCATTTAG 0.517 4 24 --- --- --- --- PASS HLA-DRA 3122 broad.mit.edu 37 6 32410335 32410335 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:32410335G>A uc003obh.2 + 2 274 c.193G>A c.(193-195)GAG>AAG p.E65K HLA-DRA_uc003obi.2_Missense_Mutation_p.E65K NM_019111 NP_061984 P01903 DRA_HUMAN major histocompatibility complex, class II, DR 65 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity ovary(1)|skin(1) 2 GGCAAAGAAGGAGACGGTCTG 0.468 T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of 32 146 --- --- --- --- PASS SYNGAP1 8831 broad.mit.edu 37 6 33405597 33405597 + Silent SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:33405597C>A uc011dri.1 + 8 1110 c.915C>A c.(913-915)ACC>ACA p.T305T SYNGAP1_uc003oeo.1_Silent_p.T290T|SYNGAP1_uc010juy.2_Silent_p.T290T|SYNGAP1_uc010juz.2_Silent_p.T17T NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 305 C2. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 CTGGGGACACCGTCTTCTGGG 0.602 3 95 --- --- --- --- PASS KCNK17 89822 broad.mit.edu 37 6 39271753 39271753 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:39271753C>A uc003ooo.2 - 4 808 c.668G>T c.(667-669)GGC>GTC p.G223V KCNK17_uc003oop.2_Missense_Mutation_p.G223V NM_031460 NP_113648 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 223 integral to membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 GTCGCCGAAGCCCACGGTGCT 0.617 18 128 --- --- --- --- PASS MOCS1 4337 broad.mit.edu 37 6 39874531 39874531 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:39874531C>A uc003opb.2 - 10 1651 c.1513G>T c.(1513-1515)GTG>TTG p.V505L MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Missense_Mutation_p.V489L|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Missense_Mutation_p.V402L NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 505 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) GCCACAGCCACCCGCTCTGTG 0.592 3 78 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 70942343 70942343 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:70942343G>C uc003pfg.3 - 36 2605 c.2446C>G c.(2446-2448)CGT>GGT p.R816G COL9A1_uc003pfe.3_Missense_Mutation_p.R365G|COL9A1_uc003pff.3_Missense_Mutation_p.R573G NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 816 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 GGAAGGCCACGAATTCCCATC 0.592 33 209 --- --- --- --- PASS SESN1 27244 broad.mit.edu 37 6 109322510 109322510 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:109322510C>A uc003pst.3 - 3 442 c.350G>T c.(349-351)CGT>CTT p.R117L SESN1_uc003psu.2_Missense_Mutation_p.R176L NM_014454 NP_055269 Q9Y6P5 SESN1_HUMAN sestrin 1 117 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus ovary(1) 1 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) AATGTAGTGACGATAATGTAG 0.333 18 117 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165808737 165808737 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr6:165808737C>A uc003qun.2 - 16 1649 c.1408G>T c.(1408-1410)GGT>TGT p.G470C PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.G400C|PDE10A_uc003quo.2_Missense_Mutation_p.G480C NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 470 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TCAAAAGGACCAATGTCAAAG 0.333 7 56 --- --- --- --- PASS EIF3B 8662 broad.mit.edu 37 7 2402315 2402315 + Missense_Mutation SNP C A A rs150739455 TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr7:2402315C>A uc003slx.2 + 3 811 c.728C>A c.(727-729)GCT>GAT p.A243D EIF3B_uc003sly.2_Missense_Mutation_p.A243D|EIF3B_uc003slz.1_Missense_Mutation_p.A204D|EIF3B_uc003sma.2_Translation_Start_Site NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 243 Sufficient for interaction with EIF3E.|RRM.|Sufficient for interaction with EIF3J. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CCTGCCCACgctgtggatgct 0.408 4 76 --- --- --- --- PASS TTYH3 80727 broad.mit.edu 37 7 2701348 2701348 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr7:2701348G>A uc003smp.2 + 14 1734 c.1547G>A c.(1546-1548)CGC>CAC p.R516H TTYH3_uc010ksn.2_Missense_Mutation_p.R236H|TTYH3_uc003smq.2_Missense_Mutation_p.R345H NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 516 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) AGCCAGCCTCGCCCTGACTCC 0.692 3 13 --- --- --- --- PASS SAMD9 54809 broad.mit.edu 37 7 92731019 92731019 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr7:92731019G>C uc003umf.2 - 3 4648 c.4392C>G c.(4390-4392)TTC>TTG p.F1464L SAMD9_uc003umg.2_Missense_Mutation_p.F1464L NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1464 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ATTGCCCCTTGAAAGAATTTT 0.343 35 200 --- --- --- --- PASS LAMB1 3912 broad.mit.edu 37 7 107599767 107599767 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr7:107599767C>A uc003vew.2 - 20 2952 c.2617G>T c.(2617-2619)GCC>TCC p.A873S LAMB1_uc003vev.2_Missense_Mutation_p.A897S NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 873 Laminin EGF-like 8. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGTCATCGGCGTGGCCATTG 0.557 41 203 --- --- --- --- PASS LAMB1 3912 broad.mit.edu 37 7 107615434 107615434 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr7:107615434G>A uc003vew.2 - 12 1814 c.1479C>T c.(1477-1479)TGC>TGT p.C493C LAMB1_uc003vev.2_Silent_p.C517C|LAMB1_uc003vex.2_Silent_p.C493C|LAMB1_uc010ljn.1_Silent_p.C579C NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 493 Laminin EGF-like 4. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACTTACCAGGCACTGGTCAC 0.498 27 114 --- --- --- --- PASS LMOD2 442721 broad.mit.edu 37 7 123302662 123302662 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr7:123302662G>C uc003vky.2 + 2 1179 c.1022G>C c.(1021-1023)AGA>ACA p.R341T NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 341 cytoskeleton actin binding|tropomyosin binding 0 CCAGGACCAAGAATGAGCATG 0.483 5 183 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131853158 131853158 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr7:131853158C>G uc003vra.3 - 22 4420 c.4191G>C c.(4189-4191)AAG>AAC p.K1397N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1397 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CGTACTCCAGCTTGCTCTGCA 0.587 13 43 --- --- --- --- PASS MKRN1 23608 broad.mit.edu 37 7 140154376 140154376 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr7:140154376C>T uc003vvt.2 - 8 1615 c.1390G>A c.(1390-1392)GAA>AAA p.E464K MKRN1_uc003vvs.2_Missense_Mutation_p.E400K|MKRN1_uc011krd.1_Missense_Mutation_p.E198K NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 464 ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) CACTCATCTTCAGAGTCTGTT 0.488 12 65 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151960110 151960110 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr7:151960110C>G uc003wla.2 - 9 1509 c.1290G>C c.(1288-1290)TGG>TGC p.W430C NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 430 PHD-type 2. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CTTTGCATTTCCAGCCATTGG 0.348 N medulloblastoma 37 159 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2796131 2796131 + Silent SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr8:2796131C>T uc011kwk.1 - 70 11064 c.10674G>A c.(10672-10674)CTG>CTA p.L3558L CSMD1_uc011kwj.1_Silent_p.L2872L|CSMD1_uc010lrg.2_Silent_p.L1449L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3558 Cytoplasmic (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGACTGTGTTCAGAGTTGTGT 0.458 5 40 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2830790 2830790 + Silent SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr8:2830790C>G uc011kwk.1 - 57 9165 c.8775G>C c.(8773-8775)GGG>GGC p.G2925G CSMD1_uc011kwj.1_Silent_p.G2254G|CSMD1_uc010lrg.2_Silent_p.G935G NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2925 Extracellular (Potential).|Sushi 22. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTGCTGGGGTCCCCGGATCAC 0.483 48 279 --- --- --- --- PASS XKR5 389610 broad.mit.edu 37 8 6690416 6690416 + Missense_Mutation SNP T A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr8:6690416T>A uc003wqp.2 - 2 87 c.65A>T c.(64-66)TAC>TTC p.Y22F XKR5_uc003wqq.2_5'UTR|XKR5_uc003wqr.1_RNA NM_207411 NP_997294 Q6UX68 XKR5_HUMAN XK-related protein 5a 22 integral to membrane 0 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCACGGTGTAAAGGCCTGG 0.532 12 15 --- --- --- --- PASS GPR124 25960 broad.mit.edu 37 8 37686463 37686463 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr8:37686463G>A uc003xkj.2 + 3 759 c.396G>A c.(394-396)GGG>GGA p.G132G GPR124_uc003xki.2_Silent_p.G132G|GPR124_uc010lvy.2_Silent_p.G132G NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 132 Extracellular (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGGGCCTGGGGGAGCTGAAGC 0.667 6 66 --- --- --- --- PASS STAR 6770 broad.mit.edu 37 8 38005810 38005810 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr8:38005810C>T uc003xkv.1 - 3 478 c.214G>A c.(214-216)GAG>AAG p.E72K STAR_uc010lwc.1_Missense_Mutation_p.E34K NM_001007243 NP_001007244 P49675 STAR_HUMAN steroidogenic acute regulatory protein isoform 72 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) TAGGCCAGCTCCTGGTCACTG 0.572 9 26 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765105 77765105 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr8:77765105G>A uc003yav.2 + 10 6200 c.5813G>A c.(5812-5814)CGT>CAT p.R1938H ZFHX4_uc003yau.1_Missense_Mutation_p.R1983H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1938H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1938 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) AAATTTGCTCGTCAATACAGG 0.299 HNSCC(33;0.089) 21 41 --- --- --- --- PASS RNF19A 25897 broad.mit.edu 37 8 101287334 101287334 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr8:101287334C>G uc003yjj.1 - 4 1047 c.730G>C c.(730-732)GAG>CAG p.E244Q RNF19A_uc003yjk.1_Missense_Mutation_p.E244Q NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 244 IBR-type. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CCACAGCCCTCTCGCCCACAA 0.433 22 141 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113697923 113697923 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr8:113697923C>G uc003ynu.2 - 15 2353 c.2194G>C c.(2194-2196)GTT>CTT p.V732L CSMD3_uc003yns.2_Missense_Mutation_p.V4L|CSMD3_uc003ynt.2_Missense_Mutation_p.V692L|CSMD3_uc011lhx.1_Missense_Mutation_p.V628L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 732 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGAGAAAGAACTGTTCCCATT 0.353 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 68 147 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8485848 8485848 + Missense_Mutation SNP T A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr9:8485848T>A uc003zkk.2 - 27 3680 c.2969A>T c.(2968-2970)TAC>TTC p.Y990F PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.Y981F|PTPRD_uc003zkm.2_Missense_Mutation_p.Y977F|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 990 Fibronectin type-III 7.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTTTACATCGTATGTGGTATC 0.488 TSP Lung(15;0.13) 12 71 --- --- --- --- PASS SPINK4 27290 broad.mit.edu 37 9 33246680 33246680 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr9:33246680G>C uc003zsh.2 + 3 180 c.169G>C c.(169-171)GAT>CAT p.D57H SUGT1P1_uc010mjq.1_Intron NM_014471 NP_055286 O60575 ISK4_HUMAN serine peptidase inhibitor, Kazal type 4 57 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity 0 LUSC - Lung squamous cell carcinoma(29;0.00506) CTGCGGCACTGATGGGCTCAC 0.572 33 262 --- --- --- --- PASS FRMPD1 22844 broad.mit.edu 37 9 37746211 37746211 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr9:37746211G>A uc004aag.1 + 16 4226 c.4182G>A c.(4180-4182)TCG>TCA p.S1394S FRMPD1_uc004aah.1_Silent_p.S1394S NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1394 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CACCCCTGTCGAGGAAAAGCC 0.657 6 70 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 9 84675878 84675878 + Nonstop_Mutation SNP A T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr9:84675878A>T uc010mpu.1 - 3 550 c.547T>A c.(547-549)TGA>AGA p.*183R NM_001164339 NP_001157811 hypothetical protein LOC404770 TGGAGTTATCAGAGTGGAGTC 0.562 69 284 --- --- --- --- PASS OR2K2 26248 broad.mit.edu 37 9 114089856 114089856 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr9:114089856G>A uc011lwp.1 - 1 858 c.858C>T c.(856-858)CCC>CCT p.P286P NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, 315 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGTAAATTATGGGGTTCAACA 0.388 34 129 --- --- --- --- PASS C10orf18 54906 broad.mit.edu 37 10 5772786 5772786 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr10:5772786C>G uc001iij.2 + 11 1449 c.824C>G c.(823-825)TCT>TGT p.S275C C10orf18_uc001iik.2_5'UTR NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 275 ovary(1)|central_nervous_system(1) 2 TTGGAAGTGTCTACTGCTTTG 0.423 26 587 --- --- --- --- PASS DHTKD1 55526 broad.mit.edu 37 10 12142178 12142178 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr10:12142178C>G uc001ild.3 + 9 1772 c.1673C>G c.(1672-1674)TCC>TGC p.S558C NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 558 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) ATTTTACAGTCCAGAATGGAG 0.353 44 319 --- --- --- --- PASS PHYH 5264 broad.mit.edu 37 10 13330464 13330464 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr10:13330464C>T uc001imf.2 - 6 662 c.574G>A c.(574-576)GCC>ACC p.A192T PHYH_uc001ime.2_Missense_Mutation_p.A92T|PHYH_uc001img.2_Missense_Mutation_p.A175T NM_006214 NP_006205 O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase isoform a precursor 192 A -> AA (in RD). fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding 0 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) GCCGTCCAGGCGCAAACGATG 0.582 31 125 --- --- --- --- PASS WAC 51322 broad.mit.edu 37 10 28900789 28900789 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr10:28900789C>G uc001iuf.2 + 10 1460 c.1375C>G c.(1375-1377)CAA>GAA p.Q459E WAC_uc001iud.2_Missense_Mutation_p.Q414E|WAC_uc001iue.2_Missense_Mutation_p.Q149E|WAC_uc001iug.2_Missense_Mutation_p.Q356E|WAC_uc001iuh.2_Missense_Mutation_p.Q411E NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 459 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 AAGCACACCTCAAACTAACAC 0.433 20 282 --- --- --- --- PASS RGR 5995 broad.mit.edu 37 10 86017684 86017684 + Silent SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr10:86017684C>A uc001kdc.1 + 6 704 c.666C>A c.(664-666)CTC>CTA p.L222L RGR_uc001kdd.1_Silent_p.L226L|RGR_uc001kde.1_Intron NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 222 Helical; Name=6; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 CGCTGCTGCTCGGCTGGGGCC 0.547 30 80 --- --- --- --- PASS C10orf79 80217 broad.mit.edu 37 10 105906076 105906076 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr10:105906076C>G uc001kxw.2 - 30 3916 c.3800G>C c.(3799-3801)AGA>ACA p.R1267T C10orf79_uc009xxq.2_Intron NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1267 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) CAGGTCTTCTCTAGATTTCCG 0.413 10 184 --- --- --- --- PASS TPH1 7166 broad.mit.edu 37 11 18062260 18062260 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:18062260C>G uc001mnp.2 - 1 76 c.50G>C c.(49-51)AGA>ACA p.R17T TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 17 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) GAGACTTGCTCTTCCCCTTTC 0.333 22 70 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 20869208 20869208 + Missense_Mutation SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:20869208G>T uc001mqe.2 + 4 568 c.415G>T c.(415-417)GCA>TCA p.A139S NELL1_uc001mqf.2_Missense_Mutation_p.A139S|NELL1_uc009yid.2_Missense_Mutation_p.A167S|NELL1_uc010rdo.1_Intron|NELL1_uc010rdp.1_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 139 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 AAGGACAGAGGCACTTCCTTA 0.478 10 51 --- --- --- --- PASS ZNF408 79797 broad.mit.edu 37 11 46726988 46726988 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:46726988C>T uc001nde.1 + 5 1968 c.1738C>T c.(1738-1740)CCC>TCC p.P580S ZNF408_uc010rgw.1_Missense_Mutation_p.P572S NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN zinc finger protein 408 580 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding 0 GAGGCCCTTTCCCTGTCCCCA 0.672 11 54 --- --- --- --- PASS CKAP5 9793 broad.mit.edu 37 11 46832582 46832582 + Missense_Mutation SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:46832582G>T uc001ndi.1 - 5 715 c.605C>A c.(604-606)CCA>CAA p.P202Q CKAP5_uc009ylg.1_Missense_Mutation_p.P88Q|CKAP5_uc001ndj.1_Missense_Mutation_p.P202Q NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 202 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 ATTTTGTAATGGGGGTCTCAG 0.388 33 149 --- --- --- --- PASS OR5AR1 219493 broad.mit.edu 37 11 56431560 56431560 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:56431560C>A uc010rjm.1 + 1 399 c.399C>A c.(397-399)AGC>AGA p.S133R NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCACTATAGCACCTTCATGT 0.512 59 338 --- --- --- --- PASS ZDHHC5 25921 broad.mit.edu 37 11 57464264 57464264 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:57464264G>A uc001nkx.1 + 10 2297 c.1041G>A c.(1039-1041)CCG>CCA p.P347P ZDHHC5_uc001nky.1_Silent_p.P294P|ZDHHC5_uc001nkz.1_Silent_p.P161P NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC domain containing 5 347 integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 ACAGCCCCCCGACACCTACCA 0.458 15 69 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58206915 58206915 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:58206915G>C uc010rkh.1 - 1 710 c.710C>G c.(709-711)TCT>TGT p.S237C NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 237 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGCACAAGTAGAAAAGGCCTT 0.418 5 120 --- --- --- --- PASS SLC22A10 387775 broad.mit.edu 37 11 63058004 63058004 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:63058004G>A uc009yor.2 + 1 575 c.367G>A c.(367-369)GAT>AAT p.D123N SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.D71N NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 123 Extracellular (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 CTGGGTATATGATCAAAGCTA 0.468 5 130 --- --- --- --- PASS FAM86C 55199 broad.mit.edu 37 11 71500881 71500881 + Missense_Mutation SNP T C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:71500881T>C uc001oqv.3 + 2 175 c.149T>C c.(148-150)ATT>ACT p.I50T FAM86C_uc009ysr.2_Missense_Mutation_p.I50T|FAM86C_uc001oqw.3_Missense_Mutation_p.I50T|FAM86C_uc009yss.2_RNA|FAM86C_uc010rqq.1_RNA NM_018172 NP_060642 Q9NVL1 FA86C_HUMAN hypothetical protein LOC55199 isoform 1 50 0 CTGCGGGATATTTTGCAGAAG 0.493 16 114 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92533601 92533601 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:92533601G>A uc001pdj.3 + 9 7439 c.7422G>A c.(7420-7422)GGG>GGA p.G2474G NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2474 Cadherin 22.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCTCTGATGGGTTGTTCACCA 0.498 TCGA Ovarian(4;0.039) 30 97 --- --- --- --- PASS BCO2 83875 broad.mit.edu 37 11 112065424 112065424 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:112065424C>T uc001pnf.2 + 5 799 c.682C>T c.(682-684)CAT>TAT p.H228Y BCO2_uc001pne.1_Missense_Mutation_p.H55Y|BCO2_uc001png.2_Intron|BCO2_uc001pnh.2_Missense_Mutation_p.H194Y|BCO2_uc010rwt.1_Missense_Mutation_p.H123Y|BCO2_uc009yyn.2_Missense_Mutation_p.H194Y|BCO2_uc001pni.2_Missense_Mutation_p.H194Y NM_031938 NP_114144 Q9BYV7 BCDO2_HUMAN beta-carotene dioxygenase 2 isoform a 228 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TGCACATCCTCATTATGACCT 0.398 39 160 --- --- --- --- PASS NFRKB 4798 broad.mit.edu 37 11 129758544 129758544 + Missense_Mutation SNP A C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:129758544A>C uc001qfi.2 - 4 483 c.282T>G c.(280-282)AGT>AGG p.S94R NFRKB_uc001qfg.2_Missense_Mutation_p.S107R|NFRKB_uc001qfh.2_Missense_Mutation_p.S117R|NFRKB_uc010sbw.1_Missense_Mutation_p.S94R NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 94 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) AGTTCTCCCCACTGAACAAGG 0.498 28 159 --- --- --- --- PASS OPCML 4978 broad.mit.edu 37 11 132307140 132307140 + Silent SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr11:132307140G>T uc001qgs.2 - 4 690 c.640C>A c.(640-642)CGG>AGG p.R214R OPCML_uc001qgu.2_Silent_p.R207R|OPCML_uc010sck.1_Silent_p.R214R|OPCML_uc001qgt.2_Silent_p.R213R|OPCML_uc010scl.1_Silent_p.R173R NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 214 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TTTACTTTCCGCACATCGGGC 0.537 22 188 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 475139 475139 + Silent SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr12:475139G>C uc001qif.1 - 4 861 c.498C>G c.(496-498)CTC>CTG p.L166L KDM5A_uc001qie.1_Silent_p.L166L|KDM5A_uc010sdn.1_Silent_p.L125L|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 166 ARID. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 CATATGGGTAGAGAATTCTTT 0.393 T NUP98 AML 80 395 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 475168 475168 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr12:475168G>C uc001qif.1 - 4 832 c.469C>G c.(469-471)CTT>GTT p.L157V KDM5A_uc001qie.1_Missense_Mutation_p.L157V|KDM5A_uc010sdn.1_Missense_Mutation_p.L116V|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 157 ARID. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 GACTTCAAAAGAGACCCAGTT 0.408 T NUP98 AML 99 515 --- --- --- --- PASS PLCZ1 89869 broad.mit.edu 37 12 18841147 18841147 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr12:18841147G>A uc010sid.1 - 13 1658 c.1467C>T c.(1465-1467)ATC>ATT p.I489I PLCZ1_uc001rdv.3_Silent_p.I385I|PLCZ1_uc001rdw.3_Silent_p.I230I|PLCZ1_uc001rdu.1_Silent_p.I271I|PLCZ1_uc009zil.1_RNA NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 489 C2. I -> T (in Ref. 2; AAK61372). intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GGATACCACTGATGAGCTGCA 0.294 42 209 --- --- --- --- PASS H1FNT 341567 broad.mit.edu 37 12 48723703 48723703 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr12:48723703C>A uc001rrm.2 + 1 941 c.629C>A c.(628-630)GCG>GAG p.A210E NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 210 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding pancreas(1) 1 GAAGCGGGAGCGACAGCGGCA 0.662 7 9 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39266156 39266156 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr13:39266156G>A uc001uwv.2 + 1 4984 c.4675G>A c.(4675-4677)GAA>AAA p.E1559K NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1559 Extracellular (Potential).|CSPG 11. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCTCACTGTCGAAGACAGAGA 0.443 39 122 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77657221 77657221 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr13:77657221G>A uc001vkf.2 - 64 10959 c.10868C>T c.(10867-10869)TCA>TTA p.S3623L MYCBP2_uc010aev.2_Missense_Mutation_p.S3027L|MYCBP2_uc001vke.2_Missense_Mutation_p.S243L NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3623 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CATAAGGTCTGAGATGGTCTG 0.473 43 116 --- --- --- --- PASS RNF219 79596 broad.mit.edu 37 13 79213126 79213126 + Silent SNP A G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr13:79213126A>G uc001vkw.1 - 4 440 c.381T>C c.(379-381)ATT>ATC p.I127I RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.I127I NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 127 Potential. zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) AAGGATCCAGAATAGTTTTGA 0.373 61 188 --- --- --- --- PASS KLHL28 54813 broad.mit.edu 37 14 45400541 45400541 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr14:45400541C>G uc001wvq.2 - 4 1793 c.1547G>C c.(1546-1548)AGA>ACA p.R516T KLHL28_uc001wvr.2_Missense_Mutation_p.R516T NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 516 Kelch 5. ovary(1) 1 ATTACCTGTTCTAGGTTCTTT 0.358 13 61 --- --- --- --- PASS FANCM 57697 broad.mit.edu 37 14 45645812 45645812 + Silent SNP T C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr14:45645812T>C uc001wwd.3 + 14 3954 c.3855T>C c.(3853-3855)CAT>CAC p.H1285H FANCM_uc010anf.2_Silent_p.H1259H|FANCM_uc001wwe.3_Silent_p.H821H|FANCM_uc010ang.2_Silent_p.H499H NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1285 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 CAAGAGATCATAGTAAAAATT 0.328 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 25 107 --- --- --- --- PASS KLHDC2 23588 broad.mit.edu 37 14 50247037 50247037 + Silent SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr14:50247037C>T uc001wwx.2 + 9 1280 c.880C>T c.(880-882)CTA>TTA p.L294L SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Silent_p.L294L|KLHDC2_uc010anp.2_Silent_p.L294L NM_014315 NP_055130 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 294 Kelch 5. nucleus protein binding ovary(1) 1 all_epithelial(31;0.000959)|Breast(41;0.0117) TAAACAGCCACTAAGTAAGTC 0.368 29 92 --- --- --- --- PASS DCAF5 8816 broad.mit.edu 37 14 69521476 69521476 + Nonsense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr14:69521476G>A uc001xkp.2 - 9 2146 c.1927C>T c.(1927-1929)CAA>TAA p.Q643* DCAF5_uc001xkq.2_Nonsense_Mutation_p.Q642* NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 643 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 CGGCTTGGTTGAATCTCTAGC 0.473 10 135 --- --- --- --- PASS SPATA7 55812 broad.mit.edu 37 14 88883116 88883116 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr14:88883116C>G uc001xwq.2 + 5 451 c.300C>G c.(298-300)TTC>TTG p.F100L SPATA7_uc001xwr.2_Missense_Mutation_p.F68L|SPATA7_uc001xws.2_Missense_Mutation_p.F36L|SPATA7_uc001xwt.2_5'UTR NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 100 response to stimulus|visual perception ovary(1) 1 AAAAAGAGTTCAAATTAACTA 0.279 5 92 --- --- --- --- PASS CATSPERB 79820 broad.mit.edu 37 14 92091277 92091277 + Missense_Mutation SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr14:92091277G>T uc001xzs.1 - 18 1957 c.1817C>A c.(1816-1818)GCA>GAA p.A606E CATSPERB_uc010aub.1_Missense_Mutation_p.A128E NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 606 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTTCATTTCTGCAATAACTGA 0.343 19 113 --- --- --- --- PASS SERPINA11 256394 broad.mit.edu 37 14 94914713 94914713 + Silent SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr14:94914713G>C uc001ydd.1 - 2 459 c.399C>G c.(397-399)CTC>CTG p.L133L NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 133 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) CTTTTAGTTCGAGTTTGGGGC 0.537 52 264 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25947152 25947152 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr15:25947152C>T uc010ayu.2 - 13 2777 c.2671G>A c.(2671-2673)GAC>AAC p.D891N NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 891 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCTTGTTTGTCACCAGTGAGA 0.532 6 236 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34034598 34034598 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr15:34034598G>A uc001zhi.2 + 52 7922 c.7852G>A c.(7852-7854)GTC>ATC p.V2618I RYR3_uc010bar.2_Missense_Mutation_p.V2618I NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2618 3.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAATACATCGTCACCAAGTA 0.413 11 67 --- --- --- --- PASS SLC12A6 9990 broad.mit.edu 37 15 34551037 34551037 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr15:34551037C>T uc001zhw.2 - 4 684 c.520G>A c.(520-522)GAA>AAA p.E174K SLC12A6_uc001zhv.2_Missense_Mutation_p.E123K|SLC12A6_uc001zhx.2_Missense_Mutation_p.E159K|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.E115K|SLC12A6_uc001zib.2_Missense_Mutation_p.E165K|SLC12A6_uc001zic.2_Missense_Mutation_p.E174K|SLC12A6_uc010bau.2_Missense_Mutation_p.E174K|SLC12A6_uc001zid.2_Missense_Mutation_p.E115K|SLC12A6_uc001zhu.2_Missense_Mutation_p.E35K NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 174 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TTTTTCCCTTCAGTGATGTTT 0.453 65 375 --- --- --- --- PASS C15orf52 388115 broad.mit.edu 37 15 40627419 40627419 + Silent SNP C G G rs144372797 TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr15:40627419C>G uc001zlh.3 - 11 1561 c.1545G>C c.(1543-1545)TCG>TCC p.S515S C15orf52_uc010ucn.1_Silent_p.S305S NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 515 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CTGTGCCTCTCGACCTTTGGC 0.692 76 343 --- --- --- --- PASS GATM 2628 broad.mit.edu 37 15 45658353 45658353 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr15:45658353C>T uc001zvc.2 - 6 1198 c.869G>A c.(868-870)AGA>AAA p.R290K GATM_uc001zvb.2_Missense_Mutation_p.R161K|GATM_uc010uev.1_Missense_Mutation_p.R343K NM_001482 NP_001473 P50440 GATM_HUMAN L-arginine:glycine amidinotransferase precursor 290 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding 0 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) GATATGCACTCTGTAGTCTGG 0.413 21 92 --- --- --- --- PASS AP4E1 23431 broad.mit.edu 37 15 51242119 51242119 + Silent SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr15:51242119G>C uc001zyx.1 + 12 1443 c.1413G>C c.(1411-1413)CTG>CTC p.L471L NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 471 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) ATAACTTTCTGAGACTACTAG 0.333 7 215 --- --- --- --- PASS HOMER2 9455 broad.mit.edu 37 15 83561500 83561500 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr15:83561500G>A uc002bjg.2 - 2 285 c.99C>T c.(97-99)ACC>ACT p.T33T HOMER2_uc002bjh.2_Silent_p.T33T|HOMER2_uc002bjj.2_Silent_p.T33T|HOMER2_uc002bji.2_Silent_p.T33T NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN homer 2 isoform 2 33 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane 0 AGTAGGAAACGGTGACCGCCT 0.522 50 237 --- --- --- --- PASS SV2B 9899 broad.mit.edu 37 15 91795168 91795168 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr15:91795168C>G uc002bqv.2 + 2 962 c.571C>G c.(571-573)CTC>GTC p.L191V SV2B_uc002bqt.2_Missense_Mutation_p.L191V|SV2B_uc010uqv.1_Missense_Mutation_p.L40V|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 191 Helical; (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) CTTCGCCTCCCTCTCTTCCTT 0.587 5 147 --- --- --- --- PASS NME4 4833 broad.mit.edu 37 16 450284 450284 + Missense_Mutation SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr16:450284G>T uc002cgz.2 + 5 537 c.506G>T c.(505-507)AGC>ATC p.S169I NME4_uc002cgy.2_Missense_Mutation_p.S99I|NME4_uc002cha.2_RNA|DECR2_uc002chb.2_5'Flank|DECR2_uc002chc.2_5'Flank|DECR2_uc010bqv.2_5'Flank|DECR2_uc002chd.2_5'Flank NM_005009 NP_005000 O00746 NDKM_HUMAN nucleoside diphosphate kinase 4 precursor 169 CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space ATP binding|metal ion binding|nucleoside diphosphate kinase activity 0 Hepatocellular(16;0.00015) TGGTTCCAGAGCAGTGAGCTG 0.652 13 103 --- --- --- --- PASS CHD9 80205 broad.mit.edu 37 16 53358634 53358634 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr16:53358634G>C uc002ehb.2 + 38 8685 c.8521G>C c.(8521-8523)GAA>CAA p.E2841Q CHD9_uc002egy.2_Missense_Mutation_p.E2825Q|CHD9_uc002ehc.2_Missense_Mutation_p.E2826Q|CHD9_uc002ehf.2_Missense_Mutation_p.E1939Q|CHD9_uc010cbw.2_Missense_Mutation_p.E907Q NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2841 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TAAGTCTGTAGAAGTAAAAGA 0.393 5 29 --- --- --- --- PASS NUP93 9688 broad.mit.edu 37 16 56878437 56878437 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr16:56878437G>A uc002eka.2 + 22 2497 c.2376G>A c.(2374-2376)CTG>CTA p.L792L NUP93_uc002ekb.2_Silent_p.L669L|NUP93_uc010vhi.1_Silent_p.L669L NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 792 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 CCCGCACTCTGATTACCTTTG 0.498 10 53 --- --- --- --- PASS PRMT7 54496 broad.mit.edu 37 16 68349904 68349904 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr16:68349904G>A uc002evy.1 + 3 298 c.22G>A c.(22-24)GCC>ACC p.A8T PRMT7_uc002evx.1_Missense_Mutation_p.A8T|PRMT7_uc010vlg.1_Missense_Mutation_p.A8T NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 8 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CTGCAGTCGGGCCAATCCGAC 0.532 3 44 --- --- --- --- PASS ZC3H18 124245 broad.mit.edu 37 16 88697587 88697587 + Silent SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr16:88697587C>A uc002fky.2 + 18 2942 c.2742C>A c.(2740-2742)GCC>GCA p.A914A ZC3H18_uc010voz.1_Silent_p.A938A|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Silent_p.A184A NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 914 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) ATCCCGGCGCCGCCAGCACCA 0.652 3 63 --- --- --- --- PASS MVD 4597 broad.mit.edu 37 16 88722562 88722562 + Missense_Mutation SNP T C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr16:88722562T>C uc002flg.1 - 5 561 c.554A>G c.(553-555)CAA>CGA p.Q185R MVD_uc002flf.1_Missense_Mutation_p.Q54R NM_002461 NP_002452 P53602 MVD1_HUMAN diphosphomevalonate decarboxylase 185 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0478) GGGGGCCACTTGCCGAGCGAT 0.687 21 82 --- --- --- --- PASS GP1BA 2811 broad.mit.edu 37 17 4836835 4836835 + Silent SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr17:4836835C>T uc010vsq.1 + 2 1011 c.936C>T c.(934-936)GTC>GTT p.V312V uc002fzn.1_RNA NM_000173 NP_000164 P07359 GP1BA_HUMAN platelet glycoprotein Ib alpha polypeptide 312 0 GGACTGTGGTCAAGTTCCCCA 0.537 23 129 --- --- --- --- PASS DHRS7C 201140 broad.mit.edu 37 17 9680518 9680518 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr17:9680518C>A uc010vvb.1 - 4 566 c.566G>T c.(565-567)CGT>CTT p.R189L DHRS7C_uc010cof.2_Missense_Mutation_p.R188L NM_001105571 NP_001099041 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 189 extracellular region binding|oxidoreductase activity 0 ACAAGTCGTACGGAACGGGAT 0.423 15 51 --- --- --- --- PASS KLHL10 317719 broad.mit.edu 37 17 39998268 39998268 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr17:39998268G>A uc010cxr.2 + 2 530 c.388G>A c.(388-390)GAG>AAG p.E130K KLHL10_uc010wfv.1_Missense_Mutation_p.E124K|KLHL10_uc010wfw.1_Missense_Mutation_p.E42K NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN kelch-like 10 130 cytoplasm ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 Breast(137;0.000162) GGGTTGCTGCGAGTTCCTCAA 0.507 5 145 --- --- --- --- PASS KLHL10 317719 broad.mit.edu 37 17 39998457 39998457 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr17:39998457G>C uc010cxr.2 + 2 719 c.577G>C c.(577-579)GAT>CAT p.D193H KLHL10_uc010wfv.1_Missense_Mutation_p.D187H|KLHL10_uc010wfw.1_Missense_Mutation_p.D105H NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN kelch-like 10 193 cytoplasm ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 Breast(137;0.000162) CATTGAGAAAGATGAGCTCAA 0.403 4 163 --- --- --- --- PASS KLHL10 317719 broad.mit.edu 37 17 40004407 40004407 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr17:40004407G>C uc010cxr.2 + 5 1817 c.1675G>C c.(1675-1677)GAC>CAC p.D559H KLHL10_uc010wfw.1_Missense_Mutation_p.D471H NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN kelch-like 10 559 Kelch 6. D -> G (in Ref. 2; BAB71387). cytoplasm ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 Breast(137;0.000162) TGATGCTCATGACATGAGTAT 0.473 6 155 --- --- --- --- PASS TTC25 83538 broad.mit.edu 37 17 40087031 40087031 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr17:40087031G>A uc002hyj.3 + 1 144 c.55G>A c.(55-57)GAA>AAA p.E19K TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.E19K NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 19 TPR 1. cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) TTATATGGCCGAAGGCGAGCG 0.542 5 17 --- --- --- --- PASS C17orf71 55181 broad.mit.edu 37 17 57289136 57289136 + Missense_Mutation SNP A G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr17:57289136A>G uc002ixi.2 + 1 1766 c.1724A>G c.(1723-1725)CAC>CGC p.H575R NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 575 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) ACTGATCAACACTGTGTGCAC 0.373 13 92 --- --- --- --- PASS AZI1 22994 broad.mit.edu 37 17 79176050 79176050 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr17:79176050C>T uc002jzp.1 - 7 978 c.778G>A c.(778-780)GAG>AAG p.E260K AZI1_uc002jzn.1_Missense_Mutation_p.E260K|AZI1_uc002jzo.1_Missense_Mutation_p.E260K|AZI1_uc010wum.1_Missense_Mutation_p.E260K NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 260 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CTCTCAGCCTCCTCCTCCGTC 0.662 4 88 --- --- --- --- PASS L3MBTL4 91133 broad.mit.edu 37 18 6241381 6241381 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr18:6241381C>A uc002kmz.3 - 8 688 c.528G>T c.(526-528)AAG>AAT p.K176N L3MBTL4_uc010dkt.2_Missense_Mutation_p.K176N|L3MBTL4_uc002kmy.3_Missense_Mutation_p.K14N NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 176 MBT 2. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) TGAATAATTTCTTTGGAGCAT 0.303 40 229 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56278980 56278980 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr18:56278980G>A uc002lhj.3 - 2 264 c.50C>T c.(49-51)ACA>ATA p.T17I NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 17 Ig-like 1. ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GGAAAGCAATGTAGATAAAAA 0.463 36 157 --- --- --- --- PASS TLE2 7089 broad.mit.edu 37 19 3028720 3028720 + Nonsense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:3028720G>A uc002lww.2 - 2 369 c.106C>T c.(106-108)CAG>TAG p.Q36* TLE2_uc010dth.2_Nonsense_Mutation_p.Q36*|TLE2_uc010xhc.1_5'UTR|TLE2_uc010dti.2_Nonsense_Mutation_p.Q49*|TLE2_uc010xhd.1_Nonsense_Mutation_p.Q36* NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 36 Gln-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TATTGAGCCTGAAGAAACTGG 0.672 19 101 --- --- --- --- PASS MATK 4145 broad.mit.edu 37 19 3783854 3783854 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:3783854G>A uc002lyt.2 - 6 940 c.540C>T c.(538-540)ATC>ATT p.I180I MATK_uc002lyv.2_Silent_p.I181I|MATK_uc002lyu.2_Silent_p.I139I|MATK_uc010dtq.2_Silent_p.I180I NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 180 SH2. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCCTCATCGATTGTGAGGT 0.682 13 54 --- --- --- --- PASS MPND 84954 broad.mit.edu 37 19 4355107 4355107 + Silent SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:4355107C>G uc002mae.2 + 8 1000 c.933C>G c.(931-933)CTC>CTG p.L311L MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Intron|MPND_uc002maf.2_Silent_p.L311L|MPND_uc002mah.2_Silent_p.L199L|MPND_uc002mai.2_Silent_p.L199L NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 311 MPN. peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGACGGTGCTCAGAGCCTTCC 0.677 9 72 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8175749 8175749 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:8175749C>G uc002mjf.2 - 33 4334 c.4313G>C c.(4312-4314)CGA>CCA p.R1438P NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1438 EGF-like 22; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GCCACCCCCTCGGTCCAGTTC 0.532 27 161 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9009681 9009681 + Silent SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:9009681G>C uc002mkp.2 - 39 39249 c.39045C>G c.(39043-39045)CTC>CTG p.L13015L MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13017 Extracellular (Potential).|SEA 7. 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 TGGTAAAGTTGAGGGTGAACG 0.498 4 168 --- --- --- --- PASS QTRT1 81890 broad.mit.edu 37 19 10812667 10812667 + Silent SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:10812667C>T uc002mpr.2 + 2 310 c.285C>T c.(283-285)TTC>TTT p.F95F NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 95 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) TCCACGGCTTCATGAATTGGC 0.572 37 142 --- --- --- --- PASS CCDC105 126402 broad.mit.edu 37 19 15132721 15132721 + Missense_Mutation SNP G A A rs144636554 TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:15132721G>A uc002nae.2 + 6 1340 c.1241G>A c.(1240-1242)CGC>CAC p.R414H NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 414 microtubule cytoskeleton organization microtubule ovary(1) 1 GAGGCTGCGCGCCTCGCACAG 0.622 11 68 --- --- --- --- PASS PRX 57716 broad.mit.edu 37 19 40902362 40902362 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:40902362C>T uc002onr.2 - 7 2166 c.1897G>A c.(1897-1899)GAG>AAG p.E633K PRX_uc002onq.2_Missense_Mutation_p.E494K|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 633 32.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGTTTCATCTCAGGGAGCTTC 0.587 54 285 --- --- --- --- PASS PRX 57716 broad.mit.edu 37 19 40902675 40902675 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:40902675C>A uc002onr.2 - 7 1853 c.1584G>T c.(1582-1584)ATG>ATT p.M528I PRX_uc002onq.2_Missense_Mutation_p.M389I|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 528 15.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTGGGAGTTTCATCTCCGACA 0.567 35 186 --- --- --- --- PASS TMEM145 284339 broad.mit.edu 37 19 42818842 42818842 + Silent SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:42818842C>T uc002otk.1 + 4 403 c.351C>T c.(349-351)TCC>TCT p.S117S NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 117 integral to membrane 0 Prostate(69;0.00682) ATGCCTGGTCCGGCTGTCAGG 0.622 37 166 --- --- --- --- PASS PPP1R13L 10848 broad.mit.edu 37 19 45895149 45895149 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:45895149G>C uc002pbn.2 - 8 1881 c.1804C>G c.(1804-1806)CCG>GCG p.P602A PPP1R13L_uc002pbm.2_Missense_Mutation_p.P181A|PPP1R13L_uc002pbo.2_Missense_Mutation_p.P602A NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 602 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) ATGCTCTGCGGCTGCTCTGGT 0.547 19 61 --- --- --- --- PASS BBC3 27113 broad.mit.edu 37 19 47725147 47725147 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:47725147G>A uc002pgf.3 - 4 775 c.494C>T c.(493-495)CCC>CTC p.P165L BBC3_uc010xyl.1_Silent_p.P199P|BBC3_uc010eky.2_Missense_Mutation_p.P103L|BBC3_uc010ekz.2_Silent_p.P39P NM_014417 NP_055232 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 isoform 4 165 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding|protein binding 0 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) CCAGGGTGAGGGGCGGTGCCG 0.612 16 52 --- --- --- --- PASS C19orf75 284369 broad.mit.edu 37 19 51770708 51770708 + Silent SNP A G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:51770708A>G uc002pwb.1 + 5 873 c.492A>G c.(490-492)CAA>CAG p.Q164Q C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Silent_p.Q70Q NM_173635 NP_775906 Q8N7X8 CS075_HUMAN hypothetical protein LOC284369 164 integral to membrane ovary(1)|pancreas(1) 2 GAGCAAGCCAAGAACTTGAGA 0.453 42 197 --- --- --- --- PASS PPP2R1A 5518 broad.mit.edu 37 19 52723032 52723032 + Missense_Mutation SNP C G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr19:52723032C>G uc002pyp.2 + 10 1376 c.1217C>G c.(1216-1218)CCT>CGT p.P406R PPP2R1A_uc010ydk.1_Missense_Mutation_p.P351R|PPP2R1A_uc002pyq.2_Missense_Mutation_p.P227R NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 406 HEAT 11.|PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TCCCTGCTCCCTGCCATTGTG 0.612 Mis clear cell ovarian carcinoma 21 67 --- --- --- --- PASS PYGB 5834 broad.mit.edu 37 20 25239951 25239951 + Missense_Mutation SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr20:25239951G>T uc002wup.2 + 2 431 c.322G>T c.(322-324)GCC>TCC p.A108S NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 108 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) CCTTCAGAATGCCTGCGATGA 0.522 8 101 --- --- --- --- PASS BLCAP 10904 broad.mit.edu 37 20 36147493 36147493 + Missense_Mutation SNP G T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr20:36147493G>T uc002xha.2 - 2 287 c.84C>A c.(82-84)TTC>TTA p.F28L BLCAP_uc002xhb.2_Missense_Mutation_p.F28L|BLCAP_uc002xhc.2_Missense_Mutation_p.F28L|NNAT_uc002xhd.2_5'Flank|NNAT_uc002xhe.2_5'Flank NM_006698 NP_006689 P62952 BLCAP_HUMAN bladder cancer associated protein 28 Helical; (Potential). apoptosis|cell cycle integral to membrane 0 Myeloproliferative disorder(115;0.00878) AGAAGCCCATGAACATGGAGT 0.577 8 31 --- --- --- --- PASS C20orf43 51507 broad.mit.edu 37 20 55048360 55048360 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr20:55048360G>A uc002xxt.2 + 2 180 c.73G>A c.(73-75)GAC>AAC p.D25N C20orf43_uc010zzf.1_Missense_Mutation_p.D55N|C20orf43_uc002xxu.2_Missense_Mutation_p.D25N|C20orf43_uc002xxv.2_Missense_Mutation_p.D25N NM_016407 NP_057491 Q9BY42 CT043_HUMAN hypothetical protein LOC51507 25 ovary(1) 1 Colorectal(105;0.202) TTATTAGGTCGACAAAGATGC 0.338 16 103 --- --- --- --- PASS RBM38 55544 broad.mit.edu 37 20 55967737 55967737 + Missense_Mutation SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr20:55967737G>A uc010zzj.1 + 2 440 c.265G>A c.(265-267)GAG>AAG p.E89K RBM38_uc010zzk.1_Missense_Mutation_p.E89K NM_017495 NP_059965 Q9H0Z9 RBM38_HUMAN RNA-binding region containing protein 1 isoform 89 RRM. 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|cytosol|nucleus|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding 0 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) GGCGGCAGCTGAGAGGGCTTG 0.677 15 48 --- --- --- --- PASS TAF4 6874 broad.mit.edu 37 20 60578311 60578311 + Silent SNP G A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr20:60578311G>A uc002ybs.2 - 9 2391 c.2391C>T c.(2389-2391)GCC>GCT p.A797A NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 797 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CAGGTAACACGGCGGGTTTCA 0.488 16 94 --- --- --- --- PASS DNMT3L 29947 broad.mit.edu 37 21 45674549 45674549 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr21:45674549G>C uc002zeg.1 - 8 1128 c.644C>G c.(643-645)CCG>CGG p.P215R DNMT3L_uc002zeh.1_Missense_Mutation_p.P215R NM_175867 NP_787063 Q9UJW3 DNM3L_HUMAN cytosine-5-methyltransferase 3-like protein 215 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding skin(2) 2 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) CAGTTGTCCCGGGTCAGAACC 0.572 3 98 --- --- --- --- PASS SF3A1 10291 broad.mit.edu 37 22 30735139 30735139 + Missense_Mutation SNP T A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr22:30735139T>A uc003ahl.2 - 10 1609 c.1477A>T c.(1477-1479)ATC>TTC p.I493F NM_005877 NP_005868 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa isoform 1 493 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding ovary(3)|large_intestine(1)|pancreas(1) 5 GGCTTCTGGATCTCCTCCTCA 0.512 6 291 --- --- --- --- PASS LGALS1 3956 broad.mit.edu 37 22 38075647 38075647 + Missense_Mutation SNP A G G TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chr22:38075647A>G uc003atn.2 + 4 396 c.299A>G c.(298-300)AAG>AGG p.K100R NM_002305 NP_002296 P09382 LEG1_HUMAN galectin-1 100 Galectin. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis cytoplasm|extracellular space|proteinaceous extracellular matrix galactoside binding|signal transducer activity 0 Melanoma(58;0.0574) CTGACCGTCAAGCTGCCAGAT 0.582 16 54 --- --- --- --- PASS ASMTL 8623 broad.mit.edu 37 X 1546948 1546948 + Missense_Mutation SNP G C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chrX:1546948G>C uc004cpx.1 - 7 687 c.576C>G c.(574-576)GAC>GAG p.D192E ASMTL_uc011mhe.1_Missense_Mutation_p.D116E|ASMTL_uc004cpy.1_Missense_Mutation_p.D176E|ASMTL_uc011mhf.1_Missense_Mutation_p.D134E NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 192 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGTTCAGAAAGTCCCCGTGTA 0.637 10 44 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37026697 37026697 + Missense_Mutation SNP C T T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chrX:37026697C>T uc004ddl.1 + 1 228 c.214C>T c.(214-216)CGC>TGC p.R72C NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 72 ovary(3) 3 GCTTGTTTGTCGCCGTGACGA 0.532 22 99 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73960686 73960686 + Missense_Mutation SNP T C C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chrX:73960686T>C uc004eby.2 - 3 4323 c.3706A>G c.(3706-3708)AAA>GAA p.K1236E NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1236 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 ATTTGCATTTTCTCTCCATTG 0.493 17 79 --- --- --- --- PASS PNMA5 114824 broad.mit.edu 37 X 152159319 152159319 + Missense_Mutation SNP T A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chrX:152159319T>A uc010ntw.2 - 3 1163 c.824A>T c.(823-825)CAC>CTC p.H275L PNMA5_uc004fha.3_Missense_Mutation_p.H275L|PNMA5_uc010ntx.2_Missense_Mutation_p.H275L|PNMA5_uc004fgy.3_Missense_Mutation_p.H275L NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 275 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GGGGCTCTTGTGCACGGCTTT 0.567 112 196 --- --- --- --- PASS PDZD4 57595 broad.mit.edu 37 X 153072220 153072220 + Missense_Mutation SNP C A A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5215060d-5ffd-49f3-a7a7-73167e7af74a e93edfbf-333c-4f5f-94db-96bb9941221a g.chrX:153072220C>A uc004fiz.1 - 4 713 c.463G>T c.(463-465)GAC>TAC p.D155Y PDZD4_uc004fiy.1_Missense_Mutation_p.D80Y|PDZD4_uc004fix.2_Missense_Mutation_p.D59Y|PDZD4_uc004fja.1_Missense_Mutation_p.D161Y|PDZD4_uc011mze.1_Missense_Mutation_p.D46Y NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 155 PDZ. cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATGCCCAGGTCCTCCTCGTCG 0.627 48 78 --- --- --- --- PASS