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 HSPG2 3339 broad.mit.edu 37 1 22216521 22216521 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:22216521G>C uc001bfj.2 - 6 567 c.527C>G c.(526-528)TCC>TGC p.S176C HSPG2_uc009vqd.2_Missense_Mutation_p.S176C|HSPG2_uc009vqe.1_Missense_Mutation_p.P75A NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 176 SEA. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGTGACGTAGGAGGCCACAGA 0.577 32 49 --- --- --- --- PASS IPO13 9670 broad.mit.edu 37 1 44415579 44415579 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:44415579C>A uc001ckx.2 + 2 1370 c.575C>A c.(574-576)ACC>AAC p.T192N NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 192 HEAT 1. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CTGGTGCGGACCAGCCTGGCG 0.642 3 23 --- --- --- --- PASS RPE65 6121 broad.mit.edu 37 1 68910338 68910338 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:68910338C>A uc001dei.1 - 5 425 c.371G>T c.(370-372)CGA>CTA p.R124L NM_000329 NP_000320 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 124 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity ovary(1) 1 CTCTACTCCTCGAAAGTAAGA 0.363 26 41 --- --- --- --- PASS BRDT 676 broad.mit.edu 37 1 92441989 92441989 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:92441989G>T uc001dok.3 + 5 961 c.612G>T c.(610-612)GCG>GCT p.A204A BRDT_uc001dol.3_Silent_p.A204A|BRDT_uc010osz.1_Silent_p.A208A|BRDT_uc009wdf.2_Silent_p.A131A|BRDT_uc010ota.1_Silent_p.A158A|BRDT_uc010otb.1_Silent_p.A158A|BRDT_uc001dom.3_Silent_p.A204A NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CACAAACTGCGGCCCAAGTAA 0.353 21 39 --- --- --- --- PASS NOTCH2NL 388677 broad.mit.edu 37 1 145281588 145281588 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:145281588G>T uc001emn.3 + 4 888 c.518G>T c.(517-519)GGC>GTC p.G173V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.G173V|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G173V|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 173 EGF-like 5; calcium-binding (Potential). cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 TGCCTTCAGGGCTTCACAGGC 0.562 18 203 --- --- --- --- PASS HFE2 148738 broad.mit.edu 37 1 145415545 145415545 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:145415545C>A uc001eni.2 + 3 689 c.364C>A c.(364-366)CAG>AAG p.Q122K NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_Missense_Mutation_p.Q9K|HFE2_uc001enl.2_Intron NM_213653 NP_998818 Q6ZVN8 RGMC_HUMAN hemojuvelin isoform a precursor 122 axon guidance anchored to membrane ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGCTCCCGCCAGGGCCCTAC 0.602 10 42 --- --- --- --- PASS TRIM46 80128 broad.mit.edu 37 1 155148600 155148600 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:155148600G>A uc001fhs.1 + 3 645 c.562G>A c.(562-564)GAG>AAG p.E188K RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.E175K|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.E188K|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.E62K|TRIM46_uc001fhu.1_Missense_Mutation_p.E165K|TRIM46_uc009wpg.1_Missense_Mutation_p.E175K|TRIM46_uc009wpf.2_3'UTR|TRIM46_uc001fhv.3_Missense_Mutation_p.E175K|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 188 RING-type 2; degenerate. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGGCTGCACAGAGTGCCGCGC 0.642 31 89 --- --- --- --- PASS HCN3 57657 broad.mit.edu 37 1 155252472 155252472 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:155252472G>T uc001fjz.1 + 2 557 c.549G>T c.(547-549)GTG>GTT p.V183V RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 183 Helical; Name=Segment S3; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) 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) CTATCCCTGTGGATTACATCT 0.592 18 48 --- --- --- --- PASS ETV3 2117 broad.mit.edu 37 1 157105292 157105292 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:157105292C>T uc001fqr.2 - 3 544 c.255G>A c.(253-255)ATG>ATA p.M85I ETV3_uc001fqt.2_Missense_Mutation_p.M85I NM_001145312 NP_001138784 P41162 ETV3_HUMAN ets variant gene 3 isoform 1 85 ETS. sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(266;0.158) Prostate(1639;0.174) TGTCATAATTCATCTGTGGTT 0.507 16 68 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158943500 158943500 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:158943500G>T uc001ftb.2 + 8 1668 c.1423G>T c.(1423-1425)GTG>TTG p.V475L PYHIN1_uc001ftc.2_Missense_Mutation_p.V466L|PYHIN1_uc001ftd.2_Intron|PYHIN1_uc001fte.2_Intron NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 475 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) CTCACCAACTGTGGCCCCTCC 0.443 23 75 --- --- --- --- PASS C1orf111 284680 broad.mit.edu 37 1 162343862 162343862 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:162343862G>T uc001gbx.2 - 3 826 c.762C>A c.(760-762)GGC>GGA p.G254G NM_182581 NP_872387 Q5T0L3 CA111_HUMAN hypothetical protein LOC284680 254 ovary(1) 1 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) AGGCTTCACCGCCAATTTGCC 0.567 67 261 --- --- --- --- PASS KIFAP3 22920 broad.mit.edu 37 1 169951129 169951129 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:169951129G>A uc001ggv.2 - 15 2053 c.1782C>T c.(1780-1782)CTC>CTT p.L594L KIFAP3_uc010plx.1_Silent_p.L296L NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 594 ARM 4. blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCAATTCAATGAGTGCAGGGA 0.303 11 32 --- --- --- --- PASS C1orf129 80133 broad.mit.edu 37 1 170940928 170940928 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:170940928G>A uc001ghg.2 + 8 650 c.520G>A c.(520-522)GAG>AAG p.E174K C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.E174K NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 174 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCTGGCAGCAGAGCTGTCTCT 0.438 58 241 --- --- --- --- PASS FMO1 2326 broad.mit.edu 37 1 171244533 171244533 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:171244533C>G uc009wvz.2 + 4 506 c.370C>G c.(370-372)CAA>GAA p.Q124E FMO1_uc010pme.1_Missense_Mutation_p.Q61E|FMO1_uc001ghl.2_Missense_Mutation_p.Q124E|FMO1_uc001ghm.2_Missense_Mutation_p.Q124E|FMO1_uc001ghn.2_Missense_Mutation_p.Q124E NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 124 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGTCTCTGGCCAATGGGAGGT 0.423 21 66 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171504714 171504714 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:171504714C>G uc010pmg.1 + 13 2281 c.2015C>G c.(2014-2016)CCT>CGT p.P672R NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 672 Gln-rich. protein C-terminus binding 0 AAGTCTTTACCTCCACGATTC 0.413 49 176 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564197 176564197 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:176564197C>A uc001gkz.2 + 3 2621 c.1457C>A c.(1456-1458)CCA>CAA p.P486Q PAPPA2_uc001gky.1_Missense_Mutation_p.P486Q|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 486 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GGCTTTGAGCCAGAGCCTGAG 0.527 21 68 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564198 176564198 + Silent SNP A C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:176564198A>C uc001gkz.2 + 3 2622 c.1458A>C c.(1456-1458)CCA>CCC p.P486P PAPPA2_uc001gky.1_Silent_p.P486P|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 486 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCTTTGAGCCAGAGCCTGAGA 0.527 21 67 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176709227 176709227 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:176709227G>C uc001gkz.2 + 14 5210 c.4046G>C c.(4045-4047)CGG>CCG p.R1349P PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1349 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TCATCCCCACGGGTCGGCATC 0.522 32 118 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177249550 177249550 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:177249550C>T uc001glf.2 + 8 1550 c.1238C>T c.(1237-1239)TCC>TTC p.S413F FAM5B_uc001glg.2_Missense_Mutation_p.S308F NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 413 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TCCCCAAGGTCCTTGTCCTAC 0.527 16 102 --- --- --- --- PASS SEC16B 89866 broad.mit.edu 37 1 177902668 177902668 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:177902668C>A uc001gli.1 - 21 2765 c.2675G>T c.(2674-2676)CGA>CTA p.R892L SEC16B_uc001glk.1_Missense_Mutation_p.R569L|SEC16B_uc009wwy.1_Missense_Mutation_p.R447L|SEC16B_uc001glh.1_Missense_Mutation_p.R551L|SEC16B_uc009wwz.1_Missense_Mutation_p.R551L|SEC16B_uc001glj.1_Missense_Mutation_p.R893L NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 892 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 GGCAGTATTTCGGGGAGAGTT 0.532 10 37 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180017694 180017694 + Missense_Mutation SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:180017694A>G uc001gnt.2 + 22 5029 c.4646A>G c.(4645-4647)CAA>CGA p.Q1549R CEP350_uc009wxl.2_Missense_Mutation_p.Q1548R NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1549 Ser-rich. centrosome|nucleus|spindle ovary(4) 4 AGCAGCCGCCAAGAAAGTCCT 0.358 23 85 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186056380 186056380 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:186056380G>T uc001grq.1 + 59 9307 c.9078G>T c.(9076-9078)AAG>AAT p.K3026N NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3026 Ig-like C2-type 28. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TTCGGGCCAAGGTATCAGATG 0.383 4 75 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186064593 186064593 + Missense_Mutation SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:186064593A>G uc001grq.1 + 68 10742 c.10513A>G c.(10513-10515)ACC>GCC p.T3505A NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3505 Ig-like C2-type 33. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GGGAAAGTACACCTGCATTGC 0.473 15 63 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186300668 186300668 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:186300668G>C uc001grv.2 - 39 5947 c.5650C>G c.(5650-5652)CAG>GAG p.Q1884E NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1884 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTGTATACCTGAGTCTCTACC 0.363 T NTRK1 papillary thyroid 21 85 --- --- --- --- PASS CFHR2 3080 broad.mit.edu 37 1 196918772 196918772 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:196918772G>T uc001gtq.1 + 2 323 c.246G>T c.(244-246)AAG>AAT p.K82N CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 82 Sushi 1. extracellular region skin(2)|ovary(1) 3 CAACACCAAAGTGTCTCAGTG 0.388 16 48 --- --- --- --- PASS ZBTB41 360023 broad.mit.edu 37 1 197168544 197168544 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:197168544G>C uc001gtx.1 - 1 1129 c.1060C>G c.(1060-1062)CAG>GAG p.Q354E ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TTGCTGTTCTGAATGACCACT 0.363 13 76 --- --- --- --- PASS LMOD1 25802 broad.mit.edu 37 1 201868376 201868376 + Nonsense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:201868376G>A uc001gxb.2 - 2 2013 c.1765C>T c.(1765-1767)CAG>TAG p.Q589* LMOD1_uc010ppu.1_Nonsense_Mutation_p.Q538* NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 589 WH2. muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 TTCTTGAGCTGCTTGAGGTTG 0.582 5 19 --- --- --- --- PASS MYBPH 4608 broad.mit.edu 37 1 203143593 203143593 + Missense_Mutation SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:203143593A>G uc001gzh.1 - 3 532 c.473T>C c.(472-474)ATG>ACG p.M158T FMOD_uc010pqi.1_Intron NM_004997 NP_004988 Q13203 MYBPH_HUMAN myosin binding protein H 158 Fibronectin type-III 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle 0 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) CTGGTCCAGCATGGCCGGCGG 0.582 11 53 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 211093085 211093085 + Silent SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:211093085C>A uc001hib.2 - 7 1529 c.1359G>T c.(1357-1359)TCG>TCT p.S453S KCNH1_uc001hic.2_Silent_p.S426S NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 453 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGAAATACAACGAGGAGATGT 0.502 24 96 --- --- --- --- PASS RPS6KC1 26750 broad.mit.edu 37 1 213415138 213415138 + Silent SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:213415138C>A uc010ptr.1 + 11 2478 c.2319C>A c.(2317-2319)CCC>CCA p.P773P RPS6KC1_uc001hkd.2_Silent_p.P761P|RPS6KC1_uc010pts.1_Silent_p.P561P|RPS6KC1_uc010ptt.1_Silent_p.P561P|RPS6KC1_uc010ptu.1_Silent_p.P592P|RPS6KC1_uc010ptv.1_Silent_p.P308P|RPS6KC1_uc001hke.2_Silent_p.P592P NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 773 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AGGAGGATCCCAGGATGTTAT 0.443 25 106 --- --- --- --- PASS TMEM63A 9725 broad.mit.edu 37 1 226054858 226054858 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:226054858C>T uc001hpm.1 - 8 770 c.520G>A c.(520-522)GAC>AAC p.D174N TMEM63A_uc010pvi.1_Missense_Mutation_p.D174N NM_014698 NP_055513 O94886 TM63A_HUMAN transmembrane protein 63A 174 integral to membrane|lysosomal membrane nucleotide binding ovary(1)|breast(1) 2 Breast(184;0.197) CTATACGGGTCTTTGTCTGCA 0.527 34 213 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228529140 228529140 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:228529140G>A uc009xez.1 + 74 17903 c.17859G>A c.(17857-17859)CTG>CTA p.L5953L OBSCN_uc001hsn.2_Silent_p.L5953L|OBSCN_uc001hsr.1_Silent_p.L582L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5953 PH. 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) ACCCACAGCTGAGCAGCATCG 0.652 4 17 --- --- --- --- PASS ACTA1 58 broad.mit.edu 37 1 229568328 229568328 + Silent SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:229568328G>C uc001htm.2 - 3 534 c.429C>G c.(427-429)TCC>TCG p.S143S NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 143 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) AGGCGTAGAGGGACAGCACGG 0.493 16 57 --- --- --- --- PASS ABCB10 23456 broad.mit.edu 37 1 229675264 229675264 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:229675264C>A uc001htp.3 - 6 1321 c.1278G>T c.(1276-1278)ATG>ATT p.M426I NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 426 Mitochondrial intermembrane (Potential).|Helical; (Potential).|ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CACCCACGGTCATGTGGGCAC 0.453 33 100 --- --- --- --- PASS ZP4 57829 broad.mit.edu 37 1 238053419 238053419 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:238053419C>G uc001hym.2 - 2 233 c.233G>C c.(232-234)AGA>ACA p.R78T LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 78 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGGACCTTTTCTTATCCAGGT 0.557 34 95 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240341368 240341368 + Nonsense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:240341368G>T uc010pyd.1 + 3 2155 c.1930G>T c.(1930-1932)GAA>TAA p.E644* FMN2_uc010pye.1_Nonsense_Mutation_p.E644* NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 644 E -> EDDGE (in Ref. 2; BAD92390). actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGCTGAAACAGGTAACCCTTT 0.413 10 49 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240341369 240341369 + Splice_Site SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:240341369G>T uc010pyd.1 + 3 2155 c.1930_splice c.e3+1 p.E644_splice FMN2_uc010pye.1_Splice_Site_p.E644_splice NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCTGAAACAGGTAACCCTTTC 0.418 10 48 --- --- --- --- PASS OR2AK2 391191 broad.mit.edu 37 1 248129375 248129375 + Nonsense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:248129375G>T uc010pzd.1 + 1 742 c.742G>T c.(742-744)GGA>TGA p.G248* OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 248 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CTCAGGAAAAGGACAGGCAAA 0.483 12 61 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248569835 248569835 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr1:248569835G>T uc010pzm.1 + 1 540 c.540G>T c.(538-540)CTG>CTT p.L180L NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 180 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L180R(1) pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCAACCCTCTGAGATACCCTG 0.547 35 118 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1684049 1684049 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:1684049C>A uc002qxa.2 - 7 710 c.646G>T c.(646-648)GCG>TCG p.A216S PXDN_uc002qxb.1_Missense_Mutation_p.A216S|PXDN_uc002qxc.1_Missense_Mutation_p.A33S NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 216 LRRCT. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCTGCCTGCGCGTTCCCCGAC 0.582 6 37 --- --- --- --- PASS DNAJC27 51277 broad.mit.edu 37 2 25180784 25180784 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:25180784C>G uc002rft.1 - 4 351 c.300G>C c.(298-300)CAG>CAC p.Q100H DNAJC27_uc010ykn.1_Missense_Mutation_p.Q29H|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Missense_Mutation_p.Q100H NM_016544 NP_057628 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 100 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding skin(1) 1 AGGAGTCTTTCTGCCCAACAT 0.413 13 67 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27445786 27445786 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:27445786C>T uc002rji.2 + 6 852 c.690C>T c.(688-690)CCC>CCT p.P230P CAD_uc010eyw.2_Silent_p.P230P NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 230 Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCTCCTATCCCAGTGTCGTAT 0.498 58 82 --- --- --- --- PASS NRBP1 29959 broad.mit.edu 37 2 27660216 27660216 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:27660216C>G uc002rko.2 + 11 1724 c.892C>G c.(892-894)CCA>GCA p.P298A NRBP1_uc002rkq.2_Missense_Mutation_p.P298A|NRBP1_uc002rkp.2_Missense_Mutation_p.P298A|NRBP1_uc002rkr.2_Missense_Mutation_p.P89A NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 298 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) TCTAGAAGACCCATTACAGAG 0.488 14 30 --- --- --- --- PASS ZFP36L2 678 broad.mit.edu 37 2 43452474 43452474 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:43452474C>G uc002rsv.3 - 2 760 c.469G>C c.(469-471)GAG>CAG p.E157Q LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 157 C3H1-type 1.|RNA-binding. cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CGGCACAGCTCGGTCTTGTAG 0.652 15 18 --- --- --- --- PASS TSPYL6 388951 broad.mit.edu 37 2 54482223 54482223 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:54482223C>T uc002rxr.2 - 1 1187 c.1066G>A c.(1066-1068)GAC>AAC p.D356N ACYP2_uc002rxq.3_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN TSPY-like 6 356 nucleosome assembly nucleus 0 AGGCTGTGGTCTGAAAACCAG 0.507 14 79 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61417456 61417456 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:61417456C>G uc002sbe.2 - 78 9845 c.9823G>C c.(9823-9825)GAT>CAT p.D3275H USP34_uc002sbd.2_Missense_Mutation_p.D77H NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3275 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TTGGAGAAATCAGACTGTAGG 0.403 9 124 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61524017 61524017 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:61524017G>C uc002sbe.2 - 30 4194 c.4172C>G c.(4171-4173)TCT>TGT p.S1391C NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1391 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) GACCCGCCTAGACAGATTTTC 0.378 27 308 --- --- --- --- PASS SLC1A4 6509 broad.mit.edu 37 2 65243695 65243695 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:65243695C>A uc010yqa.1 + 5 1244 c.922C>A c.(922-924)CAT>AAT p.H308N SLC1A4_uc010ypy.1_Missense_Mutation_p.H88N|SLC1A4_uc010ypz.1_Intron|SLC1A4_uc010fcv.2_Missense_Mutation_p.H308N|SLC1A4_uc002sdh.2_Missense_Mutation_p.H88N NM_003038 NP_003029 P43007 SATT_HUMAN solute carrier family 1, member 4 isoform 1 308 Helical; (Potential). cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(1) 1 L-Alanine(DB00160) CCATGTTATTCATGGAGGAAT 0.453 24 362 --- --- --- --- PASS TIA1 7072 broad.mit.edu 37 2 70456422 70456422 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:70456422G>C uc002sgj.3 - 4 468 c.251C>G c.(250-252)CCT>CGT p.P84R TIA1_uc002sgk.3_Missense_Mutation_p.P84R|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Missense_Mutation_p.P84R|TIA1_uc010yqt.1_Missense_Mutation_p.P84R NM_022173 NP_071505 P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding 84 apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding 0 TTGACTGCTAGGGGTTGTTGC 0.284 7 124 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80646714 80646714 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:80646714C>G uc010ysh.1 + 8 1283 c.1278C>G c.(1276-1278)AAC>AAG p.N426K CTNNA2_uc010yse.1_Missense_Mutation_p.N426K|CTNNA2_uc010ysf.1_Missense_Mutation_p.N426K|CTNNA2_uc010ysg.1_Missense_Mutation_p.N426K|CTNNA2_uc010ysi.1_Missense_Mutation_p.N58K NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 426 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AGCATGCCAACAAACTGGTAG 0.433 25 45 --- --- --- --- PASS SEPT10 151011 broad.mit.edu 37 2 110310749 110310749 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:110310749C>T uc002tew.2 - 9 1455 c.1076G>A c.(1075-1077)CGT>CAT p.R359H SEPT10_uc010ywu.1_Missense_Mutation_p.R192H|SEPT10_uc002tex.2_Missense_Mutation_p.R336H|SEPT10_uc002tey.2_Missense_Mutation_p.R359H|SEPT10_uc010ywv.1_Missense_Mutation_p.R225H|SEPT10_uc002tev.1_Missense_Mutation_p.R166H|SEPT10_uc010fjo.2_Intron NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN septin 10 isoform 1 359 cell cycle|cell division septin complex GTP binding 0 CTTCCTCTGACGTTCACCATG 0.373 23 93 --- --- --- --- PASS PAX8 7849 broad.mit.edu 37 2 113993011 113993011 + Silent SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:113993011G>C uc010yxt.1 - 9 1213 c.1047C>G c.(1045-1047)GCC>GCG p.A349A PAX8_uc010yxu.1_Missense_Mutation_p.P323R|PAX8_uc010yxv.1_Intron|PAX8_uc002tjm.2_Intron|PAX8_uc002tjn.2_Intron|uc002tjp.2_5'Flank|LOC654433_uc002tjq.3_5'Flank|LOC654433_uc010fks.2_5'Flank|LOC654433_uc010fkt.2_5'Flank|LOC654433_uc002tjr.3_5'Flank NM_003466 NP_003457 Q06710 PAX8_HUMAN paired box 8 isoform PAX8A 349 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity ovary(1)|lung(1) 2 CGTACACGGAGGCAGCATGGG 0.642 T PPARG follicular thyroid Thyroid dysgenesis 4 8 --- --- --- --- PASS SMPD4 55627 broad.mit.edu 37 2 130912698 130912698 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:130912698T>A uc002tqq.1 - 15 2061 c.1541A>T c.(1540-1542)CAG>CTG p.Q514L SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.Q253L|SMPD4_uc010yzy.1_Missense_Mutation_p.Q263L|SMPD4_uc010yzz.1_Missense_Mutation_p.Q178L|SMPD4_uc002tqr.1_Missense_Mutation_p.Q485L|SMPD4_uc002tqs.1_Missense_Mutation_p.Q382L|SMPD4_uc002tqt.1_Missense_Mutation_p.Q363L|SMPD4_uc010zaa.1_Missense_Mutation_p.Q372L|SMPD4_uc010zab.1_Missense_Mutation_p.Q412L|SMPD4_uc010zac.1_Missense_Mutation_p.Q255L|SMPD4_uc010zad.1_Missense_Mutation_p.Q150L NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 475 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) CAGGTTGGGCTGGGCAAAGAC 0.607 12 43 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135757526 135757526 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:135757526C>T uc002tue.1 - 4 326 c.295G>A c.(295-297)GAA>AAA p.E99K YSK4_uc010fne.1_Missense_Mutation_p.E71K|YSK4_uc002tuf.1_Missense_Mutation_p.E99K|YSK4_uc010fnc.1_Missense_Mutation_p.E99K|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Missense_Mutation_p.E99K|YSK4_uc002tui.3_Missense_Mutation_p.E116K NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 99 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TTTAAGTCTTCTTGGCTCATT 0.348 22 67 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141274476 141274476 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:141274476G>T uc002tvj.1 - 50 9103 c.8131C>A c.(8131-8133)CGT>AGT p.R2711S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2711 Extracellular (Potential).|LDL-receptor class A 15. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATTCATCACGTCCATCCTCA 0.328 TSP Lung(27;0.18) 12 56 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152497110 152497110 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:152497110G>C uc010fnx.2 - 61 8635 c.8444C>G c.(8443-8445)CCC>CGC p.P2815R NEB_uc002txu.2_5'Flank NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2815 Nebulin 76. 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) CATCATCTTGGGGTCATCACG 0.488 54 247 --- --- --- --- PASS CCDC148 130940 broad.mit.edu 37 2 159033122 159033122 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:159033122C>A uc002tzq.2 - 13 1803 c.1540G>T c.(1540-1542)GCA>TCA p.A514S CCDC148_uc002tzr.2_Missense_Mutation_p.A362S|CCDC148_uc010foh.2_Missense_Mutation_p.A227S NM_138803 NP_620158 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 514 ovary(2) 2 GCTTTTGATGCCATTGTATCT 0.343 11 31 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179593309 179593309 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:179593309C>A uc010zfg.1 - 63 15836 c.15612G>T c.(15610-15612)ATG>ATT p.M5204I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M1865I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6131 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) TGTCCTGCTTCATTACTGACT 0.408 18 19 --- --- --- --- PASS SLC39A10 57181 broad.mit.edu 37 2 196548515 196548515 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:196548515G>T uc002utg.3 + 3 1315 c.1101G>T c.(1099-1101)TTG>TTT p.L367F SLC39A10_uc002uth.3_Missense_Mutation_p.L367F|SLC39A10_uc010zgp.1_5'UTR NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 367 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) GCCCTGCATTGTTATATCAAA 0.363 47 72 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196722277 196722277 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:196722277C>T uc002utj.3 - 44 8339 c.8238G>A c.(8236-8238)ATG>ATA p.M2746I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2746 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GCAGAAACCTCATGTCACCAA 0.378 35 60 --- --- --- --- PASS NRP2 8828 broad.mit.edu 37 2 206587416 206587416 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:206587416G>T uc002vaw.2 + 4 1439 c.648G>T c.(646-648)TGG>TGT p.W216C NRP2_uc002vat.2_Missense_Mutation_p.W216C|NRP2_uc002vau.2_Missense_Mutation_p.W216C|NRP2_uc002vav.2_Missense_Mutation_p.W216C|NRP2_uc002vax.2_Missense_Mutation_p.W216C|NRP2_uc002vay.2_Missense_Mutation_p.W216C|NRP2_uc010fud.2_Missense_Mutation_p.W216C NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 216 Extracellular (Potential).|CUB 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 TGGACATCTGGGATGGCATTC 0.478 14 23 --- --- --- --- PASS INPP5D 3635 broad.mit.edu 37 2 234091109 234091109 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr2:234091109G>C uc010zmo.1 + 18 2278 c.2125G>C c.(2125-2127)GAG>CAG p.E709Q INPP5D_uc010zmp.1_Missense_Mutation_p.E708Q NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 709 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGCCACATTTGAGGCAGGAGT 0.512 45 73 --- --- --- --- PASS GRM7 2917 broad.mit.edu 37 3 7348196 7348196 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:7348196C>G uc003bqm.2 + 4 1164 c.890C>G c.(889-891)GCA>GGA p.A297G GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A297G|GRM7_uc003bql.2_Missense_Mutation_p.A297G|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 297 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CAGATCCTTGCAGCAGCCAAA 0.438 39 80 --- --- --- --- PASS TTLL3 26140 broad.mit.edu 37 3 9854643 9854643 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:9854643C>T uc003btg.2 + 3 281 c.65C>T c.(64-66)ACA>ATA p.T22I ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.T22I|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_5'Flank|TTLL3_uc003bth.3_5'Flank NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 22 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) AAGATCTTTACAATCCAAGGC 0.428 31 48 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19574939 19574939 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:19574939T>A uc003cbk.1 + 16 2867 c.2672T>A c.(2671-2673)GTG>GAG p.V891E KCNH8_uc010hex.1_Missense_Mutation_p.V352E NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 891 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 ATGAGAAATGTGATCCAGCTT 0.458 40 78 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19574965 19574965 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:19574965T>A uc003cbk.1 + 16 2893 c.2698T>A c.(2698-2700)TCA>ACA p.S900T KCNH8_uc010hex.1_Missense_Mutation_p.S361T NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 900 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 AAACGTTCTGTCACCTCAGCA 0.493 40 73 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38888748 38888748 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:38888748C>G uc011ays.1 - 26 5012 c.4813G>C c.(4813-4815)GAG>CAG p.E1605Q NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1605 IV. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTGAAGTTCTCTAAAATCACA 0.408 26 58 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38904708 38904708 + Missense_Mutation SNP T G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:38904708T>G uc011ays.1 - 24 4233 c.4034A>C c.(4033-4035)CAA>CCA p.Q1345P SCN11A_uc003cis.1_Missense_Mutation_p.Q10P NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1345 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AATGGGTTTTTGAGGTTTTTT 0.368 13 30 --- --- --- --- PASS MYRIP 25924 broad.mit.edu 37 3 40192641 40192641 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:40192641C>A uc003cka.2 + 4 570 c.435C>A c.(433-435)CAC>CAA p.H145Q MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.H145Q|MYRIP_uc010hhw.2_Intron|MYRIP_uc010hhx.1_Missense_Mutation_p.H145Q|MYRIP_uc011ayz.1_5'UTR NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 145 Myosin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) ACAGGAAGCACCGGCTGGAGA 0.557 8 24 --- --- --- --- PASS CCDC72 51372 broad.mit.edu 37 3 48481715 48481715 + Silent SNP C T T rs1058384 TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:48481715C>T uc003cte.1 + 1 30 c.9C>T c.(7-9)GGC>GGT p.G3G CCDC51_uc003csz.2_5'Flank|CCDC51_uc003cta.2_5'Flank|CCDC51_uc003ctb.2_5'Flank|CCDC51_uc003ctc.2_5'Flank|CCDC51_uc003ctd.2_5'Flank NM_015933 NP_057017 Q9Y2S6 CCD72_HUMAN coiled-coil domain containing 72 3 0 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCATGTCCGGCCGCGAAGGTA 0.716 20 55 --- --- --- --- PASS CACNA1D 776 broad.mit.edu 37 3 53844043 53844043 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:53844043G>A uc003dgv.3 + 47 6073 c.5910G>A c.(5908-5910)CAG>CAA p.Q1970Q CACNA1D_uc003dgu.3_Silent_p.Q1990Q|CACNA1D_uc003dgy.3_Silent_p.Q1946Q|CACNA1D_uc003dgw.3_Silent_p.Q1637Q|CACNA1D_uc011bes.1_RNA NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1970 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GTAAAGCCCAGAAGTACTCAC 0.602 31 59 --- --- --- --- PASS ACOX2 8309 broad.mit.edu 37 3 58502934 58502934 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:58502934G>A uc003dkl.2 - 13 2024 c.1849C>T c.(1849-1851)CGG>TGG p.R617W NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 617 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) GCCACTCACCGGATCAGGCGG 0.512 21 47 --- --- --- --- PASS FRMD4B 23150 broad.mit.edu 37 3 69230202 69230202 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:69230202C>A uc003dnv.2 - 21 2989 c.2699G>T c.(2698-2700)CGT>CTT p.R900L FRMD4B_uc003dnw.2_RNA|FRMD4B_uc003dnu.2_Missense_Mutation_p.R552L|FRMD4B_uc011bga.1_Missense_Mutation_p.R744L NM_015123 NP_055938 Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 900 cytoplasm|cytoskeleton binding ovary(3)|central_nervous_system(1) 4 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) GTACCAGCCACGCAAGTGCTC 0.572 9 33 --- --- --- --- PASS WDR5B 54554 broad.mit.edu 37 3 122134320 122134320 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:122134320G>A uc003efa.1 - 1 563 c.56C>T c.(55-57)GCC>GTC p.A19V NM_019069 NP_061942 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B 19 ovary(3) 3 GBM - Glioblastoma multiforme(114;0.0704) GCTCTGATTGGCCGATGAGGA 0.498 35 95 --- --- --- --- PASS COL29A1 256076 broad.mit.edu 37 3 130159471 130159471 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:130159471G>T uc010htj.1 + 35 6783 c.6289G>T c.(6289-6291)GTA>TTA p.V2097L COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.V136L NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2097 VWFA 9.|Nonhelical region. axon guidance|cell adhesion collagen 0 AAAAGAATTTGTAAAAATGAT 0.408 7 40 --- --- --- --- PASS ZBTB38 253461 broad.mit.edu 37 3 141161660 141161660 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:141161660G>A uc003etw.2 + 8 1412 c.430G>A c.(430-432)GTT>ATT p.V144I ZBTB38_uc010hun.2_Missense_Mutation_p.V141I|ZBTB38_uc010huo.2_Missense_Mutation_p.V144I|ZBTB38_uc003ety.2_Missense_Mutation_p.V144I|ZBTB38_uc010hup.2_Missense_Mutation_p.V145I NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 144 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AAAGGGAGTGGTTAAAGAAGA 0.388 12 54 --- --- --- --- PASS GRK7 131890 broad.mit.edu 37 3 141526658 141526658 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:141526658C>G uc011bnd.1 + 3 1306 c.1222C>G c.(1222-1224)CTG>GTG p.L408V NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 408 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 GCAAAGAACTCTGCAAGACGA 0.428 3 49 --- --- --- --- PASS P2RY14 9934 broad.mit.edu 37 3 150931162 150931162 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:150931162T>C uc003eyr.1 - 3 1421 c.943A>G c.(943-945)AAA>GAA p.K315E MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.K315E NM_001081455 NP_001074924 Q15391 P2Y14_HUMAN P2Y14 receptor 315 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity large_intestine(2)|ovary(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCTGAGCTTTTAATGGAATG 0.373 17 125 --- --- --- --- PASS KNG1 3827 broad.mit.edu 37 3 186440248 186440248 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:186440248C>T uc011bsa.1 + 3 541 c.329C>T c.(328-330)ACC>ATC p.T110I KNG1_uc003fqr.2_Missense_Mutation_p.T110I NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 110 Cystatin 1. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) TGCACGGCAACCGTGGGGAAG 0.478 12 32 --- --- --- --- PASS RTP4 64108 broad.mit.edu 37 3 187086299 187086299 + Missense_Mutation SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:187086299A>T uc003frm.2 + 1 132 c.70A>T c.(70-72)ACA>TCA p.T24S NM_022147 NP_071430 Q96DX8 RTP4_HUMAN 28kD interferon responsive protein 24 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding 0 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) ACCCCGGGCCACATGGACGCT 0.493 21 112 --- --- --- --- PASS LRRC33 375387 broad.mit.edu 37 3 196381479 196381479 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:196381479C>T uc003fwv.2 + 2 173 c.69C>T c.(67-69)AGC>AGT p.S23S NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 23 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GGAACAGAAGCGGAACAGCCA 0.577 10 105 --- --- --- --- PASS KIAA0226 9711 broad.mit.edu 37 3 197410238 197410238 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr3:197410238C>A uc003fyc.2 - 13 2103 c.1920G>T c.(1918-1920)ATG>ATT p.M640I KIAA0226_uc003fyd.3_Missense_Mutation_p.M595I|KIAA0226_uc003fye.1_Missense_Mutation_p.M372I NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 640 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CTGGAAGCTGCATCCCCTCAA 0.617 17 55 --- --- --- --- PASS GC 2638 broad.mit.edu 37 4 72634119 72634119 + Missense_Mutation SNP T G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr4:72634119T>G uc003hge.2 - 3 313 c.160A>C c.(160-162)AGT>CGT p.S54R GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.S54R|GC_uc010iif.2_Missense_Mutation_p.S73R NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 54 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AACGTGCCACTGGGAAATTTT 0.413 4 34 --- --- --- --- PASS GC 2638 broad.mit.edu 37 4 72634120 72634120 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr4:72634120G>T uc003hge.2 - 3 312 c.159C>A c.(157-159)CCC>CCA p.P53P GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Silent_p.P53P|GC_uc010iif.2_Silent_p.P72P NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 53 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) ACGTGCCACTGGGAAATTTTC 0.408 4 35 --- --- --- --- PASS NPFFR2 10886 broad.mit.edu 37 4 73013088 73013088 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr4:73013088G>C uc003hgg.2 + 4 1226 c.1128G>C c.(1126-1128)AAG>AAC p.K376N NPFFR2_uc010iig.1_Missense_Mutation_p.K158N|NPFFR2_uc003hgi.2_Missense_Mutation_p.K277N|NPFFR2_uc003hgh.2_Missense_Mutation_p.K274N|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 376 Cytoplasmic (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) AGATCATTAAGATGCTCCTGA 0.502 23 64 --- --- --- --- PASS FAM13A 10144 broad.mit.edu 37 4 89859339 89859339 + Missense_Mutation SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr4:89859339A>G uc003hse.1 - 5 867 c.659T>C c.(658-660)ATG>ACG p.M220T FAM13A_uc003hsf.1_Missense_Mutation_p.M11T|FAM13A_uc003hsh.1_Missense_Mutation_p.M34T NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 220 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 AATTTTAGCCATTATCTTGTT 0.378 23 57 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114278337 114278337 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr4:114278337G>C uc003ibe.3 + 38 8663 c.8563G>C c.(8563-8565)GTA>CTA p.V2855L ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.V157L|ANK2_uc011cgb.1_Missense_Mutation_p.V2870L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2822 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCATTGTTTGGTATCTGAAGG 0.388 27 63 --- --- --- --- PASS GRIA2 2891 broad.mit.edu 37 4 158224787 158224787 + Nonsense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr4:158224787G>T uc003ipm.3 + 3 772 c.313G>T c.(313-315)GGA>TGA p.G105* GRIA2_uc011cit.1_Nonsense_Mutation_p.G58*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.G105*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.G58*|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 105 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATCATTTTGCGGAACACTCCA 0.438 72 154 --- --- --- --- PASS DDX60L 91351 broad.mit.edu 37 4 169348231 169348231 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr4:169348231G>C uc003irq.3 - 14 2141 c.1920C>G c.(1918-1920)TGC>TGG p.C640W DDX60L_uc003irr.1_Missense_Mutation_p.C640W|DDX60L_uc003irs.1_Missense_Mutation_p.C367W NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 640 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTTCACCTCGGCAATGTTTTT 0.284 10 13 --- --- --- --- PASS NEIL3 55247 broad.mit.edu 37 4 178272639 178272639 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr4:178272639G>T uc003iut.2 + 7 1092 c.975G>T c.(973-975)GTG>GTT p.V325V NEIL3_uc010irs.2_Intron NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 325 RanBP2-type. base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CCTGTGTGGTGTGTACTTTAA 0.428 BER_DNA_glycosylases 52 102 --- --- --- --- PASS IL7R 3575 broad.mit.edu 37 5 35861032 35861032 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:35861032C>T uc003jjs.2 + 2 250 c.161C>T c.(160-162)TCA>TTA p.S54L IL7R_uc011coo.1_Missense_Mutation_p.S54L|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 54 Extracellular (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TCGCAGCACTCACTGACCTGT 0.458 35 178 --- --- --- --- PASS SLC30A5 64924 broad.mit.edu 37 5 68423946 68423946 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:68423946G>C uc003jvh.2 + 15 2315 c.2114G>C c.(2113-2115)AGA>ACA p.R705T SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Intron NM_022902 NP_075053 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), 705 Cytoplasmic (Potential). cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity central_nervous_system(1) 1 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CTAGAACAAAGAATAGTACAG 0.353 29 74 --- --- --- --- PASS RGMB 285704 broad.mit.edu 37 5 98129295 98129295 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:98129295T>A uc003knc.2 + 5 1677 c.1275T>A c.(1273-1275)TTT>TTA p.F425L NM_001012761 NP_001012779 Q6NW40 RGMB_HUMAN RGM domain family, member B 384 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding 0 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) ATGCCAACTTTACTGCCGCAG 0.562 24 27 --- --- --- --- PASS YTHDC2 64848 broad.mit.edu 37 5 112878128 112878128 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:112878128G>T uc003kqn.2 + 10 1606 c.1423G>T c.(1423-1425)GAT>TAT p.D475Y YTHDC2_uc010jce.1_Missense_Mutation_p.D475Y|YTHDC2_uc010jcf.1_Missense_Mutation_p.D175Y NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 475 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TTGCCTTTCTGATATATGGCT 0.274 74 89 --- --- --- --- PASS SEMA6A 57556 broad.mit.edu 37 5 115782854 115782854 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:115782854G>A uc010jck.2 - 19 3257 c.2548C>T c.(2548-2550)CTG>TTG p.L850L SEMA6A_uc003krx.3_Silent_p.L867L|SEMA6A_uc011cwe.1_Silent_p.L229L|SEMA6A_uc003krv.3_Silent_p.L277L|SEMA6A_uc003krw.3_Silent_p.L327L|SEMA6A_uc010jcj.2_Silent_p.L394L NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 850 Cytoplasmic (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TTATACTCCAGTGTGGCGGCC 0.592 16 324 --- --- --- --- PASS PRR16 51334 broad.mit.edu 37 5 120021833 120021833 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:120021833C>T uc003ksq.2 + 2 507 c.344C>T c.(343-345)ACG>ATG p.T115M PRR16_uc003ksp.2_Missense_Mutation_p.T92M|PRR16_uc003ksr.2_Missense_Mutation_p.T45M NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 115 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) GCTATCCTCACGGTCCTGAGA 0.522 36 65 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140216019 140216019 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:140216019T>C uc003lhq.2 + 1 2051 c.2051T>C c.(2050-2052)TTG>TCG p.L684S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.L684S NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 684 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCATCGTTGGGCATTGCA 0.637 42 50 --- --- --- --- PASS PCDHA9 9752 broad.mit.edu 37 5 140228176 140228176 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:140228176C>A uc003lhu.2 + 1 820 c.96C>A c.(94-96)CAC>CAA p.H32Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.H32Q NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 32 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAGCTCCACTACTCCGTCC 0.627 45 70 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140590115 140590115 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:140590115C>A uc003liz.2 + 1 1825 c.1636C>A c.(1636-1638)CTG>ATG p.L546M PCDHB12_uc011dak.1_Missense_Mutation_p.L209M NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 546 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGCGAGGCGCTGGTGCGCGT 0.697 25 40 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140595204 140595204 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:140595204G>T uc003lja.1 + 1 1696 c.1509G>T c.(1507-1509)CTG>CTT p.L503L NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 503 Extracellular (Potential).|Cadherin 5. 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) TCACATCCCTGGTCTCCATCA 0.662 60 93 --- --- --- --- PASS HAND1 9421 broad.mit.edu 37 5 153857226 153857226 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:153857226C>A uc003lvn.2 - 1 599 c.343G>T c.(343-345)GCG>TCG p.A115S NM_004821 NP_004812 O96004 HAND1_HUMAN basic helix-loop-helix transcription factor 115 Helix-loop-helix motif. angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) CGCAACTCCGCGAATGCGCTG 0.642 7 48 --- --- --- --- PASS RMND5B 64777 broad.mit.edu 37 5 177570966 177570966 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:177570966G>A uc003mim.2 + 7 731 c.551G>A c.(550-552)CGC>CAC p.R184H RMND5B_uc003min.2_Missense_Mutation_p.R184H|RMND5B_uc003mio.2_Missense_Mutation_p.R171H|RMND5B_uc003mip.2_Missense_Mutation_p.R184H|RMND5B_uc011dgf.1_Missense_Mutation_p.R225H|RMND5B_uc003miq.2_Missense_Mutation_p.R124H NM_022762 NP_073599 Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog 184 CTLH. ovary(1)|skin(1) 2 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACAGGCAGCGCCTGCTGGAA 0.642 5 80 --- --- --- --- PASS ZNF454 285676 broad.mit.edu 37 5 178392396 178392396 + Missense_Mutation SNP A C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:178392396A>C uc003mjo.1 + 5 1262 c.991A>C c.(991-993)AAT>CAT p.N331H ZNF454_uc010jkz.1_Missense_Mutation_p.N331H NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 331 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) CTATAAATGCAATGAATGTGG 0.398 17 27 --- --- --- --- PASS BTNL3 10917 broad.mit.edu 37 5 180420135 180420135 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr5:180420135G>A uc003mmr.2 + 2 500 c.372G>A c.(370-372)GAG>GAA p.E124E NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 124 Extracellular (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) ACGATGAGGAGGCCACCTGGG 0.483 4 2 --- --- --- --- PASS SERPINB9 5272 broad.mit.edu 37 6 2896288 2896288 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:2896288G>A uc003mug.2 - 3 426 c.305C>T c.(304-306)TCA>TTA p.S102L uc003mue.2_Intron NM_004155 NP_004146 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B, member 9 102 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.108) TCAACTTACTGAGAGGAACTG 0.418 6 59 --- --- --- --- PASS HIST1H4B 8366 broad.mit.edu 37 6 26027273 26027273 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:26027273C>A uc003nfr.2 - 1 208 c.208G>T c.(208-210)GCC>TCC p.A70S NM_003544 NP_003535 P62805 H4_HUMAN histone cluster 1, H4b 70 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 TAGGTCACGGCGTCCCGGATC 0.577 OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 63 --- --- --- --- PASS HIST1H2BF 8343 broad.mit.edu 37 6 26200113 26200113 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:26200113G>C uc003ngx.2 + 1 327 c.327G>C c.(325-327)AAG>AAC p.K109N HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 109 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) AGCTGGCTAAGCACGCCGTGT 0.587 13 74 --- --- --- --- PASS MDC1 9656 broad.mit.edu 37 6 30668371 30668371 + Silent SNP A C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:30668371A>C uc003nrg.3 - 15 6581 c.6141T>G c.(6139-6141)CCT>CCG p.P2047P MDC1_uc003nrf.3_Silent_p.P678P NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 2047 Required for nuclear localization (NLS2).|BRCT 2. 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 TGGAGCAATGAGGGAAGTCCT 0.542 Other_conserved_DNA_damage_response_genes 7 101 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32014025 32014025 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:32014025C>G uc003nzl.2 - 31 10729 c.10527G>C c.(10525-10527)AAG>AAC p.K3509N TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3556 Fibronectin type-III 27. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 ACTTGTATTTCTTGCCAGGCT 0.632 21 58 --- --- --- --- PASS NOTCH4 4855 broad.mit.edu 37 6 32188918 32188918 + Missense_Mutation SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:32188918A>T uc003obb.2 - 4 775 c.636T>A c.(634-636)CAT>CAA p.H212Q NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.H212Q NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 212 EGF-like 5; calcium-binding (Potential).|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 CCAGGGTGTTATGGCAGGAGG 0.647 8 50 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33147224 33147224 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:33147224C>A uc003ocx.1 - 14 1715 c.1487G>T c.(1486-1488)GGG>GTG p.G496V COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.G410V|COL11A2_uc003ocz.1_Missense_Mutation_p.G389V NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 496 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 TCCAGGGCGCCCTGTGTATCC 0.637 4 8 --- --- --- --- PASS TBCC 6903 broad.mit.edu 37 6 42713446 42713446 + Silent SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:42713446C>A uc003osl.2 - 1 439 c.366G>T c.(364-366)GCG>GCT p.A122A NM_003192 NP_003183 Q15814 TBCC_HUMAN beta-tubulin cofactor C 122 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity 0 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) CGGCCAAGGCCGCCTGCAGCC 0.627 6 56 --- --- --- --- PASS ENPP4 22875 broad.mit.edu 37 6 46107655 46107655 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:46107655G>C uc003oxy.2 + 2 594 c.335G>C c.(334-336)TGG>TCG p.W112S NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 112 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 GATCCTTTTTGGTGGAATGAG 0.438 16 109 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50697018 50697018 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:50697018G>T uc003paf.2 + 5 1388 c.876G>T c.(874-876)TTG>TTT p.L292F TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 292 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity p.L292F(1) ovary(6)|breast(1) 7 Lung NSC(77;0.0334) TTACTTCCTTGGTTGAAGGTA 0.423 23 168 --- --- --- --- PASS FAM83B 222584 broad.mit.edu 37 6 54804947 54804947 + Missense_Mutation SNP A G G rs28592584 TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:54804947A>G uc003pck.2 + 5 1294 c.1178A>G c.(1177-1179)CAG>CGG p.Q393R NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 393 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) GCTGGGGAACAGCCAGAAACA 0.418 11 117 --- --- --- --- PASS POPDC3 64208 broad.mit.edu 37 6 105609428 105609428 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:105609428C>T uc003prb.2 - 2 759 c.357G>A c.(355-357)CTG>CTA p.L119L uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 119 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) AAGAGATCCCCAGGGGCTGGA 0.448 20 137 --- --- --- --- PASS RWDD1 51389 broad.mit.edu 37 6 116906012 116906012 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:116906012G>C uc003pxd.2 + 3 425 c.262G>C c.(262-264)GCA>CCA p.A88P RWDD1_uc003pxb.2_5'UTR|RWDD1_uc003pxc.2_5'UTR NM_015952 NP_057036 Q9H446 RWDD1_HUMAN RWD domain containing 1 isoform a 88 RWD. protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) AAAATTACTAGCATTACAGGT 0.284 4 38 --- --- --- --- PASS PNLDC1 154197 broad.mit.edu 37 6 160240058 160240058 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr6:160240058G>C uc003qsx.1 + 17 1476 c.1305G>C c.(1303-1305)GAG>GAC p.E435D PNLDC1_uc003qsy.1_Missense_Mutation_p.E446D NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 435 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) GGGTCAGCGAGCAGCAAGTCT 0.468 17 94 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11441494 11441494 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:11441494G>T uc003ssf.3 - 22 4591 c.4339C>A c.(4339-4341)CCG>ACG p.P1447T NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1447 Extracellular (Potential).|TSP type-1 15. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATAATCACCGGTCTGGATCTG 0.448 HNSCC(18;0.044) 22 72 --- --- --- --- PASS ETV1 2115 broad.mit.edu 37 7 13946086 13946086 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:13946086C>A uc011jxq.1 - 12 1818 c.1079G>T c.(1078-1080)GGC>GTC p.G360V ETV1_uc011jxn.1_Missense_Mutation_p.G320V|ETV1_uc011jxo.1_Missense_Mutation_p.G257V|ETV1_uc011jxp.1_Missense_Mutation_p.G302V|ETV1_uc003ssw.3_Missense_Mutation_p.G337V|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.G342V|ETV1_uc011jxs.1_Missense_Mutation_p.G342V|ETV1_uc010ktv.2_3'UTR NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 360 ETS. transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 AAATTCCATGCCTCGACCAGT 0.398 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 10 25 --- --- --- --- PASS ETV1 2115 broad.mit.edu 37 7 13946087 13946087 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:13946087C>A uc011jxq.1 - 12 1817 c.1078G>T c.(1078-1080)GGC>TGC p.G360C ETV1_uc011jxn.1_Missense_Mutation_p.G320C|ETV1_uc011jxo.1_Missense_Mutation_p.G257C|ETV1_uc011jxp.1_Missense_Mutation_p.G302C|ETV1_uc003ssw.3_Missense_Mutation_p.G337C|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.G342C|ETV1_uc011jxs.1_Missense_Mutation_p.G342C|ETV1_uc010ktv.2_3'UTR NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 360 ETS. transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 AATTCCATGCCTCGACCAGTC 0.398 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 9 25 --- --- --- --- PASS MACC1 346389 broad.mit.edu 37 7 20199737 20199737 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:20199737G>T uc003sus.3 - 5 556 c.247C>A c.(247-249)CAA>AAA p.Q83K MACC1_uc010kug.2_Missense_Mutation_p.Q83K NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 83 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 TTTCTTAGTTGAGTTATGTCA 0.353 7 59 --- --- --- --- PASS SP4 6671 broad.mit.edu 37 7 21469531 21469531 + Nonsense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:21469531C>T uc003sva.2 + 3 929 c.748C>T c.(748-750)CAG>TAG p.Q250* SP4_uc003svb.2_5'UTR NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 250 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 TCCTGGTACTCAGGCTCAAGT 0.478 13 63 --- --- --- --- PASS CRHR2 1395 broad.mit.edu 37 7 30695252 30695252 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:30695252C>T uc003tbn.2 - 10 1241 c.997G>A c.(997-999)GAC>AAC p.D333N CRHR2_uc010kvw.1_Missense_Mutation_p.D333N|CRHR2_uc010kvx.1_Missense_Mutation_p.D332N|CRHR2_uc010kvy.1_Missense_Mutation_p.D169N|CRHR2_uc003tbo.2_Missense_Mutation_p.D319N|CRHR2_uc003tbp.2_Missense_Mutation_p.D360N NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 333 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 GACAGGTCGTCCTCCCCGGGA 0.597 26 164 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31683478 31683478 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:31683478T>C uc003tcj.1 + 11 3487 c.2494T>C c.(2494-2496)TGC>CGC p.C832R CCDC129_uc011kad.1_Missense_Mutation_p.C842R|CCDC129_uc003tci.1_Missense_Mutation_p.C683R|CCDC129_uc011kae.1_Missense_Mutation_p.C858R|CCDC129_uc003tck.1_Missense_Mutation_p.C740R NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 832 Cys-rich. 0 CTGTAGGCACTGCCTGTGTTC 0.552 33 60 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43594272 43594272 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:43594272T>A uc003tid.1 + 29 5197 c.4592T>A c.(4591-4593)CTG>CAG p.L1531Q HECW1_uc011kbi.1_Missense_Mutation_p.L1497Q NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1531 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CTGAGATTACTGCAGTTTGTC 0.552 6 31 --- --- --- --- PASS SEPT14 346288 broad.mit.edu 37 7 55912272 55912272 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:55912272C>G uc003tqz.2 - 4 432 c.315G>C c.(313-315)TTG>TTC p.L105F NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 105 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAGTCAATTTCAACTGAACAT 0.313 531 241 --- --- --- --- PASS TYW1 55253 broad.mit.edu 37 7 66489962 66489962 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:66489962G>A uc003tvn.2 + 7 1086 c.937G>A c.(937-939)GAT>AAT p.D313N TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 313 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) TTCCATTGTTGATGTTGAAGA 0.418 32 657 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88966163 88966163 + Silent SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:88966163A>T uc011khi.1 + 4 4405 c.3867A>T c.(3865-3867)ACA>ACT p.T1289T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1289 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGCCCCCTACAGCATTTATTC 0.463 HNSCC(36;0.09) 40 171 --- --- --- --- PASS TAC1 6863 broad.mit.edu 37 7 97362024 97362024 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:97362024T>A uc003uop.3 + 2 346 c.100T>A c.(100-102)TGG>AGG p.W34R TAC1_uc003uoq.3_Missense_Mutation_p.W34R|TAC1_uc003uor.3_Missense_Mutation_p.W34R|TAC1_uc003uos.3_Missense_Mutation_p.W34R NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 34 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) CTGGTCCGACTGGTACGACAG 0.552 21 104 --- --- --- --- PASS ZNF789 285989 broad.mit.edu 37 7 99084537 99084537 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:99084537G>C uc003uqq.1 + 5 923 c.704G>C c.(703-705)GGG>GCG p.G235A ZNF789_uc010lfw.1_Missense_Mutation_p.G140A|ZNF789_uc003uqr.1_Missense_Mutation_p.G177A NM_213603 NP_998768 Q5FWF6 ZN789_HUMAN zinc finger protein 789 isoform 1 235 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AAGGTCTGTGGGCAAGCCTTC 0.438 26 197 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100389710 100389710 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:100389710C>A uc003uwj.2 + 42 7817 c.7652C>A c.(7651-7653)GCA>GAA p.A2551E ZAN_uc003uwk.2_Missense_Mutation_p.A2551E|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.Q544K NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2551 Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGGGTGCTGGCAGACCCCCAG 0.672 6 18 --- --- --- --- PASS PLOD3 8985 broad.mit.edu 37 7 100854987 100854987 + Missense_Mutation SNP C A A rs144508814 TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:100854987C>A uc003uyd.2 - 12 1699 c.1243G>T c.(1243-1245)GCC>TCC p.A415S PLOD3_uc010lhs.2_5'UTR NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 415 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) AGCATGGGGGCGATCACCTTC 0.701 5 7 --- --- --- --- PASS TRPV6 55503 broad.mit.edu 37 7 142572280 142572280 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:142572280G>C uc003wbx.1 - 11 1632 c.1416C>G c.(1414-1416)TTC>TTG p.F472L TRPV6_uc003wbw.1_Missense_Mutation_p.F258L|TRPV6_uc010lou.1_Missense_Mutation_p.F343L NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 472 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CTAGCATCTGGAATCCTCGGG 0.537 37 78 --- --- --- --- PASS OR6V1 346517 broad.mit.edu 37 7 142749511 142749511 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:142749511T>A uc011ksv.1 + 1 74 c.74T>A c.(73-75)CTG>CAG p.L25Q NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 25 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) CAGGCCCTTCTGTATGGCCCC 0.517 59 134 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147336310 147336310 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr7:147336310C>A uc003weu.1 + 13 2526 c.2010C>A c.(2008-2010)GAC>GAA p.D670E NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 670 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCTCCATGGACCAGATAAGTG 0.502 HNSCC(39;0.1) 11 48 --- --- --- --- PASS DEFA4 1669 broad.mit.edu 37 8 6794261 6794261 + Missense_Mutation SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:6794261A>G uc003wqu.1 - 2 212 c.161T>C c.(160-162)CTT>CCT p.L54P NM_001925 NP_001916 P12838 DEF4_HUMAN defensin, alpha 4 preproprotein 54 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space large_intestine(1) 1 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TGAAACCTGAAGAGCAGAGCT 0.348 21 78 --- --- --- --- PASS AMAC1L2 83650 broad.mit.edu 37 8 11189510 11189510 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:11189510T>C uc003wtp.1 + 1 1016 c.895T>C c.(895-897)TAT>CAT p.Y299H NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 299 DUF6 2.|Helical; (Potential). integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) ACTGCAGTATTATATGCTCCA 0.567 7 148 --- --- --- --- PASS KIF13B 23303 broad.mit.edu 37 8 29003964 29003964 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:29003964C>T uc003xhh.3 - 18 2177 c.2118G>A c.(2116-2118)GAG>GAA p.E706E KIF13B_uc003xhj.2_Silent_p.E603E NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 706 Potential. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TTTTATCCAGCTCCTCAGCAA 0.428 13 44 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41791206 41791206 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:41791206T>A uc010lxb.2 - 18 5076 c.4532A>T c.(4531-4533)CAG>CTG p.Q1511L MYST3_uc010lxc.2_Missense_Mutation_p.Q1511L|MYST3_uc003xon.3_Missense_Mutation_p.Q1511L NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1511 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TGGGCTGATCTGGGTGTAGCC 0.567 13 110 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52321593 52321593 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:52321593C>A uc003xqu.3 - 17 2692 c.2591G>T c.(2590-2592)CGC>CTC p.R864L PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 864 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGGGCTGGAGCGCGCGAAGAG 0.662 6 35 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87755727 87755727 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:87755727C>A uc003ydx.2 - 1 175 c.129G>T c.(127-129)CAG>CAT p.Q43H NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 43 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 GAGGACATACCTGTGCTGTGG 0.388 41 62 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113275901 113275901 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:113275901C>T uc003ynu.2 - 61 9988 c.9829G>A c.(9829-9831)GGT>AGT p.G3277S CSMD3_uc003yns.2_Missense_Mutation_p.G2479S|CSMD3_uc003ynt.2_Missense_Mutation_p.G3237S|CSMD3_uc011lhx.1_Missense_Mutation_p.G3108S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3277 Sushi 25.|Extracellular (Potential). 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 CTCCAGGTACCATTCCCTACA 0.403 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 25 --- --- --- --- PASS TAF2 6873 broad.mit.edu 37 8 120774748 120774748 + Nonsense_Mutation SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:120774748A>T uc003you.2 - 19 2735 c.2465T>A c.(2464-2466)TTA>TAA p.L822* NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 822 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATCAGGATTTAAGTTATCCAA 0.378 7 53 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164354 139164354 + Silent SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:139164354G>C uc003yuy.2 - 13 2535 c.2364C>G c.(2362-2364)ACC>ACG p.T788T FAM135B_uc003yux.2_Silent_p.T689T|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.T350T|FAM135B_uc003yvb.2_Silent_p.T350T NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 788 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTTGCTGCTTGGTGTCCGCAT 0.522 HNSCC(54;0.14) 10 92 --- --- --- --- PASS GPR20 2843 broad.mit.edu 37 8 142367828 142367828 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:142367828C>A uc003ywf.2 - 2 285 c.196G>T c.(196-198)GCA>TCA p.A66S NM_005293 NP_005284 Q99678 GPR20_HUMAN G protein-coupled receptor 20 66 Helical; Name=1; (Potential). integral to plasma membrane G-protein coupled receptor activity upper_aerodigestive_tract(1) 1 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) ACCAGCCCTGCCAGGAAGATG 0.652 8 34 --- --- --- --- PASS LRRC14 9684 broad.mit.edu 37 8 145745721 145745721 + Silent SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr8:145745721A>G uc003zdk.1 + 3 575 c.429A>G c.(427-429)GTA>GTG p.V143V RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Silent_p.V143V|LRRC14_uc003zdo.2_5'Flank NM_014665 NP_055480 Q15048 LRC14_HUMAN leucine rich repeat containing 14 143 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGCTGCCGTAGCTCGCACAT 0.662 9 88 --- --- --- --- PASS ADAMTS13 11093 broad.mit.edu 37 9 136307599 136307599 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr9:136307599G>C uc004cdv.3 + 17 2492 c.2048G>C c.(2047-2049)CGG>CCG p.R683P ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R683P|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R652P|ADAMTS13_uc004cdw.3_Missense_Mutation_p.R683P|ADAMTS13_uc004cdx.3_Missense_Mutation_p.R652P|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.3_Missense_Mutation_p.R353P|ADAMTS13_uc004cds.1_Missense_Mutation_p.R208P|ADAMTS13_uc004cdr.1_Intron NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 683 Spacer.|TSP type-1 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCTAAGCCACGGCAGGCCTGG 0.637 22 60 --- --- --- --- PASS USP6NL 9712 broad.mit.edu 37 10 11505690 11505690 + Nonsense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr10:11505690C>A uc001ikt.3 - 15 1558 c.1237G>T c.(1237-1239)GAG>TAG p.E413* USP6NL_uc001iks.1_Nonsense_Mutation_p.E430* NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 413 intracellular Rab GTPase activator activity 0 GGGGAGTGCTCGTGCCTCCTG 0.672 11 27 --- --- --- --- PASS FAM188A 80013 broad.mit.edu 37 10 15880243 15880243 + Missense_Mutation SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr10:15880243A>G uc001iod.1 - 5 666 c.445T>C c.(445-447)TTT>CTT p.F149L FAM188A_uc001ioe.1_Intron|FAM188A_uc001iof.1_Missense_Mutation_p.F149L NM_024948 NP_079224 Q9H8M7 F188A_HUMAN chromosome 10 open reading frame 97 149 apoptosis nucleus calcium ion binding ovary(1) 1 AATGCATGAAATCGCTCAAAG 0.378 6 56 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17156040 17156040 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr10:17156040C>T uc001ioo.2 - 8 921 c.869G>A c.(868-870)GGG>GAG p.G290E NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 290 EGF-like 3; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGACAGGCCCCACAGTAGAA 0.552 3 12 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37419161 37419161 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr10:37419161C>A uc001iza.1 + 3 296 c.197C>A c.(196-198)GCA>GAA p.A66E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 122 ANK 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GAGGCTTGTGCAAATATTCTG 0.323 5 35 --- --- --- --- PASS FAM178A 55719 broad.mit.edu 37 10 102689090 102689090 + Nonsense_Mutation SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr10:102689090A>T uc001krt.3 + 7 2601 c.2059A>T c.(2059-2061)AAG>TAG p.K687* FAM178A_uc001krs.2_Nonsense_Mutation_p.K687* NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 687 0 TGAACTGCAGAAGCAACTACA 0.358 7 22 --- --- --- --- PASS MGEA5 10724 broad.mit.edu 37 10 103569992 103569992 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr10:103569992G>C uc001ktv.2 - 4 872 c.429C>G c.(427-429)ATC>ATG p.I143M MGEA5_uc010qqe.1_Missense_Mutation_p.I143M|MGEA5_uc009xws.2_Missense_Mutation_p.I143M|MGEA5_uc001ktw.2_Missense_Mutation_p.I143M|MGEA5_uc009xwt.2_Intron|MGEA5_uc010qqf.1_Intron NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 143 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TAGAAAAAGTGATATCCAATC 0.373 42 97 --- --- --- --- PASS DCLRE1A 9937 broad.mit.edu 37 10 115601242 115601242 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr10:115601242C>G uc001law.2 - 7 3661 c.2743G>C c.(2743-2745)GAA>CAA p.E915Q NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 915 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) GAATTAATTTCTGGTATATTG 0.363 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 19 112 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118196342 118196342 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr10:118196342C>T uc001lcl.3 + 2 270 c.169C>T c.(169-171)CTG>TTG p.L57L NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 57 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) CACTCGTTTCCTGCTCTACAC 0.408 23 104 --- --- --- --- PASS EIF3A 8661 broad.mit.edu 37 10 120801982 120801982 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr10:120801982G>T uc001ldu.2 - 19 3196 c.3050C>A c.(3049-3051)CCA>CAA p.P1017Q EIF3A_uc010qsu.1_Missense_Mutation_p.P983Q|EIF3A_uc009xzg.1_Missense_Mutation_p.P56Q NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1017 Asp-rich.|10.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TCGTCTAGGTGGTCTGTCATC 0.582 30 182 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1016874 1016874 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:1016874C>A uc001lsw.2 - 31 5978 c.5927G>T c.(5926-5928)AGT>ATT p.S1976I NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1976 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGAGAAGGGACTGCTCCCTGT 0.587 24 562 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1018760 1018760 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:1018760G>T uc001lsw.2 - 31 4092 c.4041C>A c.(4039-4041)ACC>ACA p.T1347T NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1347 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTTCCTGATTGGTCGATTTTG 0.542 26 69 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1018761 1018761 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:1018761G>A uc001lsw.2 - 31 4091 c.4040C>T c.(4039-4041)ACC>ATC p.T1347I NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1347 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTCCTGATTGGTCGATTTTGC 0.542 26 72 --- --- --- --- PASS CARS 833 broad.mit.edu 37 11 3026612 3026612 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:3026612C>G uc001lxh.2 - 19 2026 c.1952G>C c.(1951-1953)AGA>ACA p.R651T CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Missense_Mutation_p.R641T|CARS_uc001lxf.2_Missense_Mutation_p.R734T|CARS_uc001lxg.2_Missense_Mutation_p.R651T|CARS_uc010qxo.1_Missense_Mutation_p.R734T|CARS_uc010qxp.1_Missense_Mutation_p.R664T NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 651 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CTTTTCTTCTCTCTCTTTTAA 0.398 T ALK ALCL 23 58 --- --- --- --- PASS OR51I1 390063 broad.mit.edu 37 11 5461847 5461847 + Nonsense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:5461847C>A uc010qze.1 - 1 898 c.898G>T c.(898-900)GAG>TAG p.E300* HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGCGGATCTCCTTGGTTTTC 0.473 37 78 --- --- --- --- PASS TTC17 55761 broad.mit.edu 37 11 43418950 43418950 + Missense_Mutation SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:43418950A>T uc001mxi.2 + 7 841 c.827A>T c.(826-828)CAC>CTC p.H276L TTC17_uc001mxh.2_Missense_Mutation_p.H276L|TTC17_uc010rfj.1_Missense_Mutation_p.H219L|TTC17_uc001mxj.2_Missense_Mutation_p.H46L NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 276 binding ovary(5) 5 CACAGAGCACACTTCTCTGCT 0.448 39 134 --- --- --- --- PASS TTC17 55761 broad.mit.edu 37 11 43427351 43427351 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:43427351C>A uc001mxi.2 + 13 1625 c.1611C>A c.(1609-1611)AGC>AGA p.S537R TTC17_uc001mxh.2_Missense_Mutation_p.S537R|TTC17_uc010rfj.1_Missense_Mutation_p.S480R|TTC17_uc001mxj.2_Missense_Mutation_p.S307R NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 537 binding ovary(5) 5 ACGAACTCAGCAGTGATGATT 0.398 28 105 --- --- --- --- PASS OR4C13 283092 broad.mit.edu 37 11 49974362 49974362 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:49974362T>A uc010rhz.1 + 1 388 c.388T>A c.(388-390)TAT>AAT p.Y130N NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 GCCCTTGCACTATACCACCGT 0.468 24 75 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135383 55135383 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:55135383C>T uc010rif.1 + 1 24 c.24C>T c.(22-24)CTC>CTT p.L8L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CAAATAATCTCAAATTTATCA 0.413 9 26 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468238 56468238 + Silent SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:56468238C>A uc010rjn.1 + 1 375 c.375C>A c.(373-375)ATC>ATA p.I125I NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACGTGGCCATCTCCAAGCCCC 0.522 11 153 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468590 56468590 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:56468590C>A uc010rjn.1 + 1 727 c.727C>A c.(727-729)CAC>AAC p.H243N NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGCTCCTCCCACCTGACCTC 0.473 47 245 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468598 56468598 + Silent SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:56468598C>A uc010rjn.1 + 1 735 c.735C>A c.(733-735)ACC>ACA p.T245T NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCCACCTGACCTCTGTCACTT 0.458 26 287 --- --- --- --- PASS OR5B2 390190 broad.mit.edu 37 11 58190455 58190455 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:58190455C>A uc010rkg.1 - 1 280 c.280G>T c.(280-282)GCA>TCA p.A94S NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) ACAGCACATGCATTGTAGGAG 0.502 29 84 --- --- --- --- PASS NAA40 79829 broad.mit.edu 37 11 63713361 63713361 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:63713361G>C uc009yoz.2 + 2 183 c.56G>C c.(55-57)CGA>CCA p.R19P NAA40_uc010rmw.1_5'UTR|NAA40_uc010rmx.1_5'UTR NM_024771 NP_079047 Q86UY6 NAA40_HUMAN N-acetyltransferase 11 19 N-acetyltransferase activity 0 TTGGAGGAGCGAGCAGCCATG 0.532 OREG0021041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 79 --- --- --- --- PASS KCNK7 10089 broad.mit.edu 37 11 65360632 65360632 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:65360632G>A uc001oes.2 - 3 992 c.768C>T c.(766-768)TTC>TTT p.F256F KCNK7_uc001oeq.2_3'UTR|KCNK7_uc001oer.2_3'UTR|KCNK7_uc001oeu.2_3'UTR NM_033347 NP_203133 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 isoform 256 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 GCAGCTCAGAGAAGGTCTCCA 0.607 5 17 --- --- --- --- PASS KCTD21 283219 broad.mit.edu 37 11 77885471 77885471 + Nonsense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:77885471G>A uc001ozb.2 - 2 205 c.130C>T c.(130-132)CAG>TAG p.Q44* NM_001029859 NP_001025030 Q4G0X4 KCD21_HUMAN potassium channel tetramerisation domain 44 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) CAGTTGCCCTGGCTGTCCCTC 0.577 9 36 --- --- --- --- PASS NAALAD2 10003 broad.mit.edu 37 11 89891312 89891312 + Splice_Site SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:89891312G>A uc001pdf.3 + 7 906 c.797_splice c.e7-1 p.E266_splice NAALAD2_uc009yvx.2_Splice_Site_p.E266_splice|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_Splice_Site_p.E266_splice|NAALAD2_uc001pde.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GATTTTTTTAGAATACACTTT 0.219 31 104 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92085823 92085823 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:92085823C>A uc001pdj.3 + 1 562 c.545C>A c.(544-546)GCA>GAA p.A182E NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 182 Cadherin 2.|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) CAGGTGACTGCAACAGACGCA 0.408 TCGA Ovarian(4;0.039) 21 80 --- --- --- --- PASS ALKBH8 91801 broad.mit.edu 37 11 107424703 107424703 + Silent SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:107424703C>G uc010rvr.1 - 4 444 c.369G>C c.(367-369)GTG>GTC p.V123V ALKBH8_uc001pjk.2_5'Flank|ALKBH8_uc010rvq.1_Intron|ALKBH8_uc009yxp.2_Silent_p.V123V|ALKBH8_uc001pjl.2_RNA NM_138775 NP_620130 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 123 response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) CCTTCCACTGCACTATGGGAA 0.368 11 41 --- --- --- --- PASS RDX 5962 broad.mit.edu 37 11 110134937 110134937 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:110134937T>A uc001pku.2 - 5 525 c.215A>T c.(214-216)AAA>ATA p.K72I RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.K72I|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Missense_Mutation_p.K40I|RDX_uc010rwe.1_Intron NM_002906 NP_002897 P35241 RADI_HUMAN radixin 72 FERM. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding 0 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) AGGATTCTCTTTTTTAACATC 0.299 9 28 --- --- --- --- PASS SCN3B 55800 broad.mit.edu 37 11 123516385 123516385 + Silent SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:123516385C>G uc001pza.1 - 3 536 c.129G>C c.(127-129)CTG>CTC p.L43L SCN3B_uc001pzb.1_Silent_p.L43L NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 43 Ig-like C2-type.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) AGATGCAGCGCAGCTTCATGG 0.577 24 94 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 131781460 131781460 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:131781460G>T uc001qgp.2 + 1 749 c.85G>T c.(85-87)GTG>TTG p.V29L NTM_uc001qgm.2_Missense_Mutation_p.V29L|NTM_uc010sch.1_Missense_Mutation_p.V20L|NTM_uc010sci.1_Missense_Mutation_p.V29L|NTM_uc010scj.1_5'UTR|NTM_uc001qgo.2_Missense_Mutation_p.V29L|NTM_uc001qgq.2_Missense_Mutation_p.V29L NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 29 cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 ACCCACAGGAGTGCCCGTGCG 0.617 OREG0021537 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 79 --- --- --- --- PASS KCNA6 3742 broad.mit.edu 37 12 4919972 4919972 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:4919972G>T uc001qng.2 + 1 1631 c.765G>T c.(763-765)GGG>GGT p.G255G NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 255 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 GTACTCTTGGGGGCTCCTTCT 0.557 HNSCC(72;0.22) 28 92 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6131150 6131150 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:6131150G>T uc001qnn.1 - 27 3840 c.3590C>A c.(3589-3591)CCA>CAA p.P1197Q VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1197 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CTCACACACTGGACAGTCTTC 0.512 47 167 --- --- --- --- PASS EPS8 2059 broad.mit.edu 37 12 15813567 15813567 + Silent SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:15813567A>G uc009zif.2 - 10 1012 c.918T>C c.(916-918)GGT>GGC p.G306G EPS8_uc001rdb.2_Silent_p.G306G|EPS8_uc009zig.2_Silent_p.G46G|EPS8_uc010shv.1_Silent_p.G46G NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 306 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) CTTTCCTTTTACCTTTCTTGT 0.294 22 81 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20801620 20801620 + Splice_Site SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:20801620A>T uc001reh.1 + 13 2588 c.2566_splice c.e13-2 p.A856_splice NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TTATTTGCCTAGGCGGTGCTA 0.348 19 82 --- --- --- --- PASS CAPRIN2 65981 broad.mit.edu 37 12 30873820 30873820 + Silent SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:30873820T>C uc001rji.1 - 12 2824 c.2073A>G c.(2071-2073)TCA>TCG p.S691S CAPRIN2_uc001rjf.1_Silent_p.S488S|CAPRIN2_uc001rjg.1_Silent_p.S358S|CAPRIN2_uc001rjh.1_Silent_p.S691S|CAPRIN2_uc001rjj.1_Silent_p.S358S|CAPRIN2_uc001rjk.3_Silent_p.S691S|CAPRIN2_uc001rjl.3_Intron|CAPRIN2_uc001rjm.1_Intron NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 691 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) AGCAAGCATTTGAGCTACAAG 0.398 33 100 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43826519 43826519 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:43826519C>A uc010skx.1 - 20 2816 c.2816G>T c.(2815-2817)GGA>GTA p.G939V ADAMTS20_uc001rno.1_Missense_Mutation_p.G93V|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G93V NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 939 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AACAGTCTGTCCTTCATGAAT 0.423 30 130 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43826520 43826520 + Nonsense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:43826520C>A uc010skx.1 - 20 2815 c.2815G>T c.(2815-2817)GGA>TGA p.G939* ADAMTS20_uc001rno.1_Nonsense_Mutation_p.G93*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.G93* NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 939 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACAGTCTGTCCTTCATGAATG 0.423 28 137 --- --- --- --- PASS TWF1 5756 broad.mit.edu 37 12 44196114 44196114 + Missense_Mutation SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:44196114A>G uc001rob.2 - 3 387 c.359T>C c.(358-360)ATT>ACT p.I120T TWF1_uc001rnz.2_5'UTR|TWF1_uc001roa.2_Missense_Mutation_p.I120T|TWF1_uc001roc.2_5'UTR NM_002822 NP_002813 Q12792 TWF1_HUMAN twinfilin 1 86 ADF-H 1. actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity stomach(1) 1 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) AGACCATGCAATGAATATCCA 0.318 26 76 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49445464 49445464 + Nonsense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:49445464C>A uc001rta.3 - 10 2002 c.2002G>T c.(2002-2004)GAA>TAA p.E668* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 668 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AAGGGAGATTCCTCAGGCGGT 0.642 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 11 77 --- --- --- --- PASS ARHGAP9 64333 broad.mit.edu 37 12 57866396 57866396 + Silent SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:57866396C>A uc001sod.2 - 21 2563 c.2370G>T c.(2368-2370)CGG>CGT p.R790R ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Silent_p.R516R|ARHGAP9_uc001soa.2_Silent_p.R389R|ARHGAP9_uc001sob.2_3'UTR|ARHGAP9_uc001soc.2_Silent_p.R700R NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 719 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) CCTGCTCTGGCCGAAACAGGG 0.557 16 57 --- --- --- --- PASS AGAP2 116986 broad.mit.edu 37 12 58125404 58125404 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:58125404C>T uc001spq.2 - 9 1975 c.1975G>A c.(1975-1977)GAG>AAG p.E659K AGAP2_uc001spp.2_Missense_Mutation_p.E659K|AGAP2_uc001spr.2_Missense_Mutation_p.E323K NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 659 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 CTTCGTTTCTCGGAGTCACTA 0.522 13 68 --- --- --- --- PASS ZDHHC17 23390 broad.mit.edu 37 12 77202834 77202834 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:77202834C>T uc001syk.1 + 4 495 c.332C>T c.(331-333)TCG>TTG p.S111L ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 111 ANK 1.|Cytoplasmic (Potential). lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 TACTATATTTCGAAAGGTGCT 0.289 6 24 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78362453 78362453 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:78362453G>T uc001syp.2 + 5 815 c.642G>T c.(640-642)CAG>CAT p.Q214H NAV3_uc001syo.2_Missense_Mutation_p.Q214H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 214 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAGCCAGCCAGGCCAAAACCC 0.443 HNSCC(70;0.22) 9 32 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81747098 81747098 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:81747098G>T uc001szo.1 - 17 1955 c.1794C>A c.(1792-1794)CAC>CAA p.H598Q PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 524 ovary(3)|lung(2)|pancreas(1) 6 TATTCCACTCGTGATCCCCAA 0.358 7 42 --- --- --- --- PASS CEP290 80184 broad.mit.edu 37 12 88471624 88471624 + Missense_Mutation SNP T G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:88471624T>G uc001tar.2 - 40 5780 c.5436A>C c.(5434-5436)GAA>GAC p.E1812D CEP290_uc001taq.2_Missense_Mutation_p.E872D NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1812 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 TTAGTGAGTTTTCTCTGTTTT 0.254 4 15 --- --- --- --- PASS SOCS2 8835 broad.mit.edu 37 12 93968918 93968918 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:93968918T>A uc001tcw.1 + 3 1150 c.560T>A c.(559-561)CTA>CAA p.L187Q SOCS2_uc001tcx.1_Missense_Mutation_p.L187Q|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.L187Q|SOCS2_uc001tcz.2_3'UTR NM_003877 NP_003868 O14508 SOCS2_HUMAN suppressor of cytokine signaling-2 187 SOCS box. anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity lung(1) 1 CCAACAAGACTAAAAGATTAC 0.403 8 44 --- --- --- --- PASS NUP37 79023 broad.mit.edu 37 12 102471172 102471172 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:102471172C>A uc001tjc.2 - 6 715 c.650G>T c.(649-651)TGC>TTC p.C217F NUP37_uc009zub.1_Missense_Mutation_p.C217F NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 217 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding ovary(1) 1 GTTTTTTAAGCACCAGTGTGC 0.393 14 112 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 103984805 103984805 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:103984805G>A uc001tjw.2 + 2 398 c.212G>A c.(211-213)TGC>TAC p.C71Y NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 71 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GTTCGAGATTGCAGGTACTCA 0.468 30 81 --- --- --- --- PASS TBX5 6910 broad.mit.edu 37 12 114804147 114804147 + Missense_Mutation SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:114804147A>T uc001tvo.2 - 8 1300 c.805T>A c.(805-807)TCC>ACC p.S269T TBX5_uc001tvp.2_Missense_Mutation_p.S269T|TBX5_uc001tvq.2_Missense_Mutation_p.S219T|TBX5_uc010syv.1_Missense_Mutation_p.S269T NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 269 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CTGTGGTTGGAGGCCACTTTT 0.522 29 85 --- --- --- --- PASS RPLP0 6175 broad.mit.edu 37 12 120637201 120637201 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:120637201G>A uc001txp.2 - 3 379 c.142C>T c.(142-144)CGC>TGC p.R48C RPLP0_uc001txq.2_Missense_Mutation_p.R48C|RPLP0_uc001txr.2_Missense_Mutation_p.R48C|uc001txs.1_5'Flank NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 48 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCTTCCCGCGAAGGGACATG 0.517 11 68 --- --- --- --- PASS CLIP1 6249 broad.mit.edu 37 12 122803851 122803851 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:122803851C>T uc001ucg.1 - 17 3400 c.3294G>A c.(3292-3294)ATG>ATA p.M1098I CLIP1_uc001uch.1_Missense_Mutation_p.M1087I|CLIP1_uc001uci.1_Missense_Mutation_p.M1052I|CLIP1_uc001ucj.1_Missense_Mutation_p.M673I NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1098 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TCTCTTTGGTCATCTGTTCCA 0.433 6 45 --- --- --- --- PASS SCARB1 949 broad.mit.edu 37 12 125302175 125302175 + Missense_Mutation SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:125302175A>T uc001ugo.3 - 2 458 c.205T>A c.(205-207)TTC>ATC p.F69I SCARB1_uc001ugn.3_Missense_Mutation_p.F69I|SCARB1_uc001ugm.3_Missense_Mutation_p.F69I|SCARB1_uc010tbd.1_Missense_Mutation_p.F69I|SCARB1_uc010tbe.1_Missense_Mutation_p.F28I|SCARB1_uc001ugp.3_Missense_Mutation_p.F69I NM_005505 NP_005496 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 isoform 1 69 Extracellular (Potential). adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity kidney(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) ACGTCAAAGAAGTAGACGGAG 0.587 32 69 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130921587 130921587 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:130921587C>A uc001uil.2 - 10 2019 c.1855G>T c.(1855-1857)GCC>TCC p.A619S RIMBP2_uc001uim.2_Missense_Mutation_p.A527S|RIMBP2_uc001uin.1_Missense_Mutation_p.A278S NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 619 Pro-rich. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCCATCCTGGCGTGGGGACCC 0.667 3 36 --- --- --- --- PASS PXMP2 5827 broad.mit.edu 37 12 133272599 133272599 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr12:133272599C>T uc001ukt.2 + 3 431 c.366C>T c.(364-366)CTC>CTT p.L122L PGAM5_uc010tbr.1_Intron NM_018663 NP_061133 Q9NR77 PXMP2_HUMAN peroxisomal membrane protein 2, 22kDa 122 Helical; (Potential). integral to membrane|peroxisomal membrane protein binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) CGGCCTTCCTCATGTTGTTCT 0.478 31 84 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29608239 29608239 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr13:29608239G>T uc001usl.3 + 2 2511 c.2453G>T c.(2452-2454)AGT>ATT p.S818I NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 808 Sufficient for interaction with KIF2C.|Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 ACAGCCACCAGTCTCTACAGT 0.473 20 35 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61986120 61986120 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr13:61986120C>A uc001vid.3 - 2 2476 c.2112G>T c.(2110-2112)CAG>CAT p.Q704H PCDH20_uc010thj.1_Missense_Mutation_p.Q704H NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 677 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AGGAGCTTTGCTGCTCTCTGT 0.463 13 126 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77740591 77740591 + Silent SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr13:77740591G>C uc001vkf.2 - 42 6190 c.6099C>G c.(6097-6099)GTC>GTG p.V2033V MYCBP2_uc010aev.2_Silent_p.V1437V NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2033 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) GAACAGTTCTGACAGGAATCA 0.398 23 89 --- --- --- --- PASS ZNF219 51222 broad.mit.edu 37 14 21558846 21558846 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr14:21558846G>C uc001vzr.2 - 5 2439 c.2018C>G c.(2017-2019)GCT>GGT p.A673G ZNF219_uc001vzs.2_Missense_Mutation_p.A673G|ZNF219_uc010aik.1_Missense_Mutation_p.A673G NM_016423 NP_057507 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 673 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1) 1 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) GCGGCCCCTAGCCCGGCGGCT 0.706 10 13 --- --- --- --- PASS OR10G3 26533 broad.mit.edu 37 14 22038724 22038724 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr14:22038724G>T uc010tmb.1 - 1 152 c.152C>A c.(151-153)GCA>GAA p.A51E NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, 51 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) CCTTGGGTCTGCCCAGACAGT 0.468 16 26 --- --- --- --- PASS SLC7A8 23428 broad.mit.edu 37 14 23596484 23596484 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr14:23596484T>C uc001wiz.2 - 11 2236 c.1510A>G c.(1510-1512)ACA>GCA p.T504A SLC7A8_uc001wiw.2_Missense_Mutation_p.T121A|SLC7A8_uc001wix.2_Missense_Mutation_p.T301A|SLC7A8_uc010tnk.1_Missense_Mutation_p.T280A|SLC7A8_uc010tnl.1_Missense_Mutation_p.T399A|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Missense_Mutation_p.D286G NM_012244 NP_036376 Q9UHI5 LAT2_HUMAN solute carrier family 7 (cationic amino acid 504 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity ovary(1) 1 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) GCCTCCTCTGTCCCTGAGCCC 0.612 26 48 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47504448 47504448 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr14:47504448T>C uc001wwj.3 - 8 1574 c.1378A>G c.(1378-1380)ACA>GCA p.T460A MDGA2_uc001wwi.3_Missense_Mutation_p.T231A|MDGA2_uc010ani.2_Missense_Mutation_p.T20A NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 460 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 AGTTCTATTGTGTCTCCTTCT 0.388 50 54 --- --- --- --- PASS KIAA0831 22863 broad.mit.edu 37 14 55878324 55878324 + Nonsense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr14:55878324C>A uc001xbx.1 - 1 253 c.217G>T c.(217-219)GAG>TAG p.E73* FBXO34_uc001xbv.2_Intron NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Barkor 73 Potential. autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding 0 CCGTACCTCTCCCGGTCGCGG 0.672 19 10 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65246624 65246624 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr14:65246624C>T uc001xht.2 - 20 4346 c.4292G>A c.(4291-4293)CGA>CAA p.R1431Q SPTB_uc001xhr.2_Missense_Mutation_p.R1431Q|SPTB_uc001xhs.2_Missense_Mutation_p.R1431Q|SPTB_uc001xhu.2_Missense_Mutation_p.R1431Q|SPTB_uc010aqi.2_Missense_Mutation_p.R92Q NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1431 Spectrin 11. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTCCTCTTTTCGCACATTCAC 0.483 52 63 --- --- --- --- PASS FLVCR2 55640 broad.mit.edu 37 14 76101273 76101273 + Silent SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr14:76101273A>G uc001xrs.2 + 5 1417 c.1041A>G c.(1039-1041)GGA>GGG p.G347G FLVCR2_uc010tvd.1_Silent_p.G142G NM_017791 NP_060261 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular 347 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity 0 BRCA - Breast invasive adenocarcinoma(234;0.029) TGAATGCTGGAAGAATTGGCC 0.527 38 49 --- --- --- --- PASS KIF26A 26153 broad.mit.edu 37 14 104643061 104643061 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr14:104643061G>T uc001yos.3 + 12 3936 c.3936G>T c.(3934-3936)ACG>ACT p.T1312T NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 1312 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GTGCCACCACGCTGGGTGTGA 0.701 3 8 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106791099 106791099 + RNA SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr14:106791099C>T uc010tyt.1 - 386 c.14519G>A Parts of antibodies, mostly variable regions. 0 GATGGTGAATCGGCCCTTCAC 0.507 37 616 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25971181 25971181 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr15:25971181C>A uc010ayu.2 - 5 1002 c.896G>T c.(895-897)CGC>CTC p.R299L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 299 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) CAGCTTGCTGCGCTTGTAGCG 0.547 14 38 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28419575 28419575 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr15:28419575C>G uc001zbj.2 - 65 10129 c.10023G>C c.(10021-10023)CAG>CAC p.Q3341H NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3341 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTCTTGCAGTCTGGAAGAGGA 0.493 13 21 --- --- --- --- PASS PIAS1 8554 broad.mit.edu 37 15 68468058 68468058 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr15:68468058C>T uc002aqz.2 + 10 1349 c.1253C>T c.(1252-1254)TCA>TTA p.S418L PIAS1_uc002ara.2_Missense_Mutation_p.S26L NM_016166 NP_057250 O75925 PIAS1_HUMAN protein inhibitor of activated STAT, 1 418 androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1) 2 CCGATGAGATCAAAAAAGGAA 0.413 3 21 --- --- --- --- PASS ADAMTS7 11173 broad.mit.edu 37 15 79066580 79066580 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr15:79066580C>G uc002bej.3 - 13 2150 c.1939G>C c.(1939-1941)GCC>CCC p.A647P ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.A647P NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 647 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 TCGACCACGGCGTCCCGCAGC 0.622 10 8 --- --- --- --- PASS ZFAND6 54469 broad.mit.edu 37 15 80423536 80423536 + Missense_Mutation SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr15:80423536A>G uc002bfe.1 + 6 690 c.379A>G c.(379-381)ACA>GCA p.T127A ZFAND6_uc002bff.1_Missense_Mutation_p.T127A|ZFAND6_uc002bfg.1_Missense_Mutation_p.T115A|ZFAND6_uc002bfh.1_Missense_Mutation_p.T127A|ZFAND6_uc002bfi.1_Missense_Mutation_p.T127A NM_019006 NP_061879 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 127 DNA binding|zinc ion binding 0 AGTATCAGACACAGCACAGCA 0.398 10 94 --- --- --- --- PASS DCI 1632 broad.mit.edu 37 16 2296982 2296982 + Missense_Mutation SNP C T T rs72766670 by1000genomes TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:2296982C>T uc002cpr.2 - 3 208 c.172G>A c.(172-174)GCT>ACT p.A58T DCI_uc002cps.2_Missense_Mutation_p.A58T NM_001919 NP_001910 P42126 ECI1_HUMAN dodecenoyl-Coenzyme A delta isomerase precursor 58 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity 0 TTCATCACAGCGACCCCTAAT 0.507 9 18 --- --- --- --- PASS XYLT1 64131 broad.mit.edu 37 16 17352949 17352949 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:17352949C>A uc002dfa.2 - 3 894 c.809G>T c.(808-810)CGT>CTT p.R270L NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 270 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GGACTTAGCACGGGACAGGGC 0.602 15 64 --- --- --- --- PASS SPNS1 83985 broad.mit.edu 37 16 28993679 28993679 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:28993679T>C uc010vdi.1 + 9 1108 c.968T>C c.(967-969)CTC>CCC p.L323P uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.L250P|SPNS1_uc002dsa.2_Missense_Mutation_p.L323P|SPNS1_uc002drz.2_Missense_Mutation_p.L271P|SPNS1_uc010byp.2_Missense_Mutation_p.L249P|SPNS1_uc010byq.1_Missense_Mutation_p.L255P|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 323 Helical; (Potential). lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 ACCCCTAGTCTCATCTTTGGA 0.637 18 33 --- --- --- --- PASS C16orf92 146378 broad.mit.edu 37 16 30035111 30035111 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:30035111G>T uc002dvs.2 + 2 215 c.194G>T c.(193-195)AGA>ATA p.R65I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.R43I NM_001109660 NP_001103130 Q96LL3 CP092_HUMAN hypothetical protein LOC146378 isoform 2 65 integral to membrane 0 TTCTTAGACAGACCTGACTTC 0.552 6 23 --- --- --- --- PASS SEPHS2 22928 broad.mit.edu 37 16 30456053 30456053 + Silent SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:30456053T>C uc010ves.1 - 2 1172 c.996A>G c.(994-996)CAA>CAG p.Q332Q SEPHS2_uc002dyh.1_Silent_p.Q275Q|SEPHS2_uc010vet.1_Silent_p.Q214Q NM_012248 NP_036380 Q99611 SPS2_HUMAN selenophosphate synthetase 2 332 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(2) 2 CATTTCTTTGTTGTTTTGCAA 0.458 31 48 --- --- --- --- PASS NLRC5 84166 broad.mit.edu 37 16 57060632 57060632 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:57060632G>T uc002ekk.1 + 6 2002 c.1777G>T c.(1777-1779)GCT>TCT p.A593S NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.A398S|NLRC5_uc002ekl.2_Missense_Mutation_p.A398S|NLRC5_uc002ekm.2_Missense_Mutation_p.A398S|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 593 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) TGCCAAGCAGGCTGCTGTAGT 0.617 15 76 --- --- --- --- PASS CDH11 1009 broad.mit.edu 37 16 65026887 65026887 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:65026887C>T uc002eoi.2 - 5 1008 c.574G>A c.(574-576)GGA>AGA p.G192R CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.G192R|CDH11_uc010vin.1_Missense_Mutation_p.G66R NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 192 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GCGCTATTTCCATAAGTGGGG 0.408 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 21 115 --- --- --- --- PASS GFOD2 81577 broad.mit.edu 37 16 67709423 67709423 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:67709423C>A uc002eub.2 - 3 1088 c.793G>T c.(793-795)GCC>TCC p.A265S GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.A160S NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 265 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) TAGAGGTCGGCTCCCCGGGCG 0.622 12 71 --- --- --- --- PASS TMCO7 79613 broad.mit.edu 37 16 68936358 68936358 + Silent SNP A C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:68936358A>C uc002ewi.3 + 9 1630 c.1618A>C c.(1618-1620)AGA>CGA p.R540R NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 540 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) GTGTCAGTTTAGAGTTGCCAC 0.478 35 215 --- --- --- --- PASS CALB2 794 broad.mit.edu 37 16 71392738 71392738 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:71392738G>A uc002faa.3 + 1 113 c.43G>A c.(43-45)GAG>AAG p.E15K CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.E15K NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 15 calcium ion binding 0 Ovarian(137;0.125) GCACCTGGCCGAGCTGACGGC 0.662 8 26 --- --- --- --- PASS RFWD3 55159 broad.mit.edu 37 16 74670477 74670477 + Splice_Site SNP T G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:74670477T>G uc002fda.2 - 8 1293 c.1195_splice c.e8-1 p.D399_splice RFWD3_uc010cgq.2_Splice_Site_p.D399_splice NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 TTGCAAGTCCTAAAATGAAAA 0.383 13 45 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76572187 76572187 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:76572187T>C uc002feu.1 + 21 3555 c.3170T>C c.(3169-3171)TTT>TCT p.F1057S CNTNAP4_uc002fev.1_Missense_Mutation_p.F921S|CNTNAP4_uc010chb.1_Missense_Mutation_p.F984S|CNTNAP4_uc002fex.1_Missense_Mutation_p.F1060S NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1057 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TTGCTGCTTTTTGTGAGCTCC 0.388 40 187 --- --- --- --- PASS IRF8 3394 broad.mit.edu 37 16 85948115 85948115 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:85948115C>A uc002fjh.2 + 6 647 c.590C>A c.(589-591)GCG>GAG p.A197E IRF8_uc010chp.2_Intron NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 197 A -> T (in a breast cancer sample; somatic mutation). interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.A197T(1) breast(2)|ovary(1) 3 Prostate(104;0.0771) ACCTACGACGCGCACCATTCA 0.602 35 39 --- --- --- --- PASS ANKRD11 29123 broad.mit.edu 37 16 89352526 89352526 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr16:89352526C>T uc002fmx.1 - 8 1274 c.813G>A c.(811-813)CTG>CTA p.L271L ANKRD11_uc002fmy.1_Silent_p.L271L|ANKRD11_uc002fnc.1_Silent_p.L271L|ANKRD11_uc002fnb.1_Silent_p.L228L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 271 ANK 4. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGGCCACTTTCAGCGGCGTCT 0.602 34 216 --- --- --- --- PASS SCARF1 8578 broad.mit.edu 37 17 1542992 1542992 + Nonsense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr17:1542992G>C uc002fsz.1 - 7 1234 c.1184C>G c.(1183-1185)TCA>TGA p.S395* SCARF1_uc002fsy.1_Nonsense_Mutation_p.S395*|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 395 Extracellular (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ACAAGGAACTGAGCAGTTGTT 0.612 2 9 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578461 7578461 + Missense_Mutation SNP C A A rs121912654 TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr17:7578461C>A uc002gim.2 - 5 663 c.469G>T c.(469-471)GTC>TTC p.V157F TP53_uc002gig.1_Missense_Mutation_p.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 157 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGCGCGGACGCGGGTGCCG 0.617 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 39 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10235464 10235464 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr17:10235464G>T uc002gmk.1 - 20 2340 c.2250C>A c.(2248-2250)CTC>CTA p.L750L NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 750 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CGATGGAGTTGAGGAGCTTCT 0.552 50 52 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10352316 10352316 + Silent SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr17:10352316A>G uc002gmn.2 - 31 4341 c.4230T>C c.(4228-4230)GCT>GCC p.A1410A uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1410 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TGGAATTCACAGCTTCTACAT 0.463 12 61 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11535923 11535923 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr17:11535923C>A uc002gne.2 + 8 1606 c.1538C>A c.(1537-1539)TCT>TAT p.S513Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 513 Potential.|Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AATGACGTCTCTGAATTTAAC 0.393 22 83 --- --- --- --- PASS GSDMB 55876 broad.mit.edu 37 17 38068665 38068665 + Silent SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr17:38068665T>C uc010cwj.2 - 2 326 c.321A>G c.(319-321)TCA>TCG p.S107S GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Silent_p.S107S|GSDMB_uc002hth.2_Silent_p.S107S|GSDMB_uc010wem.1_Silent_p.S107S NM_001042471 NP_001035936 Q8TAX9 GSDMB_HUMAN gasdermin B isoform 1 107 cytoplasm breast(1)|pancreas(1) 2 GGAAACTGCCTGAAATTGTTA 0.428 28 69 --- --- --- --- PASS STAT3 6774 broad.mit.edu 37 17 40474455 40474455 + Nonsense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr17:40474455G>C uc002hzl.1 - 21 2186 c.1946C>G c.(1945-1947)TCA>TGA p.S649* STAT3_uc002hzk.1_Nonsense_Mutation_p.S649*|STAT3_uc002hzm.1_Nonsense_Mutation_p.S649*|STAT3_uc010wgh.1_Nonsense_Mutation_p.S551*|STAT3_uc002hzn.1_Nonsense_Mutation_p.S649* NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 649 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TTCAGCAAATGACATGTTGTT 0.473 Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome 37 224 --- --- --- --- PASS FAM134C 162427 broad.mit.edu 37 17 40761340 40761340 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr17:40761340C>T uc002ial.2 - 1 106 c.3G>A c.(1-3)ATG>ATA p.M1I TUBG1_uc002ian.2_5'Flank|FAM134C_uc010wgq.1_5'UTR|FAM134C_uc002iam.1_5'UTR|FAM134C_uc010cyk.1_Intron NM_178126 NP_835227 Q86VR2 F134C_HUMAN hypothetical protein LOC162427 1 integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) CGGCCTCAGCCATCTCCCCGC 0.682 14 52 --- --- --- --- PASS RNF43 54894 broad.mit.edu 37 17 56435697 56435697 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr17:56435697G>A uc002iwf.2 - 8 3396 c.1440C>T c.(1438-1440)GTC>GTT p.V480V RNF43_uc010wnv.1_Silent_p.V439V|RNF43_uc002iwh.3_Silent_p.V480V|RNF43_uc002iwg.3_Silent_p.V480V|RNF43_uc010dcw.2_Silent_p.V353V NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 480 Cytoplasmic (Potential).|Ser-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGTGCAGTTGACCACAGAGT 0.567 24 67 --- --- --- --- PASS KLHL14 57565 broad.mit.edu 37 18 30349716 30349716 + Nonsense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr18:30349716G>T uc002kxm.1 - 2 1227 c.839C>A c.(838-840)TCA>TAA p.S280* NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 280 cytosol|endoplasmic reticulum membrane ovary(1) 1 GAAATCCACTGACTGGACCCG 0.647 9 63 --- --- --- --- PASS HAUS1 115106 broad.mit.edu 37 18 43703282 43703282 + Missense_Mutation SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr18:43703282A>T uc002lbu.2 + 6 698 c.618A>T c.(616-618)AGA>AGT p.R206S HAUS1_uc002lbv.2_Missense_Mutation_p.R130S NM_138443 NP_612452 Q96CS2 HAUS1_HUMAN coiled-coil domain containing 5 206 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole ovary(1) 1 TTTCAGCCAGAGGCATGGATG 0.313 42 106 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65179671 65179671 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr18:65179671C>A uc002lke.1 - 2 3429 c.2205G>T c.(2203-2205)AAG>AAT p.K735N NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 725 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) TGAATCTTGTCTTCAGGTTAT 0.398 11 32 --- --- --- --- PASS TSHZ1 10194 broad.mit.edu 37 18 72998506 72998506 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr18:72998506G>C uc002lly.2 + 2 1572 c.1009G>C c.(1009-1011)GAT>CAT p.D337H NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 382 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GTCAGCCAAGGATCAGAAAGC 0.632 16 35 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76755006 76755006 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr18:76755006C>T uc002lmt.2 + 2 3015 c.3015C>T c.(3013-3015)TTC>TTT p.F1005F SALL3_uc010dra.2_Intron NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1005 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) AGCGGCCATTCGTCTGCGCGC 0.517 12 54 --- --- --- --- PASS HCN2 610 broad.mit.edu 37 19 603849 603849 + Missense_Mutation SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:603849A>T uc002lpe.2 + 2 991 c.938A>T c.(937-939)GAC>GTC p.D313V NM_001194 NP_001185 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic 313 Extracellular (Potential). cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) AAGGGCATTGACTCCGAGGTC 0.587 15 40 --- --- --- --- PASS POLRMT 5442 broad.mit.edu 37 19 619277 619277 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:619277G>A uc002lpf.1 - 14 3142 c.3086C>T c.(3085-3087)TCT>TTT p.S1029F NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 1029 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GAGATAGTGAGAGGCCTCCCA 0.637 5 100 --- --- --- --- PASS DOT1L 84444 broad.mit.edu 37 19 2185903 2185903 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:2185903G>A uc002lvb.3 + 3 211 c.175G>A c.(175-177)GTT>ATT p.V59I NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 59 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGAATTACGTTTTAATTGA 0.488 18 424 --- --- --- --- PASS STAP2 55620 broad.mit.edu 37 19 4329999 4329999 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:4329999G>A uc002mab.2 - 5 511 c.414C>T c.(412-414)GTC>GTT p.V138V STAP2_uc002mac.2_Silent_p.V138V|STAP2_uc002mad.2_Silent_p.V31V NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 138 SH2. cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CTTTGGCCAAGACTTCAGACA 0.647 6 32 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6921840 6921840 + Nonsense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:6921840C>A uc002mfw.2 + 14 1775 c.1737C>A c.(1735-1737)TGC>TGA p.C579* EMR1_uc010dvc.2_Nonsense_Mutation_p.C579*|EMR1_uc010dvb.2_Nonsense_Mutation_p.C527*|EMR1_uc010xji.1_Nonsense_Mutation_p.C438*|EMR1_uc010xjj.1_Nonsense_Mutation_p.C402* NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 579 GPS.|Extracellular (Potential).|Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) ATACCATCTGCAGCTGTAATC 0.502 25 117 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9017356 9017356 + Silent SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:9017356G>C uc002mkp.2 - 26 38172 c.37968C>G c.(37966-37968)CTC>CTG p.L12656L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12658 SEA 4.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CATTGACATAGAGACTGTTCC 0.567 24 259 --- --- --- --- PASS OR7D4 125958 broad.mit.edu 37 19 9324709 9324709 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:9324709G>T uc002mla.1 - 1 805 c.805C>A c.(805-807)CAG>AAG p.Q269K NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GAGCTGCTCTGGGAAGAATGG 0.547 7 46 --- --- --- --- PASS OR7D4 125958 broad.mit.edu 37 19 9324710 9324710 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:9324710G>T uc002mla.1 - 1 804 c.804C>A c.(802-804)TCC>TCA p.S268S NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(1) ovary(2)|central_nervous_system(1)|skin(1) 4 AGCTGCTCTGGGAAGAATGGG 0.547 7 44 --- --- --- --- PASS PRKCSH 5589 broad.mit.edu 37 19 11547298 11547298 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:11547298C>T uc002mrt.2 + 3 504 c.168C>T c.(166-168)TGC>TGT p.C56C CCDC151_uc002mrs.2_5'Flank|CCDC151_uc010dxz.2_5'Flank|PRKCSH_uc002mru.2_Silent_p.C56C|PRKCSH_uc010xlz.1_Silent_p.C56C|PRKCSH_uc010dya.2_Missense_Mutation_p.A25V|PRKCSH_uc002mrv.1_Silent_p.C56C|PRKCSH_uc010dyb.2_Silent_p.C56C NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 56 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 ATGACTATTGCGACTGCAAAG 0.383 3 37 --- --- --- --- PASS ZNF443 10224 broad.mit.edu 37 19 12541337 12541337 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:12541337T>C uc002mtu.2 - 4 1847 c.1649A>G c.(1648-1650)CAT>CGT p.H550R NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 550 C2H2-type 15. induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 AATTCTTTCATGTACCTTTAA 0.393 23 77 --- --- --- --- PASS CALR 811 broad.mit.edu 37 19 13054428 13054428 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:13054428G>A uc002mvu.2 + 8 1118 c.1038G>A c.(1036-1038)ACG>ACA p.T346T CALR_uc002mvv.2_5'Flank|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank NM_004343 NP_004334 P27797 CALR_HUMAN calreticulin precursor 346 C-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding ovary(1) 1 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAACGAGACGTGGGGCGTAA 0.602 10 41 --- --- --- --- PASS EMR2 30817 broad.mit.edu 37 19 14883226 14883226 + Missense_Mutation SNP C A A rs115448457 TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:14883226C>A uc002mzp.1 - 5 739 c.283G>T c.(283-285)GTG>TTG p.V95L EMR2_uc010xnw.1_Missense_Mutation_p.V95L|EMR2_uc002mzo.1_Missense_Mutation_p.V95L|EMR2_uc002mzq.1_Missense_Mutation_p.V95L|EMR2_uc002mzr.1_Missense_Mutation_p.V95L|EMR2_uc002mzs.1_Missense_Mutation_p.V95L|EMR2_uc002mzt.1_Missense_Mutation_p.V95L|EMR2_uc002mzu.1_Missense_Mutation_p.V95L|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 95 Extracellular (Potential).|EGF-like 2; calcium-binding. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GGGCTGCACACGCAGTCGTAG 0.512 29 77 --- --- --- --- PASS ZNF14 7561 broad.mit.edu 37 19 19822987 19822987 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:19822987C>A uc002nnk.1 - 4 1257 c.1103G>T c.(1102-1104)TGT>TTT p.C368F NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 368 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) TGATTTGCCACATCGTTTACA 0.363 5 75 --- --- --- --- PASS LGI4 163175 broad.mit.edu 37 19 35617286 35617286 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:35617286C>A uc002nxx.2 - 8 1781 c.1187G>T c.(1186-1188)CGC>CTC p.R396L LGI4_uc002nxy.1_Missense_Mutation_p.R224L|LGI4_uc002nxz.1_Missense_Mutation_p.R224L NM_139284 NP_644813 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 396 EAR 3. extracellular region pancreas(1) 1 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) TCTCTCGAAGCGGCCACCGGT 0.677 5 23 --- --- --- --- PASS ZNF565 147929 broad.mit.edu 37 19 36673999 36673999 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:36673999C>G uc002odn.2 - 5 977 c.869G>C c.(868-870)CGT>CCT p.R290P ZNF565_uc010ees.2_Missense_Mutation_p.R225P|ZNF565_uc002odo.2_Missense_Mutation_p.R290P NM_152477 NP_689690 Q8N9K5 ZN565_HUMAN zinc finger protein 565 290 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) TTGGGAGCCACGAATGAAAGC 0.502 8 93 --- --- --- --- PASS ZNF829 374899 broad.mit.edu 37 19 37382620 37382620 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:37382620C>G uc002ofa.1 - 6 1435 c.1073G>C c.(1072-1074)AGA>ACA p.R358T ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 358 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAAGGCCTTTCTACATTCTTC 0.378 9 29 --- --- --- --- PASS ZNF540 163255 broad.mit.edu 37 19 38090575 38090575 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:38090575T>C uc002ogq.2 + 3 390 c.58T>C c.(58-60)TGG>CGG p.W20R ZNF540_uc002ogu.2_Missense_Mutation_p.W20R|ZNF540_uc010efq.2_Missense_Mutation_p.W20R NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAGAAGGAATGGGAGTGCCT 0.403 27 93 --- --- --- --- PASS PRX 57716 broad.mit.edu 37 19 40901692 40901692 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:40901692G>A uc002onr.2 - 7 2836 c.2567C>T c.(2566-2568)TCA>TTA p.S856L PRX_uc002onq.2_Missense_Mutation_p.S717L|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 856 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TAGCTCCACTGAAGGCAGAGT 0.632 15 57 --- --- --- --- PASS CYP2A13 1553 broad.mit.edu 37 19 41594427 41594427 + Silent SNP G A A rs71579360 TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:41594427G>A uc002opt.2 + 1 60 c.51G>A c.(49-51)GTG>GTA p.V17V NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 17 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) GCCTGACTGTGATGGTCTTGA 0.577 18 41 --- --- --- --- PASS ATP1A3 478 broad.mit.edu 37 19 42482868 42482868 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:42482868C>G uc002osg.2 - 12 1674 c.1520G>C c.(1519-1521)CGC>CCC p.R507P ATP1A3_uc010xwf.1_Missense_Mutation_p.R518P|ATP1A3_uc010xwg.1_Missense_Mutation_p.R477P|ATP1A3_uc010xwh.1_Missense_Mutation_p.R520P|ATP1A3_uc002osh.2_Missense_Mutation_p.R507P NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 507 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 GGTGGAGCAGCGGTCCAGGAT 0.622 24 102 --- --- --- --- PASS PSG3 5671 broad.mit.edu 37 19 43233400 43233400 + Missense_Mutation SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:43233400T>A uc002oue.2 - 5 1250 c.1118A>T c.(1117-1119)CAG>CTG p.Q373L PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.Q373L|PSG3_uc010eil.2_Missense_Mutation_p.Q395L NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 373 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) TCCTGATAGCTGAAACTTCCC 0.458 72 262 --- --- --- --- PASS ZNF229 7772 broad.mit.edu 37 19 44934665 44934665 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:44934665G>C uc002oze.1 - 6 725 c.291C>G c.(289-291)TTC>TTG p.F97L ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.F91L NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 97 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) TGTGTGAAAAGAACCTTAATT 0.408 15 67 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46351134 46351134 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:46351134G>C uc002pdn.2 - 7 797 c.552C>G c.(550-552)ATC>ATG p.I184M SYMPK_uc002pdo.1_Missense_Mutation_p.I184M|SYMPK_uc002pdp.1_Missense_Mutation_p.I184M|SYMPK_uc002pdq.1_Missense_Mutation_p.I184M NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 184 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CCACAAACTTGATGGCGTGGG 0.597 12 37 --- --- --- --- PASS VRK3 51231 broad.mit.edu 37 19 50482395 50482395 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:50482395G>A uc002prg.2 - 14 1479 c.1381C>T c.(1381-1383)CGT>TGT p.R461C VRK3_uc002prh.1_Missense_Mutation_p.R461C|VRK3_uc002pri.1_Missense_Mutation_p.R411C|VRK3_uc010ens.2_Missense_Mutation_p.R461C|VRK3_uc010ybl.1_Missense_Mutation_p.R411C|VRK3_uc010ybm.1_Missense_Mutation_p.R230C NM_016440 NP_057524 Q8IV63 VRK3_HUMAN vaccinia related kinase 3 isoform 1 461 nucleus ATP binding|protein kinase activity stomach(1)|skin(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) GGAGACACACGCAGATCCTGC 0.572 15 63 --- --- --- --- PASS SYT3 84258 broad.mit.edu 37 19 51132551 51132551 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:51132551C>T uc002pst.2 - 4 1915 c.1281G>A c.(1279-1281)TCG>TCA p.S427S SYT3_uc002psv.2_Silent_p.S427S|SYT3_uc010ycd.1_Silent_p.S427S NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 427 Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GGCCACTGACCGAGCCGCCCT 0.672 7 14 --- --- --- --- PASS PPP2R1A 5518 broad.mit.edu 37 19 52716078 52716078 + Missense_Mutation SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:52716078G>C uc002pyp.2 + 5 802 c.643G>C c.(643-645)GAC>CAC p.D215H PPP2R1A_uc010ydk.1_Missense_Mutation_p.D160H|PPP2R1A_uc010epm.1_Missense_Mutation_p.D255H|PPP2R1A_uc002pyq.2_Missense_Mutation_p.D36H NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 215 PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 6.|Polyoma small and medium T antigens 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) CCTGGCCTCTGACGAGCAGGT 0.602 Mis clear cell ovarian carcinoma 62 171 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56436388 56436388 + Silent SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr19:56436388G>C uc010ygg.1 - 2 358 c.333C>G c.(331-333)ACC>ACG p.T111T NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 111 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCAGCTCTTGGGTCTGCACAT 0.443 13 70 --- --- --- --- PASS C20orf46 55321 broad.mit.edu 37 20 1161765 1161765 + Nonsense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr20:1161765G>T uc010gaa.1 - 3 717 c.498C>A c.(496-498)TAC>TAA p.Y166* C20orf46_uc002weq.1_Nonsense_Mutation_p.Y166* NM_018354 NP_060824 Q9NUR3 CT046_HUMAN hypothetical protein LOC55321 166 integral to membrane protein binding ovary(1) 1 CTAGGCGGGCGTAGTACATCT 0.622 9 28 --- --- --- --- PASS TGM3 7053 broad.mit.edu 37 20 2308908 2308908 + Nonsense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr20:2308908G>A uc002wfx.3 + 9 1327 c.1230G>A c.(1228-1230)TGG>TGA p.W410* NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 410 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) GCAAACAGTGGAAGAATTCCG 0.542 24 50 --- --- --- --- PASS SIGLEC1 6614 broad.mit.edu 37 20 3677795 3677795 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr20:3677795C>T uc002wja.2 - 9 2317 c.2317G>A c.(2317-2319)GCC>ACC p.A773T SIGLEC1_uc002wiz.3_Missense_Mutation_p.A773T NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 773 Ig-like C2-type 7.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 ATGCGGCAGGCGTAAAGGGCA 0.632 25 41 --- --- --- --- PASS ZNF133 7692 broad.mit.edu 37 20 18296277 18296277 + Missense_Mutation SNP A G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr20:18296277A>G uc010gcq.2 + 5 1087 c.782A>G c.(781-783)CAG>CGG p.Q261R ZNF133_uc010zrv.1_Missense_Mutation_p.Q264R|ZNF133_uc010zrw.1_Missense_Mutation_p.Q198R|ZNF133_uc010gcr.2_Missense_Mutation_p.Q261R|ZNF133_uc010zrx.1_Missense_Mutation_p.Q166R|ZNF133_uc002wql.3_Missense_Mutation_p.Q260R|ZNF133_uc010gcs.2_Missense_Mutation_p.Q260R|ZNF133_uc010zry.1_Missense_Mutation_p.Q166R|ZNF133_uc002wqm.2_Missense_Mutation_p.Q261R NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 261 C2H2-type 2. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 GCCAGACACCAGAAGGCACAC 0.557 21 52 --- --- --- --- PASS TGIF2 60436 broad.mit.edu 37 20 35219627 35219627 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr20:35219627G>A uc002xfn.2 + 3 680 c.507G>A c.(505-507)AGG>AGA p.R169R C20orf24_uc002xfo.2_Intron NM_021809 NP_068581 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 169 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1)|skin(1) 2 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) TGCTGACCAGGGCTGAGGCTG 0.632 35 48 --- --- --- --- PASS C20orf118 140711 broad.mit.edu 37 20 35509121 35509121 + Missense_Mutation SNP A T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr20:35509121A>T uc002xgg.1 + 4 414 c.406A>T c.(406-408)ACA>TCA p.T136S NM_080628 NP_542195 A0PJX2 CT118_HUMAN hypothetical protein LOC140711 136 TLD. 0 Myeloproliferative disorder(115;0.00874) TACTGGCGAGACATTCCTCTT 0.527 14 151 --- --- --- --- PASS NCOA3 8202 broad.mit.edu 37 20 46281693 46281693 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr20:46281693G>T uc002xtk.2 + 22 4345 c.4140G>T c.(4138-4140)CAG>CAT p.Q1380H NCOA3_uc002xtl.2_Missense_Mutation_p.Q1376H|NCOA3_uc002xtm.2_Missense_Mutation_p.Q1375H|NCOA3_uc002xtn.2_Missense_Mutation_p.Q1379H|NCOA3_uc010zyc.1_Missense_Mutation_p.Q1175H NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 1380 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 CCCAGCAGCAGTTTGCCCACC 0.468 15 180 --- --- --- --- PASS ZGPAT 84619 broad.mit.edu 37 20 62340457 62340457 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr20:62340457G>A uc002ygk.2 + 2 703 c.525G>A c.(523-525)AAG>AAA p.K175K ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.K175K|ZGPAT_uc002ygj.2_Silent_p.K175K|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.K175K|ZGPAT_uc002ygm.2_Silent_p.K175K|ZGPAT_uc002ygn.3_RNA NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 175 C3H1-type. negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CCACTCACAAGTCTCTGAAGC 0.572 9 157 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10944750 10944750 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr21:10944750C>A uc002yip.1 - 11 852 c.484G>T c.(484-486)GAT>TAT p.D162Y TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D144Y|TPTE_uc002yir.1_Missense_Mutation_p.D124Y|TPTE_uc010gkv.1_Missense_Mutation_p.D24Y NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 162 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATGGCAGTATCTAAAATGTTA 0.308 29 230 --- --- --- --- PASS POTED 317754 broad.mit.edu 37 21 14982885 14982885 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr21:14982885C>A uc002yjb.1 + 1 388 c.336C>A c.(334-336)AGC>AGA p.S112R NM_174981 NP_778146 Q86YR6 POTED_HUMAN pote protein 112 plasma membrane ovary(3)|skin(3) 6 GCAGGGGGAGCGGCAAGAGCA 0.577 21 32 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19737458 19737458 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr21:19737458G>T uc002ykw.2 - 7 803 c.772C>A c.(772-774)CGT>AGT p.R258S NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 258 Extracellular (Potential).|CUB 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TTGTATTACCGTATGATCCAC 0.343 19 53 --- --- --- --- PASS KRTAP10-5 386680 broad.mit.edu 37 21 45999820 45999820 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr21:45999820G>A uc002zfl.1 - 1 662 c.636C>T c.(634-636)ACC>ACT p.T212T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 212 22 X 5 AA repeats of C-C-X(3).|18. keratin filament 0 TGCAGCAGGAGGTGGTGCAGC 0.647 49 98 --- --- --- --- PASS HPS4 89781 broad.mit.edu 37 22 26853846 26853846 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr22:26853846G>A uc003acl.2 - 13 2593 c.1934C>T c.(1933-1935)GCG>GTG p.A645V HPS4_uc003aci.2_Missense_Mutation_p.A640V|HPS4_uc003acj.2_Missense_Mutation_p.A509V|HPS4_uc003ack.2_Missense_Mutation_p.A436V|HPS4_uc003acn.2_Missense_Mutation_p.A491V|HPS4_uc003ach.2_Missense_Mutation_p.A380V NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 645 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 TTCATAAAGCGCGGGCAGCTG 0.632 Hermansky-Pudlak_syndrome 4 54 --- --- --- --- PASS SEC14L4 284904 broad.mit.edu 37 22 30890178 30890178 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr22:30890178G>T uc003aid.2 - 7 639 c.539C>A c.(538-540)GCA>GAA p.A180E SEC14L4_uc011akz.1_Missense_Mutation_p.A180E|SEC14L4_uc003aie.2_Missense_Mutation_p.A165E|SEC14L4_uc003aif.2_Missense_Mutation_p.A126E NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN SEC14p-like protein TAP3 isoform a 180 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity skin(1) 1 Vitamin E(DB00163) AGGATAATTTGCTTCCAGGAT 0.512 29 80 --- --- --- --- PASS EIF3L 51386 broad.mit.edu 37 22 38273833 38273833 + Missense_Mutation SNP A C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr22:38273833A>C uc003auf.2 + 11 1317 c.1230A>C c.(1228-1230)GAA>GAC p.E410D EIF3L_uc003aue.1_Missense_Mutation_p.E410D|EIF3L_uc011ann.1_Missense_Mutation_p.E362D|EIF3L_uc003aug.2_Missense_Mutation_p.E302D|EIF3L_uc003auh.2_Missense_Mutation_p.E143D NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3 410 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 AAGTCTATGAAGAACTTTTCA 0.507 25 58 --- --- --- --- PASS ATF4 468 broad.mit.edu 37 22 39917932 39917932 + Silent SNP C G G rs147705048 TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr22:39917932C>G uc003axz.2 + 3 661 c.381C>G c.(379-381)GTC>GTG p.V127V ATF4_uc011aol.1_Silent_p.V39V|ATF4_uc003aya.2_Silent_p.V127V NM_182810 NP_877962 P18848 ATF4_HUMAN activating transcription factor 4 127 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Melanoma(58;0.04) CCCCCCTAGTCCAGGAGACTA 0.522 53 201 --- --- --- --- PASS PLXNB2 23654 broad.mit.edu 37 22 50719566 50719566 + Nonsense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr22:50719566C>A uc003bkv.3 - 23 3821 c.3715G>T c.(3715-3717)GAG>TAG p.E1239* PLXNB2_uc003bkt.1_Nonsense_Mutation_p.E31*|PLXNB2_uc003bku.1_Nonsense_Mutation_p.E224* NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1239 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCCAGGCCCTCCAGCTGGGAC 0.662 7 17 --- --- --- --- PASS ODF3B 440836 broad.mit.edu 37 22 50969224 50969224 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr22:50969224G>A uc003bmh.2 - 6 735 c.598C>T c.(598-600)CCC>TCC p.P200S TYMP_uc003bmb.3_5'Flank|TYMP_uc003bmc.3_5'Flank|TYMP_uc003bmd.3_5'Flank|TYMP_uc010hbd.2_5'Flank|TYMP_uc003bme.3_5'Flank|TYMP_uc003bmf.3_5'Flank|TYMP_uc011arz.1_5'Flank|ODF3B_uc003bmg.2_Missense_Mutation_p.P176L NM_001014440 NP_001014440 A8MYP8 ODF3B_HUMAN outer dense fiber of sperm tails 3B 200 DUF1309. 0 GTGAACTGGGGGGCCCGGGAC 0.692 3 19 --- --- --- --- PASS ACR 49 broad.mit.edu 37 22 51178279 51178279 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr22:51178279G>A uc003bnh.3 + 3 451 c.439G>A c.(439-441)GAG>AAG p.E147K uc003bng.2_5'Flank|ACR_uc010hbh.1_Missense_Mutation_p.E147K NM_001097 NP_001088 P10323 ACRO_HUMAN acrosin precursor 147 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) TGCCCTCGTGGAGATCACCCC 0.547 44 122 --- --- --- --- PASS P2RY8 286530 broad.mit.edu 37 X 1585301 1585301 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:1585301G>T uc004cpz.2 - 2 399 c.151C>A c.(151-153)CGC>AGC p.R51S NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 51 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 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) GGCCCCATGCGCCGGCACAGC 0.637 T CRLF2 B-ALL|Downs associated ALL 12 48 --- --- --- --- PASS ASB9 140462 broad.mit.edu 37 X 15287980 15287980 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:15287980C>A uc004cwl.2 - 1 264 c.17G>T c.(16-18)GGG>GTG p.G6V ASB9_uc004cwk.2_Missense_Mutation_p.G6V|ASB9_uc004cwm.2_Missense_Mutation_p.G6V|ASB9_uc010ner.2_Missense_Mutation_p.G6V|ASB9_uc004cwn.2_Missense_Mutation_p.G6V NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 6 intracellular signal transduction 0 Hepatocellular(33;0.183) ATCCATGCCCCCTTGTTTGCC 0.567 12 105 --- --- --- --- PASS ASB9 140462 broad.mit.edu 37 X 15287981 15287981 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:15287981C>G uc004cwl.2 - 1 263 c.16G>C c.(16-18)GGG>CGG p.G6R ASB9_uc004cwk.2_Missense_Mutation_p.G6R|ASB9_uc004cwm.2_Missense_Mutation_p.G6R|ASB9_uc010ner.2_Missense_Mutation_p.G6R|ASB9_uc004cwn.2_Missense_Mutation_p.G6R NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 6 intracellular signal transduction 0 Hepatocellular(33;0.183) TCCATGCCCCCTTGTTTGCCA 0.567 11 104 --- --- --- --- PASS MAGEB2 4113 broad.mit.edu 37 X 30237316 30237316 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:30237316C>A uc004dbz.2 + 2 722 c.619C>A c.(619-621)CTC>ATC p.L207I NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 207 MAGE. protein binding ovary(1) 1 TCTGATGCCTCTCCTGGGTGT 0.493 11 33 --- --- --- --- PASS XK 7504 broad.mit.edu 37 X 37553744 37553744 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:37553744C>A uc004ddq.2 + 2 533 c.451C>A c.(451-453)CAG>AAG p.Q151K NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 151 Helical; (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) CTCAGCCCCCCAGCTGACCCT 0.522 2 5 --- --- --- --- PASS CACNA1F 778 broad.mit.edu 37 X 49068374 49068374 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:49068374C>A uc004dnb.2 - 35 4179 c.4117G>T c.(4117-4119)GTG>TTG p.V1373L CACNA1F_uc010nip.2_Missense_Mutation_p.V1362L NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1373 Extracellular (Potential).|IV. axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) AGAAGCAGCACAGCCTGTGGA 0.552 18 77 --- --- --- --- PASS SHROOM4 57477 broad.mit.edu 37 X 50350935 50350935 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:50350935G>T uc004dpe.2 - 6 3233 c.3207C>A c.(3205-3207)AGC>AGA p.S1069R SHROOM4_uc004dpd.3_RNA NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 1069 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) AGGCCCGGGTGCTTTGGGGCG 0.597 24 63 --- --- --- --- PASS SHROOM4 57477 broad.mit.edu 37 X 50351168 50351168 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:50351168T>C uc004dpe.2 - 6 3000 c.2974A>G c.(2974-2976)AAG>GAG p.K992E SHROOM4_uc004dpd.3_RNA NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 992 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) AAGCTAGTCTTGGAATGAGCC 0.303 7 60 --- --- --- --- PASS SPIN4 139886 broad.mit.edu 37 X 62570029 62570029 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:62570029C>T uc004dvf.2 - 1 1190 c.670G>A c.(670-672)GTG>ATG p.V224M NM_001012968 NP_001012986 Q56A73 SPIN4_HUMAN spindlin family, member 4 224 gamete generation ovary(1)|lung(1) 2 GGCTTCGCCACCACTTGATGT 0.438 35 115 --- --- --- --- PASS STARD8 9754 broad.mit.edu 37 X 67937293 67937293 + Silent SNP C A A rs138134354 byFrequency TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:67937293C>A uc004dxa.2 + 5 669 c.297C>A c.(295-297)CCC>CCA p.P99P STARD8_uc004dxb.2_Silent_p.P179P|STARD8_uc004dxc.3_Silent_p.P99P NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 99 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 GCCGTGCCCCCAGCTCGAGTG 0.652 12 41 --- --- --- --- PASS PJA1 64219 broad.mit.edu 37 X 68383037 68383037 + Silent SNP T A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:68383037T>A uc004dxh.2 - 2 331 c.45A>T c.(43-45)GGA>GGT p.G15G PJA1_uc011mpi.1_Intron|PJA1_uc004dxg.2_Silent_p.G15G|PJA1_uc004dxi.2_Intron NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 15 zinc ion binding 0 ACTGATACCCTCCTGTTGGAT 0.542 37 112 --- --- --- --- PASS DLG3 1741 broad.mit.edu 37 X 69712107 69712107 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:69712107G>A uc004dyi.1 + 11 1999 c.1671G>A c.(1669-1671)CAG>CAA p.Q557Q DLG3_uc004dyj.1_Silent_p.Q220Q|DLG3_uc011mpn.1_Silent_p.Q73Q NM_021120 NP_066943 Q92796 DLG3_HUMAN synapse-associated protein 102 isoform a 557 SH3. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity large_intestine(1)|pancreas(1) 2 Renal(35;0.156) AAAGTGAGCAGATCGGTGTGA 0.488 16 53 --- --- --- --- PASS MED12 9968 broad.mit.edu 37 X 70351454 70351454 + Missense_Mutation SNP A C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:70351454A>C uc004dyy.2 + 29 4301 c.4102A>C c.(4102-4104)AAG>CAG p.K1368Q MED12_uc011mpq.1_Missense_Mutation_p.K1368Q|MED12_uc004dyz.2_Missense_Mutation_p.K1368Q|MED12_uc004dza.2_Missense_Mutation_p.K1215Q|MED12_uc010nla.2_5'UTR NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1368 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GCTCATGATCAAGCAGACCCC 0.557 19 68 --- --- --- --- PASS PHKA1 5255 broad.mit.edu 37 X 71802349 71802349 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:71802349C>G uc004eax.3 - 31 3698 c.3397G>C c.(3397-3399)GTC>CTC p.V1133L PHKA1_uc004eay.3_Missense_Mutation_p.V1120L|PHKA1_uc011mqi.1_Missense_Mutation_p.V1061L|PHKA1_uc010nll.2_Missense_Mutation_p.V165L NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 1133 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) ATGGTGAGGACAAGGATGGCT 0.448 10 83 --- --- --- --- PASS RLIM 51132 broad.mit.edu 37 X 73811707 73811707 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:73811707G>A uc004ebu.2 - 5 1733 c.1443C>T c.(1441-1443)TCC>TCT p.S481S RLIM_uc004ebw.2_Silent_p.S481S NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 481 Ser-rich.|Poly-Ser. random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TTTCACCAccggaactggaac 0.284 20 51 --- --- --- --- PASS ZDHHC15 158866 broad.mit.edu 37 X 74644568 74644568 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:74644568C>A uc004ecg.2 - 8 1133 c.655G>T c.(655-657)GTG>TTG p.V219L ZDHHC15_uc004ech.2_Missense_Mutation_p.V210L|ZDHHC15_uc011mqo.1_RNA NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 219 Helical; (Potential). integral to membrane zinc ion binding ovary(2) 2 ATGCAGGCCACAAAGAGAAGA 0.388 7 22 --- --- --- --- PASS P2RY10 27334 broad.mit.edu 37 X 78216935 78216935 + Silent SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:78216935C>T uc004ede.2 + 4 1287 c.918C>T c.(916-918)TAC>TAT p.Y306Y P2RY10_uc004edf.2_Silent_p.Y306Y NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 306 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 TTCTTTATTACTTTATGGCTT 0.488 64 207 --- --- --- --- PASS ITM2A 9452 broad.mit.edu 37 X 78618572 78618572 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:78618572C>A uc004edh.2 - 3 643 c.308G>T c.(307-309)GGA>GTA p.G103V ITM2A_uc011mqr.1_Missense_Mutation_p.G59V NM_004867 NP_004858 O43736 ITM2A_HUMAN integral membrane protein 2A 103 integral to membrane protein binding lung(2) 2 AGGCTCTCCTCCACGAAGGGA 0.443 12 40 --- --- --- --- PASS DACH2 117154 broad.mit.edu 37 X 86067949 86067949 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:86067949G>T uc004eew.2 + 8 1501 c.1331G>T c.(1330-1332)GGA>GTA p.G444V DACH2_uc004eex.2_Missense_Mutation_p.G431V|DACH2_uc010nmq.2_Missense_Mutation_p.G310V|DACH2_uc011mra.1_Missense_Mutation_p.G277V|DACH2_uc010nmr.2_Missense_Mutation_p.G225V|DACH2_uc004eey.2_Missense_Mutation_p.G127V|DACH2_uc004eez.2_Missense_Mutation_p.G127V NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 GGATTCCCTGGACCATTCATT 0.423 9 26 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91133468 91133468 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:91133468C>G uc004efk.1 + 2 3074 c.2229C>G c.(2227-2229)GAC>GAG p.D743E PCDH11X_uc004efl.1_Missense_Mutation_p.D743E|PCDH11X_uc004efo.1_Missense_Mutation_p.D743E|PCDH11X_uc010nmv.1_Missense_Mutation_p.D743E|PCDH11X_uc004efm.1_Missense_Mutation_p.D743E|PCDH11X_uc004efn.1_Missense_Mutation_p.D743E|PCDH11X_uc004efh.1_Missense_Mutation_p.D743E|PCDH11X_uc004efj.1_Missense_Mutation_p.D743E NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 743 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATGTTACAGACCTTGGTTTAC 0.413 13 96 --- --- --- --- PASS SRPX2 27286 broad.mit.edu 37 X 99924320 99924320 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:99924320C>A uc004egb.2 + 10 1651 c.1171C>A c.(1171-1173)CGC>AGC p.R391S NM_014467 NP_055282 O60687 SRPX2_HUMAN sushi-repeat-containing protein, X-linked 2 391 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding ovary(2) 2 GGAGGTGGGGCGCATCCGGGA 0.612 10 37 --- --- --- --- PASS TCEAL6 158931 broad.mit.edu 37 X 101396002 101396002 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:101396002G>A uc004eiq.2 - 3 463 c.302C>T c.(301-303)CCG>CTG p.P101L NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 ATCTCCAGCCGGGCGCTTTTC 0.612 40 151 --- --- --- --- PASS PLP1 5354 broad.mit.edu 37 X 103042767 103042767 + Missense_Mutation SNP T C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:103042767T>C uc010nov.2 + 5 774 c.494T>C c.(493-495)CTG>CCG p.L165P RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.L165P|PLP1_uc004elj.2_Missense_Mutation_p.L130P|PLP1_uc011msf.1_Missense_Mutation_p.L110P|PLP1_uc010nox.2_Missense_Mutation_p.L119P NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 165 Helical; Name=3; (Probable). Missing (in HLD1). cell death|synaptic transmission integral to membrane ovary(1) 1 GTGTGGCTCCTGGTGTTTGCC 0.507 7 191 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105139491 105139491 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:105139491G>T uc004emd.2 + 7 858 c.555G>T c.(553-555)CTG>CTT p.L185L NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 185 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 ATGTGCTGCTGACTCATAATG 0.363 HNSCC(51;0.14) 28 90 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105169003 105169003 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:105169003G>T uc004emd.2 + 19 3595 c.3292G>T c.(3292-3294)GAC>TAC p.D1098Y NRK_uc010npc.1_Missense_Mutation_p.D766Y NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1098 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TGCGTCTCAGGACTTTGAATA 0.453 HNSCC(51;0.14) 26 85 --- --- --- --- PASS CXorf57 55086 broad.mit.edu 37 X 105868450 105868450 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:105868450G>T uc004emi.3 + 3 1068 c.917G>T c.(916-918)AGT>ATT p.S306I CXorf57_uc004emj.3_Missense_Mutation_p.S306I|CXorf57_uc004emh.2_Missense_Mutation_p.S306I NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 306 ovary(1)|lung(1)|breast(1) 3 GTTAAAAAGAGTTATCCATTC 0.393 33 112 --- --- --- --- PASS TBC1D8B 54885 broad.mit.edu 37 X 106046203 106046203 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:106046203G>A uc004emo.2 + 1 285 c.120G>A c.(118-120)GGG>GGA p.G40G TBC1D8B_uc004emm.2_Silent_p.G40G|TBC1D8B_uc004emn.2_Silent_p.G40G NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 40 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 AAGGCGGAGGGGGGCTCACAG 0.567 17 42 --- --- --- --- PASS TBC1D8B 54885 broad.mit.edu 37 X 106097468 106097468 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:106097468G>A uc004emo.2 + 14 2459 c.2294G>A c.(2293-2295)CGC>CAC p.R765H MORC4_uc004emp.3_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 765 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 CATAGTATGCGCTGTCGAAAT 0.348 17 62 --- --- --- --- PASS PGRMC1 10857 broad.mit.edu 37 X 118370482 118370482 + Silent SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:118370482G>T uc004erb.2 + 1 272 c.156G>T c.(154-156)GCG>GCT p.A52A PGRMC1_uc011mts.1_Silent_p.A52A NM_006667 NP_006658 O00264 PGRC1_HUMAN progesterone receptor membrane component 1 52 Cytoplasmic (Potential). cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding 0 ACCAGCCGGCGGCCAGCGGCG 0.701 7 30 --- --- --- --- PASS UBE2A 7319 broad.mit.edu 37 X 118708716 118708716 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:118708716G>T uc004erl.2 + 1 218 c.42G>T c.(40-42)AAG>AAT p.K14N UBE2A_uc004erm.2_Missense_Mutation_p.K14N|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_5'Flank NM_003336 NP_003327 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A isoform 1 14 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity 0 GGGACTTCAAGAGGTAAACCG 0.766 Direct_reversal_of_damage|Rad6_pathway 3 16 --- --- --- --- PASS ZBTB33 10009 broad.mit.edu 37 X 119387961 119387961 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:119387961C>A uc004esn.1 + 2 919 c.691C>A c.(691-693)CCT>ACT p.P231T ZBTB33_uc010nqm.1_Missense_Mutation_p.P231T NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 231 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AGATGTTGCACCTAGTGCTAG 0.468 8 83 --- --- --- --- PASS CUL4B 8450 broad.mit.edu 37 X 119660631 119660631 + Nonsense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:119660631G>T uc004esw.2 - 22 3164 c.2727C>A c.(2725-2727)TAC>TAA p.Y909* CUL4B_uc010nqq.2_Nonsense_Mutation_p.Y610*|CUL4B_uc004esv.2_Nonsense_Mutation_p.Y891* NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 909 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 CAATATAGTTGTACTGGTTTG 0.363 15 95 --- --- --- --- PASS THOC2 57187 broad.mit.edu 37 X 122772854 122772854 + Missense_Mutation SNP C G G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:122772854C>G uc004etu.2 - 17 1803 c.1771G>C c.(1771-1773)GAT>CAT p.D591H THOC2_uc011muh.1_Missense_Mutation_p.D516H NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 591 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 ATTAAGTTATCATACTTCTGT 0.343 71 207 --- --- --- --- PASS STAG2 10735 broad.mit.edu 37 X 123164847 123164847 + Missense_Mutation SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:123164847G>T uc004etz.3 + 4 499 c.160G>T c.(160-162)GGC>TGC p.G54C STAG2_uc004eua.2_Missense_Mutation_p.G54C|STAG2_uc004eub.2_Missense_Mutation_p.G54C|STAG2_uc004euc.2_Missense_Mutation_p.G54C|STAG2_uc004eud.2_Missense_Mutation_p.G54C|STAG2_uc004eue.2_Missense_Mutation_p.G54C NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 54 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 AGCAGAAAAGGGCAAAGGTGG 0.413 10 63 --- --- --- --- PASS STAG2 10735 broad.mit.edu 37 X 123227995 123227995 + Splice_Site SNP G C C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:123227995G>C uc004etz.3 + 31 3933 c.3594_splice c.e31+1 p.L1198_splice STAG2_uc004eua.2_Splice_Site_p.L1235_splice|STAG2_uc004eub.2_Splice_Site_p.L1198_splice|STAG2_uc004euc.2_Splice_Site_p.L1235_splice|STAG2_uc004eud.2_Splice_Site_p.L1198_splice|STAG2_uc004eue.2_Splice_Site_p.L1198_splice NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TATAGATTTGGTAAGAAACTT 0.328 43 141 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123518143 123518143 + Missense_Mutation SNP C A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:123518143C>A uc004euj.2 - 29 6681 c.6617G>T c.(6616-6618)GGA>GTA p.G2206V ODZ1_uc011muj.1_Missense_Mutation_p.G2212V|ODZ1_uc010nqy.2_Missense_Mutation_p.G2213V NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2206 Extracellular (Potential).|YD 19. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CTGAATTTCTCCTAATCTGGT 0.423 27 93 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123518144 123518144 + Missense_Mutation SNP C T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:123518144C>T uc004euj.2 - 29 6680 c.6616G>A c.(6616-6618)GGA>AGA p.G2206R ODZ1_uc011muj.1_Missense_Mutation_p.G2212R|ODZ1_uc010nqy.2_Missense_Mutation_p.G2213R NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2206 Extracellular (Potential).|YD 19. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TGAATTTCTCCTAATCTGGTG 0.423 25 93 --- --- --- --- PASS MIR891A 100126341 broad.mit.edu 37 X 145109344 145109344 + RNA SNP G T T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:145109344G>T hsa-mir-891a|MI0005524 - c.47G>T 0 atgtgCCACTGAGTATTTTAC 0.353 11 63 --- --- --- --- PASS MAGEA12 4111 broad.mit.edu 37 X 151900625 151900625 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:151900625G>A uc010ntp.2 - 3 530 c.176C>T c.(175-177)CCA>CTA p.P59L MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.P59L|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 59 skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GGGAGGACTTGGTGACTCGGC 0.602 31 123 --- --- --- --- PASS ZNF275 10838 broad.mit.edu 37 X 152612647 152612647 + Silent SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:152612647G>A uc004fhg.1 + 4 681 c.504G>A c.(502-504)GCG>GCA p.A168A ZNF275_uc011mym.1_Silent_p.A168A|ZNF275_uc011myn.1_Silent_p.A105A A6NFS0 A6NFS0_HUMAN SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275; 168 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGAATGCCGCGGAGAAGAGGG 0.602 5 48 --- --- --- --- PASS VBP1 7411 broad.mit.edu 37 X 154448556 154448556 + Missense_Mutation SNP G A A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chrX:154448556G>A uc004fnc.2 + 2 249 c.190G>A c.(190-192)GAA>AAA p.E64K VBP1_uc004fnd.2_Missense_Mutation_p.E27K NM_003372 NP_003363 P61758 PFD3_HUMAN von Hippel-Lindau binding protein 1 64 'de novo' posttranslational protein folding nucleus|prefoldin complex unfolded protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TAAGTTTATGGAACTCAACCT 0.299 10 57 --- --- --- --- PASS ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT - - rs71859853 TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 16756a08-8308-4ad3-9e21-2cea0cd7028e 1f9d3958-efe9-4761-978a-8fd0655dc3ec g.chr11:124750448_124750453delCGGAGT uc001qbc.2 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)CGGAGTdel p.RS1367del ROBO3_uc001qbd.2_In_Frame_Del_p.RS292del|ROBO3_uc010sar.1_In_Frame_Del_p.RS416del|ROBO3_uc001qbe.2_In_Frame_Del_p.RS292del|ROBO3_uc001qbf.1_In_Frame_Del_p.RS251del NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 1367_1368 Cytoplasmic (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.519 3 3 --- --- --- ---