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 PRAMEF2 65122 broad.mit.edu 37 1 12921337 12921337 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:12921337C>T uc001aum.1 + 4 1215 c.1128C>T c.(1126-1128)TGC>TGT p.C376C NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 376 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGAGCTGCTGCTCCCAGCTCA 0.562 47 179 --- --- --- --- PASS ARHGEF10L 55160 broad.mit.edu 37 1 17991036 17991036 + Nonsense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:17991036G>A uc001ban.2 + 26 3114 c.2955G>A c.(2953-2955)TGG>TGA p.W985* ARHGEF10L_uc009vpe.1_Nonsense_Mutation_p.W946*|ARHGEF10L_uc001bao.2_Nonsense_Mutation_p.W946*|ARHGEF10L_uc001bap.2_Nonsense_Mutation_p.W941*|ARHGEF10L_uc001baq.2_Nonsense_Mutation_p.W746*|ARHGEF10L_uc010ocs.1_Nonsense_Mutation_p.W758*|ARHGEF10L_uc001bar.2_Nonsense_Mutation_p.W688*|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 985 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) ATGCCGTGTGGGCCAGCTGTG 0.667 15 9 --- --- --- --- PASS TAS1R2 80834 broad.mit.edu 37 1 19180803 19180803 + Silent SNP G A A rs139739080 TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:19180803G>A uc001bba.1 - 3 1162 c.1161C>T c.(1159-1161)AGC>AGT p.S387S NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 387 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CAGAGTACACGCTGTAGACGA 0.592 10 27 --- --- --- --- PASS HMGN2 3151 broad.mit.edu 37 1 26801131 26801131 + Silent SNP A T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:26801131A>T uc001bmp.3 + 5 412 c.210A>T c.(208-210)GCA>GCT p.A70A HMGN2_uc009vsk.2_Silent_p.A55A|HMGN2_uc001bmq.3_Missense_Mutation_p.Q104L NM_005517 NP_005508 P05204 HMGN2_HUMAN high-mobility group nucleosomal binding domain 70 chromatin organization|regulation of transcription, DNA-dependent chromatin|cytoplasm|nucleus DNA binding|protein binding 0 all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) ATAACCCTGCAGAAAATGGAG 0.408 4 17 --- --- --- --- PASS UTP11L 51118 broad.mit.edu 37 1 38483404 38483404 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:38483404G>T uc001ccn.3 + 3 281 c.190G>T c.(190-192)GAT>TAT p.D64Y UTP11L_uc009vvm.2_5'UTR|UTP11L_uc010oil.1_RNA|UTP11L_uc001cco.3_5'UTR NM_016037 NP_057121 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar 64 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AAAAAATCCAGATGAATTCTA 0.403 17 26 --- --- --- --- PASS DPH2 1802 broad.mit.edu 37 1 44435860 44435860 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:44435860T>C uc001ckz.2 + 1 208 c.13T>C c.(13-15)TTT>CTT p.F5L DPH2_uc001cla.2_Missense_Mutation_p.F5L|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN diphthamide biosynthesis protein 2 isoform a 5 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GGAGTCGATGTTTAGCAGCCC 0.657 19 32 --- --- --- --- PASS GBP6 163351 broad.mit.edu 37 1 89845989 89845989 + Missense_Mutation SNP A T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:89845989A>T uc001dnf.2 + 6 944 c.670A>T c.(670-672)ATC>TTC p.I224F GBP6_uc010ost.1_Missense_Mutation_p.I94F NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 224 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) CAGGGAGTGCATCAGGCGTTT 0.413 35 52 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 98293701 98293701 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:98293701C>A uc001drv.2 - 3 339 c.202G>T c.(202-204)GGT>TGT p.G68C DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.G68C NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 68 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CCTCGCTCACCAAGAGTCGTG 0.393 22 34 --- --- --- --- PASS EXTL2 2135 broad.mit.edu 37 1 101339863 101339863 + Missense_Mutation SNP T C C rs141823466 by1000genomes TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:101339863T>C uc001dtk.1 - 5 965 c.628A>G c.(628-630)ATG>GTG p.M210V EXTL2_uc001dtl.1_Missense_Mutation_p.M210V|EXTL2_uc010ouk.1_Missense_Mutation_p.M197V|EXTL2_uc001dtm.1_Missense_Mutation_p.M209V NM_001439 NP_001430 Q9UBQ6 EXTL2_HUMAN exostoses-like 2 210 Lumenal (Potential). N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) ATCAGCACCATAGAGTACTGG 0.408 22 45 --- --- --- --- PASS CHIA 27159 broad.mit.edu 37 1 111857928 111857928 + Silent SNP G A A rs150698600 byFrequency TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:111857928G>A uc001eas.2 + 6 454 c.351G>A c.(349-351)CAG>CAA p.Q117Q CHIA_uc001ear.2_Silent_p.Q9Q|CHIA_uc001eaq.2_Silent_p.Q9Q|CHIA_uc009wgc.2_Silent_p.Q9Q|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 117 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) AGAACCGCCAGACTTTCATCA 0.537 61 129 --- --- --- --- PASS MRPL9 65005 broad.mit.edu 37 1 151732535 151732535 + Silent SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:151732535G>C uc001eyv.2 - 7 880 c.795C>G c.(793-795)CCC>CCG p.P265P MRPL9_uc009wmz.2_RNA NM_031420 NP_113608 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 precursor 265 translation mitochondrial ribosome structural constituent of ribosome ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TTTAGATCTGGGGGCTGGTGG 0.527 33 32 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152129212 152129212 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:152129212G>T uc001ezs.1 - 3 428 c.363C>A c.(361-363)CAC>CAA p.H121Q NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 121 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 GCCTCTGTCTGTGTTGTCTGC 0.532 103 228 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152283417 152283417 + Missense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:152283417G>C uc001ezu.1 - 3 3981 c.3945C>G c.(3943-3945)GAC>GAG p.D1315E uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1315 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTGGCTCTGTCTTCTTGAT 0.373 Ichthyosis 93 222 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152287908 152287908 + Missense_Mutation SNP A C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:152287908A>C uc001ezu.1 - 2 61 c.25T>G c.(25-27)TTT>GTT p.F9V uc001ezv.2_Intron NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 9 EF-hand 1. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTATGGCAAAGATGTTTTCC 0.299 Ichthyosis 13 79 --- --- --- --- PASS ARHGEF2 9181 broad.mit.edu 37 1 155921325 155921325 + Splice_Site SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:155921325C>T uc001fmt.2 - 19 2327 c.2209_splice c.e19-1 p.E737_splice ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Splice_Site_p.E709_splice|ARHGEF2_uc001fms.2_Splice_Site_p.E736_splice|ARHGEF2_uc001fmu.2_Splice_Site_p.E781_splice NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GTAACGCCTCCTGAGGACAGA 0.557 102 98 --- --- --- --- PASS SLAMF6 114836 broad.mit.edu 37 1 160465906 160465906 + Silent SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:160465906G>T uc001fwe.1 - 2 387 c.327C>A c.(325-327)GCC>GCA p.A109A SLAMF6_uc001fwd.1_Silent_p.A109A|SLAMF6_uc010pjh.1_Silent_p.A60A|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Silent_p.A60A NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 109 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TGGATATCTGGGCTCTGTAAG 0.438 125 105 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171548569 171548569 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:171548569G>T uc010pmg.1 + 27 7496 c.7230G>T c.(7228-7230)TTG>TTT p.L2410F BAT2L2_uc010pmh.1_Missense_Mutation_p.L1322F|BAT2L2_uc010pmi.1_Missense_Mutation_p.L247F|BAT2L2_uc010pmj.1_5'Flank NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 2410 Gln-rich. protein C-terminus binding 0 CGCCATCCTTGGCTCAACAAC 0.423 11 48 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171548570 171548570 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:171548570G>T uc010pmg.1 + 27 7497 c.7231G>T c.(7231-7233)GCT>TCT p.A2411S BAT2L2_uc010pmh.1_Missense_Mutation_p.A1323S|BAT2L2_uc010pmi.1_Missense_Mutation_p.A248S|BAT2L2_uc010pmj.1_5'Flank NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 2411 Gln-rich. protein C-terminus binding 0 GCCATCCTTGGCTCAACAACA 0.418 11 46 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176740254 176740254 + Missense_Mutation SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:176740254C>G uc001gkz.2 + 17 5817 c.4653C>G c.(4651-4653)ATC>ATG p.I1551M PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1551 Sushi 3. 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 TGGGCACCATCTGCAAATATG 0.483 28 74 --- --- --- --- PASS RASAL2 9462 broad.mit.edu 37 1 178442279 178442279 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:178442279C>T uc001glr.2 + 16 3450 c.3325C>T c.(3325-3327)CGG>TGG p.R1109W RASAL2_uc001glq.2_Missense_Mutation_p.R1250W|RASAL2_uc009wxc.2_Missense_Mutation_p.A633V NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 1109 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 AGTGAAGGAGCGGTACAGCAT 0.537 27 83 --- --- --- --- PASS SRGAP2 23380 broad.mit.edu 37 1 206634572 206634572 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:206634572T>C uc001hdy.2 + 20 3095 c.2762T>C c.(2761-2763)TTC>TCC p.F921S SRGAP2_uc010pru.1_Missense_Mutation_p.F844S NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 1008 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) GAGCCCGCCTTCCAGCGCAGC 0.672 21 15 --- --- --- --- PASS SMYD2 56950 broad.mit.edu 37 1 214501018 214501018 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:214501018G>T uc010ptx.1 + 7 689 c.656G>T c.(655-657)GGG>GTG p.G219V SMYD2_uc009xdj.2_Missense_Mutation_p.G127V|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 219 SET. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) ACCTACAAAGGGACCCTGGCA 0.488 OREG0004276 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 32 113 --- --- --- --- PASS HLX 3142 broad.mit.edu 37 1 221053501 221053501 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:221053501C>T uc001hmv.3 + 1 759 c.302C>T c.(301-303)CCC>CTC p.P101L NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 101 Pro-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) GTGGTGGCGCCCTCCGAAGTC 0.607 3 12 --- --- --- --- PASS PARP1 142 broad.mit.edu 37 1 226567672 226567672 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:226567672C>T uc001hqd.3 - 10 1665 c.1494G>A c.(1492-1494)AAG>AAA p.K498K NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 498 Automodification domain. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CAGCCCCTGACTTCCCTCTTG 0.597 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 52 113 --- --- --- --- PASS URB2 9816 broad.mit.edu 37 1 229770893 229770893 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:229770893G>A uc001hts.1 + 4 669 c.533G>A c.(532-534)GGC>GAC p.G178D URB2_uc009xfd.1_Missense_Mutation_p.G178D NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 178 nucleolus central_nervous_system(2)|ovary(1) 3 CTGGCCCTTGGCCATTATCTC 0.592 27 79 --- --- --- --- PASS NID1 4811 broad.mit.edu 37 1 236154191 236154191 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:236154191C>A uc001hxo.2 - 14 3025 c.2923G>T c.(2923-2925)GTC>TTC p.V975F NID1_uc009xgd.2_Missense_Mutation_p.V842F|NID1_uc009xgc.2_Missense_Mutation_p.V61F NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 975 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CTCACCGGGACATGAAGGAAC 0.537 24 104 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237777617 237777617 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:237777617C>T uc001hyl.1 + 37 5309 c.5189C>T c.(5188-5190)ACG>ATG p.T1730M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1730 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTCCCCATGACGGAGGAGACG 0.547 13 50 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240497231 240497231 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:240497231C>T uc010pyd.1 + 12 4854 c.4629C>T c.(4627-4629)CTC>CTT p.L1543L FMN2_uc010pye.1_Silent_p.L1547L|FMN2_uc010pyf.1_Silent_p.L189L|FMN2_uc010pyg.1_Silent_p.L139L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1543 FH2. 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) CGTATTATCTCCGAAATTTTG 0.279 15 17 --- --- --- --- PASS OR2C3 81472 broad.mit.edu 37 1 247695527 247695527 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:247695527C>A uc009xgy.2 - 2 649 c.287G>T c.(286-288)GGA>GTA p.G96V C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CACACACCCTCCATAGCTTAT 0.562 30 19 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875412 247875412 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:247875412C>A uc001idj.1 - 1 646 c.646G>T c.(646-648)GTC>TTC p.V216F NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ACATAGGAGACAAAGGTGATG 0.552 84 65 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247921568 247921568 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:247921568C>T uc010pza.1 - 1 141 c.141G>A c.(139-141)GCG>GCA p.A47A NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGCCAATCGTCGCAATGATGA 0.488 15 29 --- --- --- --- PASS OR2L2 26246 broad.mit.edu 37 1 248201674 248201674 + Silent SNP A T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:248201674A>T uc001idw.2 + 1 201 c.105A>T c.(103-105)CTA>CTT p.L35L OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCATTTTCCTAATGGCTCTAA 0.373 172 108 --- --- --- --- PASS OR2L3 391192 broad.mit.edu 37 1 248224524 248224524 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:248224524C>A uc001idx.1 + 1 541 c.541C>A c.(541-543)CCA>ACA p.P181T OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTGTGATGTCCCAGCAATGGT 0.463 102 114 --- --- --- --- PASS CAPN13 92291 broad.mit.edu 37 2 30998886 30998886 + Silent SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:30998886C>A uc002rnn.2 - 4 473 c.297G>T c.(295-297)CTG>CTT p.L99L CAPN13_uc002rnp.1_Silent_p.L99L NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 99 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TCAAGGATCCCAGTGCTGCCA 0.517 38 11 --- --- --- --- PASS CD207 50489 broad.mit.edu 37 2 71060081 71060081 + Missense_Mutation SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:71060081A>G uc002shg.2 - 4 714 c.667T>C c.(667-669)TGT>CGT p.C223R NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 223 C-type lectin.|Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 CTGGACACACAGAACTGCTCG 0.507 52 48 --- --- --- --- PASS DCTN1 1639 broad.mit.edu 37 2 74597355 74597355 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:74597355C>A uc002skx.2 - 12 1556 c.1245G>T c.(1243-1245)GAG>GAT p.E415D DCTN1_uc002skv.2_Missense_Mutation_p.E281D|DCTN1_uc002sku.2_Missense_Mutation_p.E281D|DCTN1_uc002skw.1_Missense_Mutation_p.E391D|DCTN1_uc010ffd.2_Missense_Mutation_p.E395D|DCTN1_uc002sky.2_Missense_Mutation_p.E378D NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 415 Potential. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 CCTGGCTTAGCTCCTCCTGCA 0.562 52 83 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79385837 79385837 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:79385837C>A uc002sod.1 - 2 390 c.135G>T c.(133-135)AAG>AAT p.K45N REG3A_uc002soe.1_Missense_Mutation_p.K45N|REG3A_uc002sof.1_Missense_Mutation_p.K45N NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 45 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 AGCCATAGGCCTTGGAGCCTT 0.547 21 47 --- --- --- --- PASS MAP4K4 9448 broad.mit.edu 37 2 102460599 102460599 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:102460599C>T uc002tbg.2 + 12 1114 c.1059C>T c.(1057-1059)CGC>CGT p.R353R MAP4K4_uc002tbc.2_Silent_p.R353R|MAP4K4_uc002tbd.2_Silent_p.R353R|MAP4K4_uc002tbe.2_Silent_p.R353R|MAP4K4_uc002tbf.2_Silent_p.R353R|MAP4K4_uc010yvy.1_Silent_p.R353R|MAP4K4_uc002tbh.2_Silent_p.R353R|MAP4K4_uc002tbi.2_Silent_p.R206R|MAP4K4_uc010yvz.1_Silent_p.R333R|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Silent_p.R249R NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 353 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CTACTCTTCGCCGAGATTTCC 0.512 17 23 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109398838 109398838 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:109398838G>T uc002tem.3 + 27 9141 c.9015G>T c.(9013-9015)TGG>TGT p.W3005C NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 3005 RanBD1 4. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CTTTAGTTTGGACTGCCTCAG 0.303 65 112 --- --- --- --- PASS SCTR 6344 broad.mit.edu 37 2 120221813 120221813 + Silent SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:120221813G>A uc002tma.2 - 6 748 c.522C>T c.(520-522)CGC>CGT p.R174R SCTR_uc002tlz.2_5'UTR NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 174 Cytoplasmic (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) GGATGTAGTTGCGAGTGCAGT 0.577 42 45 --- --- --- --- PASS PTPN4 5775 broad.mit.edu 37 2 120723183 120723183 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:120723183G>T uc002tmf.1 + 25 3291 c.2520G>T c.(2518-2520)AAG>AAT p.K840N PTPN4_uc010flj.1_Missense_Mutation_p.K553N|PTPN4_uc010yyr.1_Missense_Mutation_p.K473N NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 840 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) TACGAAACAAGAGGGCTGGCA 0.443 54 111 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162762167 162762167 + Silent SNP A C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:162762167A>C uc002ubx.3 + 15 1951 c.1767A>C c.(1765-1767)TCA>TCC p.S589S SLC4A10_uc002uby.3_Silent_p.S559S|SLC4A10_uc010zcs.1_Silent_p.S570S NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 589 Extracellular (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 ATGGGCTGTCATACCTATCTT 0.403 92 116 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166870302 166870302 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:166870302C>A uc010zcz.1 - 18 3642 c.3624G>T c.(3622-3624)TGG>TGT p.W1208C SCN1A_uc002udo.3_Missense_Mutation_p.W1088C|SCN1A_uc010fpk.2_Missense_Mutation_p.W1060C NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1219 III.|Helical; Name=S1 of repeat III; (By similarity). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGGTCTCAAACCAGTTATGTT 0.383 50 60 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166870303 166870303 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:166870303C>A uc010zcz.1 - 18 3641 c.3623G>T c.(3622-3624)TGG>TTG p.W1208L SCN1A_uc002udo.3_Missense_Mutation_p.W1088L|SCN1A_uc010fpk.2_Missense_Mutation_p.W1060L NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1219 III.|Helical; Name=S1 of repeat III; (By similarity). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGTCTCAAACCAGTTATGTTC 0.388 50 61 --- --- --- --- PASS KIAA1715 80856 broad.mit.edu 37 2 176829140 176829140 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:176829140C>T uc002ukc.1 - 8 646 c.453G>A c.(451-453)CCG>CCA p.P151P KIAA1715_uc010zer.1_Silent_p.P151P|KIAA1715_uc010fqw.1_Silent_p.P217P|KIAA1715_uc010zes.1_Silent_p.P153P|KIAA1715_uc002ukd.1_Silent_p.P28P|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 151 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) CAGCAGATGGCGGCTCACACT 0.378 46 86 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179456980 179456980 + Missense_Mutation SNP A T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:179456980A>T uc010zfg.1 - 251 52171 c.51947T>A c.(51946-51948)CTG>CAG p.L17316Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L11011Q|TTN_uc010zfi.1_Missense_Mutation_p.L10944Q|TTN_uc010zfj.1_Missense_Mutation_p.L10819Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18243 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) ACTGACTTCCAGATCTCTAGG 0.323 16 24 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179612491 179612491 + Missense_Mutation SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:179612491A>G uc002unb.2 - 46 14860 c.14636T>C c.(14635-14637)ATA>ACA p.I4879T TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 1002 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) ACTAGTTTCTATCATTTCTCC 0.358 48 44 --- --- --- --- PASS SSFA2 6744 broad.mit.edu 37 2 182780263 182780263 + Silent SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:182780263G>A uc002uoi.2 + 11 2218 c.1896G>A c.(1894-1896)GAG>GAA p.E632E SSFA2_uc002uoh.2_Silent_p.E632E|SSFA2_uc002uoj.2_Silent_p.E632E|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Silent_p.E479E|SSFA2_uc002uol.2_Silent_p.E479E|SSFA2_uc002uom.2_Silent_p.E100E NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 632 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TTCCAGCAGAGACAGTAGAGC 0.413 40 69 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189859285 189859285 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:189859285G>T uc002uqj.1 + 19 1429 c.1312G>T c.(1312-1314)GGT>TGT p.G438C NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 438 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGTAAGAATGGTGCCAAAGG 0.393 30 57 --- --- --- --- PASS GLS 2744 broad.mit.edu 37 2 191792047 191792047 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:191792047G>A uc002usf.2 + 12 1528 c.1264G>A c.(1264-1266)GTG>ATG p.V422M GLS_uc002use.2_Missense_Mutation_p.V422M|GLS_uc002usg.1_Missense_Mutation_p.V83M|GLS_uc002ush.2_Missense_Mutation_p.V83M|GLS_uc010zgi.1_Translation_Start_Site|GLS_uc010zgj.1_5'Flank NM_014905 NP_055720 O94925 GLSK_HUMAN glutaminase precursor 422 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTCCATTGAAGTGACTTGTGA 0.383 27 39 --- --- --- --- PASS MPP4 58538 broad.mit.edu 37 2 202547600 202547600 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:202547600C>A uc002uyk.3 - 8 822 c.614G>T c.(613-615)GGA>GTA p.G205V MPP4_uc010ftj.2_Missense_Mutation_p.G205V|MPP4_uc010zhq.1_Missense_Mutation_p.G205V|MPP4_uc010zhr.1_Missense_Mutation_p.G205V|MPP4_uc010zhs.1_Missense_Mutation_p.G161V|MPP4_uc002uyj.3_Missense_Mutation_p.G161V|MPP4_uc010zht.1_Missense_Mutation_p.G178V|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.G205V|MPP4_uc002uym.1_Missense_Mutation_p.G174V|MPP4_uc002uyn.2_Missense_Mutation_p.G161V NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 205 PDZ. cytoplasm protein binding 0 AACTGAAACTCCATTCACTTC 0.383 70 91 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206165256 206165256 + Missense_Mutation SNP T A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:206165256T>A uc002var.1 + 17 2395 c.2188T>A c.(2188-2190)TCT>ACT p.S730T PARD3B_uc010fub.1_Missense_Mutation_p.S730T|PARD3B_uc002vao.1_Missense_Mutation_p.S730T|PARD3B_uc002vap.1_Missense_Mutation_p.S668T|PARD3B_uc002vaq.1_Intron NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 730 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TTTTCCAGAATCTCCAAGCAA 0.458 83 146 --- --- --- --- PASS ZNF142 7701 broad.mit.edu 37 2 219507362 219507362 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:219507362C>T uc002vin.2 - 8 4313 c.3877G>A c.(3877-3879)GCC>ACC p.A1293T ZNF142_uc002vil.2_Missense_Mutation_p.A1254T|ZNF142_uc010fvt.2_Missense_Mutation_p.A1130T|ZNF142_uc002vim.2_Missense_Mutation_p.A1130T NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1293 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CTGAACTGGGCTTCACACTGG 0.592 49 72 --- --- --- --- PASS ANKMY1 51281 broad.mit.edu 37 2 241468618 241468618 + Silent SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr2:241468618C>A uc002vyz.1 - 4 751 c.522G>T c.(520-522)TCG>TCT p.S174S ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Silent_p.S263S|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 174 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) CACTGTTGGTCGAGTAGACAT 0.502 45 53 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19492675 19492675 + Missense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:19492675G>C uc003cbk.1 + 10 1799 c.1604G>C c.(1603-1605)CGT>CCT p.R535P KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_3'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 535 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 GATGAACTGCGTTCTGACATC 0.438 135 29 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38805051 38805051 + Silent SNP T G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:38805051T>G uc003ciq.2 - 5 636 c.636A>C c.(634-636)TCA>TCC p.S212S NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 212 I. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCCGCAGGCCTGAGATCCCAC 0.428 70 12 --- --- --- --- PASS DHFRL1 200895 broad.mit.edu 37 3 93779797 93779797 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:93779797C>T uc003dri.2 - 2 725 c.559G>A c.(559-561)GAT>AAT p.D187N DHFRL1_uc003drj.2_Missense_Mutation_p.D187N|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank NM_176815 NP_789785 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 187 glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process dihydrofolate reductase activity|NADP binding 0 TCATATTAATCATCCTTCTCA 0.383 52 12 --- --- --- --- PASS ZNF80 7634 broad.mit.edu 37 3 113955305 113955305 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:113955305C>T uc010hqo.2 - 1 1121 c.617G>A c.(616-618)CGA>CAA p.R206Q ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 206 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) CATACTATGTCGGAAGAAAAC 0.493 59 14 --- --- --- --- PASS CCDC48 79825 broad.mit.edu 37 3 128757707 128757707 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:128757707C>T uc011bkt.1 + 7 1624 c.1624C>T c.(1624-1626)CTG>TTG p.L542L NM_024768 NP_079044 Q9HA90 CCD48_HUMAN coiled-coil domain containing 48 542 0 GAAGATTTTGCTGAGCACGCT 0.547 94 13 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 143551032 143551032 + Silent SNP A G G rs112237207 TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:143551032A>G uc003evn.2 - 2 389 c.207T>C c.(205-207)GCT>GCC p.A69A SLC9A9_uc011bnk.1_Intron NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 69 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 TTGGTGCTGTAGCATATCGTA 0.348 20 41 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154802012 154802012 + Missense_Mutation SNP A T T rs148334392 TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:154802012A>T uc010hvr.1 + 2 267 c.56A>T c.(55-57)AAG>ATG p.K19M MME_uc003fab.1_Missense_Mutation_p.K19M|MME_uc003fac.1_Missense_Mutation_p.K19M|MME_uc003fad.1_Missense_Mutation_p.K19M|MME_uc003fae.1_Missense_Mutation_p.K19M NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 19 Cytoplasmic (Potential).|Stop-transfer sequence (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CCAAAGCCAAAGAAGAAACAG 0.418 140 27 --- --- --- --- PASS MAP3K13 9175 broad.mit.edu 37 3 185155322 185155322 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:185155322G>A uc010hyf.2 + 4 829 c.563G>A c.(562-564)CGG>CAG p.R188Q MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Missense_Mutation_p.R44Q|MAP3K13_uc003fpi.2_Missense_Mutation_p.R188Q|MAP3K13_uc010hyg.2_Intron NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 188 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GGCAAGTTCCGGGCGGAAGAG 0.507 40 527 --- --- --- --- PASS MAP3K13 9175 broad.mit.edu 37 3 185184616 185184616 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:185184616G>A uc010hyf.2 + 11 1774 c.1508G>A c.(1507-1509)CGT>CAT p.R503H MAP3K13_uc011brt.1_Missense_Mutation_p.R296H|MAP3K13_uc011bru.1_Missense_Mutation_p.R359H|MAP3K13_uc003fpi.2_Missense_Mutation_p.R503H|MAP3K13_uc010hyg.2_Missense_Mutation_p.R193H NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 503 Leucine-zipper 2. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TTCTGCAGGCGTGAGCAAGCA 0.458 30 395 --- --- --- --- PASS ZNF721 170960 broad.mit.edu 37 4 435561 435561 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:435561C>T uc003gag.2 - 3 3386 c.2695G>A c.(2695-2697)GGC>AGC p.G899S ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G931S|ZNF721_uc010ibe.2_Missense_Mutation_p.G887S NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 899 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 AAGGTTTTGCCACAGTCTCCA 0.383 6 25 --- --- --- --- PASS LDB2 9079 broad.mit.edu 37 4 16504484 16504484 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:16504484C>A uc003goz.2 - 8 1220 c.904G>T c.(904-906)GTA>TTA p.V302L LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Missense_Mutation_p.V300L|LDB2_uc011bxh.1_Missense_Mutation_p.V274L|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Missense_Mutation_p.V177L|LDB2_uc011bxi.1_3'UTR NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 302 LIM-binding domain (LID) (By similarity). LIM domain binding|transcription cofactor activity 0 GGCTCTCCTACCACCATCACA 0.488 13 116 --- --- --- --- PASS KCNIP4 80333 broad.mit.edu 37 4 20852181 20852181 + Nonsense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:20852181G>C uc003gqe.2 - 2 306 c.222C>G c.(220-222)TAC>TAG p.Y74* KCNIP4_uc003gqf.1_Nonsense_Mutation_p.Y70*|KCNIP4_uc003gqg.1_Nonsense_Mutation_p.Y29*|KCNIP4_uc003gqh.1_Nonsense_Mutation_p.Y66*|KCNIP4_uc003gqi.1_Nonsense_Mutation_p.Y29*|KCNIP4_uc010iel.2_Nonsense_Mutation_p.Y71*|KCNIP4_uc003gqd.3_Nonsense_Mutation_p.Y54* NM_147182 NP_671711 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 isoform 3 91 EF-hand 1; degenerate. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity 0 Breast(46;0.134) TAAATCCTCTGTAAAGGATCT 0.438 121 62 --- --- --- --- PASS GPR125 166647 broad.mit.edu 37 4 22389781 22389781 + Silent SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:22389781G>A uc003gqm.1 - 19 3778 c.3513C>T c.(3511-3513)CAC>CAT p.H1171H GPR125_uc010ieo.1_Silent_p.H1027H|GPR125_uc003gql.1_Silent_p.H298H NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 1171 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) TGTTTTTATGGTGGCGGCTTG 0.463 15 65 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47605631 47605631 + Silent SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:47605631A>G uc003gxm.2 - 20 2688 c.2595T>C c.(2593-2595)CAT>CAC p.H865H CORIN_uc011bzf.1_Silent_p.H726H|CORIN_uc011bzg.1_Silent_p.H798H NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 865 Extracellular (Potential).|Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 ACACTGATGGATGGTCTAGAT 0.443 43 43 --- --- --- --- PASS CNOT6L 246175 broad.mit.edu 37 4 78695839 78695839 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:78695839C>A uc011ccd.1 - 3 290 c.159G>T c.(157-159)TGG>TGT p.W53C CNOT6L_uc003hks.2_Missense_Mutation_p.W53C|CNOT6L_uc011cce.1_Missense_Mutation_p.W53C NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 53 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 GTGTCAATGACCAAAGTGATG 0.428 25 22 --- --- --- --- PASS PPA2 27068 broad.mit.edu 37 4 106359127 106359127 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:106359127C>T uc003hxl.2 - 6 528 c.508G>A c.(508-510)GTT>ATT p.V170I PPA2_uc003hxm.2_Missense_Mutation_p.V152I|PPA2_uc003hxn.2_Intron|PPA2_uc003hxo.2_Intron|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Missense_Mutation_p.V77I|PPA2_uc003hxr.2_Missense_Mutation_p.V77I|PPA2_uc011cfa.1_Missense_Mutation_p.V77I NM_176869 NP_789845 Q9H2U2 IPYR2_HUMAN inorganic pyrophosphatase 2 isoform 1 precursor 170 diphosphate metabolic process|tRNA aminoacylation for protein translation mitochondrial matrix inorganic diphosphatase activity|magnesium ion binding pancreas(1) 1 Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.03e-07) ATTTCGCAAACATCAATAGGA 0.313 29 9 --- --- --- --- PASS PDE5A 8654 broad.mit.edu 37 4 120474846 120474846 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:120474846T>C uc003idh.2 - 8 1410 c.1255A>G c.(1255-1257)ATG>GTG p.M419V PDE5A_uc003idf.2_Missense_Mutation_p.M377V|PDE5A_uc003idg.2_Missense_Mutation_p.M367V NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 419 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AGTGGTTCCATAGTATTTTTG 0.353 63 94 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151509200 151509200 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:151509200C>A uc010ipj.2 - 41 6837 c.6363G>T c.(6361-6363)AAG>AAT p.K2121N LRBA_uc003ilt.3_Missense_Mutation_p.K769N|LRBA_uc003ilu.3_Missense_Mutation_p.K2110N NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2121 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) ATCTTCTCACCTTGGGGTCGA 0.438 154 261 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155253927 155253927 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:155253927G>A uc003inw.2 - 9 1936 c.1936C>T c.(1936-1938)CGG>TGG p.R646W DCHS2_uc003inx.2_Missense_Mutation_p.R1145W NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 646 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AACTGTCGCCGCAAATAAATC 0.502 4 93 --- --- --- --- PASS ANP32C 23520 broad.mit.edu 37 4 165118456 165118456 + Silent SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:165118456C>A uc011cjk.1 - 1 408 c.408G>T c.(406-408)CTG>CTT p.L136L MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 136 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) ATGTGAGTTGCAGGAGAAGCT 0.502 57 21 --- --- --- --- PASS CMBL 134147 broad.mit.edu 37 5 10290792 10290792 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:10290792T>C uc003jes.2 - 2 534 c.83A>G c.(82-84)GAG>GGG p.E28G NM_138809 NP_620164 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase 28 cytosol hydrolase activity|protein binding skin(1) 1 CTTGATGTGCTCGACTTGAAC 0.473 156 368 --- --- --- --- PASS ROPN1L 83853 broad.mit.edu 37 5 10450186 10450186 + Missense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:10450186G>C uc003jex.3 + 3 649 c.378G>C c.(376-378)TGG>TGC p.W126C NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 126 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 AAATCAAGTGGATAAACTTTT 0.388 80 191 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19483655 19483655 + Missense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:19483655G>C uc003jgc.2 - 11 2014 c.1637C>G c.(1636-1638)ACA>AGA p.T546R CDH18_uc003jgd.2_Missense_Mutation_p.T546R|CDH18_uc011cnm.1_Intron NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 546 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AATGCTGGCTGTGTTATCTAT 0.408 38 79 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24535924 24535924 + Silent SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:24535924A>G uc003jgr.1 - 4 866 c.534T>C c.(532-534)TCT>TCC p.S178S CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 178 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CTTGCACCACAGAAGTACCTG 0.458 HNSCC(23;0.051) 37 55 --- --- --- --- PASS CAPSL 133690 broad.mit.edu 37 5 35921087 35921087 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:35921087T>C uc003jjt.1 - 2 231 c.136A>G c.(136-138)AGA>GGA p.R46G CAPSL_uc003jju.1_Missense_Mutation_p.R46G NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 46 EF-hand 1. cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) GGGTCCTACCTGCCAAGTCCT 0.433 48 84 --- --- --- --- PASS LMBRD2 92255 broad.mit.edu 37 5 36114583 36114583 + Missense_Mutation SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:36114583C>G uc003jkb.1 - 13 1998 c.1583G>C c.(1582-1584)GGA>GCA p.G528A NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 528 Helical; (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TATATAGAATCCATCTGCAAT 0.303 66 95 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41052595 41052595 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:41052595G>T uc003jmj.3 - 12 1692 c.1202C>A c.(1201-1203)TCC>TAC p.S401Y HEATR7B2_uc003jmi.3_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 401 binding ovary(6)|central_nervous_system(2) 8 TGCAAACTGGGAGAAGACATA 0.398 52 70 --- --- --- --- PASS IQGAP2 10788 broad.mit.edu 37 5 75950761 75950761 + Silent SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:75950761T>C uc003kek.2 + 20 2475 c.2253T>C c.(2251-2253)AAT>AAC p.N751N IQGAP2_uc010izv.2_Silent_p.N304N|IQGAP2_uc011csv.1_Silent_p.N247N|IQGAP2_uc003kel.2_Silent_p.N247N NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 751 IQ 3. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TTTTGCAGAATAATGAAATTG 0.358 3 66 --- --- --- --- PASS KLHL3 26249 broad.mit.edu 37 5 136961565 136961565 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:136961565G>A uc010jek.2 - 14 2056 c.1612C>T c.(1612-1614)CTC>TTC p.L538F KLHL3_uc011cyc.1_Missense_Mutation_p.L273F|KLHL3_uc003lbr.3_Missense_Mutation_p.L456F|KLHL3_uc011cyd.1_RNA NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN kelch-like 3 538 cytoplasm|cytoskeleton actin binding|structural molecule activity 0 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) ACATACAGGAGCCCATTTACT 0.483 46 17 --- --- --- --- PASS KDM3B 51780 broad.mit.edu 37 5 137708464 137708464 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:137708464G>T uc003lcy.1 + 2 494 c.294G>T c.(292-294)TGG>TGT p.W98C KDM3B_uc010jew.1_5'UTR NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 98 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 CTCTTGTATGGGCGCCCCGTG 0.517 5 75 --- --- --- --- PASS PCDHB2 56133 broad.mit.edu 37 5 140475752 140475752 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:140475752C>A uc003lil.2 + 1 1516 c.1378C>A c.(1378-1380)CTG>ATG p.L460M PCDHB2_uc003lim.1_Missense_Mutation_p.L121M NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 460 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCTACACCCTGTTCGTCCG 0.622 38 129 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140573497 140573497 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:140573497C>A uc003lix.2 + 1 1546 c.1372C>A c.(1372-1374)CTG>ATG p.L458M NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 458 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCTACACCCTGTTCGTCCG 0.617 47 11 --- --- --- --- PASS TIMD4 91937 broad.mit.edu 37 5 156378594 156378594 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr5:156378594C>T uc003lwh.2 - 3 665 c.608G>A c.(607-609)AGC>AAC p.S203N TIMD4_uc010jii.2_Missense_Mutation_p.S203N NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 203 Extracellular (Potential).|Thr-rich. integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGGAAGGGTGCTTGGGGTTAG 0.537 72 15 --- --- --- --- PASS HIST1H1C 3006 broad.mit.edu 37 6 26056542 26056542 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:26056542G>A uc003nfw.2 - 1 158 c.115C>T c.(115-117)CCG>TCG p.P39S NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 39 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 TCTGACACCGGGGGACCAGAC 0.627 22 86 --- --- --- --- PASS HIST1H1C 3006 broad.mit.edu 37 6 26056543 26056543 + Silent SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:26056543G>A uc003nfw.2 - 1 157 c.114C>T c.(112-114)CCC>CCT p.P38P NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 38 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 CTGACACCGGGGGACCAGACG 0.632 22 85 --- --- --- --- PASS BTN3A3 10384 broad.mit.edu 37 6 26446185 26446185 + Silent SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:26446185G>T uc003nhz.2 + 5 867 c.687G>T c.(685-687)CTG>CTT p.L229L BTN3A3_uc003nia.2_Silent_p.L187L|BTN3A3_uc011dkn.1_Silent_p.L187L NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 229 Extracellular (Potential).|Ig-like V-type 2. integral to membrane 0 TCCTCGGCCTGGAAAAGACAG 0.547 95 85 --- --- --- --- PASS HIST1H1B 3009 broad.mit.edu 37 6 27835194 27835194 + Silent SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:27835194C>A uc003njx.2 - 1 166 c.114G>T c.(112-114)GCG>GCT p.A38A NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 38 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 GGGGCCCCGTCGCTTTGCGCT 0.627 85 63 --- --- --- --- PASS ZFP57 346171 broad.mit.edu 37 6 29640508 29640508 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:29640508C>A uc011dlw.1 - 4 1531 c.1380G>T c.(1378-1380)AGG>AGT p.R460S ZFP57_uc003nnl.3_Missense_Mutation_p.R440S NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 376 C2H2-type 7; degenerate. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 CTTTATAGCCCCTCCAGTGAT 0.557 42 82 --- --- --- --- PASS C6orf136 221545 broad.mit.edu 37 6 30619233 30619233 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:30619233G>A uc003nqw.3 + 4 947 c.754G>A c.(754-756)GAG>AAG p.E252K C6orf136_uc003nqx.3_Missense_Mutation_p.E433K|C6orf136_uc011dmn.1_Missense_Mutation_p.E118K NM_001109938 NP_001103408 Q5SQH8 CF136_HUMAN hypothetical protein LOC221545 isoform 1 252 0 TGACAAAGACGAGCATTACCG 0.408 188 172 --- --- --- --- PASS BTNL2 56244 broad.mit.edu 37 6 32372966 32372966 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:32372966C>T uc003obg.1 - 2 177 c.177G>A c.(175-177)ATG>ATA p.M59I BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Intron NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 59 Ig-like V-type 1.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 CCTCCACGTGCATTGTGGTCC 0.562 77 109 --- --- --- --- PASS MOCS1 4337 broad.mit.edu 37 6 39881098 39881098 + Silent SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:39881098G>T uc003opb.2 - 5 858 c.720C>A c.(718-720)CCC>CCA p.P240P MOCS1_uc003opa.2_Silent_p.P240P|MOCS1_uc003opc.2_Silent_p.P240P|MOCS1_uc003opd.2_Silent_p.P240P|MOCS1_uc003ope.2_Silent_p.P153P NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 240 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) GCACATCCAGGGGGAGGCCCT 0.572 19 72 --- --- --- --- PASS RUNX2 860 broad.mit.edu 37 6 45405763 45405763 + Silent SNP A C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:45405763A>C uc011dvx.1 + 5 870 c.660A>C c.(658-660)ACA>ACC p.T220T RUNX2_uc011dvy.1_Silent_p.T220T|RUNX2_uc003oxt.2_Silent_p.T206T NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 220 Runt. T -> I (in CLCD; has severely impaired DNA binding and transactivation). negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 TTAAAGTTACAGTAGATGGAC 0.408 89 144 --- --- --- --- PASS ENPP5 59084 broad.mit.edu 37 6 46135373 46135373 + Silent SNP T A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:46135373T>A uc003oxz.1 - 2 835 c.627A>T c.(625-627)TCA>TCT p.S209S ENPP5_uc003oya.1_Silent_p.S209S|ENPP5_uc011dvz.1_Silent_p.S115S|ENPP5_uc010jzc.1_Silent_p.S209S NM_021572 NP_067547 Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 209 extracellular region|integral to membrane hydrolase activity 0 TGTCAATATCTGAAATGACAG 0.443 75 71 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100895281 100895281 + Missense_Mutation SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:100895281C>G uc003pqj.3 - 8 1068 c.861G>C c.(859-861)AAG>AAC p.K287N SIM1_uc010kcu.2_Missense_Mutation_p.K287N NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 287 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TCACCTGTCCCTTCACCAGCA 0.592 30 36 --- --- --- --- PASS AHI1 54806 broad.mit.edu 37 6 135811852 135811852 + Missense_Mutation SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:135811852C>G uc003qgi.2 - 5 428 c.44G>C c.(43-45)CGC>CCC p.R15P AHI1_uc003qgh.2_Missense_Mutation_p.R15P|AHI1_uc003qgj.2_Missense_Mutation_p.R15P|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.R15P NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 15 Potential. adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TTCTTCAAAGCGAACTTTGGT 0.353 112 124 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152718077 152718077 + Silent SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr6:152718077A>G uc010kiw.2 - 50 7991 c.7389T>C c.(7387-7389)CTT>CTC p.L2463L SYNE1_uc003qot.3_Silent_p.L2470L|SYNE1_uc003qou.3_Silent_p.L2463L|SYNE1_uc010kjb.1_Silent_p.L2446L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2463 Spectrin 4.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCACTGCATCAAGTTTGCTCT 0.388 HNSCC(10;0.0054) 76 65 --- --- --- --- PASS SP4 6671 broad.mit.edu 37 7 21469180 21469180 + Missense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:21469180G>C uc003sva.2 + 3 578 c.397G>C c.(397-399)GGG>CGG p.G133R SP4_uc003svb.2_5'UTR NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 133 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 CAGTAATAACGGGAGTGCATC 0.428 45 11 --- --- --- --- PASS SCRN1 9805 broad.mit.edu 37 7 29966073 29966073 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:29966073C>A uc010kvp.2 - 6 1285 c.1081G>T c.(1081-1083)GAC>TAC p.D361Y SCRN1_uc011jzy.1_Missense_Mutation_p.D293Y|SCRN1_uc003tak.2_Missense_Mutation_p.D361Y|SCRN1_uc011jzz.1_Missense_Mutation_p.D361Y|SCRN1_uc011kaa.1_Missense_Mutation_p.D381Y|SCRN1_uc011jzw.1_Missense_Mutation_p.D228Y|SCRN1_uc011jzx.1_Missense_Mutation_p.D184Y NM_001145515 NP_001138987 Q12765 SCRN1_HUMAN secernin 1 isoform c 361 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity ovary(2) 2 CTCACCTGGTCACTTTCGATG 0.622 95 21 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48285534 48285534 + Silent SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:48285534C>A uc003toq.2 + 13 1591 c.1566C>A c.(1564-1566)TCC>TCA p.S522S ABCA13_uc010kyr.2_Silent_p.S25S NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 522 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTGGAAACTCCAGCATATGGG 0.463 41 5 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57188389 57188389 + Nonsense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:57188389C>A uc010kzo.2 - 5 1004 c.733G>T c.(733-735)GAA>TAA p.E245* NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 245 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TTGCCACATTCCTCACATCTA 0.408 28 15 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 71130455 71130455 + Missense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:71130455G>C uc003tvy.2 + 7 1140 c.1140G>C c.(1138-1140)GAG>GAC p.E380D WBSCR17_uc003tvz.2_Missense_Mutation_p.E79D NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 380 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCCACATTGAGCGGAAGAAGA 0.493 76 118 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82455955 82455955 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:82455955C>T uc003uhx.2 - 18 14654 c.14365G>A c.(14365-14367)GTG>ATG p.V4789M PCLO_uc003uhv.2_Missense_Mutation_p.V4789M|PCLO_uc003uht.1_Missense_Mutation_p.V231M|PCLO_uc003uhu.1_Missense_Mutation_p.V210M NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4651 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CAAACTGTCACCTCCAGTGTT 0.363 41 94 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965803 88965803 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:88965803G>T uc011khi.1 + 4 4045 c.3507G>T c.(3505-3507)ATG>ATT p.M1169I NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1169 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) AGCAGCATATGCAGAAGCAAC 0.458 HNSCC(36;0.09) 39 68 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965804 88965804 + Nonsense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:88965804C>T uc011khi.1 + 4 4046 c.3508C>T c.(3508-3510)CAG>TAG p.Q1170* NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1170 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) GCAGCATATGCAGAAGCAACT 0.458 HNSCC(36;0.09) 39 66 --- --- --- --- PASS CYP3A43 64816 broad.mit.edu 37 7 99457596 99457596 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:99457596G>A uc003urx.1 + 10 1112 c.1009G>A c.(1009-1011)GCA>ACA p.A337T CYP3A43_uc003ury.1_Missense_Mutation_p.A337T|CYP3A43_uc003urz.1_Missense_Mutation_p.A337T|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Missense_Mutation_p.A227T|CYP3A43_uc003usb.1_Missense_Mutation_p.A197T NM_057095 NP_476436 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, 337 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) GGAGATTGACGCAGTTTTACC 0.498 60 69 --- --- --- --- PASS ZNF425 155054 broad.mit.edu 37 7 148801240 148801240 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:148801240T>C uc003wfj.2 - 4 1796 c.1723A>G c.(1723-1725)ATG>GTG p.M575V NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 575 C2H2-type 13. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TCCCTGTGCATCCGCTGGTGG 0.597 29 50 --- --- --- --- PASS KRBA1 84626 broad.mit.edu 37 7 149421860 149421860 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:149421860C>T uc003wfz.2 + 9 1445 c.1046C>T c.(1045-1047)CCT>CTT p.P349L KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.P17L NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 349 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCCTGTCAGCCTGGCAGGCAG 0.567 4 0 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151962204 151962204 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:151962204C>A uc003wla.2 - 8 1322 c.1103G>T c.(1102-1104)GGA>GTA p.G368V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 368 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CAGGCACATTCCATGATAGTG 0.438 N medulloblastoma 37 497 --- --- --- --- PASS CNPY1 285888 broad.mit.edu 37 7 155301605 155301605 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr7:155301605C>A uc003wmc.1 - 2 273 c.128G>T c.(127-129)AGA>ATA p.R43I NM_001103176 NP_001096646 Q3B7I2 CNPY1_HUMAN canopy 1 homolog 43 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TTTCAAAGGTCTGTAAGCATC 0.358 36 6 --- --- --- --- PASS CSGALNACT1 55790 broad.mit.edu 37 8 19362938 19362938 + Silent SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr8:19362938G>C uc011kyn.1 - 4 1472 c.408C>G c.(406-408)GGC>GGG p.G136G CSGALNACT1_uc011kyo.1_Silent_p.G136G|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.G135G|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 136 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) CCAGCTTGACGCCAGCATTCA 0.607 59 11 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39627070 39627070 + Silent SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr8:39627070A>G uc003xnj.2 - 12 1128 c.1053T>C c.(1051-1053)TTT>TTC p.F351F ADAM2_uc003xnk.2_Silent_p.F332F|ADAM2_uc011lck.1_Silent_p.F351F|ADAM2_uc003xnl.2_Silent_p.F225F NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 351 Extracellular (Potential).|Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TGCAGTTACTAAAGATCTTCA 0.368 27 54 --- --- --- --- PASS C8orf38 137682 broad.mit.edu 37 8 96070046 96070046 + Missense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr8:96070046G>C uc003yhj.2 + 9 899 c.883G>C c.(883-885)GAG>CAG p.E295Q C8orf38_uc003yhf.2_Missense_Mutation_p.E203Q|C8orf38_uc011lgs.1_Intron|C8orf38_uc003yhi.2_Missense_Mutation_p.E243Q|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Missense_Mutation_p.E203Q NM_152416 NP_689629 Q330K2 CH038_HUMAN hypothetical protein LOC137682 precursor 295 biosynthetic process mitochondrion transferase activity 0 Breast(36;3.32e-06) GGTTTCTCTAGAGGACTTTCT 0.284 40 98 --- --- --- --- PASS DPYS 1807 broad.mit.edu 37 8 105393524 105393524 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr8:105393524C>A uc003yly.3 - 9 1591 c.1462G>T c.(1462-1464)GTG>TTG p.V488L DPYS_uc010mcf.1_Missense_Mutation_p.V58L NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 488 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCACGCTCCACAGGGGTAGGT 0.468 163 15 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116631873 116631873 + Missense_Mutation SNP T A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr8:116631873T>A uc003ynz.2 - 2 872 c.413A>T c.(412-414)GAT>GTT p.D138V TRPS1_uc011lhy.1_Missense_Mutation_p.D142V|TRPS1_uc003yny.2_Missense_Mutation_p.D151V|TRPS1_uc010mcy.2_Missense_Mutation_p.D138V NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 138 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GCAGGCCATATCTTGAGGGTC 0.527 Langer-Giedion_syndrome 77 142 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116631874 116631874 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr8:116631874C>A uc003ynz.2 - 2 871 c.412G>T c.(412-414)GAT>TAT p.D138Y TRPS1_uc011lhy.1_Missense_Mutation_p.D142Y|TRPS1_uc003yny.2_Missense_Mutation_p.D151Y|TRPS1_uc010mcy.2_Missense_Mutation_p.D138Y NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 138 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CAGGCCATATCTTGAGGGTCA 0.532 Langer-Giedion_syndrome 76 143 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164914 139164914 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr8:139164914G>T uc003yuy.2 - 13 1975 c.1804C>A c.(1804-1806)CAA>AAA p.Q602K FAM135B_uc003yux.2_Missense_Mutation_p.Q503K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.Q164K|FAM135B_uc003yvb.2_Missense_Mutation_p.Q164K NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 602 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) ATGGCATTTTGGTGGCTTCCA 0.453 HNSCC(54;0.14) 477 37 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164915 139164915 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr8:139164915G>T uc003yuy.2 - 13 1974 c.1803C>A c.(1801-1803)CAC>CAA p.H601Q FAM135B_uc003yux.2_Missense_Mutation_p.H502Q|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.H163Q|FAM135B_uc003yvb.2_Missense_Mutation_p.H163Q NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 601 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) TGGCATTTTGGTGGCTTCCAC 0.458 HNSCC(54;0.14) 480 36 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139165094 139165094 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr8:139165094C>A uc003yuy.2 - 13 1795 c.1624G>T c.(1624-1626)GGT>TGT p.G542C FAM135B_uc003yux.2_Missense_Mutation_p.G443C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G104C|FAM135B_uc003yvb.2_Missense_Mutation_p.G104C NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 542 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) TCCTCTGGACCTGGACTCCTT 0.502 HNSCC(54;0.14) 238 10 --- --- --- --- PASS UNC13B 10497 broad.mit.edu 37 9 35295836 35295836 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr9:35295836C>A uc003zwq.2 + 8 962 c.670C>A c.(670-672)CAG>AAG p.Q224K UNC13B_uc010mkl.1_Missense_Mutation_p.Q224K|UNC13B_uc003zwr.2_Missense_Mutation_p.Q224K NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 224 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GCGATCGCCACAGCAGCTGCT 0.542 22 6 --- --- --- --- PASS C9orf128 392307 broad.mit.edu 37 9 35825345 35825345 + Silent SNP A T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr9:35825345A>T uc010mlc.2 - 3 909 c.624T>A c.(622-624)CCT>CCA p.P208P C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Silent_p.P208P NM_001012446 NP_001012448 A6H8Z2 CI128_HUMAN hypothetical protein LOC392307 208 0 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) TCTGCCTAGCAGGGAACACTG 0.532 62 26 --- --- --- --- PASS NIPSNAP3B 55335 broad.mit.edu 37 9 107535353 107535353 + Nonstop_Mutation SNP A T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr9:107535353A>T uc004bci.2 + 6 814 c.743A>T c.(742-744)TAG>TTG p.*248L NIPSNAP3B_uc004bcj.1_RNA|LOC286367_uc004bck.3_5'Flank NM_018376 NP_060846 Q9BS92 NPS3B_HUMAN nipsnap homolog 3B 248 pancreas(1)|skin(1) 2 CCATTGAAATAGTTTTCTACT 0.363 57 14 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107560766 107560766 + Missense_Mutation SNP T A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr9:107560766T>A uc004bcl.2 - 37 5370 c.5057A>T c.(5056-5058)CAC>CTC p.H1686L NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1686 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAACTGCAGGTGTTTTGCTTT 0.488 84 13 --- --- --- --- PASS WDR31 114987 broad.mit.edu 37 9 116082637 116082637 + Silent SNP C G G rs148709910 TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr9:116082637C>G uc004bhe.2 - 9 1032 c.780G>C c.(778-780)ACG>ACC p.T260T WDR31_uc004bhc.2_Silent_p.T259T|WDR31_uc004bhd.2_Silent_p.T135T|WDR31_uc004bhf.2_RNA NM_001012361 NP_001012361 Q8NA23 WDR31_HUMAN WD repeat domain 31 isoform 1 260 0 AGTCTCCTACCGTGGCTTCAC 0.517 75 19 --- --- --- --- PASS CEP110 11064 broad.mit.edu 37 9 123903707 123903707 + Silent SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr9:123903707G>A uc004bkx.1 + 16 2563 c.2532G>A c.(2530-2532)CAG>CAA p.Q844Q CEP110_uc004bky.1_Silent_p.Q448Q|CEP110_uc004bkz.1_Silent_p.Q292Q|CEP110_uc004bla.1_Silent_p.Q292Q|CEP110_uc010mvo.1_5'Flank NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 844 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 CTGATTTACAGAAACAATTCA 0.393 76 10 --- --- --- --- PASS OR1J1 347168 broad.mit.edu 37 9 125240093 125240093 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr9:125240093G>A uc011lyu.1 - 1 113 c.113C>T c.(112-114)ACG>ATG p.T38M OR1J2_uc004bmj.1_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CCCCAGCACCGTGGTCAGGTA 0.597 11 186 --- --- --- --- PASS GARNL3 84253 broad.mit.edu 37 9 130106616 130106616 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr9:130106616C>A uc011mae.1 + 15 1755 c.1354C>A c.(1354-1356)CAG>AAG p.Q452K GARNL3_uc011mad.1_Missense_Mutation_p.Q430K|GARNL3_uc004bqt.1_Missense_Mutation_p.Q233K NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 452 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 TAGAATAGGGCAGGTGGGTTT 0.483 141 26 --- --- --- --- PASS SPTAN1 6709 broad.mit.edu 37 9 131337068 131337068 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr9:131337068G>T uc004bvl.3 + 4 591 c.478G>T c.(478-480)GAC>TAC p.D160Y SPTAN1_uc011mbg.1_Missense_Mutation_p.D160Y|SPTAN1_uc011mbh.1_Missense_Mutation_p.D172Y|SPTAN1_uc004bvm.3_Missense_Mutation_p.D160Y|SPTAN1_uc004bvn.3_Missense_Mutation_p.D160Y NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 160 Spectrin 3. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AGAATGTGAGGACGTGATGGA 0.473 56 7 --- --- --- --- PASS ADARB2 105 broad.mit.edu 37 10 1230902 1230902 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr10:1230902G>T uc009xhq.2 - 9 2316 c.1942C>A c.(1942-1944)CTG>ATG p.L648M ADARB2_uc009xhp.2_Missense_Mutation_p.L32M|ADARB2_uc001igl.3_Missense_Mutation_p.L10M|ADARB2_uc001igm.3_Missense_Mutation_p.L157M NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 648 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) ATAATCTCCAGGTCCGCGCTG 0.687 25 8 --- --- --- --- PASS PTCHD3 374308 broad.mit.edu 37 10 27703066 27703066 + Silent SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr10:27703066C>G uc001itu.2 - 1 232 c.114G>C c.(112-114)TCG>TCC p.S38S NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 38 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GCTTGCCTTCCGACTCCGATT 0.692 98 129 --- --- --- --- PASS RASSF4 83937 broad.mit.edu 37 10 45486409 45486409 + Silent SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr10:45486409A>G uc001jbo.2 + 9 833 c.699A>G c.(697-699)TTA>TTG p.L233L RASSF4_uc001jbp.2_Silent_p.L264L|RASSF4_uc009xmn.2_Silent_p.L163L|RASSF4_uc001jbq.2_Silent_p.L130L|RASSF4_uc001jbt.2_Silent_p.L190L NM_032023 NP_114412 Q9H2L5 RASF4_HUMAN Ras association domain family 4 233 Ras-associating. cell cycle|signal transduction protein binding large_intestine(1) 1 GGACAAAATTAAAAGACTGCG 0.468 54 21 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49381129 49381129 + Missense_Mutation SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr10:49381129C>G uc001jgi.2 - 25 3190 c.3083G>C c.(3082-3084)AGA>ACA p.R1028T FRMPD2_uc001jgh.2_Missense_Mutation_p.R996T|FRMPD2_uc001jgj.2_Missense_Mutation_p.R1006T|FRMPD2L1_uc001jgf.2_Missense_Mutation_p.R39T|FRMPD2_uc001jgg.2_5'UTR|FRMPD2_uc001jgk.2_5'UTR NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 1028 PDZ 2. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) TAAGACCAGTCTTGCAACCTA 0.473 8 6 --- --- --- --- PASS GLUD1 2746 broad.mit.edu 37 10 88835729 88835729 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr10:88835729T>C uc001keh.2 - 3 675 c.578A>G c.(577-579)TAT>TGT p.Y193C GLUD1_uc001keg.2_Missense_Mutation_p.Y26C|GLUD1_uc010qmp.1_Missense_Mutation_p.Y60C NM_005271 NP_005262 P00367 DHE3_HUMAN glutamate dehydrogenase 1 precursor 193 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding 0 L-Glutamic Acid(DB00142)|NADH(DB00157) ACTTACAGTATAGTTCTTGGG 0.234 73 13 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1253773 1253773 + Nonsense_Mutation SNP C A A rs147470207 by1000genomes TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:1253773C>A uc009ycr.1 + 32 4040 c.3914C>A c.(3913-3915)TCG>TAG p.S1305* MUC5B_uc009yct.1_Nonsense_Mutation_p.S646*|MUC5B_uc001ltb.2_Nonsense_Mutation_p.S649*|MUC5B_uc001lta.2_Nonsense_Mutation_p.S314* NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 646 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCTTCCACTCGGTGAGAGGC 0.687 8 3 --- --- --- --- PASS OR51A4 401666 broad.mit.edu 37 11 4967983 4967983 + Silent SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:4967983G>T uc010qys.1 - 1 348 c.348C>A c.(346-348)GTC>GTA p.V116V NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGATCAGGAGGACTGAGGACT 0.438 144 118 --- --- --- --- PASS LDHAL6A 160287 broad.mit.edu 37 11 18497181 18497181 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:18497181C>T uc001mop.1 + 5 848 c.587C>T c.(586-588)TCA>TTA p.S196L LDHAL6A_uc001moq.2_Missense_Mutation_p.S196L NM_001144071 NP_001137543 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 196 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) CATGGCGACTCAAGTGGTAAG 0.453 273 77 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 31113001 31113001 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:31113001T>C uc009yjk.1 - 5 589 c.520A>G c.(520-522)ATC>GTC p.I174V uc009yjl.1_Missense_Mutation_p.I102V|DCDC1_uc001msu.1_Missense_Mutation_p.I345V RecName: Full=Doublecortin domain-containing protein 5; TTGACTCTGATAGGATGACCA 0.393 11 12 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49179538 49179538 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:49179538T>C uc001ngy.2 - 14 1759 c.1498A>G c.(1498-1500)AAA>GAA p.K500E FOLH1_uc001ngz.2_Missense_Mutation_p.K500E|FOLH1_uc009yly.2_Missense_Mutation_p.K485E|FOLH1_uc009ylz.2_Missense_Mutation_p.K485E|FOLH1_uc009yma.2_Missense_Mutation_p.K192E NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 500 NAALADase.|Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) GAAGGACTTTTTTTAGTCCAA 0.353 73 80 --- --- --- --- PASS OR5D14 219436 broad.mit.edu 37 11 55563598 55563598 + Silent SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:55563598G>T uc010rim.1 + 1 567 c.567G>T c.(565-567)GTG>GTT p.V189V NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TCATCTCTGTGTCTGGCTCTG 0.448 159 209 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55655539 55655539 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:55655539G>T uc010rip.1 + 4 631 c.539G>T c.(538-540)AGA>ATA p.R180I SPRYD5_uc010riq.1_Missense_Mutation_p.R37I NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 180 intracellular zinc ion binding 0 all_epithelial(135;0.226) GAAGCAATCAGAGCTGAATAT 0.393 27 41 --- --- --- --- PASS OR8K5 219453 broad.mit.edu 37 11 55926908 55926908 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:55926908C>T uc010rja.1 - 1 886 c.886G>A c.(886-888)GAG>AAG p.E296K NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TTTTTCACCTCTTCGTTTCTT 0.274 31 53 --- --- --- --- PASS OR5T3 390154 broad.mit.edu 37 11 56019795 56019795 + Silent SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:56019795C>A uc010rjd.1 + 1 120 c.120C>A c.(118-120)ACC>ACA p.T40T NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 40 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) CTGAAGTCACCATGTTTATAT 0.348 59 90 --- --- --- --- PASS OR9Q2 219957 broad.mit.edu 37 11 57958903 57958903 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:57958903C>A uc010rka.1 + 1 941 c.941C>A c.(940-942)CCC>CAC p.P314H NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 314 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) GCTAGAAGACCCTAAATGGAC 0.299 13 51 --- --- --- --- PASS OR9Q2 219957 broad.mit.edu 37 11 57958904 57958904 + Silent SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:57958904C>A uc010rka.1 + 1 942 c.942C>A c.(940-942)CCC>CCA p.P314P NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 314 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) CTAGAAGACCCTAAATGGACC 0.294 13 49 --- --- --- --- PASS BEST1 7439 broad.mit.edu 37 11 61730083 61730083 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:61730083C>A uc001nss.2 + 10 2037 c.1457C>A c.(1456-1458)CCG>CAG p.P486Q BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Missense_Mutation_p.P114Q|BEST1_uc001nsr.2_Missense_Mutation_p.P426Q|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.P426Q|BEST1_uc001nst.2_Missense_Mutation_p.P399Q|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Missense_Mutation_p.P380Q NM_004183 NP_004174 O76090 BEST1_HUMAN bestrophin 1 isoform 1 486 Cytoplasmic (Potential). response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity central_nervous_system(1) 1 CCATCAGCGCCGTCAAAGCTT 0.522 54 38 --- --- --- --- PASS DPP3 10072 broad.mit.edu 37 11 66252646 66252646 + Silent SNP G A A rs146040863 byFrequency TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:66252646G>A uc001oig.1 + 3 335 c.273G>A c.(271-273)GCG>GCA p.A91A DPP3_uc001oif.1_Silent_p.A91A|DPP3_uc010rpe.1_Intron NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 91 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 CCCCTCAGGCGTTCCTGGTCT 0.587 38 26 --- --- --- --- PASS DGAT2 84649 broad.mit.edu 37 11 75509352 75509352 + Missense_Mutation SNP G T T rs140793537 byFrequency TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:75509352G>T uc001oxa.2 + 7 1149 c.890G>T c.(889-891)CGA>CTA p.R297L DGAT2_uc001oxb.2_Missense_Mutation_p.R254L NM_032564 NP_115953 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 297 Cytoplasmic (Potential). glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity 0 Ovarian(111;0.103) TCCTGGGGCCGATGGGTCCAG 0.572 61 171 --- --- --- --- PASS TRIM49 57093 broad.mit.edu 37 11 89531515 89531515 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:89531515C>A uc001pdb.2 - 8 1471 c.1142G>T c.(1141-1143)GGG>GTG p.G381V NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 381 B30.2/SPRY. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CTTAACACACCCAAGAAGAAA 0.438 30 102 --- --- --- --- PASS ARCN1 372 broad.mit.edu 37 11 118451966 118451966 + Silent SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:118451966G>T uc001ptq.2 + 2 170 c.9G>T c.(7-9)CTG>CTT p.L3L ARCN1_uc009zah.2_Silent_p.L3L|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Silent_p.L44L NM_001655 NP_001646 P48444 COPD_HUMAN archain isoform 1 3 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GGCAGGTGCTGTTGGCAGCAG 0.413 40 68 --- --- --- --- PASS FOXRED1 55572 broad.mit.edu 37 11 126145236 126145236 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr11:126145236G>T uc001qdi.2 + 6 693 c.646G>T c.(646-648)GGT>TGT p.G216C FOXRED1_uc010sbn.1_Missense_Mutation_p.G46C|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.G29C|FOXRED1_uc010sbq.1_Missense_Mutation_p.G83C|FOXRED1_uc001qdj.2_Missense_Mutation_p.G5C|FOXRED1_uc010sbr.1_Missense_Mutation_p.G202C|FOXRED1_uc001qdk.2_Missense_Mutation_p.G5C NM_017547 NP_060017 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 216 integral to membrane|mitochondrion oxidoreductase activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) GGAGGACGAAGGTTGGTTTGA 0.537 39 143 --- --- --- --- PASS SCNN1A 6337 broad.mit.edu 37 12 6458148 6458148 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:6458148C>T uc001qnx.2 - 11 1810 c.1521G>A c.(1519-1521)TCG>TCA p.S507S SCNN1A_uc001qnv.2_Silent_p.S207S|SCNN1A_uc001qnw.2_Silent_p.S566S|SCNN1A_uc010sfb.1_Silent_p.S530S NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 507 Extracellular (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) TGTTCTGTCGCGATAGCATCT 0.493 403 392 --- --- --- --- PASS EPS8 2059 broad.mit.edu 37 12 15822599 15822599 + Missense_Mutation SNP T A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:15822599T>A uc009zif.2 - 5 459 c.365A>T c.(364-366)AAG>ATG p.K122M EPS8_uc001rdb.2_Missense_Mutation_p.K122M|EPS8_uc009zig.2_Translation_Start_Site NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 122 PH; first part. 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) CACACTTGCCTTTGATTCTAA 0.328 46 73 --- --- --- --- PASS OVCH1 341350 broad.mit.edu 37 12 29649181 29649181 + Missense_Mutation SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:29649181A>G uc001rix.1 - 3 214 c.214T>C c.(214-216)TGT>CGT p.C72R NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 72 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CTTCCTCCACAGAAGTGGTGC 0.458 8 17 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40757299 40757299 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:40757299T>C uc001rmg.3 + 48 7245 c.7124T>C c.(7123-7125)GTG>GCG p.V2375A LRRK2_uc009zjw.2_Missense_Mutation_p.V1213A|LRRK2_uc001rmi.2_Missense_Mutation_p.V1208A NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2375 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GTTGTGGAAGTGTGGGATAAG 0.363 86 12 --- --- --- --- PASS KRT6A 3853 broad.mit.edu 37 12 52884675 52884675 + Silent SNP G A A rs398542 TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:52884675G>A uc001sam.2 - 4 1088 c.879C>T c.(877-879)GAC>GAT p.D293D NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 293 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) AGTTGATCTCGTCTGTGAGAG 0.498 4 127 --- --- --- --- PASS WIF1 11197 broad.mit.edu 37 12 65461474 65461474 + Splice_Site SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:65461474C>T uc001ssk.2 - 5 779 c.634_splice c.e5+1 p.A212_splice NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CCATGTCTTACCTTTCTCACA 0.488 T HMGA2 pleomorphic salivary gland adenoma 60 53 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70986093 70986093 + Silent SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:70986093C>G uc001swb.3 - 5 1125 c.1095G>C c.(1093-1095)CTG>CTC p.L365L PTPRB_uc010sto.1_Silent_p.L365L|PTPRB_uc010stp.1_Silent_p.L365L|PTPRB_uc001swc.3_Silent_p.L583L|PTPRB_uc001swa.3_Silent_p.L583L|PTPRB_uc001swd.3_Silent_p.L582L|PTPRB_uc009zrr.1_Silent_p.L462L|PTPRB_uc001swe.2_Silent_p.L583L NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 365 Fibronectin type-III 4.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCTGAGCAGACAGTTCACCAG 0.448 81 102 --- --- --- --- PASS CCDC38 120935 broad.mit.edu 37 12 96292356 96292356 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:96292356C>T uc001tek.1 - 6 757 c.523G>A c.(523-525)GCT>ACT p.A175T NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 175 Potential. skin(1) 1 ATTTTCAGAGCGTCTACAGAT 0.363 76 9 --- --- --- --- PASS APPL2 55198 broad.mit.edu 37 12 105582189 105582189 + Missense_Mutation SNP A C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:105582189A>C uc001tlf.1 - 17 1714 c.1496T>G c.(1495-1497)TTG>TGG p.L499W APPL2_uc010swt.1_Missense_Mutation_p.L456W|APPL2_uc001tlg.1_Missense_Mutation_p.L253W|APPL2_uc010swu.1_Missense_Mutation_p.L505W|APPL2_uc009zuq.2_Missense_Mutation_p.L456W NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 499 PID. cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 CATTGATCCCAAAAACCGAAC 0.423 63 7 --- --- --- --- PASS RBM19 9904 broad.mit.edu 37 12 114397945 114397945 + Silent SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:114397945G>T uc009zwi.2 - 3 402 c.258C>A c.(256-258)CCC>CCA p.P86P RBM19_uc001tvn.3_Silent_p.P86P|RBM19_uc001tvm.2_Silent_p.P86P NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 86 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) TCCAGGCTCTGGGTTTGGCCG 0.532 48 10 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115112350 115112350 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:115112350G>T uc001tvt.1 - 7 2354 c.1390C>A c.(1390-1392)CCG>ACG p.P464T TBX3_uc001tvu.1_Missense_Mutation_p.P444T NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 464 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) ACCTTGGCCGGCGCTGTGCCC 0.766 5 1 --- --- --- --- PASS IL31 386653 broad.mit.edu 37 12 122658483 122658483 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr12:122658483G>T uc001ubv.2 - 2 100 c.73C>A c.(73-75)CAC>AAC p.H25N LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron NM_001014336 NP_001014358 Q6EBC2 IL31_HUMAN interleukin 31 precursor 25 extracellular space cytokine activity central_nervous_system(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;6.93e-05)|Breast(359;0.0544) OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223) GGCAACGTGTGGGAGGCCAGC 0.532 77 12 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32783211 32783211 + Missense_Mutation SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr13:32783211C>G uc001utx.2 + 32 4736 c.4240C>G c.(4240-4242)CTG>GTG p.L1414V FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1414 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGCCACGTCACTGGTCCTGAA 0.537 54 10 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35692566 35692566 + Missense_Mutation SNP A C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr13:35692566A>C uc001uvb.2 + 17 2404 c.2198A>C c.(2197-2199)CAC>CCC p.H733P NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 733 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATGTCGGAACACCCAGCCTCA 0.333 10 3 --- --- --- --- PASS LCP1 3936 broad.mit.edu 37 13 46725138 46725138 + Missense_Mutation SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr13:46725138C>G uc001vaz.3 - 8 941 c.815G>C c.(814-816)AGG>ACG p.R272T LCP1_uc001vba.3_Missense_Mutation_p.R272T NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 272 CH 2.|Actin-binding 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) ATTAGCCCACCTCAGCAAGAG 0.463 T BCL6 NHL 95 17 --- --- --- --- PASS RB1 5925 broad.mit.edu 37 13 48953748 48953748 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr13:48953748C>T uc001vcb.2 + 14 1517 c.1351C>T c.(1351-1353)CGC>TGC p.R451C NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 451 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACTTGGAGTTCGCTTGTATTA 0.204 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 4 24 --- --- --- --- PASS DIAPH3 81624 broad.mit.edu 37 13 60566228 60566228 + Silent SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr13:60566228G>A uc001vht.2 - 11 1437 c.1218C>T c.(1216-1218)CGC>CGT p.R406R DIAPH3_uc001vhu.2_Silent_p.R143R|DIAPH3_uc001vhv.2_5'Flank|DIAPH3_uc001vhw.1_Silent_p.R395R|DIAPH3_uc010aed.1_Silent_p.R360R|DIAPH3_uc010aee.1_Silent_p.R336R NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 406 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TATCTTCAAGGCGATGGGATA 0.313 51 10 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70514310 70514310 + Silent SNP A C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr13:70514310A>C uc001vip.2 - 4 1670 c.876T>G c.(874-876)CTT>CTG p.L292L KLHL1_uc010thm.1_Silent_p.L231L NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 292 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GTGGAAGCTGAAGAAGGCACG 0.428 13 27 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110818651 110818651 + Splice_Site SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr13:110818651C>G uc001vqw.3 - 45 4072 c.3950_splice c.e45-1 p.G1317_splice COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTTTTGGACCTAAAAGCAGA 0.423 71 12 --- --- --- --- PASS UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr13:115047559C>T uc001vup.2 + 2 308 c.271C>T c.(271-273)CTG>TTG p.L91L UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding skin(1) 1 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731 2 2 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52520919 52520919 + Silent SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr14:52520919C>A uc001wzo.2 - 4 1122 c.888G>T c.(886-888)CTG>CTT p.L296L NID2_uc010tqs.1_Silent_p.L296L|NID2_uc010tqt.1_Silent_p.L296L|NID2_uc001wzp.2_Silent_p.L296L NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 296 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) AGGAACGTCCCAGGGGAACAG 0.522 24 37 --- --- --- --- PASS SERPINA5 5104 broad.mit.edu 37 14 95054021 95054021 + Missense_Mutation SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr14:95054021C>G uc001ydm.2 + 3 532 c.322C>G c.(322-324)CAC>GAC p.H108D SERPINA5_uc010ave.2_Missense_Mutation_p.H108D|SERPINA5_uc001ydn.1_Missense_Mutation_p.H108D NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 108 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GAAGGAGCTGCACAGAGGCTT 0.597 33 40 --- --- --- --- PASS EML1 2009 broad.mit.edu 37 14 100375748 100375748 + Nonsense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr14:100375748G>T uc001ygs.2 + 11 1240 c.1171G>T c.(1171-1173)GGA>TGA p.G391* EML1_uc010avt.1_Nonsense_Mutation_p.G378*|EML1_uc010tww.1_Nonsense_Mutation_p.G379*|EML1_uc001ygq.2_Nonsense_Mutation_p.G410*|EML1_uc001ygr.2_Nonsense_Mutation_p.G410* NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 391 WD 3. cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) AGTTACTTGTGGAAAATCACA 0.393 99 134 --- --- --- --- PASS PPP1R13B 23368 broad.mit.edu 37 14 104202520 104202520 + Silent SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr14:104202520A>G uc001yof.1 - 16 3334 c.3051T>C c.(3049-3051)GGT>GGC p.G1017G PPP1R13B_uc010awv.1_RNA NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 1017 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TGTTCATCACACCCAGCTTTT 0.607 61 125 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105415305 105415305 + Silent SNP C G G rs74090124 by1000genomes TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr14:105415305C>G uc010axc.1 - 7 6603 c.6483G>C c.(6481-6483)CCG>CCC p.P2161P AHNAK2_uc001ypx.2_Silent_p.P2061P NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2161 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCAAACGACGGCATCTTGA 0.592 2 1 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28459024 28459024 + Missense_Mutation SNP A T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr15:28459024A>T uc001zbj.2 - 42 6756 c.6650T>A c.(6649-6651)CTG>CAG p.L2217Q NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2217 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) GCCCAGGCGCAGGCGACCATC 0.582 30 10 --- --- --- --- PASS TJP1 7082 broad.mit.edu 37 15 30000933 30000933 + Missense_Mutation SNP T A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr15:30000933T>A uc001zcr.2 - 25 5155 c.4680A>T c.(4678-4680)AAA>AAT p.K1560N TJP1_uc010azl.2_Missense_Mutation_p.K1548N|TJP1_uc001zcq.2_Missense_Mutation_p.K1484N|TJP1_uc001zcs.2_Missense_Mutation_p.K1480N NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1560 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ACAAGTCAGGTTTATGTGCAG 0.413 178 39 --- --- --- --- PASS GJD2 57369 broad.mit.edu 37 15 35044963 35044963 + Silent SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr15:35044963A>G uc001zis.1 - 2 682 c.682T>C c.(682-684)TTG>CTG p.L228L uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 228 Extracellular (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) CACTCATACAACCCTGGGACA 0.473 34 5 --- --- --- --- PASS MYEF2 50804 broad.mit.edu 37 15 48460929 48460929 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr15:48460929C>A uc001zwi.3 - 2 393 c.269G>T c.(268-270)GGC>GTC p.G90V MYEF2_uc001zwj.3_Missense_Mutation_p.G90V|MYEF2_uc001zwl.2_5'UTR NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 90 transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TTCTCCAGCGCCCGAATTCTT 0.363 48 129 --- --- --- --- PASS DMXL2 23312 broad.mit.edu 37 15 51828999 51828999 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr15:51828999T>C uc002abf.2 - 12 1903 c.1678A>G c.(1678-1680)AAA>GAA p.K560E DMXL2_uc010ufy.1_Missense_Mutation_p.K560E|DMXL2_uc010bfa.2_Missense_Mutation_p.K560E NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 560 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) ATGATATTTTTACTAAGAGAG 0.403 23 58 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54916021 54916021 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr15:54916021G>T uc002ack.2 + 30 6228 c.6228G>T c.(6226-6228)CAG>CAT p.Q2076H UNC13C_uc002acm.2_5'UTR NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 2076 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TAAACTGGCAGACCACAGCAA 0.363 29 22 --- --- --- --- PASS USP3 9960 broad.mit.edu 37 15 63883009 63883009 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr15:63883009G>A uc002amf.2 + 15 1676 c.1547G>A c.(1546-1548)GGA>GAA p.G516E USP3_uc002amg.2_Missense_Mutation_p.G431E|USP3_uc002amh.2_Missense_Mutation_p.G494E|USP3_uc010uij.1_Missense_Mutation_p.G472E|USP3_uc010uik.1_Missense_Mutation_p.G267E|USP3_uc010bgs.2_Missense_Mutation_p.G499E|USP3_uc002ami.2_Missense_Mutation_p.G347E|uc002amj.2_Intron|uc002amk.2_Intron|uc002aml.2_Intron NM_006537 NP_006528 Q9Y6I4 UBP3_HUMAN ubiquitin thiolesterase 3 516 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(80;0.0187) GCCAAAGCTGGATCGGATAAA 0.418 44 145 --- --- --- --- PASS ITGA11 22801 broad.mit.edu 37 15 68605181 68605181 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr15:68605181T>C uc002ari.2 - 24 2990 c.2903A>G c.(2902-2904)TAC>TGC p.Y968C ITGA11_uc010bib.2_Missense_Mutation_p.Y968C NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 968 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CTTGACCTCGTAGTGGCTCAG 0.617 11 33 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84373179 84373179 + Silent SNP C T T rs140402380 TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr15:84373179C>T uc002bjz.3 + 3 332 c.108C>T c.(106-108)CCC>CCT p.P36P ADAMTSL3_uc002bjy.1_Silent_p.P36P|ADAMTSL3_uc010bmt.1_Silent_p.P36P|ADAMTSL3_uc010bmu.1_Silent_p.P36P NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 36 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) ATTTCCTTCCCGAGTTTGCAC 0.468 15 267 --- --- --- --- PASS OR4F6 390648 broad.mit.edu 37 15 102346017 102346017 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr15:102346017C>T uc010utr.1 + 1 95 c.95C>T c.(94-96)TCA>TTA p.S32L NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CTCTTTTTCTCAGTGTTCTAT 0.507 93 251 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2150202 2150202 + Missense_Mutation SNP T G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr16:2150202T>G uc002cos.1 - 28 9886 c.9677A>C c.(9676-9678)AAC>ACC p.N3226T PKD1_uc002cot.1_Missense_Mutation_p.N3226T|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 3226 PLAT.|Cytoplasmic (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CAGGCCCCCGTTGGCCTCCGT 0.657 30 7 --- --- --- --- PASS CORO7 79585 broad.mit.edu 37 16 4407255 4407255 + Nonsense_Mutation SNP G A A rs142694458 TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr16:4407255G>A uc002cwh.3 - 26 2719 c.2599C>T c.(2599-2601)CAA>TAA p.Q867* CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Nonsense_Mutation_p.Q867*|CORO7_uc002cwg.3_Nonsense_Mutation_p.Q647*|CORO7_uc010uxh.1_Nonsense_Mutation_p.Q849*|CORO7_uc010uxi.1_Nonsense_Mutation_p.Q782* NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 867 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 CGGGGGGCTTGGCTCACTGGG 0.552 42 6 --- --- --- --- PASS PDILT 204474 broad.mit.edu 37 16 20373796 20373796 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr16:20373796G>T uc002dhc.1 - 10 1569 c.1346C>A c.(1345-1347)GCA>GAA p.A449E NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 449 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 AATGTCATTTGCTGTGACATC 0.488 57 72 --- --- --- --- PASS HS3ST4 9951 broad.mit.edu 37 16 26147026 26147026 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr16:26147026C>T uc002dof.2 + 2 1220 c.828C>T c.(826-828)TCC>TCT p.S276S NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 276 Lumenal (Potential). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) GCATTCACTCCATGGCCAAGG 0.498 78 97 --- --- --- --- PASS RUNDC2C 440352 broad.mit.edu 37 16 29376097 29376097 + Missense_Mutation SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr16:29376097A>G uc002dsj.1 + 5 836 c.439A>G c.(439-441)ATG>GTG p.M147V uc010vct.1_Intron|RUNDC2C_uc010bys.1_RNA|RUNDC2C_uc010vdo.1_Missense_Mutation_p.M128V NM_001012391 NP_001012391 RecName: Full=RUN domain-containing protein 2A; 0 CTCTGGGGACATGTTTAAAAA 0.478 4 113 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48121987 48121987 + Nonsense_Mutation SNP G T T rs144720520 byFrequency TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr16:48121987G>T uc002efc.1 - 25 3831 c.3485C>A c.(3484-3486)TCG>TAG p.S1162* ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 1162 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CATTCCTAACGATGACTTTCC 0.413 23 23 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61689506 61689506 + Missense_Mutation SNP A T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr16:61689506A>T uc002eog.1 - 11 2026 c.1774T>A c.(1774-1776)TTG>ATG p.L592M NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 592 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTGATTGTCAAGGTGCTAGTG 0.468 56 92 --- --- --- --- PASS CDH11 1009 broad.mit.edu 37 16 65038624 65038624 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr16:65038624C>A uc002eoi.2 - 3 583 c.149G>T c.(148-150)CGC>CTC p.R50L CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.R50L|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Missense_Mutation_p.R50L NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 50 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ACGCTTGGAGCGCTGTAGCAC 0.642 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 34 28 --- --- --- --- PASS AARS 16 broad.mit.edu 37 16 70293019 70293019 + Missense_Mutation SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr16:70293019A>G uc002eyn.1 - 14 1966 c.1856T>C c.(1855-1857)CTT>CCT p.L619P AARS_uc010vlu.1_Missense_Mutation_p.L449P NM_001605 NP_001596 P49588 SYAC_HUMAN alanyl-tRNA synthetase 619 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding pancreas(1) 1 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) AGCTTCCCCAAGCACTGAGCG 0.562 105 169 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81161404 81161404 + Silent SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr16:81161404G>A uc002fgh.1 - 38 6312 c.6312C>T c.(6310-6312)TAC>TAT p.Y2104Y PKD1L2_uc002fgf.1_Translation_Start_Site|PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 2104 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGGGGACCACGTAGCCTCCTC 0.522 25 39 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7574017 7574017 + Missense_Mutation SNP C A A rs121912664 TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr17:7574017C>A uc002gim.2 - 10 1204 c.1010G>T c.(1009-1011)CGC>CTC p.R337L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205L|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 337 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (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.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(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) CATCTCGAAGCGCTCACGCCC 0.453 111 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) 25 8 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10214458 10214458 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr17:10214458C>T uc002gmk.1 - 33 4708 c.4618G>A c.(4618-4620)GAA>AAA p.E1540K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1540 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCTGACTTTTCCTGCTCCACT 0.473 62 10 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10447295 10447295 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr17:10447295C>A uc010coi.2 - 7 700 c.572G>T c.(571-573)CGT>CTT p.R191L uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R191L|MYH2_uc010coj.2_Missense_Mutation_p.R191L NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 191 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTGGATGACACGCTTGGTGTT 0.428 61 19 --- --- --- --- PASS SYNRG 11276 broad.mit.edu 37 17 35921348 35921348 + Missense_Mutation SNP T G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr17:35921348T>G uc002hoa.2 - 13 1695 c.1612A>C c.(1612-1614)AAA>CAA p.K538Q SYNRG_uc010wde.1_Missense_Mutation_p.K460Q|SYNRG_uc010wdf.1_Missense_Mutation_p.K460Q|SYNRG_uc002hoc.2_Missense_Mutation_p.K459Q|SYNRG_uc002hoe.2_Missense_Mutation_p.K460Q|SYNRG_uc002hod.2_Missense_Mutation_p.K460Q|SYNRG_uc010wdg.1_Missense_Mutation_p.K377Q|SYNRG_uc002hob.2_Missense_Mutation_p.K538Q|SYNRG_uc002hof.2_Missense_Mutation_p.K250Q|SYNRG_uc010cvd.1_Missense_Mutation_p.K338Q NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 538 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 GCACTATATTTATCACCAGGA 0.353 52 94 --- --- --- --- PASS KIAA1267 284058 broad.mit.edu 37 17 44110445 44110445 + Splice_Site SNP C G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr17:44110445C>G uc002ikb.2 - 12 2922 c.2837_splice c.e12+1 p.R946_splice KIAA1267_uc002ikc.2_Splice_Site_p.R946_splice|KIAA1267_uc002ikd.2_Splice_Site_p.R946_splice|KIAA1267_uc010dav.2_Splice_Site_p.R945_splice|KIAA1267_uc010wkb.1_Splice_Site_p.R277_splice|KIAA1267_uc010wkc.1_Splice_Site_p.R214_splice NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) TGCCCCATCACCTGCTGCCCC 0.647 6 6 --- --- --- --- PASS PPP1R9B 84687 broad.mit.edu 37 17 48226576 48226576 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr17:48226576G>A uc002iqh.3 - 3 1306 c.1303C>T c.(1303-1305)CCG>TCG p.P435S NM_032595 NP_115984 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 433 Interacts with protein phosphatase 1 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity 0 GACAGCCCCGGGATCTCCACG 0.597 6 17 --- --- --- --- PASS GPRC5C 55890 broad.mit.edu 37 17 72443115 72443115 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr17:72443115C>T uc002jks.2 + 3 1313 c.1274C>T c.(1273-1275)CCG>CTG p.P425L GPRC5C_uc002jkp.2_Missense_Mutation_p.P470L|GPRC5C_uc002jkq.2_3'UTR|GPRC5C_uc002jkr.2_Missense_Mutation_p.P437L|GPRC5C_uc002jkt.2_Missense_Mutation_p.P425L|GPRC5C_uc002jku.2_Missense_Mutation_p.P180L NM_018653 NP_061123 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, 425 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 GCCACACCGCCGAAAGACGGC 0.652 69 100 --- --- --- --- PASS SAP30BP 29115 broad.mit.edu 37 17 73702489 73702489 + Missense_Mutation SNP T G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr17:73702489T>G uc002jpe.2 + 11 869 c.815T>G c.(814-816)CTC>CGC p.L272R SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.L256R NM_013260 NP_037392 Q9UHR5 S30BP_HUMAN transcriptional regulator protein 272 Thr-rich. apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCACCATCCTCACCACCACA 0.557 106 199 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76435203 76435203 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr17:76435203G>T uc010dhp.1 - 18 2996 c.2774C>A c.(2773-2775)GCT>GAT p.A925D DNAH17_uc002jvq.2_Missense_Mutation_p.A210D|DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTTCTCTGCAGCCACGTCCAG 0.562 40 31 --- --- --- --- PASS KIAA0802 23255 broad.mit.edu 37 18 8825138 8825138 + Silent SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr18:8825138T>C uc002knr.2 + 15 3772 c.3630T>C c.(3628-3630)GGT>GGC p.G1210G KIAA0802_uc002knq.2_Silent_p.G1169G|KIAA0802_uc002kns.2_Silent_p.G550G NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1520 0 CGGCAGGTGGTGAGGGTCCCT 0.677 33 12 --- --- --- --- PASS C18orf34 374864 broad.mit.edu 37 18 30672775 30672775 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr18:30672775T>C uc002kxn.2 - 20 2480 c.2338A>G c.(2338-2340)ATA>GTA p.I780V C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc010xbr.1_Missense_Mutation_p.I780V|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I742V|C18orf34_uc002kxp.2_Missense_Mutation_p.I780V NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 780 ovary(1) 1 TTATCATATATATTGAAATAA 0.284 68 12 --- --- --- --- PASS CELF4 56853 broad.mit.edu 37 18 34850747 34850747 + Silent SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr18:34850747G>A uc002lae.2 - 8 1479 c.1083C>T c.(1081-1083)GGC>GGT p.G361G CELF4_uc010dnd.1_Silent_p.G359G|CELF4_uc002lag.2_Silent_p.G351G|CELF4_uc002laf.2_Silent_p.G356G|CELF4_uc002lai.2_Silent_p.G346G|CELF4_uc002lah.1_Silent_p.G86G NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 361 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 AGGGGTGGATGCCATTGGCGA 0.557 59 15 --- --- --- --- PASS CDH20 28316 broad.mit.edu 37 18 59195329 59195329 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr18:59195329G>T uc010dps.1 + 6 1159 c.1147G>T c.(1147-1149)GTG>TTG p.V383L CDH20_uc002lif.2_Missense_Mutation_p.V377L NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 383 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TGTGGAAGACGTGGACGAGCC 0.512 86 24 --- --- --- --- PASS CD226 10666 broad.mit.edu 37 18 67563044 67563044 + Missense_Mutation SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr18:67563044A>G uc010dqo.2 - 3 1067 c.620T>C c.(619-621)ATC>ACC p.I207T CD226_uc002lkm.3_Missense_Mutation_p.I207T NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 207 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) GGGGATGACGATGACGCTCCA 0.512 74 19 --- --- --- --- PASS ABCA7 10347 broad.mit.edu 37 19 1056426 1056426 + Missense_Mutation SNP G T T rs113269196 byFrequency TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:1056426G>T uc002lqw.3 + 33 4745 c.4514G>T c.(4513-4515)CGC>CTC p.R1505L ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1505 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) GGCCCGGCCCGCCACGCCCAC 0.612 12 19 --- --- --- --- PASS VAV1 7409 broad.mit.edu 37 19 6854071 6854071 + Missense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:6854071G>C uc002mfu.1 + 26 2543 c.2446G>C c.(2446-2448)GGA>CGA p.G816R VAV1_uc010xjh.1_Missense_Mutation_p.G784R|VAV1_uc010dva.1_Missense_Mutation_p.G794R|VAV1_uc002mfv.1_Missense_Mutation_p.G761R NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 816 SH3 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 TAACAAGAAGGGACAGCAAGG 0.602 60 46 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9061509 9061509 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:9061509G>T uc002mkp.2 - 3 26141 c.25937C>A c.(25936-25938)CCT>CAT p.P8646H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8648 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATTGACTACAGGTGTGTTTGA 0.438 15 81 --- --- --- --- PASS PDE4A 5141 broad.mit.edu 37 19 10572296 10572296 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:10572296C>T uc002moj.2 + 12 1668 c.1560C>T c.(1558-1560)GAC>GAT p.D520D PDE4A_uc002mok.2_Silent_p.D494D|PDE4A_uc002mol.2_Silent_p.D459D|PDE4A_uc002mom.2_Silent_p.D281D|PDE4A_uc002mon.2_5'UTR|PDE4A_uc002moo.2_Silent_p.D186D NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 520 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) ACAACTGCGACATCTTCCAGA 0.622 26 60 --- --- --- --- PASS ZNF625 90589 broad.mit.edu 37 19 12256966 12256966 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:12256966C>A uc002mth.2 - 4 417 c.67G>T c.(67-69)GAT>TAT p.D23Y ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.D57Y NM_145233 NP_660276 Q96I27 ZN625_HUMAN zinc finger protein 625 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGCATGTCATCTGGAACCTGG 0.433 45 45 --- --- --- --- PASS TNPO2 30000 broad.mit.edu 37 19 12816128 12816128 + Nonsense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:12816128C>A uc002muo.2 - 17 2133 c.1948G>T c.(1948-1950)GAG>TAG p.E650* TNPO2_uc002mup.2_Nonsense_Mutation_p.E742*|TNPO2_uc002muq.2_Nonsense_Mutation_p.E650*|TNPO2_uc002mur.2_Nonsense_Mutation_p.E650* NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 650 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 CCCAGGCCCTCGGCCAGGCCG 0.602 6 7 --- --- --- --- PASS NANOS3 342977 broad.mit.edu 37 19 13988533 13988533 + Silent SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:13988533G>A uc002mxj.3 + 1 584 c.471G>A c.(469-471)GCG>GCA p.A157A NM_001098622 NP_001092092 P60323 NANO3_HUMAN nanos homolog 3 138 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CTGACAAGGCGAAGACACAGG 0.667 3 9 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38942422 38942422 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:38942422G>T uc002oit.2 + 12 1271 c.1141G>T c.(1141-1143)GGC>TGC p.G381C RYR1_uc002oiu.2_Missense_Mutation_p.G381C NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 381 Cytoplasmic.|MIR 5. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCACCAGGAGGGCCACATGGA 0.627 49 108 --- --- --- --- PASS LRFN1 57622 broad.mit.edu 37 19 39805146 39805146 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:39805146C>T uc002okw.2 - 1 831 c.831G>A c.(829-831)ACG>ACA p.T277T NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 277 LRRCT.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGTGTTCGGGCGTGGCGCAGG 0.697 3 7 --- --- --- --- PASS ZNF234 10780 broad.mit.edu 37 19 44661166 44661166 + Missense_Mutation SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:44661166A>G uc002oym.2 + 6 1304 c.997A>G c.(997-999)ATC>GTC p.I333V ZNF234_uc002oyl.3_Missense_Mutation_p.I333V NM_006630 NP_006621 Q14588 ZN234_HUMAN zinc finger protein 234 333 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) AAACCTTCGTATCCATCAAAG 0.428 39 60 --- --- --- --- PASS SYNGR4 23546 broad.mit.edu 37 19 48878904 48878904 + Nonsense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr19:48878904C>A uc002piz.2 + 4 611 c.366C>A c.(364-366)TGC>TGA p.C122* NM_012451 NP_036583 O95473 SNG4_HUMAN synaptogyrin 4 122 MARVEL.|Helical; (Potential). integral to membrane 0 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) TGGGTTTCTGCTTCCTGGCCA 0.592 95 81 --- --- --- --- PASS VPS16 64601 broad.mit.edu 37 20 2843947 2843947 + Missense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr20:2843947G>C uc002whe.2 + 15 1427 c.1379G>C c.(1378-1380)CGG>CCG p.R460P VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.R316P|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.R146P|VPS16_uc002whi.2_5'Flank NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 460 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 CTCGTGTTGCGGAGACTTTAC 0.597 90 100 --- --- --- --- PASS TMX4 56255 broad.mit.edu 37 20 7980436 7980436 + Missense_Mutation SNP T A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr20:7980436T>A uc002wmx.1 - 4 543 c.410A>T c.(409-411)GAG>GTG p.E137V NM_021156 NP_066979 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 137 Thioredoxin. cell redox homeostasis|electron transport chain|transport integral to membrane 0 CCATTTCTTCTCTAAGATATA 0.408 63 35 --- --- --- --- PASS TOX2 84969 broad.mit.edu 37 20 42683148 42683148 + Silent SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr20:42683148G>T uc002xlf.3 + 5 905 c.888G>T c.(886-888)CTG>CTT p.L296L TOX2_uc010ggo.2_Silent_p.L287L|TOX2_uc002xle.3_Silent_p.L245L|TOX2_uc010ggp.2_Silent_p.L245L|TOX2_uc002xlg.2_Silent_p.L245L|TOX2_uc010zwk.1_Silent_p.L165L NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 296 HMG box. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GGGACAGCCTGGGAGAGGAAC 0.562 27 22 --- --- --- --- PASS MMP9 4318 broad.mit.edu 37 20 44640921 44640921 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr20:44640921C>A uc002xqz.2 + 7 1162 c.1143C>A c.(1141-1143)AGC>AGA p.S381R NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 381 Fibronectin type-II 3. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) ACTTTGACAGCGACAAGAAGT 0.662 88 101 --- --- --- --- PASS NTSR1 4923 broad.mit.edu 37 20 61386239 61386239 + Splice_Site SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr20:61386239G>C uc002ydf.2 + 2 1287 c.916_splice c.e2+1 p.R306_splice NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CGCGTCCTACGTACGTAACCT 0.662 9 24 --- --- --- --- PASS BIRC7 79444 broad.mit.edu 37 20 61869312 61869312 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr20:61869312G>A uc002yej.2 + 2 580 c.407G>A c.(406-408)CGC>CAC p.R136H BIRC7_uc010gkc.1_Missense_Mutation_p.R136H|BIRC7_uc002yei.2_Missense_Mutation_p.R136H|hsa-mir-3196|MI0014241_5'Flank NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN livin inhibitor of apoptosis isoform alpha 136 BIR. activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(38;2.72e-09) AGCTGGAAGCGCGGGGACGAC 0.682 33 25 --- --- --- --- PASS CHRNA4 1137 broad.mit.edu 37 20 61981226 61981226 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr20:61981226G>T uc002yes.2 - 5 1715 c.1537C>A c.(1537-1539)CGC>AGC p.R513S CHRNA4_uc002yet.1_Missense_Mutation_p.R337S|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.R442S|CHRNA4_uc002yev.1_Missense_Mutation_p.R337S|CHRNA4_uc010gkf.1_Missense_Mutation_p.R337S NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 513 Cytoplasmic (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TGGGTGTTGCGAGAGGCCAGG 0.687 6 19 --- --- --- --- PASS ARFRP1 10139 broad.mit.edu 37 20 62337709 62337709 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr20:62337709C>A uc002yga.2 - 3 831 c.264G>T c.(262-264)AAG>AAT p.K88N ARFRP1_uc002ygc.2_Missense_Mutation_p.K88N|ARFRP1_uc002ygh.3_Missense_Mutation_p.K88N|ARFRP1_uc011abf.1_Missense_Mutation_p.K88N|ARFRP1_uc011abg.1_Missense_Mutation_p.K88N|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.K88N|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank NM_003224 NP_003215 Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 88 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|skin(1) 2 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) GGAGTCTTACCTTGTCCCACA 0.592 114 204 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10908860 10908860 + Silent SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr21:10908860G>A uc002yip.1 - 23 1853 c.1485C>T c.(1483-1485)TAC>TAT p.Y495Y TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.Y477Y|TPTE_uc002yir.1_Silent_p.Y457Y|TPTE_uc010gkv.1_Silent_p.Y357Y NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 495 C2 tensin-type. 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) GCAACCAGAAGTAAAATGAGC 0.284 9 38 --- --- --- --- PASS LIPI 149998 broad.mit.edu 37 21 15554171 15554171 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr21:15554171G>T uc002yjm.2 - 4 624 c.614C>A c.(613-615)CCT>CAT p.P205H LIPI_uc010gkw.1_Missense_Mutation_p.P138H NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 184 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGGCCCAGCAGGGTCAAGACC 0.398 36 78 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19737474 19737474 + Silent SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr21:19737474G>T uc002ykw.2 - 7 787 c.756C>A c.(754-756)GTC>GTA p.V252V NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 252 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 TCCACTGGCAGACAACACTTG 0.368 135 186 --- --- --- --- PASS MRAP 56246 broad.mit.edu 37 21 33678949 33678949 + Splice_Site SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr21:33678949A>G uc002ypj.2 + 4 294 c.107_splice c.e4-2 p.H36_splice MRAP_uc002ypk.2_Splice_Site_p.H36_splice|MRAP_uc011ado.1_Splice_Site|MRAP_uc002ypl.2_Splice_Site_p.H36_splice|uc002ypm.2_RNA NM_178817 NP_848932 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding 0 CTCCTCCCGCAGATTCCATCG 0.567 83 60 --- --- --- --- PASS SIM2 6493 broad.mit.edu 37 21 38115753 38115753 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr21:38115753C>T uc002yvr.2 + 9 1120 c.1064C>T c.(1063-1065)TCC>TTC p.S355F SIM2_uc002yvq.2_Missense_Mutation_p.S355F NM_005069 NP_005060 Q14190 SIM2_HUMAN single-minded homolog 2 long isoform 355 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 TCCCAGGACTCCTGGAGGACC 0.512 128 23 --- --- --- --- PASS KCNJ15 3772 broad.mit.edu 37 21 39671448 39671448 + Missense_Mutation SNP G A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr21:39671448G>A uc002ywv.2 + 4 567 c.265G>A c.(265-267)GCG>ACG p.A89T KCNJ15_uc002yww.2_Missense_Mutation_p.A89T|KCNJ15_uc002ywx.2_Missense_Mutation_p.A89T NM_002243 NP_002234 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel J15 89 Extracellular (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 6 CTATGCCATCGCGTTTATTCA 0.478 11 138 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47754463 47754463 + Silent SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr21:47754463A>G uc002zji.3 + 3 527 c.420A>G c.(418-420)CCA>CCG p.P140P PCNT_uc002zjj.2_Silent_p.P22P|PCNT_uc010gqk.1_RNA NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 140 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) ACCACCCACCAGAACAGCGTG 0.542 4 65 --- --- --- --- PASS KREMEN1 83999 broad.mit.edu 37 22 29538035 29538035 + Missense_Mutation SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr22:29538035A>G uc011akm.1 + 9 1376 c.1363A>G c.(1363-1365)ATC>GTC p.I455V KREMEN1_uc003ael.2_Missense_Mutation_p.I438V|KREMEN1_uc011akn.1_Missense_Mutation_p.I338V NM_032045 NP_114434 Q96MU8 KREM1_HUMAN kringle-containing transmembrane protein 1 453 Cytoplasmic (Potential). cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding ovary(3)|lung(2) 5 TTCAATTTCCATCTTTAAGAA 0.478 76 145 --- --- --- --- PASS MKL1 57591 broad.mit.edu 37 22 40825653 40825653 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr22:40825653C>T uc003ayv.1 - 4 465 c.258G>A c.(256-258)AAG>AAA p.K86K MKL1_uc003ayw.1_Silent_p.K86K|MKL1_uc010gye.1_Silent_p.K86K|MKL1_uc010gyf.1_Silent_p.K86K NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 86 RPEL 2.|Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GAAGGATGTTCTTCTCCACCA 0.582 T RBM15 acute megakaryocytic leukemia 45 120 --- --- --- --- PASS EP300 2033 broad.mit.edu 37 22 41565527 41565527 + Missense_Mutation SNP T C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr22:41565527T>C uc003azl.3 + 26 4588 c.4193T>C c.(4192-4194)CTC>CCC p.L1398P NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1398 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ATATCTTACCTCGATAGTGTT 0.343 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 138 202 --- --- --- --- PASS SHANK3 85358 broad.mit.edu 37 22 51160645 51160645 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr22:51160645C>A uc003bne.1 + 22 4432 c.4432C>A c.(4432-4434)CGC>AGC p.R1478S SHANK3_uc003bnf.1_Missense_Mutation_p.R925S|SHANK3_uc010hbg.1_Missense_Mutation_p.R660S NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1478 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CGGGCCTGCCCGCCCTCGCTA 0.682 17 27 --- --- --- --- PASS CRLF2 64109 broad.mit.edu 37 X 1325342 1325342 + RNA SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:1325342G>T uc004cpm.1 - 3 c.333C>A Q9HC73 CRLF2_HUMAN Homo sapiens mRNA for IL-XR, complete cds. extracellular region|integral to membrane|plasma membrane receptor activity haematopoietic_and_lymphoid_tissue(7) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AAACCATCCAGCGACTTGCGG 0.488 Mis|T P2RY8|IGH@ B-ALL|Downs associated ALL 78 133 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17745612 17745612 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:17745612C>T uc004cxx.2 + 6 3661 c.3323C>T c.(3322-3324)CCG>CTG p.P1108L NHS_uc011mix.1_Missense_Mutation_p.P1129L|NHS_uc004cxy.2_Missense_Mutation_p.P952L|NHS_uc004cxz.2_Missense_Mutation_p.P931L|NHS_uc004cya.2_Missense_Mutation_p.P831L NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1108 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) AATCCTCCACCGTCCCTTGCA 0.408 123 18 --- --- --- --- PASS CYBB 1536 broad.mit.edu 37 X 37642781 37642781 + Silent SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:37642781G>C uc004ddr.2 + 3 241 c.180G>C c.(178-180)CTG>CTC p.L60L CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Silent_p.L28L|CYBB_uc011mkg.1_5'UTR NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 60 Helical; (Potential).|Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CAGCCTGCCTGAATTTCAACT 0.517 57 12 --- --- --- --- PASS DUSP21 63904 broad.mit.edu 37 X 44703624 44703624 + Silent SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:44703624C>T uc004dgd.2 + 1 376 c.246C>T c.(244-246)TAC>TAT p.Y82Y NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 82 Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity). cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 CGCGTCTCTACGACTTTTTTG 0.542 72 11 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54784798 54784798 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:54784798C>T uc004dtj.2 - 8 1739 c.1709G>A c.(1708-1710)GGA>GAA p.G570E NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 570 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CAGCAGTTCTCCAATGGTGAC 0.587 35 3 --- --- --- --- PASS STARD8 9754 broad.mit.edu 37 X 67938352 67938352 + Missense_Mutation SNP C A A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:67938352C>A uc004dxa.2 + 5 1728 c.1356C>A c.(1354-1356)GAC>GAA p.D452E STARD8_uc004dxb.2_Missense_Mutation_p.D532E|STARD8_uc004dxc.3_Missense_Mutation_p.D452E NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 452 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 GCGAACTTGACAGTAGTGGGA 0.597 43 0 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91873458 91873458 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:91873458G>T uc004efk.1 + 7 4408 c.3563G>T c.(3562-3564)CGA>CTA p.R1188L PCDH11X_uc004efl.1_Missense_Mutation_p.R1178L|PCDH11X_uc004efo.1_Missense_Mutation_p.R1151L|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.R1180L|PCDH11X_uc004efn.1_Missense_Mutation_p.R1170L NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1188 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CACAGCCCACGAGTGACACAG 0.592 116 21 --- --- --- --- PASS TEX13B 56156 broad.mit.edu 37 X 107225170 107225170 + Missense_Mutation SNP A G G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:107225170A>G uc004enn.1 - 2 281 c.188T>C c.(187-189)GTC>GCC p.V63A NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 63 ovary(1) 1 GGCCTCTTTGACCTCGCTGGG 0.597 120 11 --- --- --- --- PASS C1GALT1C1 29071 broad.mit.edu 37 X 119760819 119760819 + Missense_Mutation SNP C T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:119760819C>T uc004esy.2 - 3 550 c.203G>A c.(202-204)CGA>CAA p.R68Q C1GALT1C1_uc004esz.2_Missense_Mutation_p.R68Q NM_152692 NP_689905 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 68 Lumenal (Potential). integral to membrane 0 ACAGTATACTCGAAAGCTCTT 0.423 91 11 --- --- --- --- PASS SLITRK2 84631 broad.mit.edu 37 X 144905786 144905786 + Missense_Mutation SNP G C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:144905786G>C uc004fcd.2 + 5 2833 c.1843G>C c.(1843-1845)GAA>CAA p.E615Q SLITRK2_uc010nsp.2_Missense_Mutation_p.E615Q|SLITRK2_uc010nso.2_Missense_Mutation_p.E615Q|SLITRK2_uc011mwq.1_Missense_Mutation_p.E615Q|SLITRK2_uc011mwr.1_Missense_Mutation_p.E615Q|SLITRK2_uc011mws.1_Missense_Mutation_p.E615Q|SLITRK2_uc004fcg.2_Missense_Mutation_p.E615Q|SLITRK2_uc011mwt.1_Missense_Mutation_p.E615Q NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 615 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) ACTACACACTGAAGTTCCACT 0.433 99 6 --- --- --- --- PASS SPRY3 10251 broad.mit.edu 37 X 155003826 155003826 + Missense_Mutation SNP G T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chrX:155003826G>T uc004fnq.1 + 2 747 c.293G>T c.(292-294)AGG>ATG p.R98M SPRY3_uc010nvl.1_Intron NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 98 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 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) TCTGATCAAAGGCTCTTGGCC 0.557 76 119 --- --- --- --- PASS USP24 23358 broad.mit.edu 37 1 55607343 55607344 + Frame_Shift_Ins INS - T T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr1:55607343_55607344insT uc001cyg.3 - 21 2215_2216 c.2215_2216insA c.(2215-2217)ATGfs p.M739fs NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 899 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 TGCTGTAAGCATTTTTGTTGCT 0.401 15 9 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33626408 33626418 + Splice_Site DEL ACCAGCTGAAC - - TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:33626408_33626418delACCAGCTGAAC uc003cfu.2 - 22 2423 c.2069_splice c.e22-1 p.P690_splice CLASP2_uc003cft.2_Splice_Site|CLASP2_uc010hgb.2_Splice_Site|CLASP2_uc011axt.1_Splice_Site_p.A283_splice NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 ovary(3)|central_nervous_system(1) 4 CAGACCGGCTACCAGCTGAACACCAAACACA 0.422 23 25 --- --- --- --- FOXL2 668 broad.mit.edu 37 3 138665365 138665378 + Frame_Shift_Del DEL ATCGCCATGGCGAT - - TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr3:138665365_138665378delATCGCCATGGCGAT uc003esw.2 - 1 605_618 c.187_200delATCGCCATGGCGAT c.(187-201)ATCGCCATGGCGATCfs p.I63fs uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank NM_023067 NP_075555 P58012 FOXL2_HUMAN forkhead box L2 63_67 Fork-head. convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding ovary(266)|large_intestine(1)|skin(1) 268 GCTCTCGCGGATCGCCATGGCGATGAGCGCCACG 0.659 Mis granulosa-cell tumour of the ovary Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III 18 43 --- --- --- --- GPM6A 2823 broad.mit.edu 37 4 176622884 176622885 + Frame_Shift_Ins INS - C C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 0bbc7ede-5022-4084-925c-d65baaf7abc2 afd79911-90ac-42a9-bfba-578d52679cb0 g.chr4:176622884_176622885insC uc003iuf.2 - 2 875_876 c.71_72insG c.(70-72)GGCfs p.G24fs GPM6A_uc011ckj.1_Frame_Shift_Ins_p.G17fs|GPM6A_uc003iug.2_Frame_Shift_Ins_p.G24fs|GPM6A_uc003iuh.2_Frame_Shift_Ins_p.G13fs NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 24 Helical; (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CATAGGGAATGCCCCCCAGGCA 0.431 44 45 --- --- --- ---