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 CPSF3L 54973 broad.mit.edu 37 1 1254740 1254740 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:1254740G>C uc001aee.1 - 4 423 c.365C>G c.(364-366)ACC>AGC p.T122S CPSF3L_uc009vjy.1_5'Flank|CPSF3L_uc001aef.1_Missense_Mutation_p.T128S|CPSF3L_uc009vjz.1_Missense_Mutation_p.T122S|CPSF3L_uc010nyj.1_Missense_Mutation_p.T93S|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Intron|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aej.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001aem.1_Missense_Mutation_p.T122S|CPSF3L_uc001ael.1_Missense_Mutation_p.T40S|CPSF3L_uc001aen.1_3'UTR NM_017871 NP_060341 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 122 Golgi apparatus|nucleus hydrolase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) CATCTGGGAGGTGAAGAAGTT 0.587 TAS1R3 83756 broad.mit.edu 37 1 1268097 1268097 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:1268097G>A uc010nyk.1 + 3 1186 c.1186G>A c.(1186-1188)GCT>ACT p.A396T NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 396 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TGTCTACGCAGCTGTGTATAG 0.652 CCNL2 81669 broad.mit.edu 37 1 1322784 1322784 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:1322784G>A uc001afi.2 - 11 1422 c.1390C>T c.(1390-1392)CGG>TGG p.R464W CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.R242W|CCNL2_uc001afg.1_Missense_Mutation_p.R242W|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR NM_030937 NP_112199 Q96S94 CCNL2_HUMAN cyclin L2 isoform A 464 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GAAGAACTCCGGCTCCGAGAC 0.577 KIAA1751 85452 broad.mit.edu 37 1 1916826 1916826 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:1916826C>T uc001aim.1 - 6 655 c.499G>A c.(499-501)GAG>AAG p.E167K KIAA1751_uc009vkz.1_Missense_Mutation_p.E167K|KIAA1751_uc001ain.1_Missense_Mutation_p.E167K NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 167 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CCGACTCACTCGCTCTCCTTC 0.647 EXOSC10 5394 broad.mit.edu 37 1 11140856 11140856 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:11140856C>A uc001asa.2 - 12 1601 c.1551G>T c.(1549-1551)AGG>AGT p.R517S EXOSC10_uc001asb.2_Missense_Mutation_p.R517S|EXOSC10_uc009vmy.1_Missense_Mutation_p.R517S NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN exosome component 10 isoform 1 517 HRDC. CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding upper_aerodigestive_tract(1) 1 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) CTGTTTTATCCCTCCAGGCAA 0.428 SPEN 23013 broad.mit.edu 37 1 16257086 16257086 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:16257086G>A uc001axk.1 + 11 4555 c.4351G>A c.(4351-4353)GCT>ACT p.A1451T SPEN_uc010obp.1_Missense_Mutation_p.A1410T NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1451 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCTTGAAAGAGCTAAATCCCT 0.363 UBR4 23352 broad.mit.edu 37 1 19439224 19439224 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:19439224G>A uc001bbi.2 - 78 11599 c.11595C>T c.(11593-11595)GGC>GGT p.G3865G UBR4_uc001bbj.1_3'UTR NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3865 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGGATGTGTGGCCACAGCCCA 0.592 PLA2G2E 30814 broad.mit.edu 37 1 20249189 20249189 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:20249189T>G uc001bct.1 - 2 158 c.100A>C c.(100-102)AAG>CAG p.K34Q NM_014589 NP_055404 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE precursor 34 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGGGCGGACTTGCCTGTCATC 0.532 NBPF3 84224 broad.mit.edu 37 1 21800060 21800060 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:21800060G>A uc001ber.2 + 7 1272 c.922G>A c.(922-924)GCT>ACT p.A308T NBPF3_uc001bes.2_Missense_Mutation_p.A252T|NBPF3_uc009vqb.2_Missense_Mutation_p.A308T|NBPF3_uc010odm.1_Missense_Mutation_p.A238T NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 308 NBPF 1. cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ATGGTTGGATGCTGTATGCAT 0.443 HSPG2 3339 broad.mit.edu 37 1 22216485 22216485 + Missense_Mutation SNP C C T rs145847147 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:22216485C>T uc001bfj.2 - 6 603 c.563G>A c.(562-564)CGC>CAC p.R188H HSPG2_uc009vqd.2_Missense_Mutation_p.R188H|HSPG2_uc009vqe.1_Missense_Mutation_p.A87T NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 188 SEA. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGTGCCCAGGCGTCGGAACTG 0.473 PAQR7 164091 broad.mit.edu 37 1 26189365 26189365 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:26189365C>T uc001bkx.2 - 2 1633 c.966G>A c.(964-966)ACG>ACA p.T322T NM_178422 NP_848509 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 322 Helical; Name=7; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3) 3 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) TGCTGCCCACCGTGAGCAGGA 0.587 ARID1A 8289 broad.mit.edu 37 1 27099914 27099914 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:27099914G>A uc001bmv.1 + 15 4166 c.3793G>A c.(3793-3795)GGC>AGC p.G1265S ARID1A_uc001bmt.1_Missense_Mutation_p.G1264S|ARID1A_uc001bmu.1_Missense_Mutation_p.G1265S|ARID1A_uc001bmw.1_Missense_Mutation_p.G882S|ARID1A_uc001bmx.1_Missense_Mutation_p.G111S|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1265 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCGTGCTGCCGGCCCTGGGCT 0.607 Mis|N|F|S|D clear cell ovarian carcinoma|RCC ZDHHC18 84243 broad.mit.edu 37 1 27180234 27180234 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:27180234G>T uc001bnb.2 + 8 1162 c.1067G>T c.(1066-1068)GGA>GTA p.G356V NM_032283 NP_115659 Q9NUE0 ZDH18_HUMAN zinc finger, DHHC-type containing 18 356 integral to membrane zinc ion binding 0 all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237) GACCGGAGGGGATTTGTGCAG 0.587 OREG0013274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DNAJC8 22826 broad.mit.edu 37 1 28537141 28537141 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:28537141A>G uc001bpn.2 - 4 278 c.245T>C c.(244-246)ATC>ACC p.I82T DNAJC8_uc001bpo.2_RNA NM_014280 NP_055095 O75937 DNJC8_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 8 82 J. nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) ATGCACCAAGATGGATAACTA 0.388 HDAC1 3065 broad.mit.edu 37 1 32792620 32792620 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:32792620G>A uc001bvb.1 + 5 499 c.436G>A c.(436-438)GAG>AAG p.E146K HDAC1_uc010ohd.1_Missense_Mutation_p.E146K|HDAC1_uc010ohe.1_Missense_Mutation_p.E83K|HDAC1_uc010ohf.1_Missense_Mutation_p.E117K|HDAC1_uc001bvc.1_5'Flank NM_004964 NP_004955 Q13547 HDAC1_HUMAN histone deacetylase 1 146 Histone deacetylase. anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1) 3 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) AAAGAAGTCCGAGGCATCTGG 0.512 CSMD2 114784 broad.mit.edu 37 1 34383709 34383709 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:34383709T>G uc001bxn.1 - 5 815 c.786A>C c.(784-786)GAA>GAC p.E262D CSMD2_uc001bxm.1_Missense_Mutation_p.E302D NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 262 CUB 2.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGGAGGAGCCTTCTGTCCCAG 0.532 GJB3 2707 broad.mit.edu 37 1 35250931 35250931 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:35250931T>A uc001bxx.2 + 2 1183 c.568T>A c.(568-570)TTC>ATC p.F190I GJB3_uc001bxy.2_Missense_Mutation_p.F190I|GJB3_uc001bxz.3_Missense_Mutation_p.F190I|uc010ohs.1_RNA NM_024009 NP_076872 O75712 CXB3_HUMAN connexin 31 190 Helical; (Potential). cell communication connexon complex|integral to membrane gap junction channel activity 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CTTCACCTACTTCATGGTGGG 0.597 EIF2C4 192670 broad.mit.edu 37 1 36306953 36306953 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:36306953C>T uc001bzj.1 + 14 2102 c.1912C>T c.(1912-1914)CAA>TAA p.Q638* NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 638 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCTCTACAGTCAAGAGGTCAT 0.547 ADPRHL2 54936 broad.mit.edu 37 1 36558733 36558733 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:36558733G>A uc001bzt.2 + 6 891 c.838G>A c.(838-840)GCC>ACC p.A280T ADPRHL2_uc001bzu.2_Missense_Mutation_p.A126T NM_017825 NP_060295 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 280 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity pancreas(1) 1 Myeloproliferative disorder(586;0.0393) GGTACCCACCGCCATCTACTG 0.547 SCMH1 22955 broad.mit.edu 37 1 41608726 41608726 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:41608726G>T uc001cgo.2 - 6 517 c.206C>A c.(205-207)CCC>CAC p.P69H SCMH1_uc010ojr.1_Missense_Mutation_p.P22H|SCMH1_uc001cgp.2_Missense_Mutation_p.P8H|SCMH1_uc001cgr.2_Missense_Mutation_p.P8H|SCMH1_uc001cgs.2_Missense_Mutation_p.P79H|SCMH1_uc001cgt.2_Missense_Mutation_p.P8H|SCMH1_uc001cgq.2_Missense_Mutation_p.P22H|SCMH1_uc010ojs.1_RNA NM_001031694 NP_001026864 Q96GD3 SCMH1_HUMAN sex comb on midleg 1 isoform 1 69 MBT 1. anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) GGTGTTCCTGGGGTCCTGTGC 0.493 FOXJ3 22887 broad.mit.edu 37 1 42657010 42657010 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:42657010C>A uc001che.2 - 11 1627 c.1315G>T c.(1315-1317)GCA>TCA p.A439S FOXJ3_uc001chf.2_Missense_Mutation_p.A439S|FOXJ3_uc001chg.2_Missense_Mutation_p.A439S|FOXJ3_uc001chh.1_Missense_Mutation_p.A405S NM_014947 NP_055762 Q9UPW0 FOXJ3_HUMAN forkhead box J3 439 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2) 2 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGTGGGGGTGCCTGATGTGTT 0.493 CLDN19 149461 broad.mit.edu 37 1 43204117 43204117 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:43204117G>A uc001cht.1 - 2 554 c.363C>T c.(361-363)GCC>GCT p.A121A CLDN19_uc001chu.2_Silent_p.A121A|CLDN19_uc010ojv.1_Silent_p.A121A NM_148960 NP_683763 Q8N6F1 CLD19_HUMAN claudin 19 isoform a 121 Helical; (Potential). calcium-independent cell-cell adhesion|response to stimulus|visual perception basolateral plasma membrane|integral to membrane|tight junction identical protein binding 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGCTCCCCCGGCGATGGCAA 0.652 TIE1 7075 broad.mit.edu 37 1 43775113 43775113 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:43775113C>T uc001ciu.2 + 9 1322 c.1243C>T c.(1243-1245)CGC>TGC p.R415C TIE1_uc010okd.1_Missense_Mutation_p.R415C|TIE1_uc010oke.1_Missense_Mutation_p.R370C|TIE1_uc009vwq.2_Missense_Mutation_p.R371C|TIE1_uc010okf.1_Missense_Mutation_p.R60C|TIE1_uc010okg.1_Missense_Mutation_p.R60C|TIE1_uc010okc.1_3'UTR NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 415 Ig-like C2-type 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGAGGTGCCCCGCTTGGTTCT 0.587 TESK2 10420 broad.mit.edu 37 1 45810622 45810622 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:45810622C>T uc001cns.1 - 11 2009 c.1606G>A c.(1606-1608)GCG>ACG p.A536T TESK2_uc009vxr.1_Missense_Mutation_p.A507T|TESK2_uc010olo.1_Missense_Mutation_p.A453T|TESK2_uc009vxs.1_Missense_Mutation_p.A328T NM_007170 NP_009101 Q96S53 TESK2_HUMAN testis-specific protein kinase 2 536 actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(2)|pancreas(1) 5 Acute lymphoblastic leukemia(166;0.155) GAAGCACCCGCAGGGCATGGA 0.582 KIAA0494 9813 broad.mit.edu 37 1 47144205 47144205 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:47144205G>T uc001cqk.3 - 11 2393 c.1416C>A c.(1414-1416)AGC>AGA p.S472R KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Missense_Mutation_p.S264R NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 472 EF-hand 2. calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) ATGCTCTCAAGCTCTCTGGTT 0.473 CYP4B1 1580 broad.mit.edu 37 1 47279221 47279221 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:47279221C>T uc001cqm.3 + 5 647 c.563C>T c.(562-564)GCG>GTG p.A188V CYP4B1_uc009vyl.1_Missense_Mutation_p.A25V|CYP4B1_uc001cqn.3_Missense_Mutation_p.A188V|CYP4B1_uc009vym.2_Missense_Mutation_p.A173V|CYP4B1_uc010omk.1_Missense_Mutation_p.A25V|CYP4B1_uc010oml.1_Missense_Mutation_p.A25V NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 188 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) GGTCACATGGCGCTGAACACA 0.572 CYP4A22 284541 broad.mit.edu 37 1 47607809 47607809 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:47607809A>C uc001cqv.1 + 4 463 c.412A>C c.(412-414)ACA>CCA p.T138P CYP4A22_uc009vyo.2_Missense_Mutation_p.T138P|CYP4A22_uc009vyp.2_Missense_Mutation_p.T138P NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 138 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 GAATGGGCAGACATGGTTCCA 0.532 CDCP2 200008 broad.mit.edu 37 1 54607090 54607090 + Silent SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:54607090G>C uc001cwv.1 - 3 1292 c.444C>G c.(442-444)GTC>GTG p.V148V NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 precursor 148 CUB 2. extracellular region ovary(1) 1 GGCCAGTCAGGACGCCGCCAC 0.597 FOXD3 27022 broad.mit.edu 37 1 63789265 63789265 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:63789265G>A uc001dax.2 + 1 536 c.536G>A c.(535-537)AGG>AAG p.R179K NM_012183 NP_036315 Q9UJU5 FOXD3_HUMAN forkhead box D3 179 Fork-head. axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CCCTACTACAGGGAGAAGTTC 0.617 SGIP1 84251 broad.mit.edu 37 1 67154912 67154912 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:67154912C>A uc001dcr.2 + 16 1614 c.1397C>A c.(1396-1398)CCA>CAA p.P466Q SGIP1_uc010opd.1_Missense_Mutation_p.P66Q|SGIP1_uc001dcs.2_Missense_Mutation_p.P66Q|SGIP1_uc001dct.2_Missense_Mutation_p.P66Q|SGIP1_uc009wat.2_Missense_Mutation_p.P260Q NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 466 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 CCCCGGCCTCCATCCCGGCCA 0.532 DIRAS3 9077 broad.mit.edu 37 1 68512338 68512338 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:68512338T>C uc001ded.2 - 2 938 c.643A>G c.(643-645)ATG>GTG p.M215V uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 215 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 GTGTTGGGCATCTGGGATTTC 0.522 CCDC18 343099 broad.mit.edu 37 1 93682304 93682304 + Splice_Site SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:93682304G>T uc001dpq.2 + 13 2352 c.2184_splice c.e13+1 p.M728_splice CCDC18_uc009wdl.1_Splice_Site_p.M289_splice NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) GGAGCTTATGGTAAAACTTAT 0.308 AGL 178 broad.mit.edu 37 1 100345508 100345508 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:100345508A>G uc001dsi.1 + 13 2041 c.1641A>G c.(1639-1641)CAA>CAG p.Q547Q AGL_uc001dsj.1_Silent_p.Q547Q|AGL_uc001dsk.1_Silent_p.Q547Q|AGL_uc001dsl.1_Silent_p.Q547Q|AGL_uc001dsm.1_Silent_p.Q531Q|AGL_uc001dsn.1_Silent_p.Q530Q NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 547 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GGAATTTGCAACCCAATTTAT 0.378 FNDC7 163479 broad.mit.edu 37 1 109276074 109276074 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:109276074G>A uc001dvx.2 + 10 2060 c.2060G>A c.(2059-2061)GGG>GAG p.G687E FNDC7_uc010ova.1_Missense_Mutation_p.G454E NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 688 Fibronectin type-III 8. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) ATACCCTGTGGGGATGTATAC 0.443 CELSR2 1952 broad.mit.edu 37 1 109801344 109801344 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:109801344C>T uc001dxa.3 + 2 3662 c.3601C>T c.(3601-3603)CCC>TCC p.P1201S NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1201 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) gcccTTCCTGCCCTCTGAGGA 0.602 ATXN7L2 127002 broad.mit.edu 37 1 110029157 110029157 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:110029157C>G uc001dxr.2 + 3 238 c.223C>G c.(223-225)CAT>GAT p.H75D ATXN7L2_uc001dxs.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 75 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CTGCCCTGCCCATGATGACTT 0.552 GPR61 83873 broad.mit.edu 37 1 110086455 110086455 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:110086455G>C uc001dxy.2 + 2 1494 c.811G>C c.(811-813)GCC>CCC p.A271P NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 271 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) CAGCTCGGGGGCCCCCCAGAC 0.662 RSBN1 54665 broad.mit.edu 37 1 114309746 114309747 + Missense_Mutation DNP TC TC AT TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:114309746_114309747TC>AT uc001edq.2 - 6 1945_1946 c.1909_1910GA>AT c.(1909-1911)GAT>ATT p.D637I RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 637 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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) TTCATGAAGATCTAACTGAAGT 0.317 NHLH2 4808 broad.mit.edu 37 1 116380625 116380625 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:116380625G>T uc009wgz.2 - 2 874 c.369C>A c.(367-369)ATC>ATA p.I123I NHLH2_uc001efy.2_Silent_p.I123I NM_001111061 NP_001104531 Q02577 HEN2_HUMAN nescient helix loop helix 2 123 Helix-loop-helix motif. cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Lung SC(450;0.184) all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AGATGTAGCAGATGGCCAGGC 0.652 VPS45 11311 broad.mit.edu 37 1 150040745 150040745 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:150040745T>G uc001etp.2 + 2 725 c.152T>G c.(151-153)CTC>CGC p.L51R VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.L15R|VPS45_uc010pbs.1_Missense_Mutation_p.L15R|VPS45_uc009wlm.1_Missense_Mutation_p.L51R|VPS45_uc010pbr.1_Missense_Mutation_p.L15R NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45A 51 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction central_nervous_system(1)|skin(1) 2 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAAGTGTACCTCTTTGAACGC 0.373 ANP32E 81611 broad.mit.edu 37 1 150201521 150201521 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:150201521G>A uc001etw.2 - 4 747 c.377C>T c.(376-378)ACA>ATA p.T126I ANP32E_uc010pbt.1_5'Flank|ANP32E_uc010pbu.1_Missense_Mutation_p.T78I|ANP32E_uc010pbv.1_Missense_Mutation_p.T85I|ANP32E_uc001etv.3_Missense_Mutation_p.T126I|ANP32E_uc010pbw.1_Intron NM_030920 NP_112182 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 126 LRRCT. cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TTCCAGGTTTGTGATCTCACA 0.323 APH1A 51107 broad.mit.edu 37 1 150240152 150240152 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:150240152C>T uc001ety.1 - 3 644 c.322G>A c.(322-324)GGA>AGA p.G108R APH1A_uc010pbx.1_Intron|APH1A_uc001etz.1_Missense_Mutation_p.G108R|APH1A_uc001eua.1_Missense_Mutation_p.G108R|APH1A_uc010pby.1_Missense_Mutation_p.G51R|APH1A_uc001eub.1_5'UTR|APH1A_uc010pbz.1_5'UTR NM_001077628 NP_001071096 Q96BI3 APH1A_HUMAN anterior pharynx defective 1 homolog A isoform 108 Cytoplasmic (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane protein binding ovary(1)|lung(1) 2 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGTGATCTTCCGTCCTCACTC 0.592 SEMA6C 10500 broad.mit.edu 37 1 151115071 151115071 + Silent SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:151115071G>C uc001ewu.2 - 3 327 c.27C>G c.(25-27)CCC>CCG p.P9P SEMA6C_uc001ewv.2_Silent_p.P9P|SEMA6C_uc001eww.2_Silent_p.P9P|SEMA6C_uc010pcq.1_Silent_p.P9P|SEMA6C_uc009wml.1_Intron NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 9 integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTAGCAGCAAGGGCATGAAGT 0.647 MRPL9 65005 broad.mit.edu 37 1 151732634 151732634 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:151732634T>A uc001eyv.2 - 7 781 c.696A>T c.(694-696)AGA>AGT p.R232S MRPL9_uc009wmz.2_RNA NM_031420 NP_113608 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 precursor 232 translation mitochondrial ribosome structural constituent of ribosome ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ACATAGGCACTCTCACAGTAT 0.478 HRNR 388697 broad.mit.edu 37 1 152192965 152192965 + Silent SNP C C T rs139453762 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:152192965C>T uc001ezt.1 - 3 1216 c.1140G>A c.(1138-1140)ACG>ACA p.T380T NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 380 4. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGCCCTGACGTAGATCCAT 0.567 FLG 2312 broad.mit.edu 37 1 152284910 152284910 + Missense_Mutation SNP G G C rs147738817 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:152284910G>C uc001ezu.1 - 3 2488 c.2452C>G c.(2452-2454)CAA>GAA p.Q818E uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 818 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGATCCTTGTCTTACTCCA 0.562 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152327308 152327308 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:152327308G>C uc001ezw.3 - 3 3027 c.2954C>G c.(2953-2955)TCT>TGT p.S985C uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 985 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCAAAGCCAGAGGATTTTCC 0.498 SLC27A3 11000 broad.mit.edu 37 1 153749026 153749026 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:153749026G>T uc001fcz.2 + 2 906 c.841G>T c.(841-843)GCC>TCC p.A281S SLC27A3_uc009won.2_RNA NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN solute carrier family 27 member 3 281 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding ovary(1) 1 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGACCTGCCCGCCCTGAGAGC 0.622 HCN3 57657 broad.mit.edu 37 1 155252420 155252420 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:155252420C>T uc001fjz.1 + 2 505 c.497C>T c.(496-498)ACG>ATG p.T166M RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Translation_Start_Site NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 166 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCCATCCGCACGCGCTACCTG 0.582 KIRREL 55243 broad.mit.edu 37 1 158059568 158059568 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:158059568T>C uc001frn.3 + 10 1636 c.1232T>C c.(1231-1233)GTG>GCG p.V411A KIRREL_uc010pib.1_Missense_Mutation_p.V311A|KIRREL_uc009wsq.2_Missense_Mutation_p.V247A|KIRREL_uc001fro.3_Missense_Mutation_p.V225A NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 411 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) GGTGGCAAGGTGGAGTGTTTC 0.592 CD1A 909 broad.mit.edu 37 1 158226016 158226016 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:158226016G>A uc001frt.2 + 3 1081 c.548G>A c.(547-549)TGC>TAC p.C183Y NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 183 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) AGTGACACCTGCCCACGTTTC 0.463 OR10T2 128360 broad.mit.edu 37 1 158368498 158368498 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:158368498G>A uc010pih.1 - 1 759 c.759C>T c.(757-759)GGC>GGT p.G253G NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) TAGAGGCACAGCCATAGTGGA 0.507 FCRLA 84824 broad.mit.edu 37 1 161682971 161682971 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:161682971C>A uc001gbe.2 + 6 1192 c.950C>A c.(949-951)CCT>CAT p.P317H FCRLA_uc001gbd.2_Missense_Mutation_p.P311H|FCRLA_uc001gbf.2_Missense_Mutation_p.P222H|FCRLA_uc001gbg.2_Missense_Mutation_p.P171H|FCRLA_uc009wuo.2_Missense_Mutation_p.P177H|FCRLA_uc009wup.2_Missense_Mutation_p.P127H|FCRLA_uc009wuq.2_Missense_Mutation_p.P76H NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 294 Pro-rich. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GGGCCTCTGCCTCCGCCGCCA 0.572 ATF6 22926 broad.mit.edu 37 1 161789511 161789511 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:161789511G>T uc001gbr.2 + 8 1065 c.998G>T c.(997-999)GGG>GTG p.G333V ATF6_uc001gbq.1_Missense_Mutation_p.G333V NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 333 Cytoplasmic (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TATATGCTAGGGTTAGAGGCG 0.428 UAP1 6675 broad.mit.edu 37 1 162569119 162569119 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:162569119A>G uc001gce.3 + 10 1813 c.1484A>G c.(1483-1485)AAT>AGT p.N495S NM_003115 NP_003106 Q16222 UAP1_HUMAN UDP-N-acetylglucosamine pyrophosphorylase 1 512 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity ovary(2)|skin(2)|kidney(1) 5 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) ATCGATGAGAATGGAGTTCAT 0.348 FAM78B 149297 broad.mit.edu 37 1 166039482 166039482 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:166039482T>G uc001gdr.2 - 3 1372 c.782A>C c.(781-783)AAG>ACG p.K261T FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA NM_001017961 NP_001017961 Q5VT40 FA78B_HUMAN hypothetical protein LOC149297 261 central_nervous_system(1)|skin(1) 2 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) CTGCTTCTACTTAGGAGGGAT 0.577 F5 2153 broad.mit.edu 37 1 169500218 169500218 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:169500218C>T uc001ggg.1 - 15 5159 c.5014G>A c.(5014-5016)GCC>ACC p.A1672T NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1672 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGTCCATGGGCATGTAGAGAA 0.363 TPR 7175 broad.mit.edu 37 1 186300651 186300651 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:186300651A>G uc001grv.2 - 39 5964 c.5667T>C c.(5665-5667)GAT>GAC p.D1889D NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1889 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) AATCTTGAGAATCCTGGTTGT 0.343 T NTRK1 papillary thyroid CRB1 23418 broad.mit.edu 37 1 197404057 197404057 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:197404057A>C uc001gtz.2 + 9 3199 c.3064A>C c.(3064-3066)AGT>CGT p.S1022R CRB1_uc010poz.1_Missense_Mutation_p.S998R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.S910R|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.S503R|CRB1_uc001gub.1_Missense_Mutation_p.S671R NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1022 Extracellular (Potential).|Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TTATATGCTAAGTCTGACAAG 0.413 KIF21B 23046 broad.mit.edu 37 1 200978019 200978019 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:200978019C>G uc001gvs.1 - 3 642 c.325G>C c.(325-327)GAG>CAG p.E109Q KIF21B_uc001gvr.1_Missense_Mutation_p.E109Q|KIF21B_uc009wzl.1_Missense_Mutation_p.E109Q|KIF21B_uc010ppn.1_Missense_Mutation_p.E109Q NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 109 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 ATGCCCTGCTCCTCCTCCGAC 0.627 KLHDC8A 55220 broad.mit.edu 37 1 205312566 205312566 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:205312566G>T uc001hcf.1 - 2 735 c.167C>A c.(166-168)GCC>GAC p.A56D KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Missense_Mutation_p.A56D NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 56 Kelch 2. ovary(1) 1 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) CCACTGGTCGGCCTCCGGGGA 0.701 SLC26A9 115019 broad.mit.edu 37 1 205892549 205892549 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:205892549C>T uc001hdq.2 - 15 1687 c.1573G>A c.(1573-1575)GAT>AAT p.D525N SLC26A9_uc001hdo.2_Missense_Mutation_p.D193N|SLC26A9_uc001hdp.2_Missense_Mutation_p.D525N NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 525 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity ovary(1)|skin(1) 2 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CCCTGGATATCCTGGGCCTGT 0.483 C1orf186 440712 broad.mit.edu 37 1 206241563 206241563 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:206241563C>G uc001hdt.1 - 4 865 c.226G>C c.(226-228)GAC>CAC p.D76H NM_001007544 NP_001007545 Q6ZWK4 CA186_HUMAN hypothetical protein LOC440712 76 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(75;0.0754) ATTGGGATGTCTCTCTCTGTC 0.542 C1orf116 79098 broad.mit.edu 37 1 207198323 207198323 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:207198323C>A uc001hfd.2 - 3 451 c.192G>T c.(190-192)GAG>GAT p.E64D C1orf116_uc009xcb.1_Translation_Start_Site NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 64 cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) CGCTGTCAGCCTCCGTGTCCA 0.567 SERTAD4 56256 broad.mit.edu 37 1 210415046 210415046 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:210415046G>A uc001hhy.2 + 4 614 c.435G>A c.(433-435)ATG>ATA p.M145I SERTAD4_uc009xcw.2_Missense_Mutation_p.M145I NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 145 SERTA. protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) AAATTATCATGCAGAATAACT 0.443 RD3 343035 broad.mit.edu 37 1 211654657 211654657 + Missense_Mutation SNP G G A rs148242709 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:211654657G>A uc001him.2 - 2 1265 c.101C>T c.(100-102)ACG>ATG p.T34M RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron NM_183059 NP_898882 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 34 Potential. response to stimulus|visual perception ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) CATCTGCCCCGTCAGCTCCAT 0.627 SLC30A1 7779 broad.mit.edu 37 1 211749121 211749121 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:211749121G>A uc001hio.1 - 2 1278 c.1133C>T c.(1132-1134)GCT>GTT p.A378V NM_021194 NP_067017 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), 378 Cytoplasmic (Potential). cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) TCTGCTTCCAGCAAGTTGCCA 0.358 PTPN14 5784 broad.mit.edu 37 1 214588019 214588019 + Missense_Mutation SNP C C T rs139895368 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:214588019C>T uc001hkk.1 - 4 666 c.395G>A c.(394-396)CGA>CAA p.R132Q PTPN14_uc010pty.1_Missense_Mutation_p.R33Q NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 132 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CAATGTACATCGTAATCGCCC 0.413 CENPF 1063 broad.mit.edu 37 1 214818924 214818924 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:214818924T>C uc001hkm.2 + 13 6185 c.6011T>C c.(6010-6012)GTG>GCG p.V2004A NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2100 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGCATTCAGGTGGCAGAGGCA 0.438 KCTD3 51133 broad.mit.edu 37 1 215793628 215793628 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:215793628A>G uc001hks.2 + 18 2410 c.2116A>G c.(2116-2118)ATA>GTA p.I706V KCTD3_uc001hkt.2_Missense_Mutation_p.I704V|KCTD3_uc010pub.1_Missense_Mutation_p.I604V|KCTD3_uc009xdn.2_Missense_Mutation_p.I430V NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 706 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GGAATGTAATATATCTGAGAG 0.373 KCTD3 51133 broad.mit.edu 37 1 215793684 215793684 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:215793684T>A uc001hks.2 + 18 2466 c.2172T>A c.(2170-2172)AGT>AGA p.S724R KCTD3_uc001hkt.2_Missense_Mutation_p.S722R|KCTD3_uc010pub.1_Missense_Mutation_p.S622R|KCTD3_uc009xdn.2_Missense_Mutation_p.S448R NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 724 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) AATTGGATAGTGGATTGGAAG 0.358 USH2A 7399 broad.mit.edu 37 1 215901410 215901410 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:215901410T>C uc001hku.1 - 61 12415 c.12028A>G c.(12028-12030)ACA>GCA p.T4010A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4010 Fibronectin type-III 25.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTTAAATGTAGGATCGTCG 0.433 HNSCC(13;0.011) USH2A 7399 broad.mit.edu 37 1 216246578 216246578 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:216246578C>T uc001hku.1 - 28 6024 c.5637G>A c.(5635-5637)GTG>GTA p.V1879V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1879 Fibronectin type-III 5.|Laminin G-like 2.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CACCGCTGGACACAGATGCCA 0.468 HNSCC(13;0.011) SPATA17 128153 broad.mit.edu 37 1 218036114 218036114 + Splice_Site SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:218036114A>G uc001hlh.1 + 10 1032 c.1006_splice c.e10-2 p.D336_splice SPATA17_uc001hli.2_Splice_Site_p.D336_splice NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TTTTCCTCCTAGGATTTCCAG 0.303 TAF1A 9015 broad.mit.edu 37 1 222736624 222736624 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:222736624G>A uc009xdz.1 - 9 1165 c.976C>T c.(976-978)CGT>TGT p.R326C TAF1A_uc009xdy.1_Missense_Mutation_p.R17C|TAF1A_uc001hni.1_Missense_Mutation_p.R212C|TAF1A_uc001hnj.2_Missense_Mutation_p.R326C|TAF1A_uc001hnk.2_Missense_Mutation_p.R212C NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 326 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding 0 GBM - Glioblastoma multiforme(131;0.0186) CCCAGTTTACGGTGTTCTTCT 0.313 DISP1 84976 broad.mit.edu 37 1 223177310 223177310 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:223177310A>G uc001hnu.1 + 8 2718 c.2571A>G c.(2569-2571)AAA>AAG p.K857K NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 857 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) AGACATTCAAACAGTGGATGG 0.463 GJC2 57165 broad.mit.edu 37 1 228346215 228346215 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:228346215C>T uc001hsk.2 + 2 931 c.756C>T c.(754-756)CAC>CAT p.H252H NM_020435 NP_065168 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 252 Extracellular (Potential). H -> Q (in Ref. 1; AAB94511). cell death connexon complex|integral to membrane 0 Prostate(94;0.0405) CCTGCCCGCACGTGGTGGACT 0.622 HIST3H2BB 128312 broad.mit.edu 37 1 228646133 228646133 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:228646133G>A uc001hsz.2 + 1 326 c.303G>A c.(301-303)CTG>CTA p.L101L HIST3H2A_uc001hsy.2_5'Flank NM_175055 NP_778225 Q8N257 H2B3B_HUMAN histone cluster 3, H2bb 101 nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 Prostate(94;0.183) CCGTTCGCCTGCTGCTGCCCG 0.652 NUP133 55746 broad.mit.edu 37 1 229580678 229580678 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:229580678T>C uc001htn.2 - 25 3409 c.3317A>G c.(3316-3318)CAG>CGG p.Q1106R NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1106 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TAAAAGTTTCTGTAAGATCTT 0.284 NUP133 55746 broad.mit.edu 37 1 229593999 229593999 + Nonsense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:229593999G>C uc001htn.2 - 21 2981 c.2889C>G c.(2887-2889)TAC>TAG p.Y963* uc001hto.1_5'Flank NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 963 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TCTTTGCAAAGTAACGAGTTT 0.373 RYR2 6262 broad.mit.edu 37 1 237872259 237872259 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:237872259T>C uc001hyl.1 + 69 10123 c.10003T>C c.(10003-10005)TCT>CCT p.S3335P RYR2_uc010pxz.1_Missense_Mutation_p.S290P NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3335 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) TACGGTGGTGTCTGAGGAAGA 0.478 EXO1 9156 broad.mit.edu 37 1 242015657 242015657 + Silent SNP C C T rs141548668 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:242015657C>T uc001hzh.2 + 5 765 c.225C>T c.(223-225)CTC>CTT p.L75L EXO1_uc001hzi.2_Silent_p.L75L|EXO1_uc001hzj.2_Silent_p.L75L|EXO1_uc009xgq.2_Silent_p.L75L NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 75 N-domain. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AGCCTATTCTCGTATTTGATG 0.323 Direct_reversal_of_damage|Editing_and_processing_nucleases SDCCAG8 10806 broad.mit.edu 37 1 243493858 243493858 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:243493858A>C uc001hzw.2 + 10 1241 c.1085A>C c.(1084-1086)GAC>GCC p.D362A SDCCAG8_uc010pyk.1_Missense_Mutation_p.D217A|SDCCAG8_uc010pyl.1_Missense_Mutation_p.D174A|SDCCAG8_uc001hzx.2_Missense_Mutation_p.D174A NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 362 Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) ATCCAGTGTGACCAGTTGAGG 0.398 KIF26B 55083 broad.mit.edu 37 1 245852058 245852058 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:245852058G>A uc001ibf.1 + 12 6213 c.5773G>A c.(5773-5775)GTG>ATG p.V1925M KIF26B_uc001ibg.1_Missense_Mutation_p.V1543M|KIF26B_uc001ibh.1_Missense_Mutation_p.V1167M NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1925 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CAGCAGCTCCGTGGGCGGCAG 0.721 CNST 163882 broad.mit.edu 37 1 246810592 246810592 + Silent SNP G G A rs149614716 by1000genomes TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:246810592G>A uc001ibp.2 + 9 1467 c.1089G>A c.(1087-1089)CTG>CTA p.L363L CNST_uc001ibo.3_Silent_p.L363L NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 363 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 TGGAGGAGCTGCTCTGCAGCG 0.597 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) UPF2 26019 broad.mit.edu 37 10 12001356 12001356 + Splice_Site SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:12001356C>T uc001ila.2 - 11 2659 c.2185_splice c.e11-1 p.E729_splice UPF2_uc001ilb.2_Splice_Site_p.E729_splice|UPF2_uc001ilc.2_Splice_Site_p.E729_splice|UPF2_uc009xiz.1_Splice_Site_p.E729_splice NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TCATTTGCTCCTGAAATAAAA 0.363 DCLRE1C 64421 broad.mit.edu 37 10 14951067 14951067 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:14951067C>T uc001inn.2 - 14 1504 c.1419G>A c.(1417-1419)CTG>CTA p.L473L DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Silent_p.L126L|DCLRE1C_uc001inl.2_Silent_p.L353L|DCLRE1C_uc009xji.2_Silent_p.L358L|DCLRE1C_uc001inm.2_Silent_p.L353L|DCLRE1C_uc001ino.2_Silent_p.L358L|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Silent_p.L353L|DCLRE1C_uc001inq.2_Silent_p.L353L|DCLRE1C_uc001inr.2_Silent_p.L358L NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 473 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 GTACAGAGCCCAGATCTCCTT 0.423 Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ ST8SIA6 338596 broad.mit.edu 37 10 17363149 17363149 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:17363149G>A uc001ipd.2 - 8 925 c.925C>T c.(925-927)CTT>TTT p.L309F ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 309 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 CTCCAGAAAAGGGCCAGATCT 0.443 MLLT10 8028 broad.mit.edu 37 10 21959610 21959610 + Nonsense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:21959610C>G uc001iqs.2 + 10 1376 c.1028C>G c.(1027-1029)TCA>TGA p.S343* MLLT10_uc001iqt.2_Nonsense_Mutation_p.S343*|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Nonsense_Mutation_p.S343*|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001irb.2_5'Flank|MLLT10_uc001iqz.2_Nonsense_Mutation_p.S98* NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 343 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 ACAACTGTGTCAGCAGCTAGC 0.398 T MLL|PICALM|CDK6 AL MYO3A 53904 broad.mit.edu 37 10 26385597 26385597 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:26385597G>A uc001isn.2 + 17 2122 c.1762G>A c.(1762-1764)GGT>AGT p.G588S MYO3A_uc009xko.1_Missense_Mutation_p.G588S|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.G588S NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 588 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 CAAAGTCATAGGTTTTACAAT 0.274 ARMC4 55130 broad.mit.edu 37 10 28196696 28196696 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:28196696G>A uc009xky.2 - 17 2604 c.2506C>T c.(2506-2508)CGC>TGC p.R836C ARMC4_uc010qds.1_Missense_Mutation_p.R361C|ARMC4_uc010qdt.1_Missense_Mutation_p.R528C|ARMC4_uc001itz.2_Missense_Mutation_p.R836C NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 836 ARM 6. binding ovary(4)|skin(2) 6 CCATCTAAGCGATCAATTATC 0.403 PPYR1 5540 broad.mit.edu 37 10 47087134 47087134 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:47087134G>A uc001jee.2 + 3 770 c.351G>A c.(349-351)TCG>TCA p.S117S ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.S117S NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 117 Helical; Name=3; (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 GCAAGATGTCGGCCTTCATCC 0.582 FRMPD2 143162 broad.mit.edu 37 10 49447648 49447648 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:49447648C>T uc001jgi.2 - 7 895 c.788G>A c.(787-789)CGC>CAC p.R263H FRMPD2_uc001jgh.2_Missense_Mutation_p.R232H|FRMPD2_uc001jgj.2_Missense_Mutation_p.R241H NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 263 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) TGCTGCTTACCGGTTAACAAG 0.488 MAPK8 5599 broad.mit.edu 37 10 49609720 49609720 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:49609720G>A uc009xnz.2 + 2 241 c.17G>A c.(16-18)CGT>CAT p.R6H MAPK8_uc001jgl.2_Missense_Mutation_p.R6H|MAPK8_uc001jgm.2_Missense_Mutation_p.R6H|MAPK8_uc001jgo.2_Missense_Mutation_p.R6H|MAPK8_uc009xoa.2_Missense_Mutation_p.R6H|MAPK8_uc001jgn.2_Missense_Mutation_p.R6H|MAPK8_uc010qgk.1_Missense_Mutation_p.R6H|MAPK8_uc001jgp.2_Missense_Mutation_p.R6H|MAPK8_uc001jgq.2_Missense_Mutation_p.R6H NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 6 activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) AGAAGCAAGCGTGACAACAAT 0.358 CHAT 1103 broad.mit.edu 37 10 50872965 50872965 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:50872965T>G uc001jhz.2 + 15 2273 c.2120T>G c.(2119-2121)TTT>TGT p.F707C CHAT_uc001jhv.1_Missense_Mutation_p.F589C|CHAT_uc001jhx.1_Missense_Mutation_p.F589C|CHAT_uc001jhy.1_Missense_Mutation_p.F589C|CHAT_uc001jia.2_Missense_Mutation_p.F589C|CHAT_uc010qgs.1_Intron NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 707 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) TCTAGCAAGTTTGCAAAAGCT 0.502 CHAT 1103 broad.mit.edu 37 10 50872972 50872972 + Silent SNP A A G rs145995632 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:50872972A>G uc001jhz.2 + 15 2280 c.2127A>G c.(2125-2127)AAA>AAG p.K709K CHAT_uc001jhv.1_Silent_p.K591K|CHAT_uc001jhx.1_Silent_p.K591K|CHAT_uc001jhy.1_Silent_p.K591K|CHAT_uc001jia.2_Silent_p.K591K|CHAT_uc010qgs.1_Intron NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 709 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) AGTTTGCAAAAGCTGTGGAAG 0.507 PCDH15 65217 broad.mit.edu 37 10 55566740 55566740 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:55566740T>C uc010qhq.1 - 36 5043 c.4648A>G c.(4648-4650)AAT>GAT p.N1550D PCDH15_uc010qhr.1_Missense_Mutation_p.N1545D NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD3-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACAGAACCATTCTGTGCAATA 0.473 HNSCC(58;0.16) ZWINT 11130 broad.mit.edu 37 10 58118615 58118615 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:58118615G>A uc001jjx.1 - 6 611 c.574C>T c.(574-576)CTT>TTT p.L192F ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.L192F|ZWINT_uc009xoy.1_RNA NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 192 Potential. cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 AGGTTTCCAAGTTTCTGAAAC 0.552 FAM13C 220965 broad.mit.edu 37 10 61043178 61043178 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:61043178C>A uc001jkn.2 - 7 671 c.537G>T c.(535-537)AAG>AAT p.K179N FAM13C_uc001jko.2_Missense_Mutation_p.K179N|FAM13C_uc010qid.1_Missense_Mutation_p.K96N|FAM13C_uc010qie.1_Missense_Mutation_p.K96N|FAM13C_uc010qif.1_Missense_Mutation_p.K201N|FAM13C_uc001jkp.2_Missense_Mutation_p.K96N NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 179 ovary(2) 2 GCGCCGGGTCCTTGACTCCAT 0.532 HKDC1 80201 broad.mit.edu 37 10 71008477 71008477 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:71008477C>T uc001jpf.3 + 10 1696 c.1563C>T c.(1561-1563)GAC>GAT p.D521D HKDC1_uc010qje.1_Silent_p.D384D NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 521 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 GGCTGCCGGACGGCACAGGTG 0.597 HKDC1 80201 broad.mit.edu 37 10 71010409 71010409 + Splice_Site SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:71010409G>T uc001jpf.3 + 12 1969 c.1836_splice c.e12+1 p.K612_splice HKDC1_uc010qje.1_Splice_Site_p.K475_splice NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 CATTGACAAGGTAAGATAGCC 0.562 TYSND1 219743 broad.mit.edu 37 10 71899686 71899686 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:71899686C>T uc001jqr.2 - 4 1849 c.1695G>A c.(1693-1695)AAG>AAA p.K565K TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_3'UTR|TYSND1_uc001jqt.2_RNA NM_173555 NP_775826 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 isoform a 565 proteolysis peroxisome serine-type endopeptidase activity large_intestine(1) 1 AGCCTCAGAGCTTGCTCCGCG 0.622 GRID1 2894 broad.mit.edu 37 10 87966267 87966267 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:87966267C>T uc001kdl.1 - 3 475 c.374G>A c.(373-375)CGC>CAC p.R125H GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 125 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) GCATGCGGTGCGTGGCGACCC 0.632 Multiple Myeloma(13;0.14) ATAD1 84896 broad.mit.edu 37 10 89536099 89536099 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:89536099C>A uc001key.1 - 5 952 c.669G>T c.(667-669)TTG>TTT p.L223F ATAD1_uc010qmr.1_Missense_Mutation_p.L165F|ATAD1_uc009xth.1_RNA|ATAD1_uc001kez.1_Missense_Mutation_p.L223F NM_032810 NP_116199 Q8NBU5 ATAD1_HUMAN ATPase family, AAA domain containing 1 223 peroxisome ATP binding|nucleoside-triphosphatase activity large_intestine(1)|ovary(1) 2 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) GATCAGTATCCAATCCATCCC 0.398 IDE 3416 broad.mit.edu 37 10 94294388 94294388 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:94294388A>G uc001kia.2 - 3 514 c.438T>C c.(436-438)CAT>CAC p.H146H NM_004969 NP_004960 P14735 IDE_HUMAN insulin-degrading enzyme isoform 1 precursor 146 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGTAATTGGTATGCTCTCCAC 0.378 PDE6C 5146 broad.mit.edu 37 10 95381725 95381725 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:95381725C>G uc001kiu.3 + 4 898 c.760C>G c.(760-762)CTC>GTC p.L254V NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 254 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) ATTTGAAGAACTCACAGATGT 0.398 DNMBP 23268 broad.mit.edu 37 10 101656136 101656136 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:101656136C>T uc001kqj.2 - 10 3031 c.2939G>A c.(2938-2940)GGT>GAT p.G980D DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Missense_Mutation_p.G268D|DNMBP_uc001kqh.2_Missense_Mutation_p.G612D NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 980 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ATCTTCATCACCCTTACGGTA 0.438 LZTS2 84445 broad.mit.edu 37 10 102763727 102763727 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:102763727G>T uc001ksj.2 + 3 941 c.872G>T c.(871-873)GGG>GTG p.G291V LZTS2_uc010qpw.1_Missense_Mutation_p.G291V|LZTS2_uc001ksk.2_Missense_Mutation_p.G291V|LZTS2_uc001ksl.2_Missense_Mutation_p.G291V|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 291 Ser-rich.|Required for centrosomal localization (By similarity). G -> R (in a breast cancer sample; somatic mutation). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center p.G291R(1) ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) CGTGTGGCTGGGGGGCTTTTG 0.701 VWA2 340706 broad.mit.edu 37 10 116048905 116048905 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:116048905G>A uc001lbl.1 + 12 2100 c.1779G>A c.(1777-1779)GCG>GCA p.A593A VWA2_uc001lbk.1_Silent_p.A593A|VWA2_uc009xyf.1_Silent_p.A289A NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 593 VWFA 3. extracellular region ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Epithelial(162;0.036)|all cancers(201;0.0793) CCCGGGCTGCGATGCTGCGGG 0.637 EIF3A 8661 broad.mit.edu 37 10 120810115 120810115 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:120810115C>T uc001ldu.2 - 16 2537 c.2391G>A c.(2389-2391)CAG>CAA p.Q797Q EIF3A_uc010qsu.1_Silent_p.Q763Q|EIF3A_uc009xzg.1_5'Flank NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 797 Interaction with EIF3B.|Glu-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTTCTTTACGCTGCCTTTTCC 0.418 DMBT1 1755 broad.mit.edu 37 10 124396684 124396684 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:124396684C>T uc001lgk.1 + 51 6517 c.6411C>T c.(6409-6411)AGC>AGT p.S2137S DMBT1_uc001lgl.1_Silent_p.S2127S|DMBT1_uc001lgm.1_Silent_p.S1509S|DMBT1_uc009xzz.1_Silent_p.S2136S|DMBT1_uc010qtx.1_Silent_p.S857S|DMBT1_uc009yab.1_Silent_p.S840S|DMBT1_uc009yac.1_Silent_p.S431S NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2137 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCAGTGTGAGCAGGAGCTATC 0.532 C10orf90 118611 broad.mit.edu 37 10 128192844 128192844 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:128192844G>A uc001ljq.2 - 3 1046 c.925C>T c.(925-927)CTA>TTA p.L309L C10orf90_uc001ljp.2_Silent_p.L262L|C10orf90_uc010qum.1_Silent_p.L406L|C10orf90_uc009yao.2_Silent_p.L406L|C10orf90_uc001ljs.1_Silent_p.L262L NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 309 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CTGTTCACTAGGCCATCTACT 0.532 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GLRX3 10539 broad.mit.edu 37 10 131958297 131958297 + Nonsense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:131958297T>A uc001lkm.1 + 3 262 c.240T>A c.(238-240)TAT>TAA p.Y80* GLRX3_uc001lkn.1_Nonsense_Mutation_p.Y80*|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 80 Thioredoxin. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) CTGAAAAATATGAAATTAGCT 0.343 LRRC27 80313 broad.mit.edu 37 10 134188716 134188716 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:134188716A>G uc010quw.1 + 11 1758 c.1563A>G c.(1561-1563)GGA>GGG p.G521G LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Silent_p.G521G|LRRC27_uc001llj.2_Silent_p.G459G NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a 521 ovary(1) 1 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CAAAATATGGAGAATCAGGAA 0.532 PWWP2B 170394 broad.mit.edu 37 10 134219345 134219345 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:134219345G>A uc001lll.3 + 2 1370 c.1341G>A c.(1339-1341)TCG>TCA p.S447S PWWP2B_uc009ybe.2_Silent_p.S447S NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 447 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GTGACCTCTCGCCTGGCCACG 0.697 PWWP2B 170394 broad.mit.edu 37 10 134219558 134219558 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:134219558C>T uc001lll.3 + 2 1583 c.1554C>T c.(1552-1554)GAC>GAT p.D518D PWWP2B_uc009ybe.2_Intron NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 518 PWWP. 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) AGAAGGAGGACGGAGAGCCGT 0.542 ATHL1 80162 broad.mit.edu 37 11 292553 292553 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:292553A>C uc010qvu.1 + 6 1149 c.1034A>C c.(1033-1035)AAG>ACG p.K345T ATHL1_uc001lor.3_Missense_Mutation_p.K168T|ATHL1_uc001los.1_Missense_Mutation_p.K345T|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank NM_025092 NP_079368 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 345 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds liver(1)|central_nervous_system(1)|skin(1) 3 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CAGGGAGCCAAGTTTGCCTGG 0.652 TALDO1 6888 broad.mit.edu 37 11 759008 759008 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:759008G>T uc001lqz.2 + 3 330 c.280G>T c.(280-282)GAA>TAA p.E94* TALDO1_uc010qwl.1_Nonsense_Mutation_p.E94*|TALDO1_uc001lra.2_Nonsense_Mutation_p.E94* NM_006755 NP_006746 P37837 TALDO_HUMAN transaldolase 1 94 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) GTTTGGAGCAGAAATACTAAA 0.438 MUC5B 727897 broad.mit.edu 37 11 1275541 1275541 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:1275541T>C uc009ycr.1 + 56 16574 c.16448T>C c.(16447-16449)GTC>GCC p.V5483A MUC5B_uc001ltb.2_Missense_Mutation_p.V5149A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5146 VWFD 4. 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) ATGGATATCGTCCTCACTGTC 0.657 OR51S1 119692 broad.mit.edu 37 11 4870137 4870137 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:4870137G>T uc010qyo.1 - 1 302 c.302C>A c.(301-303)CCT>CAT p.P101H NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 101 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCTGAGGCAGGGACAGTGTG 0.527 OR51G1 79324 broad.mit.edu 37 11 4945149 4945149 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:4945149C>T uc010qyr.1 - 1 421 c.421G>A c.(421-423)GCA>ACA p.A141T NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 141 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAATACATGCAGGTGTCAGG 0.527 SCUBE2 57758 broad.mit.edu 37 11 9090971 9090971 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:9090971C>T uc001mhh.1 - 5 669 c.589G>A c.(589-591)GCC>ACC p.A197T SCUBE2_uc001mhi.1_Missense_Mutation_p.A197T|SCUBE2_uc001mhj.1_Missense_Mutation_p.A197T NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 197 EGF-like 4 (Potential). extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CACTCACAGGCGACGCTGCCC 0.567 ZNF143 7702 broad.mit.edu 37 11 9546824 9546824 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:9546824C>G uc001mhr.2 + 15 1842 c.1724C>G c.(1723-1725)ACT>AGT p.T575S ZNF143_uc009yfu.2_Missense_Mutation_p.T574S|ZNF143_uc010rby.1_Missense_Mutation_p.T544S NM_003442 NP_003433 P52747 ZN143_HUMAN zinc finger protein 143 575 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding 0 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) GCATTCCATACTGCCTCATCA 0.413 SBF2 81846 broad.mit.edu 37 11 9878204 9878204 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:9878204G>A uc001mib.2 - 19 2302 c.2164C>T c.(2164-2166)CGC>TGC p.R722C SBF2_uc001mif.3_Missense_Mutation_p.R478C|uc001mig.2_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 722 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GGCCAAAGGCGTAGTTGCTCA 0.453 ABCC8 6833 broad.mit.edu 37 11 17434263 17434263 + Nonsense_Mutation SNP G G A rs72559722 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:17434263G>A uc001mnc.2 - 21 2632 c.2506C>T c.(2506-2508)CGA>TGA p.R836* NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 836 ABC transporter 1.|Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) ACACTGATTCGCTGGCGTTGA 0.542 HPS5 11234 broad.mit.edu 37 11 18320518 18320518 + Splice_Site SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:18320518C>A uc001mod.1 - 10 1264 c.986_splice c.e10-1 p.D329_splice HPS5_uc001moe.1_Splice_Site_p.D215_splice|HPS5_uc001mof.1_Splice_Site_p.D215_splice NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a cytosol ovary(1)|pancreas(1)|skin(1) 3 TCCTGAATATCTACGAAAACC 0.383 Hermansky-Pudlak_syndrome SLC17A6 57084 broad.mit.edu 37 11 22363169 22363169 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:22363169A>G uc001mqk.2 + 2 595 c.182A>G c.(181-183)GAC>GGC p.D61G NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 61 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 CCGCTGTGCGACTGCACGTGC 0.647 KIF18A 81930 broad.mit.edu 37 11 28090826 28090826 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:28090826G>C uc001msc.2 - 11 1752 c.1570C>G c.(1570-1572)CAA>GAA p.Q524E NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 524 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 TGACCGTTTTGACTTAAGAGT 0.368 DEPDC7 91614 broad.mit.edu 37 11 33054300 33054300 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:33054300G>T uc001mub.2 + 7 1316 c.1224G>T c.(1222-1224)CTG>CTT p.L408L DEPDC7_uc001muc.2_Silent_p.L399L NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN novel 58.3 KDA protein isoform 1 408 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|skin(1) 2 CAGATCTTCTGGTACTCTTTT 0.279 C11orf41 25758 broad.mit.edu 37 11 33564426 33564426 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:33564426C>G uc001mup.3 + 1 550 c.426C>G c.(424-426)GCC>GCG p.A142A C11orf41_uc001mun.1_Silent_p.A142A NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 142 integral to membrane ovary(2) 2 TAGCCTCTGCCACTGCAAATG 0.522 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR8H3 390152 broad.mit.edu 37 11 55890547 55890547 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:55890547A>G uc001nii.1 + 1 699 c.699A>G c.(697-699)GGA>GGG p.G233G NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CCACTTCAGGAAAGCAGAAAG 0.398 OR8K1 390157 broad.mit.edu 37 11 56113850 56113850 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:56113850T>G uc010rjg.1 + 1 336 c.336T>G c.(334-336)ATT>ATG p.I112M NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TCTTTGAGATTTTCATCATCT 0.408 HNSCC(65;0.19) OR5M8 219484 broad.mit.edu 37 11 56258216 56258216 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:56258216A>G uc001nix.1 - 1 631 c.631T>C c.(631-633)TTC>CTC p.F211L NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) CATATGATGAAGAGAGAAAAA 0.433 OR5M10 390167 broad.mit.edu 37 11 56344805 56344805 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:56344805A>C uc001niz.1 - 1 393 c.393T>G c.(391-393)CAT>CAG p.H131Q NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGAACTGTAATGTAAAGGGC 0.458 SERPING1 710 broad.mit.edu 37 11 57373908 57373908 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:57373908A>C uc001nkp.1 + 6 1108 c.917A>C c.(916-918)AAG>ACG p.K306T SERPING1_uc001nkq.1_Missense_Mutation_p.K306T|SERPING1_uc010rju.1_Missense_Mutation_p.K254T|SERPING1_uc010rjv.1_Missense_Mutation_p.K311T|SERPING1_uc001nkr.1_Missense_Mutation_p.K306T|SERPING1_uc009ymi.1_Missense_Mutation_p.K315T|SERPING1_uc009ymj.1_Missense_Mutation_p.K306T|SERPING1_uc001nks.1_5'UTR NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 306 K -> R (in Ref. 1; AAA35613). blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 TTTGATCCCAAGAAAACCAGA 0.433 Hereditary_Angioedema LPXN 9404 broad.mit.edu 37 11 58295583 58295583 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:58295583C>G uc001nmw.2 - 8 969 c.824G>C c.(823-825)CGC>CCC p.R275P LPXN_uc009ymp.2_Missense_Mutation_p.R145P|LPXN_uc010rkj.1_Missense_Mutation_p.R280P|LPXN_uc010rkk.1_Missense_Mutation_p.R255P NM_004811 NP_004802 O60711 LPXN_HUMAN leupaxin isoform 2 275 LIM zinc-binding 3. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CAACACTGGGCGATTGCAGCC 0.473 RTN3 10313 broad.mit.edu 37 11 63523611 63523611 + Missense_Mutation SNP G G A rs140229299 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:63523611G>A uc001nxq.2 + 8 3209 c.3022G>A c.(3022-3024)GCC>ACC p.A1008T RTN3_uc001nxo.2_Missense_Mutation_p.A212T|RTN3_uc001nxm.2_Missense_Mutation_p.A231T|RTN3_uc001nxn.2_Missense_Mutation_p.A989T|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.A896T|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Silent_p.S126S NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 1008 Interaction with FADD.|Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane p.A989T(1) ovary(1) 1 TGTTGGCATCGCCCGAGATCA 0.408 CDC42BPG 55561 broad.mit.edu 37 11 64597021 64597021 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:64597021C>T uc001obs.3 - 30 3889 c.3889G>A c.(3889-3891)GCT>ACT p.A1297T NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1297 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 TAGATGCCAGCAGTGGTGAAG 0.657 NAALADL1 10004 broad.mit.edu 37 11 64824895 64824895 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:64824895A>C uc001ocn.2 - 4 567 c.551T>G c.(550-552)CTT>CGT p.L184R NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 184 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 GGTGCCTTCAAGTTTGATGCC 0.607 SCYL1 57410 broad.mit.edu 37 11 65294436 65294436 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:65294436C>T uc001oea.1 + 6 774 c.697C>T c.(697-699)CCC>TCC p.P233S SCYL1_uc009yqk.2_Missense_Mutation_p.P233S|SCYL1_uc001oeb.1_Missense_Mutation_p.P233S|SCYL1_uc001oec.1_Missense_Mutation_p.P233S|SCYL1_uc001oed.1_Missense_Mutation_p.P90S NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A 233 Protein kinase. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 CCTACAGATCCCCAAAACGCT 0.637 SLC29A2 3177 broad.mit.edu 37 11 66131005 66131005 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:66131005G>A uc001oht.2 - 12 1502 c.1273C>T c.(1273-1275)CAC>TAC p.H425Y SLC29A2_uc001ohs.2_Missense_Mutation_p.H305Y|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.H305Y|SLC29A2_uc001ohu.2_Missense_Mutation_p.H425Y|SLC29A2_uc001ohv.2_3'UTR NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 425 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 TCCCTCTCGTGTGGCAGCACC 0.572 CLCF1 23529 broad.mit.edu 37 11 67134968 67134968 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:67134968T>C uc001okq.2 - 2 342 c.146A>G c.(145-147)TAC>TGC p.Y49C LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Missense_Mutation_p.Y39C NM_013246 NP_037378 Q9UBD9 CLCF1_HUMAN cardiotrophin-like cytokine factor 1 precursor 49 B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity 0 BRCA - Breast invasive adenocarcinoma(15;2.39e-06) GTGCTCCAGGTAGCGGGTGAG 0.607 RPS6KB2 6199 broad.mit.edu 37 11 67201739 67201739 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:67201739C>A uc001old.2 + 12 1122 c.1040C>A c.(1039-1041)CCC>CAC p.P347H RPS6KB2_uc001olf.2_Missense_Mutation_p.P147H|RPS6KB2_uc001olg.2_Missense_Mutation_p.P347H|RPS6KB2_uc009yrq.2_Missense_Mutation_p.P147H|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Missense_Mutation_p.P178H NM_003952 NP_003943 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 347 AGC-kinase C-terminal. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1) 7 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CCTTTCAGGCCCTGTCTGGTG 0.612 PITPNM1 9600 broad.mit.edu 37 11 67267784 67267784 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:67267784C>T uc001olx.2 - 5 938 c.749G>A c.(748-750)CGC>CAC p.R250H PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.R250H|PITPNM1_uc001olz.2_Missense_Mutation_p.R250H NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 250 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 GGCCAGCATGCGAGCAGTCTC 0.692 C11orf24 53838 broad.mit.edu 37 11 68030283 68030283 + Silent SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:68030283A>C uc001onr.3 - 4 622 c.180T>G c.(178-180)GCT>GCG p.A60A C11orf24_uc001ons.2_Silent_p.A60A NM_022338 NP_071733 Q96F05 CK024_HUMAN hypothetical protein LOC53838 precursor 60 Extracellular (Potential). integral to membrane 0 TGACAGGAGAAGCTGCTGCCA 0.463 DHCR7 1717 broad.mit.edu 37 11 71146457 71146457 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:71146457G>A uc001oqk.2 - 9 1642 c.1392C>T c.(1390-1392)GCC>GCT p.A464A DHCR7_uc001oql.2_Silent_p.A464A NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 464 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) AAGGCACTGCGGCGGTGTAGC 0.647 Smith-Lemli-Opitz_syndrome OR2AT4 341152 broad.mit.edu 37 11 74799925 74799925 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:74799925C>A uc010rro.1 - 1 834 c.834G>T c.(832-834)ATG>ATT p.M278I NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCACATTGCCCATGATATGGA 0.512 TSKU 25987 broad.mit.edu 37 11 76506961 76506961 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:76506961C>G uc001oxt.2 + 2 473 c.301C>G c.(301-303)CCC>GCC p.P101A NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 101 LRR 2. extracellular region 0 Ovarian(111;0.112) CAGCATCTCACCCACTGCCTT 0.632 NARS2 79731 broad.mit.edu 37 11 78285486 78285486 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:78285486G>A uc001ozi.2 - 1 424 c.48C>T c.(46-48)TCC>TCT p.S16S NARS2_uc010rsq.1_Intron NM_024678 NP_078954 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial 16 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding ovary(2) 2 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) GGAAGGGGGCGGAGGAACAGA 0.677 PICALM 8301 broad.mit.edu 37 11 85733455 85733455 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:85733455A>G uc001pbm.2 - 4 693 c.407T>C c.(406-408)GTT>GCT p.V136A PICALM_uc001pbl.2_Missense_Mutation_p.V136A|PICALM_uc001pbn.2_Missense_Mutation_p.V136A|PICALM_uc010rtl.1_Missense_Mutation_p.V85A NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 136 ENTH. clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TCTGTATGAAACTGCTTTCTC 0.269 T MLLT10|MLL TALL|AML| FAT3 120114 broad.mit.edu 37 11 92533395 92533395 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:92533395T>G uc001pdj.3 + 9 7233 c.7216T>G c.(7216-7218)TTA>GTA p.L2406V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2406 Cadherin 22.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGTGAGTGAATTAGCCCCCCG 0.433 TCGA Ovarian(4;0.039) DYNC2H1 79659 broad.mit.edu 37 11 103075616 103075616 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:103075616T>C uc001pho.2 + 52 8521 c.8377T>C c.(8377-8379)TGT>CGT p.C2793R DYNC2H1_uc001phn.1_Missense_Mutation_p.C2793R|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2793 AAA 4 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CATGATAAACTGTGAGAGTAA 0.323 BACE1 23621 broad.mit.edu 37 11 117161685 117161685 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:117161685G>A uc001pqz.2 - 7 1484 c.1023C>T c.(1021-1023)TTC>TTT p.F341F BACE1_uc001pqw.2_Silent_p.F316F|BACE1_uc001pqx.2_Silent_p.F272F|BACE1_uc001pqy.2_Silent_p.F297F|BACE1_uc010rxg.1_Silent_p.F216F|BACE1_uc010rxh.1_Silent_p.F241F|BACE1_uc009yzo.1_Intron|uc010rxi.1_5'Flank NM_012104 NP_036236 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 isoform A 341 Extracellular (Potential). beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding ovary(1) 1 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) AGATGACTGGGAAAATGTTCC 0.552 UBE4A 9354 broad.mit.edu 37 11 118253471 118253471 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:118253471T>C uc001psw.2 + 13 2306 c.2177T>C c.(2176-2178)TTT>TCT p.F726S UBE4A_uc001psv.2_Missense_Mutation_p.F733S NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 726 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) ATCAAGGTTTTTGTGGACATC 0.458 DPAGT1 1798 broad.mit.edu 37 11 118968584 118968584 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:118968584G>A uc001pvi.2 - 6 1318 c.898C>T c.(898-900)CCT>TCT p.P300S H2AFX_uc001pvg.2_5'Flank|H2AFX_uc001pvh.1_5'Flank|DPAGT1_uc001pvj.2_Missense_Mutation_p.P193S|DPAGT1_uc009zaq.2_Intron|DPAGT1_uc001pvk.2_Missense_Mutation_p.P128S|DPAGT1_uc010ryz.1_Missense_Mutation_p.P300S|DPAGT1_uc001pvm.1_3'UTR|DPAGT1_uc010rza.1_Missense_Mutation_p.P193S NM_001382 NP_001373 Q9H3H5 GPT_HUMAN UDP-N-acetylglucosamine-dolichyl-phosphate 300 Cytoplasmic (Potential). dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|ovary(1) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) CGGTGGCGAGGGCAGGGGATG 0.498 RNF26 79102 broad.mit.edu 37 11 119206040 119206040 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:119206040G>A uc001pwh.2 + 1 804 c.208G>A c.(208-210)GAA>AAA p.E70K NM_032015 NP_114404 Q9BY78 RNF26_HUMAN ring finger protein 26 70 Leu-rich. zinc ion binding ovary(1) 1 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) GGCCTTGATCGAAGCCGTGGT 0.592 OR8B4 283162 broad.mit.edu 37 11 124294407 124294407 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:124294407G>A uc010sak.1 - 1 361 c.361C>T c.(361-363)CGC>TGC p.R121C NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GCCACATAGCGATCATAGGCC 0.453 KDM5A 5927 broad.mit.edu 37 12 432830 432830 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:432830G>A uc001qif.1 - 15 2449 c.2086C>T c.(2086-2088)CGG>TGG p.R696W KDM5A_uc001qie.1_Missense_Mutation_p.R696W|KDM5A_uc010sdn.1_Missense_Mutation_p.R655W|KDM5A_uc010sdo.1_Missense_Mutation_p.R315W NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 696 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 CATACAAGCCGCTCAGGATTA 0.438 T NUP98 AML KCNA6 3742 broad.mit.edu 37 12 4919281 4919281 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:4919281C>T uc001qng.2 + 1 940 c.74C>T c.(73-75)GCG>GTG p.A25V NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 25 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CAACAGGATGCGGGAGACTTC 0.682 HNSCC(72;0.22) CD27 939 broad.mit.edu 37 12 6559355 6559355 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:6559355C>T uc001qod.2 + 3 496 c.285C>T c.(283-285)AAC>AAT p.N95N LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'UTR|LOC678655_uc009zem.1_Intron|LOC678655_uc001qof.2_Intron|TAPBPL_uc001qog.3_5'Flank|TAPBPL_uc001qoh.3_5'Flank|TAPBPL_uc001qoi.1_5'Flank NM_001242 NP_001233 P26842 CD27_HUMAN tumor necrosis factor receptor superfamily, 95 Extracellular (Potential).|TNFR-Cys 2. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity 0 TCGTTCGCAACTGCACCATCA 0.582 A2M 2 broad.mit.edu 37 12 9227269 9227269 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:9227269C>T uc001qvk.1 - 29 3756 c.3643G>A c.(3643-3645)GCT>ACT p.A1215T A2M_uc001qvj.1_Missense_Mutation_p.A257T|A2M_uc009zgk.1_Missense_Mutation_p.A1065T NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1215 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GTGAGATAAGCGAGGAGCACA 0.587 STYK1 55359 broad.mit.edu 37 12 10777340 10777340 + Missense_Mutation SNP C C T rs147511596 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:10777340C>T uc001qys.2 - 8 1357 c.836G>A c.(835-837)CGA>CAA p.R279Q NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 279 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 GATGGCCCCTCGGGTGTAAAC 0.502 HNSCC(73;0.22) LRP6 4040 broad.mit.edu 37 12 12334193 12334193 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:12334193C>T uc001rah.3 - 6 1299 c.1157G>A c.(1156-1158)CGT>CAT p.R386H BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R386H NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 386 LDL-receptor class B 6.|Extracellular (Potential).|Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) TATAAATGAACGGCGTATGGC 0.468 GRIN2B 2904 broad.mit.edu 37 12 13716375 13716375 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:13716375G>A uc001rbt.2 - 13 3976 c.3797C>T c.(3796-3798)CCG>CTG p.P1266L NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1266 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) TGGGGCAGCCGGCTGGTCCAG 0.587 GRIN2B 2904 broad.mit.edu 37 12 13768095 13768095 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:13768095A>C uc001rbt.2 - 7 1786 c.1607T>G c.(1606-1608)GTC>GGC p.V536G NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 536 Extracellular (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) TGACACCATGACACTGATGCC 0.517 GRIN2B 2904 broad.mit.edu 37 12 13906806 13906806 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:13906806T>G uc001rbt.2 - 3 634 c.455A>C c.(454-456)CAG>CCG p.Q152P NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 152 Extracellular (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) GGAAGCTTGCTGTTCAATTGA 0.398 SLCO1B3 28234 broad.mit.edu 37 12 21220293 21220293 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:21220293C>T uc010sil.1 + 14 1971 c.1906C>T c.(1906-1908)CAT>TAT p.H636Y LST-3TM12_uc010sim.1_Missense_Mutation_p.H575Y|LST-3TM12_uc010sin.1_Missense_Mutation_p.H528Y Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) AATCGGCTTCCATTCAATGAT 0.279 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:25398284C>T uc001rgp.1 - 2 216 c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) PKP2 5318 broad.mit.edu 37 12 33031100 33031100 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:33031100C>T uc001rlj.3 - 3 829 c.714G>A c.(712-714)CCG>CCA p.P238P PKP2_uc001rlk.3_Silent_p.P238P|PKP2_uc010skj.1_Silent_p.P238P NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 238 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) TGAGCAGGGCCGGGTTGGCAG 0.607 LRRK2 120892 broad.mit.edu 37 12 40645122 40645122 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:40645122G>A uc001rmg.3 + 9 1168 c.1047G>A c.(1045-1047)TGG>TGA p.W349* LRRK2_uc001rmh.1_5'Flank NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 349 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) AATTGTTTTGGCTGGAAGCCT 0.338 OREG0003829 type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay NELL2 4753 broad.mit.edu 37 12 45209887 45209887 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:45209887T>C uc001rog.2 - 3 812 c.217A>G c.(217-219)ACA>GCA p.T73A NELL2_uc001rof.3_Missense_Mutation_p.T72A|NELL2_uc001roh.2_Missense_Mutation_p.T73A|NELL2_uc009zkd.2_Missense_Mutation_p.T72A|NELL2_uc010skz.1_Missense_Mutation_p.T123A|NELL2_uc010sla.1_Missense_Mutation_p.T96A|NELL2_uc001roi.1_Missense_Mutation_p.T73A|NELL2_uc010slb.1_Missense_Mutation_p.T72A|NELL2_uc001roj.2_Missense_Mutation_p.T73A NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 73 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TGTTCAGCTGTAGCAGTGGAT 0.308 ANO6 196527 broad.mit.edu 37 12 45741846 45741846 + Silent SNP C C T rs144883809 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:45741846C>T uc001roo.2 + 5 716 c.381C>T c.(379-381)CAC>CAT p.H127H ANO6_uc010sld.1_Silent_p.H127H|ANO6_uc010sle.1_Silent_p.H127H|ANO6_uc010slf.1_Silent_p.H148H|ANO6_uc010slg.1_Silent_p.H109H NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 127 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 TAAAAGTACACGCACCATGGG 0.378 ZNF641 121274 broad.mit.edu 37 12 48737166 48737166 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:48737166G>A uc001rrn.1 - 6 1072 c.907C>T c.(907-909)CGA>TGA p.R303* ZNF641_uc001rro.1_Nonsense_Mutation_p.R289*|ZNF641_uc010sls.1_Nonsense_Mutation_p.R280* NM_152320 NP_689533 Q96N77 ZN641_HUMAN zinc finger protein 641 303 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 TGATGTCTTCGCCCAAAGGTC 0.522 RHEBL1 121268 broad.mit.edu 37 12 49462855 49462855 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:49462855G>A uc001rtc.1 - 2 294 c.87C>T c.(85-87)GGC>GGT p.G29G RHEBL1_uc001rtd.1_Silent_p.G25G|RHEBL1_uc009zlc.1_RNA NM_144593 NP_653194 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 precursor 29 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding lung(1)|breast(1) 2 CCGAGAACTCGCCTTCCACAA 0.517 DIP2B 57609 broad.mit.edu 37 12 51116998 51116998 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:51116998C>T uc001rwv.2 + 27 3336 c.3180C>T c.(3178-3180)ATC>ATT p.I1060I DIP2B_uc009zlt.2_Silent_p.I490I NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1060 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 TTGAGTTAATCGCCGCCTTCT 0.502 KRT80 144501 broad.mit.edu 37 12 52565273 52565273 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:52565273G>A uc001rzx.2 - 9 1366 c.1268C>T c.(1267-1269)TCC>TTC p.S423F KRT80_uc001rzw.2_Missense_Mutation_p.S458F|KRT80_uc001rzy.2_3'UTR NM_182507 NP_872313 Q6KB66 K2C80_HUMAN keratin 80 isoform a 423 Tail. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.108) CTTCTTTCGGGAGGGGGCCTT 0.567 KRT71 112802 broad.mit.edu 37 12 52946555 52946555 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:52946555G>T uc001sao.2 - 1 377 c.307C>A c.(307-309)CAC>AAC p.H103N NM_033448 NP_258259 Q3SY84 K2C71_HUMAN keratin 71 103 Head. structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.194) GTAACCTGGTGGATGCCTCCA 0.632 KRT73 319101 broad.mit.edu 37 12 53004418 53004418 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:53004418G>A uc001sas.2 - 7 1347 c.1312C>T c.(1312-1314)CTG>TTG p.L438L NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 438 Rod.|Coil 2. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) TCGCCCTCCAGCAGCTTGCGG 0.607 KRT4 3851 broad.mit.edu 37 12 53202626 53202626 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:53202626G>T uc001saz.2 - 5 1336 c.1065C>A c.(1063-1065)TCC>TCA p.S355S NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 281 keratin filament structural molecule activity ovary(4)|skin(2) 6 TCTGCATCTGGGACAGCTCCT 0.567 CSAD 51380 broad.mit.edu 37 12 53564261 53564261 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:53564261G>A uc001sby.2 - 8 719 c.593C>T c.(592-594)GCT>GTT p.A198V CSAD_uc001sbw.2_Missense_Mutation_p.A51V|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.A225V|CSAD_uc001sbz.2_Missense_Mutation_p.A198V|CSAD_uc009zmu.2_Missense_Mutation_p.A51V|CSAD_uc001sca.3_RNA NM_015989 NP_057073 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 198 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity ovary(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CAGAAACGCAGCTCCCTTCTG 0.557 Hereditary_Prostate_Cancer HOXC13 3229 broad.mit.edu 37 12 54333266 54333266 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:54333266G>A uc001sei.2 + 1 691 c.576G>A c.(574-576)TCG>TCA p.S192S HOXC13_uc010sop.1_RNA NM_017410 NP_059106 P31276 HXC13_HUMAN homeobox C13 192 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 TGGACGTGTCGGTGGTGCCCG 0.677 T NUP98 AML CBX5 23468 broad.mit.edu 37 12 54651347 54651347 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:54651347C>T uc001sfh.3 - 2 406 c.88G>A c.(88-90)GTG>ATG p.V30M CBX5_uc001sfk.3_Missense_Mutation_p.V30M|CBX5_uc001sfi.3_Missense_Mutation_p.V30M|CBX5_uc001sfj.3_Missense_Mutation_p.V30M NM_001127322 NP_001120794 P45973 CBX5_HUMAN heterochromatin protein 1-alpha 30 Chromo 1. blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding 0 CCCTTAACCACGCGCCTGTCT 0.483 OR6C6 283365 broad.mit.edu 37 12 55688543 55688543 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:55688543C>T uc010sph.1 - 1 474 c.474G>A c.(472-474)TTG>TTA p.L158L NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 GTCCCATGACCAATGGGGGAA 0.418 ERBB3 2065 broad.mit.edu 37 12 56495520 56495520 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:56495520G>A uc001sjh.2 + 28 3903 c.3710G>A c.(3709-3711)AGC>AAC p.S1237N ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.S594N|ERBB3_uc010sqc.1_Missense_Mutation_p.S1178N|ERBB3_uc009zok.2_Missense_Mutation_p.S502N|ERBB3_uc001sjk.2_Missense_Mutation_p.S478N|ERBB3_uc001sjl.2_Missense_Mutation_p.S357N|PA2G4_uc001sjm.2_5'Flank|PA2G4_uc009zol.2_5'Flank|PA2G4_uc009zom.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 1237 Cytoplasmic (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) TCTCTGGGCAGCACACAGAGT 0.542 R3HDM2 22864 broad.mit.edu 37 12 57660560 57660560 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:57660560C>T uc009zpm.1 - 17 2078 c.2043G>A c.(2041-2043)CAG>CAA p.Q681Q R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Silent_p.Q376Q|R3HDM2_uc001snr.2_Silent_p.Q408Q|R3HDM2_uc001sns.2_Silent_p.Q681Q|R3HDM2_uc001snt.2_Silent_p.Q695Q|R3HDM2_uc009zpn.1_Intron NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 681 Gln-rich. nucleus nucleic acid binding ovary(2) 2 GAGAGGGAGACTGAGGCATCT 0.542 INHBC 3626 broad.mit.edu 37 12 57843751 57843751 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:57843751C>G uc001snv.1 + 2 1132 c.1005C>G c.(1003-1005)AAC>AAG p.N335K NM_005538 NP_005529 P55103 INHBC_HUMAN inhibin beta C chain preproprotein 335 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding 0 GGGACAGCAACATTGTCAAGA 0.567 CYP27B1 1594 broad.mit.edu 37 12 58158285 58158285 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:58158285C>T uc001spz.1 - 6 1164 c.1012G>A c.(1012-1014)GAA>AAA p.E338K CYP27B1_uc001sqa.1_Missense_Mutation_p.E103K|CYP27B1_uc001sqb.1_3'UTR|CYP27B1_uc001sqc.1_3'UTR NM_000785 NP_000776 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, 338 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3) 3 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) GTCTGGACTTCGGGGTGCCGG 0.582 LRRIQ1 84125 broad.mit.edu 37 12 85500378 85500378 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:85500378A>T uc001tac.2 + 15 3473 c.3362A>T c.(3361-3363)CAA>CTA p.Q1121L LRRIQ1_uc001tab.1_Missense_Mutation_p.Q1121L NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1121 LRRCT. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) CCACTTCTTCAAGAAACAAAC 0.328 C12orf50 160419 broad.mit.edu 37 12 88420304 88420304 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:88420304G>A uc001tam.1 - 3 262 c.94C>T c.(94-96)CCT>TCT p.P32S C12orf50_uc001tan.2_Missense_Mutation_p.P86S NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 32 skin(2)|ovary(1) 3 ATATTTCGAGGTTTGCTGTGA 0.378 ANKS1B 56899 broad.mit.edu 37 12 100169377 100169377 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:100169377G>T uc001tge.1 - 7 1327 c.910C>A c.(910-912)CAA>AAA p.Q304K ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.Q270K NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 304 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TGTGTTTCTTGTGTTGCATCT 0.388 ACAD10 80724 broad.mit.edu 37 12 112182513 112182513 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:112182513G>A uc001tsq.2 + 13 1981 c.1781G>A c.(1780-1782)TGG>TAG p.W594* ACAD10_uc001tsp.2_Nonsense_Mutation_p.W594*|ACAD10_uc009zvx.2_Nonsense_Mutation_p.W625*|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 594 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 AACCTGGCGTGGGATTTCGCA 0.498 PTPN11 5781 broad.mit.edu 37 12 112926847 112926847 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:112926847C>T uc001ttx.2 + 13 1847 c.1467C>T c.(1465-1467)GAC>GAT p.D489D NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 493 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 GCGATATTGACGTTCCCAAAA 0.443 Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome RPH3A 22895 broad.mit.edu 37 12 113314620 113314620 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:113314620C>A uc010syl.1 + 13 1482 c.1120C>A c.(1120-1122)CCC>ACC p.P374T RPH3A_uc001ttz.2_Missense_Mutation_p.P374T|RPH3A_uc001tty.2_Missense_Mutation_p.P370T|RPH3A_uc009zwe.1_Missense_Mutation_p.P370T|RPH3A_uc010sym.1_Missense_Mutation_p.P325T|RPH3A_uc001tua.2_Missense_Mutation_p.P134T NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 374 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) CCAGCCACCACCCCCAGAGGA 0.592 OAS3 4940 broad.mit.edu 37 12 113385824 113385824 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:113385824G>C uc001tug.2 + 5 1036 c.949G>C c.(949-951)GCC>CCC p.A317P NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 317 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 GGATTTGCTAGCCCAGGAGGC 0.572 FBXO21 23014 broad.mit.edu 37 12 117612011 117612011 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:117612011T>C uc001twk.2 - 6 914 c.875A>G c.(874-876)CAG>CGG p.Q292R FBXO21_uc001twj.2_Missense_Mutation_p.Q292R|FBXO21_uc009zwq.2_Missense_Mutation_p.Q292R NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 292 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) TATATTTACCTGATGCATATA 0.284 SUDS3 64426 broad.mit.edu 37 12 118828954 118828954 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:118828954C>T uc001twz.2 + 6 523 c.384C>T c.(382-384)TAC>TAT p.Y128Y NM_022491 NP_071936 Q9H7L9 SDS3_HUMAN suppressor of defective silencing 3 128 Potential. chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex histone deacetylase binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACGAAATTACATTAAAGAAA 0.448 SLC15A4 121260 broad.mit.edu 37 12 129293469 129293469 + Silent SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:129293469A>C uc001uhu.2 - 5 1175 c.1122T>G c.(1120-1122)GCT>GCG p.A374A SLC15A4_uc001uhv.2_RNA NM_145648 NP_663623 Q8N697 S15A4_HUMAN solute carrier family 15, member 4 374 Helical; (Potential). oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) GGATGAGCACAGCATCAAACA 0.557 POLE 5426 broad.mit.edu 37 12 133210934 133210934 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:133210934C>A uc001uks.1 - 43 5886 c.5842G>T c.(5842-5844)GAT>TAT p.D1948Y POLE_uc001ukq.1_Missense_Mutation_p.D158Y|POLE_uc001ukr.1_Missense_Mutation_p.D752Y|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1948 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) tcctgctcatcctcTGCTCCC 0.358 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage POLE 5426 broad.mit.edu 37 12 133219578 133219578 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:133219578C>T uc001uks.1 - 36 4600 c.4556G>A c.(4555-4557)CGC>CAC p.R1519H POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.R323H|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1519 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CTGGTTGCTGCGCACCTAGAC 0.672 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage TUBA3C 7278 broad.mit.edu 37 13 19748247 19748247 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:19748247T>G uc009zzj.2 - 5 1158 c.1109A>C c.(1108-1110)AAG>ACG p.K370T NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 370 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCGCTGCACCTTGGCCAGGTC 0.602 GPR12 2835 broad.mit.edu 37 13 27333706 27333706 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:27333706C>A uc010aal.2 - 2 481 c.259G>T c.(259-261)GCT>TCT p.A87S GPR12_uc010tdl.1_Intron NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 87 Helical; Name=2; (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) TCTGCAAGAGCCAGGCTGCCT 0.537 SMAD9 4093 broad.mit.edu 37 13 37446842 37446842 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:37446842T>C uc001uvw.2 - 3 966 c.623A>G c.(622-624)CAC>CGC p.H208R SMAD9_uc001uvx.2_Missense_Mutation_p.H208R|SMAD9_uc010tep.1_Missense_Mutation_p.H38R NM_001127217 NP_001120689 O15198 SMAD9_HUMAN SMAD family member 9 isoform a 208 BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) TCCTGGGGAGTGAGGGTAGCT 0.572 FREM2 341640 broad.mit.edu 37 13 39261866 39261866 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:39261866T>G uc001uwv.2 + 1 694 c.385T>G c.(385-387)TGC>GGC p.C129G NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 129 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCGCTTCCCGTGCGACTTTGG 0.716 DGKH 160851 broad.mit.edu 37 13 42793377 42793377 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:42793377G>A uc001uyl.1 + 27 3246 c.3225G>A c.(3223-3225)TCG>TCA p.S1075S DGKH_uc010tfh.1_Silent_p.S1075S|DGKH_uc001uym.1_Silent_p.S1075S|DGKH_uc010tfi.1_Silent_p.S830S|DGKH_uc010tfj.1_Silent_p.S930S|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.S930S|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 1075 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) AGCTGGAATCGCCACATGAAG 0.408 AKAP11 11215 broad.mit.edu 37 13 42874175 42874175 + Silent SNP G G A rs139837011 by1000genomes TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:42874175G>A uc001uys.1 + 8 1468 c.1293G>A c.(1291-1293)CCG>CCA p.P431P NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 431 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GTGATGCTCCGGATTCTCCTC 0.463 CDADC1 81602 broad.mit.edu 37 13 49852489 49852489 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:49852489A>C uc001vcu.2 + 7 1130 c.1054A>C c.(1054-1056)AGT>CGT p.S352R CDADC1_uc010tgk.1_Missense_Mutation_p.S154R|CDADC1_uc001vcv.2_Intron NM_030911 NP_112173 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 352 hydrolase activity|zinc ion binding upper_aerodigestive_tract(1) 1 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) CTCGTAGAGAAGTTGTGATGG 0.388 PHF11 51131 broad.mit.edu 37 13 50096243 50096243 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:50096243G>T uc001vdb.2 + 6 907 c.570G>T c.(568-570)CAG>CAT p.Q190H PHF11_uc001vdc.2_Missense_Mutation_p.Q151H|PHF11_uc001vdd.2_RNA NM_001040443 NP_001035533 Q9UIL8 PHF11_HUMAN PHD finger protein 11 isoform a 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 0 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) ATCATGTACAGGTAATTTGAC 0.333 INTS6 26512 broad.mit.edu 37 13 52004473 52004473 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:52004473G>C uc001vfk.2 - 4 1000 c.386C>G c.(385-387)ACT>AGT p.T129S INTS6_uc001vfj.2_Missense_Mutation_p.T116S|INTS6_uc001vfl.2_5'UTR NM_012141 NP_036273 Q9UL03 INT6_HUMAN integrator complex subunit 6 isoform a 129 VWFA. snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity ovary(1)|lung(1) 2 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) GCTCCCATCAGTAATTGTGAT 0.363 PCDH9 5101 broad.mit.edu 37 13 67800090 67800090 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:67800090A>G uc001vik.2 - 2 3175 c.2483T>C c.(2482-2484)GTT>GCT p.V828A PCDH9_uc001vil.2_Missense_Mutation_p.V828A|PCDH9_uc010thl.1_Missense_Mutation_p.V828A|PCDH9_uc001vin.3_Missense_Mutation_p.V828A NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 828 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GAAGATCACAACAATGACCAC 0.517 LMO7 4008 broad.mit.edu 37 13 76416988 76416988 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:76416988C>A uc001vjv.2 + 22 4094 c.3334C>A c.(3334-3336)CCT>ACT p.P1112T LMO7_uc010thv.1_Missense_Mutation_p.P1063T|LMO7_uc001vjt.1_Missense_Mutation_p.P1011T|LMO7_uc010thw.1_Missense_Mutation_p.P989T|LMO7_uc001vjw.1_Missense_Mutation_p.P1018T NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 1397 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ATCTTTTAGGCCTGTTGATTC 0.333 SCEL 8796 broad.mit.edu 37 13 78133954 78133954 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:78133954T>C uc001vki.2 + 4 347 c.177T>C c.(175-177)GGT>GGC p.G59G SCEL_uc001vkj.2_Silent_p.G59G|SCEL_uc010thx.1_Silent_p.G59G NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 59 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) AAAATTACGGTAGGGTGGTGC 0.423 RNF219 79596 broad.mit.edu 37 13 79190731 79190731 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:79190731G>T uc001vkw.1 - 6 1224 c.1165C>A c.(1165-1167)CCT>ACT p.P389T uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.P199T|RNF219_uc010afc.2_Intron NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 389 zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GGAGTACAAGGAGCTGGAAGA 0.428 ABCC4 10257 broad.mit.edu 37 13 95839089 95839089 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:95839089C>T uc001vmd.3 - 11 1530 c.1411G>A c.(1411-1413)GTG>ATG p.V471M ABCC4_uc010afk.2_Missense_Mutation_p.V471M|ABCC4_uc001vme.2_Missense_Mutation_p.V471M|ABCC4_uc010tih.1_Missense_Mutation_p.V396M|ABCC4_uc001vmf.2_Missense_Mutation_p.V428M|ABCC4_uc010afl.1_Missense_Mutation_p.V428M|ABCC4_uc010afm.1_Missense_Mutation_p.V484M NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 471 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CTTCCATGCACGCTGACCAGC 0.468 MYO16 23026 broad.mit.edu 37 13 109507879 109507879 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:109507879G>A uc001vqt.1 + 11 1397 c.1271G>A c.(1270-1272)CGC>CAC p.R424H MYO16_uc010agk.1_Missense_Mutation_p.R446H|MYO16_uc001vqu.1_Missense_Mutation_p.R224H NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 424 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ATTCAGAAGCGCTTTGGGAAC 0.478 SOX1 6656 broad.mit.edu 37 13 112722172 112722172 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:112722172G>A uc001vsb.1 + 1 260 c.200G>A c.(199-201)CGC>CAC p.R67H NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 67 HMG box. chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) GGGCAGCGGCGCAAGATGGCC 0.552 RNASE9 390443 broad.mit.edu 37 14 21025068 21025068 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:21025068G>A uc010aho.2 - 4 320 c.161C>T c.(160-162)ACA>ATA p.T54I RNASE9_uc001vxq.3_Missense_Mutation_p.T59I|RNASE9_uc010ahp.2_Missense_Mutation_p.T59I|RNASE9_uc010ahq.2_Missense_Mutation_p.T59I|RNASE9_uc010ahr.2_Missense_Mutation_p.T59I|RNASE9_uc010ahs.2_Missense_Mutation_p.T54I|RNASE9_uc010aht.2_Missense_Mutation_p.T54I|RNASE9_uc010ahu.2_Missense_Mutation_p.T54I NM_001110357 NP_001103827 P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 54 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(2) 2 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) GGCGGGCCCTGTACTAAAAAA 0.388 RNASE12 493901 broad.mit.edu 37 14 21058544 21058544 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:21058544G>A uc001vxt.2 - 1 439 c.339C>T c.(337-339)GGC>GGT p.G113G RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank NM_001024822 NP_001019993 Q5GAN4 RNS12_HUMAN ribonuclease, RNase A family, 12 (non-active) 113 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(95;0.00238) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.013) GGTATCTTGTGCCTTCAATGA 0.463 LRRC16B 90668 broad.mit.edu 37 14 24528103 24528103 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:24528103C>T uc001wlj.2 + 19 1636 c.1479C>T c.(1477-1479)TTC>TTT p.F493F NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 493 LRR 9. ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) CACCAGGGTTCGACTCGGACC 0.597 OREG0022615 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LRRC16B 90668 broad.mit.edu 37 14 24530829 24530829 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:24530829A>G uc001wlj.2 + 27 2585 c.2428A>G c.(2428-2430)ATC>GTC p.I810V LRRC16B_uc001wlk.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 810 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) CCGGAACTTCATCCGAGGGGC 0.602 HEATR5A 25938 broad.mit.edu 37 14 31856489 31856489 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:31856489C>T uc001wrf.3 - 2 224 c.147G>A c.(145-147)CCG>CCA p.P49P HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Silent_p.P342P NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 336 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TAGGGTGTGACGGTGACGCAA 0.433 ARHGAP5 394 broad.mit.edu 37 14 32563365 32563365 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:32563365G>A uc001wrl.2 + 2 3729 c.3490G>A c.(3490-3492)GCC>ACC p.A1164T ARHGAP5_uc001wrm.2_Missense_Mutation_p.A1164T|ARHGAP5_uc001wrn.2_Missense_Mutation_p.A1164T|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 1164 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GTTTAGTAAAGCCAAGTCATA 0.368 INSM2 84684 broad.mit.edu 37 14 36005050 36005050 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:36005050C>T uc001wth.1 + 1 1803 c.1592C>T c.(1591-1593)CCG>CTG p.P531L NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 531 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) AAGCACTGCCCGTCCACTTTT 0.627 SEC23A 10484 broad.mit.edu 37 14 39509940 39509940 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:39509940C>T uc001wup.1 - 18 2361 c.2138G>A c.(2137-2139)AGC>AAC p.S713N SEC23A_uc010tqa.1_Missense_Mutation_p.S599N|SEC23A_uc010tqb.1_Missense_Mutation_p.S684N NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 713 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) ACTTACCTGGCTGCCTCCATG 0.418 SEC23A 10484 broad.mit.edu 37 14 39517897 39517897 + Missense_Mutation SNP T T G rs148087647 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:39517897T>G uc001wup.1 - 15 1919 c.1696A>C c.(1696-1698)AGT>CGT p.S566R SEC23A_uc010tqa.1_Missense_Mutation_p.S428R|SEC23A_uc010tqb.1_Missense_Mutation_p.S537R NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 566 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) CTGAAGGAACTTGGGTCATCT 0.259 FSCB 84075 broad.mit.edu 37 14 44974445 44974445 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:44974445T>G uc001wvn.2 - 1 2055 c.1746A>C c.(1744-1746)GAA>GAC p.E582D NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 582 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CAGTGGTCTCTTCACCTGATG 0.532 FAM179B 23116 broad.mit.edu 37 14 45478227 45478227 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:45478227A>G uc001wvv.2 + 6 3225 c.3016A>G c.(3016-3018)ACG>GCG p.T1006A FAM179B_uc001wvw.2_Missense_Mutation_p.T1006A|FAM179B_uc010anc.2_Intron NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 1006 Ser-rich. binding skin(2)|upper_aerodigestive_tract(1) 3 GCTCGACTTGACGATGGACTC 0.438 FANCM 57697 broad.mit.edu 37 14 45628389 45628389 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:45628389T>G uc001wwd.3 + 9 1586 c.1487T>G c.(1486-1488)CTT>CGT p.L496R FANCM_uc001wwc.2_Missense_Mutation_p.L496R|FANCM_uc010anf.2_Missense_Mutation_p.L470R|FANCM_uc001wwe.3_Missense_Mutation_p.L101R NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 496 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 GCAGAAATGCTTTCACAGCAT 0.398 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia SPTB 6710 broad.mit.edu 37 14 65261234 65261234 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:65261234G>T uc001xht.2 - 12 1800 c.1746C>A c.(1744-1746)GAC>GAA p.D582E SPTB_uc001xhr.2_Missense_Mutation_p.D582E|SPTB_uc001xhs.2_Missense_Mutation_p.D582E|SPTB_uc001xhu.2_Missense_Mutation_p.D582E NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 582 Spectrin 3. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCTTCACTTTGTCCCCTTGGA 0.542 GALNTL1 57452 broad.mit.edu 37 14 69791495 69791495 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:69791495G>A uc010aqu.1 + 3 515 c.422G>A c.(421-423)CGC>CAC p.R141H GALNTL1_uc001xla.1_Missense_Mutation_p.R141H|GALNTL1_uc001xlb.1_Missense_Mutation_p.R141H NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 141 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) ACCCTGCTGCGCACAGTGAAG 0.602 PAPLN 89932 broad.mit.edu 37 14 73730934 73730934 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:73730934C>T uc010ttx.1 + 20 3040 c.2877C>T c.(2875-2877)TTC>TTT p.F959F PAPLN_uc001xnw.3_Silent_p.F932F|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.F943F|PAPLN_uc010arm.2_Silent_p.F158F|PAPLN_uc010arn.2_Silent_p.F159F NM_173462 NP_775733 O95428 PPN_HUMAN papilin 959 Ig-like C2-type 1. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GGCTGCAGTTCGACGGATCCC 0.652 TRIP11 9321 broad.mit.edu 37 14 92472015 92472015 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:92472015G>T uc001xzy.2 - 11 3093 c.2305C>A c.(2305-2307)CAA>AAA p.Q769K TRIP11_uc010auf.1_Missense_Mutation_p.Q505K NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 769 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TCTTTCTTTTGATTGAGTTTA 0.333 T PDGFRB AML TRIP11 9321 broad.mit.edu 37 14 92472025 92472025 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:92472025A>G uc001xzy.2 - 11 3083 c.2295T>C c.(2293-2295)ATT>ATC p.I765I TRIP11_uc010auf.1_Silent_p.I501I NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 765 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) GATTGAGTTTAATTAAATGCT 0.338 T PDGFRB AML GOLGA5 9950 broad.mit.edu 37 14 93264325 93264325 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:93264325C>T uc001yaz.1 + 2 725 c.543C>T c.(541-543)CAC>CAT p.H181H NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 181 Cytoplasmic (Potential). Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) GCCAAACCCACGGTAGTTAAT 0.398 T RET papillary thyroid ITPK1 3705 broad.mit.edu 37 14 93483104 93483104 + Missense_Mutation SNP C C A rs143953605 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:93483104C>A uc001ybg.2 - 4 452 c.163G>T c.(163-165)GTC>TTC p.V55F ITPK1_uc001ybe.2_Missense_Mutation_p.V55F|ITPK1_uc001ybf.2_5'UTR|ITPK1_uc001ybh.2_Missense_Mutation_p.V55F NM_014216 NP_055031 Q13572 ITPK1_HUMAN inositol 1,3,4-triphosphate 5/6 kinase isoform 55 blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding 0 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) TGGATGATGACGTCCAGGGGG 0.582 BAG5 9529 broad.mit.edu 37 14 104026975 104026975 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:104026975G>C uc001yni.1 - 2 761 c.527C>G c.(526-528)TCC>TGC p.S176C KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.S217C|BAG5_uc001ynj.1_Missense_Mutation_p.S176C|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank NM_004873 NP_004864 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 isoform b 176 apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding ovary(2) 2 Melanoma(154;0.155) Epithelial(46;0.144) TGCATCCTCGGAAAGCGGCAG 0.493 ZFYVE21 79038 broad.mit.edu 37 14 104194223 104194223 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:104194223C>T uc001yoc.2 + 3 364 c.330C>T c.(328-330)TAC>TAT p.Y110Y ZFYVE21_uc001yod.2_Silent_p.Y110Y NM_024071 NP_076976 Q9BQ24 ZFY21_HUMAN zinc finger, FYVE domain containing 21 110 cytoplasmic membrane-bounded vesicle|focal adhesion metal ion binding 0 Melanoma(154;0.226) Epithelial(152;0.245) CGGAGTTCTACGACAAGCAGC 0.672 PPP1R13B 23368 broad.mit.edu 37 14 104205315 104205315 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:104205315G>A uc001yof.1 - 13 2921 c.2638C>T c.(2638-2640)CAC>TAC p.H880Y PPP1R13B_uc010awv.1_RNA NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 880 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) CTCAGCCCGTGCCCCGTCCGC 0.552 MAGEL2 54551 broad.mit.edu 37 15 23890249 23890249 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:23890249G>A uc001ywj.3 - 1 927 c.832C>T c.(832-834)CGC>TGC p.R278C NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TTGCCGGAGCGGCGTGGCGGC 0.652 UBE3A 7337 broad.mit.edu 37 15 25616247 25616247 + Silent SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:25616247T>A uc001zaq.2 - 4 1083 c.1083A>T c.(1081-1083)CTA>CTT p.L361L uc001zae.2_Intron|UBE3A_uc001zar.2_Silent_p.L338L|UBE3A_uc001zas.2_Silent_p.L358L|UBE3A_uc001zat.2_Silent_p.L338L NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 361 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) CATCATTCACTAGATTTCGAC 0.378 ATP10A 57194 broad.mit.edu 37 15 25953353 25953353 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:25953353G>A uc010ayu.2 - 11 2545 c.2439C>T c.(2437-2439)ATC>ATT p.I813I NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 813 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) CTCTCTTGGCGATGCACAAGG 0.582 MAPKBP1 23005 broad.mit.edu 37 15 42105153 42105153 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:42105153C>T uc001zok.3 + 8 959 c.673C>T c.(673-675)CTG>TTG p.L225L MAPKBP1_uc001zoj.3_Silent_p.L225L|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Silent_p.L225L|MAPKBP1_uc010udb.1_Silent_p.L113L|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 225 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCGCTCAGGGCTGCTGGGAGA 0.607 PLA2G4F 255189 broad.mit.edu 37 15 42434768 42434768 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:42434768A>C uc001zoz.2 - 19 2350 c.2287T>G c.(2287-2289)TTC>GTC p.F763V PLA2G4F_uc010bcq.2_Missense_Mutation_p.F60V|PLA2G4F_uc001zoy.2_Missense_Mutation_p.F395V|PLA2G4F_uc010bcr.2_Missense_Mutation_p.F514V|PLA2G4F_uc001zpa.2_Missense_Mutation_p.F514V|PLA2G4F_uc010bcs.2_Missense_Mutation_p.F550V NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 763 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ACCAGGGGGAAGTGCAGCACA 0.632 VPS13C 54832 broad.mit.edu 37 15 62214654 62214654 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:62214654G>A uc002agz.2 - 54 6991 c.6917C>T c.(6916-6918)TCA>TTA p.S2306L VPS13C_uc002aha.2_Missense_Mutation_p.S2263L|VPS13C_uc002ahb.1_Missense_Mutation_p.S2306L|VPS13C_uc002ahc.1_Missense_Mutation_p.S2263L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2306 protein localization ovary(2) 2 AATATTTCCTGAAAACTTAGA 0.393 CILP 8483 broad.mit.edu 37 15 65495770 65495770 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:65495770G>A uc002aon.2 - 7 1139 c.958C>T c.(958-960)CGG>TGG p.R320W NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 320 Ig-like C2-type. negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CCAGCTCTCCGTGCTTTTGTC 0.493 ZWILCH 55055 broad.mit.edu 37 15 66829594 66829594 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:66829594T>C uc002aqb.2 + 16 1813 c.1567T>C c.(1567-1569)TAT>CAT p.Y523H ZWILCH_uc010bhu.1_Missense_Mutation_p.Y409H|ZWILCH_uc002aqa.2_Missense_Mutation_p.Y409H|ZWILCH_uc010bhv.2_Missense_Mutation_p.Y409H NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Zwilch 523 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding ovary(1) 1 AAAGAACTTATATCAAAGGTA 0.204 PARP6 56965 broad.mit.edu 37 15 72552998 72552998 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:72552998T>C uc002auc.2 - 9 1036 c.577A>G c.(577-579)ATG>GTG p.M193V PARP6_uc002aua.2_Missense_Mutation_p.M58V|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.M193V NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 193 NAD+ ADP-ribosyltransferase activity 0 CCTTTCAGCATGGAGTCCTGT 0.507 SNX33 257364 broad.mit.edu 37 15 75942116 75942116 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:75942116G>A uc002bau.2 + 1 769 c.673G>A c.(673-675)GCC>ACC p.A225T IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 225 cell communication phosphatidylinositol binding|protein binding ovary(1) 1 CCAGTGGAAGGCCAATCCCCA 0.547 FAH 2184 broad.mit.edu 37 15 80450431 80450431 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:80450431C>T uc002bfj.2 + 3 193 c.111C>T c.(109-111)GGC>GGT p.G37G FAH_uc002bfk.1_Silent_p.G37G|FAH_uc002bfm.1_Silent_p.G37G|FAH_uc002bfn.1_5'UTR|FAH_uc010unl.1_Silent_p.G37G|FAH_uc002bfl.1_Silent_p.G37G NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 37 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 TGGCCATTGGCGACCAGATCC 0.527 Tyrosinemia_type_1 KIAA1199 57214 broad.mit.edu 37 15 81201537 81201537 + Missense_Mutation SNP G G A rs147046826 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:81201537G>A uc002bfw.1 + 13 1947 c.1687G>A c.(1687-1689)GGT>AGT p.G563S KIAA1199_uc010unn.1_Missense_Mutation_p.G563S NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 563 HFHLAGD -> TRPPTRP (in Ref. 5; CAB94391). upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CCACCTGGCCGGTGATGTAGA 0.547 TMC3 342125 broad.mit.edu 37 15 81650758 81650758 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:81650758G>A uc002bgo.1 - 6 585 c.585C>T c.(583-585)ACC>ACT p.T195T TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.T195T NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 195 Helical; (Potential). integral to membrane ovary(1)|liver(1) 2 GAGACCAGACGGTGTCCAGGT 0.567 BNC1 646 broad.mit.edu 37 15 83932879 83932879 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:83932879T>G uc002bjt.1 - 4 1212 c.1124A>C c.(1123-1125)CAC>CCC p.H375P BNC1_uc010uos.1_Missense_Mutation_p.H363P NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 375 C2H2-type 1. epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GGCATTGTAGTGGATTTTGAG 0.502 NTRK3 4916 broad.mit.edu 37 15 88679770 88679770 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:88679770G>A uc002bme.1 - 7 855 c.693C>T c.(691-693)TGC>TGT p.C231C NTRK3_uc002bmh.2_Silent_p.C231C|NTRK3_uc002bmf.1_Silent_p.C231C|NTRK3_uc010upl.1_Silent_p.C133C|NTRK3_uc010bnh.1_Silent_p.C231C|NTRK3_uc002bmg.2_Silent_p.C231C NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 231 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CAGAGCCATTGCAAGTGATAA 0.552 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) FBXL16 146330 broad.mit.edu 37 16 744686 744686 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:744686G>C uc002cjc.2 - 6 1442 c.1239C>G c.(1237-1239)TTC>TTG p.F413L FBXL16_uc002cja.2_Missense_Mutation_p.S165W|FBXL16_uc002cjb.2_Missense_Mutation_p.F201L NM_153350 NP_699181 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 413 LRR 6. 0 Hepatocellular(780;0.0218) GCTTCAGCCCGAAGTCTTGCA 0.652 NARFL 64428 broad.mit.edu 37 16 789666 789666 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:789666C>T uc002cjr.2 - 2 151 c.139G>A c.(139-141)GGG>AGG p.G47R NARFL_uc002cjp.2_5'Flank|NARFL_uc002cjq.2_5'UTR|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_Missense_Mutation_p.G47R|NARFL_uc010uur.1_Missense_Mutation_p.G47R NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 47 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) AAGTAGCTCCCGTCATCTTCA 0.532 CLCN7 1186 broad.mit.edu 37 16 1498392 1498392 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:1498392G>A uc002clv.2 - 21 2087 c.1977C>T c.(1975-1977)AAC>AAT p.N659N CLCN7_uc010brq.1_Silent_p.N29N|CLCN7_uc002clu.2_Silent_p.N107N|CLCN7_uc002clw.2_Silent_p.N635N NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 659 Cytoplasmic (By similarity).|CBS 1.|ATP (By similarity). integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) CGGGGAAGCCGTTGTGATTGG 0.627 CASKIN1 57524 broad.mit.edu 37 16 2239107 2239107 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:2239107G>A uc010bsg.1 - 6 570 c.538C>T c.(538-540)CGG>TGG p.R180W NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 180 signal transduction cytoplasm skin(2) 2 TCTCCCGGCCGGGGCTCCAGC 0.652 CASKIN1 57524 broad.mit.edu 37 16 2240163 2240163 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:2240163G>A uc010bsg.1 - 3 187 c.155C>T c.(154-156)GCT>GTT p.A52V NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 52 ANK 1. signal transduction cytoplasm skin(2) 2 ATGGTGCAGAGCCGAGAAGCT 0.647 NTN3 4917 broad.mit.edu 37 16 2522136 2522136 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:2522136C>T uc002cqj.2 + 1 637 c.434C>T c.(433-435)GCC>GTC p.A145V NM_006181 NP_006172 O00634 NET3_HUMAN netrin 3 precursor 145 Laminin N-terminal. axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation proteinaceous extracellular matrix central_nervous_system(1) 1 CGCAGCTGGGCCCCGCTGGGC 0.667 ADCY9 115 broad.mit.edu 37 16 4057518 4057518 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:4057518A>T uc002cvx.2 - 3 2274 c.1735T>A c.(1735-1737)TCT>ACT p.S579T NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 579 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 CTGCAGCGAGACTCCTTGGCT 0.527 TXNDC11 51061 broad.mit.edu 37 16 11794372 11794372 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:11794372G>C uc010buu.1 - 7 985 c.923C>G c.(922-924)GCG>GGG p.A308G TXNDC11_uc002dbg.1_Missense_Mutation_p.A281G NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 308 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 TACCAGTTTCGCAAGATGTTT 0.333 ABCC6 368 broad.mit.edu 37 16 16297439 16297439 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:16297439C>T uc002den.3 - 8 863 c.826G>A c.(826-828)GGC>AGC p.G276S ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.G288S NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 276 Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCACTGCCGCCTTTCCTTTTA 0.582 MVP 9961 broad.mit.edu 37 16 29845368 29845368 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:29845368C>T uc002dui.2 + 5 642 c.558C>T c.(556-558)GAC>GAT p.D186D uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Silent_p.D186D|MVP_uc010vea.1_Translation_Start_Site NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein 186 MVP 4. mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 GGGACCGGGACGGCAAGGAGA 0.647 ZNF267 10308 broad.mit.edu 37 16 31925888 31925888 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:31925888T>C uc002ecs.3 + 4 527 c.318T>C c.(316-318)TGT>TGC p.C106C NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 106 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 ATGGGAGCTGTGATCTTGAGA 0.378 C16orf78 123970 broad.mit.edu 37 16 49433085 49433085 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:49433085T>G uc002efr.2 + 5 737 c.694T>G c.(694-696)TTG>GTG p.L232V NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN hypothetical protein LOC123970 232 central_nervous_system(1) 1 CTTGCTCAAGTTGTGCAAGGA 0.483 CDH11 1009 broad.mit.edu 37 16 65005503 65005503 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:65005503A>G uc002eoi.2 - 11 2055 c.1621T>C c.(1621-1623)TTC>CTC p.F541L CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.F541L|CDH11_uc010vin.1_Missense_Mutation_p.F415L NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 541 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CTGACTGTGAAATTTGGATTG 0.413 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) NUTF2 10204 broad.mit.edu 37 16 67899125 67899125 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:67899125C>T uc002eup.2 + 2 191 c.92C>T c.(91-93)GCA>GTA p.A31V NUTF2_uc010vkf.1_Missense_Mutation_p.A31V NM_005796 NP_005787 P61970 NTF2_HUMAN nuclear transport factor 2 31 NTF2. protein transport cytosol|nuclear pore protein binding|transporter activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129) CAACTAGGCGCAATTTACGTA 0.468 EDC4 23644 broad.mit.edu 37 16 67917602 67917602 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:67917602T>C uc002eur.2 + 28 4147 c.3981T>C c.(3979-3981)TCT>TCC p.S1327S EDC4_uc010cer.2_Silent_p.S946S|EDC4_uc002eus.2_Silent_p.S1057S|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 1327 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) AGCTGGCATCTGACCTTGGCA 0.597 OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DHX38 9785 broad.mit.edu 37 16 72131582 72131582 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:72131582G>A uc002fcb.2 + 4 873 c.518G>A c.(517-519)CGG>CAG p.R173Q DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_Intron NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 173 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) ATAGATGAGCGGGATAGAAGT 0.502 ZFHX3 463 broad.mit.edu 37 16 72829238 72829238 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:72829238C>G uc002fck.2 - 9 8016 c.7343G>C c.(7342-7344)GGA>GCA p.G2448A ZFHX3_uc002fcl.2_Missense_Mutation_p.G1534A NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2448 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CTTTGGTTGTCCTTGCTTTTC 0.562 ADAMTS18 170692 broad.mit.edu 37 16 77398116 77398116 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:77398116A>T uc002ffc.3 - 5 1360 c.941T>A c.(940-942)GTC>GAC p.V314D ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_Missense_Mutation_p.V10D|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 314 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GTATGTGGTGACATTTCCCTT 0.458 CDH13 1012 broad.mit.edu 37 16 83159001 83159001 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:83159001A>T uc002fgx.2 + 4 498 c.378A>T c.(376-378)AAA>AAT p.K126N CDH13_uc010chh.2_Missense_Mutation_p.K126N|CDH13_uc010vns.1_Missense_Mutation_p.K173N|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Intron NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 126 adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ATATATTTAAATTTGCAAGAA 0.383 NECAB2 54550 broad.mit.edu 37 16 84030847 84030847 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:84030847C>T uc002fhd.2 + 9 839 c.822C>T c.(820-822)CGC>CGT p.R274R NECAB2_uc002fhe.2_Silent_p.R191R NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 274 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 TGCAGCAGCGCCTGTCAGATG 0.602 FOXL1 2300 broad.mit.edu 37 16 86612679 86612679 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:86612679C>T uc002fjr.2 + 1 565 c.350C>T c.(349-351)CCG>CTG p.P117L NM_005250 NP_005241 Q12952 FOXL1_HUMAN forkhead box L1 117 Fork-head. brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 AAAGGGCGGCCGGGCAAGGGC 0.667 VPS53 55275 broad.mit.edu 37 17 534812 534812 + Missense_Mutation SNP G G A rs138639431 by1000genomes TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:534812G>A uc002frn.2 - 8 812 c.665C>T c.(664-666)GCG>GTG p.A222V VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Missense_Mutation_p.A222V|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.A193V|VPS53_uc002fro.2_Missense_Mutation_p.A24V|VPS53_uc010cjp.1_Intron NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 222 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GGAAGGAAACGCTTCTTCAAA 0.502 TRPV3 162514 broad.mit.edu 37 17 3458106 3458106 + Silent SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:3458106G>C uc002fvt.1 - 2 361 c.39C>G c.(37-39)GGC>GGG p.G13G TRPV3_uc010vrj.1_5'UTR|TRPV3_uc010vrk.1_RNA|TRPV3_uc002fvr.2_Silent_p.G13G|TRPV3_uc002fvu.2_Silent_p.G13G NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 13 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) CAACTCTCTTGCCCATGAGAG 0.622 FAM64A 54478 broad.mit.edu 37 17 6350927 6350927 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:6350927G>A uc002gcw.1 + 3 488 c.439G>A c.(439-441)GCC>ACC p.A147T FAM64A_uc002gct.1_Missense_Mutation_p.A147T|FAM64A_uc002gcu.1_Missense_Mutation_p.A147T|FAM64A_uc002gcv.1_Missense_Mutation_p.A178T|FAM64A_uc002gcx.1_Missense_Mutation_p.A147T|FAM64A_uc002gcy.1_RNA|FAM64A_uc002gcz.1_RNA|FAM64A_uc002gda.1_Missense_Mutation_p.A147T|FAM64A_uc002gdb.1_Missense_Mutation_p.A147T NM_019013 NP_061886 Q9BSJ6 FA64A_HUMAN family with sequence similarity 64, member A 147 nucleolus protein binding 0 COAD - Colon adenocarcinoma(228;0.141) GTCTGGAGCCGCCCCTGCCCA 0.652 TEKT1 83659 broad.mit.edu 37 17 6716254 6716254 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:6716254C>T uc002gdt.2 - 6 858 c.748G>A c.(748-750)GCC>ACC p.A250T TEKT1_uc010vth.1_Missense_Mutation_p.A104T NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 250 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) AGATCATTGGCTGTCTGGGAC 0.542 TEKT1 83659 broad.mit.edu 37 17 6716369 6716369 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:6716369G>A uc002gdt.2 - 6 743 c.633C>T c.(631-633)TCC>TCT p.S211S TEKT1_uc010vth.1_Silent_p.S65S NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 211 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) CCAGACTCACGGAGCTGAAAC 0.542 KDM6B 23135 broad.mit.edu 37 17 7754383 7754383 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:7754383G>A uc002giw.1 + 14 4094 c.3718G>A c.(3718-3720)GAA>AAA p.E1240K KDM6B_uc002gix.2_Missense_Mutation_p.E542K NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1240 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 AGCGAGTGGCGAACACACCGT 0.627 GUCY2D 3000 broad.mit.edu 37 17 7917215 7917215 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:7917215C>T uc002gjt.2 + 12 2355 c.2281C>T c.(2281-2283)CGG>TGG p.R761W NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 761 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) GCAGAGGGTGCGGAGCCCCCC 0.622 MYH1 4619 broad.mit.edu 37 17 10402102 10402102 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:10402102C>T uc002gmo.2 - 30 4116 c.4022G>A c.(4021-4023)CGC>CAC p.R1341H uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1341 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 ACAGTCATGGCGGGAGGACTG 0.502 SREBF1 6720 broad.mit.edu 37 17 17723594 17723594 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:17723594C>T uc002gru.1 - 2 527 c.333G>A c.(331-333)CCG>CCA p.P111P SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Silent_p.P87P|SREBF1_uc002grt.1_Silent_p.P141P|SREBF1_uc010cpp.1_Silent_p.P87P|SREBF1_uc010cpq.1_Silent_p.P111P NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 111 Pro/Ser-rich.|Cytoplasmic (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 CGGGCATGGACGGGTACATCT 0.652 SMCR8 140775 broad.mit.edu 37 17 18220056 18220056 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:18220056A>C uc002gsy.3 + 1 1463 c.953A>C c.(952-954)AAG>ACG p.K318T NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 318 central_nervous_system(1) 1 TTTGACAAGAAGTTGAAGACC 0.483 USP22 23326 broad.mit.edu 37 17 20921343 20921343 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:20921343C>T uc002gym.3 - 5 806 c.602G>A c.(601-603)CGG>CAG p.R201Q USP22_uc002gyn.3_Missense_Mutation_p.R189Q|USP22_uc002gyl.3_Missense_Mutation_p.R96Q NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN ubiquitin thiolesterase 22 201 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 GAAGAAGTCCCGCAGAAGTGG 0.567 POLDIP2 26073 broad.mit.edu 37 17 26675234 26675234 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:26675234G>C uc002haz.2 - 14 1148 c.1016C>G c.(1015-1017)CCT>CGT p.P339R POLDIP2_uc010wag.1_RNA NM_015584 NP_056399 Q9Y2S7 PDIP2_HUMAN DNA polymerase delta interacting protein 2 339 ApaG. mitochondrial nucleoid|nucleus 0 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GGAGCCATCAGGTCTTTCAAA 0.542 MYO18A 399687 broad.mit.edu 37 17 27413999 27413999 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:27413999C>G uc002hdt.1 - 38 5825 c.5667G>C c.(5665-5667)GAG>GAC p.E1889D MYO18A_uc010wbc.1_Missense_Mutation_p.E1422D|MYO18A_uc002hds.2_Missense_Mutation_p.E1431D|MYO18A_uc010csa.1_Missense_Mutation_p.E1852D|MYO18A_uc002hdu.1_Missense_Mutation_p.E1889D NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1889 Potential. E -> G (in Ref. 3; CAI45931). anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TCCTGGCAAGCTCGCCCATCT 0.642 MYO18A 399687 broad.mit.edu 37 17 27442109 27442109 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:27442109T>A uc002hdt.1 - 14 2485 c.2327A>T c.(2326-2328)AAG>ATG p.K776M MYO18A_uc010wbc.1_Missense_Mutation_p.K318M|MYO18A_uc002hds.2_Missense_Mutation_p.K318M|MYO18A_uc010csa.1_Missense_Mutation_p.K776M|MYO18A_uc002hdu.1_Missense_Mutation_p.K776M|MYO18A_uc010wbd.1_Missense_Mutation_p.K445M NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 776 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CTGGCTGGACTTGAGAGCCCT 0.652 SSH2 85464 broad.mit.edu 37 17 27958633 27958633 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:27958633G>A uc002heo.1 - 15 3498 c.3498C>T c.(3496-3498)AGC>AGT p.S1166S SSH2_uc010wbh.1_Silent_p.S1193S NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 1166 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TGGAGAGAGGGCTCTCCTGAC 0.517 ZNF207 7756 broad.mit.edu 37 17 30685633 30685633 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:30685633C>G uc002hhh.3 + 3 428 c.280C>G c.(280-282)CGA>GGA p.R94G ZNF207_uc002hhj.3_Missense_Mutation_p.R94G|ZNF207_uc002hhi.3_Missense_Mutation_p.R94G|ZNF207_uc010csz.2_Missense_Mutation_p.R97G|ZNF207_uc002hhk.1_Missense_Mutation_p.R94G|ZNF207_uc002hhl.1_5'Flank NM_003457 NP_003448 O43670 ZN207_HUMAN zinc finger protein 207 isoform a 94 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GGATGAAAGACGACGACTTCT 0.269 LIG3 3980 broad.mit.edu 37 17 33323671 33323671 + Nonsense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:33323671A>T uc002hik.1 + 11 1930 c.1822A>T c.(1822-1824)AGA>TGA p.R608* LIG3_uc002hij.2_Nonsense_Mutation_p.R608* NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 608 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) CTTGATGGACAGGTGAGTTGG 0.443 Other_BER_factors RFFL 117584 broad.mit.edu 37 17 33338995 33338995 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:33338995G>A uc002hin.1 - 7 1257 c.1084C>T c.(1084-1086)CGG>TGG p.R362W RFFL_uc002hiq.2_Missense_Mutation_p.R271W|RFFL_uc002him.1_Missense_Mutation_p.R354W|RFFL_uc010cti.1_Missense_Mutation_p.R368W|RFFL_uc002hip.1_Missense_Mutation_p.R326W|RFFL_uc002hio.1_Missense_Mutation_p.R362W NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 362 apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TCTCAGGACCGGAAGACATGC 0.542 KRTAP9-4 85280 broad.mit.edu 37 17 39406320 39406320 + Nonsense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:39406320C>A uc002hwi.2 + 1 382 c.348C>A c.(346-348)TGC>TGA p.C116* KRTAP9-9_uc010wfq.1_Intron NM_033191 NP_149461 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 116 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCCTGGTTGCCTAAACCAGA 0.612 KRT31 3881 broad.mit.edu 37 17 39551161 39551161 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:39551161G>A uc002hwn.2 - 6 1089 c.1036C>T c.(1036-1038)CGT>TGT p.R346C KRT31_uc010cxn.2_Missense_Mutation_p.R346C NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 346 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) AGCCGGGCACGCACATCCAGC 0.592 GPATCH8 23131 broad.mit.edu 37 17 42541896 42541896 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:42541896C>T uc002igw.1 - 3 201 c.137G>A c.(136-138)CGC>CAC p.R46H GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 46 G-patch. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CTGGAGTAAGCGGTGTCCAAT 0.393 KIAA1267 284058 broad.mit.edu 37 17 44248449 44248449 + Nonsense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:44248449A>T uc002ikb.2 - 1 1146 c.1061T>A c.(1060-1062)TTG>TAG p.L354* KIAA1267_uc002ikc.2_Nonsense_Mutation_p.L354*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.L354*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.L354* NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 354 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) AGCTTTTCTCAAGGCAGCTTC 0.463 KIAA1267 284058 broad.mit.edu 37 17 44248642 44248642 + Nonsense_Mutation SNP G G A rs149830411 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:44248642G>A uc002ikb.2 - 1 953 c.868C>T c.(868-870)CGA>TGA p.R290* KIAA1267_uc002ikc.2_Nonsense_Mutation_p.R290*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.R290*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.R290* NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 290 Potential. MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) TCAGCCTGTCGCCGCAGTAAA 0.488 NSF 4905 broad.mit.edu 37 17 44827207 44827207 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:44827207C>T uc002iku.2 + 18 2081 c.1977C>T c.(1975-1977)AAC>AAT p.N659N NSF_uc010wke.1_Silent_p.N565N|NSF_uc010wkf.1_Silent_p.N565N|NSF_uc010wkg.1_Silent_p.N654N NM_006178 NP_006169 P46459 NSF_HUMAN vesicle-fusing ATPase 659 protein transport|synaptic transmission cytosol ATP binding|metal ion binding ovary(1) 1 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) AAATGCTTAACGCTTTCAGCA 0.458 WNT3 7473 broad.mit.edu 37 17 44846085 44846085 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:44846085C>T uc002ikv.2 - 4 788 c.669G>A c.(667-669)GCG>GCA p.A223A NM_030753 NP_110380 P56703 WNT3_HUMAN wingless-type MMTV integration site family, 223 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) AGTCAGGCTGCGCCCACCAGC 0.602 PHB 5245 broad.mit.edu 37 17 47482484 47482484 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:47482484G>C uc002iox.1 - 7 762 c.689C>G c.(688-690)ACT>AGT p.T230S NM_002634 NP_002625 P35232 PHB_HUMAN prohibitin 230 cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis integral to plasma membrane|mitochondrial inner membrane|nucleoplasm histone deacetylase binding|transcription regulatory region DNA binding 0 all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18) Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) ATCCCCTGCAGTGGCCAGTGA 0.592 C17orf71 55181 broad.mit.edu 37 17 57288479 57288479 + Missense_Mutation SNP G G T rs148740401 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:57288479G>T uc002ixi.2 + 1 1109 c.1067G>T c.(1066-1068)AGG>ATG p.R356M NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 356 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) GACCAACTTAGGAGTCATTGT 0.537 DCAF7 10238 broad.mit.edu 37 17 61660984 61660984 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:61660984G>A uc002jbc.2 + 6 866 c.649G>A c.(649-651)GAA>AAA p.E217K DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Intron NM_005828 NP_005819 P61962 DCAF7_HUMAN WD-repeat protein 217 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding ovary(1) 1 CATCATTTACGAAGACCCACA 0.592 MAP3K3 4215 broad.mit.edu 37 17 61770978 61770978 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:61770978C>T uc002jbg.2 + 16 2041 c.1722C>T c.(1720-1722)GCC>GCT p.A574A MAP3K3_uc002jbe.2_Silent_p.A605A|MAP3K3_uc002jbf.2_Silent_p.A605A|MAP3K3_uc002jbh.2_Silent_p.A601A|MAP3K3_uc010wpo.1_Silent_p.A489A|MAP3K3_uc010wpp.1_Silent_p.A570A NM_002401 NP_002392 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 574 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1) 6 AAGCTATGGCCGCCATCTTCA 0.582 FTSJ3 117246 broad.mit.edu 37 17 61899483 61899483 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:61899483A>G uc002jbz.2 - 13 1414 c.1336T>C c.(1336-1338)TTT>CTT p.F446L FTSJ3_uc002jca.2_Missense_Mutation_p.F446L NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 446 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 TCGGACAGAAATGTGTCTGCT 0.418 BPTF 2186 broad.mit.edu 37 17 65924597 65924597 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:65924597A>T uc002jgf.2 + 16 5939 c.5878A>T c.(5878-5880)ACT>TCT p.T1960S BPTF_uc002jge.2_Missense_Mutation_p.T2086S NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2086 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CTCAGTTACAACTGGAACCAA 0.433 WIPI1 55062 broad.mit.edu 37 17 66446986 66446986 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:66446986C>G uc010dey.2 - 3 307 c.216G>C c.(214-216)GTG>GTC p.V72V WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_5'UTR|WIPI1_uc002jhe.3_RNA NM_017983 NP_060453 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 72 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding 0 TGACTACCACCACCAGGCTGC 0.502 CD300LB 124599 broad.mit.edu 37 17 72518885 72518885 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:72518885C>A uc002jkx.2 - 4 722 c.709G>T c.(709-711)GCC>TCC p.A237S NM_174892 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 200 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(1) 1 CTCTAAGTGGCCATGTCTTTA 0.557 CD300LF 146722 broad.mit.edu 37 17 72700807 72700807 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:72700807G>T uc002jlg.2 - 2 295 c.192C>A c.(190-192)ATC>ATA p.I64I RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Silent_p.I67I|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Silent_p.I64I|CD300LF_uc002jli.2_Silent_p.I67I|CD300LF_uc010wra.1_Silent_p.I64I|CD300LF_uc002jlj.1_Silent_p.I67I NM_139018 NP_620587 Q8TDQ1 CLM1_HUMAN NK inhibitory receptor precursor 64 Ig-like V-type.|Extracellular (Potential). I -> V (in Ref. 5; AAZ81566). integral to membrane|plasma membrane receptor activity upper_aerodigestive_tract(1) 1 TTTTAACAAGGATCTTGCAGT 0.537 CASKIN2 57513 broad.mit.edu 37 17 73498180 73498180 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:73498180C>T uc002joc.2 - 18 3525 c.2975G>A c.(2974-2976)CGG>CAG p.R992Q CASKIN2_uc010wsc.1_Missense_Mutation_p.R910Q NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 992 Pro-rich. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTTGGGCCTCCGCTTAACAGT 0.682 FBF1 85302 broad.mit.edu 37 17 73924169 73924169 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:73924169G>A uc002jqc.2 - 7 617 c.343C>T c.(343-345)CCC>TCC p.P115S FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.P105S|FBF1_uc002jqd.1_Missense_Mutation_p.P115S NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 115 0 GCAGGCTTGGGGTGGTTGGGC 0.537 CCDC40 55036 broad.mit.edu 37 17 78069165 78069165 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:78069165G>A uc010dht.2 + 18 2963 c.2936G>A c.(2935-2937)CGC>CAC p.R979H CCDC40_uc002jxm.3_Missense_Mutation_p.R762H|CCDC40_uc002jxn.3_Missense_Mutation_p.R375H NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 979 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GAGGGGCAGCGCAAGATGGAC 0.637 RNF213 57674 broad.mit.edu 37 17 78358856 78358856 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:78358856G>T uc002jyh.1 + 35 8782 c.8559G>T c.(8557-8559)CTG>CTT p.L2853L uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGCTGAGGCTGGTAAAGTTCC 0.463 AZI1 22994 broad.mit.edu 37 17 79173612 79173612 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:79173612C>A uc002jzp.1 - 9 1130 c.930G>T c.(928-930)GAG>GAT p.E310D AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.E310D|AZI1_uc002jzo.1_Missense_Mutation_p.E310D|AZI1_uc010wum.1_Missense_Mutation_p.E310D NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 310 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) AGAGGGTCCCCTCGCCTGACC 0.627 SLC38A10 124565 broad.mit.edu 37 17 79220832 79220832 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:79220832C>T uc002jzz.1 - 15 2470 c.2095G>A c.(2095-2097)GCC>ACC p.A699T SLC38A10_uc002jzy.1_Missense_Mutation_p.A617T NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 699 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) AGCAGGACGGCGTGGTCCAGC 0.627 NDC80 10403 broad.mit.edu 37 18 2595494 2595494 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:2595494C>T uc002kli.2 + 11 1277 c.1095C>T c.(1093-1095)GAC>GAT p.D365D NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 365 Interaction with the N-terminus of CDCA1.|Interaction with PSMC2 and SMC1A.|Potential.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 CAGTTGCAGACATTGAGCGAA 0.363 TMEM200C 645369 broad.mit.edu 37 18 5892008 5892008 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:5892008G>A uc002kmx.1 - 1 96 c.55C>T c.(55-57)CGC>TGC p.R19C NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 19 integral to membrane 0 CTTGGGGGGCGGAGTGGATCC 0.607 LAMA1 284217 broad.mit.edu 37 18 6955431 6955431 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:6955431C>T uc002knm.2 - 57 8222 c.8128G>A c.(8128-8130)GTT>ATT p.V2710I LAMA1_uc002knk.2_Missense_Mutation_p.V40I|LAMA1_uc002knl.2_Missense_Mutation_p.V163I|LAMA1_uc010wzj.1_Missense_Mutation_p.V2186I NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2710 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGCCGGGAACGTACTCCAGA 0.527 LAMA1 284217 broad.mit.edu 37 18 7024437 7024437 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:7024437C>T uc002knm.2 - 18 2525 c.2431G>A c.(2431-2433)GGA>AGA p.G811R LAMA1_uc010wzj.1_Missense_Mutation_p.G287R NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 811 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTTCATCTCCATCATTGAGG 0.433 LAMA1 284217 broad.mit.edu 37 18 7049125 7049125 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:7049125G>A uc002knm.2 - 5 814 c.720C>T c.(718-720)ACC>ACT p.T240T LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 240 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGGCTAAGGGTCATGAGAT 0.448 VAPA 9218 broad.mit.edu 37 18 9931887 9931887 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:9931887A>G uc002kok.2 + 2 459 c.160A>G c.(160-162)ACA>GCA p.T54A VAPA_uc002koj.2_Missense_Mutation_p.T54A NM_194434 NP_919415 Q9P0L0 VAPA_HUMAN vesicle-associated membrane protein-associated 54 Cytoplasmic (Potential).|MSP. cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity 0 AGTGAAGACTACAGCACCTCG 0.403 APCDD1 147495 broad.mit.edu 37 18 10487638 10487638 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:10487638A>G uc002kom.3 + 5 1502 c.1148A>G c.(1147-1149)AAC>AGC p.N383S NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 383 Extracellular (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) TCACTGCTCAACGTCTTCAAC 0.597 RBBP8 5932 broad.mit.edu 37 18 20586340 20586340 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:20586340C>G uc002ktw.2 + 16 2633 c.2302C>G c.(2302-2304)CAA>GAA p.Q768E RBBP8_uc002kty.2_Missense_Mutation_p.Q768E|RBBP8_uc002ktz.2_Missense_Mutation_p.Q768E|RBBP8_uc002kua.2_Missense_Mutation_p.Q773E|RBBP8_uc010xap.1_Missense_Mutation_p.Q106E NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 768 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TGGTGATAAACAAGACAAAGT 0.338 Direct_reversal_of_damage|Homologous_recombination DSG4 147409 broad.mit.edu 37 18 28979459 28979459 + Silent SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:28979459A>T uc002kwq.2 + 9 1365 c.1230A>T c.(1228-1230)ACA>ACT p.T410T DSG4_uc002kwr.2_Silent_p.T410T NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 410 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) TGCTTGGCACATATACAGCCA 0.398 DSG3 1830 broad.mit.edu 37 18 29038540 29038540 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:29038540C>T uc002kws.2 + 4 458 c.349C>T c.(349-351)CGG>TGG p.R117W NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 117 Extracellular (Potential).|Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TATAGTCGACCGGGAGGAAAC 0.453 TTR 7276 broad.mit.edu 37 18 29178579 29178579 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:29178579G>A uc002kwx.3 + 4 521 c.385G>A c.(385-387)GCC>ACC p.A129T NM_000371 NP_000362 P02766 TTHY_HUMAN transthyretin precursor 129 A -> T (in HTDE; increased affinity for thyroxine). transport cytoplasm hormone activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.00523) Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279) CACCATTGCCGCCCTGCTGAG 0.577 RNF125 54941 broad.mit.edu 37 18 29617149 29617149 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:29617149C>G uc002kxf.1 + 2 617 c.235C>G c.(235-237)CTT>GTT p.L79V NM_017831 NP_060301 Q96EQ8 RN125_HUMAN ring finger protein 125 79 negative regulation of type I interferon production intracellular ligase activity|zinc ion binding 0 CCGGGCATATCTTCCTTCAGA 0.448 DSEL 92126 broad.mit.edu 37 18 65180002 65180002 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:65180002T>C uc002lke.1 - 2 3098 c.1874A>G c.(1873-1875)AAG>AGG p.K625R NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 615 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) ATTCATAAACTTATATGGGAT 0.348 TCF3 6929 broad.mit.edu 37 19 1615428 1615428 + Silent SNP G G A rs1052768 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:1615428G>A uc002ltr.2 - 18 1745 c.1678C>T c.(1678-1680)CTG>TTG p.L560L TCF3_uc002ltn.2_Intron|TCF3_uc002lto.2_Silent_p.L321L|TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Silent_p.L564L|TCF3_uc002lts.1_Intron NM_003200 NP_003191 P15923 TFE2_HUMAN transcription factor 3 isoform E12 560 Basic motif. B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1) 7 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) 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) CGGACCCGCAGCCGCTCCCGG 0.642 T PBX1|HLF|TFPT pre B-ALL JSRP1 126306 broad.mit.edu 37 19 2252963 2252963 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:2252963G>T uc002lvi.1 - 5 511 c.476C>A c.(475-477)CCC>CAC p.P159H JSRP1_uc002lvj.1_Missense_Mutation_p.P159H NM_144616 NP_653217 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 159 Pro-rich. sarcoplasmic reticulum membrane pancreas(1) 1 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) CCAGGGCTCGGGCACACGTGC 0.682 ZNF57 126295 broad.mit.edu 37 19 2917677 2917677 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:2917677G>A uc002lwr.2 + 4 1206 c.1058G>A c.(1057-1059)GGT>GAT p.G353D ZNF57_uc010xha.1_Missense_Mutation_p.G321D NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 353 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) TCATTCCAAGGTCATTTGAGG 0.448 CHAF1A 10036 broad.mit.edu 37 19 4409294 4409294 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:4409294C>T uc002mal.2 + 3 598 c.498C>T c.(496-498)AAC>AAT p.N166N NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 166 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCATTCAGAACGACAAGTTGG 0.527 Chromatin_Structure LRG1 116844 broad.mit.edu 37 19 4538912 4538912 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:4538912C>A uc002mau.2 - 2 95 c.84G>T c.(82-84)CTG>CTT p.L28L PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 precursor 28 extracellular region|membrane ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AGGCTGCCAACAGCAGCAGCA 0.552 ZNF358 140467 broad.mit.edu 37 19 7585755 7585755 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:7585755A>G uc002mgn.2 + 2 1797 c.1627A>G c.(1627-1629)ACT>GCT p.T543A MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 543 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CACTCGTGGCACTGTCAGCCC 0.657 MYO1F 4542 broad.mit.edu 37 19 8612926 8612926 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:8612926G>A uc002mkg.2 - 12 1377 c.1263C>T c.(1261-1263)GCC>GCT p.A421A MYO1F_uc002mkh.2_3'UTR NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 421 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 CCACCTGCTCGGCCTTCAGGG 0.557 ZNF558 148156 broad.mit.edu 37 19 8932690 8932690 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:8932690T>A uc002mkn.1 - 2 339 c.109A>T c.(109-111)AGC>TGC p.S37C ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Missense_Mutation_p.S37C NM_144693 NP_653294 Q96NG5 ZN558_HUMAN zinc finger protein 558 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 CGTAGCCAGCTTGTCAGGAGC 0.537 MUC16 94025 broad.mit.edu 37 19 9076901 9076901 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:9076901A>G uc002mkp.2 - 3 10749 c.10545T>C c.(10543-10545)CAT>CAC p.H3515H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3516 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 TCTGAGATAGATGCCCAGCAG 0.517 MUC16 94025 broad.mit.edu 37 19 9082878 9082878 + Silent SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:9082878A>C uc002mkp.2 - 1 9141 c.8937T>G c.(8935-8937)ACT>ACG p.T2979T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2980 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 CTGTTCCTGAAGTGGGGACTC 0.502 MUC16 94025 broad.mit.edu 37 19 9085752 9085752 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:9085752A>G uc002mkp.2 - 1 6267 c.6063T>C c.(6061-6063)TCT>TCC p.S2021S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2021 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 TGCTTCCAGAAGAGACTGAAT 0.468 ZNF121 7675 broad.mit.edu 37 19 9677679 9677679 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:9677679T>C uc010xkp.1 - 4 342 c.110A>G c.(109-111)GAC>GGC p.D37G ZNF121_uc010dwt.2_Missense_Mutation_p.D37G|ZNF121_uc010xkq.1_Missense_Mutation_p.D37G NM_001008727 NP_001008727 P58317 ZN121_HUMAN zinc finger protein 121 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTCATAAGTGTCCCCTGTATT 0.438 FBXL12 54850 broad.mit.edu 37 19 9921757 9921757 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:9921757G>C uc002mme.2 - 3 1038 c.796C>G c.(796-798)CCA>GCA p.P266A FBXL12_uc002mmd.2_Missense_Mutation_p.P213A|FBXL12_uc002mmf.2_Missense_Mutation_p.P213A|FBXL12_uc002mmg.2_Missense_Mutation_p.P213A|FBXL12_uc002mmh.2_Missense_Mutation_p.P213A NM_017703 NP_060173 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 266 LRR 8. protein binding lung(1)|kidney(1) 2 GGCATTTCTGGGGTGACGAGG 0.662 DNMT1 1786 broad.mit.edu 37 19 10250779 10250779 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:10250779C>T uc002mng.2 - 32 3881 c.3701G>A c.(3700-3702)CGC>CAC p.R1234H DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.R158H|DNMT1_uc010xlc.1_Missense_Mutation_p.R1250H|DNMT1_uc002mnh.2_Missense_Mutation_p.R1129H|DNMT1_uc010xld.1_Missense_Mutation_p.R1234H NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 1234 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CGAATTGAAGCGGTTCATGCC 0.642 YIPF2 78992 broad.mit.edu 37 19 11034007 11034007 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:11034007G>A uc002mqb.2 - 9 1035 c.911C>T c.(910-912)GCG>GTG p.A304V YIPF2_uc002mqc.2_Missense_Mutation_p.A304V NM_024029 NP_076934 Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 304 Lumenal (Potential). integral to membrane|transport vesicle 0 AGGGGACAGCGCGATGTTTGA 0.627 DOCK6 57572 broad.mit.edu 37 19 11363483 11363483 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:11363483G>A uc002mqs.3 - 3 325 c.284C>T c.(283-285)ACG>ATG p.T95M NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 95 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CCCGGGCTCCGTGGTCCGGCA 0.607 ECSIT 51295 broad.mit.edu 37 19 11624073 11624073 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:11624073G>A uc002msb.2 - 4 670 c.536C>T c.(535-537)ACG>ATG p.T179M ECSIT_uc002msa.1_RNA|ECSIT_uc010dyc.1_Missense_Mutation_p.T179M|ECSIT_uc010dyd.2_Missense_Mutation_p.T179M|ECSIT_uc010xma.1_Intron NM_016581 NP_057665 Q9BQ95 ECSIT_HUMAN evolutionarily conserved signaling intermediate 179 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding ovary(1) 1 CAGGAACTCCGTCTCCTTGTT 0.537 ZNF333 84449 broad.mit.edu 37 19 14829686 14829686 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:14829686G>A uc002mzn.2 + 12 1681 c.1547G>A c.(1546-1548)CGG>CAG p.R516Q ZNF333_uc002mzk.3_Missense_Mutation_p.R407Q NM_032433 NP_115809 Q96JL9 ZN333_HUMAN zinc finger protein 333 516 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R516W(1) ovary(1)|central_nervous_system(1)|pancreas(1) 3 AAGCCCTTCCGGACGAGCACT 0.517 EMR2 30817 broad.mit.edu 37 19 14877174 14877174 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:14877174G>A uc002mzp.1 - 7 963 c.507C>T c.(505-507)TCC>TCT p.S169S EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Silent_p.S169S|EMR2_uc002mzo.1_Silent_p.S169S|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 169 EGF-like 4; calcium-binding (Potential).|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GGTTTTGTCCGGAGGTGCATT 0.627 SYDE1 85360 broad.mit.edu 37 19 15224418 15224418 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:15224418C>T uc002nah.1 + 8 1883 c.1852C>T c.(1852-1854)CCC>TCC p.P618S SYDE1_uc002nai.1_Missense_Mutation_p.P551S|SYDE1_uc002naj.1_Missense_Mutation_p.P275S NM_033025 NP_149014 Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 618 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|pancreas(1) 2 TTACTTGCGACCCAAACGACA 0.642 NOTCH3 4854 broad.mit.edu 37 19 15290911 15290911 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:15290911C>T uc002nan.2 - 20 3375 c.3299G>A c.(3298-3300)CGT>CAT p.R1100H NOTCH3_uc002nao.1_Missense_Mutation_p.R1048H NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1100 Extracellular (Potential).|EGF-like 28. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CATATAGCCACGGCAGGTCCC 0.642 MAST3 23031 broad.mit.edu 37 19 18252811 18252811 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:18252811G>A uc002nhz.3 + 20 2238 c.2238G>A c.(2236-2238)CTG>CTA p.L746L NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 746 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 GCCGCCGGCTGAGTGCTGACA 0.597 ISYNA1 51477 broad.mit.edu 37 19 18546466 18546466 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:18546466C>T uc002njd.1 - 9 1211 c.1161G>A c.(1159-1161)CCG>CCA p.P387P ISYNA1_uc002nja.1_Silent_p.P259P|ISYNA1_uc002njb.1_Silent_p.P305P|ISYNA1_uc002njc.1_Silent_p.P237P|ISYNA1_uc010xqh.1_Silent_p.P185P|ISYNA1_uc002nje.1_Silent_p.P333P|ISYNA1_uc002njf.1_Silent_p.P237P NM_016368 NP_057452 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 387 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity ovary(1)|pancreas(1) 2 CACCCACGTACGGCACATACT 0.557 TSSK6 83983 broad.mit.edu 37 19 19626213 19626213 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:19626213G>A uc002nmr.2 - 1 257 c.24C>T c.(22-24)AGC>AGT p.S8S TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 8 multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 AACCGAGTTCGCTCAGAAGTT 0.622 ATP13A1 57130 broad.mit.edu 37 19 19767528 19767528 + Nonsense_Mutation SNP G G A rs144897534 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:19767528G>A uc002nnh.3 - 7 1052 c.1024C>T c.(1024-1026)CGA>TGA p.R342* ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Nonsense_Mutation_p.R224* NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 342 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 CAGCGGCCTCGCAGCAGAAGC 0.647 RHPN2 85415 broad.mit.edu 37 19 33512524 33512524 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:33512524G>C uc002nuf.2 - 4 409 c.343C>G c.(343-345)CTT>GTT p.L115V RHPN2_uc010xro.1_Intron|RHPN2_uc002nue.2_5'UTR NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 115 BRO1. signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) TTCAGGCCAAGAGGAATCAGG 0.517 ZNF30 90075 broad.mit.edu 37 19 35422801 35422801 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:35422801G>T uc010edp.1 + 3 442 c.64G>T c.(64-66)GCC>TCC p.A22S ZNF30_uc002nxf.2_5'UTR|ZNF30_uc010edq.1_Missense_Mutation_p.A22S|ZNF30_uc010edr.1_Missense_Mutation_p.A22S NM_194325 NP_919306 P17039 ZNF30_HUMAN zinc finger protein 30 isoform b 22 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) TGTGGCCATAGCCTTCTCCCA 0.463 FFAR2 2867 broad.mit.edu 37 19 35941244 35941244 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:35941244C>G uc002nzg.2 + 2 708 c.628C>G c.(628-630)CCC>GCC p.P210A FFAR2_uc010eea.2_Missense_Mutation_p.P210A NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 210 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCTCTCCCAGCCCCTTGTGGG 0.627 U2AF1L4 199746 broad.mit.edu 37 19 36234944 36234944 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:36234944G>A uc002obg.2 - 5 466 c.157C>T c.(157-159)CGG>TGG p.R53W TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_Intron|U2AF1L4_uc002obe.2_Missense_Mutation_p.R112W|U2AF1L4_uc002obf.2_Intron|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank Q8WU68 U2AF4_HUMAN Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650. 151 C3H1-type 2. mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CATGACTCCCGGAAGTCAGTG 0.592 ARHGAP33 115703 broad.mit.edu 37 19 36271949 36271949 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:36271949G>T uc002obr.1 + 11 1042 c.957G>T c.(955-957)GAG>GAT p.E319D ARHGAP33_uc002obs.1_Missense_Mutation_p.E319D|ARHGAP33_uc002obt.1_Missense_Mutation_p.E183D|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 319 Rho-GAP. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 ATCTTGGCGAGCACCTCAGCA 0.697 PRODH2 58510 broad.mit.edu 37 19 36304127 36304127 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:36304127A>G uc002obx.1 - 1 75 c.57T>C c.(55-57)ATT>ATC p.I19I NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 19 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity ovary(2) 2 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) tcacgtttgtaatcccaacac 0 NPHS1 4868 broad.mit.edu 37 19 36332672 36332672 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:36332672A>G uc002oby.2 - 20 2760 c.2760T>C c.(2758-2760)TGT>TGC p.C920C NPHS1_uc010eem.1_5'Flank NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 920 Ig-like C2-type 8.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 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) TGGTGGCTGTACATGTGAAGA 0.587 ZNF790 388536 broad.mit.edu 37 19 37310520 37310520 + Silent SNP A A G rs34171890 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:37310520A>G uc002oew.2 - 5 845 c.726T>C c.(724-726)ACT>ACC p.T242T uc002oev.1_Intron NM_206894 NP_996777 Q6PG37 ZN790_HUMAN zinc finger protein 790 242 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCTTATGACCAGTAAGACTCG 0.348 ZFP30 22835 broad.mit.edu 37 19 38134164 38134164 + Splice_Site SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:38134164A>G uc002ogv.1 - 5 751 c.235_splice c.e5+1 p.D79_splice ZFP30_uc002ogw.1_Splice_Site_p.D79_splice|ZFP30_uc002ogx.1_Splice_Site_p.D79_splice|ZFP30_uc010xtt.1_Splice_Site_p.D78_splice NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATCAGCACTTACCTAGAGTCC 0.488 ZNF781 163115 broad.mit.edu 37 19 38160451 38160451 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:38160451A>C uc002ogy.2 - 4 1341 c.599T>G c.(598-600)CTT>CGT p.L200R ZNF781_uc002ogz.2_Missense_Mutation_p.L195R NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GACATTCATAAGATTTCTCAT 0.358 SIPA1L3 23094 broad.mit.edu 37 19 38572964 38572964 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:38572964C>G uc002ohk.2 + 3 1268 c.759C>G c.(757-759)GGC>GGG p.G253G NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 253 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) TCATGGGGGGCGGCGGCGGAG 0.692 CATSPERG 57828 broad.mit.edu 37 19 38861356 38861356 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:38861356G>A uc002oih.3 + 29 3491 c.3404G>A c.(3403-3405)GGC>GAC p.G1135D CATSPERG_uc002oig.3_Missense_Mutation_p.G1095D|CATSPERG_uc002oif.3_Missense_Mutation_p.G775D|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 1135 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 TCCAGGATGGGCTCCATGTTC 0.557 FAM98C 147965 broad.mit.edu 37 19 38895639 38895639 + Silent SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:38895639A>C uc002oin.1 + 4 460 c.441A>C c.(439-441)GTA>GTC p.V147V FAM98C_uc002oio.1_Silent_p.V147V|FAM98C_uc010xtz.1_Intron NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 147 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTGAAGGGGTAGTGGAGGGAG 0.647 SARS2 54938 broad.mit.edu 37 19 39412279 39412279 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:39412279C>T uc002oka.2 - 4 582 c.422G>A c.(421-423)CGT>CAT p.R141H SARS2_uc002ojz.2_Intron|SARS2_uc010xup.1_Intron|SARS2_uc002okb.2_Missense_Mutation_p.R141H|SARS2_uc010xuq.1_Missense_Mutation_p.R141H|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_3'UTR NM_017827 NP_060297 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2 isoform b precursor 141 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CTCCCGGCCACGTGCCCGCAG 0.647 LTBP4 8425 broad.mit.edu 37 19 41114169 41114169 + Nonsense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:41114169C>G uc002ooh.1 + 11 1401 c.1401C>G c.(1399-1401)TAC>TAG p.Y467* LTBP4_uc002oog.1_Nonsense_Mutation_p.Y430*|LTBP4_uc002ooi.1_Nonsense_Mutation_p.Y400*|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 467 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTTACCACTACTCGGCCTCCG 0.617 EXOSC5 56915 broad.mit.edu 37 19 41892595 41892595 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:41892595C>T uc002oqo.2 - 6 674 c.651G>A c.(649-651)TCG>TCA p.S217S CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron NM_020158 NP_064543 Q9NQT4 EXOS5_HUMAN exosome component Rrp46 217 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding 0 AGACGTGTTGCGAAGCGGCCT 0.657 ATP1A3 478 broad.mit.edu 37 19 42486220 42486220 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:42486220C>A uc002osg.2 - 9 1186 c.1032G>T c.(1030-1032)AAG>AAT p.K344N ATP1A3_uc010xwf.1_Missense_Mutation_p.K355N|ATP1A3_uc010xwg.1_Missense_Mutation_p.K314N|ATP1A3_uc010xwh.1_Missense_Mutation_p.K357N|ATP1A3_uc002osh.2_Missense_Mutation_p.K344N NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 344 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 ccaggcagttcttccGGGCCA 0.473 PLAUR 5329 broad.mit.edu 37 19 44174241 44174241 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:44174241A>G uc002oxf.1 - 1 262 c.32T>C c.(31-33)CTG>CCG p.L11P PLAUR_uc002oxd.1_Missense_Mutation_p.L11P|PLAUR_uc002oxe.1_5'Flank|PLAUR_uc002oxg.1_Missense_Mutation_p.L11P NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 11 attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GTGGagcagcagcagcagcgg 0.562 CLPTM1 1209 broad.mit.edu 37 19 45476381 45476381 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:45476381C>T uc002pai.2 + 3 238 c.223C>T c.(223-225)CGA>TGA p.R75* CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.1_5'UTR|CLPTM1_uc010xxg.1_Nonsense_Mutation_p.R61* NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 75 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) TTGGTTCCGCCGAGGGCCGGC 0.637 PPP1R13L 10848 broad.mit.edu 37 19 45885799 45885799 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:45885799G>A uc002pbn.2 - 12 2511 c.2434C>T c.(2434-2436)CGG>TGG p.R812W PPP1R13L_uc002pbm.2_Missense_Mutation_p.R391W|PPP1R13L_uc002pbo.2_Missense_Mutation_p.R812W NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 812 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) AAGTAGTTCCGCGGCACGTAG 0.672 SIX5 147912 broad.mit.edu 37 19 46269299 46269299 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:46269299C>G uc002pdb.2 - 3 2075 c.1680G>C c.(1678-1680)AAG>AAC p.K560N SIX5_uc002pdc.2_Missense_Mutation_p.D292H NM_175875 NP_787071 Q8N196 SIX5_HUMAN SIX homeobox 5 560 cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235) TGAGGATGATCTTGCCCTGCT 0.672 HIF3A 64344 broad.mit.edu 37 19 46815865 46815865 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:46815865G>A uc002peh.2 + 8 1009 c.980G>A c.(979-981)CGG>CAG p.R327Q HIF3A_uc002pef.1_3'UTR|HIF3A_uc002peg.3_Missense_Mutation_p.R327Q|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.R271Q|HIF3A_uc002pej.1_Missense_Mutation_p.R258Q|HIF3A_uc002pek.2_Missense_Mutation_p.R271Q|HIF3A_uc010xxy.1_Missense_Mutation_p.R258Q|HIF3A_uc002pel.2_Missense_Mutation_p.R325Q|HIF3A_uc010xxz.1_Missense_Mutation_p.R276Q NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TCAGGGGGACGGGGCCCCCAG 0.617 PRKD2 25865 broad.mit.edu 37 19 47207644 47207644 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:47207644C>T uc002pfh.2 - 6 1013 c.671G>A c.(670-672)CGT>CAT p.R224H PRKD2_uc002pfg.2_Missense_Mutation_p.R67H|PRKD2_uc002pfi.2_Missense_Mutation_p.R224H|PRKD2_uc002pfj.2_Missense_Mutation_p.R224H|PRKD2_uc010xye.1_Missense_Mutation_p.R224H|PRKD2_uc002pfk.2_Missense_Mutation_p.R67H NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 224 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GGTGGTGCTACGGCTCTGTCG 0.627 OREG0025578 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NPAS1 4861 broad.mit.edu 37 19 47524418 47524418 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:47524418C>A uc002pfw.2 + 2 310 c.114C>A c.(112-114)TCC>TCA p.S38S NPAS1_uc002pfx.2_Intron|NPAS1_uc002pfy.2_Silent_p.S38S NM_002517 NP_002508 Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 38 central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) AGGCGCCGTCCGGACCGTGGT 0.542 TBC1D17 79735 broad.mit.edu 37 19 50383626 50383626 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:50383626C>T uc002pqo.2 + 4 438 c.286C>T c.(286-288)CGG>TGG p.R96W AKT1S1_uc002pqm.3_5'Flank|TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Missense_Mutation_p.R63W|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_5'Flank NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 96 intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CAGCACTGTGCGGCCACAGCT 0.597 SIGLEC9 27180 broad.mit.edu 37 19 51629040 51629040 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:51629040A>C uc002pvu.2 + 2 675 c.608A>C c.(607-609)CAG>CCG p.Q203P SIGLEC9_uc010yct.1_Missense_Mutation_p.Q203P NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 203 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CTCATCCCACAGCCCCAGGAC 0.642 NLRP12 91662 broad.mit.edu 37 19 54327332 54327332 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:54327332C>A uc002qch.3 - 1 317 c.97G>T c.(97-99)GGG>TGG p.G33W NLRP12_uc002qci.3_Missense_Mutation_p.G33W|NLRP12_uc002qcj.3_Missense_Mutation_p.G33W|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.G33W NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 33 DAPIN. 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) GTCGCGGTCCCCAGGTATAAC 0.607 MYADM 91663 broad.mit.edu 37 19 54377623 54377623 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:54377623C>T uc002qcl.2 + 3 988 c.840C>T c.(838-840)AGC>AGT p.S280S MYADM_uc002qcm.2_Silent_p.S280S|MYADM_uc002qcn.2_Silent_p.S280S|MYADM_uc002qco.2_Silent_p.S280S|MYADM_uc002qcp.2_Silent_p.S280S NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 280 MARVEL 2. integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) TAAGCTGCAGCCGCAGCCATG 0.617 LENG8 114823 broad.mit.edu 37 19 54966670 54966670 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:54966670C>A uc002qfv.1 + 7 982 c.838C>A c.(838-840)CTC>ATC p.L280I LENG8_uc002qfw.2_Missense_Mutation_p.L317I Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 280 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GGAAAAGCTGCTCAAGGAGGT 0.632 NLRP7 199713 broad.mit.edu 37 19 55451393 55451393 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:55451393A>G uc002qih.3 - 4 870 c.794T>C c.(793-795)CTG>CCG p.L265P NLRP7_uc002qig.3_Missense_Mutation_p.L265P|NLRP7_uc002qii.3_Missense_Mutation_p.L265P|NLRP7_uc010esk.2_Missense_Mutation_p.L265P|NLRP7_uc010esl.2_Missense_Mutation_p.L293P NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 265 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) GTCCTGGATCAGCGCCCCAGG 0.572 NLRP13 126204 broad.mit.edu 37 19 56423312 56423312 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:56423312C>G uc010ygg.1 - 5 1896 c.1871G>C c.(1870-1872)GGT>GCT p.G624A NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 624 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) TTCAGCCTTACCTAACTCTTC 0.403 ZNF582 147948 broad.mit.edu 37 19 56896485 56896485 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:56896485G>T uc002qmz.1 - 5 460 c.301C>A c.(301-303)CAA>AAA p.Q101K ZNF582_uc002qmy.2_Missense_Mutation_p.Q132K NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) ATCTCCCATTGGGGTGATTCG 0.383 PEG3 5178 broad.mit.edu 37 19 57328104 57328104 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:57328104T>G uc002qnu.2 - 7 2057 c.1706A>C c.(1705-1707)AAG>ACG p.K569T ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K540T|PEG3_uc002qnv.2_Missense_Mutation_p.K569T|PEG3_uc002qnw.2_Missense_Mutation_p.K445T|PEG3_uc002qnx.2_Missense_Mutation_p.K443T|PEG3_uc010etr.2_Missense_Mutation_p.K569T NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 569 C2H2-type 3. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GAAGGTTTCCTTACACACCCT 0.368 ZNF304 57343 broad.mit.edu 37 19 57867521 57867521 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:57867521A>G uc010ygw.1 + 3 672 c.284A>G c.(283-285)GAC>GGC p.D95G ZNF304_uc010etw.2_Missense_Mutation_p.D142G|ZNF304_uc010etx.2_Missense_Mutation_p.D53G NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 95 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GAGATGTGTGACCCACTCTTG 0.507 ZNF329 79673 broad.mit.edu 37 19 58640743 58640743 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:58640743T>A uc002qrn.2 - 4 365 c.128A>T c.(127-129)CAG>CTG p.Q43L ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) GTGTCCCTCCTGGTTCTCACA 0.468 COLEC11 78989 broad.mit.edu 37 2 3691583 3691583 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:3691583G>A uc002qya.2 + 7 839 c.691G>A c.(691-693)GGT>AGT p.G231S COLEC11_uc002qxz.2_Missense_Mutation_p.G228S|COLEC11_uc002qyb.2_Missense_Mutation_p.G207S|COLEC11_uc002qyc.2_Missense_Mutation_p.G207S|COLEC11_uc010ewo.2_Missense_Mutation_p.G183S|COLEC11_uc010ewp.2_Missense_Mutation_p.G205S|COLEC11_uc010ewq.2_Missense_Mutation_p.G181S|COLEC11_uc010ewr.2_Missense_Mutation_p.G181S|COLEC11_uc010ews.2_Missense_Mutation_p.G157S NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 231 C-type lectin. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GTGGCGCAGCGGTGAGCCCAA 0.622 ADAM17 6868 broad.mit.edu 37 2 9666322 9666322 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:9666322G>A uc002qzu.2 - 6 854 c.671C>T c.(670-672)ACG>ATG p.T224M ADAM17_uc010ewy.2_Missense_Mutation_p.T224M|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exa.2_5'Flank|ADAM17_uc010exb.1_3'UTR NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 224 Peptidase M12B.|Extracellular (Potential). B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) TAATTTACACGTGTTCTTCAT 0.373 NCOA1 8648 broad.mit.edu 37 2 24928069 24928069 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:24928069A>C uc002rfk.2 + 10 1322 c.1064A>C c.(1063-1065)CAA>CCA p.Q355P NCOA1_uc010eye.2_Missense_Mutation_p.Q355P|NCOA1_uc002rfi.2_Missense_Mutation_p.Q204P|NCOA1_uc002rfj.2_Missense_Mutation_p.Q355P|NCOA1_uc002rfl.2_Missense_Mutation_p.Q355P NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 355 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGACATGCAACCTTTCATC 0.403 T PAX3 alveolar rhadomyosarcoma CIB4 130106 broad.mit.edu 37 2 26864136 26864136 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:26864136T>A uc002rhm.2 - 1 76 c.47A>T c.(46-48)GAG>GTG p.E16V NM_001029881 NP_001025052 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 16 calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTGGTACTCTTCCAGGTC 0.542 CDKL4 344387 broad.mit.edu 37 2 39411785 39411785 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:39411785T>C uc002rrm.2 - 7 739 c.739A>G c.(739-741)ACT>GCT p.T247A CDKL4_uc010fal.1_Missense_Mutation_p.T247A NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 247 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) TCCTCAAGAGTTTCCTGAAAA 0.224 TSPYL6 388951 broad.mit.edu 37 2 54483113 54483113 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:54483113A>G uc002rxr.2 - 1 297 c.176T>C c.(175-177)GTC>GCC p.V59A ACYP2_uc002rxq.3_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN TSPY-like 6 59 nucleosome assembly nucleus 0 CTGGGGCGCGACCCCCTCCTC 0.597 ANKRD53 79998 broad.mit.edu 37 2 71209753 71209753 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:71209753C>T uc002shl.3 + 5 1030 c.829C>T c.(829-831)CGT>TGT p.R277C ANKRD53_uc002shk.3_Missense_Mutation_p.R277C|ANKRD53_uc002shm.3_Missense_Mutation_p.R188C NM_001115116 NP_001108588 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 isoform a 277 0 GGACTTTGCCCGTGAGATGAC 0.537 DQX1 165545 broad.mit.edu 37 2 74746867 74746867 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:74746867G>C uc010yrw.1 - 10 1787 c.1622C>G c.(1621-1623)GCA>GGA p.A541G DQX1_uc002smc.2_Missense_Mutation_p.A102G NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 541 nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 AGCCTCATCTGCTCCACCTAG 0.507 LRRTM4 80059 broad.mit.edu 37 2 77746530 77746530 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:77746530G>A uc002snr.2 - 3 880 c.465C>T c.(463-465)GGC>GGT p.G155G LRRTM4_uc002snq.2_Silent_p.G155G|LRRTM4_uc002sns.2_Silent_p.G155G|LRRTM4_uc002snt.2_Silent_p.G156G NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 155 LRR 4.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GTTTCCGAAGGCCTTTAAATT 0.393 REG1B 5968 broad.mit.edu 37 2 79312400 79312400 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:79312400T>G uc002sny.2 - 6 555 c.443A>C c.(442-444)AAA>ACA p.K148T NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 148 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 ATCCTTCCATTTCTTGAATCC 0.403 POLR1A 25885 broad.mit.edu 37 2 86315779 86315779 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:86315779C>T uc002sqs.2 - 6 1019 c.640G>A c.(640-642)GTT>ATT p.V214I POLR1A_uc002sqv.2_Missense_Mutation_p.V214I NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 214 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 TTTCGGACAACGGATCGCCCG 0.512 SLC9A2 6549 broad.mit.edu 37 2 103281692 103281692 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:103281692C>T uc002tca.2 + 3 1029 c.887C>T c.(886-888)GCG>GTG p.A296V NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 296 Helical; Name=H/M6; (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 GGCTTTATAGCGGCATTTACT 0.433 PSD4 23550 broad.mit.edu 37 2 113953852 113953852 + Missense_Mutation SNP G G A rs139776921 by1000genomes TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:113953852G>A uc002tjc.2 + 12 2537 c.2354G>A c.(2353-2355)CGG>CAG p.R785Q PSD4_uc002tjd.2_Missense_Mutation_p.R406Q|PSD4_uc002tje.2_Missense_Mutation_p.R756Q|PSD4_uc002tjf.2_Missense_Mutation_p.R406Q|PSD4_uc002tjg.2_5'Flank|PSD4_uc010yxs.1_5'Flank|PSD4_uc002tjh.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 785 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 ATCCTGGCTCGGAAAATGCAT 0.607 RAB6C 84084 broad.mit.edu 37 2 130738406 130738406 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:130738406T>C uc002tpx.1 + 1 1172 c.718T>C c.(718-720)TTA>CTA p.L240L uc002tpw.1_5'Flank NM_032144 NP_115520 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 240 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity lung(1) 1 Colorectal(110;0.1) TTTCCCTTCATTAATAACGTT 0.403 THSD7B 80731 broad.mit.edu 37 2 137872832 137872832 + Silent SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:137872832A>T uc002tva.1 + 4 1245 c.1245A>T c.(1243-1245)GTA>GTT p.V415V THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.V305V NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CCCAGAGCGTACCAGCAGCTG 0.612 LRP1B 53353 broad.mit.edu 37 2 141260572 141260572 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:141260572A>T uc002tvj.1 - 54 9594 c.8622T>A c.(8620-8622)CAT>CAA p.H2874Q NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2874 Extracellular (Potential).|LDL-receptor class A 19. 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) CTTCATCAGAATGGTCAGGAC 0.388 TSP Lung(27;0.18) ZEB2 9839 broad.mit.edu 37 2 145156151 145156152 + Missense_Mutation DNP TC TC AA TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:145156151_145156152TC>AA uc002tvu.2 - 8 3082_3083 c.2602_2603GA>TT c.(2602-2604)GAA>TTA p.E868L ZEB2_uc002tvv.2_Missense_Mutation_p.E862L|ZEB2_uc010zbm.1_Missense_Mutation_p.E839L|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.E897L NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 868 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) ATTTGAAAATTCCTTCTTGATA 0.371 MBD5 55777 broad.mit.edu 37 2 149240713 149240713 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:149240713G>A uc002twm.3 + 10 3541 c.2553G>A c.(2551-2553)GCG>GCA p.A851A MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.A851A|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 851 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) TAGCCATAGCGGGCACCAACC 0.453 RIF1 55183 broad.mit.edu 37 2 152293810 152293810 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:152293810T>C uc002txm.2 + 13 1558 c.1428T>C c.(1426-1428)AAT>AAC p.N476N RIF1_uc002txl.2_Silent_p.N476N|RIF1_uc010fnv.1_Silent_p.N440N|RIF1_uc002txn.2_Silent_p.N476N|RIF1_uc002txo.2_Silent_p.N476N|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 476 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) AACATGCAAATACACTTATCA 0.343 COBLL1 22837 broad.mit.edu 37 2 165548759 165548759 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:165548759G>A uc010zcw.1 - 16 3711 c.3587C>T c.(3586-3588)TCG>TTG p.S1196L COBLL1_uc002ucp.2_Missense_Mutation_p.S1129L|COBLL1_uc002ucq.2_Missense_Mutation_p.S1091L|COBLL1_uc010zcx.1_Missense_Mutation_p.S1137L|COBLL1_uc002ucn.2_Missense_Mutation_p.S557L|COBLL1_uc002uco.2_Missense_Mutation_p.S860L NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 1167 WH2. ovary(2)|pancreas(1) 3 AGCCTCTCCCGAACGGATTGC 0.428 TTC21B 79809 broad.mit.edu 37 2 166767931 166767931 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:166767931A>G uc002udk.2 - 18 2500 c.2367T>C c.(2365-2367)AAT>AAC p.N789N NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 789 TPR 10. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 AGCAAAGATAATTCTTTTGTC 0.378 XIRP2 129446 broad.mit.edu 37 2 168104263 168104263 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:168104263G>A uc002udx.2 + 8 6379 c.6361G>A c.(6361-6363)GTT>ATT p.V2121I XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V1946I|XIRP2_uc010fpq.2_Missense_Mutation_p.V1899I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1946 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGGTAAAACCGTTGGAAAGCA 0.353 ABCB11 8647 broad.mit.edu 37 2 169826018 169826018 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:169826018G>A uc002ueo.1 - 16 1979 c.1853C>T c.(1852-1854)TCT>TTT p.S618F ABCB11_uc010zda.1_Missense_Mutation_p.S60F|ABCB11_uc010zdb.1_Missense_Mutation_p.S94F NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 618 Cytoplasmic (Potential).|ABC transporter 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TCTGACCGTAGACAAGCGATG 0.443 LRP2 4036 broad.mit.edu 37 2 170083054 170083054 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:170083054C>G uc002ues.2 - 32 5485 c.5272G>C c.(5272-5274)GGA>CGA p.G1758R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1758 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) AGGGAGATTCCAAAAATTATA 0.358 TTN 7273 broad.mit.edu 37 2 179411492 179411492 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:179411492G>A uc010zfg.1 - 290 87183 c.86959C>T c.(86959-86961)CGC>TGC p.R28987C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22682C|TTN_uc010zfi.1_Missense_Mutation_p.R22615C|TTN_uc010zfj.1_Missense_Mutation_p.R22490C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29914 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) TTCAGCCAGCGACCATCTCCT 0.488 TTN 7273 broad.mit.edu 37 2 179415859 179415859 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:179415859G>A uc010zfg.1 - 285 83919 c.83695C>T c.(83695-83697)CGC>TGC p.R27899C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21594C|TTN_uc010zfi.1_Missense_Mutation_p.R21527C|TTN_uc010zfj.1_Missense_Mutation_p.R21402C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28826 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R21402C(1)|p.R27897C(1) 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) CTCACCCAGCGTTCATTTCCT 0.463 TTN 7273 broad.mit.edu 37 2 179440722 179440722 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:179440722G>A uc010zfg.1 - 275 62657 c.62433C>T c.(62431-62433)ACC>ACT p.T20811T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14506T|TTN_uc010zfi.1_Silent_p.T14439T|TTN_uc010zfj.1_Silent_p.T14314T|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21738 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) TGTTATCTTTGGTCCATGTCA 0.398 TTN 7273 broad.mit.edu 37 2 179454276 179454276 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:179454276T>A uc010zfg.1 - 253 54696 c.54472A>T c.(54472-54474)ACT>TCT p.T18158S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T11853S|TTN_uc010zfi.1_Missense_Mutation_p.T11786S|TTN_uc010zfj.1_Missense_Mutation_p.T11661S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19085 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) ATGTAGTGAGTTTCTTTAATG 0.428 TTN 7273 broad.mit.edu 37 2 179481230 179481230 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:179481230T>G uc010zfg.1 - 206 40808 c.40584A>C c.(40582-40584)GAA>GAC p.E13528D TTN_uc010zfh.1_Missense_Mutation_p.E7223D|TTN_uc010zfi.1_Missense_Mutation_p.E7156D|TTN_uc010zfj.1_Missense_Mutation_p.E7031D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14455 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) TCCGGCTGACTTCTCGTTTTT 0.433 TTN 7273 broad.mit.edu 37 2 179592042 179592042 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:179592042A>G uc010zfg.1 - 66 16542 c.16318T>C c.(16318-16320)TCT>CCT p.S5440P TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2101P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6367 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) AGTCGTGAAGAGTCACCTGCT 0.408 TTN 7273 broad.mit.edu 37 2 179596518 179596518 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:179596518T>C uc010zfg.1 - 55 13576 c.13352A>G c.(13351-13353)CAG>CGG p.Q4451R TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q1112R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5378 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) CTTGAGGATCTGCAGGCTAAC 0.488 ZNF804A 91752 broad.mit.edu 37 2 185800571 185800571 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:185800571G>T uc002uph.2 + 4 1042 c.448G>T c.(448-450)GAA>TAA p.E150* NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 150 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AAACTGTAATGAAATTTCCCA 0.373 ANKAR 150709 broad.mit.edu 37 2 190602494 190602494 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:190602494T>C uc002uqw.1 + 17 3296 c.3296T>C c.(3295-3297)ATA>ACA p.I1099T ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.I266T NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1170 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GAAAGTGGAATAATGACCATA 0.323 HECW2 57520 broad.mit.edu 37 2 197157452 197157452 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:197157452T>C uc002utm.1 - 14 3020 c.2837A>G c.(2836-2838)AAC>AGC p.N946S HECW2_uc002utl.1_Missense_Mutation_p.N590S NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 946 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 ACACGTGTTGTTTGTAAACAT 0.468 MAP2 4133 broad.mit.edu 37 2 210559927 210559927 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:210559927C>T uc002vde.1 + 7 3281 c.3033C>T c.(3031-3033)TCC>TCT p.S1011S MAP2_uc002vdc.1_Silent_p.S1011S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.S1007S NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1011 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CAGATGCATCCTCTGAGAAAG 0.443 BARD1 580 broad.mit.edu 37 2 215593476 215593476 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:215593476C>T uc002veu.2 - 11 2393 c.2258G>A c.(2257-2259)GGC>GAC p.G753D BARD1_uc010zjm.1_3'UTR NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 753 BRCT 2. 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) CCAGACTTTGCCCTGCCGAAC 0.453 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome ABCA12 26154 broad.mit.edu 37 2 215896544 215896544 + Splice_Site SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:215896544C>G uc002vew.2 - 9 1281 c.1061_splice c.e9+1 p.Q354_splice ABCA12_uc002vev.2_Intron|ABCA12_uc010zjn.1_Splice_Site NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CAAAGACTTACTGTGCAGCCA 0.343 C2orf62 375307 broad.mit.edu 37 2 219222808 219222808 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:219222808T>C uc002vhr.2 + 4 397 c.368T>C c.(367-369)TTC>TCC p.F123S C2orf62_uc002vhs.2_RNA NM_198559 NP_940961 Q7Z7H3 CB062_HUMAN hypothetical protein LOC375307 123 0 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCCAAGACTTCATCAAGGTA 0.512 PLCD4 84812 broad.mit.edu 37 2 219480484 219480484 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:219480484C>T uc002vij.1 + 2 217 c.22C>T c.(22-24)CAG>TAG p.Q8* PLCD4_uc010zkj.1_Missense_Mutation_p.L8F NM_032726 NP_116115 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 8 intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3) 3 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCTGCAAGACCGTGAGTGCCG 0.597 TMEM198 130612 broad.mit.edu 37 2 220412635 220412635 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:220412635G>A uc002vme.2 + 4 1159 c.574G>A c.(574-576)GCC>ACC p.A192T TMEM198_uc002vmf.2_Missense_Mutation_p.A192T NM_001005209 NP_001005209 Q66K66 TM198_HUMAN transmembrane protein 198 192 Helical; (Potential).|Leu-rich. integral to membrane ovary(1) 1 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TGACTACTTCGCCGAGCTGCT 0.701 PAX3 5077 broad.mit.edu 37 2 223086046 223086046 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:223086046C>T uc010fwo.2 - 6 1219 c.853G>A c.(853-855)GCT>ACT p.A285T PAX3_uc002vmt.1_Missense_Mutation_p.A285T|PAX3_uc002vmy.1_Missense_Mutation_p.A284T|PAX3_uc002vmv.1_Missense_Mutation_p.A285T|PAX3_uc002vmw.1_Missense_Mutation_p.A285T|PAX3_uc002vmx.1_Missense_Mutation_p.A285T NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 285 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGTTGAAAGCCATCAGTTGA 0.502 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome SGPP2 130367 broad.mit.edu 37 2 223339343 223339343 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:223339343T>G uc010zlo.1 + 2 276 c.276T>G c.(274-276)TTT>TTG p.F92L SGPP2_uc010zlp.1_5'UTR NM_152386 NP_689599 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphotase 2 92 Helical; (Potential). sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|skin(1) 2 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) TATTCCAATTTTCAGCTGCTT 0.368 COL6A3 1293 broad.mit.edu 37 2 238280823 238280823 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:238280823G>C uc002vwl.2 - 9 4122 c.3837C>G c.(3835-3837)GAC>GAG p.D1279E COL6A3_uc002vwo.2_Missense_Mutation_p.D1073E|COL6A3_uc010znj.1_Missense_Mutation_p.D672E|COL6A3_uc002vwq.2_Missense_Mutation_p.D1073E|COL6A3_uc002vwr.2_Missense_Mutation_p.D872E NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1279 VWFA 7.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCACCTTGGGGTCATCGCTGA 0.602 SLC4A11 83959 broad.mit.edu 37 20 3209270 3209270 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:3209270G>A uc002wig.2 - 17 2372 c.2324C>T c.(2323-2325)CCG>CTG p.P775L SLC4A11_uc010zqe.1_Missense_Mutation_p.P802L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.P759L NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 775 Membrane (bicarbonate transporter).|Helical; (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 CCACTGAAGCGGGACCGGCAG 0.672 SEC23B 10483 broad.mit.edu 37 20 18511371 18511371 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:18511371A>G uc002wqz.1 + 10 1600 c.1157A>G c.(1156-1158)CAG>CGG p.Q386R SEC23B_uc002wra.1_Missense_Mutation_p.Q386R|SEC23B_uc002wrb.1_Missense_Mutation_p.Q386R|SEC23B_uc010zsb.1_Missense_Mutation_p.Q368R|SEC23B_uc002wrc.1_Missense_Mutation_p.Q386R NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 386 Q -> R. ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 CTCTTCAAGCAGACATTCCAA 0.338 PLK1S1 55857 broad.mit.edu 37 20 21143043 21143043 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:21143043G>A uc002wsb.2 + 5 1070 c.937G>A c.(937-939)GAA>AAA p.E313K PLK1S1_uc010zsh.1_Missense_Mutation_p.E210K|PLK1S1_uc010zsi.1_Missense_Mutation_p.E180K|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN polo-like kinase 1 substrate 1 isoform 1 313 spindle organization centrosome protein kinase binding 0 TGAAGTTGAGGAAAAAAGAGC 0.443 NINL 22981 broad.mit.edu 37 20 25457060 25457060 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:25457060C>T uc002wux.1 - 17 2941 c.2867G>A c.(2866-2868)CGG>CAG p.R956Q NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 956 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CTCCCACATCCGTGGCTGGGT 0.687 FAM83D 81610 broad.mit.edu 37 20 37580587 37580587 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:37580587G>A uc002xjg.2 + 4 1313 c.1272G>A c.(1270-1272)GAG>GAA p.E424E NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 394 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) CTCAAACAGAGCCAGGAGAGG 0.547 MYBL2 4605 broad.mit.edu 37 20 42343837 42343837 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:42343837T>C uc002xlb.1 + 13 2103 c.1888T>C c.(1888-1890)TTG>CTG p.L630L MYBL2_uc010zwj.1_Silent_p.L606L NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 630 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AGACAACAGCTTGCTCAACCA 0.562 RIMS4 140730 broad.mit.edu 37 20 43385563 43385563 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:43385563C>G uc002xms.2 - 5 567 c.567G>C c.(565-567)GAG>GAC p.E189D RIMS4_uc010ggu.2_Missense_Mutation_p.E190D NM_182970 NP_892015 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 189 C2. exocytosis|neurotransmitter transport cell junction|synapse ovary(4)|central_nervous_system(1) 5 Myeloproliferative disorder(115;0.0122) CCTGGGGACTCTCAGGAAACA 0.557 MATN4 8785 broad.mit.edu 37 20 43932985 43932985 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:43932985C>T uc002xnn.2 - 3 713 c.526G>A c.(526-528)GCG>ACG p.A176T MATN4_uc002xno.2_Missense_Mutation_p.A176T|MATN4_uc002xnp.2_Missense_Mutation_p.A176T|MATN4_uc010zwr.1_Missense_Mutation_p.A124T|MATN4_uc002xnr.1_Missense_Mutation_p.A176T|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 176 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CCCACGTCCGCGCGCTGCACC 0.687 PIGT 51604 broad.mit.edu 37 20 44047544 44047544 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:44047544G>A uc002xoh.1 + 3 491 c.418G>A c.(418-420)GCC>ACC p.A140T PIGT_uc010ghb.1_Missense_Mutation_p.A130T|PIGT_uc010zwt.1_Intron|PIGT_uc010ghd.1_Silent_p.A80A|PIGT_uc010ghc.1_Intron|PIGT_uc010ghe.1_Intron|PIGT_uc010ghf.1_Silent_p.A126A|PIGT_uc002xoj.1_Missense_Mutation_p.A140T|PIGT_uc002xok.1_Missense_Mutation_p.A140T|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_5'UTR|PIGT_uc010zww.1_Intron|PIGT_uc010zwx.1_Silent_p.A8A|PIGT_uc010zwy.1_Intron|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_Intron|PIGT_uc002xol.1_5'UTR|PIGT_uc010zxb.1_5'Flank NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 140 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) GATCTTCTGCGCCTCTCTCAA 0.527 ZSWIM1 90204 broad.mit.edu 37 20 44511929 44511929 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:44511929G>C uc010ghi.2 + 2 811 c.698G>C c.(697-699)TGG>TCG p.W233S ZSWIM1_uc010zxh.1_Missense_Mutation_p.W106S NM_080603 NP_542170 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 233 zinc ion binding skin(1) 1 Myeloproliferative disorder(115;0.028) CACTCACACTGGCTGCTCAAC 0.587 SULF2 55959 broad.mit.edu 37 20 46365657 46365657 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:46365657G>A uc002xto.2 - 3 535 c.205C>T c.(205-207)CGC>TGC p.R69C SULF2_uc002xtr.2_Missense_Mutation_p.R69C|SULF2_uc002xtq.2_Missense_Mutation_p.R69C|SULF2_uc010ghv.1_Missense_Mutation_p.R69C NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 69 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TCCATGATGCGCCGGGTCTTG 0.637 CASS4 57091 broad.mit.edu 37 20 55027385 55027385 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:55027385T>C uc002xxp.2 + 6 1378 c.1153T>C c.(1153-1155)TCC>CCC p.S385P CASS4_uc002xxq.3_Missense_Mutation_p.S385P|CASS4_uc002xxr.2_Missense_Mutation_p.S385P|CASS4_uc010zze.1_Missense_Mutation_p.S331P|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 385 Ser-rich. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CTCATGGTTCTCCAGACGGAC 0.532 TFAP2C 7022 broad.mit.edu 37 20 55211736 55211736 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:55211736A>G uc002xya.2 + 6 1236 c.993A>G c.(991-993)GCA>GCG p.A331A TFAP2C_uc010zzi.1_Silent_p.A162A NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 331 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) AACCAGTGGCAGAATATTTAA 0.433 ZNF831 128611 broad.mit.edu 37 20 57766555 57766555 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:57766555A>C uc002yan.2 + 1 481 c.481A>C c.(481-483)AAG>CAG p.K161Q NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 161 C2H2-type 1. intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TGTTCTAGAGAAGCACATCCG 0.637 PRPF6 24148 broad.mit.edu 37 20 62657362 62657362 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:62657362G>A uc002yho.2 + 15 2147 c.1979G>A c.(1978-1980)CGG>CAG p.R660Q PRPF6_uc002yhp.2_Intron NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 660 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GAGTACGAGCGGGCCCGGAGG 0.662 SAMSN1 64092 broad.mit.edu 37 21 15870763 15870763 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr21:15870763T>G uc002yju.1 - 7 1001 c.919A>C c.(919-921)ATT>CTT p.I307L SAMSN1_uc010gky.1_Missense_Mutation_p.I139L|SAMSN1_uc002yjv.1_Missense_Mutation_p.I375L NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 307 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) ACACACTTACTTTCTTCTTCA 0.333 TMPRSS15 5651 broad.mit.edu 37 21 19666644 19666644 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr21:19666644C>A uc002ykw.2 - 21 2460 c.2429G>T c.(2428-2430)TGC>TTC p.C810F NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 810 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 AGATGCGCCGCAGAGCAGTCG 0.572 RWDD2B 10069 broad.mit.edu 37 21 30380401 30380401 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr21:30380401C>A uc002yms.2 - 4 493 c.406G>T c.(406-408)GAT>TAT p.D136Y RWDD2B_uc002ymt.2_Missense_Mutation_p.D107Y|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.D56Y NM_016940 NP_058636 P57060 RWD2B_HUMAN RWD domain containing 2B 136 RWD. 0 GCAGTCAGATCTGTGTTCAGC 0.393 KRTAP24-1 643803 broad.mit.edu 37 21 31654507 31654507 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr21:31654507G>A uc002ynv.2 - 1 770 c.744C>T c.(742-744)AGC>AGT p.S248S NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 248 6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].|6. keratin filament structural molecule activity 0 TCAGAGGTCTGCTACCACTGC 0.433 TIAM1 7074 broad.mit.edu 37 21 32492734 32492734 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr21:32492734A>G uc002yow.1 - 29 5200 c.4728T>C c.(4726-4728)GTT>GTC p.V1576V TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.V1516V NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1576 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CTTCACGCCTAACCCAAATGA 0.557 DGCR2 9993 broad.mit.edu 37 22 19029346 19029346 + Missense_Mutation SNP C C T rs142513620 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:19029346C>T uc002zoq.1 - 8 1381 c.1133G>A c.(1132-1134)CGC>CAC p.R378H DGCR2_uc002zor.1_Missense_Mutation_p.R154H|DGCR2_uc011agr.1_Missense_Mutation_p.R334H NM_005137 NP_005128 P98153 IDD_HUMAN integral membrane protein DGCR2 precursor 378 Cytoplasmic (Potential). cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding large_intestine(1) 1 Colorectal(54;0.0993) GGACTCGATGCGCTCCCGGCG 0.647 HIRA 7290 broad.mit.edu 37 22 19363188 19363188 + Missense_Mutation SNP C C A rs116694036 by1000genomes TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:19363188C>A uc002zpf.1 - 15 1961 c.1741G>T c.(1741-1743)GCC>TCC p.A581S HIRA_uc011agx.1_Missense_Mutation_p.A447S|HIRA_uc010grn.1_Missense_Mutation_p.A581S|HIRA_uc010gro.1_Missense_Mutation_p.A537S|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 581 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) CTGGTCAGGGCAGGAGCACCT 0.577 ZDHHC8 29801 broad.mit.edu 37 22 20130522 20130522 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:20130522C>G uc002zrq.2 + 10 1475 c.1369C>G c.(1369-1371)CCC>GCC p.P457A ZDHHC8_uc002zrr.1_Missense_Mutation_p.P457A|ZDHHC8_uc010gsa.2_Missense_Mutation_p.P263A NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 457 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) TGAGGGGGGGCCCCCCACGCC 0.687 RTN4R 65078 broad.mit.edu 37 22 20230373 20230373 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:20230373G>A uc002zrv.2 - 2 484 c.283C>T c.(283-285)CGA>TGA p.R95* RTN4R_uc002zru.2_5'UTR NM_023004 NP_075380 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor precursor 95 LRR 2. axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity 0 Colorectal(54;0.0993) GCATCAATTCGGGCCAGCACA 0.627 P2RX6 9127 broad.mit.edu 37 22 21377428 21377428 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:21377428C>A uc010gsu.1 + 6 579 c.579C>A c.(577-579)GCC>GCA p.A193A P2RX6_uc002ztz.2_Silent_p.A167A|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA NM_005446 NP_005437 O15547 P2RX6_HUMAN purinergic receptor P2X6 isoform 1 193 Extracellular (Potential). muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 TGGCCCAGGCCCAGAACTTCA 0.582 CCDC116 164592 broad.mit.edu 37 22 21988490 21988490 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:21988490C>A uc002zve.2 + 3 345 c.252C>A c.(250-252)GAC>GAA p.D84E CCDC116_uc011aih.1_Missense_Mutation_p.D84E NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 84 Potential. ovary(1)|skin(1) 2 Colorectal(54;0.105) AGGTCCTGGACAGCCTGGAGA 0.617 ZNF280B 140883 broad.mit.edu 37 22 22843016 22843016 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:22843016T>C uc002zwc.1 - 4 1484 c.708A>G c.(706-708)CCA>CCG p.P236P LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GAAAAGCTGCTGGAAAAGGTG 0.363 GNAZ 2781 broad.mit.edu 37 22 23465440 23465440 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:23465440A>T uc002zwu.1 + 3 1427 c.890A>T c.(889-891)TAC>TTC p.Y297F RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 297 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CAGAACACGTACGAGGAGGCC 0.572 GGT1 2678 broad.mit.edu 37 22 25024357 25024357 + Splice_Site SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:25024357T>C uc003aan.1 + 15 2050 c.1563_splice c.e15+2 p.Q521_splice GGT1_uc003aat.1_Splice_Site_p.Q521_splice|GGT1_uc003aau.1_Splice_Site_p.Q521_splice|GGT1_uc003aav.1_Splice_Site_p.Q521_splice|GGT1_uc003aaw.1_Splice_Site_p.Q521_splice|GGT1_uc003aax.1_Splice_Site_p.Q521_splice|GGT1_uc003aay.1_Splice_Site_p.Q177_splice NM_013430 NP_038347 P19440 GGT1_HUMAN gamma-glutamyltransferase 1 precursor glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding 0 Glutathione(DB00143) ATTGACCAGGTGGGCCGGGGG 0.612 CRYBB3 1417 broad.mit.edu 37 22 25603126 25603126 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:25603126C>T uc003abo.1 + 6 655 c.583C>T c.(583-585)CGC>TGC p.R195C NM_004076 NP_004067 P26998 CRBB3_HUMAN crystallin, beta B3 195 Beta/gamma crystallin 'Greek key' 4. visual perception protein binding|structural constituent of eye lens 0 GCAGTCTGTGCGCCGCATCCG 0.662 MN1 4330 broad.mit.edu 37 22 28193409 28193409 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:28193409C>T uc003adj.2 - 1 4078 c.3123G>A c.(3121-3123)GTG>GTA p.V1041V NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1041 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 CGAACTCACCCACGTTTGGCG 0.627 T ETV6 AML|meningioma HMOX1 3162 broad.mit.edu 37 22 35782986 35782986 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:35782986C>A uc003ant.1 + 3 533 c.453C>A c.(451-453)GCC>GCA p.A151A NM_002133 NP_002124 P09601 HMOX1_HUMAN heme oxygenase (decyclizing) 1 151 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity ovary(1) 1 NADH(DB00157) AAAAGATTGCCCAGAAAGCCC 0.642 C1QTNF6 114904 broad.mit.edu 37 22 37578760 37578760 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:37578760G>C uc003aqw.1 - 2 753 c.248C>G c.(247-249)CCA>CGA p.P83R C1QTNF6_uc003aqx.1_Missense_Mutation_p.P102R|C1QTNF6_uc003aqy.1_Missense_Mutation_p.P102R|C1QTNF6_uc003aqz.1_Intron NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 83 Collagen-like. collagen 0 CATTGGGCCTGGGTCCCCTTT 0.642 SOX10 6663 broad.mit.edu 37 22 38370125 38370125 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:38370125C>T uc003aun.1 - 4 1056 c.778G>A c.(778-780)GGG>AGG p.G260R POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.G260R NM_006941 NP_008872 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 260 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity 0 Melanoma(58;0.045) ATGGAGCGCCCGTCCCGCTTC 0.622 SOX10 6663 broad.mit.edu 37 22 38373944 38373944 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:38373944G>A uc003aun.1 - 3 905 c.627C>T c.(625-627)AGC>AGT p.S209S POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Silent_p.S209S NM_006941 NP_008872 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 209 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity 0 Melanoma(58;0.045) CCAAGTGGGCGCTCTTGTAGT 0.701 FAM83F 113828 broad.mit.edu 37 22 40417839 40417839 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:40417839T>A uc003ayk.1 + 4 1419 c.1325T>A c.(1324-1326)CTC>CAC p.L442H NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 442 breast(1) 1 AGCAGCAGGCTCTTCAGTCGC 0.672 PACSIN2 11252 broad.mit.edu 37 22 43280459 43280459 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:43280459G>A uc010gzg.2 - 6 940 c.718C>T c.(718-720)CGC>TGC p.R240C PACSIN2_uc003bdg.3_Missense_Mutation_p.R240C|PACSIN2_uc003bde.3_Missense_Mutation_p.R240C|PACSIN2_uc003bdf.3_Missense_Mutation_p.R240C NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in 240 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity 0 Glioma(61;0.222) AAGCGAAGGCGTTTCTCCTCG 0.527 SMC1B 27127 broad.mit.edu 37 22 45755702 45755702 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:45755702C>A uc003bgc.2 - 18 2897 c.2845G>T c.(2845-2847)GAC>TAC p.D949Y SMC1B_uc003bgd.2_Missense_Mutation_p.D949Y NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 949 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TCAATGATGTCATCCAGTGAC 0.398 GTSE1 51512 broad.mit.edu 37 22 46704360 46704360 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:46704360C>T uc011aqy.1 + 4 494 c.282C>T c.(280-282)GCC>GCT p.A94A GTSE1_uc011aqz.1_5'UTR NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 75 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GCCCTCTGGCCGGGGAGAAGT 0.537 CELSR1 9620 broad.mit.edu 37 22 46931942 46931942 + Missense_Mutation SNP G G A rs148833987 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:46931942G>A uc003bhw.1 - 1 1126 c.1126C>T c.(1126-1128)CGC>TGC p.R376C NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 376 Extracellular (Potential).|Cadherin 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCGCTGGCGCGGATGGTCAGC 0.657 MOV10L1 54456 broad.mit.edu 37 22 50530569 50530569 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:50530569A>G uc003bjj.2 + 2 320 c.237A>G c.(235-237)GCA>GCG p.A79A MOV10L1_uc003bjk.3_Silent_p.A79A|MOV10L1_uc011arp.1_Silent_p.A59A|MOV10L1_uc010han.2_Silent_p.A59A NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 79 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AAGTGATTGCAGTTGTGGAAG 0.433 TYMP 1890 broad.mit.edu 37 22 50967983 50967983 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:50967983C>T uc003bmb.3 - 1 276 c.156G>A c.(154-156)GCG>GCA p.A52A TYMP_uc003bmc.3_Silent_p.A52A|TYMP_uc003bmd.3_Silent_p.A52A|TYMP_uc010hbd.2_Silent_p.A52A|TYMP_uc003bme.3_Silent_p.A52A|TYMP_uc003bmf.3_Silent_p.A52A|TYMP_uc011arz.1_Silent_p.A52A NM_001113756 NP_001107228 P19971 TYPH_HUMAN endothelial cell growth factor 1 52 angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity ovary(1) 1 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675) CCCTGATGTCCGCTTCGCTCA 0.692 SRGAP3 9901 broad.mit.edu 37 3 9027389 9027389 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:9027389G>A uc003brf.1 - 22 3790 c.3114C>T c.(3112-3114)ACC>ACT p.T1038T SRGAP3_uc003brg.1_Silent_p.T1014T NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 1038 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CTGGCTTGAAGGTGGTCATCA 0.721 T RAF1 pilocytic astrocytoma SRGAP3 9901 broad.mit.edu 37 3 9074409 9074409 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:9074409C>A uc003brf.1 - 12 2140 c.1464G>T c.(1462-1464)CAG>CAT p.Q488H SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_RNA NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 488 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCCTCATTTTCTGTGGTTTAG 0.458 T RAF1 pilocytic astrocytoma LHFPL4 375323 broad.mit.edu 37 3 9594221 9594221 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:9594221C>T uc003bry.2 - 2 429 c.143G>A c.(142-144)GGC>GAC p.G48D NM_198560 NP_940962 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 48 integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(99;0.227) CACGCTGTCGCCCACCCAGTA 0.657 TADA3 10474 broad.mit.edu 37 3 9831526 9831526 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:9831526G>C uc003bsx.1 - 3 877 c.329C>G c.(328-330)GCA>GGA p.A110G TADA3_uc010hcn.1_Missense_Mutation_p.A110G|TADA3_uc003bsy.2_Missense_Mutation_p.A110G|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank NM_006354 NP_006345 O75528 TADA3_HUMAN transcriptional adaptor 3 isoform a 110 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity 0 CCCATGTCCTGCCTTCCCTTC 0.547 CRELD1 78987 broad.mit.edu 37 3 9982881 9982881 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:9982881A>G uc003bug.2 + 7 842 c.724A>G c.(724-726)AAG>GAG p.K242E CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.K242E|CRELD1_uc003buh.2_Missense_Mutation_p.K242E|CRELD1_uc003bui.2_Missense_Mutation_p.K242E|CRELD1_uc003buj.2_RNA NM_001077415 NP_001070883 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 isoform 3 242 FU 1.|Extracellular (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding ovary(1) 1 GCATCACCTCAAGTGTGTAGG 0.493 SUSD5 26032 broad.mit.edu 37 3 33194483 33194483 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:33194483G>A uc003cfo.1 - 5 2059 c.1641C>T c.(1639-1641)CCC>CCT p.P547P NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 547 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 CACCTGGCCCGGGGCCTTCCT 0.577 LRRC2 79442 broad.mit.edu 37 3 46586647 46586647 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:46586647C>T uc010hji.2 - 3 586 c.222G>A c.(220-222)CGG>CGA p.R74R LRRC2_uc003cpu.3_Silent_p.R74R NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 74 ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) TGTCCAGAAGCCGCACGCTGG 0.512 NBEAL2 23218 broad.mit.edu 37 3 47045860 47045860 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:47045860C>A uc003cqp.2 + 37 6354 c.6175C>A c.(6175-6177)CTG>ATG p.L2059M NBEAL2_uc010hjm.1_Missense_Mutation_p.L1436M|NBEAL2_uc010hjn.1_Missense_Mutation_p.L455M|NBEAL2_uc010hjo.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2059 BEACH. binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CCAGGAGATGCTGCGTGCCTC 0.652 CELSR3 1951 broad.mit.edu 37 3 48691836 48691836 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:48691836G>A uc003cul.2 - 7 5319 c.5038C>T c.(5038-5040)CCC>TCC p.P1680S CELSR3_uc003cuf.1_Missense_Mutation_p.P1750S|CELSR3_uc010hkg.2_5'Flank NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1680 Extracellular (Potential).|Laminin G-like 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AAGTTCTCGGGGAGGTTGGGG 0.592 CELSR3 1951 broad.mit.edu 37 3 48696932 48696932 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:48696932G>T uc003cul.2 - 1 3417 c.3136C>A c.(3136-3138)CCA>ACA p.P1046T CELSR3_uc003cuf.1_Missense_Mutation_p.P1116T NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1046 Extracellular (Potential).|Cadherin 7. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTCCGGAGTGGGGGCACACCT 0.557 RNF123 63891 broad.mit.edu 37 3 49740928 49740928 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:49740928G>T uc003cxh.2 + 21 1905 c.1819G>T c.(1819-1821)GGC>TGC p.G607C RNF123_uc010hky.1_Missense_Mutation_p.G269C|RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 607 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GCGCCTGGGGGGCCTCCTCTC 0.632 OREG0015571 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GRM2 2912 broad.mit.edu 37 3 51749114 51749114 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:51749114G>A uc010hlv.2 + 4 1564 c.1325G>A c.(1324-1326)CGC>CAC p.R442H GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 442 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) AATGAGGTCCGCTTTGACCGC 0.562 PARP3 10039 broad.mit.edu 37 3 51981822 51981822 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:51981822G>C uc003dby.2 + 10 1714 c.1343G>C c.(1342-1344)AGA>ACA p.R448T PARP3_uc003dbz.2_Missense_Mutation_p.R455T NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 448 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GCCCTGGGCAGAGAGCACCAT 0.607 PCBP4 57060 broad.mit.edu 37 3 51992870 51992870 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:51992870G>A uc003dcd.1 - 11 1255 c.859C>T c.(859-861)CGG>TGG p.R287W PCBP4_uc003dcb.1_Missense_Mutation_p.R253W|PCBP4_uc003dcc.1_Missense_Mutation_p.R308W|PCBP4_uc003dce.1_Missense_Mutation_p.A288V|PCBP4_uc003dcf.1_Missense_Mutation_p.R287W|PCBP4_uc003dcg.1_Missense_Mutation_p.R253W|PCBP4_uc003dch.1_Missense_Mutation_p.R287W|PCBP4_uc003dci.1_Missense_Mutation_p.R127W|PCBP4_uc003dcj.1_Missense_Mutation_p.R287W|PCBP4_uc003dck.1_Missense_Mutation_p.R244W|PCBP4_uc003dcl.1_Missense_Mutation_p.R287W NM_033010 NP_127503 P57723 PCBP4_HUMAN poly(rC) binding protein 4 isoform c 287 KH 3. cytoplasm|ribonucleoprotein complex DNA binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GTGACATGCCGCTCCCCAGCG 0.652 NT5DC2 64943 broad.mit.edu 37 3 52562296 52562296 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:52562296A>T uc003deo.2 - 6 987 c.563T>A c.(562-564)TTC>TAC p.F188Y NT5DC2_uc003dem.2_Missense_Mutation_p.F58Y|NT5DC2_uc003den.2_Missense_Mutation_p.F225Y|NT5DC2_uc010hmi.2_Missense_Mutation_p.F200Y|NT5DC2_uc010hmj.2_Missense_Mutation_p.F4Y NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 188 hydrolase activity|metal ion binding 0 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) CGGTAGCGAGAAGATGTCCAT 0.582 CNTN3 5067 broad.mit.edu 37 3 74349051 74349051 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:74349051C>T uc003dpm.1 - 16 2214 c.2134G>A c.(2134-2136)GGA>AGA p.G712R NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 712 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GACCGGCTTCCGCCTCCTCCA 0.443 C3orf26 84319 broad.mit.edu 37 3 99895194 99895194 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:99895194A>G uc003dtl.2 + 9 834 c.691A>G c.(691-693)AAA>GAA p.K231E NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 231 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 GAGCCCCTTAAAATTTCTGGT 0.398 PHLDB2 90102 broad.mit.edu 37 3 111632518 111632518 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:111632518G>A uc010hqa.2 + 3 2099 c.1688G>A c.(1687-1689)AGC>AAC p.S563N PHLDB2_uc003dyc.2_Missense_Mutation_p.S590N|PHLDB2_uc003dyd.2_Missense_Mutation_p.S563N|PHLDB2_uc003dyg.2_Missense_Mutation_p.S563N|PHLDB2_uc003dyh.2_Missense_Mutation_p.S563N|PHLDB2_uc003dyi.2_Missense_Mutation_p.S149N|PHLDB2_uc003dyf.3_Missense_Mutation_p.S563N NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 563 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AAAGCTTCCAGCGAGTCCTCT 0.498 NR1I2 8856 broad.mit.edu 37 3 119531555 119531555 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:119531555G>A uc003edj.2 + 5 2381 c.542G>A c.(541-543)GGC>GAC p.G181D NR1I2_uc003edi.2_Intron|NR1I2_uc003edk.2_Missense_Mutation_p.G220D|NR1I2_uc003edl.2_Missense_Mutation_p.G69D NM_003889 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 181 Hinge. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) CTTAGCAGTGGCTGCGAGTTG 0.587 SEC22A 26984 broad.mit.edu 37 3 122928161 122928161 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:122928161T>C uc003ege.2 + 2 176 c.97T>C c.(97-99)TGC>CGC p.C33R SEC22A_uc003egf.2_Missense_Mutation_p.C33R NM_012430 NP_036562 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A 33 Cytoplasmic (Potential).|Longin. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0548) AATGCAGGAGTGCAGAAAGTA 0.373 CEP63 80254 broad.mit.edu 37 3 134267988 134267988 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:134267988T>C uc003eqo.1 + 11 1601 c.1152T>C c.(1150-1152)CAT>CAC p.H384H CEP63_uc003eql.1_Silent_p.H338H|CEP63_uc003eqm.2_Silent_p.H338H|CEP63_uc003eqn.1_Silent_p.H384H|CEP63_uc003eqp.1_Silent_p.H13H NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 384 Potential. cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 TGGAAGCACATAACAATGAAT 0.358 ATR 545 broad.mit.edu 37 3 142259852 142259852 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:142259852T>A uc003eux.3 - 18 3597 c.3475A>T c.(3475-3477)ATG>TTG p.M1159L NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1159 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 ATTAACTTCATCAAAGACATC 0.428 Other_conserved_DNA_damage_response_genes CHST2 9435 broad.mit.edu 37 3 142840454 142840454 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:142840454G>A uc003evm.2 + 2 1685 c.796G>A c.(796-798)GCC>ACC p.A266T NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 266 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 ACTCTGCCCCGCCTACCGCAA 0.677 IGSF10 285313 broad.mit.edu 37 3 151160982 151160982 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:151160982A>G uc011bod.1 - 5 5753 c.5753T>C c.(5752-5754)ATT>ACT p.I1918T IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1918 Ig-like C2-type 5. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACTGGTAGCAATGCATTCATA 0.433 PLCH1 23007 broad.mit.edu 37 3 155271897 155271897 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:155271897C>T uc011bok.1 - 8 1399 c.1122G>A c.(1120-1122)GAG>GAA p.E374E PLCH1_uc011boj.1_Silent_p.E374E|PLCH1_uc011bol.1_Silent_p.E356E NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 374 PI-PLC X-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGTTGATGGTCTCCACAACAT 0.468 MFSD1 64747 broad.mit.edu 37 3 158545116 158545116 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:158545116T>C uc003fcl.1 + 15 1414 c.1384T>C c.(1384-1386)TCC>CCC p.S462P MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.S365P|MFSD1_uc011bow.1_Missense_Mutation_p.S423P|MFSD1_uc011box.1_Missense_Mutation_p.S389P NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 462 transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) AATAAAATTTTCCCATACTGA 0.279 WDR49 151790 broad.mit.edu 37 3 167218047 167218047 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:167218047C>G uc003fev.1 - 14 2175 c.1869G>C c.(1867-1869)CTG>CTC p.L623L WDR49_uc003feu.1_Silent_p.L448L|WDR49_uc011bpd.1_Silent_p.L588L|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 623 large_intestine(1)|ovary(1)|skin(1) 3 TCACTTCAGGCAGCTCTTCCA 0.443 NLGN1 22871 broad.mit.edu 37 3 173997321 173997321 + Silent SNP C C A rs140933912 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:173997321C>A uc003fio.1 + 6 1953 c.1530C>A c.(1528-1530)CCC>CCA p.P510P NLGN1_uc010hww.1_Silent_p.P550P|NLGN1_uc003fip.1_Silent_p.P510P NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 527 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ACGAGGTTCCCTATGTACTGG 0.458 NLGN1 22871 broad.mit.edu 37 3 173998407 173998407 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:173998407G>C uc003fio.1 + 7 2209 c.1786G>C c.(1786-1788)GAA>CAA p.E596Q NLGN1_uc003fip.1_Missense_Mutation_p.E596Q NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 613 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AAGAGTTAAAGAACATTACAG 0.383 EPHB3 2049 broad.mit.edu 37 3 184295229 184295229 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:184295229G>T uc003foz.2 + 6 1890 c.1453G>T c.(1453-1455)GAC>TAC p.D485Y NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 485 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) AGTCATCCTGGACTACGAGAT 0.602 OPA1 4976 broad.mit.edu 37 3 193335014 193335014 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:193335014G>C uc003ftm.2 + 4 730 c.496G>C c.(496-498)GCA>CCA p.A166P OPA1_uc003ftg.2_Missense_Mutation_p.A166P|OPA1_uc003fth.2_Intron|OPA1_uc003fti.2_Missense_Mutation_p.A166P|OPA1_uc003ftj.2_Missense_Mutation_p.A166P|OPA1_uc003ftk.2_Intron|OPA1_uc003ftl.2_Intron|OPA1_uc003ftn.2_Intron NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 166 Mitochondrial intermembrane (By similarity). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TGTAAAGTTAGCACCAGACTT 0.303 FAM193A 8603 broad.mit.edu 37 4 2696824 2696824 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:2696824T>A uc010icl.2 + 15 2722 c.2371T>A c.(2371-2373)TGC>AGC p.C791S FAM193A_uc010ick.2_Missense_Mutation_p.C991S|FAM193A_uc003gfd.2_Missense_Mutation_p.C791S|FAM193A_uc011bvm.1_Missense_Mutation_p.C813S|FAM193A_uc011bvn.1_Missense_Mutation_p.C791S|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_Intron|FAM193A_uc003gfe.2_Missense_Mutation_p.C645S NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 791 ovary(3) 3 GTACTGCGACTGCTGCTACTG 0.572 CCDC149 91050 broad.mit.edu 37 4 24838869 24838869 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:24838869C>T uc011bxr.1 - 7 787 c.643G>A c.(643-645)GCC>ACC p.A215T CCDC149_uc003grc.2_Missense_Mutation_p.A215T|CCDC149_uc003grb.2_RNA|CCDC149_uc003grd.2_Intron|CCDC149_uc003gre.2_Missense_Mutation_p.A160T|CCDC149_uc011bxq.1_Missense_Mutation_p.A88T NM_173463 NP_775734 B4DZG3 B4DZG3_HUMAN coiled-coil domain containing 149 isoform 1 215 0 Breast(46;0.173) ATACACAGGGCGTCCACGTCA 0.582 PGM2 55276 broad.mit.edu 37 4 37848854 37848854 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:37848854A>G uc011byb.1 + 10 1293 c.1220A>G c.(1219-1221)AAC>AGC p.N407S PGM2_uc011bya.1_Missense_Mutation_p.N268S|PGM2_uc011byc.1_Missense_Mutation_p.N247S NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 407 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 TGGATGGGAAACAGAGCCAAA 0.378 GUF1 60558 broad.mit.edu 37 4 44684428 44684428 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:44684428G>T uc003gww.3 + 5 792 c.585G>T c.(583-585)AAG>AAT p.K195N GUF1_uc010ifz.1_RNA NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 195 GTP (By similarity). translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 TTATAAATAAGGTAATTACAA 0.338 GABRA4 2557 broad.mit.edu 37 4 46967014 46967014 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:46967014T>C uc003gxg.2 - 8 1246 c.1107A>G c.(1105-1107)AGA>AGG p.R369R NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 369 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATGCTTCTCTCTCTGCACTG 0.423 OCIAD1 54940 broad.mit.edu 37 4 48852083 48852083 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:48852083C>T uc003gyo.2 + 6 618 c.361C>T c.(361-363)CGA>TGA p.R121* OCIAD1_uc011bzk.1_RNA|OCIAD1_uc003gyr.2_Nonsense_Mutation_p.R121*|OCIAD1_uc003gyp.2_Nonsense_Mutation_p.R121*|OCIAD1_uc003gys.2_Nonsense_Mutation_p.R121*|OCIAD1_uc003gyq.2_Nonsense_Mutation_p.R121*|OCIAD1_uc010igk.2_Nonsense_Mutation_p.R126* NM_017830 NP_060300 Q9NX40 OCAD1_HUMAN OCIA domain containing 1 isoform 1 121 endosome protein binding 0 ACAAGCACGACGATCTTCACC 0.373 LRRC66 339977 broad.mit.edu 37 4 52862042 52862042 + Silent SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:52862042T>G uc003gzi.2 - 4 1159 c.1146A>C c.(1144-1146)TCA>TCC p.S382S NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 382 Helical; (Potential). integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TGATGAACACTGACAGGCACA 0.572 KIT 3815 broad.mit.edu 37 4 55594223 55594223 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:55594223A>C uc010igr.2 + 13 2013 c.1926A>C c.(1924-1926)AAA>AAC p.K642N KIT_uc010igs.2_Missense_Mutation_p.K638N|KIT_uc010igt.1_Missense_Mutation_p.K91N NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 642 Protein kinase.|Cytoplasmic (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.K642E(55)|p.K642Q(1) soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTGAACTCAAAGTCCTGAGTT 0.438 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors KDR 3791 broad.mit.edu 37 4 55958806 55958806 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:55958806A>T uc003has.2 - 22 3349 c.3047T>A c.(3046-3048)ATG>AAG p.M1016K KDR_uc003hat.1_Missense_Mutation_p.M1016K NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1016 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CAAGAACTCCATGCCCTTAGC 0.473 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) CLOCK 9575 broad.mit.edu 37 4 56345861 56345861 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:56345861T>G uc003haz.1 - 6 979 c.53A>C c.(52-54)GAC>GCC p.D18A CLOCK_uc003hba.1_Missense_Mutation_p.D18A NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 18 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) AATACTACTGTCATCTCTAAA 0.318 TMPRSS11D 9407 broad.mit.edu 37 4 68693133 68693133 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:68693133A>G uc003hdq.2 - 8 863 c.798T>C c.(796-798)TCT>TCC p.S266S LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Silent_p.S47S|TMPRSS11D_uc011caj.1_Silent_p.S149S NM_004262 NP_004253 O60235 TM11D_HUMAN transmembrane protease, serine 11D 266 Peptidase S1.|Extracellular (Potential). proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 CATGAGTTGCAGATTTATAAT 0.373 TMPRSS11F 389208 broad.mit.edu 37 4 68930432 68930432 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:68930432A>G uc003hdt.1 - 8 1035 c.986T>C c.(985-987)GTC>GCC p.V329A LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 329 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 AAATCCTGTGACGAACACACT 0.393 RASSF6 166824 broad.mit.edu 37 4 74453644 74453644 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:74453644G>A uc003hhd.1 - 5 514 c.391C>T c.(391-393)CGC>TGC p.R131C RASSF6_uc003hhc.1_Missense_Mutation_p.R99C|RASSF6_uc010iik.1_Missense_Mutation_p.R99C|RASSF6_uc010iil.1_Missense_Mutation_p.R87C NM_201431 NP_958834 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family 6 131 apoptosis|signal transduction protein binding pancreas(2) 2 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TCCCCCCAGCGTGTCATTCTG 0.368 SCD5 79966 broad.mit.edu 37 4 83719567 83719567 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:83719567G>A uc003hna.2 - 1 444 c.124C>T c.(124-126)CGG>TGG p.R42W SCD5_uc003hnb.3_Missense_Mutation_p.R42W|SCD5_uc003hnc.2_Missense_Mutation_p.R42W NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 isoform a 42 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity ovary(1) 1 Colorectal(4;0.0323)|Hepatocellular(203;0.115) ATGTTCTGCCGCTGCCCGCGC 0.647 SEC31A 22872 broad.mit.edu 37 4 83783724 83783724 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:83783724A>G uc003hnf.2 - 13 1675 c.1511T>C c.(1510-1512)ATT>ACT p.I504T SEC31A_uc003hne.2_Intron|SEC31A_uc011ccl.1_Intron|SEC31A_uc003hnl.2_Intron|SEC31A_uc003hng.2_Missense_Mutation_p.I504T|SEC31A_uc003hnh.2_Missense_Mutation_p.I504T|SEC31A_uc003hni.2_Missense_Mutation_p.I504T|SEC31A_uc003hnj.2_Intron|SEC31A_uc011ccm.1_Missense_Mutation_p.I499T|SEC31A_uc011ccn.1_Missense_Mutation_p.I504T|SEC31A_uc003hnk.2_Intron|SEC31A_uc003hnm.2_Missense_Mutation_p.I504T|SEC31A_uc003hnn.1_Missense_Mutation_p.I504T NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 504 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) GGCCAAAGCAATCTGAAATAA 0.393 WDFY3 23001 broad.mit.edu 37 4 85781643 85781643 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:85781643C>G uc003hpd.2 - 4 510 c.102G>C c.(100-102)GAG>GAC p.E34D WDFY3_uc003hpf.2_Missense_Mutation_p.E34D NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 34 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GATGGCACAACTCCGTGAAGA 0.552 INTS12 57117 broad.mit.edu 37 4 106616707 106616707 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:106616707A>C uc003hxw.2 - 4 533 c.275T>G c.(274-276)GTA>GGA p.V92G INTS12_uc010ilr.2_Missense_Mutation_p.V92G NM_020395 NP_065128 Q96CB8 INT12_HUMAN integrator complex subunit 12 92 snRNA processing integrator complex protein binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) TTCCTTCTTTACCTTTTCAGT 0.323 INTU 27152 broad.mit.edu 37 4 128564847 128564847 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:128564847G>A uc003ifk.1 + 2 388 c.318G>A c.(316-318)AAG>AAA p.K106K INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 106 ovary(1) 1 AAAGAAAAAAGTATGAACCCA 0.358 PCDH18 54510 broad.mit.edu 37 4 138451552 138451552 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:138451552A>C uc003ihe.3 - 1 2078 c.1691T>G c.(1690-1692)CTC>CGC p.L564R PCDH18_uc003ihf.3_Missense_Mutation_p.L557R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.L344R|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 564 Extracellular (Potential).|Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) AATGATGGTGAGCACAACTGT 0.453 ZNF827 152485 broad.mit.edu 37 4 146697023 146697023 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:146697023G>C uc003ikn.2 - 10 2659 c.2611C>G c.(2611-2613)CTG>GTG p.L871V ZNF827_uc003ikm.2_Missense_Mutation_p.L871V|ZNF827_uc010iox.2_Missense_Mutation_p.L521V|ZNF827_uc003ikl.2_5'UTR NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 871 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) GTACTCACCAGCTTCACGGAA 0.498 LRBA 987 broad.mit.edu 37 4 151849711 151849711 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:151849711A>T uc010ipj.2 - 4 980 c.506T>A c.(505-507)CTA>CAA p.L169Q LRBA_uc003ilu.3_Missense_Mutation_p.L169Q|LRBA_uc010ipk.1_Missense_Mutation_p.L88Q NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 169 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) GAAAAGCTTTAGCTCGCGAAC 0.358 FHDC1 85462 broad.mit.edu 37 4 153896551 153896551 + Missense_Mutation SNP C C T rs147950044 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:153896551C>T uc003inf.2 + 11 2183 c.2108C>T c.(2107-2109)CCG>CTG p.P703L NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 703 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) GACTTCAGCCCGATGGAGCTA 0.622 PLRG1 5356 broad.mit.edu 37 4 155461762 155461762 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:155461762C>T uc003iny.2 - 10 986 c.923G>A c.(922-924)CGA>CAA p.R308Q PLRG1_uc003inz.2_Missense_Mutation_p.R299Q|PLRG1_uc011cil.1_Missense_Mutation_p.R147Q NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 308 WD 3. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) AGTTGAATCTCGACTACAGGT 0.398 ACCN5 51802 broad.mit.edu 37 4 156775402 156775402 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:156775402C>A uc003ipe.1 - 3 459 c.412G>T c.(412-414)GTC>TTC p.V138F NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN amiloride-sensitive cation channel 5, 138 Extracellular (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141) AGATGGAGGACTTTGGATACA 0.383 TDO2 6999 broad.mit.edu 37 4 156825181 156825181 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:156825181A>C uc003ipf.1 + 2 111 c.47A>C c.(46-48)AAA>ACA p.K16T NM_005651 NP_005642 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 16 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity 0 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TATACTTTTAAAAAACTCCCC 0.353 FAM198B 51313 broad.mit.edu 37 4 159092149 159092149 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:159092149G>A uc003ipp.3 - 2 831 c.379C>T c.(379-381)CCC>TCC p.P127S uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.P127S|FAM198B_uc003ipr.3_Missense_Mutation_p.P127S|FAM198B_uc003ips.2_Missense_Mutation_p.P127S|uc003ipt.1_RNA NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 127 Extracellular (Potential). Golgi membrane|integral to membrane 0 CTGCGCTTGGGCTTCACGGTG 0.612 TLL1 7092 broad.mit.edu 37 4 166915670 166915670 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:166915670G>A uc003irh.1 + 4 1146 c.499G>A c.(499-501)GGA>AGA p.G167R TLL1_uc011cjn.1_Missense_Mutation_p.G167R|TLL1_uc011cjo.1_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 167 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTATGTTATAGGAGGAAACTT 0.358 TRIP13 9319 broad.mit.edu 37 5 914598 914598 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:914598C>T uc003jbr.2 + 11 1149 c.1039C>T c.(1039-1041)CGC>TGC p.R347C NM_004237 NP_004228 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 347 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity 0 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CATATACCCTCGCCAGCAGCT 0.512 SRD5A1 6715 broad.mit.edu 37 5 6633932 6633932 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:6633932C>G uc003jdw.2 + 1 433 c.243C>G c.(241-243)AGC>AGG p.S81R NSUN2_uc003jdu.2_5'Flank|NSUN2_uc011cmk.1_5'Flank|NSUN2_uc003jdv.2_5'Flank|SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.A90G NM_001047 NP_001038 P18405 S5A1_HUMAN steroid-5-alpha-reductase 1 81 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity 0 Dutasteride(DB01126)|Finasteride(DB01216) GTCTCCGCAGCGCGCCCAACT 0.736 PAPD7 11044 broad.mit.edu 37 5 6753132 6753132 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:6753132C>T uc003jdx.1 + 12 1545 c.1416C>T c.(1414-1416)AGC>AGT p.S472S PAPD7_uc011cmn.1_Silent_p.S463S|PAPD7_uc010itl.1_Silent_p.S292S NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 472 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 CGCTCTCGAGCCCTCATCTGT 0.537 DNAH5 1767 broad.mit.edu 37 5 13752383 13752383 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:13752383G>C uc003jfd.2 - 64 10930 c.10888C>G c.(10888-10890)CAC>GAC p.H3630D DNAH5_uc003jfc.2_Translation_Start_Site NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3630 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AAGTACTTGTGATTTAAAGAC 0.413 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13919307 13919307 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:13919307G>A uc003jfd.2 - 7 995 c.953C>T c.(952-954)GCG>GTG p.A318V DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 318 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CGACTTGGCCGCCGCAAGCAC 0.458 Kartagener_syndrome TRIO 7204 broad.mit.edu 37 5 14369554 14369554 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:14369554G>T uc003jff.2 + 18 3144 c.3138G>T c.(3136-3138)AAG>AAT p.K1046N TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.K997N|TRIO_uc003jfh.1_Missense_Mutation_p.K695N NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1046 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GGGCGGATAAGCTGGGCCCAA 0.587 PRDM9 56979 broad.mit.edu 37 5 23524462 23524462 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:23524462G>A uc003jgo.2 + 10 1152 c.970G>A c.(970-972)GAT>AAT p.D324N NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 324 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CTGTGCCCGGGATGATGAAGA 0.537 HNSCC(3;0.000094) RAD1 5810 broad.mit.edu 37 5 34914837 34914837 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:34914837T>C uc003jix.2 - 2 490 c.161A>G c.(160-162)GAA>GGA p.E54G RAD1_uc003jiw.2_5'UTR|RAD1_uc003jiy.2_Missense_Mutation_p.E54G|BRIX1_uc003jiz.2_5'Flank|BRIX1_uc011col.1_5'Flank|BRIX1_uc003jja.2_5'Flank NM_002853 NP_002844 O60671 RAD1_HUMAN RAD1 homolog 54 DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I nucleoplasm 3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding 0 all_lung(31;0.000107) Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) CTTTGCATTTTCCACTGTTAC 0.383 Other_conserved_DNA_damage_response_genes SPEF2 79925 broad.mit.edu 37 5 35700701 35700701 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:35700701A>G uc003jjo.2 + 16 2356 c.2245A>G c.(2245-2247)ACA>GCA p.T749A SPEF2_uc003jjq.3_Missense_Mutation_p.T744A|SPEF2_uc003jjp.1_Missense_Mutation_p.T235A NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 749 Potential. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TAGAAACCTCACAGAAGTGGA 0.403 IL6ST 3572 broad.mit.edu 37 5 55260015 55260015 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:55260015T>G uc003jqq.2 - 6 872 c.617A>C c.(616-618)AAG>ACG p.K206T IL6ST_uc010iwb.2_Missense_Mutation_p.K206T|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_5'UTR|IL6ST_uc003jqr.2_Missense_Mutation_p.K206T|IL6ST_uc010iwf.1_RNA NM_002184 NP_002175 P40189 IL6RB_HUMAN interleukin 6 signal transducer isoform 1 206 Extracellular (Potential).|Fibronectin type-III 1. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity large_intestine(1)|ovary(1) 2 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) TGATGTAACCTTCCCAAGGGC 0.363 O hepatocellular ca RNF180 285671 broad.mit.edu 37 5 63510031 63510031 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:63510031A>G uc003jti.2 + 4 988 c.878A>G c.(877-879)CAA>CGA p.Q293R RNF180_uc003jth.3_Missense_Mutation_p.Q293R|RNF180_uc010iws.2_Intron NM_001113561 NP_001107033 Q86T96 RN180_HUMAN ring finger protein 180 isoform 1 293 Interaction with ZIC2 (By similarity).|Cytoplasmic (Potential). integral to membrane|nuclear envelope zinc ion binding 0 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) ATGCTGCTGCAAAGATTTTCA 0.423 IQGAP2 10788 broad.mit.edu 37 5 75886244 75886244 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:75886244G>T uc003kek.2 + 8 874 c.652G>T c.(652-654)GTT>TTT p.V218F NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 218 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACATGCTGCAGTTATAGCCAT 0.378 RHOBTB3 22836 broad.mit.edu 37 5 95119546 95119546 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:95119546A>G uc003klm.2 + 10 2039 c.1502A>G c.(1501-1503)TAC>TGC p.Y501C NM_014899 NP_055714 O94955 RHBT3_HUMAN rho-related BTB domain containing 3 501 Interaction with Rab9. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding lung(1)|skin(1) 2 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) GCCGAGATGTACCAAGTGTCC 0.468 CHSY3 337876 broad.mit.edu 37 5 129520970 129520970 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:129520970C>T uc003kvd.2 + 3 2135 c.2135C>T c.(2134-2136)ACT>ATT p.T712I NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 712 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 ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) GACAATGACACTTTGCTGCTA 0.428 TGFBI 7045 broad.mit.edu 37 5 135383090 135383090 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:135383090A>G uc003lbf.3 + 6 913 c.752A>G c.(751-753)GAC>GGC p.D251G TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Missense_Mutation_p.D77G|TGFBI_uc011cyb.1_Missense_Mutation_p.D77G|TGFBI_uc010jed.2_5'Flank NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 251 FAS1 2. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAGATCGAGGACACCTTTGAG 0.572 EGR1 1958 broad.mit.edu 37 5 137802687 137802687 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:137802687C>T uc003ldb.1 + 2 819 c.549C>T c.(547-549)TCC>TCT p.S183S EGR1_uc011cyu.1_Intron NM_001964 NP_001955 P18146 EGR1_HUMAN early growth response 1 183 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCTCCGCCTCCGCCTCCCAGA 0.647 HSPA9 3313 broad.mit.edu 37 5 137894317 137894317 + Silent SNP C C T rs149852902 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:137894317C>T uc003ldf.2 - 12 1548 c.1440G>A c.(1438-1440)ACG>ACA p.T480T HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Silent_p.T411T NM_004134 NP_004125 P38646 GRP75_HUMAN heat shock 70kDa protein 9 precursor 480 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTTCCACTTGCGTTTGACCAT 0.413 PCDHA12 56137 broad.mit.edu 37 5 140256667 140256667 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140256667C>T uc003lic.2 + 1 1737 c.1610C>T c.(1609-1611)GCG>GTG p.A537V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A537V NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 537 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGAGCGCGCGCGACGCC 0.687 PCDHAC1 56135 broad.mit.edu 37 5 140307999 140307999 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140307999A>G uc003lih.2 + 1 1698 c.1522A>G c.(1522-1524)ACT>GCT p.T508A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.T508A NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 508 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGGCCATCACTGCCAAAAC 0.512 PCDHB1 29930 broad.mit.edu 37 5 140433387 140433387 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140433387T>A uc003lik.1 + 1 2409 c.2332T>A c.(2332-2334)TTC>ATC p.F778I NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 778 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TATGCCCAACTTCCCTTTCCC 0.468 PCDHB2 56133 broad.mit.edu 37 5 140475743 140475743 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140475743T>C uc003lil.2 + 1 1507 c.1369T>C c.(1369-1371)TCC>CCC p.S457P PCDHB2_uc003lim.1_Missense_Mutation_p.S118P NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 457 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCCAAACCTCCTACACCCT 0.622 PCDHB8 56128 broad.mit.edu 37 5 140559252 140559252 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140559252C>T uc011dai.1 + 1 1823 c.1637C>T c.(1636-1638)GCG>GTG p.A546V PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 546 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCAGCGAGGCGCTGGTGCGC 0.697 PCDHB13 56123 broad.mit.edu 37 5 140594824 140594824 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140594824G>T uc003lja.1 + 1 1316 c.1129G>T c.(1129-1131)GGA>TGA p.G377* NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 377 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTTGATTCAGGAGAAAATGG 0.463 PCDHB15 56121 broad.mit.edu 37 5 140625761 140625761 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140625761G>T uc003lje.2 + 1 615 c.615G>T c.(613-615)CAG>CAT p.Q205H NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 205 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGAGGAGCAGGCCGAGCTCA 0.562 PCDHGB3 56102 broad.mit.edu 37 5 140751508 140751508 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140751508C>T uc003ljw.1 + 1 1547 c.1547C>T c.(1546-1548)GCG>GTG p.A516V 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.A516V|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 516 Extracellular (Potential).|Cadherin 5. 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) GTGGTGTTCGCGCAGCGAGCC 0.677 PCDHGA6 56109 broad.mit.edu 37 5 140754789 140754789 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140754789G>C uc003ljy.1 + 1 1139 c.1139G>C c.(1138-1140)GGC>GCC p.G380A 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_uc011dau.1_Missense_Mutation_p.G380A NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 380 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCTGAATGGCCTGGTAACC 0.453 PCDHGA8 9708 broad.mit.edu 37 5 140772926 140772926 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140772926G>T uc003lkd.1 + 1 1444 c.546G>T c.(544-546)GTG>GTT p.V182V 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_uc003lkb.3_Silent_p.V182V NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 182 Extracellular (Potential).|Cadherin 2. 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) CCCTGGACGTGCAGACTGGAG 0.617 PCDHGB7 56099 broad.mit.edu 37 5 140798806 140798806 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140798806C>T uc003lkn.1 + 1 1525 c.1380C>T c.(1378-1380)CAC>CAT p.H460H 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_uc003lkm.2_Silent_p.H460H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 460 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGGTCCACGTGCCAGAAA 0.572 DIAPH1 1729 broad.mit.edu 37 5 140906001 140906001 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140906001A>G uc003llb.3 - 26 3442 c.3301T>C c.(3301-3303)TAT>CAT p.Y1101H DIAPH1_uc011dbd.1_5'UTR|DIAPH1_uc003llc.3_Missense_Mutation_p.Y1092H NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 1101 Potential.|FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTTGTTATACTGTTCCTGT 0.408 DIAPH1 1729 broad.mit.edu 37 5 140908386 140908386 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140908386T>G uc003llb.3 - 23 3042 c.2901A>C c.(2899-2901)TTA>TTC p.L967F DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Missense_Mutation_p.L958F|DIAPH1_uc010jgc.1_Missense_Mutation_p.L403F NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 967 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTCTTACGTAACTCCTCAC 0.453 PCDH12 51294 broad.mit.edu 37 5 141329002 141329002 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:141329002C>T uc003llx.2 - 3 4336 c.3125G>A c.(3124-3126)AGC>AAC p.S1042N NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 1042 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTACCTGTGCTGGGGTCCAG 0.552 HTR4 3360 broad.mit.edu 37 5 147889351 147889351 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:147889351A>G uc003lpn.2 - 6 908 c.744T>C c.(742-744)ACT>ACC p.T248T HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Silent_p.T248T|HTR4_uc003lpj.1_Silent_p.T248T|HTR4_uc003lpk.2_Silent_p.T248T|HTR4_uc011dby.1_Silent_p.T248T|HTR4_uc003lpl.2_Silent_p.T262T|HTR4_uc003lpm.2_Silent_p.T248T|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Silent_p.T248T NM_000870 NP_000861 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform b 248 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TCATGCGATGAGTGCTATGCT 0.542 ODZ2 57451 broad.mit.edu 37 5 167489185 167489185 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:167489185A>G uc010jjd.2 + 7 1430 c.1430A>G c.(1429-1431)CAG>CGG p.Q477R ODZ2_uc003lzq.2_Missense_Mutation_p.Q356R|ODZ2_uc003lzr.3_Missense_Mutation_p.Q245R NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AGTCAGCCCCAGTTCTTAAAG 0.493 DOCK2 1794 broad.mit.edu 37 5 169461447 169461447 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:169461447T>G uc003maf.2 + 35 3592 c.3512T>G c.(3511-3513)GTG>GGG p.V1171G DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.V663G NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1171 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCAAGTCGGTGGAGAACTTC 0.572 DOCK2 1794 broad.mit.edu 37 5 169506041 169506041 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:169506041C>T uc003maf.2 + 49 5137 c.5057C>T c.(5056-5058)CCG>CTG p.P1686L DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.P1178L|DOCK2_uc003mah.2_Missense_Mutation_p.P242L NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1686 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGATCTCCCCGGGGAGCACC 0.557 NKX2-5 1482 broad.mit.edu 37 5 172660043 172660043 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:172660043G>A uc003mcm.1 - 2 680 c.504C>T c.(502-504)CGC>CGT p.R168R NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR NM_004387 NP_004378 P52952 NKX25_HUMAN NK2 transcription factor related, locus 5 168 Homeobox. adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CCAGCTGGTCGCGTTCGGGGG 0.662 RREB1 6239 broad.mit.edu 37 6 7226887 7226887 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:7226887C>G uc003mxc.2 + 9 1285 c.895C>G c.(895-897)CAG>GAG p.Q299E RREB1_uc003mxb.2_Missense_Mutation_p.Q299E|RREB1_uc010jnx.2_Missense_Mutation_p.Q299E NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 299 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) TCGCATTTCTCAGGTATTCTG 0.483 SNRNP48 154007 broad.mit.edu 37 6 7601644 7601644 + Missense_Mutation SNP G G A rs143226311 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:7601644G>A uc003mxr.2 + 5 541 c.482G>A c.(481-483)CGT>CAT p.R161H SNRNP48_uc003mxs.2_RNA NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN U11/U12 snRNP 48K 161 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding 0 CAAGCTGATCGTCTTGCCCTC 0.368 NEDD9 4739 broad.mit.edu 37 6 11190485 11190485 + Silent SNP G G A rs146690144 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:11190485G>A uc003mzv.2 - 5 1784 c.1617C>T c.(1615-1617)CCC>CCT p.P539P NEDD9_uc010joz.2_Silent_p.P539P|NEDD9_uc003mzw.3_Silent_p.P393P NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 539 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TGGCGTCATCGGGCACCGTCT 0.562 JARID2 3720 broad.mit.edu 37 6 15501398 15501398 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:15501398C>A uc003nbj.2 + 8 2450 c.2206C>A c.(2206-2208)CCG>ACG p.P736T JARID2_uc011div.1_Missense_Mutation_p.P564T|JARID2_uc011diw.1_Missense_Mutation_p.P698T NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 736 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GCGCAAGGGGCCGCTGGAAGG 0.637 HIST1H2AH 85235 broad.mit.edu 37 6 27114929 27114929 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:27114929G>T uc003niz.2 + 1 22 c.22G>T c.(22-24)GGC>TGC p.G8C HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080596 NP_542163 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 8 nucleosome assembly nucleosome|nucleus DNA binding 0 TGGCAAGCAAGGCGGTAAAGC 0.557 DDR1 780 broad.mit.edu 37 6 30865334 30865334 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:30865334G>C uc003nrr.2 + 16 2435 c.2176G>C c.(2176-2178)GCC>CCC p.A726P DDR1_uc010jse.2_Missense_Mutation_p.A689P|DDR1_uc003nrq.2_Missense_Mutation_p.A689P|DDR1_uc003nrs.2_Missense_Mutation_p.A726P|DDR1_uc003nrt.2_Missense_Mutation_p.A689P|DDR1_uc011dms.1_Missense_Mutation_p.A707P|DDR1_uc003nru.2_Missense_Mutation_p.A689P|DDR1_uc003nrv.2_Missense_Mutation_p.A732P|DDR1_uc003nrw.1_Missense_Mutation_p.A461P|DDR1_uc003nrz.1_Missense_Mutation_p.A51P NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 726 Cytoplasmic (Potential).|Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) AGCCGAGGGGGCCCCTGGGGA 0.647 DPCR1 135656 broad.mit.edu 37 6 30919972 30919972 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:30919972C>A uc003nsg.2 + 2 3731 c.3731C>A c.(3730-3732)CCT>CAT p.P1244H NM_080870 NP_543146 Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 368 Extracellular (Potential).|Thr-rich. integral to membrane 0 ACTATAAAACCTTCAGTCAAG 0.443 BAT5 7920 broad.mit.edu 37 6 31655315 31655315 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:31655315T>G uc003nvy.1 - 19 1583 c.1553A>C c.(1552-1554)GAC>GCC p.D518A BAT5_uc003nvx.1_Missense_Mutation_p.D299A|BAT5_uc011dny.1_Missense_Mutation_p.D485A|BAT5_uc003nvz.1_Missense_Mutation_p.D299A|BAT5_uc011dnz.1_Missense_Mutation_p.D299A NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 518 integral to membrane hydrolase activity|protein binding 0 TGCACTCATGTCCTCCCCTGC 0.587 TAP1 6890 broad.mit.edu 37 6 32821354 32821354 + Silent SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:32821354G>C uc003ocg.2 - 1 395 c.240C>G c.(238-240)CTC>CTG p.L80L TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 80 Helical; Name=1; (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 CCAGCCATGCGAGAGAAGCTC 0.711 MDGA1 266727 broad.mit.edu 37 6 37619916 37619916 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:37619916C>T uc003onu.1 - 7 2362 c.1183G>A c.(1183-1185)GCA>ACA p.A395T MDGA1_uc003onw.3_RNA NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 395 Ig-like 4. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 CTGGTGACTGCGGGCAGCTCA 0.602 PGC 5225 broad.mit.edu 37 6 41705491 41705491 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:41705491G>C uc003ora.1 - 8 1040 c.991C>G c.(991-993)CCA>GCA p.P331A TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 331 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GAGGAAGGTGGCAGAGGGAAC 0.532 TRERF1 55809 broad.mit.edu 37 6 42227283 42227283 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:42227283C>T uc003osd.2 - 9 2626 c.2063G>A c.(2062-2064)CGC>CAC p.R688H TRERF1_uc011duq.1_Missense_Mutation_p.R605H|TRERF1_uc003osb.2_Missense_Mutation_p.R444H|TRERF1_uc003osc.2_Missense_Mutation_p.R444H|TRERF1_uc003ose.2_Missense_Mutation_p.R708H NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 688 Pro-rich.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCGCGGGGAGCGCAGCTGGCT 0.731 CUL7 9820 broad.mit.edu 37 6 43013029 43013029 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:43013029G>A uc003otq.2 - 15 3277 c.2974C>T c.(2974-2976)CGG>TGG p.R992W CUL7_uc010jyg.2_Missense_Mutation_p.R271W|CUL7_uc011dvb.1_Missense_Mutation_p.R1076W|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 992 DOC. interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCCTGTGCCCGAACCATGTAG 0.602 ABCC10 89845 broad.mit.edu 37 6 43415496 43415496 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:43415496G>A uc003ouy.1 + 18 3995 c.3780G>A c.(3778-3780)CCG>CCA p.P1260P ABCC10_uc003ouz.1_Silent_p.P1232P|ABCC10_uc010jyo.1_Silent_p.P366P NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 1260 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CAGGGCTGCCGAATGCCCTGG 0.657 PKHD1 5314 broad.mit.edu 37 6 51907739 51907739 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:51907739G>A uc003pah.1 - 27 3291 c.3015C>T c.(3013-3015)GCC>GCT p.A1005A PKHD1_uc003pai.2_Silent_p.A1005A NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1005 IPT/TIG 4.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TGGCACTGATGGCAAGACCAG 0.473 MCM3 4172 broad.mit.edu 37 6 52133966 52133966 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:52133966G>A uc003pan.1 - 13 1996 c.1886C>T c.(1885-1887)GCG>GTG p.A629V MCM3_uc011dwu.1_Missense_Mutation_p.A583V NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 629 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) GCGGGCCTTCGCATGGGCTGT 0.507 EFHC1 114327 broad.mit.edu 37 6 52329713 52329713 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:52329713C>T uc003pap.3 + 6 1152 c.937C>T c.(937-939)CTA>TTA p.L313L EFHC1_uc011dwv.1_Silent_p.L222L|EFHC1_uc011dww.1_Silent_p.L294L NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 313 DM10 2. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) TCAGTGTGTGCTAGAAATCTC 0.393 FAM83B 222584 broad.mit.edu 37 6 54805046 54805046 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:54805046C>T uc003pck.2 + 5 1393 c.1277C>T c.(1276-1278)GCG>GTG p.A426V NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 426 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) CTCAGTGTGGCGTCCTCATCA 0.483 COL21A1 81578 broad.mit.edu 37 6 56006611 56006611 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:56006611T>C uc003pcs.2 - 12 1746 c.1514A>G c.(1513-1515)AAA>AGA p.K505R COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.K505R|COL21A1_uc003pcu.1_Missense_Mutation_p.K502R NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 505 Collagen-like 1. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TGGTTCTCCTTTGTAACCTGG 0.338 BAI3 577 broad.mit.edu 37 6 69665963 69665963 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:69665963A>C uc003pev.3 + 7 1691 c.1243A>C c.(1243-1245)ACG>CCG p.T415P BAI3_uc010kak.2_Missense_Mutation_p.T415P NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 415 TSP type-1 3.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GTGCTCAGTAACGTGCTCGAA 0.537 EEF1A1 1915 broad.mit.edu 37 6 74228300 74228300 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:74228300G>C uc003phi.2 - 5 843 c.806C>G c.(805-807)ACT>AGT p.T269S EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.T259S|EEF1A1_uc003phf.2_Missense_Mutation_p.T269S|EEF1A1_uc003phg.2_Missense_Mutation_p.T269S|EEF1A1_uc003phh.2_Missense_Mutation_p.T115S|EEF1A1_uc003phj.2_Missense_Mutation_p.T269S|EEF1A1_uc003phk.2_Missense_Mutation_p.T269S|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 269 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 GAGAACACCAGTCTCCACTCG 0.423 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay MDN1 23195 broad.mit.edu 37 6 90422432 90422432 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:90422432C>T uc003pnn.1 - 48 7408 c.7292G>A c.(7291-7293)GGC>GAC p.G2431D NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2431 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) CAGTCCCATGCCAAGAATGGA 0.458 SIM1 6492 broad.mit.edu 37 6 100838323 100838323 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:100838323A>T uc003pqj.3 - 11 2422 c.2215T>A c.(2215-2217)TTT>ATT p.F739I SIM1_uc010kcu.2_Missense_Mutation_p.F739I NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 739 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTTACATCAAAGTGTGAGCCA 0.423 MICAL1 64780 broad.mit.edu 37 6 109770982 109770982 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:109770982T>G uc003ptj.2 - 9 1566 c.1312A>C c.(1312-1314)AGC>CGC p.S438R MICAL1_uc003ptk.2_Missense_Mutation_p.S438R|MICAL1_uc010kdr.2_Missense_Mutation_p.S352R|MICAL1_uc011eaq.1_Missense_Mutation_p.S457R NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 438 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TGGTACAGGCTCTCACTGAGG 0.587 TBPL1 9519 broad.mit.edu 37 6 134305583 134305583 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:134305583C>A uc010kgg.2 + 5 912 c.352C>A c.(352-354)CCA>ACA p.P118T TBPL1_uc003qel.2_Missense_Mutation_p.P118T NM_004865 NP_004856 P62380 TBPL1_HUMAN TBP-like 1 118 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter cytoplasm DNA binding|protein binding|transcription coactivator activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848) AATCCGTTTGCCAGAATTCAC 0.318 PEX7 5191 broad.mit.edu 37 6 137187777 137187777 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:137187777T>C uc003qhd.2 + 6 641 c.539T>C c.(538-540)CTG>CCG p.L180P PEX7_uc010kgx.2_RNA NM_000288 NP_000279 O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 180 WD 3. ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) GATCAGACTCTGAGAATATGG 0.393 VTA1 51534 broad.mit.edu 37 6 142468427 142468427 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:142468427G>A uc003qiw.2 + 1 18 c.3G>A c.(1-3)ATG>ATA p.M1I VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_5'UTR NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Vps20-associated 1 homolog 1 cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding 0 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) GAGTAGAGATGGCCGCGCTTG 0.632 OREG0017699 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SYNE1 23345 broad.mit.edu 37 6 152639292 152639292 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:152639292T>A uc010kiw.2 - 86 17098 c.16496A>T c.(16495-16497)AAG>ATG p.K5499M SYNE1_uc010kiv.2_Missense_Mutation_p.K23M|SYNE1_uc003qos.3_Missense_Mutation_p.K23M|SYNE1_uc003qot.3_Missense_Mutation_p.K5428M|SYNE1_uc003qou.3_Missense_Mutation_p.K5499M|SYNE1_uc010kiz.2_Missense_Mutation_p.K1254M NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5499 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCTATCTTCTTGGCCAGTGG 0.453 HNSCC(10;0.0054) IPCEF1 26034 broad.mit.edu 37 6 154489165 154489165 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:154489165G>A uc003qpx.2 - 11 1147 c.991C>T c.(991-993)CGA>TGA p.R331* OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Nonsense_Mutation_p.R202*|IPCEF1_uc003qpw.2_Nonsense_Mutation_p.R332*|IPCEF1_uc010kjh.2_Nonsense_Mutation_p.R332* NM_015553 NP_056368 Q8WWN9 ICEF1_HUMAN phosphoinositide-binding protein PIP3-E isoform 331 response to oxidative stress cytoplasm|plasma membrane oxygen transporter activity|peroxidase activity 0 GAAGGTCGTCGGTCCCCAAGA 0.368 TFB1M 51106 broad.mit.edu 37 6 155632375 155632375 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:155632375C>T uc003qqj.3 - 2 296 c.232G>A c.(232-234)GTC>ATC p.V78I TFB1M_uc003qqk.2_Intron NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 78 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) AGTTCAGCGACGTCGGCATTA 0.433 TULP4 56995 broad.mit.edu 37 6 158922885 158922885 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:158922885T>C uc003qrf.2 + 13 3547 c.2190T>C c.(2188-2190)GCT>GCC p.A730A TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 730 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) AGACGACAGCTGTAGGGACAG 0.567 EZR 7430 broad.mit.edu 37 6 159204595 159204595 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:159204595C>G uc003qrt.3 - 6 870 c.655G>C c.(655-657)GGA>CGA p.G219R EZR_uc011efs.1_Missense_Mutation_p.G187R|EZR_uc003qru.3_Missense_Mutation_p.G219R NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 219 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) GCATCAACTCCAAGCCAAAGG 0.398 WTAP 9589 broad.mit.edu 37 6 160164762 160164762 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:160164762C>T uc003qsl.2 + 5 433 c.211C>T c.(211-213)CGC>TGC p.R71C WTAP_uc010kjx.2_Missense_Mutation_p.R71C|WTAP_uc003qsk.2_Missense_Mutation_p.R71C|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.R71C NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 71 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) GGAGTCTGCACGCAGGGAAAA 0.353 MAP3K4 4216 broad.mit.edu 37 6 161494549 161494549 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:161494549T>C uc003qtn.2 + 5 2144 c.2002T>C c.(2002-2004)TAC>CAC p.Y668H MAP3K4_uc010kkc.1_Missense_Mutation_p.Y668H|MAP3K4_uc003qto.2_Missense_Mutation_p.Y668H|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.Y121H NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 668 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GATGAAGCAGTACTACCAGTT 0.502 MAP3K4 4216 broad.mit.edu 37 6 161510388 161510388 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:161510388C>T uc003qtn.2 + 11 3000 c.2858C>T c.(2857-2859)GCG>GTG p.A953V MAP3K4_uc010kkc.1_Missense_Mutation_p.A953V|MAP3K4_uc003qto.2_Missense_Mutation_p.A953V|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.A406V|MAP3K4_uc003qtp.2_5'Flank NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 953 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ATGCAGTCTGCGCATCTCACA 0.453 GPER 2852 broad.mit.edu 37 7 1131429 1131429 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:1131429C>T uc010ksd.1 + 2 454 c.65C>T c.(64-66)GCG>GTG p.A22V C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A22V|GPER_uc003ska.1_Missense_Mutation_p.A22V|GPER_uc003skb.2_Missense_Mutation_p.A22V NM_001098201 NP_001091671 Q99527 GPER_HUMAN G protein-coupled receptor 30 22 Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) GCGCAGCCTGCGGCCCCCAAC 0.652 SDK1 221935 broad.mit.edu 37 7 4088996 4088996 + Silent SNP G G A rs146784103 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:4088996G>A uc003smx.2 + 18 2758 c.2619G>A c.(2617-2619)CCG>CCA p.P873P SDK1_uc010kso.2_Silent_p.P149P NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 873 Fibronectin type-III 3. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCGCGCCCCCGCAGAACGTGC 0.567 TNRC18 84629 broad.mit.edu 37 7 5348924 5348924 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:5348924C>T uc003soi.3 - 28 8813 c.8464G>A c.(8464-8466)GGG>AGG p.G2822R NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2822 BAH. DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCACAGTCCCCGATACGGATC 0.637 SP8 221833 broad.mit.edu 37 7 20825340 20825340 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:20825340C>T uc003suy.2 - 3 283 c.42G>A c.(40-42)CCG>CCA p.P14P SP8_uc003suz.2_Silent_p.P32P NM_198956 NP_945194 Q8IXZ3 SP8_HUMAN Sp8 transcription factor isoform 2 14 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 AGGAGGGAGACGGGCTGGGGC 0.597 STK31 56164 broad.mit.edu 37 7 23749937 23749937 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:23749937C>G uc003sws.3 + 1 100 c.33C>G c.(31-33)TCC>TCG p.S11S STK31_uc003swt.3_5'UTR|STK31_uc011jze.1_Silent_p.S11S|STK31_uc010kuq.2_5'Flank NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 11 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 CTAGAGCTTCCGCAACGGAAA 0.557 HOXA10 3206 broad.mit.edu 37 7 27213459 27213459 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:27213459G>C uc011jzm.1 - 1 497 c.467C>G c.(466-468)TCG>TGG p.S156W HOXA10_uc003syw.3_Intron NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 156 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GAAAGAGCACGAGGTGGCCTG 0.512 ELMO1 9844 broad.mit.edu 37 7 37264526 37264526 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:37264526G>A uc003tfk.1 - 9 966 c.659C>T c.(658-660)GCG>GTG p.A220V ELMO1_uc011kbc.1_Missense_Mutation_p.A124V|ELMO1_uc010kxg.1_Missense_Mutation_p.A220V NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 220 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GATCTCCTGCGCCACTTTCTG 0.527 AMPH 273 broad.mit.edu 37 7 38424457 38424457 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:38424457C>A uc003tgu.2 - 21 2119 c.2050G>T c.(2050-2052)GGC>TGC p.G684C AMPH_uc003tgv.2_Missense_Mutation_p.G642C|AMPH_uc003tgt.2_Missense_Mutation_p.G569C NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 684 SH3. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 GGAAAGAGGCCTTTGTAGGTG 0.483 AMPH 273 broad.mit.edu 37 7 38475965 38475965 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:38475965T>A uc003tgu.2 - 12 1110 c.1041A>T c.(1039-1041)AAA>AAT p.K347N AMPH_uc003tgv.2_Missense_Mutation_p.K347N|AMPH_uc003tgt.2_Missense_Mutation_p.K100N NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 347 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 AAGTCTCCTCTTTCTTCACCT 0.433 URGCP 55665 broad.mit.edu 37 7 43918566 43918566 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:43918566C>T uc003tiw.2 - 6 553 c.496G>A c.(496-498)GCC>ACC p.A166T URGCP_uc003tiu.2_Missense_Mutation_p.A123T|URGCP_uc003tiv.2_Missense_Mutation_p.A91T|URGCP_uc003tix.2_Missense_Mutation_p.A157T|URGCP_uc003tiy.2_Missense_Mutation_p.A123T|URGCP_uc003tiz.2_Missense_Mutation_p.A123T|URGCP_uc011kbj.1_Missense_Mutation_p.A123T NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 166 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 TAAATGTCGGCAGCAAGGTCA 0.562 OGDH 4967 broad.mit.edu 37 7 44721400 44721400 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:44721400C>T uc003tln.2 + 10 1397 c.1288C>T c.(1288-1290)CCA>TCA p.P430S OGDH_uc011kbx.1_Missense_Mutation_p.P426S|OGDH_uc011kby.1_Missense_Mutation_p.P280S|OGDH_uc003tlp.2_Missense_Mutation_p.P441S|OGDH_uc011kbz.1_Missense_Mutation_p.P225S|OGDH_uc003tlo.1_Missense_Mutation_p.P263S NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 430 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) CAGCGACCTGCCATCCTACAC 0.537 GRB10 2887 broad.mit.edu 37 7 50742167 50742167 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:50742167G>A uc003tpi.2 - 3 359 c.328C>T c.(328-330)CAG>TAG p.Q110* GRB10_uc003tph.3_Nonsense_Mutation_p.Q52*|GRB10_uc003tpj.2_Nonsense_Mutation_p.Q110*|GRB10_uc003tpk.2_Nonsense_Mutation_p.Q110*|GRB10_uc010kzb.2_Nonsense_Mutation_p.Q52*|GRB10_uc003tpl.2_Nonsense_Mutation_p.Q104*|GRB10_uc003tpm.2_Nonsense_Mutation_p.Q52*|GRB10_uc003tpn.2_Nonsense_Mutation_p.Q52* NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 110 insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) TGGGAGCGCTGCACCCTCTGC 0.657 Russell-Silver_syndrome POM121L12 285877 broad.mit.edu 37 7 53104122 53104122 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:53104122C>A uc003tpz.2 + 1 774 c.758C>A c.(757-759)CCT>CAT p.P253H NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 253 0 GATGCTTGGCCTTCCGTGCTG 0.637 PHKG1 5260 broad.mit.edu 37 7 56149350 56149350 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:56149350C>T uc003trz.1 - 9 1086 c.891G>A c.(889-891)CGG>CGA p.R297R PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Silent_p.R191R|PHKG1_uc011kdb.1_Silent_p.R329R|PHKG1_uc011kdc.1_Silent_p.R288R|PHKG1_uc011kdd.1_Silent_p.R243R NM_006213 NP_006204 Q16816 PHKG1_HUMAN phosphorylase kinase gamma subunit 1 297 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity large_intestine(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GGCTGAAGTGCCGCACTTCCT 0.607 TYW1 55253 broad.mit.edu 37 7 66563632 66563632 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:66563632T>G uc003tvn.2 + 12 1638 c.1489T>G c.(1489-1491)TTT>GTT p.F497V TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Missense_Mutation_p.F111V NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 497 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) GATCAACAGGTTTTTGAAGCT 0.478 WBSCR17 64409 broad.mit.edu 37 7 70886093 70886093 + Splice_Site SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:70886093T>C uc003tvy.2 + 5 962 c.962_splice c.e5+2 p.R321_splice WBSCR17_uc003tvz.2_Splice_Site_p.R20_splice NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCCCATCAGGTCTGTGGCTGG 0.612 RSBN1L 222194 broad.mit.edu 37 7 77407902 77407902 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:77407902G>A uc010ldt.1 + 8 2002 c.1958G>A c.(1957-1959)CGC>CAC p.R653H RSBN1L_uc003ugm.2_Missense_Mutation_p.R435H NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 653 nucleus ovary(1) 1 GAAGGCATTCGCTATGCCAGG 0.348 PCLO 27445 broad.mit.edu 37 7 82579563 82579563 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:82579563C>T uc003uhx.2 - 6 10630 c.10341G>A c.(10339-10341)ACG>ACA p.T3447T PCLO_uc003uhv.2_Silent_p.T3447T|PCLO_uc010lec.2_Silent_p.T412T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3378 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTTCGTCATCCGTTTGTACAC 0.438 PCLO 27445 broad.mit.edu 37 7 82585300 82585300 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:82585300C>G uc003uhx.2 - 5 5258 c.4969G>C c.(4969-4971)GTA>CTA p.V1657L PCLO_uc003uhv.2_Missense_Mutation_p.V1657L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1588 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCAGTAACTACAAGTTCTTCA 0.388 ZNF804B 219578 broad.mit.edu 37 7 88963842 88963842 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:88963842G>A uc011khi.1 + 4 2084 c.1546G>A c.(1546-1548)GTC>ATC p.V516I NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 516 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGAGAGCCAAGTCTCAGGTTT 0.383 HNSCC(36;0.09) FZD1 8321 broad.mit.edu 37 7 90896031 90896031 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:90896031C>T uc003ula.2 + 1 2249 c.1836C>T c.(1834-1836)ATC>ATT p.I612I NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 612 Helical; Name=7; (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) TGACGCTGATCGTGGGCATCA 0.612 AKAP9 10142 broad.mit.edu 37 7 91622286 91622286 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:91622286G>A uc003ulg.2 + 5 718 c.493G>A c.(493-495)GCT>ACT p.A165T AKAP9_uc003uld.3_Missense_Mutation_p.A165T|AKAP9_uc003ule.2_Missense_Mutation_p.A177T|AKAP9_uc003ulf.2_Missense_Mutation_p.A165T NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 177 Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAGTGAGTTGGCTGGGAAGCA 0.423 T BRAF papillary thyroid CALCR 799 broad.mit.edu 37 7 93055791 93055791 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:93055791C>A uc003umv.1 - 15 1665 c.1404G>T c.(1402-1404)GAG>GAT p.E468D CALCR_uc011kia.1_Missense_Mutation_p.E248D|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.E434D|CALCR_uc003umw.2_Missense_Mutation_p.E434D NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 450 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TGTCGCCAGCCTCCGCAGCAG 0.577 TRRAP 8295 broad.mit.edu 37 7 98609072 98609072 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:98609072G>T uc003upp.2 + 71 11418 c.11209G>T c.(11209-11211)GAG>TAG p.E3737* TRRAP_uc011kis.1_Nonsense_Mutation_p.E3708*|TRRAP_uc003upr.2_Nonsense_Mutation_p.E3443*|TRRAP_uc003ups.2_5'Flank NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3737 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAACATTTCTGAGTTTCTGAC 0.552 PTCD1 26024 broad.mit.edu 37 7 99023071 99023071 + Missense_Mutation SNP G G A rs150731740 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:99023071G>A uc003uqh.2 - 6 1215 c.1084C>T c.(1084-1086)CGG>TGG p.R362W PTCD1_uc011kiw.1_Missense_Mutation_p.R411W NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 362 ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CTCCTTGGCCGCTGCCTGCTC 0.647 ZAN 7455 broad.mit.edu 37 7 100395212 100395212 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:100395212G>T uc003uwj.2 + 48 8545 c.8380G>T c.(8380-8382)GAG>TAG p.E2794* ZAN_uc003uwk.2_Nonsense_Mutation_p.E2703*|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Nonsense_Mutation_p.E743* NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2794 VWFC 5.|Cytoplasmic (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GAAAACGCAGGAGGGAGACAG 0.602 EPHB4 2050 broad.mit.edu 37 7 100417826 100417826 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:100417826C>T uc003uwn.1 - 5 1392 c.901G>A c.(901-903)GTC>ATC p.V301I EPHB4_uc003uwm.1_Missense_Mutation_p.V208I|EPHB4_uc010lhj.1_Missense_Mutation_p.V301I|EPHB4_uc011kkf.1_Missense_Mutation_p.V301I|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.V301I NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 301 Extracellular (Potential).|Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) CACTGGCAGACGGCTGATCCA 0.637 TRIP6 7205 broad.mit.edu 37 7 100469250 100469250 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:100469250G>C uc003uww.2 + 7 1255 c.1085G>C c.(1084-1086)TGC>TCC p.C362S NM_003302 NP_003293 Q15654 TRIP6_HUMAN thyroid receptor-interacting protein 6 362 LIM zinc-binding 2. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) CACCCTGGCTGCTTCACCTGC 0.622 MUC17 140453 broad.mit.edu 37 7 100677233 100677233 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:100677233T>C uc003uxp.1 + 3 2589 c.2536T>C c.(2536-2538)TCT>CCT p.S846P MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 846 Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AGTCAGTTCATCTCCTACACC 0.502 CDHR3 222256 broad.mit.edu 37 7 105615467 105615467 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:105615467A>G uc003vdl.3 + 2 332 c.224A>G c.(223-225)AAT>AGT p.N75S CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.N62S|CDHR3_uc011klt.1_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 75 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 TTTAGGGTGAATTGGCTGTCA 0.458 PRKAR2B 5577 broad.mit.edu 37 7 106786831 106786831 + Silent SNP C C T rs146903153 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:106786831C>T uc003vdx.2 + 6 841 c.666C>T c.(664-666)GGC>GGT p.G222G NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 222 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 GGAGTTTCGGCGAACTGGCCT 0.428 FEZF1 389549 broad.mit.edu 37 7 121943889 121943889 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:121943889C>T uc003vkd.2 - 1 677 c.603G>A c.(601-603)AGG>AGA p.R201R FEZF1_uc003vkc.2_Silent_p.R151R|uc010lko.1_RNA|uc003vkf.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 201 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 CCAGTTTATTCCTTTCGGCTA 0.567 GRM8 2918 broad.mit.edu 37 7 126746611 126746611 + Silent SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:126746611A>C uc003vlr.2 - 2 977 c.666T>G c.(664-666)GCT>GCG p.A222A GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.A222A|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 222 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TCCCCTCAGAAGCCAGTGTCG 0.493 HNSCC(24;0.065) LRRC4 64101 broad.mit.edu 37 7 127668913 127668913 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:127668913C>T uc003vmk.2 - 2 1918 c.1781G>A c.(1780-1782)GGG>GAG p.G594E SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 594 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) CACTACTGCCCCCTCACCTGA 0.458 ZC3HAV1 56829 broad.mit.edu 37 7 138732366 138732366 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:138732366C>T uc003vun.2 - 13 3071 c.2683G>A c.(2683-2685)GAA>AAA p.E895K NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 895 PARP catalytic. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 GCTTTGTCTTCAGTATATTCA 0.428 BRAF 673 broad.mit.edu 37 7 140434413 140434413 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:140434413G>A uc003vwc.3 - 18 2346 c.2285C>T c.(2284-2286)GCG>GTG p.A762V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 762 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) GACAGGAAACGCACCATATCC 0.403 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome GIMAP4 55303 broad.mit.edu 37 7 150269275 150269275 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:150269275C>T uc003whl.2 + 3 199 c.117C>T c.(115-117)ACC>ACT p.T39T GIMAP4_uc011kuu.1_5'UTR|GIMAP4_uc011kuv.1_Silent_p.T53T NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 39 GTP (Potential). GTP binding p.T39T(1) ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGGTAAAACCGGAGCAGGAA 0.448 GIMAP6 474344 broad.mit.edu 37 7 150325008 150325008 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:150325008G>A uc003whn.2 - 3 1102 c.678C>T c.(676-678)AAC>AAT p.N226N GIMAP6_uc003whm.2_Silent_p.N146N NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 226 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AATCTCCTTCGTTTTCCCACA 0.517 EFHA2 286097 broad.mit.edu 37 8 16962959 16962959 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:16962959G>C uc003wxd.2 + 11 1165 c.1123G>C c.(1123-1125)GAA>CAA p.E375Q NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 375 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) TCTAGAAATAGAATTCCTTTC 0.294 CSGALNACT1 55790 broad.mit.edu 37 8 19362795 19362795 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:19362795A>C uc011kyn.1 - 4 1615 c.551T>G c.(550-552)ATT>AGT p.I184S CSGALNACT1_uc011kyo.1_Missense_Mutation_p.I184S|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.I183S|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 184 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) GGCTGATTCAATGGCTTCCAC 0.522 LPL 4023 broad.mit.edu 37 8 19809439 19809439 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:19809439C>T uc003wzk.3 + 3 779 c.409C>T c.(409-411)CGG>TGG p.R137W NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 137 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) GGATGTGGCCCGGTTTATCAA 0.522 NEFM 4741 broad.mit.edu 37 8 24774700 24774700 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:24774700C>G uc003xed.3 + 3 1365 c.1332C>G c.(1330-1332)CCC>CCG p.P444P NEFM_uc011lac.1_Silent_p.P444P|NEFM_uc010lue.2_Silent_p.P68P NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 444 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TGGAAGCTCCCAAGCTTAAGG 0.468 TACC1 6867 broad.mit.edu 37 8 38688659 38688659 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:38688659G>A uc010lwp.2 + 6 2056 c.1677G>A c.(1675-1677)ACG>ACA p.T559T TACC1_uc011lby.1_Silent_p.T364T|TACC1_uc003xma.2_Translation_Start_Site|TACC1_uc003xlz.2_Silent_p.T364T|TACC1_uc003xmc.3_Silent_p.T363T|TACC1_uc011lbz.1_Silent_p.T546T|TACC1_uc003xmb.3_Silent_p.T485T|TACC1_uc003xme.1_Silent_p.T133T|TACC1_uc003xmd.1_Silent_p.T121T|TACC1_uc010lwo.1_Silent_p.T92T|TACC1_uc003xmf.3_Silent_p.T149T|TACC1_uc011lca.1_Silent_p.T542T|TACC1_uc011lcb.1_Silent_p.T335T|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Silent_p.T376T|TACC1_uc010lwq.2_Silent_p.T376T NM_006283 NP_006274 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing 559 cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding ovary(1) 1 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) AGAAGGAGACGTGCCAGAAGA 0.478 ADAM2 2515 broad.mit.edu 37 8 39613289 39613289 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:39613289T>A uc003xnj.2 - 16 1830 c.1755A>T c.(1753-1755)CAA>CAT p.Q585H ADAM2_uc003xnk.2_Missense_Mutation_p.Q566H|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Missense_Mutation_p.Q429H NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 585 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCCACATCTTTTGGCTGTCTG 0.338 PRKDC 5591 broad.mit.edu 37 8 48701571 48701571 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:48701571G>T uc003xqi.2 - 77 10855 c.10798C>A c.(10798-10800)CCT>ACT p.P3600T PRKDC_uc003xqj.2_Missense_Mutation_p.P3600T|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3600 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TTATTTACAGGGGTTTTTGCT 0.378 NHEJ CHD7 55636 broad.mit.edu 37 8 61654080 61654080 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:61654080C>T uc003xue.2 + 2 566 c.89C>T c.(88-90)CCG>CTG p.P30L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 30 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGTGGTTACCCGGAAAATCCA 0.438 CYP7B1 9420 broad.mit.edu 37 8 65528708 65528708 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:65528708T>G uc003xvj.2 - 3 594 c.390A>C c.(388-390)AAA>AAC p.K130N NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 130 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TGTCATGATTTTTTTGCAACT 0.328 TRIM55 84675 broad.mit.edu 37 8 67066483 67066483 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:67066483C>T uc003xvv.2 + 9 1664 c.1438C>T c.(1438-1440)CGG>TGG p.R480W TRIM55_uc003xvu.2_Missense_Mutation_p.R480W|TRIM55_uc003xvw.2_Intron|TRIM55_uc003xvx.2_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 480 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TTCGAATGTACGGAAGGCAGA 0.567 C8orf34 116328 broad.mit.edu 37 8 69728125 69728125 + Silent SNP C C T rs145199497 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:69728125C>T uc010lyz.2 + 13 1345 c.1296C>T c.(1294-1296)TCC>TCT p.S432S C8orf34_uc003xyb.2_Silent_p.S407S NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 432 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GTGCAGGTTCCGCTGATCTTC 0.443 ZFHX4 79776 broad.mit.edu 37 8 77765876 77765876 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:77765876T>G uc003yav.2 + 10 6971 c.6584T>G c.(6583-6585)GTT>GGT p.V2195G ZFHX4_uc003yau.1_Missense_Mutation_p.V2240G|ZFHX4_uc003yaw.1_Missense_Mutation_p.V2195G NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2195 Homeobox 2. 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) CAGCTTAGGGTTCTGCAAGAC 0.403 HNSCC(33;0.089) CA13 377677 broad.mit.edu 37 8 86163053 86163053 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:86163053A>G uc003ydg.2 + 2 464 c.122A>G c.(121-123)TAT>TGT p.Y41C CA13_uc003ydf.1_RNA NM_198584 NP_940986 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 41 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 GAAGTGAAATATGACTCTTCC 0.398 TMEM67 91147 broad.mit.edu 37 8 94805495 94805495 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:94805495C>T uc011lgk.1 + 16 1716 c.1645C>T c.(1645-1647)CGC>TGC p.R549C TMEM67_uc010maw.2_Missense_Mutation_p.R255C|TMEM67_uc003yga.3_Missense_Mutation_p.R468C|TMEM67_uc011lgl.1_5'Flank NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 549 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) ATGGAAGAGGCGCATTGGGAG 0.368 PGCP 10404 broad.mit.edu 37 8 98155373 98155373 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:98155373G>A uc003yhw.2 + 8 1547 c.1381G>A c.(1381-1383)GTT>ATT p.V461I NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 461 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) TGTTTCTTATGTTGTTGCAGA 0.453 C8orf47 203111 broad.mit.edu 37 8 99101668 99101668 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:99101668G>C uc003yih.1 + 2 571 c.423G>C c.(421-423)GAG>GAC p.E141D NM_173549 NP_775820 Q6P6B1 CH047_HUMAN hypothetical protein LOC203111 141 0 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) CAGAGGCCGAGTCTCTAAAAG 0.557 VPS13B 157680 broad.mit.edu 37 8 100520118 100520118 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:100520118T>C uc003yiv.2 + 28 4389 c.4278T>C c.(4276-4278)AAT>AAC p.N1426N VPS13B_uc003yiw.2_Intron|VPS13B_uc003yiu.1_3'UTR|VPS13B_uc003yix.1_Silent_p.N896N NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1426 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTTTCAGTAATTGCTCTGGCT 0.438 VPS13B 157680 broad.mit.edu 37 8 100844880 100844880 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:100844880G>T uc003yiv.2 + 52 9800 c.9689G>T c.(9688-9690)AGG>ATG p.R3230M VPS13B_uc003yiw.2_Missense_Mutation_p.R3205M NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3230 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTCTGTACCAGGTATTTTATG 0.458 RGS22 26166 broad.mit.edu 37 8 101075945 101075945 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:101075945C>A uc003yjb.1 - 8 1246 c.1051G>T c.(1051-1053)GTG>TTG p.V351L RGS22_uc003yja.1_Missense_Mutation_p.V170L|RGS22_uc003yjc.1_Missense_Mutation_p.V339L|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 351 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TCAAATGACACTTTTGTTATA 0.328 PKHD1L1 93035 broad.mit.edu 37 8 110456117 110456117 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:110456117C>A uc003yne.2 + 37 4881 c.4777C>A c.(4777-4779)CCA>ACA p.P1593T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1593 Extracellular (Potential).|IPT/TIG 8. 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) TAGTAATCTCCCATGGGCTAA 0.308 HNSCC(38;0.096) PKHD1L1 93035 broad.mit.edu 37 8 110478991 110478991 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:110478991C>T uc003yne.2 + 50 8702 c.8598C>T c.(8596-8598)GAC>GAT p.D2866D NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2866 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) TTCTTTCAGACTCTTTTGGTA 0.368 HNSCC(38;0.096) CSMD3 114788 broad.mit.edu 37 8 113304872 113304872 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:113304872A>G uc003ynu.2 - 55 8841 c.8682T>C c.(8680-8682)AAT>AAC p.N2894N CSMD3_uc003yns.2_Silent_p.N2096N|CSMD3_uc003ynt.2_Silent_p.N2854N|CSMD3_uc011lhx.1_Silent_p.N2725N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2894 Extracellular (Potential).|Sushi 19. 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 TTACCACATCATTAAAGTTGA 0.463 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) ADCY8 114 broad.mit.edu 37 8 132051889 132051889 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:132051889C>T uc003ytd.3 - 1 947 c.691G>A c.(691-693)GTG>ATG p.V231M ADCY8_uc010mds.2_Missense_Mutation_p.V231M NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 231 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTCCTGACCACCACCAGGGCG 0.642 HNSCC(32;0.087) PHF20L1 51105 broad.mit.edu 37 8 133849991 133849991 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:133849991G>T uc003ytt.2 + 17 2451 c.2126G>T c.(2125-2127)TGC>TTC p.C709F PHF20L1_uc011lja.1_Missense_Mutation_p.C683F NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 709 PHD-type. nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CACAGCGTGTGCATGGGGCTG 0.512 TG 7038 broad.mit.edu 37 8 133895150 133895150 + Silent SNP G G A rs146255464 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:133895150G>A uc003ytw.2 + 8 1022 c.981G>A c.(979-981)GCG>GCA p.A327A NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 327 Thyroglobulin type-1 4. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ACTATCAGGCGGTGCAGTGCC 0.597 GPR20 2843 broad.mit.edu 37 8 142367096 142367096 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:142367096C>A uc003ywf.2 - 2 1017 c.928G>T c.(928-930)GGC>TGC p.G310C NM_005293 NP_005284 Q99678 GPR20_HUMAN G protein-coupled receptor 20 310 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity upper_aerodigestive_tract(1) 1 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CCGAAGAGGCCTCGGACGGTG 0.642 SLC1A1 6505 broad.mit.edu 37 9 4576621 4576621 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:4576621G>A uc003zij.1 + 10 1287 c.1051G>A c.(1051-1053)GAC>AAC p.D351N C9orf68_uc003zik.2_Intron NM_004170 NP_004161 P43005 EAA3_HUMAN solute carrier family 1, member 1 351 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) TAACCAGGTGGACAAGAGGAT 0.463 ERMP1 79956 broad.mit.edu 37 9 5787567 5787567 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:5787567G>A uc003zjm.1 - 14 2467 c.2413C>T c.(2413-2415)CGA>TGA p.R805* ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Nonsense_Mutation_p.R419* NM_024896 NP_079172 Q7Z2K6 ERMP1_HUMAN aminopeptidase Fxna 805 Extracellular (Potential). proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity ovary(1) 1 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) TTGTGGGCTCGAACATAGAAG 0.418 SLC24A2 25769 broad.mit.edu 37 9 19785935 19785935 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:19785935C>A uc003zoa.1 - 1 992 c.930G>T c.(928-930)AAG>AAT p.K310N SLC24A2_uc003zob.1_Missense_Mutation_p.K310N NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 310 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CACCACCAACCTTTGCTTGGG 0.393 KIAA1797 54914 broad.mit.edu 37 9 20944775 20944775 + Splice_Site SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:20944775T>C uc003zog.1 + 31 3918 c.3555_splice c.e31+2 p.E1185_splice KIAA1797_uc003zoh.1_Splice_Site_p.E621_splice NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) TTTCAGGAGGTAAGAGATGGA 0.463 IFNA7 3444 broad.mit.edu 37 9 21201782 21201782 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:21201782C>A uc003zop.1 - 1 423 c.383G>T c.(382-384)GGG>GTG p.G128V IFNA14_uc003zoo.1_Intron NM_021057 NP_066401 P01567 IFNA7_HUMAN interferon, alpha 7 precursor 128 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTCTTCCACCCCAACCTCCTG 0.453 UNC13B 10497 broad.mit.edu 37 9 35382496 35382496 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:35382496A>G uc003zwq.2 + 20 2843 c.2551A>G c.(2551-2553)AAC>GAC p.N851D UNC13B_uc003zwr.2_Missense_Mutation_p.N851D NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 851 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TGCAGCCTCCAACTTTGGGGT 0.363 NPR2 4882 broad.mit.edu 37 9 35808513 35808513 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:35808513C>T uc003zyd.2 + 19 2720 c.2720C>T c.(2719-2721)ACG>ATG p.T907M NPR2_uc010mlb.2_Missense_Mutation_p.T883M|SPAG8_uc003zye.2_Intron NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 907 Guanylate cyclase.|Cytoplasmic (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) CAGGTGGAGACGATTGGGGAT 0.478 PCSK5 5125 broad.mit.edu 37 9 78686713 78686713 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:78686713G>A uc004ajz.2 + 7 1331 c.793G>A c.(793-795)GTG>ATG p.V265M PCSK5_uc004ajy.2_Missense_Mutation_p.V265M|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 265 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 CCCCCAGCACGTGCACATTTA 0.542 PRUNE2 158471 broad.mit.edu 37 9 79322985 79322985 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:79322985T>C uc010mpk.2 - 8 4329 c.4205A>G c.(4204-4206)GAG>GGG p.E1402G NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1402 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CTCCTCATACTCTAAAACTTC 0.453 AGTPBP1 23287 broad.mit.edu 37 9 88200433 88200433 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:88200433C>T uc011ltd.1 - 22 3143 c.3110G>A c.(3109-3111)TGG>TAG p.W1037* AGTPBP1_uc004aod.3_Nonsense_Mutation_p.W663*|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.W997*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.W1049* NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 1037 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 ATTGGTATGCCACACTGTCTC 0.328 DAPK1 1612 broad.mit.edu 37 9 90321379 90321379 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:90321379C>T uc004apc.2 + 26 3531 c.3393C>T c.(3391-3393)ATC>ATT p.I1131I DAPK1_uc004apd.2_Silent_p.I1131I|DAPK1_uc011ltg.1_Silent_p.I1065I|DAPK1_uc011lth.1_Silent_p.I868I|DAPK1_uc004apg.2_Silent_p.I108I NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 1131 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 GCGTGCGCATCGTGCCCGTGG 0.612 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of NR4A3 8013 broad.mit.edu 37 9 102590532 102590532 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:102590532G>A uc004baf.1 + 3 937 c.208G>A c.(208-210)GAA>AAA p.E70K NR4A3_uc004bae.2_Missense_Mutation_p.E70K|NR4A3_uc004bag.1_Missense_Mutation_p.E70K|NR4A3_uc004bai.2_Missense_Mutation_p.E81K NM_006981 NP_008912 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 70 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding EWSR1/NR4A3(140)|TAF15/NR4A3(33) bone(173) 173 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GAGCAACTACGAACTCAAGCC 0.517 T EWSR1 extraskeletal myxoid chondrosarcoma EPB41L4B 54566 broad.mit.edu 37 9 111956584 111956584 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:111956584G>A uc004bdz.1 - 21 2434 c.2139C>T c.(2137-2139)TCC>TCT p.S713S NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 713 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 GCAGCGGCACGGAGACTTGTG 0.612 SVEP1 79987 broad.mit.edu 37 9 113221306 113221306 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:113221306T>G uc010mtz.2 - 19 3747 c.3410A>C c.(3409-3411)AAG>ACG p.K1137T SVEP1_uc010mua.1_Missense_Mutation_p.K1137T NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1137 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GCAGAAGGCCTTCCCTGCATT 0.463 TRUB2 26995 broad.mit.edu 37 9 131071975 131071975 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:131071975G>A uc004buq.1 - 8 860 c.850C>T c.(850-852)CGG>TGG p.R284W NM_015679 NP_056494 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase homolog 2 284 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding ovary(1) 1 GTAGCAGCCCGGATAGCATCC 0.637 SLC27A4 10999 broad.mit.edu 37 9 131117771 131117771 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:131117771C>T uc004but.2 + 11 1841 c.1557C>T c.(1555-1557)ACC>ACT p.T519T SLC27A4_uc004buu.2_Silent_p.T113T NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid 519 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding 0 TGTCCACCACCGAGGTGGAAG 0.622 FUBP3 8939 broad.mit.edu 37 9 133506105 133506105 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:133506105G>A uc004bzr.1 + 13 1316 c.1208G>A c.(1207-1209)CGG>CAG p.R403Q FUBP3_uc004bzs.1_Missense_Mutation_p.R316Q NM_003934 NP_003925 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 403 KH 4. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000279) CCCAACCTGCGGAGATTCACC 0.602 GTF3C5 9328 broad.mit.edu 37 9 135929863 135929863 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:135929863G>A uc004cci.3 + 7 1394 c.1057G>A c.(1057-1059)GTC>ATC p.V353I GTF3C5_uc010mzz.2_Missense_Mutation_p.V228I|GTF3C5_uc004ccj.3_Missense_Mutation_p.V353I NM_012087 NP_036219 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5 353 transcription factor TFIIIC complex DNA binding|protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) CCCCATCACCGTCAAGAAGAC 0.612 ADAMTSL2 9719 broad.mit.edu 37 9 136402618 136402618 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:136402618G>A uc011mdl.1 + 3 739 c.182G>A c.(181-183)CGC>CAC p.R61H ADAMTSL2_uc004cei.2_Missense_Mutation_p.R61H NM_001145320 NP_001138792 Q86TH1 ATL2_HUMAN ADAMTS-like 2 precursor 61 TSP type-1 1. negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) GCGTGTTCCCGCAGTTGCGGG 0.672 SARDH 1757 broad.mit.edu 37 9 136573487 136573487 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:136573487G>A uc004cep.3 - 11 1526 c.1392C>T c.(1390-1392)TAC>TAT p.Y464Y SARDH_uc004ceo.2_Silent_p.Y464Y|SARDH_uc011mdn.1_Silent_p.Y464Y|SARDH_uc011mdo.1_Silent_p.Y296Y NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 464 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) AGTTCTTGGCGTAGGACTCAT 0.652 GLT6D1 360203 broad.mit.edu 37 9 138516492 138516492 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:138516492C>T uc010nbd.1 - 5 536 c.282G>A c.(280-282)CCG>CCA p.P94P NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 94 Lumenal (Potential). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups ovary(1) 1 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) AGTGTAGGAACGGCCTCAGGT 0.393 PHPT1 29085 broad.mit.edu 37 9 139743963 139743963 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:139743963C>T uc004cjp.2 + 2 703 c.81C>T c.(79-81)GTC>GTT p.V27V PHPT1_uc011mei.1_Silent_p.V27V|PHPT1_uc004cjq.3_Silent_p.V27V|MAMDC4_uc004cjs.2_5'Flank|MAMDC4_uc011mej.1_5'Flank NM_014172 NP_054891 Q9NRX4 PHP14_HUMAN phosphohistidine phosphatase 1 isoform 3 27 V -> I (in Ref. 4; CAB66579). cytosol phosphohistidine phosphatase activity|phosphoprotein phosphatase activity 0 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TGATCCGAGTCCACTCGGCTC 0.652 CACNA1B 774 broad.mit.edu 37 9 141016353 141016353 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:141016353C>T uc004cog.2 + 46 7067 c.6922C>T c.(6922-6924)CGC>TGC p.R2308C CACNA1B_uc004coi.2_Missense_Mutation_p.R1520C NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 2308 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.R2308H(1) breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCACCCTCTCCGCCGCGTGCC 0.642 GPM6B 2824 broad.mit.edu 37 X 13795513 13795513 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:13795513T>G uc004cvz.2 - 5 900 c.609A>C c.(607-609)AAA>AAC p.K203N GPM6B_uc004cvx.2_Missense_Mutation_p.K184N|GPM6B_uc011min.1_Missense_Mutation_p.K117N|GPM6B_uc004cwa.2_Missense_Mutation_p.K184N|GPM6B_uc004cvw.2_Missense_Mutation_p.K243N|GPM6B_uc011mim.1_Missense_Mutation_p.K217N|GPM6B_uc004cvy.2_Missense_Mutation_p.K243N NM_005278 NP_005269 Q13491 GPM6B_HUMAN glycoprotein M6B isoform 3 203 cell differentiation|nervous system development integral to membrane 0 AGCCACATATTTTTCCGGGGA 0.428 CDKL5 6792 broad.mit.edu 37 X 18598025 18598025 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:18598025A>G uc004cym.2 + 6 593 c.340A>G c.(340-342)AGC>GGC p.S114G CDKL5_uc004cyn.2_Missense_Mutation_p.S114G NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 114 Protein kinase. neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) GAAAGTAAAAAGCTACATCTA 0.343 SHROOM4 57477 broad.mit.edu 37 X 50378091 50378091 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:50378091G>T uc004dpe.2 - 4 1008 c.982C>A c.(982-984)CTC>ATC p.L328I SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.L212I NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 328 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) TGCCCACTGAGGCAACAGAAC 0.552 GSPT2 23708 broad.mit.edu 37 X 51487718 51487718 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:51487718T>C uc004dpl.2 + 1 1222 c.996T>C c.(994-996)CAT>CAC p.H332H NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN peptide chain release factor 3 332 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 Ovarian(276;0.236) CAAGAGAACATGCGATGTTGG 0.418 TSPYL2 64061 broad.mit.edu 37 X 53113997 53113997 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:53113997C>T uc004drw.2 + 3 1078 c.946C>T c.(946-948)CCC>TCC p.P316S TSPYL2_uc004drv.2_Missense_Mutation_p.P360S|TSPYL2_uc004drx.1_5'UTR NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN TSPY-like 2 316 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding 0 CCAGACTAACCCCTACTTCAC 0.522 MAGEE2 139599 broad.mit.edu 37 X 75004886 75004886 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:75004886T>C uc004ecj.1 - 1 186 c.1A>G c.(1-3)ATG>GTG p.M1V NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 1 ovary(1)|skin(1) 2 ACCAGAGACATGGTTCCAGGA 0.582 MAP7D3 79649 broad.mit.edu 37 X 135313820 135313820 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:135313820C>A uc004ezt.2 - 8 1387 c.1296G>T c.(1294-1296)GGG>GGT p.G432G MAP7D3_uc004ezs.2_Silent_p.G396G|MAP7D3_uc011mwc.1_Silent_p.G414G|MAP7D3_uc010nsa.1_Silent_p.G390G NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 432 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) CCTTGGGTGACCCTTTCACAC 0.587 MAGEC1 9947 broad.mit.edu 37 X 140994648 140994648 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:140994648C>A uc004fbt.2 + 4 1744 c.1458C>A c.(1456-1458)TCC>TCA p.S486S MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 486 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GCTCCTCCTCCTCCTCCTCCA 0.478 HNSCC(15;0.026) IDS 3423 broad.mit.edu 37 X 148577905 148577905 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:148577905G>A uc011mxe.1 - 6 1049 c.851C>T c.(850-852)CCG>CTG p.P284L IDS_uc011mxf.1_Missense_Mutation_p.P194L|IDS_uc011mxg.1_Missense_Mutation_p.P73L|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.P73L|IDS_uc011mxh.1_Missense_Mutation_p.P284L|IDS_uc011mxi.1_RNA NM_000202 NP_000193 P22304 IDS_HUMAN iduronate-2-sulfatase isoform a precursor 284 lysosome iduronate-2-sulfatase activity|metal ion binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TGGACCATACGGCACACTGAT 0.522 CD99L2 83692 broad.mit.edu 37 X 149938842 149938842 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:149938842T>A uc004fel.2 - 10 774 c.656A>T c.(655-657)CAG>CTG p.Q219L CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Missense_Mutation_p.Q170L|CD99L2_uc004fen.2_Missense_Mutation_p.Q147L|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Missense_Mutation_p.Q146L NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 219 Cytoplasmic (Potential). cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GTTGAGACCCTCTGCAAAGGG 0.532 PASD1 139135 broad.mit.edu 37 X 150817162 150817162 + Silent SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:150817162T>A uc004fev.3 + 9 1037 c.705T>A c.(703-705)GCT>GCA p.A235A NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 235 Poly-Ala. nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) ctgctgctgctgctATCTCAG 0.343 CNGA2 1260 broad.mit.edu 37 X 150912810 150912810 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:150912810A>G uc004fey.1 + 7 2059 c.1835A>G c.(1834-1836)TAC>TGC p.Y612C NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 612 Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GAAACCTTGTACACTCGCTTT 0.547 HCFC1 3054 broad.mit.edu 37 X 153228859 153228859 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:153228859C>T uc004fjp.2 - 4 1057 c.529G>A c.(529-531)GAA>AAA p.E177K NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 177 Kelch 3. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCCGTAATTCCAGGATATAT 0.547 FLNA 2316 broad.mit.edu 37 X 153588107 153588107 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:153588107G>A uc004fkk.2 - 23 4221 c.3972C>T c.(3970-3972)TAC>TAT p.Y1324Y FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.Y1324Y NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1324 Filamin 11. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACCCTCCTCGTAAGGCGTGT 0.662 USP9Y 8287 broad.mit.edu 37 Y 14848463 14848463 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrY:14848463C>T uc004fst.1 + 10 2089 c.1144C>T c.(1144-1146)CTG>TTG p.L382L USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 382 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 GGAAGAATGGCTGACAGCTGA 0.328 SLC33A1 9197 broad.mit.edu 37 3 155551377 155551390 + Splice_Site DEL ATAGAGAAAGAAAC ATAGAGAAAGAAAC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:155551376_155551389TATAGAGAAAGAAAC>T uc003fan.4 - 4 1611 c.1149_splice c.e4-1 p.R383_splice SLC33A1_uc003fao.2_Splice_Site_p.R383_splice|SLC33A1_uc003fap.1_5'Flank NM_001190992 NP_004724 O00400 ACATN_HUMAN Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA. 383 cell death|transmembrane transport Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGCAATAATCTATAGAGAAAGAAACATTGAGTTG 0.369 EMCN 51705 broad.mit.edu 37 4 101342537 101342537 + Splice_Site DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:101342536_101342536TA>T uc003hvr.3 - 8 748 c.569_splice c.e8-1 p.S190_splice EMCN_uc011cel.2_Splice_Site_p.S177_splice|EMCN_uc011cem.2_Intron NM_016242 NP_057326 Q9ULC0 MUCEN_HUMAN Homo sapiens endomucin (EMCN), transcript variant 1, mRNA. 190 extracellular region|integral to membrane|plasma membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) AAATAATACCTAAAAAGAATT 0.388 SLC17A6 57084 broad.mit.edu 37 11 22381068 22381093 + Splice_Site DEL GTTGAGGTATGTAACTTCAGGGTGAA GTTGAGGTATGTAACTTCAGGGTGAA - rs116500422 by1000genomes TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:22381067_22381092TGTTGAGGTATGTAACTTCAGGGTGAA>T uc001mqk.3 + 4 986 c.573_splice c.e4+1 p.E191_splice NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA. 191 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TGCAGGGACTTGTTGAGGTATGTAACTTCAGGGTGAAGCCTTTTTA 0.372 PLEKHA6 22874 broad.mit.edu 37 1 204226851 204226851 + Frame_Shift_Del DEL G G - rs138411516 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:204226851delG uc001hau.2 - 9 1471 c.1154delC c.(1153-1155)CCGfs p.P385fs PLEKHA6_uc009xaw.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xax.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xay.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xaz.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xba.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xbb.1_Frame_Shift_Del_p.P9fs|PLEKHA6_uc009xbc.1_Frame_Shift_Del_p.P9fs NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 385 Pro-rich. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGCCCAGGGCGGGCTGATCCG 0.662 GIPC1 10755 broad.mit.edu 37 19 14593698 14593698 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:14593698delC uc002myt.2 - 4 361 c.91delG c.(91-93)GAGfs p.E31fs GIPC1_uc002myu.2_Frame_Shift_Del_p.E31fs|GIPC1_uc002myv.2_Intron|GIPC1_uc002myw.2_Intron|GIPC1_uc002myx.2_Frame_Shift_Del_p.E31fs|GIPC1_uc002myy.2_Intron NM_005716 NP_005707 O14908 GIPC1_HUMAN regulator of G-protein signalling 19 interacting 31 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding 0 GGCCCTGGCTCCCCCACGCCC 0.726 PHTF2 57157 broad.mit.edu 37 7 77579112 77579112 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:77579112delA uc003ugs.3 + 16 2203 c.2077delA c.(2077-2079)AAAfs p.K693fs PHTF2_uc003ugq.3_Frame_Shift_Del_p.K655fs|PHTF2_uc010ldv.2_Intron|PHTF2_uc003ugt.3_Frame_Shift_Del_p.K659fs|PHTF2_uc003ugu.3_Frame_Shift_Del_p.K655fs NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 693 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding ovary(1) 1 AGAAACAAGTAAAAAATATAG 0.323 FAAH 2166 broad.mit.edu 37 1 46871370 46871370 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:46871369_46871369TC>T uc001cpu.2 + 4 770 c.688_688TC>T c.(688-690)tccfs p.S230fs FAAH_uc001cpv.2_Non-coding_Transcript NM_001441 NP_001432 O00519 FAAH1_HUMAN Homo sapiens fatty acid amide hydrolase (FAAH), mRNA. 230 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) GTCTGGAGGCTCCCCCCTGGG 0.642 JAK1 3716 broad.mit.edu 37 1 65330630 65330630 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:65330629_65330629AT>A uc001dbu.1 - 7 1266 c.1017_1017AT>T c.(1015-1017)aatfs p.N339fs JAK1_uc009wam.1_Frame_Shift_Del_p.N339fs NM_002227 NP_002218 P23458 JAK1_HUMAN Homo sapiens Janus kinase 1 (JAK1), mRNA. 339 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GCTTCAGTTTATTTTTTTCCT 0.358 Mis ALL LRRC8C 84230 broad.mit.edu 37 1 90180340 90180340 + Frame_Shift_Del DEL A A - rs76509396 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:90180339_90180339GA>G uc001dnl.4 + 2 2452 c.2210_2210GA>G c.(2209-2211)ggafs p.G737fs NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA. 737 endoplasmic reticulum membrane|integral to membrane p.G737G(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CTGAAGATTGGAAAAAACAGC 0.348 ADAM30 11085 broad.mit.edu 37 1 120438116 120438116 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:120438115_120438115CT>C uc001eij.3 - 0 1033 c.845_845AG>G c.(844-846)agtfs p.S282fs NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 282 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) ATTTAATACACTTTTTTTATA 0.343 PPOX 5498 broad.mit.edu 37 1 161137804 161137804 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:161137803_161137803AC>A uc001fyj.2 + 4 647 c.357_357AC>A c.(355-357)tcafs p.S119fs PPOX_uc001fyg.2_Frame_Shift_Del_p.S119fs|PPOX_uc010pkg.1_Intron|PPOX_uc001fyi.2_Intron|PPOX_uc010pkh.1_Intron NM_001122764 NP_001116236 P50336 PPOX_HUMAN Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 119 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TCCGCCCTTCACCCCCCTTCT 0.602 C1orf192 257177 broad.mit.edu 37 1 161335437 161335437 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:161335436_161335436AG>A uc001gal.3 - 3 234 c.228_228CT>T c.(226-228)cctfs p.P76fs NM_001013625 NP_001013647 Q5VTH2 CA192_HUMAN Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA. 76 endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCACCCGAGCAGGGGGTATCT 0.522 SCYL3 57147 broad.mit.edu 37 1 169823472 169823472 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:169823471_169823471CT>C uc001ggs.2 - 12 2307 c.2109_2109AG>G c.(2107-2109)aagfs p.K703fs SCYL3_uc010plw.1_Frame_Shift_Del_p.K295fs|SCYL3_uc001ggt.2_Frame_Shift_Del_p.K649fs NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA. 703 Interaction with EZR. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGACATCATCCTTTTTTGGGA 0.403 PRG4 10216 broad.mit.edu 37 1 186277936 186277937 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:186277935_186277936C>CA uc001gru.4 + 6 3135_3136 c.3084_3085C>CA c.(3082-3087)cccaaafs p.P1028fs MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Frame_Shift_Ins_p.P987fs|PRG4_uc009wyl.3_Frame_Shift_Ins_p.P935fs|PRG4_uc009wym.3_Frame_Shift_Ins_p.P894fs|PRG4_uc010poo.2_Non-coding_Transcript NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 1028 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCAAAGCACCCAAAAAACCCAC 0.411 TROVE2 6738 broad.mit.edu 37 1 193045113 193045115 + In_Frame_Del DEL AGA AGA - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:193045112_193045114TAGA>T uc001gss.3 + 2 1119_1121 c.743_745TAGA>T c.(742-747)atagaa>aTaa p.E250del TROVE2_uc001gsu.2_5'UTR|TROVE2_uc001gsv.2_In_Frame_Del_p.E250del|TROVE2_uc009wyp.3_In_Frame_Del_p.E250del|TROVE2_uc001gsw.3_In_Frame_Del_p.E250del|TROVE2_uc009wyq.3_In_Frame_Del_p.E250del|TROVE2_uc001gsx.2_In_Frame_Del_p.E250del NM_001173524 NP_004591 P10155 RO60_HUMAN Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA. 250 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex RNA binding|protein binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 ATTCATCTAATAGAAGAACATAG 0.335 CENPF 1063 broad.mit.edu 37 1 214791999 214792000 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr1:214791998_214791999A>AT uc001hkm.3 + 3 616_617 c.442_443A>AT c.(442-444)attfs p.I148fs NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 148 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.K147T(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ACCACAAAAAATTTTTACAACT 0.376 CLIP4 79745 broad.mit.edu 37 2 29379233 29379233 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:29379232_29379232CA>C uc002rmv.3 + 9 1417 c.1178_1178CA>C c.(1177-1179)tcafs p.S393fs CLIP4_uc002rmu.3_Frame_Shift_Del_p.S393fs|CLIP4_uc010ezm.1_Frame_Shift_Del_p.S393fs|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Frame_Shift_Del_p.S375fs NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA. 393 p.T392A(1) endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) TTAATGACATCAAAAAAAGAT 0.313 BCL11A 53335 broad.mit.edu 37 2 60689254 60689254 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:60689253_60689253AG>A uc002sae.1 - 3 1022 c.794_794CT>T c.(793-795)ctgfs p.L265fs BCL11A_uc002sab.3_Frame_Shift_Del_p.L265fs|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Frame_Shift_Del_p.L231fs|BCL11A_uc002sad.1_Frame_Shift_Del_p.L113fs|BCL11A_uc002saf.1_Frame_Shift_Del_p.L231fs NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 265 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGGACTAAACAGGGGGGGAGT 0.587 T IGH@ B-CLL B3GNT2 10678 broad.mit.edu 37 2 62449456 62449457 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:62449455_62449456G>GA uc021vii.1 + 0 100_101 c.100_101G>GA c.(100-102)gaafs p.E34fs B3GNT2_uc002sbs.3_Frame_Shift_Ins_p.E34fs NM_006577 NP_006568 Q9NY97 B3GN2_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA. 34 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) CAGTAGCCAAGAAAAAAATGGA 0.406 ACVR2A 92 broad.mit.edu 37 2 148683728 148683729 + Frame_Shift_Ins INS - - G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:148683727_148683728T>TG uc002twg.3 + 10 1613_1614 c.1344_1345T>TG c.(1342-1347)catgctfs p.H448fs ACVR2A_uc010zbn.2_Frame_Shift_Ins_p.H340fs|ACVR2A_uc002twh.3_Frame_Shift_Ins_p.H448fs NM_001616 NP_001607 P27037 AVR2A_HUMAN Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA. 448 Protein kinase. BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) GGCAGAAACATGCTGTAAGTTA 0.351 PLA2R1 22925 broad.mit.edu 37 2 160873181 160873182 + Frame_Shift_Ins INS - - A rs140427239 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:160873180_160873181T>TA uc002ube.2 - 8 1707_1708 c.1495_1496A>TA c.(1495-1497)tacfs p.Y499fs PLA2R1_uc010zcp.2_Frame_Shift_Ins_p.Y499fs|PLA2R1_uc002ubf.3_Frame_Shift_Ins_p.Y499fs NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 499 C-type lectin 2. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TTTACAAATGTAAAAAAGTCTT 0.401 PSMD14 10213 broad.mit.edu 37 2 162227710 162227710 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:162227709_162227709AC>A uc002ubu.2 + 6 805 c.338_338AC>A c.(337-339)cacfs p.H113fs NM_005805 NP_005796 O00487 PSDE_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 (PSMD14), mRNA. 113 MPN. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction proteasome complex endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 12 GGTTGGTATCACAGTCACCCT 0.453 TTN 7273 broad.mit.edu 37 2 179641449 179641459 + Frame_Shift_Del DEL AAGTCTTAAGG AAGTCTTAAGG - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:179641448_179641458TAAGTCTTAAGG>T uc021vsy.1 - 27 5358_5368 c.5133_5143CCTTAAGACTTA>A c.(5131-5145)tccttaagacttaagfs p.S1711fs TTN_uc021vsz.1_Frame_Shift_Del_p.S1665fs|TTN_uc021vta.1_Frame_Shift_Del_p.S1665fs|TTN_uc021vtb.1_Frame_Shift_Del_p.S1665fs|TTN_uc002unb.2_Frame_Shift_Del_p.S1711fs|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1711 Ig-like 8. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAAAGCGCTTAAGTCTTAAGGAAGTGAGTT 0.474 CASP8 841 broad.mit.edu 37 2 202137437 202137438 + Frame_Shift_Del DEL TC TC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr2:202137436_202137437GTC>G uc002uxr.1 + 4 696_697 c.487_488GTC>G c.(487-489)gtcfs p.V163fs CASP8_uc010ftc.1_Frame_Shift_Del_p.V163fs|CASP8_uc002uxo.1_Frame_Shift_Del_p.V163fs|CASP8_uc002uxq.1_Frame_Shift_Del_p.V163fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.V195fs|CASP8_uc002uxs.1_Frame_Shift_Del_p.V163fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.V222fs|CASP8_uc010ftd.1_Frame_Shift_Del_p.V60fs|CASP8_uc002uxv.1_Frame_Shift_Del_p.V163fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.V163fs|CASP8_uc021vuy.1_3'UTR|CASP8_uc021vuz.1_Frame_Shift_Del_p.V163fs|CASP8_uc021vva.1_Frame_Shift_Del_p.V163fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.V163fs|CASP8_uc010fte.1_Frame_Shift_Del_p.V60fs NM_033355 NP_203519 Q14790 CASP8_HUMAN Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA. 163 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CCTGAAAAGAGTCTGTGCCCAA 0.441 HNSCC(4;0.00038) NR2C2 7182 broad.mit.edu 37 3 15062406 15062407 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:15062405_15062406G>GA uc003bzj.4 + 4 739_740 c.522_523G>GA c.(520-525)ctgaaafs p.L174fs NR2C2_uc003bzi.3_Frame_Shift_Ins_p.L193fs NM_003298 NP_003289 P49116 NR2C2_HUMAN Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA. 174 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding p.K194E(1) breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTTGCCGGCTGAAAAAATGCTT 0.406 WDR82 80335 broad.mit.edu 37 3 52292655 52292656 + Frame_Shift_Del DEL CT CT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:52292654_52292655GCT>G uc003ddl.2 - 7 1091_1092 c.809_810AGC>C c.(808-810)agcfs p.S270fs WDR82_uc003ddk.2_Frame_Shift_Del_p.S195fs NM_025222 NP_079498 Q6UXN9 WDR82_HUMAN Homo sapiens WD repeat domain 82 (WDR82), mRNA. 270 histone H3-K4 methylation PTW/PP1 phosphatase complex|Set1C/COMPASS complex|chromatin protein binding BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) CTTTTATACCGCTCTCTCCATT 0.446 FLNB 2317 broad.mit.edu 37 3 58089788 58089788 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:58089787_58089787TG>T uc003djj.2 + 9 1750 c.1585_1585TG>T c.(1585-1587)tggfs p.W529fs FLNB_uc010hne.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Del_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Del_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Del_p.W360fs NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 529 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TGCCATCACATGGGGGGGACA 0.592 CNTN3 5067 broad.mit.edu 37 3 74548856 74548856 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:74548855_74548855AT>A uc003dpm.1 - 1 217 c.137_137AT>T c.(136-138)atafs p.I46fs NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 46 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ATGCAAAGTTATTTTTTTATC 0.368 SLC33A1 9197 broad.mit.edu 37 3 155551377 155551390 + Splice_Site DEL ATAGAGAAAGAAAC ATAGAGAAAGAAAC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:155551376_155551389TATAGAGAAAGAAAC>T uc003fan.4 - 4 1611 c.1149_splice c.e4-1 p.R383_splice SLC33A1_uc003fao.2_Splice_Site_p.R383_splice|SLC33A1_uc003fap.1_5'Flank NM_001190992 NP_004724 O00400 ACATN_HUMAN Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA. 383 cell death|transmembrane transport Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGCAATAATCTATAGAGAAAGAAACATTGAGTTG 0.369 TTC14 151613 broad.mit.edu 37 3 180328073 180328074 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:180328072_180328073C>CA uc003fkk.3 + 11 2187_2188 c.2055_2056C>CA c.(2053-2058)tacaaafs p.Y685fs TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA. 685 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTGAGAAATACAAAAAATACGC 0.406 CPN2 1370 broad.mit.edu 37 3 194062035 194062035 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr3:194062034_194062034GC>G uc003fts.3 - 1 1488 c.1398_1398GC>C c.(1396-1398)ggcfs p.G466fs CPN2_uc021xix.1_Frame_Shift_Del_p.G466fs NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 466 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GATCCCAGCTGCCCCCTGCCT 0.662 FAM193A 8603 broad.mit.edu 37 4 2661593 2661593 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:2661592_2661592AC>A uc010ick.3 + 8 1284 c.1283_1283AC>A c.(1282-1284)gacfs p.D428fs FAM193A_uc003gfd.3_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.D82fs NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 228 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGTATCATGGACCCCCCCGTC 0.522 MFSD10 10227 broad.mit.edu 37 4 2934406 2934407 + Frame_Shift_Ins INS - - C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:2934405_2934406G>GC uc003gfw.3 - 3 766_767 c.452_453C>GC c.(451-453)ggcfs p.G151fs MFSD10_uc021xks.1_Frame_Shift_Ins_p.G75fs|MFSD10_uc003gfz.3_Frame_Shift_Ins_p.G151fs|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank NM_001120 NP_001139541 Q14728 MFS10_HUMAN Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA. 151 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTTTGCTGATGCCCCCAATCAG 0.644 ZCCHC4 29063 broad.mit.edu 37 4 25353254 25353254 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:25353253_25353253AT>A uc003grl.4 + 7 989 c.953_953AT>A c.(952-954)tatfs p.Y318fs NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA. 318 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) ATTTTCCCCTATTTTTTTGAA 0.353 FRYL 285527 broad.mit.edu 37 4 48604083 48604084 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:48604082_48604083T>TA uc003gyh.1 - 12 1594_1595 c.989_990A>TA c.(988-990)ttafs p.L330fs FRYL_uc003gyk.3_Frame_Shift_Ins_p.L330fs NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.L330fs*3(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GCCAGTTATTTAAAAAAAATTG 0.307 POLR2B 5431 broad.mit.edu 37 4 57888355 57888355 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:57888354_57888354TA>T uc003hcl.1 + 17 2500 c.2457_2457TA>T c.(2455-2457)tctfs p.S819fs POLR2B_uc011cae.1_Frame_Shift_Del_p.S812fs|POLR2B_uc011caf.1_Frame_Shift_Del_p.S744fs|POLR2B_uc003hcm.1_Frame_Shift_Del_p.S312fs NM_000938 NP_000929 P30876 RPB2_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA. 819 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) AACAGGAGTCTAAAAAAGGAT 0.353 EMCN 51705 broad.mit.edu 37 4 101342537 101342537 + Splice_Site DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:101342536_101342536TA>T uc003hvr.3 - 8 748 c.569_splice c.e8-1 p.S190_splice EMCN_uc011cel.2_Splice_Site_p.S177_splice|EMCN_uc011cem.2_Intron NM_016242 NP_057326 Q9ULC0 MUCEN_HUMAN Homo sapiens endomucin (EMCN), transcript variant 1, mRNA. 190 extracellular region|integral to membrane|plasma membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) AAATAATACCTAAAAAGAATT 0.388 TDO2 6999 broad.mit.edu 37 4 156830081 156830090 + Frame_Shift_Del DEL CACCGAGTGT CACCGAGTGT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr4:156830080_156830089GCACCGAGTGT>G uc003ipf.1 + 4 409_418 c.345_354GCACCGAGTGT>G c.(343-354)atgcaccgagtgfs p.M115fs NM_005651 NP_005642 P48775 T23O_HUMAN Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA. 115 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TTTCTCGGATGCACCGAGTGTCAGTGATCC 0.424 NIPBL 25836 broad.mit.edu 37 5 37064899 37064899 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:37064898_37064898CA>C uc003jkl.4 + 46 8818 c.8319_8319CA>C c.(8317-8319)tacfs p.Y2773fs NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 2773 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACATTATTTACAAAAAAATTG 0.463 LYSMD3 116068 broad.mit.edu 37 5 89815016 89815017 + Frame_Shift_Ins INS - - TC TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:89815015_89815016T>TTC uc003kjr.3 - 2 689_690 c.541_542A>GAA c.(541-543)aacfs p.N181fs LYSMD3_uc010jaz.2_Intron|LYSMD3_uc003kjs.1_3'UTR NM_198273 NP_938014 Q7Z3D4 LYSM3_HUMAN Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA. 181 cell wall macromolecule catabolic process integral to membrane breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 7 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) CTCATTGAGGTTCTCTCTCTTA 0.391 ARRDC3 57561 broad.mit.edu 37 5 90678675 90678677 + In_Frame_Del DEL CTT CTT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:90678674_90678676ACTT>A uc003kjz.2 - 0 474_476 c.234_236AAGT>T c.(232-237)gaagta>gaTa p.78_79EV>D LOC100129716_uc003kka.4_Intron NM_020801 NP_065852 Q96B67 ARRD3_HUMAN Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA. 78 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GAAATACTCTACTTCTTCAGTGT 0.374 ERAP1 51752 broad.mit.edu 37 5 96126243 96126244 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:96126242_96126243G>GT uc003kmm.3 - 8 1771_1772 c.1424_1425C>AC c.(1423-1425)aacfs p.N475fs ERAP1_uc003kml.3_Frame_Shift_Ins_p.N475fs|ERAP1_uc010jbm.2_Frame_Shift_Ins_p.N287fs|ERAP1_uc003kmn.3_Frame_Shift_Ins_p.N475fs NM_001040458 NP_001185470 Q9NZ08 ERAP1_HUMAN Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA. 475 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) ACAGGTCCTCGTTTTTTGTATT 0.371 PCDHAC2 56134 broad.mit.edu 37 5 140187191 140187215 + Frame_Shift_Del DEL TGTCCATCGCGGAATCCAGGCCGCT TGTCCATCGCGGAATCCAGGCCGCT - rs113425597 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:140187190_140187214CTGTCCATCGCGGAATCCAGGCCGCT>C uc003lhi.2 + 0 519_543 c.418_442CTGTCCATCGCGGAATCCAGGCCGCT>C c.(418-444)ctgtccatcgcggaatccaggccgcttfs p.L140fs PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Frame_Shift_Del_p.L140fs|PCDHAC2_uc011daa.2_Frame_Shift_Del_p.L140fs NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 155 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.I142I(2)|p.A143E(2)|p.P146L(1)|p.R147C(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAAAGAACCTGTCCATCGCGGAATCCAGGCCGCTTGACTCTCG 0.551 SH3TC2 79628 broad.mit.edu 37 5 148406600 148406605 + In_Frame_Del DEL GATAGT GATAGT - rs73795753 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:148406599_148406604AGATAGT>A uc003lpu.3 - 10 2843_2848 c.2691_2696ACTATCT>T c.(2689-2697)aactatctc>aaTc p.YL898del SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_In_Frame_Del_p.YL542del|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_In_Frame_Del_p.YL445del|SH3TC2_uc010jgx.3_In_Frame_Del_p.YL891del|SH3TC2_uc003lpv.1_In_Frame_Del_p.YL445del|SH3TC2_uc011dbz.1_In_Frame_Del_p.YL783del NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 898 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCTGCAGGAGATAGTTTCTGGCTG 0.524 FAF2 23197 broad.mit.edu 37 5 175933891 175933910 + Frame_Shift_Del DEL ACAGGAGGCCGGACTCAGCC ACAGGAGGCCGGACTCAGCC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr5:175933890_175933909TACAGGAGGCCGGACTCAGCC>T uc003mej.4 + 10 1330_1349 c.1277_1296TACAGGAGGCCGGACTCAGCC>T c.(1276-1296)ctacaggaggccggactcagcfs p.L426fs NM_014613 NP_055428 Q96CS3 FAF2_HUMAN Homo sapiens Fas associated factor family member 2 (FAF2), mRNA. 426 UBX. response to unfolded protein endoplasmic reticulum|lipid particle protein binding p.G430A(2) breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 CCCCCTACGCTACAGGAGGCCGGACTCAGCCACACAGAAG 0.495 PHACTR1 221692 broad.mit.edu 37 6 13206135 13206135 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:13206134_13206134TG>T uc003nah.2 + 7 1125 c.752_752TG>T c.(751-753)gtgfs p.V251fs PHACTR1_uc011dir.2_Frame_Shift_Del_p.V320fs|PHACTR1_uc010jpc.3_Frame_Shift_Del_p.V251fs|PHACTR1_uc003nag.2_Frame_Shift_Del_p.V251fs NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA. 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCA 0.597 FAM8A1 51439 broad.mit.edu 37 6 17608496 17608497 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:17608495_17608496G>GT uc003ncc.3 + 4 1290_1291 c.1167_1168G>GT c.(1165-1170)ctgtttfs p.L389fs NM_016255 NP_057339 Q9UBU6 FA8A1_HUMAN Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA. 389 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) TCACACTGCTGTTTTTTCAGCA 0.381 FKBPL 63943 broad.mit.edu 37 6 32096678 32096678 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:32096677_32096677AC>A uc003nzr.3 - 1 1151 c.881_881GT>T c.(880-882)gttfs p.V294fs ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Frame_Shift_Del_p.V294fs NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN Homo sapiens FK506 binding protein like (FKBPL), mRNA. 294 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity AGCCTGGGCAACCCCCCTTCG 0.592 FILIP1 27145 broad.mit.edu 37 6 76063371 76063376 + In_Frame_Del DEL CAGCAA CAGCAA - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:76063370_76063375CCAGCAA>C uc010kbe.3 - 4 1048_1053 c.518_523TTGCTGG>G c.(517-525)ttgctggcc>tGcc p.173_175LLA>C FILIP1_uc003phy.1_In_Frame_Del_p.170_172LLA>C|FILIP1_uc003phz.3_In_Frame_Del_p.71_73LLA>C|FILIP1_uc003pia.3_In_Frame_Del_p.170_172LLA>C NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 170 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CACTTCTCGGCCAGCAACAGCTGCTC 0.466 IGF2R 3482 broad.mit.edu 37 6 160485488 160485489 + Frame_Shift_Ins INS - - G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr6:160485487_160485488C>CG uc003qta.3 + 27 4089_4090 c.3941_3942C>CG c.(3940-3942)acgfs p.T1314fs NM_000876 NP_000867 P11717 MPRI_HUMAN Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA. 1314 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ATGAACTTCACGGGGGGGGACA 0.505 DNAH11 8701 broad.mit.edu 37 7 21609806 21609806 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:21609805_21609805GA>G uc003svc.3 + 6 1344 c.1313_1313GA>G c.(1312-1314)agafs p.R438fs NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 438 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R438T(2) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTCAACTATAGAAAAAAATTG 0.393 Kartagener syndrome ANLN 54443 broad.mit.edu 37 7 36455394 36455394 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:36455393_36455393CA>C uc003tff.3 + 7 1626 c.1422_1422CA>C c.(1420-1422)ctcfs p.L474fs ANLN_uc011kaz.2_Frame_Shift_Del_p.L386fs|ANLN_uc003tfg.3_Frame_Shift_Del_p.L474fs|ANLN_uc010kxe.3_Frame_Shift_Del_p.L474fs NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN Homo sapiens anillin, actin binding protein (ANLN), mRNA. 474 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 GCACTCCCCTCAAAAAACACC 0.338 OGDH 4967 broad.mit.edu 37 7 44747228 44747229 + Frame_Shift_Ins INS - - C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:44747227_44747228A>AC uc003tln.3 + 21 3002_3003 c.2843_2844A>AC c.(2842-2844)tacfs p.Y948fs OGDH_uc011kbx.2_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.2_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.3_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.2_Frame_Shift_Ins_p.Y743fs NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 948 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GTGCAGAAGTACCCCAATGCTG 0.564 TBL2 26608 broad.mit.edu 37 7 72985158 72985158 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:72985157_72985157TG>T uc003tyh.3 - 6 1158 c.1024_1024CA>A c.(1024-1026)aacfs p.N342fs TBL2_uc011kex.2_Frame_Shift_Del_p.N306fs|TBL2_uc010lbg.3_Frame_Shift_Del_p.N247fs|TBL2_uc003tyi.3_Frame_Shift_Del_p.N177fs|TBL2_uc011key.2_Frame_Shift_Del_p.N213fs NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN Homo sapiens transducin (beta)-like 2 (TBL2), mRNA. 342 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) ACCTGGGCGTTGGGGGAGAGG 0.617 SLC25A13 10165 broad.mit.edu 37 7 95814300 95814309 + Frame_Shift_Del DEL TCGAGCTGAA TCGAGCTGAA - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:95814299_95814308GTCGAGCTGAA>G uc003uog.4 - 9 1143_1152 c.952_961TTCAGCTCGAC>C c.(952-963)tcagctcgaccafs p.S318fs SLC25A13_uc003uof.4_Frame_Shift_Del_p.S317fs|SLC25A13_uc011kik.2_Frame_Shift_Del_p.S209fs NM_001160210 NP_001153682 Q9UJS0 CMC2_HUMAN Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 317 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) AGAAGAACTGGTCGAGCTGAATCACCTGAG 0.414 TECPR1 25851 broad.mit.edu 37 7 97862264 97862265 + Frame_Shift_Del DEL TG TG - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:97862263_97862264ATG>A uc003upg.3 - 11 1898_1899 c.1693_1694CAT>T c.(1693-1695)atgfs p.M565fs TECPR1_uc003uph.1_Frame_Shift_Del_p.M495fs NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA. 565 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGGGACAGCATGTGTACCGAG 0.663 COG5 10466 broad.mit.edu 37 7 106924081 106924081 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:106924080_106924080GA>G uc003vec.2 - 12 2029 c.1504_1504TC>C c.(1504-1506)cccfs p.P502fs COG5_uc003ved.2_Frame_Shift_Del_p.P502fs|COG5_uc003vee.2_Frame_Shift_Del_p.P502fs NM_006348 NP_006339 Q9UP83 COG5_HUMAN Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA. 502 intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CCACCCGGGGGAAAAACCAAG 0.398 TAS2R16 50833 broad.mit.edu 37 7 122635598 122635616 + Frame_Shift_Del DEL CTGCAACAATTAGGCTGCT CTGCAACAATTAGGCTGCT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:122635597_122635615ACTGCAACAATTAGGCTGCT>A uc003vkl.1 - 0 140_158 c.74_92AGCAGCCTAATTGTTGCAGT>T c.(73-93)agcagcctaattgttgcagtgfs p.S25fs NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA. 25 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TCTGCCCAGCACTGCAACAATTAGGCTGCTCTGCACAAT 0.475 ABP1 26 broad.mit.edu 37 7 150554028 150554035 + Frame_Shift_Del DEL AAGCCACC AAGCCACC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr7:150554027_150554034GAAGCCACC>G uc003why.1 + 2 4687_4694 c.469_476GAAGCCACC>G c.(469-477)gaagccaccfs p.E157fs ABP1_uc003whz.1_Frame_Shift_Del_p.E157fs|ABP1_uc003wia.1_Frame_Shift_Del_p.E157fs NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 157 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CACCCTGCAGGAAGCCACCAAGCCCCTG 0.606 MYOM2 9172 broad.mit.edu 37 8 2092844 2092844 + Frame_Shift_Del DEL C C - rs151252256 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:2092843_2092843GC>G uc003wpx.4 + 36 4474 c.4336_4336GC>G c.(4336-4338)gccfs p.A1446fs MYOM2_uc011kwi.2_Frame_Shift_Del_p.A871fs NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1446 muscle contraction myosin filament structural constituent of muscle p.A1446V(1) autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 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) CCCGGACATGGCCCCGCCCCA 0.572 POP1 10940 broad.mit.edu 37 8 99168468 99168468 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:99168467_99168467TA>T uc003yij.4 + 14 2347 c.2247_2247TA>T c.(2245-2247)cctfs p.P749fs POP1_uc011lgv.2_Frame_Shift_Del_p.P749fs|POP1_uc003yik.3_Frame_Shift_Del_p.P749fs NM_001145860 NP_055844 Q99575 POP1_HUMAN Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA. 749 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CTCCCATGCCTAAAAAAACTC 0.507 VPS13B 157680 broad.mit.edu 37 8 100847793 100847794 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:100847792_100847793C>CA uc003yiv.3 + 53 9954_9955 c.9843_9844C>CA c.(9841-9846)tgcaaafs p.C3281fs VPS13B_uc003yiw.3_Frame_Shift_Ins_p.C3256fs NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 3281 protein transport p.K3282T(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGGTTTATTGCAAAAAAATTCC 0.386 ATAD2 29028 broad.mit.edu 37 8 124371527 124371532 + In_Frame_Del DEL TTTAGA TTTAGA - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:124371526_124371531TTTTAGA>T uc003yqh.4 - 10 1420_1425 c.1312_1317TCTAAAA>A c.(1312-1317)ctaaaa>A p.LK438del ATAD2_uc011lii.2_In_Frame_Del_p.LK229del|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_In_Frame_Del_p.LK438del NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA. 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CCACCATCTCTTTTAGAGCTGCTATA 0.320 ATAD2 29028 broad.mit.edu 37 8 124371882 124371882 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr8:124371881_124371881TA>T uc003yqh.4 - 9 1310 c.1202_1202TA>A c.(1201-1203)tatfs p.Y401fs ATAD2_uc011lii.2_Frame_Shift_Del_p.Y192fs|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Del_p.Y401fs NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA. 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TCGATCTTTATAAATGCCTTT 0.363 SMC5 23137 broad.mit.edu 37 9 72961550 72961552 + In_Frame_Del DEL CTC CTC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr9:72961549_72961551ACTC>A uc004ahr.2 + 18 2669_2671 c.2552_2554ACTC>A c.(2551-2556)aactcc>aAcc p.S853del SMC5_uc011lry.1_5'UTR NM_015110 NP_055925 Q8IY18 SMC5_HUMAN Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA. 853 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 AATGGACACAACTCCTCACTCCC 0.463 SFMBT2 57713 broad.mit.edu 37 10 7214605 7214605 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:7214604_7214604TC>T uc009xio.2 - 17 2095 c.2004_2004GA>A c.(2002-2004)agafs p.R668fs SFMBT2_uc001ijn.2_Frame_Shift_Del_p.R668fs|SFMBT2_uc010qay.2_Frame_Shift_Del_p.R503fs NM_001018039 NP_001018049 Q5VUG0 SMBT2_HUMAN Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA. 668 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 AGATCTTCTTTCTCTTTCCAT 0.507 MASTL 84930 broad.mit.edu 37 10 27459272 27459272 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:27459271_27459271TA>T uc001itm.3 + 7 1986 c.1383_1383TA>T c.(1381-1383)aatfs p.N461fs MASTL_uc001itl.3_Frame_Shift_Del_p.N461fs|MASTL_uc009xkw.2_Frame_Shift_Del_p.N461fs|MASTL_uc009xkx.2_Non-coding_Transcript NM_001172303 NP_001165774 Q96GX5 GWL_HUMAN Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA. 461 Protein kinase. G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTATACAGAATAAAAAAACTT 0.333 KCNMA1 3778 broad.mit.edu 37 10 78771741 78771741 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:78771740_78771740AT>A uc001jxn.3 - 17 2254 c.2077_2077AT>T c.(2077-2079)tgtfs p.C693fs KCNMA1_uc021ptu.1_Frame_Shift_Del_p.C643fs|KCNMA1_uc001jxj.2_Frame_Shift_Del_p.C697fs|KCNMA1_uc001jxk.1_Frame_Shift_Del_p.C308fs|KCNMA1_uc009xrt.1_Frame_Shift_Del_p.C513fs|KCNMA1_uc001jxl.1_Frame_Shift_Del_p.C347fs|KCNMA1_uc001jxo.3_Frame_Shift_Del_p.C693fs|KCNMA1_uc001jxm.3_Frame_Shift_Del_p.C693fs|KCNMA1_uc001jxq.3_Frame_Shift_Del_p.C693fs NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA. 693 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TTGCAGCCACATTTTTTTATT 0.403 TACC2 10579 broad.mit.edu 37 10 123970380 123970381 + Frame_Shift_Ins INS - - C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:123970379_123970380A>AC uc001lfv.3 + 8 6799_6800 c.6439_6440A>AC c.(6439-6441)accfs p.T2147fs TACC2_uc001lfw.3_Frame_Shift_Ins_p.T293fs|TACC2_uc009xzx.3_Frame_Shift_Ins_p.T2102fs|TACC2_uc010qtv.2_Frame_Shift_Ins_p.T2151fs|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Frame_Shift_Ins_p.T225fs|TACC2_uc001lga.3_Frame_Shift_Ins_p.T225fs|TACC2_uc009xzy.3_Frame_Shift_Ins_p.T225fs|TACC2_uc001lgb.3_Frame_Shift_Ins_p.T182fs|TACC2_uc010qtw.1_Frame_Shift_Ins_p.T242fs NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2147 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACCCACAGAGACCCCCCCAGTG 0.520 INPP5A 3632 broad.mit.edu 37 10 134503931 134503931 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr10:134503930_134503930TA>T uc001llp.3 + 4 589 c.341_341TA>T c.(340-342)ttafs p.L114fs INPP5A_uc001llo.1_Frame_Shift_Del_p.L114fs|INPP5A_uc001llq.3_Frame_Shift_Del_p.L66fs NM_005539 NP_005530 Q14642 I5P1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA. 114 cell communication membrane PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CATGAGTCCTTAAAAAACATC 0.428 CTSD 1509 broad.mit.edu 37 11 1780830 1780831 + Frame_Shift_Ins INS - - G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:1780829_1780830T>TG uc001luc.2 - 2 401_402 c.268_269A>CA c.(268-270)cagfs p.Q90fs MOB2_uc001ltq.2_Intron NM_001909 NP_001900 P07339 CATD_HUMAN Homo sapiens cathepsin D (CTSD), mRNA. 90 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity p.Q90fs*50(2) endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGTGAAGCACTGGGGGGGCGTC 0.649 UBQLN3 50613 broad.mit.edu 37 11 5529644 5529644 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:5529643_5529643TG>T uc021qcw.1 - 0 1146 c.1146_1146CA>A c.(1144-1146)ccafs p.P382fs HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Frame_Shift_Del_p.P382fs NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 382 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGGTGACGATGGGGGAACTC 0.572 UBQLNL 143630 broad.mit.edu 37 11 5536427 5536451 + Frame_Shift_Del DEL CTGGAGATCACCCTTTAATGTCTGT CTGGAGATCACCCTTTAATGTCTGT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:5536426_5536450GCTGGAGATCACCCTTTAATGTCTGT>G uc001maz.4 - 0 1507_1531 c.1222_1246ACAGACATTAAAGGGTGATCTCCAGC>C c.(1222-1248)cagacattaaagggtgatctccagctgfs p.Q408fs HBG1_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN Homo sapiens ubiquilin-like (UBQLNL), mRNA. 408 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) TCATCTGACAGCTGGAGATCACCCTTTAATGTCTGTCTGGAGCTA 0.484 SLC17A6 57084 broad.mit.edu 37 11 22381068 22381093 + Splice_Site DEL GTTGAGGTATGTAACTTCAGGGTGAA GTTGAGGTATGTAACTTCAGGGTGAA - rs116500422 by1000genomes TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:22381067_22381092TGTTGAGGTATGTAACTTCAGGGTGAA>T uc001mqk.3 + 4 986 c.573_splice c.e4+1 p.E191_splice NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA. 191 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TGCAGGGACTTGTTGAGGTATGTAACTTCAGGGTGAAGCCTTTTTA 0.372 PPP2R5B 5526 broad.mit.edu 37 11 64699297 64699297 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:64699296_64699296CT>C uc001obz.3 + 9 1365 c.1072_1072CT>C c.(1072-1074)cttfs p.L358fs PPP2R5B_uc001oby.3_Frame_Shift_Del_p.L358fs NM_006244 NP_006235 Q15173 2A5B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA. 358 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 CCAGGAGCCCCTTTTTAAGCA 0.577 SPDYC 387778 broad.mit.edu 37 11 64940288 64940289 + Frame_Shift_Ins INS - - C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr11:64940287_64940288T>TC uc010rnz.2 + 5 649_650 c.649_650T>TC c.(649-651)tccfs p.S217fs NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA. 217 cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 GCCCCACTGTTCCCCCTGTGGT 0.649 VWF 7450 broad.mit.edu 37 12 6153589 6153589 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:6153588_6153588TG>T uc001qnn.1 - 17 2561 c.2311_2311CA>A c.(2311-2313)atgfs p.M771fs VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 771 Amino-terminal. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGCTTGACCATGGGGGGCCGA 0.542 NCAPD2 9918 broad.mit.edu 37 12 6635473 6635473 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:6635472_6635472AC>A uc001qoo.2 + 19 2547 c.2501_2501AC>A c.(2500-2502)cacfs p.H834fs NCAPD2_uc009zen.1_Frame_Shift_Del_p.H706fs|NCAPD2_uc010sfd.1_Frame_Shift_Del_p.H789fs NM_014865 NP_055680 Q15021 CND1_HUMAN Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA. 834 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 GGCAAACGTCACCCCCCCTTC 0.572 TAS2R8 50836 broad.mit.edu 37 12 10959538 10959544 + Frame_Shift_Del DEL AGTTATT AGTTATT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:10959537_10959543CAGTTATT>C uc010shh.2 - 0 37_43 c.37_43AATAACTG>G c.(37-45)ataactggafs p.I13fs NM_023918 NP_076407 Q9NYW2 TA2R8_HUMAN Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA. 13 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ATGAATTCTCCAGTTATTAGGATTATA 0.357 FAM113B 91523 broad.mit.edu 37 12 47628998 47628998 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:47628997_47628997AG>A uc001rpq.3 + 1 676 c.151_151AG>A c.(151-153)aggfs p.R51fs FAM113B_uc001rpn.3_Frame_Shift_Del_p.R51fs|FAM113B_uc021qxi.1_Frame_Shift_Del_p.R51fs NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 51 hydrolase activity p.R51G(2)|p.R51R(1) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) GCTTAGAGCAAGGGGGGAGCT 0.612 TMTC3 160418 broad.mit.edu 37 12 88553917 88553917 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:88553916_88553916GT>G uc001tau.3 + 4 754 c.534_534GT>G c.(532-534)gtgfs p.V178fs TMTC3_uc009zsm.2_Non-coding_Transcript NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA. 178 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 CCTTGACAGTGTTTTTAGTGG 0.313 UTP20 27340 broad.mit.edu 37 12 101680157 101680158 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:101680156_101680157G>GT uc001tia.1 + 4 540_541 c.384_385G>GT c.(382-387)gagtttfs p.E128fs UTP20_uc009ztz.1_Frame_Shift_Ins_p.E128fs NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 128 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ACTTTCCAGAGTTTTTTTTGAC 0.396 APPL2 55198 broad.mit.edu 37 12 105597552 105597552 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:105597551_105597551TA>T uc010swu.1 - 8 870 c.652_652TA>A c.(652-654)aagfs p.K218fs APPL2_uc010swt.2_Frame_Shift_Del_p.K169fs|APPL2_uc001tlf.1_Frame_Shift_Del_p.K212fs|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Frame_Shift_Del_p.K169fs NM_001251904 NP_001238833 Q8NEU8 DP13B_HUMAN Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA. 212 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GCTCCCTTCTTAAAAAAGTTA 0.433 OAS2 4939 broad.mit.edu 37 12 113436174 113436174 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:113436173_113436173CA>C uc001tuj.3 + 4 1106 c.966_966CA>C c.(964-966)cccfs p.P322fs OAS2_uc001tui.1_Frame_Shift_Del_p.P322fs NM_016817 NP_058197 P29728 OAS2_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA. 322 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 TGACTTCTCCCAACCTGGATA 0.443 CCDC60 160777 broad.mit.edu 37 12 119937911 119937911 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr12:119937910_119937910TA>T uc001txe.3 + 5 1050 c.585_585TA>T c.(583-585)attfs p.I195fs AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 195 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AGAGCACCATTAAAAAAATCA 0.438 FNDC3A 22862 broad.mit.edu 37 13 49710542 49710543 + In_Frame_Ins INS - - AAATTG TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr13:49710541_49710542A>AAAATTG uc001vcm.3 + 5 869_870 c.564_565A>AAAATTG c.(562-567)aaaaaa>aaAAAATTGaa p.190_191insL FNDC3A_uc001vcl.1_In_Frame_Ins_p.190_191insL|FNDC3A_uc001vcn.3_In_Frame_Ins_p.190_191insL|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_In_Frame_Ins_p.134_135insL|FNDC3A_uc001vcq.3_In_Frame_Ins_p.134_135insL NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA. 190 Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) GTTTGCAGAAAAAATTGAAGGA 0.381 SNX6 58533 broad.mit.edu 37 14 35037081 35037082 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:35037080_35037081A>AT uc001wsf.1 - 11 1104_1105 c.1096_1097T>AT c.(1096-1098)atafs p.I366fs SNX6_uc001wse.1_Frame_Shift_Ins_p.I238fs|SNX6_uc010tpm.1_Frame_Shift_Ins_p.I242fs|SNX6_uc010amm.1_Frame_Shift_Ins_p.I242fs NM_152233 NP_067072 Q9UNH7 SNX6_HUMAN Homo sapiens sorting nexin 6 (SNX6), transcript variant 2, mRNA. 354 cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi cytoplasmic vesicle membrane|early endosome membrane|nucleus phosphatidylinositol binding|protein homodimerization activity endometrium(4)|lung(1)|ovary(1) 6 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.0245) AGACTCAGATATTTTTTCAAAT 0.297 GALNTL1 57452 broad.mit.edu 37 14 69800300 69800301 + Frame_Shift_Ins INS - - G rs144140025 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:69800299_69800300T>TG uc001xlb.2 + 8 1276_1277 c.949_950T>TG c.(949-951)tggfs p.W317fs GALNTL1_uc001xla.2_Frame_Shift_Ins_p.W317fs|GALNTL1_uc010aqu.2_Frame_Shift_Ins_p.W317fs NM_020692 NP_065743 Q8N428 GLTL1_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA. 317 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2) 24 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) GATGGACATCTGGGGGGGAGAG 0.470 C14orf102 55051 broad.mit.edu 37 14 90783061 90783061 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr14:90783060_90783060CT>C uc001xyi.2 - 2 502 c.269_269AG>G c.(268-270)aggfs p.R90fs C14orf102_uc001xyj.2_Intron NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA. 90 Lys-rich.|Poly-Lys. protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1) 39 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) ctgatgcttcctttttttctt 0.398 DUOX2 50506 broad.mit.edu 37 15 45392986 45392986 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:45392985_45392985TC>T uc001zun.3 - 22 3176 c.2973_2973GA>A c.(2971-2973)ggafs p.G991fs DUOX2_uc010bea.3_Frame_Shift_Del_p.G991fs NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 991 Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity p.G991E(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GTCCAGGGCCTCCCAGCTCTG 0.592 TRIP4 9325 broad.mit.edu 37 15 64689829 64689831 + In_Frame_Del DEL AAG AAG - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:64689828_64689830AAAG>A uc002anm.3 + 3 489_491 c.429_431AAAG>A c.(427-432)gtaaag>gtAg p.K146del NM_016213 NP_057297 Q15650 TRIP4_HUMAN Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA. 146 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 GCAACTCCGTAAAGAAGAAGACA 0.429 PLEKHO2 80301 broad.mit.edu 37 15 65157548 65157548 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr15:65157547_65157547AC>A uc002anv.3 + 5 1067 c.933_933AC>A c.(931-933)acafs p.T311fs PLEKHO2_uc002anw.3_Frame_Shift_Del_p.T261fs NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA. 311 Pro-rich. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 AGCCCCCTACACCCCCACCCA 0.617 VWA3A 146177 broad.mit.edu 37 16 22137565 22137566 + In_Frame_Ins INS - - GCG TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:22137564_22137565T>TGCG uc010vbq.2 + 16 1694_1695 c.1598_1599T>TGCG c.(1597-1599)ctg>cTGCG p.L533L VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_In_Frame_Ins_p.L541L NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA. 533 VWFA 1. extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CAGCACTCCCTGCGGCTGCTGC 0.510 ATXN2L 11273 broad.mit.edu 37 16 28844622 28844622 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:28844621_28844621GC>G uc002dqy.3 + 13 2068 c.1901_1901GC>G c.(1900-1902)agcfs p.S634fs NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Frame_Shift_Del_p.S610fs|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.S634fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.S634fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.S634fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.S634fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.S640fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.S634fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.S43fs|ATXN2L_uc002drg.3_5'Flank NM_148414 NP_680780 Q8WWM7 ATX2L_HUMAN Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA. 634 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CAAACTGGCAGCCCCCCGGTG 0.627 CYLD 1540 broad.mit.edu 37 16 50825519 50825519 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:50825518_50825518GA>G uc021tib.1 + 12 2281 c.2158_2158GA>G c.(2158-2160)gaafs p.E720fs CYLD_uc010cbs.1_Frame_Shift_Del_p.E717fs|CYLD_uc002egp.1_Frame_Shift_Del_p.E717fs|CYLD_uc002egq.1_Frame_Shift_Del_p.E717fs|CYLD_uc002egr.1_Frame_Shift_Del_p.E717fs|CYLD_uc021tic.1_Non-coding_Transcript NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA. 720 Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) AATTTTTATGGAAAAAAATGA 0.333 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis TPPP3 51673 broad.mit.edu 37 16 67424841 67424856 + Frame_Shift_Del DEL GACGATGTCCACATCG GACGATGTCCACATCG - rs144127847 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:67424840_67424855AGACGATGTCCACATCG>A uc002etb.3 - 1 305_320 c.160_175CGATGTGGACATCGTCT>T c.(160-177)gatgtggacatcgtcttcfs p.D54fs TPPP3_uc002esz.3_Frame_Shift_Del_p.D54fs|TPPP3_uc002eta.3_Frame_Shift_Del_p.D54fs|U1_uc021tkb.1_5'Flank NM_015964 NP_057224 Q9BW30 TPPP3_HUMAN Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA. 54 GTD -> TP (in Ref. 2; AAD44478). microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) ACTTTGGAGAAGACGATGTCCACATCGGTCCCTGTC 0.583 TERF2 7014 broad.mit.edu 37 16 69391425 69391425 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr16:69391424_69391424CT>C uc002exd.3 - 8 1467 c.1341_1341AG>G c.(1339-1341)aagfs p.K447fs NM_005652 NP_005643 Q15554 TERF2_HUMAN Homo sapiens telomeric repeat binding factor 2 (TERF2), mRNA. 447 HTH myb-type. age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity NS(2)|breast(1)|large_intestine(3)|lung(1) 7 Ovarian(137;0.101) AAATTACCTGCTTTTTTGTTA 0.398 FLCN 201163 broad.mit.edu 37 17 17119709 17119710 + Frame_Shift_Ins INS - - G rs80338683 TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:17119708_17119709T>TG uc002gra.4 - 10 1789_1790 c.1285_1286A>CA c.(1285-1287)cacfs p.H429fs PLD6_uc010cpn.3_Non-coding_Transcript NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN Homo sapiens folliculin (FLCN), transcript variant 1, mRNA. 429 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding p.H429fs*39(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GGAGAGCACGTGGGGGGGGATC 0.663 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 SYNGR2 9144 broad.mit.edu 37 17 76167865 76167867 + In_Frame_Del DEL GAC GAC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr17:76167864_76167866GGAC>G uc002jut.3 + 2 638_640 c.611_613GGAC>G c.(610-615)tggacg>tGcg p.204_205WT>C SYNGR2_uc002juu.1_In_Frame_Del_p.D176del O43760 SNG2_HUMAN Homo sapiens synaptogyrin 2 (SYNGR2), mRNA. 0 integral to plasma membrane p.D175N(1) endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) AGGCTGGCGTGGACGACTTCATC 0.635 COLEC12 81035 broad.mit.edu 37 18 331763 331763 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr18:331762_331762GT>G uc002kkm.3 - 7 2184 c.1969_1969AC>C c.(1969-1971)cagfs p.Q657fs NM_130386 NP_569057 Q5KU26 COL12_HUMAN Homo sapiens collectin sub-family member 12 (COLEC12), mRNA. 657 C-type lectin. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CCTACCATCTGTTTTTTTATC 0.423 C19orf26 255057 broad.mit.edu 37 19 1231197 1231197 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:1231196_1231196TG>T uc002lrm.2 - 8 1315 c.1040_1040CA>A c.(1039-1041)cagfs p.Q347fs NM_152769 NP_689982 Q8N350 DOS_HUMAN Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA. 373 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) GAAGTCCTCCTGGGGGGCATC 0.701 HNSCC(14;0.022) ZNF701 55762 broad.mit.edu 37 19 53086002 53086002 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:53086001_53086001TA>T uc010ydn.2 + 4 950 c.887_887TA>T c.(886-888)ttafs p.L296fs ZNF701_uc002pzs.2_Frame_Shift_Del_p.L230fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.L296fs NM_018260 NP_060730 Q9NV72 ZN701_HUMAN Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA. 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) AGCTCACTCTTAAAAAAACAT 0.388 NLRP4 147945 broad.mit.edu 37 19 56370249 56370249 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:56370248_56370248AT>A uc002qmd.4 + 2 1911 c.1489_1489AT>A c.(1489-1491)attfs p.I497fs NLRP4_uc002qmf.3_Frame_Shift_Del_p.I422fs|NLRP4_uc010etf.3_Frame_Shift_Del_p.I328fs NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 497 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGCACATTGGATTTTTTTGGG 0.408 ZIM3 114026 broad.mit.edu 37 19 57646555 57646555 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr19:57646554_57646554AT>A uc002qnz.1 - 4 1537 c.1151_1151AT>T c.(1150-1152)atcfs p.I384fs NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K383Q(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCAGTATGGATTTTTTTATG 0.388 NINL 22981 broad.mit.edu 37 20 25485604 25485604 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:25485603_25485603AC>A uc002wux.1 - 5 703 c.629_629GT>T c.(628-630)gtgfs p.V210fs NINL_uc010gdn.1_Frame_Shift_Del_p.V210fs|NINL_uc010gdo.1_Frame_Shift_Del_p.V50fs|NINL_uc010ztf.1_Frame_Shift_Del_p.V226fs NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN Homo sapiens ninein-like (NINL), mRNA. 210 EF-hand 3. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding p.G209W(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GCTGCTGCCCACCCCCAGCTC 0.657 PLAGL2 5326 broad.mit.edu 37 20 30789952 30789952 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:30789951_30789951AG>A uc002wxn.2 - 1 248 c.31_31CT>T c.(31-33)tggfs p.W11fs NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA. 11 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCTTGAATCCAGGGGGGGACG 0.557 RBL1 5933 broad.mit.edu 37 20 35696449 35696449 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:35696448_35696448TA>T uc002xgi.3 - 2 511 c.432_432TA>A c.(430-432)ttafs p.L144fs RBL1_uc002xgj.1_Frame_Shift_Del_p.L144fs|RBL1_uc010gfv.1_Non-coding_Transcript NM_002895 NP_002886 P28749 RBL1_HUMAN Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA. 144 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) GAAATATATCTAAAAAAATTG 0.333 ZNF831 128611 broad.mit.edu 37 20 57766220 57766221 + Frame_Shift_Ins INS - - C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr20:57766219_57766220G>GC uc002yan.3 + 0 145_146 c.145_146G>GC c.(145-147)gccfs p.A49fs NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 49 Pro-rich. intracellular nucleic acid binding|zinc ion binding p.T52fs*47(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCAGGGCCTGGCCCCCCCCACT 0.728 HMGXB4 10042 broad.mit.edu 37 22 35661038 35661039 + Frame_Shift_Del DEL TG TG - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:35661037_35661038CTG>C uc003anl.3 + 4 830_831 c.656_657CTG>C c.(655-657)actfs p.T219fs HMGXB4_uc011amh.1_Frame_Shift_Del_p.T110fs|HMGXB4_uc003ank.3_Frame_Shift_Del_p.T110fs NM_001003681 NP_001003681 Q9UGU5 HMGX4_HUMAN Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA. 219 Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway NURF complex DNA binding p.A218A(1) breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CAACAAGCGACTGTGAAAAAAT 0.441 H1F0 3005 broad.mit.edu 37 22 38202023 38202023 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:38202022_38202022CA>C uc003aty.3 + 0 909 c.471_471CA>C c.(469-471)gccfs p.A157fs GCAT_uc003atz.3_5'Flank|GCAT_uc003aua.2_5'Flank NM_005318 NP_005309 P07305 H10_HUMAN Homo sapiens H1 histone family, member 0 (H1F0), mRNA. 157 DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly Golgi apparatus|actin cytoskeleton|nucleoplasm|nucleosome DNA binding cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1) 7 Melanoma(58;0.045) CCAAGAAAGCCAAAAAACCCA 0.557 WBP2NL 164684 broad.mit.edu 37 22 42423016 42423016 + Frame_Shift_Del DEL C C - rs140763493 byFrequency TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chr22:42423015_42423015GC>G uc003bbt.3 + 5 854 c.760_760GC>G c.(760-762)gccfs p.A254fs WBP2NL_uc011apk.2_Frame_Shift_Del_p.A126fs|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA. 254 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding p.A254T(2) breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 CGGATATGGAGCCCCACCTCT 0.602 CASK 8573 broad.mit.edu 37 X 41394006 41394007 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e g.chrX:41394005_41394006G>GT uc004dfk.4 - 18 1841_1842 c.1715_1716C>AC c.(1714-1716)aacfs p.N572fs CASK_uc004dfj.4_Frame_Shift_Ins_p.N297fs|CASK_uc004dfl.4_Frame_Shift_Ins_p.N752fs|CASK_uc004dfm.4_Frame_Shift_Ins_p.N729fs|CASK_uc004dfn.4_Frame_Shift_Ins_p.N728fs NM_003688 NP_003679 O14936 CSKP_HUMAN Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA. 757 cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 TGATGAGAGTGTTTTTTATGTG 0.347