Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter CHD5 26038 broad.mit.edu 37 1 6194301 6194301 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:6194301T>C uc001amb.1 - 20 3131 c.3031A>G c.(3031-3033)AAT>GAT p.N1011D CHD5_uc001alz.1_5'Flank|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1011 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TAGGAGCCATTGGGCAAGACA 0.597 34 111 --- --- --- --- PASS TAS1R1 80835 broad.mit.edu 37 1 6635260 6635260 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:6635260C>T uc001ant.2 + 3 1068 c.1068C>T c.(1066-1068)TCC>TCT p.S356S TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Silent_p.S356S NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 356 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) ACAAGGGCTCCTGGTGCAGCA 0.577 9 37 --- --- --- --- PASS H6PD 9563 broad.mit.edu 37 1 9324427 9324427 + Silent SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:9324427A>T uc001apt.2 + 5 2148 c.1875A>T c.(1873-1875)CCA>CCT p.P625P NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 625 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GCTGCGTCCCACTCTCAGACC 0.672 10 23 --- --- --- --- PASS MASP2 10747 broad.mit.edu 37 1 11087244 11087244 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:11087244A>T uc001aru.2 - 11 1780 c.1759T>A c.(1759-1761)TAT>AAT p.Y587N NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 587 Peptidase S1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) ATGTCGACATACATTAGATTT 0.428 22 142 --- --- --- --- PASS ARHGEF10L 55160 broad.mit.edu 37 1 17953966 17953966 + Nonsense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:17953966A>T uc001ban.2 + 15 1711 c.1552A>T c.(1552-1554)AAG>TAG p.K518* ARHGEF10L_uc009vpe.1_Nonsense_Mutation_p.K479*|ARHGEF10L_uc001bao.2_Nonsense_Mutation_p.K479*|ARHGEF10L_uc001bap.2_Nonsense_Mutation_p.K479*|ARHGEF10L_uc010ocr.1_Nonsense_Mutation_p.K276*|ARHGEF10L_uc001baq.2_Nonsense_Mutation_p.K284*|ARHGEF10L_uc010ocs.1_Nonsense_Mutation_p.K296*|ARHGEF10L_uc001bar.2_Nonsense_Mutation_p.K226*|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 518 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) GCAGCTGACCAAGAGCGTCAG 0.657 5 26 --- --- --- --- PASS KLHDC7A 127707 broad.mit.edu 37 1 18809311 18809311 + Nonsense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:18809311G>A uc001bax.2 + 1 1888 c.1836G>A c.(1834-1836)TGG>TGA p.W612* KLHDC7A_uc009vpg.2_Nonsense_Mutation_p.W394* NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 612 Kelch 4. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGGACCGCTGGGACTTTGCCC 0.697 3 19 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22158245 22158245 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:22158245G>T uc001bfj.2 - 82 11292 c.11252C>A c.(11251-11253)CCA>CAA p.P3751Q HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.P3752Q NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3751 Laminin G-like 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CAGGGCCAGTGGTGTGGGATG 0.657 16 59 --- --- --- --- PASS SLC30A2 7780 broad.mit.edu 37 1 26371674 26371674 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:26371674C>A uc001blh.1 - 2 302 c.85G>T c.(85-87)GGC>TGC p.G29C SLC30A2_uc001blg.1_Missense_Mutation_p.G29C NM_032513 NP_115902 Q9BRI3 ZNT2_HUMAN solute carrier family 30, member 2 isoform 2 29 Cytoplasmic (Potential). positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) GGAATCCAGCCAGCCCCTTCC 0.607 11 40 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34174707 34174707 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:34174707G>A uc001bxn.1 - 22 3467 c.3438C>T c.(3436-3438)TCC>TCT p.S1146S CSMD2_uc001bxm.1_Silent_p.S1186S|CSMD2_uc001bxo.1_Silent_p.S59S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1146 Extracellular (Potential).|CUB 7. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CATCTCCTTCGGAGAGTTCGA 0.423 29 113 --- --- --- --- PASS C1orf212 113444 broad.mit.edu 37 1 35320824 35320824 + Missense_Mutation SNP C A A rs141693729 TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:35320824C>A uc001byb.2 - 2 875 c.458G>T c.(457-459)AGC>ATC p.S153I NM_138428 NP_612437 hypothetical protein LOC113444 0 Myeloproliferative disorder(586;0.0393) CATTCCTGAGCTGACAAGACA 0.473 13 82 --- --- --- --- PASS DLGAP3 58512 broad.mit.edu 37 1 35334343 35334343 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:35334343G>A uc001byc.2 - 7 2348 c.2348C>T c.(2347-2349)CCC>CTC p.P783L NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 783 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) GCCTGAGTCGGGGAGGCTACG 0.577 15 27 --- --- --- --- PASS EPHA10 284656 broad.mit.edu 37 1 38227289 38227289 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:38227289G>T uc009vvi.2 - 3 724 c.638C>A c.(637-639)GCC>GAC p.A213D EPHA10_uc001cbw.3_Missense_Mutation_p.A213D NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 213 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCGCACGGTGGCGCGGCACTG 0.692 7 15 --- --- --- --- PASS CAP1 10487 broad.mit.edu 37 1 40535455 40535455 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:40535455C>A uc001cfa.3 + 9 1131 c.902C>A c.(901-903)TCT>TAT p.S301Y CAP1_uc001cey.3_Missense_Mutation_p.S301Y|CAP1_uc001cez.3_Missense_Mutation_p.S301Y|CAP1_uc009vvz.2_Missense_Mutation_p.S301Y|CAP1_uc010oje.1_Missense_Mutation_p.S218Y NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 301 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAACCATTCTCTGCACCTAAA 0.522 4 116 --- --- --- --- PASS RAD54L 8438 broad.mit.edu 37 1 46738151 46738151 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:46738151A>G uc009vye.2 + 12 1297 c.1183A>G c.(1183-1185)AGG>GGG p.R395G RAD54L_uc001cpl.2_Missense_Mutation_p.R395G|RAD54L_uc001cpm.1_Missense_Mutation_p.R215G NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 395 meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) CCTGATACGGAGGACTTCTGA 0.428 Direct_reversal_of_damage|Homologous_recombination 15 62 --- --- --- --- PASS USP24 23358 broad.mit.edu 37 1 55620440 55620440 + Silent SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:55620440T>A uc001cyg.3 - 12 1122 c.1122A>T c.(1120-1122)TCA>TCT p.S374S NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 486 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 TCACAGTAGATGATTGTCCTG 0.383 8 43 --- --- --- --- PASS C8B 732 broad.mit.edu 37 1 57395200 57395200 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:57395200C>A uc001cyp.2 - 12 1720 c.1653G>T c.(1651-1653)TGG>TGT p.W551C C8B_uc010oon.1_Missense_Mutation_p.W489C|C8B_uc010ooo.1_Missense_Mutation_p.W499C NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 551 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 ACCAATTTGACCAGCAATTCC 0.463 12 53 --- --- --- --- PASS IL23R 149233 broad.mit.edu 37 1 67724262 67724262 + Silent SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:67724262T>C uc001ddo.2 + 11 1426 c.1341T>C c.(1339-1341)CCT>CCC p.P447P IL23R_uc009waz.2_Silent_p.P244P|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Silent_p.P45P|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Silent_p.P29P|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Silent_p.P193P|IL23R_uc010opn.1_Silent_p.P292P|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Silent_p.P244P|IL23R_uc010opt.1_Silent_p.P88P|IL23R_uc010opu.1_Silent_p.P143P|IL23R_uc010opv.1_Silent_p.P205P|IL23R_uc010opw.1_Silent_p.P82P|IL23R_uc010opx.1_Silent_p.P88P|IL23R_uc010opy.1_Silent_p.P214P|IL23R_uc010opz.1_Silent_p.P88P|IL23R_uc010oqa.1_Silent_p.P88P|IL23R_uc010oqb.1_Silent_p.P276P|IL23R_uc010oqc.1_Silent_p.P163P|IL23R_uc010oqd.1_Silent_p.P82P|IL23R_uc010oqe.1_Silent_p.P45P|IL23R_uc010oqf.1_Silent_p.P45P|IL23R_uc010oqg.1_Silent_p.P45P|IL23R_uc010oqh.1_Silent_p.P88P|IL23R_uc001dds.2_Silent_p.P192P|IL23R_uc001ddt.2_Silent_p.P45P NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 447 Cytoplasmic (Potential). inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 AACACAAGCCTACAGACTACA 0.388 19 155 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70502167 70502167 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:70502167G>T uc001dep.2 + 18 2064 c.2034G>T c.(2032-2034)CTG>CTT p.L678L LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 678 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CTCACTGTCTGAATAACAGTG 0.428 25 75 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79404920 79404920 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:79404920A>T uc001diq.3 - 4 505 c.349T>A c.(349-351)TTA>ATA p.L117I NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 117 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ACATTATCTAAATGGCAGTTT 0.244 9 29 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94543316 94543316 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:94543316G>T uc001dqh.2 - 11 1588 c.1484C>A c.(1483-1485)GCC>GAC p.A495D ABCA4_uc010otn.1_Missense_Mutation_p.A495D NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 495 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTCGAAGTTGGCCATGTCGTC 0.532 22 149 --- --- --- --- PASS PTBP2 58155 broad.mit.edu 37 1 97272495 97272495 + Silent SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:97272495T>C uc001drq.2 + 11 1398 c.1152T>C c.(1150-1152)GAT>GAC p.D384D PTBP2_uc001drn.2_Silent_p.D389D|PTBP2_uc001dro.2_Silent_p.D384D|PTBP2_uc010otz.1_Silent_p.D400D|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Silent_p.D332D|PTBP2_uc001drr.2_Silent_p.D389D|PTBP2_uc010oua.1_Silent_p.D392D|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Silent_p.D3D|PTBP2_uc001drt.2_Silent_p.D3D NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 384 RRM 3. nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) AGATGGCTGATGGAAACCAAT 0.353 16 80 --- --- --- --- PASS SLC6A17 388662 broad.mit.edu 37 1 110714798 110714798 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:110714798A>G uc009wfq.2 + 3 864 c.403A>G c.(403-405)ATA>GTA p.I135V NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 135 Cytoplasmic (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GTGGCACTATATATGTCCCCG 0.632 5 10 --- --- --- --- PASS HIPK1 204851 broad.mit.edu 37 1 114483113 114483113 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:114483113G>T uc001eem.2 + 2 269 c.108G>T c.(106-108)CAG>CAT p.Q36H HIPK1_uc001eel.2_Missense_Mutation_p.Q36H|HIPK1_uc001een.2_Missense_Mutation_p.Q36H NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTCAGGACAGAGTAGCAACG 0.507 53 316 --- --- --- --- PASS IGSF3 3321 broad.mit.edu 37 1 117158964 117158964 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:117158964C>G uc001egr.1 - 3 864 c.159G>C c.(157-159)CAG>CAC p.Q53H IGSF3_uc001egq.1_Missense_Mutation_p.Q53H NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 53 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ACTGGAAATTCTGCTCAGAAG 0.572 15 45 --- --- --- --- PASS SEC22B 9554 broad.mit.edu 37 1 145112437 145112437 + Silent SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:145112437C>A uc001eml.1 + 6 551 c.411C>A c.(409-411)TCC>TCA p.S137S NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 137 v-SNARE coiled-coil homology.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 ACCTAGGCTCCATCAACACTG 0.408 5 115 --- --- --- --- PASS ITGA10 8515 broad.mit.edu 37 1 145532483 145532483 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:145532483G>T uc001eoa.2 + 9 1012 c.936G>T c.(934-936)CAG>CAT p.Q312H NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.Q181H|ITGA10_uc009wiw.2_Missense_Mutation_p.Q169H|ITGA10_uc010oyw.1_Missense_Mutation_p.Q257H NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 312 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCCGGCGGCAGCGAGATCCCA 0.478 20 134 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154033493 154033493 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:154033493A>T uc001fdw.2 - 19 2745 c.2673T>A c.(2671-2673)GAT>GAA p.D891E NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.D891E NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 891 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GCAGTTCCACATCTACAGATC 0.333 19 146 --- --- --- --- PASS HCN3 57657 broad.mit.edu 37 1 155255711 155255711 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:155255711G>T uc001fjz.1 + 6 1441 c.1433G>T c.(1432-1434)CGC>CTC p.R478L RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R173L NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 478 Cytoplasmic (Potential).|cAMP. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GTGCTGGCCCGCGGCGCCCGG 0.652 29 124 --- --- --- --- PASS GPATCH4 54865 broad.mit.edu 37 1 156568034 156568034 + Silent SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:156568034T>A uc001fpm.2 - 4 285 c.246A>T c.(244-246)GTA>GTT p.V82V GPATCH4_uc001fpl.2_Silent_p.V77V NM_015590 NP_056405 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 isoform 1 77 intracellular nucleic acid binding ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGTTTCCACTACCAAGTTGG 0.517 40 253 --- --- --- --- PASS CD5L 922 broad.mit.edu 37 1 157804395 157804395 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:157804395C>A uc001frk.3 - 4 663 c.520G>T c.(520-522)GTG>TTG p.V174L NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 174 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CGGCACACCACCTTTGCGGCC 0.607 5 107 --- --- --- --- PASS OR6K2 81448 broad.mit.edu 37 1 158669890 158669890 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:158669890G>T uc001fsu.1 - 1 553 c.553C>A c.(553-555)CGT>AGT p.R185S NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CAGGCCAGACGCAGCACTGGG 0.478 6 99 --- --- --- --- PASS MAEL 84944 broad.mit.edu 37 1 166991004 166991004 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:166991004A>G uc001gdy.1 + 12 1288 c.1217A>G c.(1216-1218)AAT>AGT p.N406S MAEL_uc001gdz.1_Missense_Mutation_p.N375S|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 406 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 TCTTCCAGCAATATCCACAAA 0.423 20 81 --- --- --- --- PASS DCAF6 55827 broad.mit.edu 37 1 168037687 168037687 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:168037687A>G uc001gew.2 + 18 2746 c.2504A>G c.(2503-2505)AAT>AGT p.N835S DCAF6_uc001gev.2_Missense_Mutation_p.N855S|DCAF6_uc001gex.2_Missense_Mutation_p.N926S|DCAF6_uc010plk.1_Missense_Mutation_p.N895S|DCAF6_uc001gey.2_Missense_Mutation_p.N708S|DCAF6_uc001gez.2_Missense_Mutation_p.N138S NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 835 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GCTTCACTTAATCATATCCGA 0.328 3 45 --- --- --- --- PASS METTL13 51603 broad.mit.edu 37 1 171765854 171765854 + Silent SNP G T T rs61733151 byFrequency TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:171765854G>T uc001ghz.2 + 8 2405 c.2058G>T c.(2056-2058)ACG>ACT p.T686T METTL13_uc001gia.2_Silent_p.T600T|METTL13_uc001gib.2_Silent_p.T530T|METTL13_uc010pml.1_Silent_p.T685T|METTL13_uc001gic.1_RNA NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 686 methyltransferase activity|protein binding kidney(1) 1 GGGATGACACGTATGTCTTGT 0.557 32 102 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176563806 176563806 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:176563806C>A uc001gkz.2 + 3 2230 c.1066C>A c.(1066-1068)CAC>AAC p.H356N PAPPA2_uc001gky.1_Missense_Mutation_p.H356N|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 356 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 CTTGATTAGCCACAGTCGCTA 0.582 14 47 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 179983508 179983508 + Silent SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:179983508T>C uc001gnt.2 + 10 2303 c.1920T>C c.(1918-1920)TTT>TTC p.F640F CEP350_uc009wxl.2_Silent_p.F639F|CEP350_uc001gnu.2_Silent_p.F474F NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 640 Potential. centrosome|nucleus|spindle ovary(4) 4 AGGAAGCCTTTACTAAAGTAA 0.423 3 8 --- --- --- --- PASS ZNF648 127665 broad.mit.edu 37 1 182026487 182026487 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:182026487G>C uc001goz.2 - 2 867 c.659C>G c.(658-660)GCT>GGT p.A220G NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GACCGCGGCAGCCAGGCTGGC 0.667 3 26 --- --- --- --- PASS C1orf25 81627 broad.mit.edu 37 1 185094122 185094122 + Silent SNP A C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:185094122A>C uc001grf.3 - 12 1985 c.1713T>G c.(1711-1713)CCT>CCG p.P571P C1orf25_uc010pon.1_Silent_p.P415P NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 571 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 ACTGACTTTGAGGCGTACACT 0.368 10 80 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 185964039 185964039 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:185964039C>A uc001grq.1 + 24 3827 c.3598C>A c.(3598-3600)CCT>ACT p.P1200T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1200 Ig-like C2-type 9. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GACTCCTCTTCCTGTAATCAC 0.468 19 102 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186287912 186287912 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:186287912G>A uc001grv.2 - 47 6914 c.6617C>T c.(6616-6618)TCA>TTA p.S2206L NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 2206 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TCGGCCACCTGACTCTTCTTC 0.388 T NTRK1 papillary thyroid 24 149 --- --- --- --- PASS RGS13 6003 broad.mit.edu 37 1 192617069 192617069 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:192617069G>A uc001gsj.2 + 5 360 c.79G>A c.(79-81)GAA>AAA p.E27K RGS13_uc001gsk.2_Missense_Mutation_p.E27K NM_002927 NP_002918 O14921 RGS13_HUMAN regulator of G-protein signalling 13 27 plasma membrane GTPase activator activity|signal transducer activity 0 TACTTTGGAGGAAGTATTACA 0.328 10 127 --- --- --- --- PASS CD34 947 broad.mit.edu 37 1 208061216 208061216 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:208061216C>A uc001hgw.1 - 8 1283 c.1025G>T c.(1024-1026)GGA>GTA p.G342V CD34_uc001hgv.1_Missense_Mutation_p.G184V|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Missense_Mutation_p.G207V NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 342 Cytoplasmic (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 GGTCCCAGGTCCTGAGCTATA 0.562 5 48 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228468290 228468290 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:228468290C>T uc009xez.1 + 30 8034 c.7990C>T c.(7990-7992)CTG>TTG p.L2664L OBSCN_uc001hsn.2_Silent_p.L2664L|OBSCN_uc001hsp.1_Silent_p.L363L|OBSCN_uc001hsq.1_5'UTR NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2664 Ig-like 26. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GCGCGGCACCCTGGCCCTGCA 0.642 8 58 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237730049 237730049 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:237730049C>A uc001hyl.1 + 28 3517 c.3397C>A c.(3397-3399)CGT>AGT p.R1133S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1133 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. 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) CTCAGATGAACGTGCCTTTGC 0.522 50 194 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247614672 247614672 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:247614672C>G uc010pyx.1 - 1 613 c.613G>C c.(613-615)GTG>CTG p.V205L NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 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;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GCCACCAGCACAGCCAGTATG 0.577 7 26 --- --- --- --- PASS OR2C3 81472 broad.mit.edu 37 1 247695546 247695546 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:247695546G>T uc009xgy.2 - 2 630 c.268C>A c.(268-270)CAG>AAG p.Q90K 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, 90 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) ATGGTTTTCTGTGGTCCCCAG 0.547 18 54 --- --- --- --- PASS OR2W3 343171 broad.mit.edu 37 1 248059679 248059679 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr1:248059679C>A uc001idp.1 + 3 1060 c.791C>A c.(790-792)GCC>GAC p.A264D OR2W3_uc010pzb.1_Missense_Mutation_p.A264D NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CAGCCAGGAGCCAGTTCTTCC 0.532 11 103 --- --- --- --- PASS FAM110C 642273 broad.mit.edu 37 2 46014 46014 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:46014C>G uc010yim.1 - 1 372 c.372G>C c.(370-372)AAG>AAC p.K124N NM_001077710 NP_001071178 Q1W6H9 F110C_HUMAN hypothetical protein LOC642273 124 microtubule|microtubule organizing center|spindle pole 0 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) GGAAGAGCTTCTTCACCAGGC 0.682 9 17 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15307178 15307178 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:15307178C>A uc002rcc.1 - 52 7136 c.7110G>T c.(7108-7110)TGG>TGT p.W2370C NBAS_uc002rcb.1_Missense_Mutation_p.W210C|NBAS_uc010exl.1_Missense_Mutation_p.W1442C|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 2370 ovary(2)|liver(1)|skin(1) 4 GCCCTCACACCCAGTGCTGTG 0.582 23 60 --- --- --- --- PASS ATAD2B 54454 broad.mit.edu 37 2 24098700 24098700 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:24098700T>A uc002rek.3 - 8 1270 c.976A>T c.(976-978)AGG>TGG p.R326W ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Missense_Mutation_p.R340W NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 326 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAACCTTACCTAATATGGCTT 0.333 3 30 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27802601 27802601 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:27802601T>A uc002rkz.3 + 1 3213 c.3162T>A c.(3160-3162)AGT>AGA p.S1054R NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1054 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) ACTCACAGAGTGATTCCCAGA 0.468 49 150 --- --- --- --- PASS NLRC4 58484 broad.mit.edu 37 2 32476479 32476479 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:32476479G>T uc002roi.2 - 4 700 c.454C>A c.(454-456)CTG>ATG p.L152M NLRC4_uc002roj.1_Missense_Mutation_p.L152M|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 152 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTCAGGGTCAGCTGCTCCACG 0.517 13 53 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48809163 48809163 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:48809163C>G uc010yol.1 + 1 1438 c.1391C>G c.(1390-1392)CCG>CGG p.P464R STON1_uc002rwo.3_Missense_Mutation_p.P464R|STON1_uc010fbm.2_Missense_Mutation_p.P464R|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P464R|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.P464R NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 464 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTTGAGTTGCCGAAGCGAGAT 0.368 40 129 --- --- --- --- PASS MRPL19 9801 broad.mit.edu 37 2 75874342 75874342 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:75874342G>A uc002snl.2 + 2 243 c.218G>A c.(217-219)CGC>CAC p.R73H MRPL19_uc002snm.1_Missense_Mutation_p.R73H NM_014763 NP_055578 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 precursor 73 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome 0 GAACCGGAACGCAGGTGAGGC 0.706 4 6 --- --- --- --- PASS THNSL2 55258 broad.mit.edu 37 2 88474167 88474167 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:88474167A>T uc002ssz.3 + 3 386 c.233A>T c.(232-234)GAC>GTC p.D78V THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.D78V|THNSL2_uc002ssx.3_Missense_Mutation_p.D46V|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.D78V|THNSL2_uc010fhe.2_5'UTR NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 78 threonine biosynthetic process threonine synthase activity ovary(1) 1 GATCTGATCGACCGAGCCTTC 0.517 22 90 --- --- --- --- PASS KCNIP3 30818 broad.mit.edu 37 2 96040090 96040090 + Silent SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:96040090A>G uc002sup.2 + 3 343 c.228A>G c.(226-228)CCA>CCG p.P76P KCNIP3_uc002suq.2_Silent_p.P50P NM_013434 NP_038462 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3 isoform 1 76 EF-hand 1; degenerate. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity breast(2)|ovary(1) 3 READ - Rectum adenocarcinoma(193;0.13) GCCACCAGCCAGAGGGGCTGG 0.597 11 55 --- --- --- --- PASS ADRA2B 151 broad.mit.edu 37 2 96781416 96781416 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:96781416G>A uc002svi.2 - 1 473 c.473C>T c.(472-474)CCG>CTG p.P158L NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 158 Extracellular (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GCGCCCGCGCGGCTGGGGGCC 0.637 8 35 --- --- --- --- PASS ANKRD36B 57730 broad.mit.edu 37 2 98177127 98177127 + Splice_Site SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:98177127C>T uc010yvc.1 - 8 1145 c.865_splice c.e8+1 p.V289_splice ANKRD36B_uc010yve.1_Splice_Site|ANKRD36B_uc010fif.2_Splice_Site NM_025190 NP_079466 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B 0 TGCAAAATTACCTGTCCCAGA 0.294 14 105 --- --- --- --- PASS INPP4A 3631 broad.mit.edu 37 2 99180045 99180045 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:99180045C>A uc002syy.2 + 19 2381 c.1988C>A c.(1987-1989)ACC>AAC p.T663N INPP4A_uc010yvj.1_Missense_Mutation_p.T624N|INPP4A_uc010yvk.1_Missense_Mutation_p.T624N|INPP4A_uc002syx.2_Missense_Mutation_p.T658N|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 663 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 AGCGCGCCCACCATAGCCACC 0.632 11 48 --- --- --- --- PASS IL18RAP 8807 broad.mit.edu 37 2 103040368 103040368 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:103040368C>A uc002tbx.2 + 4 652 c.168C>A c.(166-168)TTC>TTA p.F56L IL18RAP_uc010fiz.2_Intron NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 56 Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 AATCACATTTCTGCCACAGAA 0.428 11 50 --- --- --- --- PASS SLC5A7 60482 broad.mit.edu 37 2 108609583 108609583 + Nonsense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:108609583G>T uc002tdv.2 + 4 724 c.448G>T c.(448-450)GGA>TGA p.G150* SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Nonsense_Mutation_p.G150*|SLC5A7_uc010ywn.1_Nonsense_Mutation_p.G37* NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 150 Cytoplasmic (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) CTCTGCTTTGGGTAAGGACCA 0.443 13 45 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131521817 131521817 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:131521817C>A uc002trw.2 + 2 2362 c.2172C>A c.(2170-2172)AGC>AGA p.S724R FAM123C_uc010fmv.2_Missense_Mutation_p.S724R|FAM123C_uc010fms.1_Missense_Mutation_p.S724R|FAM123C_uc010fmt.1_Missense_Mutation_p.S724R|FAM123C_uc010fmu.1_Missense_Mutation_p.S724R NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 724 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) AGTCCAGCAGCTCCCCCAGCA 0.647 3 29 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141283417 141283417 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:141283417G>C uc002tvj.1 - 49 8994 c.8022C>G c.(8020-8022)TGC>TGG p.C2674W NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2674 Extracellular (Potential).|LDL-receptor class A 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATTACCTGGGCACTTTAATT 0.368 TSP Lung(27;0.18) 9 43 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141747209 141747209 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:141747209C>G uc002tvj.1 - 17 3634 c.2662G>C c.(2662-2664)GAT>CAT p.D888H LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 888 Extracellular (Potential).|LDL-receptor class A 4. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AACTGATCATCAGGACAGCTA 0.378 TSP Lung(27;0.18) 14 85 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141806619 141806619 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:141806619G>A uc002tvj.1 - 11 2697 c.1725C>T c.(1723-1725)ACC>ACT p.T575T LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 575 Extracellular (Potential).|LDL-receptor class B 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGAAACTGGTGGTGTCAGCAA 0.428 TSP Lung(27;0.18) 34 136 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166848466 166848466 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:166848466G>A uc010zcz.1 - 26 5304 c.5286C>T c.(5284-5286)TCC>TCT p.S1762S NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1773 IV.|Helical; Name=S6 of repeat IV; (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) CAACCAGGAAGGATATGATGA 0.443 38 160 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168102055 168102055 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:168102055A>T uc002udx.2 + 8 4171 c.4153A>T c.(4153-4155)AGT>TGT p.S1385C XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1210C|XIRP2_uc010fpq.2_Missense_Mutation_p.S1163C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1210 Xin 24. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GGGAGATGTTAGTTCTGTCAG 0.353 17 73 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170127585 170127585 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:170127585C>G uc002ues.2 - 16 2362 c.2149G>C c.(2149-2151)GTT>CTT p.V717L LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 717 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CGAATAGCAACTTGGGATGAA 0.448 5 41 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179398873 179398873 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:179398873A>T uc010zfg.1 - 307 94989 c.94765T>A c.(94765-94767)TGC>AGC p.C31589S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C25284S|TTN_uc010zfi.1_Missense_Mutation_p.C25217S|TTN_uc010zfj.1_Missense_Mutation_p.C25092S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32516 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) TCAATTTTGCATACATATTTG 0.423 25 142 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179577633 179577633 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:179577633C>G uc010zfg.1 - 91 23611 c.23387G>C c.(23386-23388)AGT>ACT p.S7796T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4457T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8723 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) TTTTACGATACTTGTGAAAGT 0.408 11 28 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179592014 179592014 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:179592014C>A uc010zfg.1 - 66 16570 c.16346G>T c.(16345-16347)GGA>GTA p.G5449V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2110V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6376 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) TTCTGGGGATCCAGCTATCTT 0.418 13 72 --- --- --- --- PASS CERKL 375298 broad.mit.edu 37 2 182423343 182423343 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:182423343C>T uc002unx.2 - 6 949 c.848G>A c.(847-849)CGA>CAA p.R283Q CERKL_uc002uny.2_Missense_Mutation_p.R257Q|CERKL_uc010zfm.1_Missense_Mutation_p.R239Q|CERKL_uc002unz.2_Missense_Mutation_p.R5Q|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Missense_Mutation_p.R5Q|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.R52Q|CERKL_uc002uoe.2_Missense_Mutation_p.R257Q NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 283 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) AGTCAGGATTCGGTCTGTTTC 0.488 24 86 --- --- --- --- PASS SSFA2 6744 broad.mit.edu 37 2 182780211 182780211 + Missense_Mutation SNP G A A rs141978094 TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:182780211G>A uc002uoi.2 + 11 2166 c.1844G>A c.(1843-1845)GGG>GAG p.G615E SSFA2_uc002uoh.2_Missense_Mutation_p.G615E|SSFA2_uc002uoj.2_Missense_Mutation_p.G615E|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.G462E|SSFA2_uc002uol.2_Missense_Mutation_p.G462E|SSFA2_uc002uom.2_Missense_Mutation_p.G83E NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 615 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TGTAGTCCAGGGGATCATATC 0.448 9 39 --- --- --- --- PASS SSFA2 6744 broad.mit.edu 37 2 182780729 182780729 + Missense_Mutation SNP A C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:182780729A>C uc002uoi.2 + 11 2684 c.2362A>C c.(2362-2364)ATG>CTG p.M788L SSFA2_uc002uoh.2_Missense_Mutation_p.M788L|SSFA2_uc002uoj.2_Missense_Mutation_p.M788L|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.M635L|SSFA2_uc002uol.2_Missense_Mutation_p.M635L|SSFA2_uc002uom.2_Missense_Mutation_p.M256L NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 788 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) AAAGCGGGTGATGGAACATGA 0.483 9 63 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189868835 189868835 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:189868835G>A uc002uqj.1 + 39 2906 c.2789G>A c.(2788-2790)GGA>GAA p.G930E NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 930 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) GGCCAACCAGGAGAGAAGGGA 0.502 16 51 --- --- --- --- PASS PMS1 5378 broad.mit.edu 37 2 190728639 190728639 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:190728639C>T uc002urh.3 + 10 2556 c.2027C>T c.(2026-2028)CCA>CTA p.P676L PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.P615L|PMS1_uc002urk.3_Missense_Mutation_p.P637L|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.P500L|PMS1_uc010zgd.1_Missense_Mutation_p.P500L|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.P637L|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.P344L NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 676 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding p.P676R(1) ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TCTAATCAACCAAAACTTGAT 0.333 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 19 89 --- --- --- --- PASS BARD1 580 broad.mit.edu 37 2 215645566 215645566 + Missense_Mutation SNP A C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:215645566A>C uc002veu.2 - 4 1167 c.1032T>G c.(1030-1032)AGT>AGG p.S344R BARD1_uc010zjm.1_Missense_Mutation_p.S200R NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 344 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CAAAATCTCCACTGGTGCTCA 0.413 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 22 77 --- --- --- --- PASS STK36 27148 broad.mit.edu 37 2 219558038 219558038 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:219558038C>T uc002viu.2 + 17 2385 c.2119C>T c.(2119-2121)CAT>TAT p.H707Y STK36_uc002viv.2_Missense_Mutation_p.H707Y|STK36_uc002viw.2_5'Flank NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 707 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TGGCCTGCAGCATCCCATCCT 0.448 18 52 --- --- --- --- PASS CHPF 79586 broad.mit.edu 37 2 220404186 220404186 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:220404186G>A uc002vmc.3 - 4 2474 c.2247C>T c.(2245-2247)CTC>CTT p.L749L CHPF_uc010zlh.1_Silent_p.L587L NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 749 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GCACGCTCTGGAGGCAGCGGT 0.682 7 36 --- --- --- --- PASS ALPPL2 251 broad.mit.edu 37 2 233272586 233272586 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:233272586G>A uc002vss.3 + 5 560 c.507G>A c.(505-507)CGG>CGA p.R169R NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 169 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) CCACCACACGGGTGCAGCATG 0.662 20 68 --- --- --- --- PASS ATG16L1 55054 broad.mit.edu 37 2 234198998 234198998 + Silent SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:234198998C>A uc002vty.2 + 14 1686 c.1429C>A c.(1429-1431)CGA>AGA p.R477R ATG16L1_uc002vtx.1_Silent_p.R314R|ATG16L1_uc002vua.2_Silent_p.R458R|ATG16L1_uc002vub.2_Silent_p.R335R|ATG16L1_uc002vtz.2_Silent_p.R298R|ATG16L1_uc002vud.3_Silent_p.R393R NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 477 WD 4. autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) CTGGGACATTCGGTATGATAC 0.428 4 87 --- --- --- --- PASS UGT1A8 54576 broad.mit.edu 37 2 234526456 234526456 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:234526456G>A uc002vup.2 + 1 166 c.103G>A c.(103-105)GGG>AGG p.G35R UGT1A8_uc010zmv.1_Missense_Mutation_p.G35R NM_019076 NP_061949 Q9HAW9 UD18_HUMAN UDP glycosyltransferase 1 family, polypeptide A8 35 drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding ovary(2) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) GCCCATGGATGGGAGTCACTG 0.572 16 100 --- --- --- --- PASS UGT1A5 54579 broad.mit.edu 37 2 234675779 234675779 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr2:234675779A>G uc002vuw.2 + 2 967 c.967A>G c.(967-969)ATT>GTT p.I323V UGT1A8_uc010zmv.1_Missense_Mutation_p.I319V|UGT1A8_uc002vup.2_Missense_Mutation_p.I319V|UGT1A10_uc002vuq.3_Missense_Mutation_p.I319V|UGT1A10_uc002vur.2_Missense_Mutation_p.I319V|UGT1A9_uc010zmw.1_Missense_Mutation_p.I319V|UGT1A9_uc002vus.2_Missense_Mutation_p.I319V|UGT1A7_uc010zmx.1_Missense_Mutation_p.I319V|UGT1A7_uc002vut.2_Missense_Mutation_p.I319V|UGT1A6_uc002vuu.2_Missense_Mutation_p.I54V|UGT1A6_uc010zmy.1_Missense_Mutation_p.I321V|UGT1A6_uc002vuv.3_Missense_Mutation_p.I321V|UGT1A5_uc010zmz.1_Missense_Mutation_p.I323V|UGT1A4_uc010zna.1_Missense_Mutation_p.I323V|UGT1A4_uc002vux.2_Missense_Mutation_p.I323V|UGT1A3_uc010znb.1_Missense_Mutation_p.I323V|UGT1A3_uc002vuy.2_Missense_Mutation_p.I323V|UGT1A9_uc002vva.2_RNA|UGT1A1_uc010znc.1_Missense_Mutation_p.I322V|UGT1A1_uc002vvb.2_Missense_Mutation_p.I322V NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 323 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) AGCTATGGCAATTGCTGATGC 0.418 30 119 --- --- --- --- PASS NUP210 23225 broad.mit.edu 37 3 13381467 13381467 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:13381467C>A uc003bxv.1 - 25 3441 c.3358G>T c.(3358-3360)GCG>TCG p.A1120S NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1120 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CTCACCAGCGCAACGCTCTCA 0.612 72 116 --- --- --- --- PASS KLHL18 23276 broad.mit.edu 37 3 47371567 47371567 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:47371567C>T uc003crd.2 + 4 654 c.528C>T c.(526-528)TTC>TTT p.F176F KLHL18_uc003crc.2_Silent_p.F176F|KLHL18_uc011bav.1_Silent_p.F64F|KLHL18_uc010hjq.1_Silent_p.F27F NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 176 BACK. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) CAGAAGAGTTCCTGGCCCTGC 0.542 19 53 --- --- --- --- PASS FEZF2 55079 broad.mit.edu 37 3 62357265 62357265 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:62357265G>A uc003dlh.2 - 2 1137 c.930C>T c.(928-930)TGC>TGT p.C310C FEZF2_uc003dli.2_Silent_p.C310C NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 310 C2H2-type 2. transcription, DNA-dependent nucleus zinc ion binding lung(1) 1 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) AGCCTTTGCCGCAGACTTTGC 0.617 3 58 --- --- --- --- PASS GCET2 257144 broad.mit.edu 37 3 111844071 111844071 + Splice_Site SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:111844071A>T uc003dys.1 - 5 369 c.219_splice c.e5+1 p.Q73_splice C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_Splice_Site_p.Q7_splice NM_152785 NP_689998 Q8N6F7 GCET2_HUMAN germinal center expressed transcript 2 isoform mitochondrion 0 TGTTCTTATTACCTGGATGGG 0.423 20 75 --- --- --- --- PASS KIAA2018 205717 broad.mit.edu 37 3 113378936 113378936 + Silent SNP T C C rs34032790 TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:113378936T>C uc003eam.2 - 7 2004 c.1593A>G c.(1591-1593)CAA>CAG p.Q531Q KIAA2018_uc003eal.2_Silent_p.Q475Q NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 531 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 TCTGAATCACTTGCATTGCTG 0.448 28 108 --- --- --- --- PASS KIAA1407 57577 broad.mit.edu 37 3 113721326 113721326 + Nonsense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:113721326T>A uc003eax.2 - 12 2185 c.2038A>T c.(2038-2040)AAA>TAA p.K680* KIAA1407_uc011bin.1_RNA NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 680 Potential. ovary(2) 2 TCTTGTTTTTTCTTCTTCTCT 0.323 9 60 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121414584 121414584 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:121414584C>T uc003eei.3 - 13 4897 c.4771G>A c.(4771-4773)GAA>AAA p.E1591K GOLGB1_uc010hrc.2_Missense_Mutation_p.E1596K|GOLGB1_uc003eej.3_Missense_Mutation_p.E1557K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1477K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1555K NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1591 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTCAAAGATTCAATTTCCTTC 0.378 37 156 --- --- --- --- PASS ABTB1 80325 broad.mit.edu 37 3 127396373 127396373 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:127396373C>T uc003ejt.2 + 9 916 c.828C>T c.(826-828)TTC>TTT p.F276F ABTB1_uc003ejr.2_Silent_p.F134F|ABTB1_uc003ejs.2_Silent_p.F251F|ABTB1_uc003eju.2_Silent_p.F134F|ABTB1_uc010hsm.2_Intron NM_172027 NP_742024 Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 276 BTB 2. cytoplasm|nucleolus|plasma membrane translation elongation factor activity 0 ACATCTGCTTCCGAGTGGCTG 0.632 32 111 --- --- --- --- PASS COL29A1 256076 broad.mit.edu 37 3 130202885 130202885 + Nonstop_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:130202885A>T uc010htj.1 + 40 8075 c.7581A>T c.(7579-7581)TGA>TGT p.*2527C COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.E648V NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2527 Nonhelical region. axon guidance|cell adhesion collagen 0 GCAGATGGTGAAGATACAAGG 0.353 10 26 --- --- --- --- PASS PIK3R4 30849 broad.mit.edu 37 3 130452596 130452596 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:130452596C>T uc003enj.2 - 4 1827 c.1246G>A c.(1246-1248)GAT>AAT p.D416N NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 416 HEAT 1. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 GTAATACGATCCAAAAGGATT 0.423 14 72 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 143412060 143412060 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:143412060C>A uc003evn.2 - 5 805 c.623G>T c.(622-624)GGT>GTT p.G208V SLC9A9_uc011bnk.1_Missense_Mutation_p.G82V NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 208 Helical; (Potential). regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CATCAGTGAACCAAAAAATAA 0.338 8 45 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 143412061 143412061 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:143412061C>A uc003evn.2 - 5 804 c.622G>T c.(622-624)GGT>TGT p.G208C SLC9A9_uc011bnk.1_Missense_Mutation_p.G82C NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 208 Helical; (Potential). regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 ATCAGTGAACCAAAAAATAAA 0.338 8 45 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128279 147128279 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:147128279G>T uc003ewe.2 + 1 1099 c.380G>T c.(379-381)GGC>GTC p.G127V NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 127 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TCGGCCGGGGGCTTCGGGGGC 0.701 5 24 --- --- --- --- PASS ECE2 9718 broad.mit.edu 37 3 184001719 184001719 + Missense_Mutation SNP C A A rs151261667 TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr3:184001719C>A uc003fni.3 + 8 1355 c.1317C>A c.(1315-1317)GAC>GAA p.D439E ECE2_uc011brh.1_Missense_Mutation_p.D292E|ECE2_uc003fnl.3_Missense_Mutation_p.D367E|ECE2_uc003fnm.3_Missense_Mutation_p.D321E|ECE2_uc003fnk.3_Missense_Mutation_p.D292E|ECE2_uc011bri.1_Missense_Mutation_p.D354E|ECE2_uc010hxv.2_Missense_Mutation_p.D83E NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 439 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCGGCGCGACGAGGAGAAGA 0.637 6 46 --- --- --- --- PASS GAK 2580 broad.mit.edu 37 4 853458 853458 + Silent SNP G A A rs138681664 by1000genomes TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:853458G>A uc003gbm.3 - 24 3418 c.3219C>T c.(3217-3219)AGC>AGT p.S1073S GAK_uc003gbn.3_Silent_p.S994S|GAK_uc010ibi.2_Silent_p.S254S|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Silent_p.S926S NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 1073 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) ACTTGGTCCAGCTGGCCTGAG 0.607 16 84 --- --- --- --- PASS PTTG2 10744 broad.mit.edu 37 4 37962456 37962456 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:37962456G>A uc011bye.1 + 1 401 c.401G>A c.(400-402)CGC>CAC p.R134H TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron NM_006607 NP_006598 Q9NZH5 PTTG2_HUMAN pituitary tumor-transforming 2 134 chromosome organization|DNA metabolic process cytoplasm|nucleus SH3 domain binding 0 CCTGAAGAGCGCCAGATTGCA 0.488 23 131 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47602230 47602230 + Splice_Site SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:47602230C>G uc003gxm.2 - 21 3039 c.2946_splice c.e21+1 p.M982_splice CORIN_uc011bzf.1_Splice_Site_p.M843_splice|CORIN_uc011bzg.1_Splice_Site_p.M915_splice NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 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 AAGCAACTTACCATGCATGAA 0.398 11 81 --- --- --- --- PASS AASDH 132949 broad.mit.edu 37 4 57204949 57204949 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:57204949C>G uc003hbn.2 - 15 3069 c.2916G>C c.(2914-2916)CAG>CAC p.Q972H AASDH_uc010ihb.2_Missense_Mutation_p.Q487H|AASDH_uc011caa.1_Missense_Mutation_p.V765L|AASDH_uc003hbo.2_Missense_Mutation_p.Q872H|AASDH_uc011cab.1_Missense_Mutation_p.Q487H|AASDH_uc010ihc.2_Missense_Mutation_p.V833L NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 972 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TGGTAGAGAACTGCCAAACCT 0.343 10 40 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71510196 71510196 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:71510196A>T uc011caw.1 + 9 3334 c.3053A>T c.(3052-3054)CAG>CTG p.Q1018L NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 1018 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) ACTCCTGAGCAGCTTGTTATT 0.428 14 73 --- --- --- --- PASS PPEF2 5470 broad.mit.edu 37 4 76793293 76793293 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:76793293A>T uc003hix.2 - 13 1891 c.1534T>A c.(1534-1536)TAC>AAC p.Y512N PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.Y512N NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 512 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ACTTCATAGTAGTTGGAGGCA 0.473 16 38 --- --- --- --- PASS LIN54 132660 broad.mit.edu 37 4 83857199 83857199 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:83857199G>A uc003hnx.3 - 11 2158 c.1780C>T c.(1780-1782)CGT>TGT p.R594C LIN54_uc003hnz.3_Missense_Mutation_p.R373C|LIN54_uc003hny.3_Missense_Mutation_p.R193C|LIN54_uc010ijt.2_Missense_Mutation_p.R505C|LIN54_uc010iju.2_Missense_Mutation_p.R193C|LIN54_uc010ijv.2_Missense_Mutation_p.R373C NM_194282 NP_919258 Q6MZP7 LIN54_HUMAN lin-54 homolog isoform a 594 CXC 2. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Hepatocellular(203;0.114) TTGCTATGACGTCGATCAGAT 0.403 30 123 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96140439 96140439 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:96140439G>T uc003htp.1 - 9 1480 c.1326C>A c.(1324-1326)CTC>CTA p.L442L UNC5C_uc010ilc.1_Silent_p.L461L|UNC5C_uc003htq.2_Silent_p.L461L NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 442 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CAGCTGACGTGAGGTCTGGGG 0.507 47 189 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115749016 115749016 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:115749016G>T uc003ibu.2 - 14 3254 c.2575C>A c.(2575-2577)CCT>ACT p.P859T NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 859 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GATGGCAGAGGCTGTCCCAGT 0.403 16 59 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115997560 115997560 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:115997560C>G uc003ibu.2 - 2 1312 c.633G>C c.(631-633)GAG>GAC p.E211D NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 211 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GAGGGCCTTTCTCAACCTTGG 0.408 7 72 --- --- --- --- PASS PRSS12 8492 broad.mit.edu 37 4 119203396 119203396 + Nonsense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:119203396G>A uc003ica.1 - 13 2370 c.2323C>T c.(2323-2325)CGA>TGA p.R775* NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 775 Peptidase S1. membrane scavenger receptor activity skin(1) 1 GAATAGGCTCGTCCTACTCAG 0.393 17 75 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126239746 126239746 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:126239746G>A uc003ifj.3 + 1 2180 c.2180G>A c.(2179-2181)AGC>AAC p.S727N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 727 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTCAAATATAGCATATCTGCT 0.463 10 49 --- --- --- --- PASS GLRB 2743 broad.mit.edu 37 4 158057978 158057978 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:158057978C>A uc003ipj.2 + 6 752 c.550C>A c.(550-552)CCT>ACT p.P184T NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 184 Extracellular (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TCTTTCATGCCCTTTGGACTT 0.333 16 53 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164393795 164393795 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:164393795T>C uc003iqp.3 - 1 1253 c.1092A>G c.(1090-1092)ATA>ATG p.I364M NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 364 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TAATACACTCTATGAAACGCT 0.373 20 86 --- --- --- --- PASS TRIM60 166655 broad.mit.edu 37 4 165962132 165962132 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:165962132C>A uc003iqy.1 + 3 1078 c.908C>A c.(907-909)ACA>AAA p.T303K TRIM60_uc010iqx.1_Missense_Mutation_p.T303K NM_152620 NP_689833 Q495X7 TRI60_HUMAN ring finger protein 129 303 B30.2/SPRY. intracellular zinc ion binding skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) GATCTCAACACAGCACATCCT 0.363 15 143 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177032734 177032734 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:177032734G>A uc003iuj.2 + 3 231 c.75G>A c.(73-75)ATG>ATA p.M25I WDR17_uc003iuk.2_Missense_Mutation_p.M1I|WDR17_uc003ium.3_Missense_Mutation_p.M1I|WDR17_uc003iul.1_Missense_Mutation_p.M1I NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 25 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) AGGCAAACATGTCCCAGGTAA 0.438 9 81 --- --- --- --- PASS TUBB4Q 56604 broad.mit.edu 37 4 190905411 190905411 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr4:190905411G>T uc011clg.1 - 3 276 c.273C>A c.(271-273)TCC>TCA p.S91S NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 92 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) GCAGCTCACGGGAAATGAAGT 0.652 10 76 --- --- --- --- PASS MARCH11 441061 broad.mit.edu 37 5 16090997 16090997 + Splice_Site SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:16090997C>A uc003jfo.2 - 3 1099 c.886_splice c.e3+1 p.G296_splice MARCH11_uc010itw.1_Intron NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 CATGGTCTTACCTATGCACAC 0.428 18 55 --- --- --- --- PASS AGXT2 64902 broad.mit.edu 37 5 35047982 35047982 + Nonsense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:35047982T>A uc003jjf.2 - 1 95 c.16A>T c.(16-18)AGA>TGA p.R6* AGXT2_uc011com.1_Nonsense_Mutation_p.R6*|AGXT2_uc011con.1_5'UTR NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 6 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) AGCAAATGTCTCCAGATTAGA 0.537 8 48 --- --- --- --- PASS FYB 2533 broad.mit.edu 37 5 39202365 39202365 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:39202365G>T uc003jls.2 - 1 765 c.698C>A c.(697-699)TCC>TAC p.S233Y FYB_uc003jlt.2_Missense_Mutation_p.S233Y|FYB_uc003jlu.2_Missense_Mutation_p.S233Y|FYB_uc011cpl.1_Missense_Mutation_p.S243Y NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 233 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) GCCGCTTTTGGACCTGACTCC 0.502 40 198 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40950040 40950040 + Silent SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:40950040C>G uc003jmh.2 + 9 1131 c.1017C>G c.(1015-1017)TCC>TCG p.S339S C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 339 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) AATGTAAATCCTCAGGTTGGC 0.353 11 31 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41032884 41032884 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:41032884G>T uc003jmj.3 - 24 2891 c.2401C>A c.(2401-2403)CCT>ACT p.P801T HEATR7B2_uc003jmi.3_Missense_Mutation_p.P356T NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 801 HEAT 9. binding ovary(6)|central_nervous_system(2) 8 CACCGAATAGGGCTAGCTAAG 0.398 13 39 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262787 45262787 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:45262787C>A uc003jok.2 - 8 1934 c.1909G>T c.(1909-1911)GCT>TCT p.A637S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 637 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTGATGGGAGCGATTGCCTGC 0.483 8 122 --- --- --- --- PASS RAD17 5884 broad.mit.edu 37 5 68692239 68692239 + Missense_Mutation SNP A T T rs148563193 TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:68692239A>T uc003jwo.2 + 13 1533 c.1471A>T c.(1471-1473)AGG>TGG p.R491W RAD17_uc003jwg.2_Missense_Mutation_p.R480W|RAD17_uc003jwh.2_Missense_Mutation_p.R480W|RAD17_uc003jwi.2_Missense_Mutation_p.R480W|RAD17_uc003jwj.2_Missense_Mutation_p.R480W|RAD17_uc003jwk.2_Missense_Mutation_p.R480W|RAD17_uc003jwl.2_Missense_Mutation_p.R480W|RAD17_uc003jwm.2_Missense_Mutation_p.R315W|RAD17_uc003jwn.2_Missense_Mutation_p.R394W|RAD17_uc003jwp.2_Missense_Mutation_p.R51W NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 491 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) CTCTTTACTCAGGGAATATAG 0.388 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 5 26 --- --- --- --- PASS RASA1 5921 broad.mit.edu 37 5 86672713 86672713 + Nonsense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:86672713G>T uc003kiw.2 + 17 2318 c.2200G>T c.(2200-2202)GAA>TAA p.E734* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.E557*|RASA1_uc011ctv.1_Nonsense_Mutation_p.E567*|RASA1_uc011ctw.1_Nonsense_Mutation_p.E568*|RASA1_uc010jaw.2_Nonsense_Mutation_p.E556* NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 734 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ACTGCAAAAGGAACTTCATGT 0.358 18 48 --- --- --- --- PASS P4HA2 8974 broad.mit.edu 37 5 131530683 131530683 + Silent SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:131530683C>G uc003kwh.2 - 14 2037 c.1473G>C c.(1471-1473)CGG>CGC p.R491R P4HA2_uc003kwg.2_Silent_p.R489R|P4HA2_uc003kwi.2_Silent_p.R489R|P4HA2_uc003kwk.2_Silent_p.R489R|P4HA2_uc003kwl.2_Silent_p.R491R|P4HA2_uc003kwj.2_Silent_p.R489R NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 491 Fe2OG dioxygenase. endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CTTCCCCGCTCCGCAAGAGGT 0.542 19 54 --- --- --- --- PASS PCDHB4 56131 broad.mit.edu 37 5 140502062 140502062 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:140502062T>A uc003lip.1 + 1 482 c.482T>A c.(481-483)GTG>GAG p.V161E NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 161 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATTTGGATGTGGGCAGCAAT 0.423 18 34 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140588483 140588483 + Nonsense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:140588483G>T uc003liz.2 + 1 193 c.4G>T c.(4-6)GAA>TAA p.E2* PCDHB12_uc011dak.1_5'UTR NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 2 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAAGCTATGGAAAACGGAGG 0.488 23 71 --- --- --- --- PASS PCDHGB3 56102 broad.mit.edu 37 5 140752099 140752099 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:140752099T>C uc003ljw.1 + 1 2138 c.2138T>C c.(2137-2139)CTG>CCG p.L713P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.L713P|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 713 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAATCTCCCTGCGCCTGCGA 0.582 11 43 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140802039 140802039 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:140802039G>T uc003lkq.1 + 1 1503 c.1245G>T c.(1243-1245)TTG>TTT p.L415F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.L415F|PCDHGA11_uc003lkp.1_Missense_Mutation_p.L415F NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 415 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGGGAGTTGGTCCAGAGCT 0.428 36 79 --- --- --- --- PASS SGCD 6444 broad.mit.edu 37 5 155771565 155771565 + Missense_Mutation SNP A C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:155771565A>C uc003lwd.3 + 2 543 c.67A>C c.(67-69)AAG>CAG p.K23Q SGCD_uc003lwa.1_Missense_Mutation_p.K24Q|SGCD_uc003lwb.2_Missense_Mutation_p.K24Q|SGCD_uc003lwc.3_Missense_Mutation_p.K24Q NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 23 Cytoplasmic (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACAGGTATACAAGGTGGGGAT 0.502 19 59 --- --- --- --- PASS B4GALT7 11285 broad.mit.edu 37 5 177036618 177036618 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr5:177036618G>T uc003mhy.2 + 6 946 c.906G>T c.(904-906)GTG>GTT p.V302V B4GALT7_uc003mhz.2_Silent_p.V188V NM_007255 NP_009186 Q9UBV7 B4GT7_HUMAN xylosylprotein beta 1,4-galactosyltransferase 7 302 Lumenal (Potential). fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process Golgi cisterna membrane|integral to membrane metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity pancreas(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTGTCTGTGGGCGGGGCCC 0.592 13 36 --- --- --- --- PASS RREB1 6239 broad.mit.edu 37 6 7229882 7229882 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:7229882C>T uc003mxc.2 + 10 1940 c.1550C>T c.(1549-1551)ACG>ATG p.T517M RREB1_uc003mxb.2_Missense_Mutation_p.T517M|RREB1_uc010jnx.2_Missense_Mutation_p.T517M NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 517 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ACACCACGGACGGTGGTGGCC 0.677 36 121 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7583007 7583007 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:7583007C>T uc003mxp.1 + 24 5791 c.5512C>T c.(5512-5514)CGT>TGT p.R1838C DSP_uc003mxq.1_Missense_Mutation_p.R1239C NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1838 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGAGCTGAATCGTGCAAAATC 0.483 29 134 --- --- --- --- PASS DHX16 8449 broad.mit.edu 37 6 30638192 30638192 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:30638192C>A uc003nqz.2 - 4 873 c.661G>T c.(661-663)GCC>TCC p.A221S DHX16_uc011dmo.1_Missense_Mutation_p.A161S NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 221 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 CTCACCATGGCCTTCCGGTCT 0.517 5 21 --- --- --- --- PASS DHX16 8449 broad.mit.edu 37 6 30638193 30638193 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:30638193C>A uc003nqz.2 - 4 872 c.660G>T c.(658-660)AAG>AAT p.K220N DHX16_uc011dmo.1_Missense_Mutation_p.K160N NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 220 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 TCACCATGGCCTTCCGGTCTT 0.517 5 21 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32037618 32037618 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:32037618C>T uc003nzl.2 - 15 5501 c.5299G>A c.(5299-5301)GAT>AAT p.D1767N NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1849 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GTTCCAGTATCATCCATAGCA 0.597 4 26 --- --- --- --- PASS C6orf222 389384 broad.mit.edu 37 6 36294340 36294340 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:36294340C>G uc003oly.2 - 5 1161 c.983G>C c.(982-984)AGC>ACC p.S328T NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 328 skin(2)|ovary(1)|breast(1) 4 GGGCAGAAAGCTGGACTTCTT 0.597 5 130 --- --- --- --- PASS RUNX2 860 broad.mit.edu 37 6 45514572 45514572 + Nonsense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:45514572G>T uc011dvx.1 + 9 1306 c.1096G>T c.(1096-1098)GAA>TAA p.E366* RUNX2_uc011dvy.1_Nonsense_Mutation_p.E344*|RUNX2_uc003oxt.2_Nonsense_Mutation_p.E352* NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 366 Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich. 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 AGGTGCTTCAGAACTGGGCCC 0.393 23 97 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57372301 57372301 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:57372301C>A uc003pdx.2 + 8 794 c.707C>A c.(706-708)TCC>TAC p.S236Y NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 236 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) ACAGCCAGGTCCTTGCCTGCT 0.428 4 89 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57372302 57372302 + Silent SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:57372302C>A uc003pdx.2 + 8 795 c.708C>A c.(706-708)TCC>TCA p.S236S NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 236 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CAGCCAGGTCCTTGCCTGCTG 0.423 4 90 --- --- --- --- PASS KHDRBS2 202559 broad.mit.edu 37 6 62604622 62604622 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:62604622G>A uc003peg.2 - 6 975 c.728C>T c.(727-729)CCT>CTT p.P243L NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 243 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TCGAGGGGTAGGGACACCTCT 0.577 15 56 --- --- --- --- PASS B3GAT2 135152 broad.mit.edu 37 6 71603972 71603972 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:71603972G>C uc003pfv.2 - 2 1251 c.595C>G c.(595-597)CGA>GGA p.R199G B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.R199G NM_080742 NP_542780 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 199 Lumenal (Potential). carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CGGGTGGTTCGCATCTATAAA 0.502 8 48 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90460227 90460227 + Silent SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:90460227T>A uc003pnn.1 - 24 3368 c.3252A>T c.(3250-3252)GGA>GGT p.G1084G NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1084 ATP (Potential). protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTGATGTCTCTCCCTGAATCA 0.418 55 278 --- --- --- --- PASS GJA10 84694 broad.mit.edu 37 6 90604280 90604280 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:90604280C>T uc011eaa.1 + 1 93 c.93C>T c.(91-93)ATC>ATT p.I31I NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 31 Helical; (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TCCTCTTCATCTTCCGAATGC 0.507 28 106 --- --- --- --- PASS KIAA0776 23376 broad.mit.edu 37 6 97001374 97001374 + Nonsense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:97001374G>T uc003por.2 + 19 2428 c.2380G>T c.(2380-2382)GAG>TAG p.E794* KIAA0776_uc010kck.2_RNA NM_015323 NP_056138 O94874 UFL1_HUMAN hypothetical protein LOC23376 794 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity ovary(1) 1 all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0934) TGTGACGGAAGAGTAATGATC 0.378 7 34 --- --- --- --- PASS POU3F2 5454 broad.mit.edu 37 6 99283761 99283761 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:99283761T>A uc003ppe.2 + 1 1182 c.1012T>A c.(1012-1014)TCC>ACC p.S338T NM_005604 NP_005595 P20265 PO3F2_HUMAN POU domain, class 3, transcription factor 2 338 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) GGCGGACTCGTCCTCGGGCAG 0.592 18 96 --- --- --- --- PASS POPDC3 64208 broad.mit.edu 37 6 105609717 105609717 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:105609717T>C uc003prb.2 - 2 470 c.68A>G c.(67-69)CAA>CGA p.Q23R uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 23 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) TTCGGCCTCTTGCTTCCAGGT 0.428 25 71 --- --- --- --- PASS AIM1 202 broad.mit.edu 37 6 106968998 106968998 + Silent SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:106968998C>G uc003prh.2 + 2 3178 c.2691C>G c.(2689-2691)CCC>CCG p.P897P NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 897 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) ATCTTCTGCCCGACAACTCCT 0.463 31 121 --- --- --- --- PASS HS3ST5 222537 broad.mit.edu 37 6 114383955 114383955 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:114383955G>T uc003pwg.3 - 1 87 c.55C>A c.(55-57)CTT>ATT p.L19I uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.L19I NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 19 Helical; Signal-anchor for type II membrane protein; (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) CCAACGGCAAGGCTTCCCAGC 0.532 36 100 --- --- --- --- PASS KIAA1244 57221 broad.mit.edu 37 6 138657493 138657493 + Missense_Mutation SNP T G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:138657493T>G uc003qhu.2 + 34 6404 c.6404T>G c.(6403-6405)TTC>TGC p.F2135C NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 2135 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GACCAGACCTTCACGGCCCTC 0.542 40 147 --- --- --- --- PASS AKAP12 9590 broad.mit.edu 37 6 151672155 151672155 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:151672155G>A uc011eep.1 + 4 2869 c.2629G>A c.(2629-2631)GCC>ACC p.A877T AKAP12_uc003qoe.2_Missense_Mutation_p.A877T|AKAP12_uc003qof.2_Missense_Mutation_p.A779T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.A772T NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 877 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GCAGAAGGCAGCCACTGAGGT 0.562 17 99 --- --- --- --- PASS SYNJ2 8871 broad.mit.edu 37 6 158495649 158495649 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:158495649G>T uc003qqx.1 + 16 2246 c.2171G>T c.(2170-2172)TGT>TTT p.C724F SYNJ2_uc003qqw.1_Missense_Mutation_p.C724F|SYNJ2_uc003qqy.1_Missense_Mutation_p.C437F|SYNJ2_uc003qqz.1_Missense_Mutation_p.C341F|SYNJ2_uc003qra.1_Missense_Mutation_p.C67F NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 724 Catalytic (By similarity). nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GTATTTTGGTGTGGCGATTTC 0.373 20 104 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 161027644 161027644 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:161027644G>C uc003qtl.2 - 18 2770 c.2650C>G c.(2650-2652)CCT>GCT p.P884A NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3392 Kringle 30. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TAACAATAAGGGGCTGCCACA 0.517 43 206 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169650859 169650859 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr6:169650859C>T uc003qwt.2 - 3 269 c.21G>A c.(19-21)CTG>CTA p.L7L NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 7 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) ACAGAGCCAGCAGGACCAGCC 0.577 5 29 --- --- --- --- PASS KIAA0415 9907 broad.mit.edu 37 7 4815354 4815354 + Nonsense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:4815354C>A uc003sne.2 + 1 91 c.8C>A c.(7-9)TCG>TAG p.S3* KIAA0415_uc010ksp.2_RNA NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 3 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) GTGATGTTCTCGGCAGGAGCG 0.697 8 25 --- --- --- --- PASS RNF216 54476 broad.mit.edu 37 7 5780740 5780740 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:5780740T>A uc003soy.1 - 4 927 c.737A>T c.(736-738)CAG>CTG p.Q246L RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.Q303L NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 246 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) ACTTGCTAACTGCTGGTCTTC 0.537 36 78 --- --- --- --- PASS MIOS 54468 broad.mit.edu 37 7 7612493 7612493 + Silent SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:7612493A>T uc003srf.2 + 4 695 c.387A>T c.(385-387)CTA>CTT p.L129L MIOS_uc010ktp.1_Silent_p.L129L NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 129 WD 2. 0 GTAACTGGCTAGCTGCTGGTT 0.388 32 92 --- --- --- --- PASS EVX1 2128 broad.mit.edu 37 7 27283072 27283072 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:27283072C>A uc003szd.1 + 1 909 c.423C>A c.(421-423)AGC>AGA p.S141R EVX1_uc011jzn.1_Intron|EVX1_uc010kuy.1_Intron NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 141 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 ACCAGCACAGCAAAGGTAGCC 0.652 5 27 --- --- --- --- PASS CRHR2 1395 broad.mit.edu 37 7 30695196 30695196 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:30695196C>G uc003tbn.2 - 10 1297 c.1053G>C c.(1051-1053)CAG>CAC p.Q351H CRHR2_uc010kvw.1_Missense_Mutation_p.Q351H|CRHR2_uc010kvx.1_Missense_Mutation_p.Q350H|CRHR2_uc010kvy.1_Missense_Mutation_p.Q187H|CRHR2_uc003tbo.2_Missense_Mutation_p.Q337H|CRHR2_uc003tbp.2_Missense_Mutation_p.Q378H NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 351 Helical; Name=7; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 CAGGCCCCACCTGGAACGACT 0.592 17 73 --- --- --- --- PASS DPY19L1 23333 broad.mit.edu 37 7 34971194 34971194 + Silent SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:34971194T>A uc003tem.3 - 22 2164 c.2019A>T c.(2017-2019)GTA>GTT p.V673V DPY19L1_uc003tel.1_RNA NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 673 integral to membrane 0 GTCATTCTTTTACAACTTCTA 0.393 13 67 --- --- --- --- PASS C7orf63 79846 broad.mit.edu 37 7 89915616 89915616 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:89915616G>T uc010lep.2 + 14 1810 c.1559G>T c.(1558-1560)AGC>ATC p.S520I C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.S195I|C7orf63_uc011khj.1_Missense_Mutation_p.S502I|C7orf63_uc011khk.1_Missense_Mutation_p.S82I NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 520 binding ovary(1) 1 AATATAATAAGCAAGCCTAAT 0.308 13 66 --- --- --- --- PASS DYNC1I1 1780 broad.mit.edu 37 7 95614265 95614265 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:95614265G>T uc003uoc.3 + 8 1047 c.770G>T c.(769-771)GGC>GTC p.G257V DYNC1I1_uc003uod.3_Missense_Mutation_p.G240V|DYNC1I1_uc003uob.2_Missense_Mutation_p.G220V|DYNC1I1_uc003uoe.3_Missense_Mutation_p.G237V|DYNC1I1_uc010lfl.2_Missense_Mutation_p.G246V NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 257 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) GACTACAGCGGCCGAGAGTTA 0.373 23 112 --- --- --- --- PASS LMTK2 22853 broad.mit.edu 37 7 97823030 97823030 + Missense_Mutation SNP A C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:97823030A>C uc003upd.1 + 11 3546 c.3253A>C c.(3253-3255)ACA>CCA p.T1085P NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 1085 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TCACAGAGGCACAGAAGTGAC 0.592 8 20 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100551511 100551511 + RNA SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:100551511A>T uc003uxk.1 + 1 c.762A>T uc003uxl.1_5'UTR Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. CATCCAAAGTACAGAAACCTC 0.463 8 212 --- --- --- --- PASS PMPCB 9512 broad.mit.edu 37 7 102940667 102940667 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:102940667G>A uc003vbl.2 + 4 404 c.370G>A c.(370-372)GAA>AAA p.E124K PMPCB_uc010liu.1_Missense_Mutation_p.E124K|PMPCB_uc003vbk.1_Missense_Mutation_p.E124K|PMPCB_uc003vbm.2_Missense_Mutation_p.E33K|PMPCB_uc010liv.2_Missense_Mutation_p.E30K|PMPCB_uc010liw.2_Missense_Mutation_p.E33K|PMPCB_uc011kll.1_Missense_Mutation_p.E19K|PMPCB_uc011klm.1_5'UTR NM_004279 NP_004270 O75439 MPPB_HUMAN mitochondrial processing peptidase beta subunit 124 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding ovary(4) 4 ACTTGAGATTGAAAATATGGG 0.378 9 115 --- --- --- --- PASS ARF5 381 broad.mit.edu 37 7 127231325 127231325 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:127231325G>T uc003vmb.1 + 6 551 c.515G>T c.(514-516)TGG>TTG p.W172L FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN ADP-ribosylation factor 5 172 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 GGTCTGGACTGGCTGTCCCAC 0.607 7 29 --- --- --- --- PASS ZC3HC1 51530 broad.mit.edu 37 7 129666074 129666074 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:129666074T>A uc003vpi.2 - 6 727 c.700A>T c.(700-702)ACT>TCT p.T234S ZC3HC1_uc003vph.2_Missense_Mutation_p.T121S|ZC3HC1_uc010lma.2_Missense_Mutation_p.T121S NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 234 cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) TTGATTGTAGTTTTTCTCTCA 0.453 16 85 --- --- --- --- PASS AKR1D1 6718 broad.mit.edu 37 7 137792252 137792252 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:137792252C>T uc003vtz.2 + 7 850 c.781C>T c.(781-783)CGT>TGT p.R261C AKR1D1_uc011kqe.1_Missense_Mutation_p.R261C|AKR1D1_uc011kqf.1_Missense_Mutation_p.R220C|AKR1D1_uc010lmy.1_RNA NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 261 R -> C (in CBAS2). androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 AATTGTTTTGCGTTTCAACAT 0.373 24 99 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146829568 146829568 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:146829568C>A uc003weu.1 + 8 1831 c.1315C>A c.(1315-1317)CAG>AAG p.Q439K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 439 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAACATCACACAGACCAAGAT 0.423 HNSCC(39;0.1) 12 57 --- --- --- --- PASS ZNF467 168544 broad.mit.edu 37 7 149462587 149462587 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:149462587G>T uc003wgd.2 - 5 1145 c.1004C>A c.(1003-1005)TCC>TAC p.S335Y ZNF467_uc003wgc.2_Intron NM_207336 NP_997219 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGAGAAGCGGACGAGTCGGG 0.662 6 10 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149486292 149486292 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:149486292G>T uc010lpk.2 + 30 4268 c.4268G>T c.(4267-4269)TGC>TTC p.C1423F NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1423 LDL-receptor class A 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGATGACTTGCAGCTCCGGC 0.662 7 34 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149488961 149488961 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:149488961G>A uc010lpk.2 + 36 5302 c.5302G>A c.(5302-5304)GGC>AGC p.G1768S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1768 TSP type-1 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCGTGCAGGGGCACCATGAC 0.677 3 14 --- --- --- --- PASS GALNTL5 168391 broad.mit.edu 37 7 151704947 151704947 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:151704947G>C uc003wkp.2 + 7 1167 c.944G>C c.(943-945)CGT>CCT p.R315P GALNTL5_uc003wkq.2_Missense_Mutation_p.R66P|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.R204P NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 315 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TTTGCTATACGTCGGCATTAT 0.338 24 116 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154172066 154172066 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:154172066A>G uc003wlk.2 + 3 530 c.401A>G c.(400-402)GAA>GGA p.E134G DPP6_uc003wli.2_Missense_Mutation_p.E70G|DPP6_uc003wlj.2_Missense_Mutation_p.E134G|DPP6_uc010lqh.1_Missense_Mutation_p.E72G|DPP6_uc003wlm.2_Missense_Mutation_p.E72G|DPP6_uc011kvq.1_Missense_Mutation_p.E72G NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 134 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GTCACTGTAGAAGATCTCTTC 0.408 19 76 --- --- --- --- PASS NCAPG2 54892 broad.mit.edu 37 7 158464239 158464239 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr7:158464239C>A uc003wnv.1 - 13 1591 c.1446G>T c.(1444-1446)ATG>ATT p.M482I NCAPG2_uc010lqu.1_Missense_Mutation_p.M274I|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.M482I|NCAPG2_uc011kwe.1_Missense_Mutation_p.M482I NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 482 HEAT. cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TCTTCAACAGCATGTCCACAA 0.438 50 206 --- --- --- --- PASS MYOM2 9172 broad.mit.edu 37 8 2040265 2040265 + Missense_Mutation SNP C A A rs149434055 TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:2040265C>A uc003wpx.3 + 16 2058 c.1920C>A c.(1918-1920)GAC>GAA p.D640E MYOM2_uc011kwi.1_Missense_Mutation_p.D65E NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 640 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATGAGGAGGACCTGCTGGGCT 0.602 9 123 --- --- --- --- PASS KIF13B 23303 broad.mit.edu 37 8 28998134 28998134 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:28998134C>A uc003xhh.3 - 20 2394 c.2335G>T c.(2335-2337)GTA>TTA p.V779L uc003xhi.1_RNA NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 779 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GATCGTATTACCTGTAAAGAG 0.373 16 39 --- --- --- --- PASS KIF13B 23303 broad.mit.edu 37 8 28998135 28998135 + Splice_Site SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:28998135C>A uc003xhh.3 - 20 2394 c.2335_splice c.e20-1 p.V779_splice uc003xhi.1_RNA NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) ATCGTATTACCTGTAAAGAGA 0.373 16 39 --- --- --- --- PASS GPR124 25960 broad.mit.edu 37 8 37697084 37697084 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:37697084T>C uc003xkj.2 + 16 2818 c.2455T>C c.(2455-2457)TCT>CCT p.S819P GPR124_uc010lvy.2_Missense_Mutation_p.S602P NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 819 Helical; Name=2; (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AGCCATGACCTCTGCTGTCTT 0.582 19 119 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77690543 77690543 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:77690543C>A uc003yav.2 + 4 3502 c.3115C>A c.(3115-3117)CAT>AAT p.H1039N ZFHX4_uc003yau.1_Missense_Mutation_p.H1065N|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1039N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1039 C2H2-type 7. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCTGGTACAACATGTCCGTTC 0.532 HNSCC(33;0.089) 39 178 --- --- --- --- PASS LRRCC1 85444 broad.mit.edu 37 8 86044135 86044135 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:86044135A>G uc003ycw.2 + 12 2061 c.1907A>G c.(1906-1908)TAT>TGT p.Y636C LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.Y337C|LRRCC1_uc003ycx.2_Missense_Mutation_p.Y543C|LRRCC1_uc003ycy.2_Missense_Mutation_p.Y616C NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 636 Potential. cell division|mitosis centriole|nucleus 0 AGCCAGCAGTATATGGATTTA 0.348 14 63 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89128749 89128749 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:89128749A>G uc003yeb.3 - 6 1352 c.1070T>C c.(1069-1071)ATG>ACG p.M357T MMP16_uc003yec.2_Missense_Mutation_p.M357T NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 357 Extracellular (Potential).|Hemopexin-like 1. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 GAAAACAAACATCTCACGACG 0.418 10 39 --- --- --- --- PASS SLC26A7 115111 broad.mit.edu 37 8 92378879 92378879 + Nonsense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:92378879T>A uc003yex.2 + 15 1838 c.1560T>A c.(1558-1560)TAT>TAA p.Y520* SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Nonsense_Mutation_p.Y520*|SLC26A7_uc003yfa.2_Nonsense_Mutation_p.Y520* NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 520 STAS.|Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) AAAAATTTTATACTGATTTAA 0.353 34 119 --- --- --- --- PASS FBXO43 286151 broad.mit.edu 37 8 101149792 101149792 + Splice_Site SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:101149792C>A uc003yjd.2 - 3 2387 c.1674_splice c.e3+1 p.E558_splice FBXO43_uc003yje.2_Splice_Site_p.E524_splice|FBXO43_uc010mbp.1_Missense_Mutation_p.V559L NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) ACATACATTACCTCAGAATCT 0.308 10 61 --- --- --- --- PASS LRP12 29967 broad.mit.edu 37 8 105509436 105509436 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:105509436G>A uc003yma.2 - 5 1439 c.1344C>T c.(1342-1344)TGC>TGT p.C448C LRP12_uc003ymb.2_Silent_p.C429C|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 448 Extracellular (Potential).|LDL-receptor class A 4. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GGCAAAAAAAGCAGTTTTTTT 0.418 25 97 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110463361 110463361 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:110463361C>T uc003yne.2 + 41 6437 c.6333C>T c.(6331-6333)GTC>GTT p.V2111V NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2111 IPT/TIG 14.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GACTGACAGTCGTGGGATCAG 0.517 HNSCC(38;0.096) OREG0018931 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 22 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113649184 113649184 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:113649184G>T uc003ynu.2 - 22 3736 c.3577C>A c.(3577-3579)CGA>AGA p.R1193R CSMD3_uc003yns.2_Silent_p.R465R|CSMD3_uc003ynt.2_Silent_p.R1153R|CSMD3_uc011lhx.1_Silent_p.R1089R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1193 Sushi 6.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AACCCGATTCGACTACCATAT 0.453 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 80 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 125072499 125072499 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:125072499A>G uc003yqw.2 + 23 3159 c.2953A>G c.(2953-2955)ATT>GTT p.I985V uc003yqy.1_RNA NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 985 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCCTGCCAACATTCGGCCGGT 0.582 51 96 --- --- --- --- PASS FAM84B 157638 broad.mit.edu 37 8 127569404 127569404 + Silent SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:127569404C>G uc003yrz.1 - 2 515 c.231G>C c.(229-231)CGG>CGC p.R77R NM_174911 NP_777571 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 77 cytoplasm|plasma membrane protein binding 0 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) CCTCGTGCAGCCGCGGATCGT 0.716 3 22 --- --- --- --- PASS ST3GAL1 6482 broad.mit.edu 37 8 134478271 134478271 + Silent SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:134478271C>A uc003yuk.2 - 6 1198 c.369G>T c.(367-369)GTG>GTT p.V123V ST3GAL1_uc003yum.2_Silent_p.V123V NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 123 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) TCCCAGGCACCACTCTGAACA 0.587 31 94 --- --- --- --- PASS FLJ43860 389690 broad.mit.edu 37 8 142476592 142476592 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:142476592G>A uc003ywi.2 - 19 2475 c.2394C>T c.(2392-2394)ACC>ACT p.T798T FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 798 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGGCGTGCAGGGTCTTTTCCT 0.642 13 37 --- --- --- --- PASS GML 2765 broad.mit.edu 37 8 143927970 143927970 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr8:143927970G>T uc003yxg.2 + 4 431 c.341G>T c.(340-342)GGA>GTA p.G114V NM_002066 NP_002057 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule 114 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane central_nervous_system(2) 2 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) AATGCAGGAGGACCTACTAAT 0.453 26 97 --- --- --- --- PASS SMARCA2 6595 broad.mit.edu 37 9 2029188 2029188 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr9:2029188C>T uc003zhc.2 + 2 265 c.166C>T c.(166-168)CCT>TCT p.P56S SMARCA2_uc003zhd.2_Missense_Mutation_p.P56S|SMARCA2_uc010mha.2_Missense_Mutation_p.P47S NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 56 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TGTCTCCCATCCTATGCCGAC 0.537 4 28 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8319963 8319963 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr9:8319963C>T uc003zkk.2 - 44 6249 c.5538G>A c.(5536-5538)GCG>GCA p.A1846A PTPRD_uc003zkp.2_Silent_p.A1440A|PTPRD_uc003zkq.2_Silent_p.A1439A|PTPRD_uc003zkr.2_Silent_p.A1430A|PTPRD_uc003zks.2_Silent_p.A1439A|PTPRD_uc003zkl.2_Silent_p.A1837A|PTPRD_uc003zkm.2_Silent_p.A1833A|PTPRD_uc003zkn.2_Silent_p.A1435A|PTPRD_uc003zko.2_Silent_p.A1436A NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1846 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTCCAACGCCCGCGCTGCCAC 0.443 TSP Lung(15;0.13) 14 36 --- --- --- --- PASS ADAMTSL1 92949 broad.mit.edu 37 9 18906818 18906818 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr9:18906818C>T uc003zne.3 + 28 5217 c.5090C>T c.(5089-5091)GCC>GTC p.A1697V ADAMTSL1_uc003znf.3_Missense_Mutation_p.A398V|ADAMTSL1_uc003zng.1_Missense_Mutation_p.A88V NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1697 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TGTGTGCATGCCCGCACCAAC 0.617 18 61 --- --- --- --- PASS GDA 9615 broad.mit.edu 37 9 74838034 74838034 + Splice_Site SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr9:74838034A>T uc004aiq.2 + 7 790 c.607_splice c.e7-2 p.Y203_splice GDA_uc011lse.1_Splice_Site_p.Y129_splice|GDA_uc011lsf.1_Splice_Site_p.Y129_splice|GDA_uc004air.2_Splice_Site_p.Y203_splice|GDA_uc010mow.1_Splice_Site|GDA_uc004ais.2_Intron|GDA_uc004ait.1_Splice_Site_p.Y129_splice NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) AATTATCTCCAGTATTCTAGA 0.259 39 101 --- --- --- --- PASS CTSL1 1514 broad.mit.edu 37 9 90344506 90344506 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr9:90344506A>T uc004aph.2 + 6 990 c.640A>T c.(640-642)AAT>TAT p.N214Y CTSL1_uc004api.2_Missense_Mutation_p.N214Y|CTSL1_uc004apj.2_Missense_Mutation_p.N159Y|CTSL1_uc010mqh.2_Missense_Mutation_p.N32Y|CTSL1_uc004apk.2_Missense_Mutation_p.N214Y|CTSL1_uc004apl.2_Missense_Mutation_p.N214Y NM_001912 NP_001903 P07711 CATL1_HUMAN cathepsin L1 preproprotein 214 macrophage apoptosis|proteolysis extracellular region|lysosome|nucleus cysteine-type endopeptidase activity|histone binding ovary(3) 3 Glucagon recombinant(DB00040) CTGTAAGTACAATCCCAAGTA 0.458 33 67 --- --- --- --- PASS HEMGN 55363 broad.mit.edu 37 9 100692661 100692661 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr9:100692661G>T uc004axy.2 - 3 1124 c.1016C>A c.(1015-1017)TCT>TAT p.S339Y HEMGN_uc004axz.2_Missense_Mutation_p.S339Y NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 339 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) TGTTTTATGAGAGGGGGCTTT 0.363 60 162 --- --- --- --- PASS GABBR2 9568 broad.mit.edu 37 9 101125063 101125063 + Silent SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr9:101125063C>G uc004ays.2 - 13 1983 c.1827G>C c.(1825-1827)CTG>CTC p.L609L NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 609 Helical; Name=4; (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) TCAGGATACACAGGTCGATCA 0.592 10 32 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120470891 120470891 + Silent SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr9:120470891C>A uc004bjz.2 + 2 435 c.144C>A c.(142-144)ATC>ATA p.I48I TLR4_uc004bka.2_Silent_p.I8I|TLR4_uc004bkb.2_Intron NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 48 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TCTACAAAATCCCCGACAACC 0.443 33 101 --- --- --- --- PASS LCN6 158062 broad.mit.edu 37 9 139642928 139642928 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr9:139642928C>T uc004ciy.2 - 1 53 c.8G>A c.(7-9)GGC>GAC p.G3D LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA NM_198946 NP_945184 P62502 LCN6_HUMAN lipocalin 6 precursor 3 single fertilization extracellular region binding 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) CAGCAGCAGGCCGCCCATCCT 0.637 9 15 --- --- --- --- PASS KIAA1984 84960 broad.mit.edu 37 9 139693672 139693672 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr9:139693672G>C uc004cjf.2 + 2 237 c.189G>C c.(187-189)AAG>AAC p.K63N NM_001039374 NP_001034463 Q5T5S1 K1984_HUMAN hypothetical protein LOC84960 63 ovary(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) CTTTGGCCAAGAAGGTACACA 0.652 21 30 --- --- --- --- PASS GTPBP4 23560 broad.mit.edu 37 10 1041879 1041879 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr10:1041879C>T uc001ift.2 + 3 301 c.230C>T c.(229-231)CCG>CTG p.P77L GTPBP4_uc010qac.1_Intron|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Intron|GTPBP4_uc010qae.1_Missense_Mutation_p.P30L NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 77 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GATATTCATCCGTTCTATGCT 0.313 12 35 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37430821 37430821 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr10:37430821G>A uc001iza.1 + 7 927 c.828G>A c.(826-828)GTG>GTA p.V276V NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 332 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CATCCTTGGTGGAGGGAACAT 0.468 23 52 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr10:37431050G>C uc001iza.1 + 7 1156 c.1057G>C c.(1057-1059)GCA>CCA p.A353P NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATTTACGTGGGCAGCAAAAGG 0.408 3 137 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50870818 50870818 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr10:50870818C>A uc001jhz.2 + 14 2120 c.1967C>A c.(1966-1968)TCC>TAC p.S656Y CHAT_uc001jhv.1_Missense_Mutation_p.S538Y|CHAT_uc001jhx.1_Missense_Mutation_p.S538Y|CHAT_uc001jhy.1_Missense_Mutation_p.S538Y|CHAT_uc001jia.2_Missense_Mutation_p.S538Y|CHAT_uc010qgs.1_Missense_Mutation_p.S538Y NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 656 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TTTGTCCTCTCCACTAGCCAG 0.478 41 79 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87373316 87373316 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr10:87373316C>A uc001kdl.1 - 15 2550 c.2449G>T c.(2449-2451)GCC>TCC p.A817S GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.A388S NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 817 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TGGGCGCTGGCATGGCTGGTG 0.642 Multiple Myeloma(13;0.14) 29 72 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89717716 89717716 + Missense_Mutation SNP A C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr10:89717716A>C uc001kfb.2 + 8 1772 c.741A>C c.(739-741)TTA>TTC p.L247F NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 247 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.P248fs*5(11)|p.R55fs*1(4)|p.L247*(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.L247fs*4(1)|p.?(1)|p.L247fs*5(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.P246_L247insGP(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CTCAGCCGTTACCTGTGTGTG 0.403 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 5 49 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89717718 89717718 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr10:89717718C>A uc001kfb.2 + 8 1774 c.743C>A c.(742-744)CCT>CAT p.P248H NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 248 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.P248fs*5(13)|p.P248?(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.L247fs*4(1)|p.G165_K342del(1)|p.P248fs*4(1)|p.V249fs*4(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAGCCGTTACCTGTGTGTGGT 0.408 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 6 51 --- --- --- --- PASS CNNM1 26507 broad.mit.edu 37 10 101089820 101089820 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr10:101089820G>T uc001kpp.3 + 1 965 c.676G>T c.(676-678)GCG>TCG p.A226S CNNM1_uc009xwe.2_Missense_Mutation_p.A226S|CNNM1_uc010qpi.1_Missense_Mutation_p.A226S|CNNM1_uc009xwf.2_Missense_Mutation_p.A226S NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 226 DUF21.|Helical; (Potential). ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GTGGCTGCGGGCGCTCGGGGC 0.746 4 0 --- --- --- --- PASS SEC23IP 11196 broad.mit.edu 37 10 121691695 121691695 + Missense_Mutation SNP A C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr10:121691695A>C uc001leu.1 + 16 2695 c.2623A>C c.(2623-2625)ATT>CTT p.I875L SEC23IP_uc010qtc.1_Missense_Mutation_p.I664L|SEC23IP_uc009xzk.1_RNA NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 875 DDHD. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GCAGGGTTTTATTAGCTCTCT 0.403 39 55 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1261412 1261412 + Nonsense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:1261412C>A uc009ycr.1 + 46 5982 c.5856C>A c.(5854-5856)TGC>TGA p.C1952* MUC5B_uc001ltb.2_Nonsense_Mutation_p.C1262*|MUC5B_uc001lta.2_Nonsense_Mutation_p.C927* NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1259 Cys-rich. 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) CCCCAGCCTGCACCTGCACCT 0.647 3 21 --- --- --- --- PASS OSBPL5 114879 broad.mit.edu 37 11 3125526 3125526 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:3125526C>A uc001lxk.2 - 10 1299 c.1141G>T c.(1141-1143)GGC>TGC p.G381C OSBPL5_uc010qxq.1_Missense_Mutation_p.G292C|OSBPL5_uc009ydw.2_Missense_Mutation_p.G313C|OSBPL5_uc001lxl.2_Missense_Mutation_p.G313C|OSBPL5_uc009ydx.2_Missense_Mutation_p.G405C NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 381 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AGGTCCATGCCTGGCCGTAGC 0.612 8 47 --- --- --- --- PASS OR51L1 119682 broad.mit.edu 37 11 5020628 5020628 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:5020628C>G uc010qyu.1 + 1 416 c.416C>G c.(415-417)ACC>AGC p.T139S NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCATCCTCACCAACAGTGTA 0.488 39 166 --- --- --- --- PASS TRIM6-TRIM34 445372 broad.mit.edu 37 11 5663637 5663637 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:5663637A>G uc001mbf.2 + 12 2081 c.1837A>G c.(1837-1839)AGT>GGT p.S613G HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.S259G|TRIM34_uc009yeq.2_Missense_Mutation_p.S14G|TRIM34_uc001mbi.2_Missense_Mutation_p.S259G|TRIM78P_uc009yer.2_5'Flank NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 613 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CATCCCTAGGAGTGAGATCTG 0.443 10 71 --- --- --- --- PASS OR52E8 390079 broad.mit.edu 37 11 5878630 5878630 + Silent SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:5878630T>A uc010qzr.1 - 1 303 c.303A>T c.(301-303)GGA>GGT p.G101G TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 101 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGGCAGCCTCCAAAAGATA 0.468 37 187 --- --- --- --- PASS OR52B2 255725 broad.mit.edu 37 11 6191058 6191058 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:6191058G>T uc010qzy.1 - 1 499 c.499C>A c.(499-501)CGG>AGG p.R167R NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGGGCAGCCGCTTCAGCAAG 0.488 8 43 --- --- --- --- PASS SYT9 143425 broad.mit.edu 37 11 7334699 7334699 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:7334699C>A uc001mfe.2 + 3 808 c.571C>A c.(571-573)CAG>AAG p.Q191K SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 191 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) AAAACAGGAACAGTTGACTGG 0.413 10 50 --- --- --- --- PASS USP47 55031 broad.mit.edu 37 11 11964541 11964541 + Missense_Mutation SNP A C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:11964541A>C uc001mjq.1 + 21 3796 c.3033A>C c.(3031-3033)GAA>GAC p.E1011D USP47_uc001mjr.2_Missense_Mutation_p.E923D|USP47_uc001mjs.2_Missense_Mutation_p.E991D|USP47_uc001mjt.1_Missense_Mutation_p.E297D NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1011 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) CAGCAGAAGAAGACTCTGGAA 0.408 22 67 --- --- --- --- PASS SOX6 55553 broad.mit.edu 37 11 16007843 16007843 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:16007843G>A uc001mme.2 - 15 2162 c.2129C>T c.(2128-2130)ACC>ATC p.T710I SOX6_uc001mmd.2_Missense_Mutation_p.T673I|SOX6_uc001mmf.2_Missense_Mutation_p.T670I|SOX6_uc001mmg.2_Missense_Mutation_p.T677I NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 697 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 AACAATGCAGGTGCGTTTCGG 0.468 23 229 --- --- --- --- PASS MRGPRX4 117196 broad.mit.edu 37 11 18195179 18195179 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:18195179T>A uc001mnv.1 + 1 796 c.376T>A c.(376-378)TGG>AGG p.W126R NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 126 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GTCTGTTCTGTGGCCCATCTG 0.587 24 161 --- --- --- --- PASS SLC1A2 6506 broad.mit.edu 37 11 35287091 35287091 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:35287091T>A uc001mwd.2 - 10 2228 c.1636A>T c.(1636-1638)ATA>TTA p.I546L SLC1A2_uc001mwe.2_Missense_Mutation_p.I537L|SLC1A2_uc010rev.1_Missense_Mutation_p.I546L NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 546 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) TCATCTACTATGACAGAGTTG 0.358 27 128 --- --- --- --- PASS SYT13 57586 broad.mit.edu 37 11 45265746 45265746 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:45265746C>A uc001myq.2 - 6 1264 c.1138G>T c.(1138-1140)GGC>TGC p.G380C SYT13_uc009yku.1_Missense_Mutation_p.G236C NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 380 C2 2.|Cytoplasmic (Potential). transport vesicle ovary(1) 1 TCGTCCTGGCCCAGCACTTCC 0.602 11 35 --- --- --- --- PASS ZNF408 79797 broad.mit.edu 37 11 46726892 46726892 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:46726892G>C uc001nde.1 + 5 1872 c.1642G>C c.(1642-1644)GGG>CGG p.G548R ZNF408_uc010rgw.1_Missense_Mutation_p.G540R NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN zinc finger protein 408 548 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding 0 CTCACACACCGGGGAGGCCCA 0.672 5 30 --- --- --- --- PASS MYBPC3 4607 broad.mit.edu 37 11 47365127 47365127 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:47365127T>A uc001nfa.3 - 13 1194 c.1139A>T c.(1138-1140)AAG>ATG p.K380M MYBPC3_uc010rhl.1_5'Flank NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 380 Ig-like C2-type 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) CAGCCGGATCTTGTGGCCTTT 0.647 6 17 --- --- --- --- PASS OR4X2 119764 broad.mit.edu 37 11 48267133 48267133 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:48267133T>C uc001ngs.1 + 1 478 c.478T>C c.(478-480)TTC>CTC p.F160L NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 160 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCACCTGCTCTTCTGTGGCCC 0.483 32 262 --- --- --- --- PASS OR4C12 283093 broad.mit.edu 37 11 50003572 50003572 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:50003572T>C uc010ria.1 - 1 466 c.466A>G c.(466-468)ATT>GTT p.I156V NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 AGAATCTGAATAGTTGCATGA 0.478 37 165 --- --- --- --- PASS OR8H3 390152 broad.mit.edu 37 11 55890376 55890376 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:55890376C>T uc001nii.1 + 1 528 c.528C>T c.(526-528)CAC>CAT p.H176H NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TAATTCATCACTTTTTCTGTG 0.428 5 142 --- --- --- --- PASS OR5M10 390167 broad.mit.edu 37 11 56344762 56344762 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:56344762T>C uc001niz.1 - 1 436 c.436A>G c.(436-438)ACT>GCT p.T146A NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAAGGCACAGTGACCAGAGAG 0.443 26 87 --- --- --- --- PASS OR5AP2 338675 broad.mit.edu 37 11 56409758 56409758 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:56409758A>T uc001njb.1 - 1 158 c.158T>A c.(157-159)GTA>GAA p.V53E NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 53 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 CTTAATCAATACAATCATCCC 0.428 15 51 --- --- --- --- PASS OR5AR1 219493 broad.mit.edu 37 11 56431618 56431618 + Missense_Mutation SNP C A A rs77272836 byFrequency TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:56431618C>A uc010rjm.1 + 1 457 c.457C>A c.(457-459)CTA>ATA p.L153I NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTGGCTGGTCTAGTGAGTTT 0.502 33 153 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62298001 62298001 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:62298001A>T uc001ntl.2 - 5 4188 c.3888T>A c.(3886-3888)GAT>GAA p.D1296E AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1296 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CAAGGCTCACATCTGGGACTT 0.557 51 252 --- --- --- --- PASS RBM14 10432 broad.mit.edu 37 11 66391822 66391822 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:66391822G>C uc001oit.2 + 2 614 c.475G>C c.(475-477)GTC>CTC p.V159L RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 159 DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 TGGCCTGGCTGTCCAGTCTGG 0.592 7 58 --- --- --- --- PASS NADSYN1 55191 broad.mit.edu 37 11 71208566 71208566 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:71208566A>G uc001oqn.2 + 19 1928 c.1802A>G c.(1801-1803)TAT>TGT p.Y601C NADSYN1_uc001oqo.2_Missense_Mutation_p.Y341C|NADSYN1_uc001oqp.2_Missense_Mutation_p.Y230C NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 601 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTCTCGGTCTATGGGAAACTC 0.532 15 50 --- --- --- --- PASS FOLH1B 219595 broad.mit.edu 37 11 89431764 89431764 + Silent SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:89431764C>A uc001pda.2 + 14 1852 c.1326C>A c.(1324-1326)GCC>GCA p.A442A NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 442 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 GTGAAGTAGCCTAAGAGGATT 0.398 10 76 --- --- --- --- PASS GRIK4 2900 broad.mit.edu 37 11 120673443 120673443 + Silent SNP C A A rs139978243 TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:120673443C>A uc001pxn.2 + 4 411 c.124C>A c.(124-126)CGG>AGG p.R42R GRIK4_uc009zav.1_Silent_p.R42R|GRIK4_uc009zaw.1_Silent_p.R42R|GRIK4_uc009zax.1_Silent_p.R42R NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 42 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CAGAGGGGAGCGGCTCTCCAT 0.587 OREG0021427 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 70 --- --- --- --- PASS GRIK4 2900 broad.mit.edu 37 11 120827614 120827614 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:120827614C>G uc001pxn.2 + 16 2113 c.1826C>G c.(1825-1827)TCC>TGC p.S609C GRIK4_uc009zav.1_Missense_Mutation_p.S609C|GRIK4_uc009zaw.1_Missense_Mutation_p.S609C|GRIK4_uc009zax.1_Missense_Mutation_p.S609C NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 609 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CAGCAAGGCTCCACCATCGCC 0.647 12 35 --- --- --- --- PASS ROBO3 64221 broad.mit.edu 37 11 124740079 124740079 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:124740079G>T uc001qbc.2 + 5 977 c.785G>T c.(784-786)CGC>CTC p.R262L NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 262 Ig-like C2-type 3.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TCATTCCTGCGCAGACCAGTG 0.552 15 107 --- --- --- --- PASS CCDC15 80071 broad.mit.edu 37 11 124857197 124857197 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:124857197G>T uc001qbm.3 + 8 1334 c.1075G>T c.(1075-1077)GAT>TAT p.D359Y NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 359 centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) TGTTAAGCCAGATACCCAGGC 0.473 22 130 --- --- --- --- PASS ACAD8 27034 broad.mit.edu 37 11 134127012 134127012 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr11:134127012G>A uc001qhk.2 + 3 302 c.241G>A c.(241-243)GCA>ACA p.A81T ACAD8_uc009zdc.2_Intron|ACAD8_uc010sco.1_Intron|ACAD8_uc010scp.1_Intron|ACAD8_uc010scq.1_Missense_Mutation_p.A4T|ACAD8_uc001qhl.2_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.A43T|ACAD8_uc009zde.1_5'Flank NM_014384 NP_055199 Q9UKU7 ACAD8_HUMAN acyl-Coenzyme A dehydrogenase family, member 8 81 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding 0 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) GATGCGGAAGGCAGCCCAGCT 0.532 14 83 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2676868 2676868 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:2676868G>T uc009zdu.1 + 13 2116 c.1803G>T c.(1801-1803)CTG>CTT p.L601L CACNA1C_uc009zdv.1_Silent_p.L598L|CACNA1C_uc001qkb.2_Silent_p.L601L|CACNA1C_uc001qkc.2_Silent_p.L601L|CACNA1C_uc001qke.2_Silent_p.L601L|CACNA1C_uc001qkf.2_Silent_p.L601L|CACNA1C_uc001qjz.2_Silent_p.L601L|CACNA1C_uc001qkd.2_Silent_p.L601L|CACNA1C_uc001qkg.2_Silent_p.L601L|CACNA1C_uc009zdw.1_Silent_p.L601L|CACNA1C_uc001qkh.2_Silent_p.L601L|CACNA1C_uc001qkl.2_Silent_p.L601L|CACNA1C_uc001qkn.2_Silent_p.L601L|CACNA1C_uc001qko.2_Silent_p.L601L|CACNA1C_uc001qkp.2_Silent_p.L601L|CACNA1C_uc001qkr.2_Silent_p.L601L|CACNA1C_uc001qku.2_Silent_p.L601L|CACNA1C_uc001qkq.2_Silent_p.L601L|CACNA1C_uc001qks.2_Silent_p.L601L|CACNA1C_uc001qkt.2_Silent_p.L601L|CACNA1C_uc001qka.1_Silent_p.L136L|CACNA1C_uc001qki.1_Silent_p.L337L|CACNA1C_uc001qkj.1_Silent_p.L337L|CACNA1C_uc001qkk.1_Silent_p.L337L|CACNA1C_uc001qkm.1_Silent_p.L337L NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 601 Helical; Name=S3 of repeat II; (Potential).|II. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCGGCATCCTGGAGACCATCC 0.582 5 27 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2800348 2800348 + Missense_Mutation SNP T G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:2800348T>G uc009zdu.1 + 50 6962 c.6649T>G c.(6649-6651)TAC>GAC p.Y2217D CACNA1C_uc009zdv.1_Missense_Mutation_p.Y2131D|CACNA1C_uc001qkb.2_Missense_Mutation_p.Y2134D|CACNA1C_uc001qkc.2_Missense_Mutation_p.Y2153D|CACNA1C_uc001qke.2_Missense_Mutation_p.Y2123D|CACNA1C_uc001qkf.2_Missense_Mutation_p.Y2142D|CACNA1C_uc001qjz.2_Missense_Mutation_p.Y2134D|CACNA1C_uc001qkd.2_Missense_Mutation_p.Y2153D|CACNA1C_uc001qkg.2_Missense_Mutation_p.Y2140D|CACNA1C_uc009zdw.1_Missense_Mutation_p.Y2175D|CACNA1C_uc001qkh.2_Missense_Mutation_p.Y2142D|CACNA1C_uc001qkl.2_Missense_Mutation_p.Y2182D|CACNA1C_uc001qkn.2_Missense_Mutation_p.Y2134D|CACNA1C_uc001qko.2_Missense_Mutation_p.Y2154D|CACNA1C_uc001qkp.2_Missense_Mutation_p.Y2134D|CACNA1C_uc001qkr.2_Missense_Mutation_p.Y2151D|CACNA1C_uc001qku.2_Missense_Mutation_p.Y2169D|CACNA1C_uc001qkq.2_Missense_Mutation_p.Y2162D|CACNA1C_uc001qks.2_Missense_Mutation_p.Y2134D|CACNA1C_uc001qkt.2_Missense_Mutation_p.Y2153D|CACNA1C_uc001qki.1_Missense_Mutation_p.Y1941D|CACNA1C_uc001qkj.1_Missense_Mutation_p.Y1905D|CACNA1C_uc001qkk.1_Missense_Mutation_p.Y1870D|CACNA1C_uc001qkm.1_Missense_Mutation_p.Y1930D|CACNA1C_uc010sea.1_Missense_Mutation_p.Y825D|uc001qkx.1_5'Flank|CACNA1C_uc001qky.1_Missense_Mutation_p.Y452D NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 2217 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CAGCAGGGTCTACGTCAGCAG 0.612 9 35 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7528442 7528442 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:7528442C>A uc001qsy.2 - 10 2566 c.2540G>T c.(2539-2541)GGA>GTA p.G847V CD163L1_uc010sge.1_Missense_Mutation_p.G857V NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 847 SRCR 8.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 AAAGTGATCTCCCACAGAAAG 0.463 30 104 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7633838 7633838 + Nonsense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:7633838C>A uc001qsz.3 - 15 3390 c.3262G>T c.(3262-3264)GAG>TAG p.E1088* CD163_uc001qta.3_Nonsense_Mutation_p.E1088*|CD163_uc009zfw.2_Nonsense_Mutation_p.E1121* NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1088 Cytoplasmic (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 ACTAAGTTCTCTCCTCTTGAG 0.428 26 115 --- --- --- --- PASS KLRF1 51348 broad.mit.edu 37 12 9985926 9985926 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:9985926A>G uc010sgw.1 + 3 276 c.212A>G c.(211-213)CAA>CGA p.Q71R KLRF1_uc009zgw.2_Intron|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_Intron|KLRF1_uc009zgz.2_Missense_Mutation_p.Q71R|KLRF1_uc009zha.2_Intron NM_016523 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, 71 Extracellular (Potential). cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding large_intestine(1) 1 CTAAAATGCCAAAAAGGAAGT 0.358 10 36 --- --- --- --- PASS PRH1 5554 broad.mit.edu 37 12 11034868 11034868 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:11034868G>A uc001qzc.2 - 8 1055 c.467C>T c.(466-468)CCA>CTA p.P156L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_RNA|PRB4_uc001qzf.1_Intron NM_006250 NP_006241 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 1 156 extracellular space protein binding 0 BRCA - Breast invasive adenocarcinoma(232;0.245) AGGTCCTTGTGGGCGGCCCCC 0.577 23 143 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13716470 13716470 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:13716470C>T uc001rbt.2 - 13 3881 c.3702G>A c.(3700-3702)TCG>TCA p.S1234S NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1234 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTGCCTGCCCGAGTTCTGAC 0.617 14 63 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20806910 20806910 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:20806910C>T uc001reh.1 + 15 2977 c.2955C>T c.(2953-2955)CCC>CCT p.P985P NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 985 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TTGGATTACCCATAAGCCCCT 0.458 21 95 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21392004 21392004 + Nonsense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:21392004G>T uc001req.3 + 15 2061 c.1957G>T c.(1957-1959)GAG>TAG p.E653* NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 653 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) AAAATATCAAGAGAAAGATAT 0.323 5 43 --- --- --- --- PASS DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:31237922G>C uc001rjt.1 + 5 751 c.500G>C c.(499-501)AGA>ACA p.R167T DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612 Multiple Myeloma(12;0.14) 3 16 --- --- --- --- PASS PKP2 5318 broad.mit.edu 37 12 33021918 33021918 + Silent SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:33021918A>G uc001rlj.3 - 4 1228 c.1113T>C c.(1111-1113)TCT>TCC p.S371S PKP2_uc001rlk.3_Silent_p.S371S|PKP2_uc010skj.1_Silent_p.S371S NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 371 ARM 1. cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TAGCTGCAGCAGAAATCCTGG 0.502 28 106 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40681156 40681156 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:40681156T>C uc001rmg.3 + 20 2625 c.2504T>C c.(2503-2505)ATA>ACA p.I835T LRRK2_uc001rmh.1_Missense_Mutation_p.I457T NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 835 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) TTTTCAGATATAGCATCTACA 0.373 6 29 --- --- --- --- PASS PDZRN4 29951 broad.mit.edu 37 12 41967358 41967358 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:41967358C>G uc010skn.1 + 10 2248 c.2180C>G c.(2179-2181)ACC>AGC p.T727S PDZRN4_uc001rmq.3_Missense_Mutation_p.T668S|PDZRN4_uc009zjz.2_Missense_Mutation_p.T666S|PDZRN4_uc001rmr.2_Missense_Mutation_p.T553S NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 926 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AGTGGCATGACCACAGACGAT 0.552 17 43 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46244007 46244007 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:46244007A>T uc001ros.1 + 15 2101 c.2101A>T c.(2101-2103)ACT>TCT p.T701S ARID2_uc001ror.2_Missense_Mutation_p.T701S|ARID2_uc009zkg.1_Missense_Mutation_p.T157S|ARID2_uc009zkh.1_Missense_Mutation_p.T328S|ARID2_uc001rou.1_Missense_Mutation_p.T35S NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 701 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGCTCCAGTGACTGTCATTCA 0.418 32 124 --- --- --- --- PASS TROAP 10024 broad.mit.edu 37 12 49723709 49723709 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:49723709C>A uc001rtx.3 + 12 1401 c.1234C>A c.(1234-1236)CCG>ACG p.P412T TROAP_uc009zlh.2_Missense_Mutation_p.P412T|TROAP_uc001rty.2_Missense_Mutation_p.P120T NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 412 cell adhesion cytoplasm ovary(1) 1 TGGGAAACCACCGGTGGCCAC 0.537 28 119 --- --- --- --- PASS HOXC10 3226 broad.mit.edu 37 12 54379715 54379715 + Silent SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:54379715A>G uc001sen.2 + 1 770 c.672A>G c.(670-672)AAA>AAG p.K224K NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 224 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 CGGGCCCTAAAGGGAGCCCCT 0.637 8 28 --- --- --- --- PASS ERBB3 2065 broad.mit.edu 37 12 56489049 56489049 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:56489049G>A uc001sjh.2 + 16 2061 c.1868G>A c.(1867-1869)GGA>GAA p.G623E ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_5'UTR|ERBB3_uc010sqc.1_Missense_Mutation_p.G564E|ERBB3_uc009zok.2_Missense_Mutation_p.G65E|ERBB3_uc001sjk.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 623 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGGTGTAAAGGACCAGAGCTT 0.448 18 81 --- --- --- --- PASS MARS 4141 broad.mit.edu 37 12 57884426 57884426 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:57884426G>A uc001sog.2 + 7 792 c.769G>A c.(769-771)GTG>ATG p.V257M ARHGAP9_uc001sod.2_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_RNA|MARS_uc010srp.1_Missense_Mutation_p.V130M|MARS_uc010srq.1_Missense_Mutation_p.V23M NM_004990 NP_004981 P56192 SYMC_HUMAN methionyl-tRNA synthetase 257 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding ovary(3)|central_nervous_system(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) GCAGAATCCAGTGTGAGTAGA 0.532 17 71 --- --- --- --- PASS SLC16A7 9194 broad.mit.edu 37 12 60168512 60168512 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:60168512G>T uc001sqs.2 + 5 735 c.436G>T c.(436-438)GCA>TCA p.A146S SLC16A7_uc001sqt.2_Missense_Mutation_p.A146S|SLC16A7_uc001squ.2_Missense_Mutation_p.A146S|SLC16A7_uc009zqi.2_Missense_Mutation_p.A47S|SLC16A7_uc010ssi.1_Missense_Mutation_p.A47S NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 146 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) GCGACCCATGGCAAATGGATT 0.418 18 77 --- --- --- --- PASS RAB3IP 117177 broad.mit.edu 37 12 70194074 70194074 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:70194074A>T uc001svp.2 + 7 1469 c.1022A>T c.(1021-1023)TAC>TTC p.Y341F RAB3IP_uc001svm.2_Missense_Mutation_p.Y325F|RAB3IP_uc001svn.2_Missense_Mutation_p.Y325F|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Missense_Mutation_p.Y341F|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Missense_Mutation_p.Y119F NM_175623 NP_783322 Q96QF0 RAB3I_HUMAN RAB3A interacting protein isoform alpha 2 341 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) GACAAAATCTACCAGGAAGAT 0.343 8 44 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78444913 78444913 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:78444913T>A uc001syp.2 + 11 2675 c.2502T>A c.(2500-2502)GAT>GAA p.D834E NAV3_uc001syo.2_Missense_Mutation_p.D834E|NAV3_uc010sub.1_Missense_Mutation_p.D334E NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 834 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCAGGACTGATGACATCAACA 0.443 HNSCC(70;0.22) 27 111 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78582517 78582517 + Nonsense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:78582517C>A uc001syp.2 + 33 6188 c.6015C>A c.(6013-6015)TAC>TAA p.Y2005* NAV3_uc001syo.2_Nonsense_Mutation_p.Y1983*|NAV3_uc010sub.1_Nonsense_Mutation_p.Y1462*|NAV3_uc009zsf.2_Nonsense_Mutation_p.Y814* NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2005 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTTGTGGATACCTTGTTGGAG 0.388 HNSCC(70;0.22) 19 103 --- --- --- --- PASS VEZT 55591 broad.mit.edu 37 12 95668562 95668562 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:95668562G>A uc001tdz.2 + 7 998 c.893G>A c.(892-894)TGT>TAT p.C298Y VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_Translation_Start_Site|VEZT_uc001tdy.2_RNA NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 298 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 AACTACATCTGTGTGGTGCCT 0.423 38 146 --- --- --- --- PASS CDK17 5128 broad.mit.edu 37 12 96728577 96728577 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:96728577C>A uc001tep.1 - 2 527 c.38G>T c.(37-39)CGA>CTA p.R13L CDK17_uc009ztk.2_Missense_Mutation_p.R13L|CDK17_uc010svb.1_Intron NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 13 ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 CTGACTTCCTCGGAGTGTGAG 0.353 7 35 --- --- --- --- PASS NT5DC3 51559 broad.mit.edu 37 12 104171830 104171830 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr12:104171830T>C uc010swe.1 - 14 1465 c.1424A>G c.(1423-1425)CAG>CGG p.Q475R NT5DC3_uc010swd.1_5'Flank NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 475 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 GCTTCCAAACTGGGCATTGAA 0.458 14 68 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 29005411 29005411 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr13:29005411G>T uc001usb.3 - 7 1135 c.850C>A c.(850-852)CAA>AAA p.Q284K FLT1_uc010aar.1_Missense_Mutation_p.Q284K|FLT1_uc001usc.3_Missense_Mutation_p.Q284K|FLT1_uc010tdp.1_Missense_Mutation_p.Q284K NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 284 Extracellular (Potential).|Ig-like C2-type 3. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GAATTGCTTTGGTCAATTCGT 0.363 23 51 --- --- --- --- PASS FARP1 10160 broad.mit.edu 37 13 99092415 99092415 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr13:99092415A>G uc001vnj.2 + 23 2891 c.2555A>G c.(2554-2556)CAG>CGG p.Q852R FARP1_uc001vnh.2_Missense_Mutation_p.Q883R NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 852 PH 1. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GAGGACATCCAGATGGCCATT 0.612 38 120 --- --- --- --- PASS OR11H12 440153 broad.mit.edu 37 14 19377657 19377657 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:19377657G>T uc010tkp.1 + 1 64 c.64G>T c.(64-66)GCT>TCT p.A22S NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTCCAGCTTTGCTTTTGTAAA 0.383 22 100 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389730 20389730 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:20389730T>A uc010tkw.1 + 1 965 c.965T>A c.(964-966)TTT>TAT p.F322Y NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 322 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGAACTTCCTTTCATTAAGAC 0.368 18 107 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23887604 23887604 + Silent SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:23887604G>C uc001wjx.2 - 30 4090 c.3984C>G c.(3982-3984)GCC>GCG p.A1328A MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1328 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CGTGGGCCAGGGCGTTCTTCG 0.642 7 45 --- --- --- --- PASS CLEC14A 161198 broad.mit.edu 37 14 38724724 38724724 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:38724724G>A uc001wum.1 - 1 851 c.504C>T c.(502-504)GGC>GGT p.G168G NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 168 Extracellular (Potential).|C-type lectin. integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) TGCACAGGTAGCCGTTGGCGC 0.577 10 67 --- --- --- --- PASS PELI2 57161 broad.mit.edu 37 14 56757046 56757046 + Missense_Mutation SNP G A A rs137897340 byFrequency TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:56757046G>A uc001xch.2 + 5 854 c.568G>A c.(568-570)GTC>ATC p.V190I NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 190 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 TACTAATGGCGTCCTGGTGAT 0.547 25 131 --- --- --- --- PASS MUDENG 55745 broad.mit.edu 37 14 57746974 57746974 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:57746974C>G uc001xcv.2 + 3 1209 c.782C>G c.(781-783)TCT>TGT p.S261C MUDENG_uc010tri.1_Missense_Mutation_p.S15C|MUDENG_uc010trj.1_Missense_Mutation_p.S158C NM_018229 NP_060699 Q9H0R1 MUDEN_HUMAN Mu-2 related death-inducing protein 261 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ovary(1) 1 ACCAATGGATCTCCACTTCAG 0.398 38 244 --- --- --- --- PASS C14orf37 145407 broad.mit.edu 37 14 58606016 58606016 + Missense_Mutation SNP C A A rs147297953 byFrequency TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:58606016C>A uc001xdc.2 - 2 172 c.61G>T c.(61-63)GTT>TTT p.V21F C14orf37_uc010tro.1_Missense_Mutation_p.V59F|C14orf37_uc001xdd.2_Missense_Mutation_p.V21F|C14orf37_uc001xde.2_Missense_Mutation_p.V21F NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 21 integral to membrane binding 0 TGTGTGGCAACGCTGAAAAGC 0.473 28 127 --- --- --- --- PASS EIF2S1 1965 broad.mit.edu 37 14 67831577 67831577 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:67831577G>A uc001xjg.2 + 2 234 c.93G>A c.(91-93)GGG>GGA p.G31G NM_004094 NP_004085 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, 31 S1 motif. cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule protein binding|ribosome binding|translation initiation factor activity ovary(1) 1 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) CTGAAATGGGGGCTTATGTCA 0.284 31 132 --- --- --- --- PASS COX16 51241 broad.mit.edu 37 14 70826258 70826258 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:70826258A>T uc001xmb.2 - 1 187 c.47T>A c.(46-48)CTC>CAC p.L16H NM_016468 NP_057552 Q9P0S2 COX16_HUMAN COX16 cytochrome c oxidase assembly homolog 16 Helical; (Potential). integral to membrane|mitochondrial membrane 0 TCCATAGCCGAGAGTCTTGTT 0.577 10 43 --- --- --- --- PASS DCAF4 26094 broad.mit.edu 37 14 73406560 73406560 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:73406560A>G uc001xng.2 + 3 363 c.143A>G c.(142-144)GAC>GGC p.D48G DCAF4_uc001xnj.2_Missense_Mutation_p.D48G|DCAF4_uc010ttr.1_Missense_Mutation_p.T37A|DCAF4_uc001xnh.2_5'UTR|DCAF4_uc010tts.1_Missense_Mutation_p.D48G|DCAF4_uc010ttt.1_5'UTR|DCAF4_uc001xni.2_Missense_Mutation_p.D48G|DCAF4_uc001xnk.2_Missense_Mutation_p.D48G NM_015604 NP_056419 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 isoform 1 48 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1)|skin(1) 3 CACGGTGATGACGAGTCTCCG 0.617 6 16 --- --- --- --- PASS UBR7 55148 broad.mit.edu 37 14 93685054 93685054 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:93685054C>T uc001ybm.3 + 7 1019 c.783C>T c.(781-783)GCC>GCT p.A261A UBR7_uc001ybn.3_Silent_p.A185A|UBR7_uc010auq.2_Silent_p.A110A NM_175748 NP_786924 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 261 ubiquitin-protein ligase activity|zinc ion binding 0 AACCATGTGCCGGCTCTAGTT 0.378 18 66 --- --- --- --- PASS C14orf177 283598 broad.mit.edu 37 14 99182725 99182725 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr14:99182725G>C uc001yfz.1 + 3 616 c.197G>C c.(196-198)TGT>TCT p.C66S NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 66 0 Melanoma(154;0.128) GCCAGGTGCTGTGGTAAGTAT 0.473 7 30 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25940176 25940176 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr15:25940176G>T uc010ayu.2 - 14 2984 c.2878C>A c.(2878-2880)CCC>ACC p.P960T NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 960 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GACGTGGAGGGTGGGCAGAGA 0.587 16 95 --- --- --- --- PASS GABRG3 2567 broad.mit.edu 37 15 27572065 27572065 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr15:27572065G>C uc001zbg.1 + 4 546 c.380G>C c.(379-381)TGG>TCG p.W127S GABRG3_uc001zbf.2_Missense_Mutation_p.W127S NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 127 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GGGTTAATCTGGATCCCAGAC 0.458 16 128 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33990158 33990158 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr15:33990158G>T uc001zhi.2 + 40 6280 c.6210G>T c.(6208-6210)ATG>ATT p.M2070I RYR3_uc010bar.2_Missense_Mutation_p.M2070I NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2070 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGACGGTGATGGAGGTGATGG 0.488 17 140 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34015032 34015032 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr15:34015032G>T uc001zhi.2 + 44 6806 c.6736G>T c.(6736-6738)GGT>TGT p.G2246C RYR3_uc010bar.2_Missense_Mutation_p.G2246C NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2246 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGCCATGCAGGGTGCCATTAA 0.582 28 104 --- --- --- --- PASS MGA 23269 broad.mit.edu 37 15 42057152 42057152 + Missense_Mutation SNP C T T rs143075460 by1000genomes TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr15:42057152C>T uc010ucy.1 + 23 7994 c.7813C>T c.(7813-7815)CTC>TTC p.L2605F MGA_uc010ucz.1_Missense_Mutation_p.L2396F NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2566 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AGGGCAATTGCTCACCCTAAA 0.458 30 108 --- --- --- --- PASS UBR1 197131 broad.mit.edu 37 15 43281054 43281054 + Silent SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr15:43281054C>A uc001zqq.2 - 35 4026 c.3960G>T c.(3958-3960)CTG>CTT p.L1320L NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1320 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TGCTCCAGGTCAGCATGGGGA 0.413 41 112 --- --- --- --- PASS PRTG 283659 broad.mit.edu 37 15 55972345 55972345 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr15:55972345C>T uc002adg.2 - 6 928 c.880G>A c.(880-882)GTC>ATC p.V294I NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 294 Ig-like 3. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGTAGCCTGACATCAGATATC 0.383 14 35 --- --- --- --- PASS PLEKHO2 80301 broad.mit.edu 37 15 65153739 65153739 + Nonsense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr15:65153739C>T uc002anv.2 + 5 582 c.448C>T c.(448-450)CGA>TGA p.R150* PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Nonsense_Mutation_p.R100* NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 150 ovary(1)|lung(1) 2 AGGGGGCCAGCGACGCCGGCC 0.647 5 38 --- --- --- --- PASS LINGO1 84894 broad.mit.edu 37 15 77908027 77908027 + Silent SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr15:77908027G>C uc002bct.1 - 2 274 c.222C>G c.(220-222)CGC>CGG p.R74R LINGO1_uc002bcu.1_Silent_p.R68R NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 74 Extracellular (Potential).|LRR 1. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 GGTCCAGCAGGCGCGTCTCGG 0.662 4 12 --- --- --- --- PASS MEFV 4210 broad.mit.edu 37 16 3293469 3293469 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:3293469G>T uc002cun.1 - 10 2058 c.2018C>A c.(2017-2019)TCC>TAC p.S673Y NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 673 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) CCTGCTTATGGATGTCTTGCA 0.542 28 105 --- --- --- --- PASS TMC5 79838 broad.mit.edu 37 16 19451423 19451423 + Silent SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:19451423G>C uc002dgc.3 + 3 812 c.63G>C c.(61-63)GGG>GGC p.G21G TMC5_uc010vaq.1_Silent_p.G21G|TMC5_uc002dgb.3_Silent_p.G21G|TMC5_uc010var.1_Silent_p.G21G NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 21 Extracellular (Potential). integral to membrane skin(1) 1 ACTATTCAGGGTCTCAGAACC 0.493 17 112 --- --- --- --- PASS ZP2 7783 broad.mit.edu 37 16 21215489 21215489 + Silent SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:21215489T>C uc002dii.2 - 9 834 c.834A>G c.(832-834)CCA>CCG p.P278P ZP2_uc010bwn.1_Silent_p.P317P|ZP2_uc010bwo.2_Silent_p.P317P NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 278 Extracellular (Potential). binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) CAGGAAACTCTGGTATGGTGA 0.443 22 70 --- --- --- --- PASS SEZ6L2 26470 broad.mit.edu 37 16 29888632 29888632 + Silent SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:29888632T>A uc002duq.3 - 11 2109 c.1869A>T c.(1867-1869)CCA>CCT p.P623P uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.P553P|SEZ6L2_uc002dur.3_Silent_p.P553P|SEZ6L2_uc002dus.3_Silent_p.P509P|SEZ6L2_uc010vec.1_Silent_p.P623P|SEZ6L2_uc010ved.1_Silent_p.P579P NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 623 CUB 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GGCCTGGATTTGGGGGCCCGG 0.682 4 37 --- --- --- --- PASS TAOK2 9344 broad.mit.edu 37 16 29997089 29997089 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:29997089G>T uc002dva.1 + 15 2682 c.1899G>T c.(1897-1899)CGG>CGT p.R633R uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.R633R|TAOK2_uc002dvc.1_Silent_p.R633R|TAOK2_uc010bzm.1_Silent_p.R640R|TAOK2_uc002dvd.1_Silent_p.R460R NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 633 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GGCTGCTGCGGCGGCAGCGCC 0.657 3 14 --- --- --- --- PASS BCL7C 9274 broad.mit.edu 37 16 30899246 30899246 + Silent SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:30899246T>A uc002dzv.2 - 6 728 c.594A>T c.(592-594)ACA>ACT p.T198T BCL7C_uc002dzt.1_Intron|uc002dzu.2_Intron NM_004765 NP_004756 Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 198 Pro-rich. apoptosis 0 Colorectal(24;0.198) CCGAGTCCTCTGTGTCACCCT 0.657 30 178 --- --- --- --- PASS TRIM72 493829 broad.mit.edu 37 16 31230814 31230814 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:31230814G>C uc002ebn.1 + 4 920 c.691G>C c.(691-693)GAC>CAC p.D231H PYDC1_uc002ebo.2_5'Flank NM_001008274 NP_001008275 Q6ZMU5 TRI72_HUMAN tripartite motif-containing 72 231 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding 0 GGAGGTGGCGGACAAGCCGCA 0.652 8 27 --- --- --- --- PASS SLC6A2 6530 broad.mit.edu 37 16 55734196 55734196 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:55734196G>T uc002eif.2 + 13 1847 c.1736G>T c.(1735-1737)AGC>ATC p.S579I SLC6A2_uc010ccd.2_Intron|SLC6A2_uc002eig.2_Missense_Mutation_p.S579I|SLC6A2_uc002eih.2_Missense_Mutation_p.S579I|SLC6A2_uc002eii.2_Missense_Mutation_p.S474I|SLC6A2_uc002eij.2_Missense_Mutation_p.S293I NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 579 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) AAGTTCCTCAGCACGCAGGGC 0.627 15 61 --- --- --- --- PASS CDH16 1014 broad.mit.edu 37 16 66944196 66944196 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:66944196C>A uc002eql.2 - 15 2207 c.2134G>T c.(2134-2136)GTG>TTG p.V712L CDH16_uc010cdy.2_Missense_Mutation_p.V690L|CDH16_uc002eqm.2_Missense_Mutation_p.V615L NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 712 Extracellular (Potential).|Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TCCCGTTGCACCGTGGGGTTG 0.627 24 54 --- --- --- --- PASS DUS2L 54920 broad.mit.edu 37 16 68087518 68087518 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:68087518G>A uc002evi.2 + 5 373 c.224G>A c.(223-225)CGC>CAC p.R75H DUS2L_uc002evj.2_Missense_Mutation_p.R75H|DUS2L_uc010vkk.1_Missense_Mutation_p.R75H|DUS2L_uc010cez.2_5'UTR NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN dihydrouridine synthase 2-like, SMM1 homolog 75 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) GTTGTCTTCCGCACCTGTGAA 0.527 13 71 --- --- --- --- PASS COG4 25839 broad.mit.edu 37 16 70531872 70531872 + Nonsense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:70531872C>A uc002ezc.2 - 10 1293 c.1282G>T c.(1282-1284)GAG>TAG p.E428* COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Nonsense_Mutation_p.E428*|COG4_uc002eze.2_Nonsense_Mutation_p.E122* NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 424 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) AAGTACTCCTCCATGGTAACA 0.498 25 177 --- --- --- --- PASS COG4 25839 broad.mit.edu 37 16 70531873 70531873 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:70531873C>A uc002ezc.2 - 10 1292 c.1281G>T c.(1279-1281)ATG>ATT p.M427I COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.M427I|COG4_uc002eze.2_Missense_Mutation_p.M121I NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 423 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) AGTACTCCTCCATGGTAACAT 0.493 24 176 --- --- --- --- PASS SLC38A8 146167 broad.mit.edu 37 16 84050258 84050258 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr16:84050258C>A uc002fhg.1 - 8 1028 c.1028G>T c.(1027-1029)GGG>GTG p.G343V NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 343 amino acid transport|sodium ion transport integral to membrane 0 GACCCACAGCCCTGAGGGGTC 0.647 13 58 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:7578395G>A uc002gim.2 - 5 729 c.535C>T c.(535-537)CAT>TAT p.H179Y TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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) CAGCGCTCATGGTGGGGGCAG 0.642 111 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) 24 39 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10428931 10428931 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:10428931G>T uc010coi.2 - 32 4502 c.4374C>A c.(4372-4374)ATC>ATA p.I1458I uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.I1458I|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1458 Potential. 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 ATTCTGCCAGGATCTGAAAAA 0.463 21 38 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10438500 10438500 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:10438500C>A uc010coi.2 - 19 2198 c.2070G>T c.(2068-2070)ATG>ATT p.M690I uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.M690I|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 690 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 GCTCATGCTCCATGGCACCTA 0.458 19 42 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10438501 10438501 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:10438501A>T uc010coi.2 - 19 2197 c.2069T>A c.(2068-2070)ATG>AAG p.M690K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.M690K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 690 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 CTCATGCTCCATGGCACCTAA 0.458 18 41 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21318931 21318931 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:21318931G>T uc002gyv.1 + 3 982 c.277G>T c.(277-279)GCC>TCC p.A93S NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 93 Helical; Name=M1; (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GGCCTTCCTTGCCTCCTGGCT 0.622 Prostate(3;0.18) 4 62 --- --- --- --- PASS UTP6 55813 broad.mit.edu 37 17 30214305 30214305 + Nonsense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:30214305C>A uc002hgr.2 - 8 654 c.571G>T c.(571-573)GAA>TAA p.E191* UTP6_uc002hgq.2_Nonsense_Mutation_p.E7*|UTP6_uc010cst.2_Nonsense_Mutation_p.E40*|UTP6_uc010wbw.1_Nonsense_Mutation_p.E191* NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN hepatocellular carcinoma-associated antigen 66 191 rRNA processing nucleolus binding ovary(1) 1 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) CTCAGTTTTTCAGCATGCATC 0.289 3 47 --- --- --- --- PASS AMAC1 146861 broad.mit.edu 37 17 33520925 33520925 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:33520925G>A uc002hjd.2 - 1 488 c.402C>T c.(400-402)CGC>CGT p.R134R NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 134 DUF6 1. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) AAGAACCTTTGCGAACAGTGG 0.602 64 131 --- --- --- --- PASS SYNRG 11276 broad.mit.edu 37 17 35921351 35921351 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:35921351C>A uc002hoa.2 - 13 1692 c.1609G>T c.(1609-1611)GAT>TAT p.D537Y SYNRG_uc010wde.1_Missense_Mutation_p.D459Y|SYNRG_uc010wdf.1_Missense_Mutation_p.D459Y|SYNRG_uc002hoc.2_Missense_Mutation_p.D458Y|SYNRG_uc002hoe.2_Missense_Mutation_p.D459Y|SYNRG_uc002hod.2_Missense_Mutation_p.D459Y|SYNRG_uc010wdg.1_Missense_Mutation_p.D376Y|SYNRG_uc002hob.2_Missense_Mutation_p.D537Y|SYNRG_uc002hof.2_Missense_Mutation_p.D249Y|SYNRG_uc010cvd.1_Missense_Mutation_p.D337Y NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 537 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 CTATATTTATCACCAGGATCT 0.353 21 53 --- --- --- --- PASS KRT17 3872 broad.mit.edu 37 17 39775851 39775851 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:39775851G>A uc002hxh.2 - 8 1415 c.1294C>T c.(1294-1296)CGC>TGC p.R432C JUP_uc010wfs.1_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 432 Tail. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) AGTCCTCAGCGGGTGGTCTGG 0.677 Steatocystoma_Multiplex 16 139 --- --- --- --- PASS WFIKKN2 124857 broad.mit.edu 37 17 48917355 48917355 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:48917355C>T uc002isv.3 + 2 1400 c.706C>T c.(706-708)CGG>TGG p.R236W WFIKKN2_uc010dbu.2_Missense_Mutation_p.R143W NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 236 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TGTGGTGGGCCGGCCCCGGCC 0.622 11 63 --- --- --- --- PASS MRC2 9902 broad.mit.edu 37 17 60743550 60743550 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:60743550C>T uc002jad.2 + 3 1018 c.616C>T c.(616-618)CGC>TGC p.R206C MRC2_uc002jac.2_Missense_Mutation_p.R206C NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 206 Extracellular (Potential).|Fibronectin type-II. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 CAGCACGGGCCGCGAGGATGG 0.607 7 9 --- --- --- --- PASS KIF19 124602 broad.mit.edu 37 17 72346634 72346634 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:72346634G>T uc002jkm.3 + 11 1446 c.1308G>T c.(1306-1308)GTG>GTT p.V436V KIF19_uc002jkj.2_Silent_p.V436V|KIF19_uc002jkk.2_Silent_p.V394V|KIF19_uc002jkl.2_Silent_p.V394V NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 436 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 AGATGGATGTGCGGAGGCGCC 0.672 13 15 --- --- --- --- PASS BTBD17 388419 broad.mit.edu 37 17 72356212 72356212 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:72356212C>T uc002jkn.2 - 2 258 c.258G>A c.(256-258)CTG>CTA p.L86L NM_001080466 NP_001073935 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 precursor 86 BTB. extracellular region 0 GCAGTCCCAGCAGCAGGCGGT 0.647 11 51 --- --- --- --- PASS UBE2O 63893 broad.mit.edu 37 17 74448907 74448907 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:74448907C>A uc002jrm.3 - 1 382 c.317G>T c.(316-318)GGC>GTC p.G106V UBE2O_uc002jrn.3_Missense_Mutation_p.G106V NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 106 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 GTGGCCCGCGCCCCCGGCCTC 0.741 3 4 --- --- --- --- PASS CYTH1 9267 broad.mit.edu 37 17 76694409 76694409 + Silent SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:76694409C>A uc002jvw.2 - 9 824 c.753G>T c.(751-753)GGG>GGT p.G251G CYTH1_uc010wtw.1_Silent_p.G192G|CYTH1_uc010wtx.1_Silent_p.G192G NM_017456 NP_059430 Q15438 CYH1_HUMAN cytohesin 1 isoform 2 251 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TGAGGTCATTCCCGTCGTCTT 0.413 56 116 --- --- --- --- PASS FASN 2194 broad.mit.edu 37 17 80037473 80037473 + Silent SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr17:80037473C>T uc002kdu.2 - 42 7275 c.7158G>A c.(7156-7158)GCG>GCA p.A2386A FASN_uc002kdv.1_RNA NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 2386 Thioesterase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GCGGCAGCAGCGCCTCCAGCA 0.647 13 25 --- --- --- --- PASS DSG1 1828 broad.mit.edu 37 18 28934436 28934436 + Silent SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr18:28934436A>T uc002kwp.2 + 15 2489 c.2277A>T c.(2275-2277)GCA>GCT p.A759A DSG1_uc010xbp.1_Silent_p.A118A NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 759 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGAAGTTGGCAGACATCAGCC 0.488 29 165 --- --- --- --- PASS DSG4 147409 broad.mit.edu 37 18 28980857 28980857 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr18:28980857C>T uc002kwq.2 + 10 1426 c.1291C>T c.(1291-1293)CAT>TAT p.H431Y DSG4_uc002kwr.2_Missense_Mutation_p.H431Y NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 431 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TATCATAGGGCATGATGCAGG 0.289 13 84 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31226214 31226214 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr18:31226214G>A uc010dmg.1 + 4 307 c.252G>A c.(250-252)GAG>GAA p.E84E ASXL3_uc002kxq.2_5'UTR NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TACAGAAAGAGGAGTCGTCAT 0.383 24 76 --- --- --- --- PASS KATNAL2 83473 broad.mit.edu 37 18 44580782 44580782 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr18:44580782C>T uc002lco.2 + 3 283 c.89C>T c.(88-90)CCG>CTG p.P30L KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 102 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 AATAATTTACCGCAAAGAAGT 0.388 56 213 --- --- --- --- PASS HMSD 284293 broad.mit.edu 37 18 61627505 61627505 + Silent SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr18:61627505T>C uc010dqj.2 + 4 485 c.336T>C c.(334-336)ACT>ACC p.T112T SERPINB8_uc002ljs.1_5'UTR NM_001123366 NP_001116838 A8MTL9 HMSD_HUMAN histocompatibility (minor) serpin domain 112 extracellular region serine-type endopeptidase inhibitor activity 0 CTGATAAAACTAAAGGTGAAA 0.318 8 31 --- --- --- --- PASS CBLN2 147381 broad.mit.edu 37 18 70205524 70205524 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr18:70205524C>A uc002lku.2 - 4 797 c.562G>T c.(562-564)GTG>TTG p.V188L CBLN2_uc002lkv.2_Missense_Mutation_p.V188L NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 188 C1q. integral to membrane 0 Esophageal squamous(42;0.131) AGCAGCAGCACGCCATTGCTA 0.507 37 119 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76754091 76754091 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr18:76754091G>T uc002lmt.2 + 2 2100 c.2100G>T c.(2098-2100)ACG>ACT p.T700T SALL3_uc010dra.2_Silent_p.T307T NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 700 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ACTACCGGACGCACACGGGGG 0.632 5 38 --- --- --- --- PASS REXO1 57455 broad.mit.edu 37 19 1820350 1820350 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:1820350G>A uc002lua.3 - 6 2534 c.2439C>T c.(2437-2439)GTC>GTT p.V813V REXO1_uc010dsq.2_Silent_p.V122V|REXO1_uc010xgs.1_5'UTR|REXO1_uc010dsp.1_5'Flank|uc002lub.1_5'Flank NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 813 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|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) TGACGGTGGGGACTTTGCCCC 0.552 34 82 --- --- --- --- PASS MATK 4145 broad.mit.edu 37 19 3778348 3778348 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:3778348C>G uc002lyt.2 - 14 1757 c.1357G>C c.(1357-1359)GTG>CTG p.V453L MATK_uc002lyv.2_Missense_Mutation_p.V454L|MATK_uc002lyu.2_Missense_Mutation_p.V412L|MATK_uc010dtq.2_Missense_Mutation_p.V452L NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 453 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) AGGACGTGCACGGGGCCTGGA 0.697 9 47 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9065628 9065628 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:9065628C>G uc002mkp.2 - 3 22022 c.21818G>C c.(21817-21819)GGT>GCT p.G7273A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7275 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 AGTAGTAGCACCAATGGACAC 0.488 36 102 --- --- --- --- PASS ZNF563 147837 broad.mit.edu 37 19 12433494 12433494 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:12433494T>C uc002mtp.2 - 2 273 c.35A>G c.(34-36)AAC>AGC p.N12S ZNF563_uc002mtq.2_Missense_Mutation_p.N12S NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 12 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTGGGTGAAGTTCACAGCCAC 0.438 4 103 --- --- --- --- PASS SYCE2 256126 broad.mit.edu 37 19 13029085 13029085 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:13029085G>T uc002mvr.2 - 2 97 c.82C>A c.(82-84)CCG>ACG p.P28T NM_001105578 NP_001099048 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 28 cell division central element 0 TCCCACCGCGGATGCTCCTTG 0.627 25 58 --- --- --- --- PASS ARMC6 93436 broad.mit.edu 37 19 19162527 19162527 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:19162527G>T uc002nld.2 + 5 724 c.376G>T c.(376-378)GCC>TCC p.A126S ARMC6_uc002nlc.2_Missense_Mutation_p.A101S|ARMC6_uc010xql.1_Missense_Mutation_p.A33S|ARMC6_uc002nle.2_Missense_Mutation_p.A101S|ARMC6_uc010xqm.1_Missense_Mutation_p.A126S NM_033415 NP_219483 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 126 protein binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) ACAGGACAAGGCCTGCCGCTT 0.637 26 69 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22155968 22155968 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:22155968G>T uc002nqp.2 - 5 1717 c.1568C>A c.(1567-1569)ACC>AAC p.T523N ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGTAGTAAGGGTTGAGACCTT 0.363 15 87 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22364110 22364110 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:22364110C>G uc002nqs.1 - 3 727 c.409G>C c.(409-411)GGA>CGA p.G137R NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CCTTTCTCTCCAGTATGCCTT 0.323 21 134 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22939855 22939855 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:22939855T>C uc010xrh.1 - 6 2476 c.2476A>G c.(2476-2478)AGG>GGG p.R826G NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GATTTCTCCCTAGTATGAATT 0.373 33 144 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039105 31039105 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:31039105C>T uc002nsu.1 + 4 2717 c.2579C>T c.(2578-2580)ACA>ATA p.T860I ZNF536_uc010edd.1_Missense_Mutation_p.T860I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 860 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CAGCAGTGGACATCAGGGGTT 0.577 25 104 --- --- --- --- PASS USF2 7392 broad.mit.edu 37 19 35761435 35761435 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:35761435C>A uc002nyq.1 + 5 624 c.515C>A c.(514-516)GCG>GAG p.A172E USF2_uc010xss.1_Missense_Mutation_p.A172E|USF2_uc002nyr.1_Missense_Mutation_p.A105E|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 172 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TATTTCCCAGCGTCCAGTGTG 0.597 28 63 --- --- --- --- PASS USF2 7392 broad.mit.edu 37 19 35761436 35761436 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:35761436G>T uc002nyq.1 + 5 625 c.516G>T c.(514-516)GCG>GCT p.A172A USF2_uc010xss.1_Silent_p.A172A|USF2_uc002nyr.1_Silent_p.A105A|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 172 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) ATTTCCCAGCGTCCAGTGTGG 0.597 27 62 --- --- --- --- PASS APLP1 333 broad.mit.edu 37 19 36367439 36367439 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:36367439G>T uc002oce.2 + 11 1503 c.1365G>T c.(1363-1365)GTG>GTT p.V455V APLP1_uc010xsz.1_Silent_p.V416V|APLP1_uc002ocf.2_Silent_p.V455V|APLP1_uc002ocg.2_Silent_p.V358V|APLP1_uc010xta.1_Silent_p.V449V NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 455 Extracellular (Potential).|Collagen-binding (By similarity). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACCTTCAAGTGATTGAGGAGA 0.552 18 62 --- --- --- --- PASS SIPA1L3 23094 broad.mit.edu 37 19 38610204 38610204 + Silent SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:38610204C>G uc002ohk.2 + 9 3059 c.2550C>G c.(2548-2550)ACC>ACG p.T850T NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 850 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCTCCCTGACCTCCAAGAAGA 0.612 11 39 --- --- --- --- PASS ITPKC 80271 broad.mit.edu 37 19 41235273 41235273 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:41235273G>T uc002oot.2 + 3 1455 c.1422G>T c.(1420-1422)CTG>CTT p.L474L NM_025194 NP_079470 Q96DU7 IP3KC_HUMAN inositol 1,4,5-trisphosphate 3-kinase C 474 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AAGACCTCCTGGCTGACTTTG 0.612 8 33 --- --- --- --- PASS B3GNT8 374907 broad.mit.edu 37 19 41932672 41932672 + Silent SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:41932672G>A uc002oqs.2 - 3 466 c.12C>T c.(10-12)CCC>CCT p.P4P CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron NM_198540 NP_940942 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal 4 Cytoplasmic (Potential). poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity 0 GAAGGCACTTGGGGCAGCGCA 0.672 8 59 --- --- --- --- PASS CEACAM4 1089 broad.mit.edu 37 19 42132287 42132287 + Missense_Mutation SNP T C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:42132287T>C uc002orh.1 - 2 223 c.112A>G c.(112-114)ATT>GTT p.I38V CEACAM4_uc010xwd.1_Missense_Mutation_p.I38V NM_001817 NP_001808 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion 38 Extracellular (Potential).|Ig-like V-type. integral to plasma membrane|membrane fraction 0 AGGGCTTCAATAGTGAACTGG 0.498 39 105 --- --- --- --- PASS ZNF574 64763 broad.mit.edu 37 19 42583419 42583419 + Nonsense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:42583419C>T uc002osm.3 + 2 830 c.661C>T c.(661-663)CAG>TAG p.Q221* ZNF574_uc002osk.3_Nonsense_Mutation_p.Q311* NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 221 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) TGAGTGCTCCCAGCTCTTCCA 0.622 34 100 --- --- --- --- PASS LIPE 3991 broad.mit.edu 37 19 42910529 42910529 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:42910529C>G uc002otr.2 - 7 2426 c.2149G>C c.(2149-2151)GAA>CAA p.E717Q uc010eif.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 717 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) CAGATTCGTTCCCCTGTTGAG 0.642 13 36 --- --- --- --- PASS EML2 24139 broad.mit.edu 37 19 46136217 46136217 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:46136217G>A uc002pcn.2 - 6 447 c.412C>T c.(412-414)CAC>TAC p.H138Y EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.H22Y|EML2_uc010xxl.1_Missense_Mutation_p.H285Y|EML2_uc010xxm.1_Missense_Mutation_p.H339Y|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.H138Y|EML2_uc010ekj.2_Missense_Mutation_p.H138Y|EML2_uc010ekk.1_5'Flank NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 138 WD 1. sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) ATGCGCACGTGGGGCGGCAGC 0.567 14 50 --- --- --- --- PASS PRR12 57479 broad.mit.edu 37 19 50099655 50099655 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:50099655A>G uc002poo.3 + 4 2063 c.2063A>G c.(2062-2064)TAC>TGC p.Y688C NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGTACACCCTACGAGTTGGCC 0.682 6 19 --- --- --- --- PASS SIGLEC7 27036 broad.mit.edu 37 19 51647760 51647760 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:51647760G>T uc002pvv.1 + 2 600 c.531G>T c.(529-531)GGG>GGT p.G177G SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 isoform 1 177 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to plasma membrane receptor activity|sugar binding large_intestine(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) GTGAGCAGGGGACGCCCCCTA 0.647 33 142 --- --- --- --- PASS CD33 945 broad.mit.edu 37 19 51728798 51728798 + Missense_Mutation SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:51728798A>G uc002pwa.2 + 2 402 c.362A>G c.(361-363)GAG>GGG p.E121G CD33_uc010eos.1_Missense_Mutation_p.E121G|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 121 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TTTCGGATGGAGAGAGGAAGT 0.532 23 89 --- --- --- --- PASS ZNF766 90321 broad.mit.edu 37 19 52793634 52793634 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:52793634G>T uc002pyr.1 + 4 633 c.590G>T c.(589-591)AGA>ATA p.R197I ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Missense_Mutation_p.R212I NM_001010851 NP_001010851 Q5HY98 ZN766_HUMAN zinc finger protein 766 197 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) AAAGTCTTCAGAGTGTCTTCA 0.413 20 152 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54313082 54313082 + Missense_Mutation SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:54313082A>T uc002qch.3 - 3 2051 c.1831T>A c.(1831-1833)TTG>ATG p.L611M NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.L611M|NLRP12_uc002qcj.3_Missense_Mutation_p.L611M|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.L611M NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 611 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AAGAACTCCAAGGAGCCCTGC 0.567 35 82 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54313593 54313593 + Silent SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:54313593C>A uc002qch.3 - 3 1540 c.1320G>T c.(1318-1320)CTG>CTT p.L440L NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.L440L|NLRP12_uc002qcj.3_Silent_p.L440L|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.L440L NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 440 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCATCAGACTCAGCAGGTAGA 0.632 26 145 --- --- --- --- PASS LILRB3 11025 broad.mit.edu 37 19 54722671 54722671 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:54722671G>T uc002qef.1 - 9 1574 c.1463C>A c.(1462-1464)GCT>GAT p.A488D LILRB3_uc002qee.1_Missense_Mutation_p.A488D|LILRB3_uc002qeh.1_Missense_Mutation_p.A488D|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.A488D|LILRA6_uc002qek.1_Missense_Mutation_p.A488D|LILRB3_uc010erh.1_Missense_Mutation_p.A505D|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.A488D|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.A488D|LILRB3_uc002qep.1_Missense_Mutation_p.A488D|LILRB3_uc002qeq.1_Missense_Mutation_p.A488D|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.A488D NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 488 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTCTCCGCAGCCCCTGCAGG 0.567 29 83 --- --- --- --- PASS LILRB5 10990 broad.mit.edu 37 19 54758731 54758731 + Silent SNP A G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:54758731A>G uc002qex.2 - 6 1233 c.1122T>C c.(1120-1122)TAT>TAC p.Y374Y LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.Y365Y|LILRB5_uc002qey.2_Silent_p.Y374Y|LILRB5_uc002qez.2_Silent_p.Y274Y|LILRB5_uc002qfa.1_Silent_p.Y264Y|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 374 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCTGGTGTCTATAAGACTGGT 0.537 22 72 --- --- --- --- PASS GP6 51206 broad.mit.edu 37 19 55530042 55530042 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:55530042G>C uc002qik.2 - 6 730 c.702C>G c.(700-702)TTC>TTG p.F234L GP6_uc002qil.2_Missense_Mutation_p.F234L|GP6_uc010esq.2_Missense_Mutation_p.F216L NM_016363 NP_057447 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) isoform 2 234 Extracellular (Potential). enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) CTTCGTTTGTGAATGAGACGG 0.458 58 128 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56419214 56419214 + Silent SNP A T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:56419214A>T uc010ygg.1 - 7 2416 c.2391T>A c.(2389-2391)ACT>ACA p.T797T NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 797 LRR 2. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TCAGGGGGACAGTCATTCCCA 0.498 58 133 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56424444 56424444 + Nonsense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:56424444G>A uc010ygg.1 - 5 764 c.739C>T c.(739-741)CAG>TAG p.Q247* NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 247 NACHT. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGCATAGCCTGCATTGCCAAG 0.507 45 141 --- --- --- --- PASS ZNF71 58491 broad.mit.edu 37 19 57133934 57133934 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr19:57133934G>A uc002qnm.3 + 3 1517 c.1279G>A c.(1279-1281)GAG>AAG p.E427K NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 427 C2H2-type 11. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CTACCTCATCGAGCACCAGCG 0.642 26 43 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961208 1961208 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:1961208C>A uc010gaj.2 - 3 768 c.526G>T c.(526-528)GGG>TGG p.G176W uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G176W|PDYN_uc010zpt.1_Missense_Mutation_p.G21W NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 176 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 AAAAAGCCCCCATAGCGTTTG 0.592 28 86 --- --- --- --- PASS NKX2-2 4821 broad.mit.edu 37 20 21492742 21492742 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:21492742G>T uc002wsi.2 - 2 998 c.641C>A c.(640-642)CCA>CAA p.P214Q NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 214 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 CGCGTGACATGGTTTGCCGTC 0.662 10 57 --- --- --- --- PASS CST1 1469 broad.mit.edu 37 20 23728519 23728519 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:23728519G>C uc002wtp.2 - 3 431 c.360C>G c.(358-360)TTC>TTG p.F120L NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 120 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) CGTAGATCTCGAAAGAGCACA 0.527 14 47 --- --- --- --- PASS CST1 1469 broad.mit.edu 37 20 23731327 23731327 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:23731327G>T uc002wtp.2 - 1 248 c.177C>A c.(175-177)ACC>ACA p.T59T NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 59 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) AGTCATCTTTGGTGGCCTTGT 0.557 26 119 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31671440 31671440 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:31671440G>T uc010zue.1 + 3 452 c.437G>T c.(436-438)AGG>ATG p.R146M NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 146 Gly-rich. cytoplasm|extracellular region lipid binding 0 CCTGTGGGCAGGCTTCACCGG 0.642 45 79 --- --- --- --- PASS SEMG1 6406 broad.mit.edu 37 20 43836508 43836508 + Silent SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:43836508C>A uc002xni.2 + 2 627 c.570C>A c.(568-570)TCC>TCA p.S190S SEMG1_uc002xnj.2_Silent_p.S190S|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.S190S NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 190 42 AA repeat 1. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) AAGGCGGATCCCAAAGCAGTT 0.393 35 52 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44664042 44664042 + Splice_Site SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:44664042G>A uc010zxl.1 + 3 293 c.217_splice c.e3-1 p.E73_splice SLC12A5_uc002xra.2_Splice_Site_p.E50_splice|SLC12A5_uc010zxm.1_Splice_Site|SLC12A5_uc002xrb.2_Splice_Site_p.E50_splice NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCCCTCCATAGGAGGAGATGG 0.592 93 191 --- --- --- --- PASS NFATC2 4773 broad.mit.edu 37 20 50140386 50140386 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:50140386C>T uc002xwd.2 - 2 614 c.394G>A c.(394-396)GAC>AAC p.D132N NFATC2_uc002xwc.2_Missense_Mutation_p.D132N|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Missense_Mutation_p.D112N|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Missense_Mutation_p.D112N NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 132 Trans-activation domain A (TAD-A). B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) AGGCCCGCGTCTCTCATGCGG 0.736 15 50 --- --- --- --- PASS VAPB 9217 broad.mit.edu 37 20 57019265 57019265 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:57019265G>T uc002xza.2 + 6 977 c.706G>T c.(706-708)GTA>TTA p.V236L VAPB_uc002xzb.2_RNA|VAPB_uc010zzo.1_Missense_Mutation_p.V113L|VAPB_uc002xzc.2_3'UTR NM_004738 NP_004729 O95292 VAPB_HUMAN VAMP-associated protein B/C 236 Helical; Anchor for type IV membrane protein; (Potential). cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(1) 1 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) TATCGTTGGTGTAATTATTGG 0.453 70 277 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58415482 58415482 + Missense_Mutation SNP A C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:58415482A>C uc002yau.2 + 10 1910 c.1443A>C c.(1441-1443)AGA>AGC p.R481S PHACTR3_uc002yat.2_Missense_Mutation_p.R478S|PHACTR3_uc010zzw.1_Missense_Mutation_p.R440S|PHACTR3_uc002yav.2_Missense_Mutation_p.R440S|PHACTR3_uc002yaw.2_Missense_Mutation_p.R440S|PHACTR3_uc002yax.2_Missense_Mutation_p.R370S|PHACTR3_uc002yay.2_Missense_Mutation_p.R50S NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 481 Required for PP1CA binding and inhibition of PP1 activity.|Potential.|RPEL 4. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GATTGACAAGAAAGGTAGTAT 0.363 5 77 --- --- --- --- PASS HRH3 11255 broad.mit.edu 37 20 60791306 60791306 + Missense_Mutation SNP C T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:60791306C>T uc002ycf.2 - 3 1391 c.1094G>A c.(1093-1095)AGC>AAC p.S365N HRH3_uc002ycg.2_Missense_Mutation_p.S285N|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Missense_Mutation_p.S365N NM_007232 NP_009163 Q9Y5N1 HRH3_HUMAN histamine receptor H3 365 Helical; Name=6; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) CCCAAAGATGCTCACGATGAC 0.607 26 46 --- --- --- --- PASS STMN3 50861 broad.mit.edu 37 20 62275622 62275622 + Silent SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr20:62275622G>T uc002yfr.1 - 2 142 c.60C>A c.(58-60)CTC>CTA p.L20L STMN3_uc011abb.1_Silent_p.L20L NM_015894 NP_056978 Q9NZ72 STMN3_HUMAN SCG10-like-protein 20 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding 0 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) AGGAGCAGATGAGCGACAGCA 0.652 13 35 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17072690 17072690 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr22:17072690C>A uc002zlp.1 - 1 1011 c.751G>T c.(751-753)GCC>TCC p.A251S NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 251 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TTTGGATGGGCAGGACCAAAG 0.517 19 101 --- --- --- --- PASS RTDR1 27156 broad.mit.edu 37 22 23482493 23482493 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr22:23482493C>A uc002zwt.2 - 2 273 c.115G>T c.(115-117)GAC>TAC p.D39Y RTDR1_uc010gtv.1_Missense_Mutation_p.D39Y NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 39 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) GTCTGGAGGTCCTCTGACTGC 0.557 4 55 --- --- --- --- PASS ADRBK2 157 broad.mit.edu 37 22 26118334 26118334 + Missense_Mutation SNP C G G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr22:26118334C>G uc003abx.3 + 21 2131 c.1984C>G c.(1984-1986)CCG>GCG p.P662A ADRBK2_uc003aby.3_RNA NM_005160 NP_005151 P35626 ARBK2_HUMAN beta-adrenergic receptor kinase 2 662 ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity lung(3)|ovary(2)|stomach(1)|central_nervous_system(1) 7 Adenosine triphosphate(DB00171) GCGTCGTGCCCCGAAGTTCCT 0.542 26 71 --- --- --- --- PASS SLC25A17 10478 broad.mit.edu 37 22 41195076 41195076 + Silent SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chr22:41195076T>A uc003azc.2 - 2 206 c.66A>T c.(64-66)ACA>ACT p.T22T SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_5'UTR|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Silent_p.T22T NM_006358 NP_006349 O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; 22 Solcar 1.|Helical; Name=1; (Potential). fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding 0 CTGTCATTGCTGTCACGCTTC 0.328 16 27 --- --- --- --- PASS PPEF1 5475 broad.mit.edu 37 X 18797254 18797254 + Missense_Mutation SNP T A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:18797254T>A uc004cyq.2 + 10 1166 c.685T>A c.(685-687)TTG>ATG p.L229M PPEF1_uc004cyp.2_Missense_Mutation_p.L229M|PPEF1_uc004cyr.2_Missense_Mutation_p.L229M|PPEF1_uc004cys.2_Missense_Mutation_p.L229M|PPEF1_uc011mja.1_Missense_Mutation_p.L164M|PPEF1_uc011mjb.1_Missense_Mutation_p.L173M NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 229 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) TGACCTGCACTTGAACAGAGG 0.398 46 50 --- --- --- --- PASS RPS6KA3 6197 broad.mit.edu 37 X 20195156 20195156 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:20195156G>A uc004czu.2 - 11 892 c.892C>T c.(892-894)CTT>TTT p.L298F RPS6KA3_uc011mjk.1_Missense_Mutation_p.L269F|RPS6KA3_uc004czv.2_Missense_Mutation_p.L286F|RPS6KA3_uc011mjl.1_Missense_Mutation_p.L270F|RPS6KA3_uc011mjm.1_Missense_Mutation_p.L270F NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 298 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 ATTCGTAAAAGACTCTGCGCT 0.318 32 49 --- --- --- --- PASS PTCHD1 139411 broad.mit.edu 37 X 23411778 23411778 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:23411778G>A uc004dal.3 + 3 2151 c.2143G>A c.(2143-2145)GCA>ACA p.A715T NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 715 Helical; (Potential). cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 CTTCTTCTCGGCATTCCTGGT 0.483 4 72 --- --- --- --- PASS SLC35A2 7355 broad.mit.edu 37 X 48762630 48762630 + Missense_Mutation SNP G C C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:48762630G>C uc004dlo.1 - 4 560 c.556C>G c.(556-558)CAA>GAA p.Q186E SLC35A2_uc011mml.1_Missense_Mutation_p.Q199E|SLC35A2_uc004dlp.1_Missense_Mutation_p.Q186E|SLC35A2_uc011mmm.1_Missense_Mutation_p.Q214E|SLC35A2_uc011mmn.1_Missense_Mutation_p.Q125E|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron NM_005660 NP_005651 P78381 S35A2_HUMAN solute carrier family 35, member A2 isoform a 186 Helical; (Potential). galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1) 1 CCACCGGCTTGCTGTGCCTGG 0.662 6 4 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54783662 54783662 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:54783662C>A uc004dtj.2 - 8 2875 c.2845G>T c.(2845-2847)GGT>TGT p.G949C NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 949 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CTCTGGGGACCCGGGAGGAGG 0.592 9 18 --- --- --- --- PASS ACRC 93953 broad.mit.edu 37 X 70823780 70823780 + Missense_Mutation SNP A G G rs138572604 byFrequency TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:70823780A>G uc004eae.2 + 8 1154 c.653A>G c.(652-654)AAG>AGG p.K218R BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 218 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) CCCGACGACAAGAGTGATGAT 0.507 34 170 --- --- --- --- PASS ACRC 93953 broad.mit.edu 37 X 70823781 70823781 + Missense_Mutation SNP G C C rs141229655 byFrequency TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:70823781G>C uc004eae.2 + 8 1155 c.654G>C c.(652-654)AAG>AAC p.K218N BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 218 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) CCGACGACAAGAGTGATGATT 0.502 42 160 --- --- --- --- PASS P2RY10 27334 broad.mit.edu 37 X 78216168 78216168 + Missense_Mutation SNP G T T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:78216168G>T uc004ede.2 + 4 520 c.151G>T c.(151-153)GCT>TCT p.A51S P2RY10_uc004edf.2_Missense_Mutation_p.A51S NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 51 Helical; Name=1; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 TGGTCTTCTGGCTAACAGTGC 0.428 30 57 --- --- --- --- PASS DACH2 117154 broad.mit.edu 37 X 85631865 85631865 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:85631865G>A uc004eew.2 + 2 697 c.527G>A c.(526-528)AGT>AAT p.S176N DACH2_uc004eex.2_Intron|DACH2_uc010nmq.2_Intron|DACH2_uc011mra.1_Missense_Mutation_p.S9N|DACH2_uc010nmr.2_Intron NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 gctgttaacaggtatttatgt 0.109 4 4 --- --- --- --- PASS MAGEC3 139081 broad.mit.edu 37 X 140926178 140926178 + Missense_Mutation SNP G A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:140926178G>A uc011mwp.1 + 1 77 c.77G>A c.(76-78)TGT>TAT p.C26Y NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 26 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AAAAACACATGTGCCACATAT 0.557 29 36 --- --- --- --- PASS SLITRK2 84631 broad.mit.edu 37 X 144904178 144904178 + Missense_Mutation SNP C A A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 87e71949-5bd9-458c-95f7-4b19882c2b4f 7fef8d17-057d-4bd4-821c-099460f6484b g.chrX:144904178C>A uc004fcd.2 + 5 1225 c.235C>A c.(235-237)CCA>ACA p.P79T SLITRK2_uc010nsp.2_Missense_Mutation_p.P79T|SLITRK2_uc010nso.2_Missense_Mutation_p.P79T|SLITRK2_uc011mwq.1_Missense_Mutation_p.P79T|SLITRK2_uc011mwr.1_Missense_Mutation_p.P79T|SLITRK2_uc011mws.1_Missense_Mutation_p.P79T|SLITRK2_uc004fcg.2_Missense_Mutation_p.P79T|SLITRK2_uc011mwt.1_Missense_Mutation_p.P79T NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 79 Extracellular (Potential).|LRR 1. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AAGACTGTATCCAAACGAATT 0.468 18 51 --- --- --- --- PASS