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 UBE2J2 118424 broad.mit.edu 37 1 1192586 1192586 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:1192586A>G uc001adn.2 - 4 585 c.275_splice c.e4+1 p.R92_splice UBE2J2_uc001adm.2_Splice_Site_p.R57_splice|UBE2J2_uc001ado.2_Splice_Site_p.R108_splice|UBE2J2_uc001adp.2_Splice_Site_p.R92_splice|UBE2J2_uc001adq.2_Splice_Site_p.R40_splice|UBE2J2_uc001adr.2_Splice_Site_p.R40_splice|UBE2J2_uc001ads.2_Splice_Site_p.R40_splice NM_194458 NP_919440 Q8N2K1 UB2J2_HUMAN ubiquitin conjugating enzyme E2, J2 isoform 3 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase 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;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) CAGGCACCTTACCTGGTGTTG 0.512 CCNL2 81669 broad.mit.edu 37 1 1326184 1326184 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:1326184C>T uc001afi.2 - 6 753 c.721G>A c.(721-723)GCC>ACC p.A241T CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.A19T|CCNL2_uc001afg.1_Missense_Mutation_p.A19T|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 241 Cyclin-like 2. 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) CAGGCACAGGCGATGCTCTCT 0.522 MIB2 142678 broad.mit.edu 37 1 1563724 1563724 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:1563724T>C uc001agg.2 + 15 2214 c.2087T>C c.(2086-2088)CTG>CCG p.L696P MIB2_uc001agh.2_Missense_Mutation_p.L682P|MIB2_uc001agi.2_Missense_Mutation_p.L692P|MIB2_uc001agj.2_Missense_Mutation_p.L537P|MIB2_uc001agk.2_Missense_Mutation_p.L631P|MIB2_uc001agl.1_Missense_Mutation_p.L652P|MIB2_uc001agm.2_Missense_Mutation_p.L573P|MIB2_uc010nyq.1_Missense_Mutation_p.L652P|MIB2_uc009vkh.2_Missense_Mutation_p.L502P|MIB2_uc001agn.2_Missense_Mutation_p.L328P|MIB2_uc001ago.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 696 ANK 6. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 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)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TTCACGGCGCTGCATCTGGCT 0.677 KIAA1751 85452 broad.mit.edu 37 1 1905549 1905549 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:1905549G>A uc001aim.1 - 7 745 c.589C>T c.(589-591)CGG>TGG p.R197W KIAA1751_uc009vkz.1_Missense_Mutation_p.R197W NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 197 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) ACCTGGAGCCGCCGCCCCGTG 0.657 PANK4 55229 broad.mit.edu 37 1 2445527 2445527 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:2445527C>T uc001ajm.1 - 12 1498 c.1489G>A c.(1489-1491)GCC>ACC p.A497T PANK4_uc010nza.1_Missense_Mutation_p.A458T NM_018216 NP_060686 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 497 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1) 3 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GTCCCATAGGCGCTGGGGACA 0.652 ACTRT2 140625 broad.mit.edu 37 1 2938781 2938781 + Silent SNP C C T rs149989896 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:2938781C>T uc001ajz.2 + 1 736 c.531C>T c.(529-531)CAC>CAT p.H177H NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 177 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCCTGCCCCACGCAGTCACCA 0.657 TNFRSF9 3604 broad.mit.edu 37 1 7993307 7993307 + Silent SNP C C T rs143532137 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:7993307C>T uc001aot.2 - 7 722 c.594G>A c.(592-594)GCG>GCA p.A198A NM_001561 NP_001552 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, 198 Helical; (Potential). induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GGAAGAGCAACGCAGTCGACG 0.448 CASZ1 54897 broad.mit.edu 37 1 10700075 10700075 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:10700075G>A uc001aro.2 - 21 4524 c.4204C>T c.(4204-4206)CGC>TGC p.R1402C NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1402 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) ATCCAGAAGCGCTTTTTGGCC 0.637 CASZ1 54897 broad.mit.edu 37 1 10720396 10720396 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:10720396G>A uc001aro.2 - 6 1023 c.703C>T c.(703-705)CGG>TGG p.R235W CASZ1_uc001arp.1_Missense_Mutation_p.R235W|CASZ1_uc009vmx.2_Missense_Mutation_p.R259W|CASZ1_uc001arq.1_Missense_Mutation_p.R94W NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TTAGAGAACCGCGCCCGCTTG 0.647 VPS13D 55187 broad.mit.edu 37 1 12460264 12460264 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:12460264G>A uc001atv.2 + 61 11802 c.11661G>A c.(11659-11661)ACG>ACA p.T3887T VPS13D_uc001atw.2_Silent_p.T3862T|VPS13D_uc001atx.2_Silent_p.T3074T|VPS13D_uc009vnl.2_RNA NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3886 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTGGTACCACGCAGCCCTTCA 0.493 KAZ 23254 broad.mit.edu 37 1 15386668 15386668 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:15386668C>T uc001avm.3 + 6 1198 c.917C>T c.(916-918)GCG>GTG p.A306V KAZ_uc009vog.1_Missense_Mutation_p.A306V|KAZ_uc010obj.1_Missense_Mutation_p.A306V|KAZ_uc001avo.2_Missense_Mutation_p.A300V|KAZ_uc001avp.2_Missense_Mutation_p.A212V|KAZ_uc001avq.2_Missense_Mutation_p.A212V|KAZ_uc001avr.2_Missense_Mutation_p.A209V NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 306 Interaction with PPL. keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 TGCTTTCCAGCGGTCAGGGTG 0.517 AGMAT 79814 broad.mit.edu 37 1 15905525 15905525 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:15905525G>A uc001awv.1 - 4 692 c.549C>T c.(547-549)CAC>CAT p.H183H DNAJC16_uc001awu.2_Intron NM_024758 NP_079034 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) precursor 183 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding skin(1) 1 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) GCGCATCCACGTGCAGCAGCC 0.647 SPEN 23013 broad.mit.edu 37 1 16199371 16199371 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:16199371T>C uc001axk.1 + 2 348 c.144T>C c.(142-144)GCT>GCC p.A48A SPEN_uc010obp.1_5'Flank NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 48 By similarity.|RRM 1. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding p.A48T(1) 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) GAGGAGTGGCTGCCTTTGTGG 0.438 SPEN 23013 broad.mit.edu 37 1 16261133 16261133 + Missense_Mutation SNP G G A rs140025266 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:16261133G>A uc001axk.1 + 11 8602 c.8398G>A c.(8398-8400)GCG>ACG p.A2800T SPEN_uc010obp.1_Missense_Mutation_p.A2759T NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2800 Interaction with RBPSUH (By similarity). 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) TCCGGCAGACGCGGGCTCAGG 0.592 CLCNKA 1187 broad.mit.edu 37 1 16350339 16350339 + Missense_Mutation SNP G G A rs139165394 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:16350339G>A uc001axu.2 + 3 225 c.145G>A c.(145-147)GAC>AAC p.D49N CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.D49N|CLCNKA_uc010obw.1_Missense_Mutation_p.D49N|CLCNKB_uc001axw.3_Intron NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 49 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CCTGGGAGAAGACTGGTACTT 0.602 CLCNKB 1188 broad.mit.edu 37 1 16378782 16378782 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:16378782C>T uc001axw.3 + 15 1578 c.1498C>T c.(1498-1500)CCC>TCC p.P500S FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.P500S|CLCNKB_uc001axy.3_Missense_Mutation_p.P331S NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 500 Helical; (Potential). excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GCATGCACTGCCCGTGCTGAT 0.627 SDHB 6390 broad.mit.edu 37 1 17371343 17371343 + Missense_Mutation SNP C C T rs143058777 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:17371343C>T uc001bae.2 - 2 264 c.113G>A c.(112-114)CGT>CAT p.R38H NM_003000 NP_002991 P21912 DHSB_HUMAN succinate dehydrogenase complex, subunit B, iron 38 respiratory electron transport chain|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II 2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) Succinic acid(DB00139) TTTCTTGATACGGGGAGCTGT 0.413 Mis|N|F paraganglioma|pheochromocytoma Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome SH2D5 400745 broad.mit.edu 37 1 21051063 21051063 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:21051063C>T uc001bdt.1 - 5 829 c.204G>A c.(202-204)GAG>GAA p.E68E SH2D5_uc009vpy.1_Silent_p.E152E|SH2D5_uc001bdu.1_RNA NM_001103160 NP_001096630 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 isoform 2 68 0 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GTGCCCGCTCCTCAGGGTGCT 0.687 ALPL 249 broad.mit.edu 37 1 21890655 21890655 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:21890655C>T uc001bet.2 + 6 851 c.594C>T c.(592-594)AGC>AGT p.S198S ALPL_uc010odn.1_Silent_p.S146S|ALPL_uc010odo.1_Silent_p.S143S|ALPL_uc010odp.1_Silent_p.S121S|ALPL_uc001beu.3_Silent_p.S198S NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 198 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) AGGCCTTGAGCCAGGGCTGTA 0.657 HSPG2 3339 broad.mit.edu 37 1 22206641 22206641 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:22206641C>A uc001bfj.2 - 17 2342 c.2302G>T c.(2302-2304)GGC>TGC p.G768C HSPG2_uc009vqd.2_Missense_Mutation_p.G769C NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 768 Laminin EGF-like 2. 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) CTGGCATGGCCATTGCAATTG 0.552 LUZP1 7798 broad.mit.edu 37 1 23419294 23419294 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:23419294C>T uc001bgk.2 - 4 1845 c.1461G>A c.(1459-1461)GCG>GCA p.A487A LUZP1_uc010odv.1_Silent_p.A487A|LUZP1_uc001bgl.2_Silent_p.A487A|LUZP1_uc001bgm.1_Silent_p.A487A NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 487 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TCCCCTTCCACGCTTTACTGT 0.582 RUNX3 864 broad.mit.edu 37 1 25245743 25245743 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:25245743G>A uc001bjq.2 - 3 943 c.532C>T c.(532-534)CGG>TGG p.R178W RUNX3_uc010oen.1_Missense_Mutation_p.R178W|RUNX3_uc009vrj.2_Missense_Mutation_p.R192W|RUNX3_uc001bjr.2_Missense_Mutation_p.R192W NM_004350 NP_004341 Q13761 RUNX3_HUMAN runt-related transcription factor 3 isoform 2 178 Runt. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) CTGGGCTCCCGGGGTCCGTCC 0.652 RPS6KA1 6195 broad.mit.edu 37 1 26881655 26881655 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:26881655C>T uc001bmr.1 + 10 933 c.770C>T c.(769-771)ACG>ATG p.T257M RPS6KA1_uc010ofe.1_Missense_Mutation_p.T165M|RPS6KA1_uc010off.1_Missense_Mutation_p.T241M|RPS6KA1_uc001bms.1_Missense_Mutation_p.T266M|RPS6KA1_uc009vsl.1_Missense_Mutation_p.T100M NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 257 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GAGATGCTGACGGGCTCCCTG 0.587 SLC9A1 6548 broad.mit.edu 37 1 27426921 27426921 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:27426921G>A uc001bnm.2 - 12 2951 c.2325C>T c.(2323-2325)GAC>GAT p.D775D SLC9A1_uc001bnl.2_Silent_p.D279D|SLC9A1_uc010ofk.1_Silent_p.D436D NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 775 Cytoplasmic (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) TGAAGACATCGTCGGTTCCTG 0.642 SLC9A1 6548 broad.mit.edu 37 1 27436222 27436222 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:27436222C>T uc001bnm.2 - 3 1486 c.860G>A c.(859-861)GGC>GAC p.G287D SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.G287D NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 287 Extracellular (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) GTCCACGATGCCCACGTGTTC 0.637 PTAFR 5724 broad.mit.edu 37 1 28476770 28476770 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:28476770A>G uc001bpl.2 - 2 890 c.763T>C c.(763-765)TGG>CGG p.W255R PTAFR_uc001bpm.3_Missense_Mutation_p.W255R|PTAFR_uc009vte.2_Missense_Mutation_p.W255R NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 255 Extracellular (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) GCAAGGGTCCAGGGCAGCTGC 0.592 PTPRU 10076 broad.mit.edu 37 1 29587410 29587410 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:29587410G>A uc001bru.2 + 7 1249 c.1139G>A c.(1138-1140)TGC>TAC p.C380Y PTPRU_uc001brv.2_Missense_Mutation_p.C380Y|PTPRU_uc001brw.2_Missense_Mutation_p.C380Y|PTPRU_uc009vtq.2_Missense_Mutation_p.C380Y|PTPRU_uc009vtr.2_Missense_Mutation_p.C380Y NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 380 Extracellular (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CGCACCAAATGCGCAGGTGGG 0.662 COL16A1 1307 broad.mit.edu 37 1 32148593 32148593 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:32148593C>A uc001btk.1 - 37 2845 c.2480G>T c.(2479-2481)GGG>GTG p.G827V COL16A1_uc001btj.1_Missense_Mutation_p.G656V|COL16A1_uc001btl.3_Missense_Mutation_p.G827V NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 827 Triple-helical region 5 (COL5) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TCCTTTCACCCCTGGAGATCC 0.562 BAI2 576 broad.mit.edu 37 1 32221745 32221745 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:32221745G>A uc001btn.2 - 4 1047 c.693C>T c.(691-693)GCC>GCT p.A231A BAI2_uc010ogp.1_Silent_p.A219A|BAI2_uc010ogq.1_Silent_p.A231A|BAI2_uc001bto.2_Silent_p.A231A|BAI2_uc001btq.1_Silent_p.A219A|BAI2_uc010ogr.1_Silent_p.A219A NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 231 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TGGTGGAGCCGGCCCCCGCCT 0.716 SPOCD1 90853 broad.mit.edu 37 1 32280436 32280436 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:32280436C>T uc001bts.1 - 2 557 c.499G>A c.(499-501)GCC>ACC p.A167T SPOCD1_uc001btu.2_Missense_Mutation_p.A167T|SPOCD1_uc001btv.2_Intron NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 167 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCGTCTCTGGCCTCCCTGGGC 0.617 KHDRBS1 10657 broad.mit.edu 37 1 32508218 32508218 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:32508218G>A uc001bub.2 + 9 1431 c.1325G>A c.(1324-1326)CGT>CAT p.R442H KHDRBS1_uc001bua.1_Missense_Mutation_p.R403H|KHDRBS1_uc001buc.1_RNA NM_006559 NP_006550 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal 442 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CCATATGGACGTTATTAAAAA 0.493 TMEM39B 55116 broad.mit.edu 37 1 32566073 32566073 + Silent SNP C C T rs148218352 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:32566073C>T uc010ogv.1 + 8 1292 c.1146C>T c.(1144-1146)GGC>GGT p.G382G TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Silent_p.G255G|TMEM39B_uc001bue.3_Silent_p.G383G|TMEM39B_uc001buf.3_Silent_p.G183G|TMEM39B_uc010ogw.1_Silent_p.G183G NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 382 integral to membrane 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GGCCGCAGGGCGTGCTGGTGA 0.537 TMEM39B 55116 broad.mit.edu 37 1 32568262 32568262 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:32568262C>T uc010ogv.1 + 9 1613 c.1467C>T c.(1465-1467)CAC>CAT p.H489H TMEM39B_uc001bue.3_Silent_p.H490H|TMEM39B_uc001buf.3_Silent_p.H290H|TMEM39B_uc010ogw.1_Silent_p.H290H NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 489 integral to membrane 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) ACCTGGACCACCGTTTCTCCT 0.607 YARS 8565 broad.mit.edu 37 1 33276252 33276252 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:33276252C>A uc001bvy.1 - 3 1108 c.320G>T c.(319-321)AGC>ATC p.S107I NM_003680 NP_003671 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 107 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) CACACCAATGCTCTCCAGCAT 0.498 CSMD2 114784 broad.mit.edu 37 1 34042964 34042964 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:34042964C>A uc001bxn.1 - 50 7543 c.7514G>T c.(7513-7515)AGC>ATC p.S2505I CSMD2_uc001bxm.1_Missense_Mutation_p.S2503I NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2505 Sushi 14.|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) GATGGCCATGCTGTGTCCCAC 0.637 CSMD2 114784 broad.mit.edu 37 1 34209180 34209180 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:34209180G>A uc001bxn.1 - 14 1783 c.1754C>T c.(1753-1755)CCG>CTG p.P585L CSMD2_uc001bxm.1_Missense_Mutation_p.P625L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 585 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AACCCCAGACGGGCTGGTGAA 0.592 DLGAP3 58512 broad.mit.edu 37 1 35370066 35370066 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:35370066C>T uc001byc.2 - 1 919 c.919G>A c.(919-921)GGG>AGG p.G307R NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 307 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CCTTCCGACCCGCCCGAGCGC 0.662 ADPRHL2 54936 broad.mit.edu 37 1 36557382 36557382 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:36557382G>A uc001bzt.2 + 3 525 c.472G>A c.(472-474)GCT>ACT p.A158T ADPRHL2_uc001bzu.2_Missense_Mutation_p.A4T NM_017825 NP_060295 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 158 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity pancreas(1) 1 Myeloproliferative disorder(586;0.0393) CATGCGGGTGGCTGGCATCTC 0.592 C1orf113 79729 broad.mit.edu 37 1 36785329 36785329 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:36785329G>A uc010oia.1 + 14 1093 c.1065G>A c.(1063-1065)ATG>ATA p.M355I C1orf113_uc010oib.1_Missense_Mutation_p.M244I|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Missense_Mutation_p.M1I NM_001162530 NP_001156002 A4FU49 SH321_HUMAN SH3 domain-containing protein C1orf113 isoform 239 0 Myeloproliferative disorder(586;0.0393) GAACCCCCATGCCGGACAAGA 0.617 ZC3H12A 80149 broad.mit.edu 37 1 37948726 37948726 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:37948726G>A uc001cbb.3 + 6 1464 c.1314G>A c.(1312-1314)TCG>TCA p.S438S ZC3H12A_uc001cbc.1_Silent_p.S233S NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 438 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCCTGGACTCGGGCATTGGCT 0.662 INPP5B 3633 broad.mit.edu 37 1 38338648 38338648 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:38338648A>G uc001ccg.1 - 19 2235 c.2141T>C c.(2140-2142)ATG>ACG p.M714T INPP5B_uc009vvk.1_Missense_Mutation_p.M655T|INPP5B_uc001ccf.1_Missense_Mutation_p.M550T NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 794 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGGCTCTCTCATGTAACACAG 0.458 KCNQ4 9132 broad.mit.edu 37 1 41284205 41284205 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:41284205C>T uc001cgh.1 + 4 643 c.561C>T c.(559-561)GCC>GCT p.A187A KCNQ4_uc001cgi.1_Silent_p.A187A NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein 187 Helical; Name=Segment S3; (Potential). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) CCTCGGTGGCCGTCATCGCCG 0.706 FOXJ3 22887 broad.mit.edu 37 1 42657107 42657107 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:42657107T>C uc001che.2 - 11 1530 c.1218A>G c.(1216-1218)CAA>CAG p.Q406Q FOXJ3_uc001chf.2_Silent_p.Q406Q|FOXJ3_uc001chg.2_Silent_p.Q406Q|FOXJ3_uc001chh.1_Silent_p.Q372Q NM_014947 NP_055762 Q9UPW0 FOXJ3_HUMAN forkhead box J3 406 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) GCTGGCTGTGTTGCTGTGGGT 0.587 WDR65 149465 broad.mit.edu 37 1 43664312 43664312 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:43664312G>A uc001cip.1 + 8 1544 c.1423G>A c.(1423-1425)GGA>AGA p.G475R EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.G464R|WDR65_uc001ciq.1_Missense_Mutation_p.G475R NM_152498 NP_689711 Q96MR6 WDR65_HUMAN WD repeat domain 65 475 WD 7. skin(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TAGAGGATGCGGAGAGGTAAA 0.408 EIF2B3 8891 broad.mit.edu 37 1 45407190 45407190 + Missense_Mutation SNP T T C rs151056457 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:45407190T>C uc001cmt.1 - 4 569 c.442A>G c.(442-444)AAA>GAA p.K148E EIF2B3_uc001cmu.1_Missense_Mutation_p.K148E|EIF2B3_uc001cmv.1_Missense_Mutation_p.K148E|EIF2B3_uc001cmw.2_Missense_Mutation_p.K148E NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 148 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GCTTTTTTTTTCCCCTTTTGA 0.338 UROD 7389 broad.mit.edu 37 1 45480642 45480642 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:45480642G>T uc001cna.1 + 9 1014 c.906G>T c.(904-906)CAG>CAT p.Q302H UROD_uc001cnb.1_Missense_Mutation_p.Q267H|UROD_uc001cnc.1_Missense_Mutation_p.Q207H NM_000374 NP_000365 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 302 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity 0 Acute lymphoblastic leukemia(166;0.155) TGACATTGCAGGGCAACCTGG 0.577 Porphyria_Cutanea_Tarda_Type_II OREG0013449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MMACHC 25974 broad.mit.edu 37 1 45973071 45973071 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:45973071C>T uc009vxv.2 + 2 274 c.125C>T c.(124-126)CCG>CTG p.P42L MMACHC_uc001cny.2_RNA NM_015506 NP_056321 Q9Y4U1 MMAC_HUMAN methylmalonic aciduria (cobalamin deficiency) 42 cobalamin binding 0 Acute lymphoblastic leukemia(166;0.155) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTCCACCTACCGCTGCCAGGA 0.607 MAST2 23139 broad.mit.edu 37 1 46496962 46496962 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:46496962G>T uc001cov.2 + 23 3275 c.2992G>T c.(2992-2994)GCT>TCT p.A998S MAST2_uc001cow.2_Missense_Mutation_p.A998S|MAST2_uc001coy.1_3'UTR|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 998 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) TTCCAGTCCAGGTATGGCCCA 0.617 SPATA6 54558 broad.mit.edu 37 1 48771536 48771536 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:48771536T>C uc001crr.1 - 12 1374 c.1209A>G c.(1207-1209)CTA>CTG p.L403L SPATA6_uc001crs.1_Silent_p.L387L|SPATA6_uc010omv.1_Silent_p.L389L NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 precursor 403 cell differentiation|multicellular organismal development|spermatogenesis extracellular region ovary(1) 1 CATCTTTCTCTAGGTCTCTCT 0.358 ZCCHC11 23318 broad.mit.edu 37 1 52991321 52991321 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:52991321C>T uc001ctx.2 - 2 866 c.632G>A c.(631-633)CGA>CAA p.R211Q ZCCHC11_uc001cty.2_Missense_Mutation_p.R211Q|ZCCHC11_uc001ctz.2_Missense_Mutation_p.R211Q|ZCCHC11_uc009vze.1_Missense_Mutation_p.R211Q|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Missense_Mutation_p.R211Q|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.R211Q NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 211 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 CTTCTGAGATCGTGGTGAGTT 0.383 INADL 10207 broad.mit.edu 37 1 62237151 62237151 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:62237151G>A uc001dab.2 + 6 687 c.573G>A c.(571-573)ACG>ACA p.T191T INADL_uc009waf.1_Silent_p.T191T|INADL_uc001daa.2_Silent_p.T191T|INADL_uc001dad.3_5'UTR NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 191 PDZ 1. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 TTAATCACACGCCATTGGATC 0.353 PDE4B 5142 broad.mit.edu 37 1 66834549 66834549 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:66834549G>A uc001dcn.2 + 16 1933 c.1742G>A c.(1741-1743)CGC>CAC p.R581H PDE4B_uc009war.2_Missense_Mutation_p.R489H|PDE4B_uc001dco.2_Missense_Mutation_p.R581H|PDE4B_uc001dcp.2_Missense_Mutation_p.R566H|PDE4B_uc001dcq.2_Missense_Mutation_p.R409H|PDE4B_uc009was.2_Missense_Mutation_p.R348H NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 581 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TGGACAGACCGCATCATGGAG 0.478 PTGFR 5737 broad.mit.edu 37 1 78958817 78958817 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:78958817C>A uc001din.2 + 2 655 c.389C>A c.(388-390)GCC>GAC p.A130D PTGFR_uc001dim.2_Missense_Mutation_p.A130D NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 130 Helical; Name=3; (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) AGTGTGATGGCCATTGAGCGG 0.408 GBP6 163351 broad.mit.edu 37 1 89849285 89849285 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:89849285C>T uc001dnf.2 + 9 1714 c.1440C>T c.(1438-1440)GCC>GCT p.A480A GBP6_uc010ost.1_Silent_p.A350A NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 480 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) CAGATAAAGCCCTCACTGATA 0.473 LRRC8D 55144 broad.mit.edu 37 1 90398726 90398726 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:90398726T>C uc001dnm.2 + 3 524 c.99T>C c.(97-99)GTT>GTC p.V33V LRRC8D_uc001dnn.2_Silent_p.V33V NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 33 Helical; (Potential). integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) ACCTAGCTGTTGTTATGTTAA 0.428 LRRC8D 55144 broad.mit.edu 37 1 90400443 90400443 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:90400443A>G uc001dnm.2 + 3 2241 c.1816A>G c.(1816-1818)ATT>GTT p.I606V LRRC8D_uc001dnn.2_Missense_Mutation_p.I606V NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 606 LRR 4. integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) TCCCTCCAACATTACAGATGT 0.413 EVI5 7813 broad.mit.edu 37 1 92979232 92979232 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:92979232G>A uc001dox.2 - 18 2424 c.2414C>T c.(2413-2415)TCG>TTG p.S805L EVI5_uc010otf.1_Missense_Mutation_p.S816L NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 805 Targeting to the centrosomes.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) GGTTGAATACGACTCTCTTCT 0.448 RPL5 6125 broad.mit.edu 37 1 93303108 93303108 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:93303108T>C uc001doz.2 + 6 701 c.623T>C c.(622-624)ATG>ACG p.M208T FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.M158T|RPL5_uc001dpd.2_Missense_Mutation_p.M9T NM_000969 NP_000960 P46777 RL5_HUMAN ribosomal protein L5 208 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome 0 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) GCAGATTACATGCGCTACTTA 0.378 CNN3 1266 broad.mit.edu 37 1 95368702 95368702 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:95368702G>A uc010otw.1 - 4 304 c.222C>T c.(220-222)AAC>AAT p.N74N CNN3_uc010otv.1_Silent_p.N33N|CNN3_uc001dqz.3_Silent_p.N74N|CNN3_uc010otx.1_Silent_p.N74N NM_001839 NP_001830 Q15417 CNN3_HUMAN calponin 3 74 CH. actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) GTGAGGACTCGTTGACCTTCT 0.403 PRMT6 55170 broad.mit.edu 37 1 107599519 107599519 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:107599519T>A uc010ous.1 + 1 253 c.182T>A c.(181-183)ATC>AAC p.I61N NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 61 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) GAGGAGATGATCGCGGACCGC 0.677 VAV3 10451 broad.mit.edu 37 1 108303435 108303435 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:108303435G>A uc001dvk.1 - 10 1042 c.988C>T c.(988-990)CGT>TGT p.R330C VAV3_uc010ouw.1_Missense_Mutation_p.R330C|VAV3_uc001dvl.1_Missense_Mutation_p.R154C|VAV3_uc010oux.1_Missense_Mutation_p.R330C NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 330 DH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TTTAAAACACGTTGCATAGGA 0.279 AMPD2 271 broad.mit.edu 37 1 110170866 110170866 + Silent SNP C C T rs114727970 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:110170866C>T uc009wfh.1 + 11 1946 c.1404C>T c.(1402-1404)TAC>TAT p.Y468Y AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.Y387Y|AMPD2_uc001dyc.1_Silent_p.Y468Y|AMPD2_uc010ovr.1_Silent_p.Y393Y|AMPD2_uc010ovs.1_Silent_p.Y350Y|AMPD2_uc001dyd.1_Silent_p.Y349Y|AMPD2_uc001dye.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 468 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TCACGGCCTACGACCTGAGTG 0.622 AMPD2 271 broad.mit.edu 37 1 110173650 110173650 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:110173650G>A uc009wfh.1 + 19 3058 c.2516G>A c.(2515-2517)CGC>CAC p.R839H AMPD2_uc001dyb.1_Missense_Mutation_p.R758H|AMPD2_uc001dyc.1_Missense_Mutation_p.R839H|AMPD2_uc010ovr.1_Missense_Mutation_p.R764H|AMPD2_uc001dyd.1_Missense_Mutation_p.R720H|AMPD2_uc001dye.1_Missense_Mutation_p.R108H NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 839 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CCAGACATCCGCGTGGGCTAC 0.617 KCNA3 3738 broad.mit.edu 37 1 111217053 111217053 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:111217053C>T uc001dzv.1 - 1 603 c.379G>A c.(379-381)GAG>AAG p.E127K NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 127 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCAGCGTCTCGGGGAACTGG 0.672 CHIA 27159 broad.mit.edu 37 1 111857901 111857901 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:111857901C>T uc001eas.2 + 6 427 c.324C>T c.(322-324)GCC>GCT p.A108A CHIA_uc001ear.2_5'UTR|CHIA_uc001eaq.2_5'UTR|CHIA_uc009wgc.2_5'UTR|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 108 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) GTTTCACTGCCATGGTTTCTA 0.517 DDX20 11218 broad.mit.edu 37 1 112305362 112305362 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:112305362T>C uc001ebs.2 + 9 1525 c.1168T>C c.(1168-1170)TGG>CGG p.W390R DDX20_uc010owf.1_Missense_Mutation_p.W152R|DDX20_uc001ebt.2_5'UTR NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 390 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCATTGGATTGGGAGACATA 0.383 PPM1J 333926 broad.mit.edu 37 1 113253204 113253204 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:113253204C>T uc001ect.1 - 9 1275 c.1248G>A c.(1246-1248)GAG>GAA p.E416E PPM1J_uc009wgl.1_RNA|PPM1J_uc001ecs.1_Silent_p.E210E NM_005167 NP_005158 Q5JR12 PPM1J_HUMAN protein phosphatase 1J (PP2C domain containing) 416 PP2C-like. breast(2)|central_nervous_system(1) 3 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGGGCAGTGCTCATATTGTG 0.547 VANGL1 81839 broad.mit.edu 37 1 116206712 116206712 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:116206712G>A uc001efv.1 + 4 906 c.635G>A c.(634-636)CGG>CAG p.R212Q VANGL1_uc009wgy.1_Missense_Mutation_p.R210Q|VANGL1_uc001efw.1_Missense_Mutation_p.R212Q NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN vang-like 1 212 Extracellular (Potential). multicellular organismal development integral to membrane protein binding p.R212W(1) central_nervous_system(1) 1 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-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) TTGGACTCTCGGGACCGGAAT 0.517 IGSF3 3321 broad.mit.edu 37 1 117122481 117122481 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:117122481T>G uc001egr.1 - 10 3572 c.2867A>C c.(2866-2868)GAC>GCC p.D956A IGSF3_uc001egq.1_Missense_Mutation_p.D976A NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 956 Ig-like C2-type 8.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GACCACTGTGTCCACCTGCAG 0.473 NOTCH2 4853 broad.mit.edu 37 1 120465373 120465373 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:120465373G>A uc001eik.2 - 27 5144 c.4888C>T c.(4888-4890)CGC>TGC p.R1630C NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1630 Negative regulatory region (NRR).|Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.R1630L(1) lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACACACTGGCGGTTGTCAATT 0.542 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome PPIAL4G 644591 broad.mit.edu 37 1 143767651 143767651 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:143767651G>A uc001ejt.2 - 1 231 c.198C>T c.(196-198)GAC>GAT p.D66D NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 66 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity 0 GGTGTGTGAAGTCACCACCCT 0.458 PDE4DIP 9659 broad.mit.edu 37 1 145015864 145015864 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:145015864T>C uc001elx.3 - 3 559 c.224A>G c.(223-225)GAG>GGG p.E75G NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Missense_Mutation_p.E75G|PDE4DIP_uc001elo.2_Missense_Mutation_p.E146G|PDE4DIP_uc001emh.2_Missense_Mutation_p.E146G|uc001emj.2_Intron NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACTTACCTTCTCAAAGTCTCG 0.438 T PDGFRB MPD HIST2H3D 653604 broad.mit.edu 37 1 149784833 149784833 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:149784833C>T uc010pbl.1 - 1 404 c.404G>A c.(403-405)CGG>CAG p.R135Q HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 135 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 GCCTTAGGCCCGCTCCCCGCG 0.572 LASS2 29956 broad.mit.edu 37 1 150940936 150940936 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:150940936G>A uc001evy.2 - 3 613 c.226C>T c.(226-228)CTG>TTG p.L76L LASS2_uc001evz.2_Silent_p.L76L|LASS2_uc009wmh.2_5'UTR NM_181746 NP_859530 Q96G23 CERS2_HUMAN LAG1 longevity assurance 2 76 Cytoplasmic (Potential).|Homeobox. endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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) GGTGCCCGCAGCCGAGTTTTC 0.552 ANXA9 8416 broad.mit.edu 37 1 150959137 150959137 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:150959137G>T uc001ewa.2 + 9 1082 c.612G>T c.(610-612)CAG>CAT p.Q204H NM_003568 NP_003559 O76027 ANXA9_HUMAN annexin A9 204 Annexin 3. cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity 0 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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) AAGATGTCCAGGTGAGCAGGG 0.527 FAM63A 55793 broad.mit.edu 37 1 150971889 150971889 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:150971889C>T uc001ewf.2 - 8 2621 c.937G>A c.(937-939)GTC>ATC p.V313I FAM63A_uc001ewc.2_Missense_Mutation_p.V171I|FAM63A_uc010pcm.1_Missense_Mutation_p.V218I|FAM63A_uc001ewd.2_Missense_Mutation_p.V171I|FAM63A_uc001ewe.2_Missense_Mutation_p.V147I|FAM63A_uc010pcn.1_Missense_Mutation_p.V361I|FAM63A_uc001ewg.2_Missense_Mutation_p.V313I NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 313 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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) CGGAAAAAGACGCTAAGTTCA 0.542 PIP5K1A 8394 broad.mit.edu 37 1 151206963 151206963 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:151206963T>C uc001exj.2 + 8 1382 c.930T>C c.(928-930)CGT>CGC p.R310R PIP5K1A_uc001exi.2_Silent_p.R297R|PIP5K1A_uc010pcu.1_Silent_p.R298R|PIP5K1A_uc001exk.2_Silent_p.R297R|PIP5K1A_uc010pcv.1_Silent_p.R67R NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 310 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 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;0.181) CCCTGCAGCGTGACTGTTTGG 0.403 ZNF687 57592 broad.mit.edu 37 1 151259493 151259493 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:151259493C>T uc001exq.2 + 2 824 c.726C>T c.(724-726)AGC>AGT p.S242S ZNF687_uc001exp.1_Silent_p.S251S|ZNF687_uc009wmo.2_Silent_p.S242S|ZNF687_uc009wmp.2_Silent_p.S242S NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 242 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGGCTCCAGCCCTAAGGCCA 0.642 RORC 6097 broad.mit.edu 37 1 151785515 151785515 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:151785515C>T uc001ezh.2 - 9 1301 c.1193G>A c.(1192-1194)AGC>AAC p.S398N RORC_uc001ezg.2_Missense_Mutation_p.S377N|RORC_uc010pdo.1_Missense_Mutation_p.S452N|RORC_uc010pdp.1_Missense_Mutation_p.S386N NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a 398 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AAAGATGGAGCTGATGAGCTC 0.527 NUP210L 91181 broad.mit.edu 37 1 154042791 154042791 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:154042791T>C uc001fdw.2 - 17 2584 c.2512A>G c.(2512-2514)ATG>GTG p.M838V NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.M838V NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 838 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTTGCTACCATTTCCACTGAT 0.338 ZBTB7B 51043 broad.mit.edu 37 1 154987838 154987838 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:154987838G>T uc001fgk.3 + 3 860 c.702G>T c.(700-702)GAG>GAT p.E234D ZBTB7B_uc009wpa.2_Missense_Mutation_p.E234D|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E268D|ZBTB7B_uc010peq.1_Missense_Mutation_p.E268D|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E234D NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 234 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGACCTATGAGGAGGAGGAGG 0.672 YY1AP1 55249 broad.mit.edu 37 1 155629928 155629928 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:155629928G>A uc001fln.2 - 11 1935 c.1911C>T c.(1909-1911)GCC>GCT p.A637A YY1AP1_uc001flg.2_Silent_p.A376A|YY1AP1_uc010pgg.1_Silent_p.A476A|YY1AP1_uc010pgh.1_Silent_p.A580A|YY1AP1_uc010pgi.1_Silent_p.A729A|YY1AP1_uc001flh.2_Silent_p.A709A|YY1AP1_uc009wqt.2_Silent_p.A560A|YY1AP1_uc001flk.2_Silent_p.A580A|YY1AP1_uc001fll.2_Silent_p.A591A|YY1AP1_uc009wqv.2_Silent_p.A308A|YY1AP1_uc001flm.2_Silent_p.A580A|YY1AP1_uc001fli.2_Silent_p.A591A|YY1AP1_uc009wqu.2_Silent_p.A424A|YY1AP1_uc001flj.2_Silent_p.A571A|YY1AP1_uc009wqw.2_Silent_p.A560A|YY1AP1_uc001flo.2_Silent_p.A525A|YY1AP1_uc001flp.2_Silent_p.A591A NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 637 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CCAAGAGGGTGGCGATGGGAA 0.537 GON4L 54856 broad.mit.edu 37 1 155726824 155726824 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:155726824C>T uc001flz.2 - 27 5539 c.5442G>A c.(5440-5442)GAG>GAA p.E1814E GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.E1814E|GON4L_uc009wrh.1_Silent_p.E1814E|GON4L_uc001fma.1_Silent_p.E1814E|GON4L_uc001fmb.3_Silent_p.E1010E NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 1814 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GAGGCTCCTCCTCTTCTTCCA 0.448 MEX3A 92312 broad.mit.edu 37 1 156047022 156047022 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:156047022G>A uc001fnd.3 - 2 906 c.906C>T c.(904-906)AAC>AAT p.N302N NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 302 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) CCAGGAAGTCGTTTTCATTGT 0.657 BCAN 63827 broad.mit.edu 37 1 156616629 156616629 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:156616629C>T uc001fpp.2 + 3 464 c.128C>T c.(127-129)GCG>GTG p.A43V BCAN_uc001fpo.2_Missense_Mutation_p.A43V NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 43 Ig-like V-type. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCGGGCGACGCGCCACTGCAG 0.721 NES 10763 broad.mit.edu 37 1 156641614 156641614 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:156641614T>G uc001fpq.2 - 4 2499 c.2366A>C c.(2365-2367)AAG>ACG p.K789T NM_006617 NP_006608 P48681 NEST_HUMAN nestin 789 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTCAAGAGACTTCAGTGGTTC 0.423 INSRR 3645 broad.mit.edu 37 1 156821927 156821927 + Missense_Mutation SNP C C T rs140347940 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:156821927C>T uc010pht.1 - 3 948 c.694G>A c.(694-696)GAA>AAA p.E232K NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.E232K NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 232 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCAGGCATTCGGTGTGGCAG 0.672 CD5L 922 broad.mit.edu 37 1 157803265 157803265 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:157803265G>T uc001frk.3 - 5 899 c.756C>A c.(754-756)CTC>CTA p.L252L NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 252 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCCCAGAGCAGAGGTTGTCTC 0.537 KIRREL 55243 broad.mit.edu 37 1 158063221 158063221 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:158063221C>T uc001frn.3 + 12 1968 c.1564C>T c.(1564-1566)CGG>TGG p.R522W KIRREL_uc010pib.1_Missense_Mutation_p.R422W|KIRREL_uc009wsq.2_Missense_Mutation_p.R358W|KIRREL_uc001fro.3_Missense_Mutation_p.R336W NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 522 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CTTCCTCTACCGGCGCCGCAA 0.592 CASQ1 844 broad.mit.edu 37 1 160165298 160165298 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:160165298C>A uc010pja.1 + 5 882 c.625C>A c.(625-627)CCC>ACC p.P209T NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 209 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCCCTACATCCCCTTCTTCGC 0.562 ARHGAP30 257106 broad.mit.edu 37 1 161026241 161026241 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:161026241G>A uc001fxl.2 - 3 628 c.282C>T c.(280-282)TGC>TGT p.C94C ARHGAP30_uc001fxk.2_Silent_p.C94C|ARHGAP30_uc001fxm.2_Intron|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 94 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AATAGGCCTTGCACAGGGAGG 0.577 FCRLB 127943 broad.mit.edu 37 1 161697329 161697329 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:161697329C>T uc001gbh.2 + 8 1392 c.1158C>T c.(1156-1158)AGC>AGT p.S386S FCRLB_uc009wus.2_Silent_p.S386S|FCRLB_uc001gbj.2_3'UTR|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_3'UTR|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Silent_p.S386S|FCRLB_uc001gbn.3_3'UTR NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 386 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GCCTTCTGAGCCGGGTGGTCC 0.642 PBX1 5087 broad.mit.edu 37 1 164768972 164768972 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:164768972C>A uc001gct.2 + 4 805 c.547C>A c.(547-549)CTG>ATG p.L183M PBX1_uc010pku.1_Missense_Mutation_p.L183M|PBX1_uc010pkv.1_Missense_Mutation_p.L100M|PBX1_uc001gcs.2_Missense_Mutation_p.L183M|PBX1_uc010pkw.1_Missense_Mutation_p.L73M NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 183 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 GATGAATCTCCTGCGAGAGCA 0.547 T TCF3|EWSR1 pre B-ALL|myoepithelioma LMX1A 4009 broad.mit.edu 37 1 165182974 165182974 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:165182974G>A uc001gcy.1 - 4 794 c.573C>T c.(571-573)GAC>GAT p.D191D LMX1A_uc001gcz.1_Silent_p.D191D|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 191 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) GGCGCTTATGGTCCTTGCCTT 0.488 GPA33 10223 broad.mit.edu 37 1 167024259 167024259 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:167024259A>G uc001gea.1 - 6 1125 c.781T>C c.(781-783)TGC>CGC p.C261R NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 261 Cytoplasmic (Potential).|Poly-Cys. integral to plasma membrane receptor activity 0 TTCCCTCGGCAGCAGCAGCAG 0.567 ADCY10 55811 broad.mit.edu 37 1 167792355 167792355 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:167792355C>T uc001ger.2 - 29 4357 c.4059G>A c.(4057-4059)CCG>CCA p.P1353P ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Silent_p.P1261P|ADCY10_uc010plj.1_Silent_p.P1200P NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 1353 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 GGATCAATTGCGGGTATCTAT 0.343 GPR161 23432 broad.mit.edu 37 1 168054846 168054846 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:168054846T>C uc001gfc.2 - 8 1827 c.1513A>G c.(1513-1515)AGC>GGC p.S505G GPR161_uc001gfb.2_Missense_Mutation_p.S373G|GPR161_uc010pll.1_Missense_Mutation_p.S415G|GPR161_uc010plm.1_Missense_Mutation_p.S391G|GPR161_uc009wvo.2_Missense_Mutation_p.S522G|GPR161_uc001gfd.2_Missense_Mutation_p.S505G|GPR161_uc010pln.1_Missense_Mutation_p.S525G NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 505 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) AGAGTTCTGCTGCCTCGGCGG 0.612 SCYL3 57147 broad.mit.edu 37 1 169823669 169823669 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:169823669C>T uc001ggs.2 - 13 2109 c.1911G>A c.(1909-1911)CCG>CCA p.P637P SCYL3_uc010plw.1_Silent_p.P229P|SCYL3_uc001ggt.2_Silent_p.P583P|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 637 Interaction with EZR. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACACTTTTGGCGGCTCGATTT 0.438 TNR 7143 broad.mit.edu 37 1 175372559 175372559 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:175372559G>A uc001gkp.1 - 2 774 c.693C>T c.(691-693)TCC>TCT p.S231S TNR_uc009wwu.1_Silent_p.S231S|TNR_uc010pmz.1_Silent_p.S231S NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 231 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ACCGGAGTTCGGAACAGTCAT 0.637 PAPPA2 60676 broad.mit.edu 37 1 176525653 176525653 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:176525653T>G uc001gkz.2 + 2 1359 c.195T>G c.(193-195)CAT>CAG p.H65Q PAPPA2_uc001gky.1_Missense_Mutation_p.H65Q|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 65 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CTCCACAGCATCACCTCTTTG 0.552 PAPPA2 60676 broad.mit.edu 37 1 176659457 176659457 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:176659457C>T uc001gkz.2 + 5 3486 c.2322C>T c.(2320-2322)ACC>ACT p.T774T PAPPA2_uc001gky.1_Silent_p.T774T|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 774 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GTGCCGACACCGCCCCCACTC 0.562 ASTN1 460 broad.mit.edu 37 1 177001708 177001708 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:177001708C>T uc001glc.2 - 3 961 c.749G>A c.(748-750)CGC>CAC p.R250H ASTN1_uc001glb.1_Missense_Mutation_p.R250H|ASTN1_uc001gld.1_Missense_Mutation_p.R250H|ASTN1_uc009wwx.1_Missense_Mutation_p.R250H|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 250 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CAGATGGTGGCGCAGATCAGT 0.617 LHX4 89884 broad.mit.edu 37 1 180243505 180243505 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:180243505T>C uc001goe.1 + 6 1187 c.964T>C c.(964-966)TCC>CCC p.S322P uc001gof.1_Intron NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 322 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GTCCCTGCCATCCCACGCTCC 0.562 MR1 3140 broad.mit.edu 37 1 181018395 181018395 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:181018395A>G uc001goq.1 + 2 280 c.275A>G c.(274-276)CAG>CGG p.Q92R MR1_uc001gop.2_Missense_Mutation_p.Q92R|MR1_uc001gor.1_Missense_Mutation_p.Q92R|MR1_uc001gos.1_Missense_Mutation_p.Q92R|MR1_uc010pns.1_Missense_Mutation_p.Q92R NM_001531 NP_001522 Q95460 HMR1_HUMAN major histocompatibility complex, class 92 Extracellular (Potential).|Ligand-binding.|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity skin(1) 1 AGGGGCTGGCAGCAGATGTTC 0.607 RNASEL 6041 broad.mit.edu 37 1 182555837 182555837 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:182555837G>A uc001gpj.1 - 1 272 c.105C>T c.(103-105)AAC>AAT p.N35N RNASEL_uc009wxz.1_Silent_p.N35N|RNASEL_uc001gpk.2_Silent_p.N35N|RNASEL_uc009wya.1_Silent_p.N35N NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 35 ANK 1. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 CAACATCTTCGTTTTGAACAG 0.512 Hereditary_Prostate_Cancer GLT25D2 23127 broad.mit.edu 37 1 183920195 183920195 + Missense_Mutation SNP C C T rs150214481 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:183920195C>T uc001gqr.2 - 8 1454 c.1082G>A c.(1081-1083)CGC>CAC p.R361H GLT25D2_uc010poj.1_Missense_Mutation_p.R361H|GLT25D2_uc001gqq.2_Missense_Mutation_p.R98H|GLT25D2_uc001gqs.2_Missense_Mutation_p.R241H NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 361 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 ATACAGTGTGCGCAGCATCCG 0.448 HMCN1 83872 broad.mit.edu 37 1 185962394 185962394 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:185962394C>T uc001grq.1 + 23 3687 c.3458C>T c.(3457-3459)ACA>ATA p.T1153I HMCN1_uc001grr.1_Missense_Mutation_p.T494I NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1153 Ig-like C2-type 8. T -> I (in Ref. 2; BAB71216). response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGTGTTGCCACAAATATTGCT 0.413 HMCN1 83872 broad.mit.edu 37 1 186114613 186114613 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:186114613G>A uc001grq.1 + 92 14574 c.14345G>A c.(14344-14346)CGC>CAC p.R4782H HMCN1_uc001grs.1_Missense_Mutation_p.R351H NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4782 TSP type-1 5. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CGGCGGTACCGCACATGTGAT 0.572 FAM5C 339479 broad.mit.edu 37 1 190067293 190067293 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:190067293C>T uc001gse.1 - 8 2388 c.2156G>A c.(2155-2157)CGT>CAT p.R719H FAM5C_uc010pot.1_Missense_Mutation_p.R617H NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 719 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) ATCTAGACGACGCTGACCAGG 0.483 CDC73 79577 broad.mit.edu 37 1 193205392 193205392 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:193205392C>T uc001gtb.2 + 15 1566 c.1323C>T c.(1321-1323)CGC>CGT p.R441R NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 441 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 GTAGGGACCGCGTTGTAGCCG 0.463 Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome CFH 3075 broad.mit.edu 37 1 196706662 196706662 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:196706662G>T uc001gtj.3 + 17 2894 c.2654G>T c.(2653-2655)AGG>ATG p.R885M NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 885 Sushi 15. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 AATTCATCCAGGTCTTCACAA 0.343 ZNF281 23528 broad.mit.edu 37 1 200377909 200377909 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:200377909T>G uc001gve.2 - 2 1032 c.925A>C c.(925-927)AAA>CAA p.K309Q ZNF281_uc001gvf.1_Missense_Mutation_p.K309Q|ZNF281_uc001gvg.1_Missense_Mutation_p.K273Q NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 309 C2H2-type 2. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 CTATGAATTTTCTCATGTCTC 0.428 DDX59 83479 broad.mit.edu 37 1 200635401 200635401 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:200635401A>G uc009wzk.2 - 2 711 c.468T>C c.(466-468)TCT>TCC p.S156S DDX59_uc010ppl.1_Silent_p.S156S NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 156 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 ACTCTGGCTCAGAATCAGCCT 0.408 LAD1 3898 broad.mit.edu 37 1 201356058 201356058 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:201356058C>T uc001gwm.2 - 3 666 c.431G>A c.(430-432)CGG>CAG p.R144Q LAD1_uc009wzu.1_Missense_Mutation_p.R166Q NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 144 basement membrane structural molecule activity 0 ACTCAGTCTCCGGCGAGGTGG 0.617 KDM5B 10765 broad.mit.edu 37 1 202722105 202722105 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:202722105C>T uc001gyf.2 - 12 1745 c.1629G>A c.(1627-1629)GTG>GTA p.V543V KDM5B_uc009xag.2_Silent_p.V579V|KDM5B_uc001gyg.1_Silent_p.V385V NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 543 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 CCGGCTGGGACACAAAGAGTT 0.493 MDM4 4194 broad.mit.edu 37 1 204518448 204518448 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:204518448G>A uc001hba.2 + 11 1273 c.1111G>A c.(1111-1113)GTT>ATT p.V371I MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Missense_Mutation_p.V244I|MDM4_uc001hay.1_Missense_Mutation_p.V321I|MDM4_uc001hbb.2_Missense_Mutation_p.V244I|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA NM_002393 NP_002384 O15151 MDM4_HUMAN mouse double minute 4 homolog 371 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGCTCCTGTCGTTAGACCTAA 0.418 A GBM|bladder|retinoblastoma CNTN2 6900 broad.mit.edu 37 1 205031109 205031109 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:205031109G>A uc001hbr.2 + 9 1359 c.1090G>A c.(1090-1092)GGG>AGG p.G364R CNTN2_uc001hbq.1_Missense_Mutation_p.G255R|CNTN2_uc009xbi.2_Missense_Mutation_p.G255R|CNTN2_uc001hbs.2_Missense_Mutation_p.G152R NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 364 Ig-like C2-type 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCTGCGGAACGGGGAGCCTCT 0.642 OREG0014144 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMEM81 388730 broad.mit.edu 37 1 205053001 205053001 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:205053001C>T uc001hbt.2 - 1 588 c.448G>A c.(448-450)GCT>ACT p.A150T NM_203376 NP_976310 Q6P7N7 TMM81_HUMAN transmembrane protein 81 precursor 150 Ig-like.|Extracellular (Potential). integral to membrane 0 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) TACTCCTGAGCATATTTAAAC 0.478 PIGR 5284 broad.mit.edu 37 1 207111045 207111045 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:207111045G>A uc001hez.2 - 4 624 c.440C>T c.(439-441)ACG>ATG p.T147M PIGR_uc009xbz.2_Missense_Mutation_p.T147M NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 147 Ig-like V-type 2.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 GATGGTCACCGTTCTGCCCAG 0.522 CR1 1378 broad.mit.edu 37 1 207787831 207787831 + Nonsense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:207787831G>T uc001hfy.2 + 32 5448 c.5308G>T c.(5308-5310)GAA>TAA p.E1770* CR1_uc001hfx.2_Nonsense_Mutation_p.E2220* NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1770 Extracellular (Potential).|Sushi 27. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TCCAGTGTGTGAACGTGAGTA 0.408 LAMB3 3914 broad.mit.edu 37 1 209803987 209803987 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:209803987C>T uc001hhg.2 - 8 1306 c.916G>A c.(916-918)GAG>AAG p.E306K LAMB3_uc009xco.2_Missense_Mutation_p.E306K|LAMB3_uc001hhh.2_Missense_Mutation_p.E306K|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.E242K NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 306 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TCCTGGCCCTCCGCCGGTCTC 0.612 HHAT 55733 broad.mit.edu 37 1 210637863 210637863 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:210637863G>A uc009xcx.2 + 8 1037 c.871G>A c.(871-873)GCC>ACC p.A291T HHAT_uc010psq.1_Missense_Mutation_p.A154T|HHAT_uc001hhz.3_Missense_Mutation_p.A291T|HHAT_uc010psr.1_Missense_Mutation_p.A292T|HHAT_uc010pss.1_Missense_Mutation_p.A246T|HHAT_uc009xcy.2_Missense_Mutation_p.A226T|HHAT_uc010pst.1_Missense_Mutation_p.A228T|HHAT_uc010psu.1_Missense_Mutation_p.A226T|HHAT_uc001hia.3_5'UTR NM_001122834 NP_001116306 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 291 Helical; (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) ACTGGCGTTAGCCCAGGTGCT 0.567 RCOR3 55758 broad.mit.edu 37 1 211444604 211444604 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:211444604G>T uc001hig.2 + 2 249 c.80G>T c.(79-81)GGA>GTA p.G27V RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.G85V|RCOR3_uc010psw.1_Missense_Mutation_p.G85V|RCOR3_uc001hif.2_Missense_Mutation_p.G85V NM_018254 NP_060724 Q9P2K3 RCOR3_HUMAN REST corepressor 3 isoform d 27 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) AAAGACAATGGAGGGATGCTT 0.353 RPS6KC1 26750 broad.mit.edu 37 1 213445950 213445950 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:213445950T>C uc010ptr.1 + 15 3333 c.3174T>C c.(3172-3174)CCT>CCC p.P1058P RPS6KC1_uc001hkd.2_Silent_p.P1046P|RPS6KC1_uc010pts.1_Silent_p.P846P|RPS6KC1_uc010ptt.1_Silent_p.P846P|RPS6KC1_uc010ptu.1_Silent_p.P877P|RPS6KC1_uc010ptv.1_Silent_p.P593P|RPS6KC1_uc001hke.2_Silent_p.P877P NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1058 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TTTTTACCCCTGTGGATTGGG 0.458 PTPN14 5784 broad.mit.edu 37 1 214638039 214638039 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:214638039C>T uc001hkk.1 - 2 379 c.108G>A c.(106-108)ACG>ACA p.T36T PTPN14_uc010pty.1_Intron NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 36 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) CCACCGACAGCGTGCACTCGA 0.597 ESRRG 2104 broad.mit.edu 37 1 216850489 216850489 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:216850489A>G uc001hkw.1 - 2 567 c.401T>C c.(400-402)ATC>ACC p.I134T ESRRG_uc001hky.1_Missense_Mutation_p.I111T|ESRRG_uc009xdp.1_Missense_Mutation_p.I111T|ESRRG_uc001hkz.1_Missense_Mutation_p.I111T|ESRRG_uc010puc.1_Missense_Mutation_p.I111T|ESRRG_uc001hla.1_Missense_Mutation_p.I111T|ESRRG_uc001hlb.1_Missense_Mutation_p.I111T|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.I111T|ESRRG_uc001hld.1_Missense_Mutation_p.I111T|ESRRG_uc001hkx.1_Missense_Mutation_p.I139T|ESRRG_uc009xdo.1_Missense_Mutation_p.I111T|ESRRG_uc001hle.1_Missense_Mutation_p.I111T NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 134 Nuclear receptor.|NR C4-type. positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CCCAGAAGCGATGTCACCACA 0.488 DISP1 84976 broad.mit.edu 37 1 223176686 223176686 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:223176686C>T uc001hnu.1 + 8 2094 c.1947C>T c.(1945-1947)GTC>GTT p.V649V NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 649 Helical; (Potential).|SSD. 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) TTTTGATGGTCACATGGCTTC 0.413 DISP1 84976 broad.mit.edu 37 1 223178672 223178672 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:223178672C>T uc001hnu.1 + 8 4080 c.3933C>T c.(3931-3933)GGC>GGT p.G1311G NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1311 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) TCCAAAACGGCGTGGCACCTC 0.577 SUSD4 55061 broad.mit.edu 37 1 223465929 223465929 + Silent SNP G G A rs148470082 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:223465929G>A uc001hnx.2 - 2 847 c.213C>T c.(211-213)AGC>AGT p.S71S SUSD4_uc001hny.3_Silent_p.S71S|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Silent_p.S71S|SUSD4_uc010pux.1_Intron NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN sushi domain containing 4 isoform a 71 Sushi 1.|Extracellular (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(131;0.0611) AAACCCCTCCGCTGGGGGTCC 0.498 CABC1 56997 broad.mit.edu 37 1 227171262 227171262 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:227171262G>A uc001hqm.1 + 14 4509 c.1090G>A c.(1090-1092)GTG>ATG p.V364M CABC1_uc001hqn.1_Missense_Mutation_p.V364M|CABC1_uc009xeq.1_Missense_Mutation_p.V312M|CABC1_uc010pvq.1_Missense_Mutation_p.V85M|CABC1_uc010pvr.1_Missense_Mutation_p.V38M|CABC1_uc001hqo.1_Missense_Mutation_p.V85M|CABC1_uc009xer.1_Translation_Start_Site NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 364 Protein kinase. cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) GTACCCTGGCGTGGCCCAGAG 0.612 OBSCN 84033 broad.mit.edu 37 1 228466971 228466971 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:228466971C>T uc009xez.1 + 27 7266 c.7222C>T c.(7222-7224)CGG>TGG p.R2408W OBSCN_uc001hsn.2_Missense_Mutation_p.R2408W|OBSCN_uc001hsp.1_Missense_Mutation_p.R107W|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2408 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CCCCTCAGTGCGGCCACCTAA 0.642 OBSCN 84033 broad.mit.edu 37 1 228495060 228495060 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:228495060C>T uc009xez.1 + 46 12338 c.12294C>T c.(12292-12294)GCC>GCT p.A4098A OBSCN_uc001hsn.2_Silent_p.A4098A NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4098 Ig-like 42. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGTCGGGGGCCGTGGTGCAAT 0.647 ACTA1 58 broad.mit.edu 37 1 229568041 229568041 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:229568041G>A uc001htm.2 - 4 697 c.592C>T c.(592-594)CGT>TGT p.R198C NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 198 R -> L (in NEM3). muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GAGTAGCCACGCTCAGTGAGG 0.483 URB2 9816 broad.mit.edu 37 1 229772467 229772467 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:229772467G>A uc001hts.1 + 4 2243 c.2107G>A c.(2107-2109)GAT>AAT p.D703N URB2_uc009xfd.1_Missense_Mutation_p.D703N NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 703 nucleolus central_nervous_system(2)|ovary(1) 3 TTTGAGGTGCGATGCTGCCTT 0.463 SIPA1L2 57568 broad.mit.edu 37 1 232649957 232649957 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:232649957A>G uc001hvg.2 - 1 1287 c.1129T>C c.(1129-1131)TGT>CGT p.C377R NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 377 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGGGACTCACAGTTGCCTGTC 0.537 RYR2 6262 broad.mit.edu 37 1 237777646 237777646 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:237777646C>T uc001hyl.1 + 37 5338 c.5218C>T c.(5218-5220)CCT>TCT p.P1740S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1740 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CACCCTGTTCCCTGATGAGAA 0.527 ZNF238 10472 broad.mit.edu 37 1 244218598 244218598 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:244218598A>G uc001iae.2 + 1 2017 c.1495A>G c.(1495-1497)AAA>GAA p.K499E ZNF238_uc001iad.3_Missense_Mutation_p.K508E|ZNF238_uc001iaf.1_3'UTR NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 499 negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) CTTGTCGGTCAAAAGCGAAGC 0.453 OR2B11 127623 broad.mit.edu 37 1 247614857 247614857 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:247614857G>A uc010pyx.1 - 1 428 c.428C>T c.(427-429)GCT>GTT p.A143V NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 143 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTGACAGAGAGCACGGTGCAT 0.642 OR2W5 441932 broad.mit.edu 37 1 247654874 247654874 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:247654874T>C uc001icz.1 + 1 445 c.445T>C c.(445-447)TGG>CGG p.W149R NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GACTGTGGCCTGGTGCTGTGG 0.597 TUBB8 347688 broad.mit.edu 37 10 93721 93721 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:93721T>A uc001ifi.2 - 4 611 c.611A>T c.(610-612)AAC>ATC p.N204I TUBB8_uc009xhe.2_Missense_Mutation_p.N167I|TUBB8_uc010pzs.1_Missense_Mutation_p.N132I NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 204 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CAGAGCTTCGTTATCTATGCA 0.542 ITIH5 80760 broad.mit.edu 37 10 7618870 7618870 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:7618870G>A uc001ijq.2 - 10 1603 c.1524C>T c.(1522-1524)AAC>AAT p.N508N ITIH5_uc001ijp.2_Silent_p.N294N|ITIH5_uc001ijr.1_Silent_p.N508N NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 508 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TCTCCGAGCCGTTGAAGTAGT 0.557 CDNF 441549 broad.mit.edu 37 10 14867588 14867588 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:14867588G>A uc001inb.1 - 3 313 c.275C>T c.(274-276)GCC>GTC p.A92V CDNF_uc010qbv.1_Missense_Mutation_p.A92V|CDNF_uc001inc.1_5'UTR NM_001029954 NP_001025125 Q49AH0 CDNF_HUMAN arginine-rich, mutated in early stage 92 extracellular region growth factor activity 0 GATCTTTGTGGCTGCGTCTTT 0.423 FAM171A1 221061 broad.mit.edu 37 10 15256478 15256478 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:15256478G>A uc001iob.2 - 8 1116 c.1109C>T c.(1108-1110)GCG>GTG p.A370V NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 370 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GAATTCTGACGCTCGGCGTGA 0.572 MLLT10 8028 broad.mit.edu 37 10 21823702 21823702 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:21823702C>T uc001iqs.2 + 2 477 c.129C>T c.(127-129)GAC>GAT p.D43D MLLT10_uc001iqt.2_Silent_p.D43D|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.D43D|MLLT10_uc001iqr.1_Silent_p.D43D|MLLT10_uc001iqq.1_Silent_p.D43D|MLLT10_uc001iqu.1_Silent_p.D43D|MLLT10_uc009xke.1_RNA|MLLT10_uc001iqw.1_Silent_p.D43D|MLLT10_uc001iqx.1_RNA|MLLT10_uc009xkf.1_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 43 PHD-type 1. 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 TTTATTGCGACGGGCACGGCT 0.453 T MLL|PICALM|CDK6 AL ANKRD30A 91074 broad.mit.edu 37 10 37508154 37508154 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:37508154A>G uc001iza.1 + 34 3445 c.3346A>G c.(3346-3348)ATA>GTA p.I1116V NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1172 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TAAAGTTCTGATAGCTGAGAA 0.368 BMS1 9790 broad.mit.edu 37 10 43287077 43287077 + Silent SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:43287077T>G uc001jaj.2 + 6 997 c.639T>G c.(637-639)GGT>GGG p.G213G NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 213 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 ATGTTTAGGGTGCCAAGCTGT 0.333 BMS1 9790 broad.mit.edu 37 10 43326431 43326431 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:43326431G>A uc001jaj.2 + 23 4094 c.3736G>A c.(3736-3738)GAG>AAG p.E1246K NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 1246 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GGAGGAGGAGGAGAAGCTGAA 0.527 GDF2 2658 broad.mit.edu 37 10 48414360 48414360 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:48414360C>T uc001jfa.1 - 2 671 c.508G>A c.(508-510)GTG>ATG p.V170M NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 170 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 TAAATGACCACGCTTCCTTTC 0.517 ERCC6 2074 broad.mit.edu 37 10 50667115 50667115 + Missense_Mutation SNP C C T rs4253229 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:50667115C>T uc001jhs.3 - 21 4382 c.4228G>A c.(4228-4230)GGG>AGG p.G1410R ERCC6_uc009xod.2_Missense_Mutation_p.G570R|ERCC6_uc010qgr.1_Missense_Mutation_p.G780R|ERCC6_uc001jhr.3_Missense_Mutation_p.G778R NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1410 Ubiquitin-binding domain (UBD). base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 TGCAGGTGCCCGCTTTCACTT 0.542 Direct_reversal_of_damage|NER ERCC6 2074 broad.mit.edu 37 10 50682250 50682250 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:50682250G>A uc001jhs.3 - 13 2575 c.2421C>T c.(2419-2421)AAC>AAT p.N807N ERCC6_uc009xod.2_5'UTR|ERCC6_uc010qgr.1_Silent_p.N177N|ERCC6_uc001jhr.3_Silent_p.N175N NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 807 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 GATCAGGGTGGTTGCAAATTT 0.423 Direct_reversal_of_damage|NER ERCC6 2074 broad.mit.edu 37 10 50686478 50686478 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:50686478A>G uc001jhs.3 - 11 2362 c.2208T>C c.(2206-2208)GAT>GAC p.D736D ERCC6_uc009xod.2_5'Flank|ERCC6_uc010qgr.1_Silent_p.D106D|ERCC6_uc001jhr.3_Silent_p.D136D NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 736 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 GATTTATGGTATCTCGTAAGA 0.378 Direct_reversal_of_damage|NER CHAT 1103 broad.mit.edu 37 10 50863468 50863468 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:50863468C>T uc001jhz.2 + 13 1966 c.1813C>T c.(1813-1815)CGT>TGT p.R605C CHAT_uc001jhv.1_Missense_Mutation_p.R487C|CHAT_uc001jhx.1_Missense_Mutation_p.R487C|CHAT_uc001jhy.1_Missense_Mutation_p.R487C|CHAT_uc001jia.2_Missense_Mutation_p.R487C|CHAT_uc010qgs.1_Missense_Mutation_p.R487C NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 605 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) GGATGCCATCCGTGCCCAGAC 0.577 DKK1 22943 broad.mit.edu 37 10 54074806 54074806 + Missense_Mutation SNP C C T rs138015066 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:54074806C>T uc001jjr.2 + 2 521 c.367C>T c.(367-369)CGT>TGT p.R123C uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 123 DKK-type Cys-1. negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 ACGCTGCATGCGTCACGCTAT 0.562 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ANK3 288 broad.mit.edu 37 10 61941099 61941099 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:61941099G>A uc001jky.2 - 18 2364 c.2172C>T c.(2170-2172)GAC>GAT p.D724D ANK3_uc010qih.1_Silent_p.D707D|ANK3_uc001jkz.3_Silent_p.D718D|ANK3_uc001jlb.1_Silent_p.D253D|ANK3_uc001jlc.1_Silent_p.D385D NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 724 ANK 20. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTGTCTGGGCGTCCACATGAG 0.493 HKDC1 80201 broad.mit.edu 37 10 71020998 71020998 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:71020998C>T uc001jpf.3 + 16 2453 c.2320C>T c.(2320-2322)CGT>TGT p.R774C HKDC1_uc010qje.1_Missense_Mutation_p.R637C|HKDC1_uc009xqb.2_RNA NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 774 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 GATTTCAGAGCGTCTCCGGAC 0.542 HK1 3098 broad.mit.edu 37 10 71139778 71139778 + Missense_Mutation SNP C C T rs142724189 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:71139778C>T uc001jpl.3 + 9 1293 c.1192C>T c.(1192-1194)CGT>TGT p.R398C HK1_uc001jpg.3_Missense_Mutation_p.R386C|HK1_uc001jph.3_Missense_Mutation_p.R402C|HK1_uc001jpi.3_Missense_Mutation_p.R402C|HK1_uc001jpj.3_Missense_Mutation_p.R433C|HK1_uc001jpk.3_Missense_Mutation_p.R397C|HK1_uc009xqd.2_Missense_Mutation_p.R276C NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 398 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 GAACCGCCTGCGTGATAACAA 0.562 PSAP 5660 broad.mit.edu 37 10 73577214 73577214 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:73577214C>T uc001jsm.2 - 14 1663 c.1559G>A c.(1558-1560)CGC>CAC p.R520H PSAP_uc001jsl.2_Missense_Mutation_p.R244H NM_002778 NP_002769 P07602 SAP_HUMAN prosaposin isoform a preproprotein 520 Saposin A-type 2. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding ovary(1) 1 CCACACATGGCGTTTGCAATG 0.483 CBARA1 10367 broad.mit.edu 37 10 74135630 74135630 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:74135630A>G uc001jtb.1 - 12 1320 c.1187T>C c.(1186-1188)GTG>GCG p.V396A CBARA1_uc010qjw.1_Missense_Mutation_p.V196A|CBARA1_uc010qjx.1_Missense_Mutation_p.V196A|CBARA1_uc009xqo.1_RNA NM_006077 NP_006068 Q9BPX6 MICU1_HUMAN calcium binding atopy-related autoantigen 1 394 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding ovary(1) 1 CTGCATGGTCACTGAAAAAAG 0.463 USP54 159195 broad.mit.edu 37 10 75296060 75296060 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:75296060A>G uc001juo.2 - 9 1128 c.1111T>C c.(1111-1113)TAC>CAC p.Y371H USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.Y371H|USP54_uc010qkl.1_Missense_Mutation_p.Y371H|USP54_uc001juq.1_Missense_Mutation_p.Y164H NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 371 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) GTCCTGCTGTATGACTGGAAC 0.547 ADK 132 broad.mit.edu 37 10 76074474 76074474 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:76074474T>G uc001jwi.2 + 4 316 c.244T>G c.(244-246)TCT>GCT p.S82A ADK_uc010qlb.1_Missense_Mutation_p.S82A|ADK_uc001jwj.2_Missense_Mutation_p.S65A|ADK_uc010qlc.1_Missense_Mutation_p.S47A NM_006721 NP_006712 P55263 ADK_HUMAN adenosine kinase isoform b 82 purine base metabolic process|purine ribonucleoside salvage cytosol adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor ovary(1)|skin(1) 2 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811) TGCTGGTGGCTCTACCCAGAA 0.323 MYST4 23522 broad.mit.edu 37 10 76784854 76784854 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:76784854C>T uc001jwn.1 + 17 4004 c.3511C>T c.(3511-3513)CAG>TAG p.Q1171* MYST4_uc001jwo.1_Nonsense_Mutation_p.Q879*|MYST4_uc001jwp.1_Nonsense_Mutation_p.Q988* NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1171 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) GCCAATGCCACAGCTGGAGCC 0.488 T CREBBP AML SAMD8 142891 broad.mit.edu 37 10 76910646 76910646 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:76910646C>T uc001jwx.1 + 2 463 c.360C>T c.(358-360)GAC>GAT p.D120D SAMD8_uc001jwy.1_Silent_p.D120D NM_144660 NP_653261 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 120 sphingomyelin biosynthetic process integral to membrane 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) ATGACTGTGACGGACCCATAA 0.453 ACTA2 59 broad.mit.edu 37 10 90699305 90699305 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:90699305C>T uc001kfp.2 - 7 883 c.767G>A c.(766-768)CGT>CAT p.R256H STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.R211H|ACTA2_uc001kfq.2_Missense_Mutation_p.R256H|uc001kfo.1_RNA NM_001613 NP_001604 P62736 ACTA_HUMAN alpha 2 actin 256 response to virus cytosol ATP binding 0 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) GCAGCGGAAACGTTCATTTCC 0.517 IFIT2 3433 broad.mit.edu 37 10 91066258 91066258 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:91066258G>T uc009xts.2 + 2 720 c.545G>T c.(544-546)AGC>ATC p.S182I LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 182 TPR 3. negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding ovary(1)|skin(1) 2 Colorectal(252;0.0161) GCAATAGCAAGCTACCGTCTG 0.502 KIF20B 9585 broad.mit.edu 37 10 91478615 91478615 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:91478615G>A uc001kgs.1 + 12 1492 c.1420G>A c.(1420-1422)GCC>ACC p.A474T KIF20B_uc001kgr.1_Missense_Mutation_p.A474T NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 474 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 GAAGTTCTCCGCCATTGCACA 0.254 ANKRD1 27063 broad.mit.edu 37 10 92672639 92672639 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:92672639C>T uc001khe.1 - 9 1192 c.944G>A c.(943-945)CGC>CAC p.R315H NM_014391 NP_055206 Q15327 ANKR1_HUMAN cardiac ankyrin repeat protein 315 ANK 5. cellular lipid metabolic process|defense response|signal transduction DNA binding 0 Colorectal(252;0.0475) TGTAGCTATGCGAGAGGTCTT 0.468 HHEX 3087 broad.mit.edu 37 10 94452213 94452213 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:94452213C>T uc001kid.2 + 2 513 c.450C>T c.(448-450)ATC>ATT p.I150I NM_002729 NP_002720 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 150 Homeobox. anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding ovary(1) 1 ACCAGACCATCGAGCTGGAGA 0.572 MYOF 26509 broad.mit.edu 37 10 95111464 95111464 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:95111464A>G uc001kin.2 - 33 3744 c.3621T>C c.(3619-3621)AAT>AAC p.N1207N MYOF_uc001kio.2_Silent_p.N1194N|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1207 Cytoplasmic (Potential).|C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 CTTTGGGTGGATTCTGTAGAA 0.408 LGI1 9211 broad.mit.edu 37 10 95518094 95518094 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:95518094G>A uc001kjc.3 + 1 529 c.193G>A c.(193-195)GTT>ATT p.V65I LGI1_uc010qnv.1_Missense_Mutation_p.V65I|LGI1_uc001kjd.3_Missense_Mutation_p.V65I|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 65 LRRNT. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) TCCACGCACCGTTCCTCCTGA 0.438 COX15 1355 broad.mit.edu 37 10 101486739 101486739 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:101486739G>T uc001kqb.3 - 4 1185 c.568C>A c.(568-570)CTC>ATC p.L190I COX15_uc001kqc.3_Missense_Mutation_p.L190I|COX15_uc010qpj.1_Missense_Mutation_p.L11I NM_078470 NP_510870 Q7KZN9 COX15_HUMAN COX15 homolog isoform 1 190 Helical; (Potential). heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) AAGCAGACGAGGCCACAGAGG 0.458 COX15 1355 broad.mit.edu 37 10 101489383 101489383 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:101489383G>A uc001kqb.3 - 2 816 c.199C>T c.(199-201)CGG>TGG p.R67W COX15_uc001kqc.3_Missense_Mutation_p.R67W|COX15_uc010qpj.1_5'UTR|CUTC_uc010qpk.1_5'Flank|CUTC_uc001kqd.3_5'Flank|CUTC_uc001kqe.3_5'Flank NM_078470 NP_510870 Q7KZN9 COX15_HUMAN COX15 homolog isoform 1 67 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) CCCACCACCCGCTCAGCAGCC 0.542 LBX1 10660 broad.mit.edu 37 10 102987152 102987152 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:102987152C>T uc001ksx.2 - 2 866 c.721G>A c.(721-723)GCC>ACC p.A241T uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 241 muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) GCCTTCGGGGCGCCTGGGGGG 0.751 NFKB2 4791 broad.mit.edu 37 10 104160088 104160088 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:104160088G>T uc001kvb.2 + 16 1903 c.1638G>T c.(1636-1638)CTG>CTT p.L546L NFKB2_uc001kva.2_Silent_p.L546L|NFKB2_uc001kvd.2_Silent_p.L546L|NFKB2_uc009xxc.2_Silent_p.L546L NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 546 ANK 2. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) TGAGCTTTCTGCTGCGGGTAG 0.657 T IGH@ B-NHL CNNM2 54805 broad.mit.edu 37 10 104678648 104678648 + Silent SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:104678648C>G uc001kwm.2 + 1 535 c.411C>G c.(409-411)GGC>GGG p.G137G CNNM2_uc001kwn.2_Silent_p.G137G|CNNM2_uc001kwl.2_Silent_p.G137G NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 137 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) ggctggggggccccgcgccgc 0.522 CALHM1 255022 broad.mit.edu 37 10 105215212 105215212 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:105215212G>A uc001kxe.2 - 2 988 c.848C>T c.(847-849)GCG>GTG p.A283V CALHM2_uc001kxd.1_5'Flank NM_001001412 NP_001001412 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 283 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding ovary(1) 1 TTCCTCCTCCGCACCATCGGG 0.642 COL17A1 1308 broad.mit.edu 37 10 105809853 105809853 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:105809853G>T uc001kxr.2 - 28 2327 c.2158C>A c.(2158-2160)CTC>ATC p.L720I MIR936_hsa-mir-936|MI0005758_5'Flank NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 720 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGACCTGTGAGGCCTCGAGGT 0.463 SORCS1 114815 broad.mit.edu 37 10 108923852 108923852 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:108923852G>A uc001kym.2 - 1 441 c.433C>T c.(433-435)CGG>TGG p.R145W SORCS1_uc001kyl.2_Missense_Mutation_p.R145W|SORCS1_uc009xxs.2_Missense_Mutation_p.R145W|SORCS1_uc001kyn.1_Missense_Mutation_p.R145W|SORCS1_uc001kyo.2_Missense_Mutation_p.R145W NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 145 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCCGGGTCCCGCTCCCGAGTC 0.657 ADD3 120 broad.mit.edu 37 10 111878421 111878421 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:111878421C>A uc001kyt.3 + 7 958 c.644C>A c.(643-645)CCC>CAC p.P215H ADD3_uc001kys.3_Missense_Mutation_p.P215H|ADD3_uc001kyu.2_Missense_Mutation_p.P215H|ADD3_uc001kyv.2_Missense_Mutation_p.P215H|ADD3_uc001kyw.2_Missense_Mutation_p.P215H NM_016824 NP_058432 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) isoform a 215 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton ovary(2)|skin(2)|large_intestine(1) 5 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GGATTCAGTCCCCATGCTGCA 0.403 SMC3 9126 broad.mit.edu 37 10 112338430 112338430 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:112338430G>A uc001kze.2 + 7 521 c.395G>A c.(394-396)CGA>CAA p.R132Q NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 132 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GGTTTTTCTCGAAGCAATCCT 0.303 PNLIPRP2 5408 broad.mit.edu 37 10 118404543 118404543 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:118404543A>G uc001lcq.2 + 16 1373 c.1350_splice c.e16-2 p.E450_splice NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) TTTCCTCCACAGGTATAATTT 0.438 KIAA1598 57698 broad.mit.edu 37 10 118700118 118700118 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:118700118G>T uc009xyw.2 - 9 1215 c.717C>A c.(715-717)TTC>TTA p.F239L KIAA1598_uc001lcz.3_Missense_Mutation_p.F239L|KIAA1598_uc010qso.1_Missense_Mutation_p.F179L|KIAA1598_uc010qsp.1_Missense_Mutation_p.F239L|KIAA1598_uc010qsq.1_Missense_Mutation_p.F179L|KIAA1598_uc001lcy.3_Missense_Mutation_p.F209L NM_001127211 NP_001120683 A0MZ66 SHOT1_HUMAN shootin1 isoform a 239 Potential. axon guidance axon 0 all cancers(201;0.00494) TTTGCTCAATGAACATCTGCA 0.368 VAX1 11023 broad.mit.edu 37 10 118896101 118896101 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:118896101C>T uc009xyx.2 - 2 556 c.311G>A c.(310-312)CGC>CAC p.R104H VAX1_uc001ldb.1_Missense_Mutation_p.R104H NM_001112704 NP_001106175 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 isoform a 104 Homeobox. nucleus sequence-specific DNA binding ovary(2) 2 all cancers(201;0.0108) GAAGGACGTGCGCGTCCTCTT 0.652 EIF3A 8661 broad.mit.edu 37 10 120796733 120796733 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:120796733G>A uc001ldu.2 - 21 3963 c.3817C>T c.(3817-3819)CGT>TGT p.R1273C EIF3A_uc010qsu.1_Missense_Mutation_p.R1239C NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1273 Asp-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) TCACGGCGACGGTCATCCCTA 0.542 RGS10 6001 broad.mit.edu 37 10 121275031 121275031 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:121275031A>G uc001lee.2 - 3 365 c.365T>C c.(364-366)CTC>CCC p.L122P RGS10_uc001lef.2_Missense_Mutation_p.L116P|RGS10_uc001leg.2_Missense_Mutation_p.L130P NM_002925 NP_002916 O43665 RGS10_HUMAN regulator of G-protein signaling 10 isoform b 122 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) CTGGTCCTGGAGTTTCTGGAA 0.507 C10orf119 79892 broad.mit.edu 37 10 121618608 121618608 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:121618608T>C uc001ler.2 - 3 528 c.230A>G c.(229-231)GAC>GGC p.D77G C10orf119_uc001les.1_5'UTR NM_024834 NP_079110 Q9BTE3 MCMBP_HUMAN chromosome 10 open reading frame 119 77 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding 0 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.0044) AAACTCAGGGTCAAACATATC 0.333 FGFR2 2263 broad.mit.edu 37 10 123279676 123279676 + Silent SNP C C T rs138769323 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:123279676C>T uc010qtk.1 - 7 1403 c.756G>A c.(754-756)TCG>TCA p.S252S FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Silent_p.S137S|FGFR2_uc010qti.1_Silent_p.S163S|FGFR2_uc010qtj.1_Silent_p.S252S|FGFR2_uc010qtl.1_Silent_p.S252S|FGFR2_uc010qtm.1_Silent_p.S137S|FGFR2_uc001lfl.3_Silent_p.S252S|FGFR2_uc001lfm.2_Silent_p.S163S|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Silent_p.S271S|FGFR2_uc010qto.1_Silent_p.S156S|FGFR2_uc001lfo.1_Silent_p.S271S|FGFR2_uc010qtp.1_Silent_p.S271S|FGFR2_uc001lfg.3_5'Flank NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 252 Extracellular (Potential). S -> W (in APRS and PS; common mutation).|S -> F (in APRS; requires 2 nucleotide substitutions).|S -> L (in CS).|SP -> FS (in PS). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.S252W(19) endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GCCGGTGAGGCGATCGCTCTG 0.562 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome TACC2 10579 broad.mit.edu 37 10 123843197 123843197 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:123843197C>T uc001lfv.2 + 4 1542 c.1182C>T c.(1180-1182)GGC>GGT p.G394G TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.G394G|TACC2_uc010qtv.1_Silent_p.G394G NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 394 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGGCAGCAGGCGGCCAGCCCG 0.592 C10orf90 118611 broad.mit.edu 37 10 128150089 128150089 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:128150089T>C uc001ljq.2 - 5 1721 c.1600A>G c.(1600-1602)ACA>GCA p.T534A C10orf90_uc001ljp.2_Missense_Mutation_p.T390A|C10orf90_uc010qum.1_Missense_Mutation_p.T631A|C10orf90_uc001ljo.2_RNA NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 534 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) GGCTCAGGTGTGGTGGGGTCC 0.542 MKI67 4288 broad.mit.edu 37 10 129903773 129903773 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:129903773T>C uc001lke.2 - 13 6526 c.6331A>G c.(6331-6333)ATG>GTG p.M2111V MKI67_uc001lkf.2_Missense_Mutation_p.M1751V|MKI67_uc009yav.1_Missense_Mutation_p.M1686V|MKI67_uc009yaw.1_Missense_Mutation_p.M1261V NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2111 16 X 122 AA approximate repeats.|10. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGAGTGTCCATTGATTCTGGT 0.498 MKI67 4288 broad.mit.edu 37 10 129904519 129904519 + Missense_Mutation SNP G G A rs138689138 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:129904519G>A uc001lke.2 - 13 5780 c.5585C>T c.(5584-5586)CCG>CTG p.P1862L MKI67_uc001lkf.2_Missense_Mutation_p.P1502L|MKI67_uc009yav.1_Missense_Mutation_p.P1437L|MKI67_uc009yaw.1_Missense_Mutation_p.P1012L NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1862 16 X 122 AA approximate repeats.|8. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTCTGATTGCGGAGATTTGCA 0.458 CYP2E1 1571 broad.mit.edu 37 10 135347279 135347279 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:135347279G>A uc001lnj.1 + 6 878 c.845G>A c.(844-846)CGC>CAC p.R282H CYP2E1_uc001lnk.1_Missense_Mutation_p.R145H|CYP2E1_uc009ybl.1_Missense_Mutation_p.R83H|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Missense_Mutation_p.R83H NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 282 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) AGTGCAGAGCGCTTGTACACA 0.562 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of FRG2B 441581 broad.mit.edu 37 10 135438851 135438851 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:135438851G>T uc010qvg.1 - 4 642 c.589C>A c.(589-591)CAG>AAG p.Q197K NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 197 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GAATGGATCTGCTGTGCCCAC 0.557 RNH1 6050 broad.mit.edu 37 11 498463 498463 + Missense_Mutation SNP G G A rs150334174 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:498463G>A uc001lpk.1 - 6 2358 c.950C>T c.(949-951)TCG>TTG p.S317L RNH1_uc001lpl.1_Missense_Mutation_p.S317L|RNH1_uc001lpm.1_Missense_Mutation_p.S317L|RNH1_uc001lpn.1_Missense_Mutation_p.S317L|RNH1_uc001lpo.1_Missense_Mutation_p.S317L|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.S317L|RNH1_uc001lpt.1_Missense_Mutation_p.S74L|RNH1_uc001lpq.1_Missense_Mutation_p.S317L|RNH1_uc001lpr.1_Missense_Mutation_p.S317L|RNH1_uc001lps.1_Missense_Mutation_p.S317L NM_203389 NP_976323 P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 317 LRR 11. mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity 0 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCACCACAGCGACTCCAGCTG 0.672 DRD4 1815 broad.mit.edu 37 11 640597 640597 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:640597C>G uc001lqp.1 + 4 1254 c.1254C>G c.(1252-1254)TGC>TGG p.C418W NM_000797 NP_000788 P21917 DRD4_HUMAN dopamine receptor D4 466 Cytoplasmic (Potential). activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding 0 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) TGCGTGCCTGCTGCTGAGCCG 0.622 MUC2 4583 broad.mit.edu 37 11 1075884 1075884 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:1075884T>C uc001lsx.1 + 2 337 c.310T>C c.(310-312)TAC>CAC p.Y104H NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 104 VWFD 1. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGACACCATCTACCTCACCCG 0.632 MUC2 4583 broad.mit.edu 37 11 1082685 1082685 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:1082685T>C uc001lsx.1 + 15 1961 c.1934T>C c.(1933-1935)ATG>ACG p.M645T NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 645 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AAGGGCGTCATGCTGTGGGGC 0.657 OR51B4 79339 broad.mit.edu 37 11 5322905 5322905 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:5322905G>A uc010qza.1 - 1 272 c.272C>T c.(271-273)GCC>GTC p.A91V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCAGCATGGGCAATCTCCCT 0.502 UBQLN3 50613 broad.mit.edu 37 11 5528897 5528897 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:5528897C>T uc001may.1 - 2 1978 c.1892G>A c.(1891-1893)CGT>CAT p.R631H HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 631 UBA. p.R631G(1) ovary(3) 3 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) ATTGGCTTCACGATTCAGAAA 0.527 UBQLN3 50613 broad.mit.edu 37 11 5529850 5529850 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:5529850T>C uc001may.1 - 2 1025 c.939A>G c.(937-939)TCA>TCG p.S313S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 313 ovary(3) 3 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) GCCTGCTACCTGAGCCTCCAT 0.507 CNGA4 1262 broad.mit.edu 37 11 6260711 6260711 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:6260711T>G uc001mco.2 + 2 267 c.160T>G c.(160-162)TGC>GGC p.C54G CNGA4_uc010raa.1_Missense_Mutation_p.C14G|CNGA4_uc001mcn.2_Missense_Mutation_p.C14G NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 54 Helical; Name=H1; (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCCTCGTGTGCAGGTATGG 0.547 SMPD1 6609 broad.mit.edu 37 11 6412983 6412983 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:6412983C>T uc001mcw.2 + 2 862 c.688C>T c.(688-690)CGC>TGC p.R230C SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.R230C|SMPD1_uc009yew.2_Missense_Mutation_p.R229C NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 228 R -> C (in NPDB).|R -> H (in NPDA/NPDB; intermediate form). cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) ACTGTGCTGCCGCCGGGGTTC 0.652 DCHS1 8642 broad.mit.edu 37 11 6646598 6646598 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:6646598C>T uc001mem.1 - 19 7387 c.6977G>A c.(6976-6978)CGC>CAC p.R2326H NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2326 Cadherin 22.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCTCCATAGCGGCCAACACT 0.602 DCHS1 8642 broad.mit.edu 37 11 6648368 6648368 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:6648368G>A uc001mem.1 - 14 6312 c.5902C>T c.(5902-5904)CGT>TGT p.R1968C NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1968 Cadherin 19.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGGGGCAGACGTAGGCGCAGA 0.607 ST5 6764 broad.mit.edu 37 11 8739392 8739392 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:8739392G>A uc001mgt.2 - 5 1711 c.1525C>T c.(1525-1527)CGA>TGA p.R509* ST5_uc009yfr.2_Nonsense_Mutation_p.R89*|ST5_uc001mgu.2_Nonsense_Mutation_p.R89*|ST5_uc001mgv.2_Nonsense_Mutation_p.R509*|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Nonsense_Mutation_p.R22* NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 509 positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CCTGCTCTTCGGCTCTTTAAG 0.522 DENND5A 23258 broad.mit.edu 37 11 9202415 9202415 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:9202415T>C uc001mhl.2 - 6 1609 c.1354A>G c.(1354-1356)ATT>GTT p.I452V DENND5A_uc010rbw.1_Missense_Mutation_p.I452V|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 452 liver(1) 1 GAGCCAGCAATGTTCCCATTC 0.527 FAR1 84188 broad.mit.edu 37 11 13750163 13750163 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:13750163C>T uc001mld.2 + 12 1545 c.1390C>T c.(1390-1392)CGG>TGG p.R464W NM_032228 NP_115604 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 464 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding ovary(1)|skin(1) 2 TTCCAGGTTGCGGAATATACG 0.333 SOX6 55553 broad.mit.edu 37 11 16340017 16340017 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:16340017C>A uc001mme.2 - 3 492 c.459G>T c.(457-459)GAG>GAT p.E153D SOX6_uc001mmd.2_Missense_Mutation_p.E143D|SOX6_uc001mmf.2_Missense_Mutation_p.E140D|SOX6_uc001mmg.2_Missense_Mutation_p.E140D|SOX6_uc001mmh.1_RNA|SOX6_uc009ygs.2_RNA|SOX6_uc001mmi.3_Missense_Mutation_p.E140D|SOX6_uc001mmj.2_Missense_Mutation_p.E140D NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 140 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 GAGTCATTTCCTCAAGCTTCT 0.448 ABCC8 6833 broad.mit.edu 37 11 17414551 17414551 + Missense_Mutation SNP C C T rs143557848 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:17414551C>T uc001mnc.2 - 39 4859 c.4733G>A c.(4732-4734)CGT>CAT p.R1578H NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1578 Cytoplasmic (By similarity).|ABC transporter 2. 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) CTTGTCTGCACGGACGAAGGA 0.552 ABCC8 6833 broad.mit.edu 37 11 17418493 17418493 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:17418493G>A uc001mnc.2 - 33 4215 c.4089C>T c.(4087-4089)CAC>CAT p.H1363H NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1363 Cytoplasmic (By similarity).|ABC transporter 2. 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) GGGCATTGACGTGCTTCAGCA 0.617 TSG101 7251 broad.mit.edu 37 11 18531139 18531139 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:18531139C>T uc001mor.2 - 5 557 c.431G>A c.(430-432)CGT>CAT p.R144H TSG101_uc001mos.1_Missense_Mutation_p.R92H|TSG101_uc009yhs.1_RNA NM_006292 NP_006283 Q99816 TS101_HUMAN tumor susceptibility gene 101 144 UEV. cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding 0 CGAAATAGGACGAGAGAAGAC 0.398 NAV2 89797 broad.mit.edu 37 11 20078096 20078096 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:20078096G>A uc010rdm.1 + 21 5282 c.4921G>A c.(4921-4923)GTG>ATG p.V1641M NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Intron|NAV2_uc001mpt.2_Intron|NAV2_uc009yhx.2_Intron|NAV2_uc009yhy.1_Intron|NAV2_uc009yhz.2_Intron|NAV2_uc001mpu.2_Intron NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1641 Ser-rich. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GAAAAGTTCTGTGGACAACTT 0.388 LGR4 55366 broad.mit.edu 37 11 27390022 27390022 + Missense_Mutation SNP C C T rs149204548 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:27390022C>T uc001mrj.3 - 18 2733 c.2248G>A c.(2248-2250)GCT>ACT p.A750T LGR4_uc001mrk.3_Missense_Mutation_p.A726T NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 750 Cytoplasmic (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 ATTAGCCAAGCGACATGCTTA 0.388 HIPK3 10114 broad.mit.edu 37 11 33308272 33308272 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:33308272G>A uc001mul.1 + 2 582 c.312G>A c.(310-312)GTG>GTA p.V104V HIPK3_uc001mum.1_Silent_p.V104V|HIPK3_uc009yjv.1_Silent_p.V104V NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 104 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 AAGCTCACGTGCAGGCACCTC 0.498 LDLRAD3 143458 broad.mit.edu 37 11 36057669 36057669 + Silent SNP C C T rs149080200 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:36057669C>T uc001mwk.1 + 2 100 c.63C>T c.(61-63)CCC>CCT p.P21P LDLRAD3_uc010rey.1_Intron|LDLRAD3_uc010rez.1_Intron NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain 21 Extracellular (Potential). integral to membrane receptor activity central_nervous_system(1) 1 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) AGCTGCTCCCCGGGAACAACT 0.592 COMMD9 29099 broad.mit.edu 37 11 36293368 36293368 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:36293368C>T uc009yki.1 - 2 c.204G>A Q9P000 COMD9_HUMAN Homo sapiens cDNA FLJ45212 fis, clone BRCAN2018667. ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) ACTGGCCTGGCTGTCAGAGCC 0.522 API5 8539 broad.mit.edu 37 11 43364043 43364043 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:43364043C>T uc010rfh.1 + 14 1731 c.1558C>T c.(1558-1560)CGG>TGG p.R520W API5_uc010rfg.1_Missense_Mutation_p.R509W|API5_uc001mxf.2_3'UTR|API5_uc010rfi.1_3'UTR NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a Error:Variant_position_missing_in_Q9BZZ5_after_alignment anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 AAATCGTAGTCGGGGAAGACT 0.473 HSD17B12 51144 broad.mit.edu 37 11 43876365 43876365 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:43876365C>A uc001mxq.3 + 10 1020 c.785C>A c.(784-786)ACA>AAA p.T262K NM_016142 NP_057226 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 262 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity 0 GCAATTAAAACAGTCGGCCTG 0.443 ACCS 84680 broad.mit.edu 37 11 44102795 44102795 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:44102795G>A uc009yks.1 + 12 1180 c.1036G>A c.(1036-1038)GTG>ATG p.V346M EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.V346M NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 346 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 GGCCACTGCCGTGGCTTCCCT 0.642 PEX16 9409 broad.mit.edu 37 11 45935754 45935754 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:45935754A>G uc001nbu.2 - 8 1007 c.695T>C c.(694-696)TTG>TCG p.L232S PEX16_uc001nbt.2_Missense_Mutation_p.L232S NM_004813 NP_004804 Q9Y5Y5 PEX16_HUMAN peroxisomal biogenesis factor 16 isoform 1 232 Interaction with PEX19.|Cytoplasmic (Potential). ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane endoplasmic reticulum membrane|integral to peroxisomal membrane protein C-terminus binding ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.223) CAGGCTGAGCACTGACGGCCA 0.652 FNBP4 23360 broad.mit.edu 37 11 47746252 47746252 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:47746252A>C uc009ylv.2 - 13 2240 c.2087T>G c.(2086-2088)CTT>CGT p.L696R FNBP4_uc001ngi.2_Missense_Mutation_p.L10R|FNBP4_uc001ngj.2_Missense_Mutation_p.L603R|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 696 ovary(1) 1 ATTTGACTGAAGGAGGGTCCA 0.323 FOLH1 2346 broad.mit.edu 37 11 49190753 49190753 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:49190753T>C uc001ngy.2 - 12 1627 c.1366A>G c.(1366-1368)ATA>GTA p.I456V FOLH1_uc001ngz.2_Missense_Mutation_p.I456V|FOLH1_uc009yly.2_Missense_Mutation_p.I441V|FOLH1_uc009ylz.2_Missense_Mutation_p.I441V|FOLH1_uc009yma.2_Missense_Mutation_p.I148V NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 456 NAALADase.|Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TCACCTTCTATAGATGAGTCA 0.343 OR10AG1 282770 broad.mit.edu 37 11 55735845 55735845 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:55735845C>T uc010rit.1 - 1 95 c.95G>A c.(94-96)TGC>TAC p.C32Y NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) GATGCCATTGCACATCAGGAT 0.328 OR8H3 390152 broad.mit.edu 37 11 55890069 55890069 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:55890069A>C uc001nii.1 + 1 221 c.221A>C c.(220-222)TAC>TCC p.Y74S NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) GACCTCAGTTACTCAACTGTC 0.448 OR5J2 282775 broad.mit.edu 37 11 55944465 55944465 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:55944465G>T uc010rjb.1 + 1 372 c.372G>T c.(370-372)GTG>GTT p.V124V NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) ACCGCTATGTGGCCATTGTGA 0.443 P2RX3 5024 broad.mit.edu 37 11 57115716 57115716 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:57115716C>T uc001nju.2 + 5 540 c.464C>T c.(463-465)ACG>ATG p.T155M NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 155 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 TGGTGCCCCACGGAGGTGGAC 0.627 OR10W1 81341 broad.mit.edu 37 11 58035201 58035201 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:58035201T>C uc001nmq.1 - 1 532 c.130A>G c.(130-132)ACC>GCC p.T44A NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 44 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) CATAGACAGGTTTCTGTGTGA 0.488 TMEM132A 54972 broad.mit.edu 37 11 60704345 60704345 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:60704345G>A uc001nqj.2 + 11 3231 c.3038G>A c.(3037-3039)CGC>CAC p.R1013H TMEM132A_uc001nqi.2_Missense_Mutation_p.R1014H|TMEM132A_uc001nqm.2_Missense_Mutation_p.R223H NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 1013 Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 GAGGAGCTTCGCAACTACATG 0.647 C11orf66 220004 broad.mit.edu 37 11 61257273 61257273 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:61257273A>G uc001nru.1 + 12 1188 c.1063A>G c.(1063-1065)AAG>GAG p.K355E C11orf66_uc009ynq.1_Missense_Mutation_p.K335E NM_145017 NP_659454 Q7Z5V6 CK066_HUMAN IIIG9 protein 355 ovary(1) 1 GAACATCCCCAAGGGTCTAGA 0.637 DAGLA 747 broad.mit.edu 37 11 61504660 61504660 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:61504660G>A uc001nsa.2 + 14 1489 c.1378G>A c.(1378-1380)GGA>AGA p.G460R NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 460 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) CCAGGGCCGCGGAACCAAACA 0.632 AHNAK 79026 broad.mit.edu 37 11 62287437 62287437 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:62287437C>T uc001ntl.2 - 5 14752 c.14452G>A c.(14452-14454)GTT>ATT p.V4818I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4818 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGAATATCAACGTCCACCTTG 0.493 LRRN4CL 221091 broad.mit.edu 37 11 62455710 62455710 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:62455710C>A uc001nun.2 - 2 578 c.271G>T c.(271-273)GTG>TTG p.V91L NM_203422 NP_981967 Q8ND94 LRN4L_HUMAN LRRN4 C-terminal like precursor 91 Fibronectin type-III.|Extracellular (Potential). integral to membrane 0 GCAATGCGCACTTCTCCCATG 0.721 HNRNPUL2 221092 broad.mit.edu 37 11 62483058 62483058 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:62483058G>A uc001nuw.2 - 13 2270 c.2077C>T c.(2077-2079)CGA>TGA p.R693* HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 693 Tyr-rich. cell killing nucleus ATP binding|nucleic acid binding 0 CCCCTGTATCGATCATAGAAA 0.418 SLC22A6 9356 broad.mit.edu 37 11 62744711 62744711 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:62744711G>A uc001nwk.2 - 9 1817 c.1510C>T c.(1510-1512)CTG>TTG p.L504L SLC22A6_uc001nwl.2_Silent_p.L460L|SLC22A6_uc001nwj.2_Silent_p.L504L|SLC22A6_uc001nwm.2_Silent_p.L460L NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 504 Helical; (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 GTCTCTGGCAGGAGGACAGTG 0.542 MARK2 2011 broad.mit.edu 37 11 63666286 63666286 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:63666286C>T uc001nxw.2 + 6 1034 c.455C>T c.(454-456)GCT>GTT p.A152V MARK2_uc001nxx.2_Missense_Mutation_p.A152V|MARK2_uc001nxy.2_Missense_Mutation_p.A152V|MARK2_uc001nxv.3_Missense_Mutation_p.A152V|MARK2_uc001nxz.3_Missense_Mutation_p.A119V|MARK2_uc009yoy.2_Missense_Mutation_p.A119V NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 152 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 GAAAAAGAGGCTCGAGCCAAA 0.517 MARK2 2011 broad.mit.edu 37 11 63669730 63669730 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:63669730G>A uc001nxw.2 + 12 1741 c.1162G>A c.(1162-1164)GCC>ACC p.A388T MARK2_uc001nxx.2_Missense_Mutation_p.A388T|MARK2_uc001nxy.2_Missense_Mutation_p.A388T|MARK2_uc001nxv.3_Missense_Mutation_p.A388T|MARK2_uc001nxz.3_Missense_Mutation_p.A355T|MARK2_uc009yoy.2_Missense_Mutation_p.A355T NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 388 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CAATAGCAGCGCCCCATCCCC 0.572 OREG0021038 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MACROD1 28992 broad.mit.edu 37 11 63782731 63782731 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:63782731G>A uc001nyh.2 - 4 659 c.540C>T c.(538-540)GGC>GGT p.G180G NM_014067 NP_054786 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 180 Macro. 0 CACCGCCACCGCCTCCGAGCA 0.657 GPR137 56834 broad.mit.edu 37 11 64054328 64054328 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:64054328C>T uc001nzg.1 + 2 640 c.332C>T c.(331-333)ACG>ATG p.T111M BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.T117M|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.T169M|GPR137_uc001nze.1_Missense_Mutation_p.T111M|GPR137_uc001nzf.2_Missense_Mutation_p.T111M|GPR137_uc001nzh.1_Missense_Mutation_p.T111M|GPR137_uc001nzi.2_Missense_Mutation_p.T111M|GPR137_uc010rnj.1_Missense_Mutation_p.T111M NM_020155 NP_064540 Q96N19 G137A_HUMAN G protein-coupled receptor 137 111 Cytoplasmic (Potential). integral to membrane central_nervous_system(1) 1 TTCACCTTGACGCTTATGAAC 0.607 CDC42BPG 55561 broad.mit.edu 37 11 64604405 64604405 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:64604405C>A uc001obs.3 - 10 1292 c.1292G>T c.(1291-1293)AGG>ATG p.R431M NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 431 Potential. 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 TTGGTGCTTCCTGCTCAGCTC 0.652 ATG2A 23130 broad.mit.edu 37 11 64677365 64677365 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:64677365G>A uc001obx.2 - 14 2010 c.1895C>T c.(1894-1896)ACG>ATG p.T632M NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 632 protein binding ovary(1)|central_nervous_system(1) 2 CCGAAATACCGTCTGCTGCTC 0.711 NAALADL1 10004 broad.mit.edu 37 11 64825848 64825848 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:64825848A>G uc001ocn.2 - 1 162 c.146T>C c.(145-147)ATG>ACG p.M49T NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 49 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 CAGCTGCCCCATGACGGTCTC 0.632 CD248 57124 broad.mit.edu 37 11 66083272 66083272 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:66083272G>T uc001ohm.1 - 1 1244 c.1227C>A c.(1225-1227)GCC>GCA p.A409A NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 409 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) TCGGTCTATAGGCCAGGGCAA 0.637 PELI3 246330 broad.mit.edu 37 11 66238785 66238785 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:66238785C>T uc001oic.3 + 4 461 c.297C>T c.(295-297)CAC>CAT p.H99H PELI3_uc001oib.2_Silent_p.H99H|PELI3_uc001oid.3_Silent_p.H75H|PELI3_uc001oie.3_Translation_Start_Site|PELI3_uc010rpd.1_5'Flank NM_145065 NP_659502 Q8N2H9 PELI3_HUMAN pellino 3 alpha isoform 1 99 cytosol protein binding ovary(1) 1 GCCGGTCGCACGCCAACGGGG 0.632 CCS 9973 broad.mit.edu 37 11 66373260 66373260 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:66373260G>T uc001oir.2 + 8 802 c.759G>T c.(757-759)GAG>GAT p.E253D CCS_uc001ois.2_RNA NM_005125 NP_005116 O14618 CCS_HUMAN copper chaperone for superoxide dismutase 253 intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding 0 CCATCTGGGAGGAGCGAGGCC 0.622 ANKRD13D 338692 broad.mit.edu 37 11 67069033 67069033 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:67069033C>T uc001okc.1 + 14 1673 c.1162C>T c.(1162-1164)CGC>TGC p.R388C ANKRD13D_uc001okd.1_Missense_Mutation_p.R475C|ANKRD13D_uc001oke.1_Missense_Mutation_p.R388C|ANKRD13D_uc001okg.1_Missense_Mutation_p.R171C|ANKRD13D_uc001okh.1_Missense_Mutation_p.R171C|ANKRD13D_uc001oki.1_Missense_Mutation_p.R125C|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 388 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGGCATGGAGCGCAACGAGCC 0.662 SSH3 54961 broad.mit.edu 37 11 67075730 67075730 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:67075730C>T uc001okj.2 + 9 1149 c.971C>T c.(970-972)GCA>GTA p.A324V SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.A178V NM_017857 NP_060327 Q8TE77 SSH3_HUMAN slingshot homolog 3 324 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CTGCTGGTGGCACAGCGGGAC 0.682 PITPNM1 9600 broad.mit.edu 37 11 67267200 67267200 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:67267200T>C uc001olx.2 - 7 1354 c.1165A>G c.(1165-1167)ACG>GCG p.T389A PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.T389A|PITPNM1_uc001olz.2_Missense_Mutation_p.T389A NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 389 T->A: No detectable effect on phosphorylation; when associated with A- 793 and A-1222. Strongly reduced phosphorylation; when associated with A- 287. Loss of threonine phosphorylation; when associated with A-287; A-794 and A- 1222. 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 p.T389M(1) lung(2)|central_nervous_system(1) 3 TTACCTGGCGTTCCCTCTGCC 0.542 TPCN2 219931 broad.mit.edu 37 11 68840103 68840103 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:68840103T>C uc001oos.2 + 12 1186 c.1070T>C c.(1069-1071)GTG>GCG p.V357A TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Missense_Mutation_p.V272A|TPCN2_uc010rqg.1_Missense_Mutation_p.V357A|TPCN2_uc001oot.2_5'Flank NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 357 Cytoplasmic (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) AGAGTTGGGGTGAAGCCCCAG 0.637 ORAOV1 220064 broad.mit.edu 37 11 69488006 69488006 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:69488006T>C uc001opc.2 - 2 292 c.134A>G c.(133-135)CAT>CGT p.H45R ORAOV1_uc010rqi.1_Missense_Mutation_p.H45R|ORAOV1_uc009ysm.2_RNA|ORAOV1_uc001opd.2_Intron|ORAOV1_uc001ope.1_Missense_Mutation_p.H45R NM_153451 NP_703152 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 45 0 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) TTTGGCTCCATGCAGCGTGCC 0.468 SHANK2 22941 broad.mit.edu 37 11 70333142 70333142 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:70333142C>T uc001oqc.2 - 21 3334 c.3256G>A c.(3256-3258)GTC>ATC p.V1086I SHANK2_uc010rqn.1_Missense_Mutation_p.V498I|SHANK2_uc001opz.2_Missense_Mutation_p.V491I|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 707 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CGGTCGCGGACGGCTCCGGCG 0.711 SERPINH1 871 broad.mit.edu 37 11 75282937 75282937 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:75282937G>A uc001owr.2 + 5 1295 c.1066G>A c.(1066-1068)GCC>ACC p.A356T SERPINH1_uc009yug.2_Missense_Mutation_p.A356T|SERPINH1_uc001ows.2_Missense_Mutation_p.A356T|SERPINH1_uc001owt.2_Missense_Mutation_p.A139T NM_001235 NP_001226 P50454 SERPH_HUMAN serine (or cysteine) proteinase inhibitor, clade 356 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity ovary(2) 2 Ovarian(111;0.11) CCACGCCACCGCCTTTGAGTT 0.602 MAP6 4135 broad.mit.edu 37 11 75298694 75298694 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:75298694C>A uc001owu.2 - 4 1917 c.1852G>T c.(1852-1854)GGT>TGT p.G618C NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 618 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) ACTATGGGACCTTCACCCTTG 0.537 ODZ4 26011 broad.mit.edu 37 11 78440583 78440583 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:78440583G>A uc001ozl.3 - 22 3707 c.3244C>T c.(3244-3246)CCG>TCG p.P1082S NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1082 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GGGATGGTCGGGTGGGTGAGG 0.582 RAB38 23682 broad.mit.edu 37 11 87883091 87883091 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:87883091A>G uc001pcj.1 - 2 282 c.235T>C c.(235-237)TAT>CAT p.Y79H NM_022337 NP_071732 P57729 RAB38_HUMAN RAB38 79 protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCTCGGTAATAGACCCTCGTC 0.358 CTSC 1075 broad.mit.edu 37 11 88027300 88027300 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:88027300G>A uc001pck.3 - 7 1367 c.1266C>T c.(1264-1266)TAC>TAT p.Y422Y CTSC_uc001pcl.3_Silent_p.Y274Y NM_001814 NP_001805 P53634 CATC_HUMAN cathepsin C isoform a preproprotein 422 immune response lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TAACAATCCAGTAATCCATCC 0.517 FAT3 120114 broad.mit.edu 37 11 92532253 92532253 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:92532253A>C uc001pdj.3 + 9 6091 c.6074A>C c.(6073-6075)AAG>ACG p.K2025T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2025 Extracellular (Potential).|Cadherin 18. 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) CCAGGAAATAAGTTCAAGATA 0.423 TCGA Ovarian(4;0.039) FAT3 120114 broad.mit.edu 37 11 92577560 92577560 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:92577560C>T uc001pdj.3 + 18 11044 c.11027C>T c.(11026-11028)GCA>GTA p.A3676V FAT3_uc001pdi.3_Missense_Mutation_p.A116V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3676 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) CTGCGGAATGCAGTCCTCACC 0.592 TCGA Ovarian(4;0.039) MRE11A 4361 broad.mit.edu 37 11 94180539 94180539 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:94180539A>G uc001peu.2 - 15 1818 c.1629T>C c.(1627-1629)GAT>GAC p.D543D MRE11A_uc001pev.2_Silent_p.D543D|MRE11A_uc009ywj.2_Silent_p.D546D NM_005591 NP_005582 P49959 MRE11_HUMAN meiotic recombination 11 homolog A isoform 1 543 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(4)|lung(1) 5 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) TCATAAGGTCATCAGCACTAA 0.473 Homologous_recombination Ataxia-Telangiectasia-Like_Disorder DYNC2H1 79659 broad.mit.edu 37 11 102992131 102992131 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:102992131G>A uc001pho.2 + 10 1535 c.1391G>A c.(1390-1392)CGA>CAA p.R464Q DYNC2H1_uc001phn.1_Missense_Mutation_p.R464Q|DYNC2H1_uc009yxe.1_Missense_Mutation_p.R464Q NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 464 Stem (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) AATCGGTGCCGAGGAATTCCT 0.353 DYNC2H1 79659 broad.mit.edu 37 11 103041640 103041640 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:103041640G>A uc001pho.2 + 34 5321 c.5177G>A c.(5176-5178)CGA>CAA p.R1726Q DYNC2H1_uc001phn.1_Missense_Mutation_p.R1726Q|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1726 AAA 1 (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) TCAATGGGACGAATATTTGTT 0.318 NPAT 4863 broad.mit.edu 37 11 108040522 108040522 + Missense_Mutation SNP C C T rs62642487 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:108040522C>T uc001pjz.3 - 15 3061 c.2959G>A c.(2959-2961)GTC>ATC p.V987I NPAT_uc010rvv.1_Missense_Mutation_p.V43I NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 987 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TTTGGAGGGACGGGGAATTGA 0.368 ATM 472 broad.mit.edu 37 11 108160489 108160489 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:108160489G>A uc001pkb.1 + 29 4782 c.4397G>A c.(4396-4398)CGA>CAA p.R1466Q ATM_uc009yxr.1_Missense_Mutation_p.R1466Q|ATM_uc001pkd.3_Missense_Mutation_p.R118Q|ATM_uc001pke.1_Missense_Mutation_p.R118Q|ATM_uc010rvw.1_Missense_Mutation_p.R118Q|ATM_uc001pkf.2_Missense_Mutation_p.R118Q NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1466 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTTGTTCTTCGAGACGTTATT 0.308 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) KDELC2 143888 broad.mit.edu 37 11 108351905 108351905 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:108351905A>G uc001pkj.2 - 5 1164 c.1098_splice c.e5+1 p.K366_splice KDELC2_uc001pki.2_Splice_Site_p.K310_splice NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 precursor endoplasmic reticulum lumen ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) TCAAATGCATACCTTAAAGAA 0.363 NCAM1 4684 broad.mit.edu 37 11 113126681 113126681 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:113126681C>T uc001pns.2 + 1 83 c.51C>T c.(49-51)GAC>GAT p.D17D P13591 NCAM1_HUMAN SubName: Full=cDNA FLJ52974, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform; 637 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AGCAGGATGACGGCGGCTCCC 0.552 TTC12 54970 broad.mit.edu 37 11 113196305 113196305 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:113196305C>T uc001pnu.2 + 6 487 c.382C>T c.(382-384)CGC>TGC p.R128C TTC12_uc001pnv.2_Missense_Mutation_p.R128C|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_5'UTR NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 128 TPR 1. binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) AGCTATCCTGCGCTACAGTGA 0.478 MLL 4297 broad.mit.edu 37 11 118375926 118375926 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:118375926T>C uc001pta.2 + 27 9333 c.9310T>C c.(9310-9312)TTG>CTG p.L3104L MLL_uc001ptb.2_Silent_p.L3107L NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3104 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AAAAATCCAATTGACCTCTTC 0.453 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL MLL 4297 broad.mit.edu 37 11 118379858 118379858 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:118379858G>A uc001pta.2 + 29 10857 c.10834G>A c.(10834-10836)GCT>ACT p.A3612T MLL_uc001ptb.2_Missense_Mutation_p.A3615T NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3612 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TAGGCAAGTCGCTGTTCTTCC 0.328 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL IFT46 56912 broad.mit.edu 37 11 118427698 118427698 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:118427698A>G uc001ptp.1 - 4 486 c.108T>C c.(106-108)GAT>GAC p.D36D IFT46_uc001pto.1_Silent_p.D87D|IFT46_uc009zaf.1_Silent_p.D87D NM_020153 NP_064538 Q9NQC8 IFT46_HUMAN IFT46 36 Asp/Glu-rich (highly acidic). flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding 0 catcatcatcatcgtcatcct 0.408 PDZD3 79849 broad.mit.edu 37 11 119057184 119057184 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:119057184C>T uc001pwb.2 + 2 837 c.313C>T c.(313-315)CCA>TCA p.P105S PDZD3_uc001pvy.2_Intron|PDZD3_uc001pvz.2_Intron|PDZD3_uc010rzd.1_Intron|PDZD3_uc001pwa.2_Intron Q86UT5 NHRF4_HUMAN RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4; Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4; 105 cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1) 1 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) ACCTCACCCTCCAGATCCCTG 0.627 ARHGEF12 23365 broad.mit.edu 37 11 120298860 120298860 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:120298860G>A uc001pxl.1 + 8 496 c.489G>A c.(487-489)CCG>CCA p.P163P ARHGEF12_uc009zat.2_Silent_p.P144P|ARHGEF12_uc010rzn.1_Silent_p.P60P|ARHGEF12_uc009zau.1_Silent_p.P60P NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 163 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) AAGTAGAGCCGTCAGTCATTG 0.542 T MLL AML TECTA 7007 broad.mit.edu 37 11 121037453 121037453 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:121037453C>A uc010rzo.1 + 17 5550 c.5550C>A c.(5548-5550)ATC>ATA p.I1850I NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1850 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCTTTCAGATCAACAACACCA 0.507 SORL1 6653 broad.mit.edu 37 11 121460806 121460806 + Missense_Mutation SNP G G A rs148551848 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:121460806G>A uc001pxx.2 + 30 4216 c.4136G>A c.(4135-4137)GGC>GAC p.G1379D SORL1_uc010rzp.1_Missense_Mutation_p.G225D|SORL1_uc010rzq.1_5'Flank NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1379 Extracellular (Potential).|LDL-receptor class A 8. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGTGAGAATGGCCACTGCATC 0.547 UBASH3B 84959 broad.mit.edu 37 11 122659877 122659877 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:122659877A>G uc001pyi.3 + 6 1201 c.841A>G c.(841-843)ATC>GTC p.I281V NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing, 281 SH3. cytoplasm|nucleus protein tyrosine phosphatase activity central_nervous_system(1) 1 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) CGGGGACTTCATCTTCATGTC 0.542 ASAM 79827 broad.mit.edu 37 11 122944466 122944466 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:122944466G>C uc001pyt.2 - 7 1197 c.838C>G c.(838-840)CCA>GCA p.P280A NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN adipocyte-specific adhesion molecule precursor 280 Cytoplasmic (Potential). integral to membrane|tight junction 0 Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) CGGGCTTTTGGAGCTTCAGCA 0.498 ZNF202 7753 broad.mit.edu 37 11 123597620 123597620 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:123597620T>C uc001pzd.1 - 9 1432 c.1032A>G c.(1030-1032)GGA>GGG p.G344G ZNF202_uc001pzc.1_Silent_p.G120G|ZNF202_uc001pze.1_Silent_p.G344G|ZNF202_uc001pzf.1_Silent_p.G344G NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 344 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TTTCTGGTTCTCCCAAAACAG 0.418 ESAM 90952 broad.mit.edu 37 11 124626554 124626554 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:124626554G>A uc001qav.3 - 3 507 c.334C>T c.(334-336)CGG>TGG p.R112W ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Missense_Mutation_p.R39W|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.R112W NM_138961 NP_620411 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule precursor 112 Extracellular (Potential).|Ig-like V-type. blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) CCCTCCAGCCGCAGGGACAGG 0.542 ROBO3 64221 broad.mit.edu 37 11 124749423 124749423 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:124749423C>T uc001qbc.2 + 25 3940 c.3748C>T c.(3748-3750)CGG>TGG p.R1250W ROBO3_uc001qbd.2_Missense_Mutation_p.R175W|ROBO3_uc010sar.1_Missense_Mutation_p.R299W|ROBO3_uc001qbe.2_Missense_Mutation_p.R175W|ROBO3_uc001qbf.1_Missense_Mutation_p.R134W NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 1250 Cytoplasmic (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGCTCGATTCCGGAAGAAACC 0.607 STT3A 3703 broad.mit.edu 37 11 125472242 125472242 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:125472242T>C uc001qcd.2 + 4 304 c.194T>C c.(193-195)TTT>TCT p.F65S STT3A_uc009zbm.2_Missense_Mutation_p.F65S|STT3A_uc001qce.2_Missense_Mutation_p.F65S|STT3A_uc010sbg.1_5'UTR NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 65 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) GAGGAGGGGTTTTATAAATTC 0.413 GLB1L2 89944 broad.mit.edu 37 11 134238664 134238664 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:134238664T>C uc001qhp.2 + 10 1204 c.1016T>C c.(1015-1017)GTC>GCC p.V339A GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 339 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) AAGTCAGATGTCACCAGCTAT 0.547 WNT5B 81029 broad.mit.edu 37 12 1748923 1748923 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:1748923C>T uc009zdq.2 + 4 644 c.402C>T c.(400-402)CGC>CGT p.R134R WNT5B_uc001qjj.2_Silent_p.R134R|WNT5B_uc001qjk.2_Silent_p.R134R|WNT5B_uc001qjl.2_Silent_p.R134R NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, 134 R -> S (in Ref. 1; AAG38659). angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) GGGCCTGCCGCGAGGGCGAGC 0.731 CACNA2D4 93589 broad.mit.edu 37 12 1983828 1983828 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:1983828A>G uc001qjp.2 - 18 2051 c.1820T>C c.(1819-1821)ATG>ACG p.M607T CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 607 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCTATTGATCATGGCTGTTCT 0.483 KCNA1 3736 broad.mit.edu 37 12 5021148 5021148 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:5021148G>A uc001qnh.2 + 2 1709 c.604G>A c.(604-606)GTC>ATC p.V202I NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 202 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CACGGGCACCGTCCACCGCAT 0.532 ANO2 57101 broad.mit.edu 37 12 5721879 5721879 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:5721879C>T uc001qnm.2 - 20 2102 c.2030G>A c.(2029-2031)AGC>AAC p.S677N NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 682 Extracellular (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CATGATGATGCTGAGCTGAAT 0.507 VWF 7450 broad.mit.edu 37 12 6092336 6092336 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:6092336C>T uc001qnn.1 - 41 7311 c.7061G>A c.(7060-7062)TGC>TAC p.C2354Y VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2354 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GTTGGGTCTGCACTCGCCAGG 0.622 C12orf53 196500 broad.mit.edu 37 12 6806618 6806618 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:6806618G>A uc001qqf.1 - 3 434 c.358C>T c.(358-360)CCC>TCC p.P120S C12orf53_uc001qqg.1_Missense_Mutation_p.P120S NM_153685 NP_710152 Q8IYJ0 CL053_HUMAN hypothetical protein LOC196500 precursor 120 Extracellular (Potential). integral to membrane 0 GCAGAGTTGGGGTCCCCTCCA 0.617 CLSTN3 9746 broad.mit.edu 37 12 7293944 7293944 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:7293944G>A uc001qsr.2 + 9 1708 c.1430G>A c.(1429-1431)GGC>GAC p.G477D CLSTN3_uc001qss.2_Missense_Mutation_p.G489D NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 477 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 CATGACAATGGCCTCATCCAC 0.562 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GDF3 9573 broad.mit.edu 37 12 7842986 7842986 + Missense_Mutation SNP G G A rs112895783 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:7842986G>A uc001qte.2 - 2 619 c.583C>T c.(583-585)CGG>TGG p.R195W NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 195 R -> Q (in MCOP7). eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 AAATTTTTCCGGGGGTTGTCA 0.473 CLEC1A 51267 broad.mit.edu 37 12 10225945 10225945 + Silent SNP A A C rs34926270 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:10225945A>C uc001qxb.2 - 5 693 c.609T>G c.(607-609)CCT>CCG p.P203P CLEC1A_uc009zhf.2_Silent_p.P115P|CLEC1A_uc001qxc.2_Silent_p.P115P|CLEC1A_uc001qxd.2_Silent_p.P160P|CLEC1A_uc010sgx.1_Silent_p.P101P NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 203 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 TGCCACTGTCAGGGCGCAAAA 0.443 TAS2R30 259293 broad.mit.edu 37 12 11286356 11286356 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:11286356G>C uc009zhs.1 - 1 488 c.488C>G c.(487-489)ACT>AGT p.T163S PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_001097643 NP_001091112 type 2 taste receptor member 30 0 GATCTTCCAAGTCACGTTTCC 0.393 DUSP16 80824 broad.mit.edu 37 12 12629784 12629784 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:12629784T>G uc001rao.1 - 7 2613 c.1981A>C c.(1981-1983)ATC>CTC p.I661L DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.I513L NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 661 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) ACCTCAATGATTTCCATGCTG 0.403 PLBD1 79887 broad.mit.edu 37 12 14706188 14706188 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:14706188T>G uc001rcc.1 - 2 435 c.274A>C c.(274-276)ACC>CCC p.T92P NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 92 lipid catabolic process extracellular region hydrolase activity 0 TTGCTCAGGGTTTGAGAGCCA 0.507 GUCY2C 2984 broad.mit.edu 37 12 14781623 14781623 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:14781623G>A uc001rcd.2 - 20 2343 c.2206C>T c.(2206-2208)CCA>TCA p.P736S NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 736 Cytoplasmic (Potential).|Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TTGAAATCTGGTCTCTTTTCT 0.328 GUCY2C 2984 broad.mit.edu 37 12 14794028 14794028 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:14794028G>A uc001rcd.2 - 18 2193 c.2056C>T c.(2056-2058)CGG>TGG p.R686W NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 686 Cytoplasmic (Potential).|Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TTCCGGTCCCGACAGCTCAAA 0.502 KIAA0528 9847 broad.mit.edu 37 12 22624384 22624384 + Nonsense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:22624384G>T uc001rfq.2 - 20 2535 c.2307C>A c.(2305-2307)TGC>TGA p.C769* KIAA0528_uc010sir.1_Nonsense_Mutation_p.C584*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.C769*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.C771*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.C769*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.C760* NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 769 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 CATGGCAAAGGCAGCAGGGGA 0.284 ITPR2 3709 broad.mit.edu 37 12 26572039 26572039 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:26572039C>T uc001rhg.2 - 50 7470 c.7053G>A c.(7051-7053)GCG>GCA p.A2351A ITPR2_uc009zjg.1_Silent_p.A502A NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2351 Extracellular (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CCAGGACATACGCCACGTGAT 0.448 KLHDC5 57542 broad.mit.edu 37 12 27950767 27950767 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:27950767G>A uc001rij.2 + 3 1263 c.1186G>A c.(1186-1188)GTG>ATG p.V396M KLHDC5_uc009zjj.2_RNA NM_020782 NP_065833 Q9P2K6 KLDC5_HUMAN kelch domain containing 5 396 Kelch 5. ovary(1)|central_nervous_system(1) 2 Lung SC(9;0.0873) CATCTACATCGTGGGGGGGTG 0.597 PTHLH 5744 broad.mit.edu 37 12 28122392 28122392 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:28122392C>T uc001rik.2 - 2 339 c.36G>A c.(34-36)GCG>GCA p.A12A PTHLH_uc001ril.2_Silent_p.A12A|PTHLH_uc001rim.2_Silent_p.A12A|PTHLH_uc001rin.2_Silent_p.A12A NM_198966 NP_945317 P12272 PTHR_HUMAN parathyroid hormone-like hormone isoform 1 12 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1) 1 Lung SC(9;0.184) GCAGGAACACCGCGACGCTCC 0.677 IPO8 10526 broad.mit.edu 37 12 30784848 30784848 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:30784848C>T uc001rjd.2 - 24 3167 c.2997G>A c.(2995-2997)GAG>GAA p.E999E IPO8_uc001rje.1_Silent_p.E488E|IPO8_uc010sjt.1_Silent_p.E794E NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 999 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCCGTCGGTGCTCTGCCAGTG 0.587 LRRK2 120892 broad.mit.edu 37 12 40717061 40717061 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:40717061T>C uc001rmg.3 + 38 5730 c.5609T>C c.(5608-5610)TTG>TCG p.L1870S LRRK2_uc009zjw.2_Missense_Mutation_p.L708S|LRRK2_uc001rmi.2_Missense_Mutation_p.L703S NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1870 L -> F. 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) AATATTATGTTGAATAATGAT 0.353 NELL2 4753 broad.mit.edu 37 12 45269072 45269072 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:45269072C>T uc001rog.2 - 2 715 c.120G>A c.(118-120)GAG>GAA p.E40E NELL2_uc001rof.3_Silent_p.E39E|NELL2_uc001roh.2_Silent_p.E40E|NELL2_uc009zkd.2_Silent_p.E39E|NELL2_uc010skz.1_Silent_p.E90E|NELL2_uc010sla.1_Silent_p.E63E|NELL2_uc001roi.1_Silent_p.E40E|NELL2_uc010slb.1_Silent_p.E39E|NELL2_uc001roj.2_Silent_p.E40E NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 40 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) CGGTCGTGGACTCCCCAAGTT 0.547 SENP1 29843 broad.mit.edu 37 12 48477525 48477525 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:48477525G>A uc001rqx.2 - 6 847 c.401C>T c.(400-402)GCG>GTG p.A134V SENP1_uc001rqw.2_Missense_Mutation_p.A134V|SENP1_uc001rqy.2_5'UTR|SENP1_uc001rqz.2_5'UTR|SENP1_uc009zkx.2_Missense_Mutation_p.A134V NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 134 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TGACTTTCCCGCAAAACTGTT 0.333 MLL2 8085 broad.mit.edu 37 12 49445038 49445038 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:49445038T>C uc001rta.3 - 10 2428 c.2428A>G c.(2428-2430)ACT>GCT p.T810A NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 810 Pro-rich. Missing (in Ref. 1; AAC51734). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGCTCCTCAGTCTGGGGGGAC 0.632 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) KCNH3 23416 broad.mit.edu 37 12 49948198 49948198 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:49948198C>T uc001ruh.1 + 11 2257 c.1997C>T c.(1996-1998)ACG>ATG p.T666M KCNH3_uc010smj.1_Missense_Mutation_p.T606M NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 666 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 AAGGGGCTGACGTACTGCGTC 0.662 AQP6 363 broad.mit.edu 37 12 50369275 50369275 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:50369275G>A uc001rvr.1 + 4 1007 c.670G>A c.(670-672)GCC>ACC p.A224T AQP6_uc001rvp.1_Missense_Mutation_p.A50T|AQP6_uc001rvq.1_RNA NM_001652 NP_001643 Q13520 AQP6_HUMAN aquaporin 6 224 Helical; (Potential). excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity 0 CCTGATGGGAGCCCTCCTGGC 0.642 DIP2B 57609 broad.mit.edu 37 12 51054033 51054033 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:51054033G>A uc001rwv.2 + 4 514 c.358G>A c.(358-360)GCT>ACT p.A120T DIP2B_uc001rwu.2_Missense_Mutation_p.A120T|DIP2B_uc009zls.1_Missense_Mutation_p.A2T NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 120 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 ACAGAAGATGGCTTTGCCCAT 0.453 KRT73 319101 broad.mit.edu 37 12 53009982 53009982 + Silent SNP G G A rs116369374 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:53009982G>A uc001sas.2 - 2 665 c.630C>T c.(628-630)AGC>AGT p.S210S NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 210 Coil 1B.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CTTCGCGCACGCTCCTCAGCT 0.622 KRT3 3850 broad.mit.edu 37 12 53189265 53189265 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:53189265C>T uc001say.2 - 1 628 c.562G>A c.(562-564)GAC>AAC p.D188N NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 188 Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 ATCTGGGGGTCGATCTCCACA 0.537 TENC1 23371 broad.mit.edu 37 12 53448186 53448186 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:53448186G>A uc001sbp.2 + 7 618 c.483G>A c.(481-483)CTG>CTA p.L161L uc001sbk.1_RNA|TENC1_uc001sbl.2_Silent_p.L37L|TENC1_uc001sbm.2_Silent_p.L171L|TENC1_uc001sbn.2_Silent_p.L171L|TENC1_uc001sbo.1_Silent_p.L161L NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 161 Phosphatase tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 TGCGCGAGCTGGCCCATGTGC 0.672 ITGB7 3695 broad.mit.edu 37 12 53586138 53586138 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:53586138C>T uc009zmv.2 - 13 2202 c.2131G>A c.(2131-2133)GTG>ATG p.V711M ITGB7_uc001scc.2_Missense_Mutation_p.V711M|ITGB7_uc010snz.1_RNA NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor 711 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 ACTCTGAGCACGACCGTGCCT 0.562 ESPL1 9700 broad.mit.edu 37 12 53679949 53679949 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:53679949A>G uc001sck.2 + 18 3520 c.3429A>G c.(3427-3429)TCA>TCG p.S1143S ESPL1_uc001scj.2_Silent_p.S818S|ESPL1_uc010soe.1_Intron NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1143 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 TGTCCCATTCACCCACCTGTG 0.617 AMHR2 269 broad.mit.edu 37 12 53818998 53818998 + Silent SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:53818998C>G uc001scx.1 + 4 552 c.474C>G c.(472-474)CTC>CTG p.L158L AMHR2_uc009zmy.1_Silent_p.L158L NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 158 Helical; (Potential). Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) TCCTCCTCCTCCTGCTGCTGC 0.582 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) HOXC13 3229 broad.mit.edu 37 12 54338951 54338951 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:54338951C>T uc001sei.2 + 2 1019 c.904C>T c.(904-906)CGC>TGC p.R302C HOXC13_uc010sop.1_RNA NM_017410 NP_059106 P31276 HXC13_HUMAN homeobox C13 302 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 CCTCTCTGAGCGCCAGGTAAC 0.572 T NUP98 AML HOXC10 3226 broad.mit.edu 37 12 54379398 54379398 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:54379398C>T uc001sen.2 + 1 453 c.355C>T c.(355-357)CGG>TGG p.R119W NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 119 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 CGCAGAGAAGCGGGCGAAAAG 0.627 HOXC5 3222 broad.mit.edu 37 12 54427288 54427288 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:54427288C>T uc001sew.2 + 1 457 c.382C>T c.(382-384)CCC>TCC p.P128S HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank NM_018953 NP_061826 Q00444 HXC5_HUMAN homeobox C5 128 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GACAGGGCAGCCCGCCGGACT 0.617 HOXC5 3222 broad.mit.edu 37 12 54428259 54428259 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:54428259A>G uc001sew.2 + 2 727 c.652A>G c.(652-654)AGC>GGC p.S218G HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron NM_018953 NP_061826 Q00444 HXC5_HUMAN homeobox C5 218 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CAAAATGAAAAGCAAAGAGGC 0.522 SMUG1 23583 broad.mit.edu 37 12 54576034 54576034 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:54576034C>T uc001sff.1 - 4 788 c.659G>A c.(658-660)CGG>CAG p.R220Q SMUG1_uc001sfa.1_RNA|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.R220Q|SMUG1_uc009znf.1_Missense_Mutation_p.R220Q|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron NM_014311 NP_055126 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional 220 depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity 0 CCGTCGTGCCCGCTGCTCTGC 0.667 BER_DNA_glycosylases SLC39A5 283375 broad.mit.edu 37 12 56629008 56629008 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:56629008G>A uc010sqj.1 + 7 959 c.702G>A c.(700-702)CTG>CTA p.L234L SLC39A5_uc010sqi.1_Silent_p.L125L|SLC39A5_uc010sqk.1_Silent_p.L234L NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (metal ion 234 Cytoplasmic (Potential). zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity ovary(1)|skin(1) 2 TGCTGCTGCTGCGGCTCCTGG 0.637 SLC39A5 283375 broad.mit.edu 37 12 56630979 56630979 + Missense_Mutation SNP T T G rs145213363 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:56630979T>G uc010sqj.1 + 12 1591 c.1334T>G c.(1333-1335)CTG>CGG p.L445R SLC39A5_uc010sqk.1_Missense_Mutation_p.L445R NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (metal ion 445 Helical; (Potential). zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity ovary(1)|skin(1) 2 TTTCGGCGGCTGCTGCTGCTG 0.642 ANKRD52 283373 broad.mit.edu 37 12 56639302 56639302 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:56639302G>A uc001skm.3 - 21 2353 c.2263C>T c.(2263-2265)CGC>TGC p.R755C NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 755 ANK 22. protein binding ovary(2) 2 ATGGGCGTGCGGCCCTTAAAG 0.632 APOF 319 broad.mit.edu 37 12 56755073 56755073 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:56755073T>C uc001sle.1 - 2 971 c.917A>G c.(916-918)TAC>TGC p.Y306C NM_001638 NP_001629 Q13790 APOF_HUMAN apolipoprotein F precursor 306 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding 0 CCACCCCCAGTAGGGAGCTGA 0.443 LRP1 4035 broad.mit.edu 37 12 57567028 57567028 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:57567028C>T uc001snd.2 + 21 3707 c.3241C>T c.(3241-3243)CGC>TGC p.R1081C NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1081 Extracellular (Potential).|LDL-receptor class A 8. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTGCGGTGGCGCTGCGATGG 0.627 OREG0021936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DPY19L2 283417 broad.mit.edu 37 12 63976277 63976277 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:63976277A>G uc001srp.1 - 18 1815 c.1634T>C c.(1633-1635)GTG>GCG p.V545A DPY19L2_uc010sso.1_5'UTR NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 545 Helical; (Potential). multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GGCAGTAAACACTAACAACTG 0.328 DPY19L2 283417 broad.mit.edu 37 12 64061905 64061905 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:64061905G>A uc001srp.1 - 1 450 c.269C>T c.(268-270)GCG>GTG p.A90V DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 90 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CCGGAGCTGCGCCAGGGAATT 0.602 GRIP1 23426 broad.mit.edu 37 12 66990656 66990656 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:66990656G>A uc001stk.2 - 2 348 c.107C>T c.(106-108)GCG>GTG p.A36V GRIP1_uc010sta.1_Intron|GRIP1_uc001stm.2_Missense_Mutation_p.A36V NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 36 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CACAGCCAACGCTCCATCAGG 0.428 CAND1 55832 broad.mit.edu 37 12 67706561 67706561 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:67706561T>C uc001stn.2 + 15 4081 c.3644T>C c.(3643-3645)ATC>ACC p.I1215T CAND1_uc001sto.2_Missense_Mutation_p.I725T NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 1215 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TTTGAAAGTATCCAGAAAGAT 0.423 YEATS4 8089 broad.mit.edu 37 12 69753804 69753804 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:69753804G>A uc001sux.2 + 1 272 c.51_splice c.e1+1 p.K17_splice NM_006530 NP_006521 O95619 YETS4_HUMAN glioma-amplified sequence-41 histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth NuA4 histone acetyltransferase complex|nuclear matrix DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton 0 all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) GAGAGTAAAGGTCAGTGCCCG 0.662 TRHDE 29953 broad.mit.edu 37 12 73050744 73050744 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:73050744A>G uc001sxa.2 + 18 2917 c.2887A>G c.(2887-2889)AGT>GGT p.S963G NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 963 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CAAACTCATCAGTGGTGTCAC 0.259 NAV3 89795 broad.mit.edu 37 12 78569092 78569092 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:78569092G>A uc001syp.2 + 25 5161 c.4988G>A c.(4987-4989)CGC>CAC p.R1663H NAV3_uc001syo.2_Missense_Mutation_p.R1663H|NAV3_uc010sub.1_Missense_Mutation_p.R1149H|NAV3_uc009zsf.2_Missense_Mutation_p.R494H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1663 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTAGATCTTCGCATCAGAAGA 0.428 HNSCC(70;0.22) TMTC2 160335 broad.mit.edu 37 12 83455558 83455558 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:83455558T>C uc001szt.2 + 11 2711 c.2279T>C c.(2278-2280)CTC>CCC p.L760P TMTC2_uc010suk.1_Missense_Mutation_p.L515P NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 760 TPR 9. endoplasmic reticulum|integral to membrane binding ovary(2) 2 CAGGCTAGCCTCAATGAAGCA 0.328 POC1B 282809 broad.mit.edu 37 12 89864258 89864258 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:89864258T>C uc001tbc.2 - 7 795 c.690A>G c.(688-690)GGA>GGG p.G230G POC1B_uc001tba.2_Silent_p.G188G|POC1B_uc001tbb.2_Silent_p.G100G|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_Intron NM_172240 NP_758440 Q8TC44 POC1B_HUMAN WD repeat domain 51B 230 WD 6. cell projection organization centriole|microtubule basal body ovary(1) 1 TGCAATTAACTCCACCGCTGT 0.388 NR2C1 7181 broad.mit.edu 37 12 95443007 95443007 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:95443007G>A uc001tdm.3 - 9 1224 c.968C>T c.(967-969)GCA>GTA p.A323V NR2C1_uc010suu.1_Missense_Mutation_p.A323V|NR2C1_uc001tdo.3_Missense_Mutation_p.A323V|NR2C1_uc001tdn.3_Missense_Mutation_p.A323V NM_003297 NP_003288 P13056 NR2C1_HUMAN nuclear receptor subfamily 2, group C, member 1 323 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 AGTGTCAAATGCCCTGTATGA 0.423 FGD6 55785 broad.mit.edu 37 12 95604038 95604038 + Missense_Mutation SNP G G A rs150209312 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:95604038G>A uc001tdp.3 - 2 1246 c.1022C>T c.(1021-1023)CCG>CTG p.P341L FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 341 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 TGAATTCCCCGGTTCTTCAGT 0.413 AMDHD1 144193 broad.mit.edu 37 12 96350720 96350720 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:96350720C>T uc001tel.1 + 4 673 c.567C>T c.(565-567)TGC>TGT p.C189C AMDHD1_uc009zth.1_Silent_p.C80C NM_152435 NP_689648 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 189 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1) 1 CTACCTACTGCGGGGCTCATT 0.597 ELK3 2004 broad.mit.edu 37 12 96641215 96641215 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:96641215C>T uc001teo.1 + 3 984 c.705C>T c.(703-705)TCC>TCT p.S235S NM_005230 NP_005221 P41970 ELK3_HUMAN ELK3 protein 235 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 all_cancers(2;0.00173) GTATTTCATCCGCCTCACCCT 0.617 IGF1 3479 broad.mit.edu 37 12 102813396 102813396 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:102813396C>T uc001tjp.3 - 3 512 c.293G>A c.(292-294)CGG>CAG p.R98Q IGF1_uc001tjn.2_Missense_Mutation_p.R82Q|IGF1_uc001tjm.2_Missense_Mutation_p.R98Q|IGF1_uc001tjo.2_Missense_Mutation_p.R98Q NM_001111285 NP_001104755 P05019 IGF1_HUMAN insulin-like growth factor 1 isoform 3 98 A. anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|pancreas(1) 2 ATCACAGCTCCGGAAGCAGCA 0.597 KIAA1033 23325 broad.mit.edu 37 12 105540906 105540906 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:105540906G>A uc001tld.2 + 24 2583 c.2496G>A c.(2494-2496)ACG>ACA p.T832T KIAA1033_uc010swr.1_Silent_p.T833T|KIAA1033_uc010sws.1_Silent_p.T644T NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 832 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 CACATGGCACGGGAATTATGA 0.353 ASCL4 121549 broad.mit.edu 37 12 108169016 108169016 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:108169016G>A uc001tmr.2 + 1 855 c.24G>A c.(22-24)GCG>GCA p.A8A NM_203436 NP_982260 Q6XD76 ASCL4_HUMAN achaete-scute complex-like 4 7 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1) 1 GTAAACCGGCGGAACGGCTGG 0.607 SELPLG 6404 broad.mit.edu 37 12 109017999 109017999 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:109017999C>T uc001tni.2 - 2 245 c.85G>A c.(85-87)GAG>AAG p.E29K SELPLG_uc001tnh.2_Missense_Mutation_p.E29K|SELPLG_uc010sxe.1_Missense_Mutation_p.E45K NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 29 Extracellular (Potential). Missing (in Ref. 3; BAC05283). blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 AAGGCTTTCTCGGCTTCATCT 0.572 ACACB 32 broad.mit.edu 37 12 109674983 109674983 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:109674983G>A uc001tob.2 + 34 4579 c.4460G>A c.(4459-4461)CGC>CAC p.R1487H ACACB_uc001toc.2_Missense_Mutation_p.R1487H|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R153H NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1487 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GCAGAAGATCGCATTTACCGT 0.557 UBE3B 89910 broad.mit.edu 37 12 109972426 109972426 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:109972426C>T uc001top.2 + 28 3649 c.3046C>T c.(3046-3048)CGG>TGG p.R1016W UBE3B_uc001toq.2_Missense_Mutation_p.R1016W|UBE3B_uc001tos.2_Missense_Mutation_p.R443W|UBE3B_uc001tot.2_Missense_Mutation_p.R134W|UBE3B_uc010sxp.1_3'UTR NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1016 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 CAGCGTCCTCCGGGGCTTCTT 0.632 TRPV4 59341 broad.mit.edu 37 12 110238533 110238533 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:110238533C>T uc001tpj.1 - 4 838 c.743G>A c.(742-744)CGT>CAT p.R248H TRPV4_uc001tpg.1_Missense_Mutation_p.R214H|TRPV4_uc001tph.1_Intron|TRPV4_uc001tpi.1_Intron|TRPV4_uc001tpk.1_Missense_Mutation_p.R248H|TRPV4_uc001tpl.1_Missense_Mutation_p.R248H NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 248 Cytoplasmic (Potential).|ANK 1. actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TTTGCAGCGACGCTCAATGGC 0.662 ANKRD13A 88455 broad.mit.edu 37 12 110457005 110457005 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:110457005C>T uc001tpx.2 + 6 865 c.606C>T c.(604-606)TTC>TTT p.F202F ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Silent_p.F202F|ANKRD13A_uc010sxw.1_Silent_p.F202F NM_033121 NP_149112 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13 202 0 CCGAACGCTTCGACCTTTCCC 0.488 ATXN2 6311 broad.mit.edu 37 12 111954043 111954043 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:111954043C>T uc001tsj.2 - 10 1932 c.1770G>A c.(1768-1770)TCG>TCA p.S590S ATXN2_uc001tsh.2_Silent_p.S325S|ATXN2_uc001tsi.2_Silent_p.S301S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Silent_p.S325S NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 590 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 TGGATGGCCGCGAGGGGGGCC 0.602 ANAPC5 51433 broad.mit.edu 37 12 121775094 121775094 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:121775094C>T uc001uag.2 - 6 881 c.759G>A c.(757-759)GCG>GCA p.A253A ANAPC5_uc001uae.2_5'Flank|ANAPC5_uc010szv.1_5'Flank|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Silent_p.A154A|ANAPC5_uc001uai.1_5'UTR NM_016237 NP_057321 Q9UJX4 APC5_HUMAN anaphase-promoting complex subunit 5 isoform a 253 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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 K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity skin(3)|breast(2)|kidney(1) 6 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AAAGACTTACCGCTTCAGCAA 0.303 KDM2B 84678 broad.mit.edu 37 12 122016853 122016853 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:122016853T>C uc001uat.2 - 2 231 c.127_splice c.e2-1 p.R43_splice KDM2B_uc001uas.2_Splice_Site_p.R12_splice|KDM2B_uc001uau.2_Splice_Site|KDM2B_uc001uav.3_Splice_Site_p.R43_splice NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 AATCGGGCGCTGCGAGGACCC 0.647 RSRC2 65117 broad.mit.edu 37 12 122992836 122992836 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:122992836C>T uc001ucr.2 - 8 1110 c.964G>A c.(964-966)GCT>ACT p.A322T RSRC2_uc001uco.2_Missense_Mutation_p.A91T|RSRC2_uc001ucp.2_Missense_Mutation_p.A263T|RSRC2_uc001ucq.2_Missense_Mutation_p.A90T|RSRC2_uc001ucs.2_Missense_Mutation_p.A91T|RSRC2_uc001uct.2_Missense_Mutation_p.A274T|RSRC2_uc001ucu.2_Missense_Mutation_p.A323T NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 322 ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) GGATTAACAGCGGCTGGGTTA 0.448 P2RX2 22953 broad.mit.edu 37 12 133197083 133197083 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:133197083G>A uc001ukj.1 + 7 688 c.688G>A c.(688-690)GAG>AAG p.E230K P2RX2_uc001uki.1_Missense_Mutation_p.E230K|P2RX2_uc001ukk.1_Missense_Mutation_p.E230K|P2RX2_uc001ukl.1_Missense_Mutation_p.E206K|P2RX2_uc001ukm.1_Missense_Mutation_p.E158K|P2RX2_uc001ukn.1_Missense_Mutation_p.E138K|P2RX2_uc009zyt.1_Missense_Mutation_p.E230K|P2RX2_uc001uko.1_Missense_Mutation_p.R194Q NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 230 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) CACGTTCCACGAGGCCTCCGA 0.627 POLE 5426 broad.mit.edu 37 12 133256104 133256104 + Missense_Mutation SNP G G A rs151325267 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:133256104G>A uc001uks.1 - 6 601 c.557C>T c.(556-558)GCG>GTG p.A186V POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.A159V NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 186 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) AGCTGTGTACGCGTCGCTGGC 0.517 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage ANKLE2 23141 broad.mit.edu 37 12 133319798 133319798 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:133319798G>A uc001ukx.2 - 6 1362 c.1295C>T c.(1294-1296)TCG>TTG p.S432L ANKLE2_uc001uky.3_Missense_Mutation_p.S370L NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 432 ANK. cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) ATGGTGTGACGAAAGCACGTT 0.353 GOLGA3 2802 broad.mit.edu 37 12 133374948 133374948 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:133374948G>A uc001ukz.1 - 9 2475 c.1916C>T c.(1915-1917)GCG>GTG p.A639V GOLGA3_uc001ula.1_Missense_Mutation_p.A639V|GOLGA3_uc001ulb.2_Missense_Mutation_p.A639V NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 639 Gln-rich.|Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CAGCTGTGCCGCGATGCGCCC 0.577 IFT88 8100 broad.mit.edu 37 13 21264849 21264849 + Missense_Mutation SNP G G A rs138716049 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:21264849G>A uc001unh.2 + 27 2671 c.2275G>A c.(2275-2277)GGC>AGC p.G759S IFT88_uc001uni.2_Missense_Mutation_p.G750S|IFT88_uc001unj.2_Missense_Mutation_p.G749S|IFT88_uc010tcq.1_Missense_Mutation_p.G730S NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 759 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TTCAGATAGTGGCCAGAACTA 0.348 PARP4 143 broad.mit.edu 37 13 25009229 25009229 + Silent SNP G G A rs145651021 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:25009229G>A uc001upl.2 - 31 4156 c.4050C>T c.(4048-4050)TTC>TTT p.F1350F NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1350 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CAGCTGAACCGAAACTAGCTA 0.557 ATP8A2 51761 broad.mit.edu 37 13 26273359 26273359 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:26273359C>T uc001uqk.2 + 25 2402 c.2260C>T c.(2260-2262)CTG>TTG p.L754L ATP8A2_uc010tdi.1_Silent_p.L714L|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.L304L NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 714 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TGGGAATTTGCTGGGCAAGGA 0.488 WASF3 10810 broad.mit.edu 37 13 27255288 27255288 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:27255288G>A uc001uqv.2 + 8 1039 c.814G>A c.(814-816)GTG>ATG p.V272M WASF3_uc001uqw.2_Missense_Mutation_p.V269M NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 272 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) AGCTGGTGACGTGCCACCACA 0.632 FRY 10129 broad.mit.edu 37 13 32705925 32705925 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:32705925G>A uc001utx.2 + 8 1329 c.833G>A c.(832-834)CGA>CAA p.R278Q FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AAATTCTTTCGAATTAAGATG 0.408 BRCA2 675 broad.mit.edu 37 13 32914985 32914985 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:32914985T>C uc001uub.1 + 11 6720 c.6493T>C c.(6493-6495)TTG>CTG p.L2165L NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2165 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CAAACAACAGTTGGTATTAGG 0.318 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) STARD13 90627 broad.mit.edu 37 13 33700225 33700225 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:33700225A>G uc001uuw.2 - 7 2201 c.2075T>C c.(2074-2076)CTC>CCC p.L692P STARD13_uc001uuu.2_Missense_Mutation_p.L684P|STARD13_uc001uuv.2_Missense_Mutation_p.L574P|STARD13_uc001uux.2_Missense_Mutation_p.L657P|STARD13_uc010tec.1_RNA NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 692 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TACCTGATCGAGGCAGTTGCT 0.557 DCLK1 9201 broad.mit.edu 37 13 36396959 36396959 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:36396959G>A uc001uvf.2 - 11 1694 c.1461C>T c.(1459-1461)GAC>GAT p.D487D DCLK1_uc001uve.3_Silent_p.D180D|DCLK1_uc010teh.1_Silent_p.D180D|DCLK1_uc010abk.2_Intron NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 487 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TCCCACTGGCGTCTCTCTCGG 0.507 FAM48A 55578 broad.mit.edu 37 13 37599472 37599472 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:37599472T>C uc001uwg.2 - 17 1562 c.1314A>G c.(1312-1314)CCA>CCG p.P438P FAM48A_uc010abt.2_Silent_p.P439P|FAM48A_uc001uwh.2_Silent_p.P439P|FAM48A_uc001uwi.2_Silent_p.P438P|FAM48A_uc001uwj.2_Silent_p.P439P|FAM48A_uc001uwk.2_Silent_p.P438P|FAM48A_uc010tes.1_Silent_p.P402P|FAM48A_uc001uwl.1_Silent_p.P438P|FAM48A_uc001uwd.2_5'Flank|FAM48A_uc001uwe.2_5'Flank|FAM48A_uc001uwf.2_Silent_p.P16P NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A 438 autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) TTTCTTTCCCTGGAGAAACCT 0.393 NAA16 79612 broad.mit.edu 37 13 41894849 41894849 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:41894849T>C uc001uyf.2 + 4 615 c.291T>C c.(289-291)GAT>GAC p.D97D NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Silent_p.D97D|NAA16_uc001uyd.3_Silent_p.D97D NM_024561 NP_078837 Q6N069 NAA16_HUMAN NMDA receptor regulated 1-like protein isoform 97 TPR 2. N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding central_nervous_system(1) 1 AAAAATATGATGAAGCTATAA 0.353 AKAP11 11215 broad.mit.edu 37 13 42873557 42873557 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:42873557T>C uc001uys.1 + 8 850 c.675T>C c.(673-675)GGT>GGC p.G225G NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 225 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) CGGTTACTGGTCATCATTTAG 0.398 ENOX1 55068 broad.mit.edu 37 13 43930086 43930086 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:43930086G>A uc001uza.3 - 8 1092 c.792C>T c.(790-792)CAC>CAT p.H264H ENOX1_uc001uzb.3_Silent_p.H264H|ENOX1_uc001uzc.3_Silent_p.H264H|ENOX1_uc001uyz.3_Translation_Start_Site|ENOX1_uc010tfm.1_Silent_p.H77H NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 264 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GAGCGGCTTCGTGCTCCGAGT 0.637 CPB2 1361 broad.mit.edu 37 13 46661878 46661878 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:46661878A>G uc001vaw.2 - 2 217 c.150_splice c.e2+1 p.E50_splice uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Splice_Site_p.E50_splice NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GGGAGAAATTACCTCATATGT 0.383 FAM124A 220108 broad.mit.edu 37 13 51854975 51854975 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:51854975G>T uc001vfg.1 + 4 1355 c.1224G>T c.(1222-1224)GGG>GGT p.G408G FAM124A_uc001vff.1_Silent_p.G444G NM_145019 NP_659456 Q86V42 F124A_HUMAN hypothetical protein LOC220108 408 central_nervous_system(1) 1 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) ACCTAGAGGGGGCCCAGGAGA 0.597 THSD1 55901 broad.mit.edu 37 13 52960165 52960165 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:52960165G>A uc001vgo.2 - 4 1723 c.1178C>T c.(1177-1179)GCT>GTT p.A393V THSD1_uc001vgp.2_Intron|THSD1_uc010tgz.1_Missense_Mutation_p.A14V|THSD1_uc010aea.2_Intron NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 393 Extracellular (Potential).|TSP type-1. extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ATACCTACCAGCACACTCCTC 0.552 SCEL 8796 broad.mit.edu 37 13 78176201 78176201 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:78176201A>G uc001vki.2 + 16 1089 c.919A>G c.(919-921)ATC>GTC p.I307V SCEL_uc001vkj.2_Missense_Mutation_p.I287V|SCEL_uc010thx.1_Missense_Mutation_p.I285V NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 307 16 X approximate tandem repeats.|4. 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) GTTGTAAAGAATCCAAAGCCT 0.398 SLAIN1 122060 broad.mit.edu 37 13 78318470 78318470 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:78318470G>A uc010thy.1 + 3 370 c.327G>A c.(325-327)GAG>GAA p.E109E SLAIN1_uc001vkk.1_Silent_p.E32E|SLAIN1_uc001vkl.1_5'UTR|SLAIN1_uc010thz.1_5'UTR|SLAIN1_uc010aex.1_5'UTR|SLAIN1_uc010aey.1_5'UTR|SLAIN1_uc001vkm.2_5'UTR NM_144595 NP_653196 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 B 251 ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) TCGACAGTGAGCTGAGTACTT 0.453 SLITRK5 26050 broad.mit.edu 37 13 88329581 88329581 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:88329581C>T uc001vln.2 + 2 2157 c.1938C>T c.(1936-1938)ACC>ACT p.T646T SLITRK5_uc010tic.1_Silent_p.T405T NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 646 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGAATAGCACCGGGGCCCCCG 0.612 GPC5 2262 broad.mit.edu 37 13 92345891 92345891 + Missense_Mutation SNP C C A rs141328977 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:92345891C>A uc010tif.1 + 3 1142 c.776C>A c.(775-777)CCG>CAG p.P259Q NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 259 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CAATACTGCCCGCACTGCCAA 0.552 ABCC4 10257 broad.mit.edu 37 13 95714990 95714990 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:95714990C>T uc001vmd.3 - 26 3453 c.3334G>A c.(3334-3336)GAT>AAT p.D1112N ABCC4_uc010afj.2_5'UTR|ABCC4_uc010afk.2_Missense_Mutation_p.D1065N NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 1112 ABC transporter 2. 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) TTCCTTAAATCGTGAAGTCCA 0.383 UGGT2 55757 broad.mit.edu 37 13 96529620 96529620 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:96529620T>C uc001vmt.2 - 29 3558 c.3388_splice c.e29-1 p.G1130_splice UGGT2_uc001vmu.1_3'UTR NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 AAAATACCCCTTTTAAGATGA 0.318 FARP1 10160 broad.mit.edu 37 13 99087849 99087849 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:99087849G>T uc001vnj.2 + 19 2499 c.2163G>T c.(2161-2163)ACG>ACT p.T721T FARP1_uc001vnh.2_Silent_p.T721T NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 721 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CAGAGATCACGGAGATGGTGG 0.522 DOCK9 23348 broad.mit.edu 37 13 99515326 99515326 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:99515326C>T uc001vnt.2 - 32 3584 c.3529G>A c.(3529-3531)GTC>ATC p.V1177I DOCK9_uc001vnw.2_Missense_Mutation_p.V1176I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.V1177I|DOCK9_uc010tis.1_Missense_Mutation_p.V1176I|DOCK9_uc010tit.1_Missense_Mutation_p.V1177I|DOCK9_uc010tiq.1_Missense_Mutation_p.V155I|DOCK9_uc010afu.1_Missense_Mutation_p.V1023I NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1177 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ATCCGCTGGACGTTTTCAATC 0.517 TMTC4 84899 broad.mit.edu 37 13 101277913 101277913 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:101277913G>A uc001vou.2 - 14 1815 c.1655C>T c.(1654-1656)GCG>GTG p.A552V TMTC4_uc001vot.2_Missense_Mutation_p.A571V|TMTC4_uc010tja.1_Missense_Mutation_p.A441V|TMTC4_uc001vov.1_Missense_Mutation_p.A297V|TMTC4_uc001vow.1_Missense_Mutation_p.A335V NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 552 TPR 4. integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ATTCATCCACGCAGCGGCAAA 0.453 COL4A2 1284 broad.mit.edu 37 13 111109772 111109772 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:111109772G>T uc001vqx.2 + 21 1711 c.1422G>T c.(1420-1422)AAG>AAT p.K474N NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 474 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GCGGACCAAAGGGGTGGAAAG 0.582 MCF2L 23263 broad.mit.edu 37 13 113740563 113740563 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:113740563C>T uc001vsu.2 + 21 2566 c.2544C>T c.(2542-2544)GAC>GAT p.D848D MCF2L_uc001vsq.2_Silent_p.D848D|MCF2L_uc010tjr.1_Silent_p.D791D|MCF2L_uc001vsr.2_Silent_p.D795D|MCF2L_uc001vss.3_Silent_p.D789D|MCF2L_uc010tjs.1_Silent_p.D789D|MCF2L_uc001vst.1_Silent_p.D753D NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 821 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CCGGCTATGACGTAAGGCGCC 0.652 F10 2159 broad.mit.edu 37 13 113803259 113803259 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:113803259G>A uc001vsx.2 + 8 952 c.895G>A c.(895-897)GGT>AGT p.G299S F10_uc001vsy.2_Silent_p.A295A|F10_uc001vsz.2_Silent_p.A297A NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 299 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAGGAGGGCGGTGAGGCGGT 0.602 PCID2 55795 broad.mit.edu 37 13 113833353 113833353 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:113833353G>A uc010tju.1 - 13 1118 c.1037C>T c.(1036-1038)GCC>GTC p.A346V PCID2_uc001vtb.2_Missense_Mutation_p.A179V|PCID2_uc010tjv.1_Missense_Mutation_p.A346V|PCID2_uc010tjw.1_Missense_Mutation_p.A346V|PCID2_uc001vte.2_Missense_Mutation_p.A239V|PCID2_uc001vtd.2_Missense_Mutation_p.A239V|PCID2_uc001vtf.2_Missense_Mutation_p.A239V NM_001127203 NP_001120675 Q5JVF3 PCID2_HUMAN PCI domain containing 2 346 PCI. negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) GAACTTCAAGGCAACCAGAAA 0.458 POTEG 404785 broad.mit.edu 37 14 19553784 19553784 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:19553784A>G uc001vuz.1 + 1 420 c.368A>G c.(367-369)TAC>TGC p.Y123C POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 123 ovary(1) 1 TGGGGAGACTACGACGACAGC 0.592 PARP2 10038 broad.mit.edu 37 14 20813247 20813247 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:20813247G>A uc001vxc.2 + 2 231 c.203G>A c.(202-204)GGT>GAT p.G68D RPPH1_uc001vxa.1_5'Flank|PARP2_uc001vxd.2_Splice_Site_p.E68_splice|PARP2_uc001vxb.1_Missense_Mutation_p.G68D NM_005484 NP_005475 Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase family, member 2 68 Potential. protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity ovary(1)|pancreas(1) 2 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) AAGCAAGATGGTATGCCAGGA 0.478 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA TMEM55B 90809 broad.mit.edu 37 14 20928395 20928395 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:20928395G>T uc001vxl.2 - 3 549 c.396C>A c.(394-396)ATC>ATA p.I132I TMEM55B_uc001vxk.2_Silent_p.I139I NM_144568 NP_653169 Q86T03 TM55B_HUMAN transmembrane protein 55B isoform 2 132 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) TCACTTTGCAGATAAGGAGAC 0.483 TPPP2 122664 broad.mit.edu 37 14 21498712 21498712 + Translation_Start_Site SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:21498712C>T uc001vzh.2 + 2 160 c.-28C>T c.(-30--26)CACGA>CATGA NDRG2_uc010tll.1_Intron NM_173846 NP_776245 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family cytoplasm 0 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) GTGTCTCCCACGACTGCCCTC 0.527 CHD8 57680 broad.mit.edu 37 14 21871355 21871355 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:21871355T>C uc001was.1 - 18 2792 c.2698A>G c.(2698-2700)ATT>GTT p.I900V CHD8_uc001war.1_Missense_Mutation_p.I796V|CHD8_uc001wav.1_Missense_Mutation_p.I342V NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1179 Helicase C-terminal. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CGCCCATCAATACGTTCATAT 0.483 ACIN1 22985 broad.mit.edu 37 14 23549510 23549510 + Missense_Mutation SNP G G A rs12589748 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:23549510G>A uc001wit.3 - 6 1536 c.1208C>T c.(1207-1209)GCG>GTG p.A403V ACIN1_uc001wis.3_Missense_Mutation_p.A85V|ACIN1_uc010akg.2_Missense_Mutation_p.A403V|ACIN1_uc010tnj.1_Missense_Mutation_p.A363V NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 403 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CTCTGGCAGCGCTACAAGTGA 0.478 CPNE6 9362 broad.mit.edu 37 14 24546935 24546935 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:24546935C>T uc001wll.2 + 16 1769 c.1670C>T c.(1669-1671)CCG>CTG p.P557L CPNE6_uc010tnv.1_Missense_Mutation_p.P612L|CPNE6_uc001wlm.2_Missense_Mutation_p.P382L|CPNE6_uc001wln.2_3'UTR NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 557 lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) AGCCCTAGCCCGTGACTGCCT 0.657 PSME2 5721 broad.mit.edu 37 14 24613431 24613431 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:24613431T>C uc001wmj.2 - 8 532 c.467A>G c.(466-468)AAA>AGA p.K156R FAM158A_uc001wmi.2_5'Flank|PSME2_uc001wmk.2_Missense_Mutation_p.K79R|RNF31_uc001wml.1_5'Flank NM_002818 NP_002809 Q9UL46 PSME2_HUMAN proteasome activator subunit 2 156 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome activator complex 0 GBM - Glioblastoma multiforme(265;0.00839) AGCTTCCACTTTGGTCTTGAC 0.542 FOXG1 2290 broad.mit.edu 37 14 29237480 29237480 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:29237480C>T uc001wqe.2 + 1 1194 c.995C>T c.(994-996)TCG>TTG p.S332L NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 332 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GGCACCACGTCGGCCTACCCC 0.647 BRMS1L 84312 broad.mit.edu 37 14 36300660 36300660 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:36300660G>A uc001wtl.2 + 2 313 c.187G>A c.(187-189)GAT>AAT p.D63N BRMS1L_uc010tpx.1_Missense_Mutation_p.D15N NM_032352 NP_115728 Q5PSV4 BRM1L_HUMAN breast cancer metastasis-suppressor 1-like 63 Potential. regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus skin(1) 1 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) GGAATGTTTGGATGAAATGTC 0.318 MBIP 51562 broad.mit.edu 37 14 36780790 36780790 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:36780790C>T uc001wtm.2 - 6 867 c.779G>A c.(778-780)CGG>CAG p.R260Q MBIP_uc001wto.2_Missense_Mutation_p.R260Q|MBIP_uc010tpy.1_Missense_Mutation_p.R119Q|MBIP_uc001wtn.2_Missense_Mutation_p.R260Q NM_016586 NP_057670 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 isoform 1 260 Interaction with MAP3K12. histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity 0 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) TGTCTGTAACCGCAAGTGGGC 0.408 PAX9 5083 broad.mit.edu 37 14 37132270 37132270 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:37132270C>T uc001wty.3 + 3 890 c.173C>T c.(172-174)GCG>GTG p.A58V PAX9_uc010amq.2_5'Flank NM_006194 NP_006185 P55771 PAX9_HUMAN paired box 9 58 Paired. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) AAGATCCTGGCGCGATACAAC 0.637 SEC23A 10484 broad.mit.edu 37 14 39532546 39532546 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:39532546A>G uc001wup.1 - 12 1603 c.1380T>C c.(1378-1380)TAT>TAC p.Y460Y SEC23A_uc010tqa.1_Silent_p.Y322Y|SEC23A_uc010tqb.1_Silent_p.Y431Y|SEC23A_uc010tqc.1_Silent_p.Y322Y NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 460 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) CAACCTCAAAATATATGGCTA 0.348 SEC23A 10484 broad.mit.edu 37 14 39565194 39565194 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:39565194T>C uc001wup.1 - 2 352 c.129A>G c.(127-129)ACA>ACG p.T43T SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Silent_p.T43T NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 43 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) CTTTCAGTGGTGTAAACAGGG 0.433 FAM179B 23116 broad.mit.edu 37 14 45475281 45475281 + Silent SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:45475281A>C uc001wvv.2 + 5 2924 c.2715A>C c.(2713-2715)CGA>CGC p.R905R FAM179B_uc001wvw.2_Silent_p.R905R|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Silent_p.R905R NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 905 binding skin(2)|upper_aerodigestive_tract(1) 3 CTTCCCGACGAGGTCTAAATG 0.428 CDKL1 8814 broad.mit.edu 37 14 50863894 50863894 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:50863894T>C uc010anu.1 - 4 396 c.396A>G c.(394-396)GGA>GGG p.G132G CDKL1_uc001wxz.2_5'Flank NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 Error:Variant_position_missing_in_Q00532_after_alignment cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) TAGGAGCCCCTCCTGAGCGGT 0.597 FRMD6 122786 broad.mit.edu 37 14 52186842 52186842 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:52186842G>T uc001wzd.2 + 11 1379 c.1094G>T c.(1093-1095)CGG>CTG p.R365L FRMD6_uc001wzb.2_Missense_Mutation_p.R357L|FRMD6_uc001wzc.2_Missense_Mutation_p.R357L|FRMD6_uc001wze.2_Missense_Mutation_p.R288L|FRMD6_uc001wzf.2_Missense_Mutation_p.R58L|FRMD6_uc001wzg.2_Missense_Mutation_p.R7L NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 365 cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) CTGGAAAAACGGTCGCGGGCC 0.577 BMP4 652 broad.mit.edu 37 14 54418806 54418806 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:54418806G>T uc001xal.3 - 2 322 c.135C>A c.(133-135)CGC>CGA p.R45R BMP4_uc010aoh.2_Silent_p.R45R|BMP4_uc001xao.3_Silent_p.R45R|BMP4_uc001xan.3_Silent_p.R45R NM_130851 NP_570912 P12644 BMP4_HUMAN bone morphogenetic protein 4 preproprotein 45 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity 0 GCCCTGAGCGGCGTCCTCCCG 0.612 EXOC5 10640 broad.mit.edu 37 14 57698340 57698340 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:57698340G>T uc001xct.2 - 11 1283 c.1032C>A c.(1030-1032)TCC>TCA p.S344S EXOC5_uc001xcs.2_Silent_p.S23S|EXOC5_uc010trg.1_Silent_p.S289S|EXOC5_uc010trh.1_Silent_p.S279S NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein 344 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 TCTCCAAATAGGAAATGAAAA 0.353 SFRS5 6430 broad.mit.edu 37 14 70235592 70235592 + Missense_Mutation SNP G G A rs149440957 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:70235592G>A uc001xll.2 + 5 1726 c.275G>A c.(274-276)CGC>CAC p.R92H SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.R92H|SFRS5_uc001xlo.2_Missense_Mutation_p.R92H|SFRS5_uc001xlp.2_Missense_Mutation_p.R92H|SFRS5_uc001xlq.2_Missense_Mutation_p.R89H NM_006925 NP_008856 Q13243 SRSF5_HUMAN splicing factor, arginine/serine-rich 5 92 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding 0 all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154) TTTAGTAGTCGCAGACCTCGA 0.443 ADAM21 8747 broad.mit.edu 37 14 70925078 70925078 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:70925078T>C uc001xmd.2 + 1 862 c.862T>C c.(862-864)TCC>CCC p.S288P NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 288 Peptidase M12B.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AATCAGTCTTTCCCAGCTACA 0.373 RGS6 9628 broad.mit.edu 37 14 73029147 73029147 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:73029147G>A uc001xna.3 + 17 1914 c.1391G>A c.(1390-1392)CGC>CAC p.R464H RGS6_uc010ttn.1_Missense_Mutation_p.R482H|RGS6_uc001xmx.3_Missense_Mutation_p.R464H|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.R482H|RGS6_uc001xmz.1_Intron NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 464 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GCGGGCAAGCGCCTCACGGGC 0.672 C14orf169 79697 broad.mit.edu 37 14 73959137 73959137 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:73959137G>A uc001xok.1 + 3 1495 c.1416G>A c.(1414-1416)CCG>CCA p.P472P HEATR4_uc010tua.1_Intron NM_024644 NP_078920 Q9H6W3 NO66_HUMAN chromosome 14 open reading frame 169 472 negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215) CTAAGGATCCGCGAAGAACCG 0.557 COQ6 51004 broad.mit.edu 37 14 74424920 74424920 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:74424920C>A uc001xph.2 + 5 632 c.552C>A c.(550-552)GAC>GAA p.D184E ENTPD5_uc001xpi.2_3'UTR|COQ6_uc001xpe.2_Missense_Mutation_p.D109E|COQ6_uc001xpf.2_Missense_Mutation_p.D109E|COQ6_uc010tuk.1_Missense_Mutation_p.D159E|COQ6_uc010tul.1_Missense_Mutation_p.D129E|COQ6_uc010tum.1_Missense_Mutation_p.D184E|COQ6_uc010tun.1_Missense_Mutation_p.D129E|COQ6_uc001xpg.2_Missense_Mutation_p.D184E NM_182476 NP_872282 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 homolog isoform a 184 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.00337) CTATGGCCGACTCCAGCCCTT 0.468 LTBP2 4053 broad.mit.edu 37 14 74969608 74969608 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:74969608G>A uc001xqa.2 - 34 5305 c.4918C>T c.(4918-4920)CGC>TGC p.R1640C NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1640 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GCCTCAATGCGAGCCACGTTG 0.617 ANGEL1 23357 broad.mit.edu 37 14 77257053 77257053 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:77257053G>A uc001xsv.2 - 9 1866 c.1753C>T c.(1753-1755)CGT>TGT p.R585C ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 585 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) GGGCGGCCACGCTGGGGCAGG 0.502 ADCK1 57143 broad.mit.edu 37 14 78397874 78397874 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:78397874G>A uc001xui.2 + 10 1319 c.1220G>A c.(1219-1221)CGC>CAC p.R407H ADCK1_uc001xuj.2_Missense_Mutation_p.R339H|ADCK1_uc001xul.2_Missense_Mutation_p.R114H NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 414 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) TTAGAGATTCGCAACAACGCG 0.597 NRXN3 9369 broad.mit.edu 37 14 78710088 78710088 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:78710088G>A uc001xum.1 + 2 c.1445G>A Q9Y4C0 NRX3A_HUMAN Homo sapiens mRNA for KIAA0743 protein, partial cds. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TCTCCTGGACGGCCACCCCAC 0.607 C14orf145 145508 broad.mit.edu 37 14 81366324 81366324 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:81366324C>T uc001xux.2 - 6 701 c.530G>A c.(529-531)CGC>CAC p.R177H C14orf145_uc001xuz.2_Missense_Mutation_p.R177H|C14orf145_uc001xva.1_Missense_Mutation_p.R177H|C14orf145_uc001xuy.1_Missense_Mutation_p.R35H NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 177 centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) ATCTCCAAGGCGAATTTGTTC 0.408 SLC24A4 123041 broad.mit.edu 37 14 92905714 92905714 + Silent SNP C C T rs146323738 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:92905714C>T uc001yak.2 + 4 327 c.303C>T c.(301-303)TGC>TGT p.C101C SLC24A4_uc001yai.2_Silent_p.C54C|SLC24A4_uc010twm.1_Silent_p.C118C|SLC24A4_uc001yaj.2_Silent_p.C101C|SLC24A4_uc010auj.2_Silent_p.C9C NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 118 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCATAGTGTGCGATGACTTCT 0.527 RIN3 79890 broad.mit.edu 37 14 93125676 93125676 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:93125676G>A uc001yap.2 + 7 2349 c.2197G>A c.(2197-2199)GTG>ATG p.V733M RIN3_uc010auk.2_Missense_Mutation_p.V395M|RIN3_uc001yaq.2_Missense_Mutation_p.V658M|RIN3_uc001yar.1_Missense_Mutation_p.V395M|RIN3_uc001yas.1_Missense_Mutation_p.V395M NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 733 VPS9. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) GACCACCAGCGTGCCGGAGGT 0.557 KIAA1409 57578 broad.mit.edu 37 14 94158100 94158100 + Silent SNP C C T rs151304420 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:94158100C>T uc001ybv.1 + 45 7013 c.6930C>T c.(6928-6930)TCC>TCT p.S2310S KIAA1409_uc001ybs.1_Silent_p.S2288S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2465 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TTCAGACCTCCGTGCTGCACA 0.552 SERPINA6 866 broad.mit.edu 37 14 94776106 94776106 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:94776106G>A uc001ycv.2 - 3 955 c.851C>T c.(850-852)ACG>ATG p.T284M SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 284 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CCTGTTAATCGTGTCCCGGCT 0.552 C14orf49 161176 broad.mit.edu 37 14 95921913 95921913 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:95921913C>T uc001yei.3 - 5 953 c.938G>A c.(937-939)CGC>CAC p.R313H C14orf49_uc010avi.2_Missense_Mutation_p.R313H|C14orf49_uc001yej.1_Missense_Mutation_p.R313H NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 313 Spectrin 1.|Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CCAGAGGGCGCGCAGCTTCTC 0.617 C14orf49 161176 broad.mit.edu 37 14 95923557 95923557 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:95923557C>T uc001yei.3 - 4 761 c.746G>A c.(745-747)CGG>CAG p.R249Q C14orf49_uc010avi.2_Missense_Mutation_p.R249Q|C14orf49_uc001yej.1_Missense_Mutation_p.R249Q NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 249 Spectrin 1.|Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CTTGCAGTTCCGCCCCAGGCA 0.627 C14orf129 51527 broad.mit.edu 37 14 96851949 96851949 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:96851949C>T uc001yfj.3 + 4 493 c.348C>T c.(346-348)CCC>CCT p.P116P C14orf129_uc001yfl.2_Silent_p.P116P NM_016472 NP_057556 Q9P0R6 GSKIP_HUMAN chromosome 14 open reading frame 129 116 Interaction with GSK3B. cytoplasm protein binding 0 Melanoma(154;0.226) Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205) CACTCAGCCCCGCCTACCGAG 0.463 PAPOLA 10914 broad.mit.edu 37 14 96986463 96986463 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:96986463G>A uc001yfq.2 + 2 290 c.80G>A c.(79-81)AGC>AAC p.S27N PAPOLA_uc001yfo.2_Missense_Mutation_p.S27N|PAPOLA_uc001yfp.2_Missense_Mutation_p.S27N|PAPOLA_uc001yfr.2_Missense_Mutation_p.S27N|PAPOLA_uc010twv.1_Missense_Mutation_p.S27N|PAPOLA_uc010avp.2_5'UTR NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 27 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TCTCCTATCAGCTTAGCAGCC 0.443 CCNK 8812 broad.mit.edu 37 14 99969288 99969288 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:99969288G>T uc001ygi.3 + 8 1108 c.978G>T c.(976-978)CAG>CAT p.Q326H CCNK_uc001ygg.3_Intron NM_001099402 NP_001092872 O75909 CCNK_HUMAN cyclin K isoform 1 326 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding 0 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) CCTCTCCGCAGCCCAGTTCTC 0.632 WARS 7453 broad.mit.edu 37 14 100808882 100808882 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:100808882G>A uc001yhf.1 - 8 1050 c.966C>T c.(964-966)GAC>GAT p.D322D WARS_uc001yhe.1_Silent_p.D128D|WARS_uc001yhg.1_Silent_p.D322D|WARS_uc001yhh.1_Silent_p.D322D|WARS_uc001yhi.1_Silent_p.D281D|WARS_uc001yhj.1_Silent_p.D281D|WARS_uc001yhk.1_Silent_p.D281D|WARS_uc001yhl.1_Silent_p.D322D NM_173701 NP_776049 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase isoform a 322 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(1) 1 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TGGGGGCGACGTCCCTTGTCA 0.587 XRCC3 7517 broad.mit.edu 37 14 104165790 104165790 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:104165790C>T uc001yny.3 - 8 1065 c.685G>A c.(685-687)GCC>ACC p.A229T KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Missense_Mutation_p.A229T|XRCC3_uc001ynz.3_Missense_Mutation_p.A229T|XRCC3_uc001yoa.3_Missense_Mutation_p.A229T NM_005432 NP_005423 O43542 XRCC3_HUMAN X-ray repair cross complementing protein 3 229 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) GCCCTGGGGGCGGAGGCCTGG 0.642 Direct_reversal_of_damage|Homologous_recombination AHNAK2 113146 broad.mit.edu 37 14 105414613 105414613 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:105414613G>A uc010axc.1 - 7 7295 c.7175C>T c.(7174-7176)CCG>CTG p.P2392L AHNAK2_uc001ypx.2_Missense_Mutation_p.P2292L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2392 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCTCCCTCCGGCACGGGGCC 0.622 GPR132 29933 broad.mit.edu 37 14 105517868 105517868 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:105517868G>T uc001yqd.2 - 4 1505 c.606C>A c.(604-606)GCC>GCA p.A202A GPR132_uc001yqc.2_Silent_p.A14A|GPR132_uc001yqe.2_Silent_p.A193A NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 202 Helical; Name=5; (Potential). response to stress integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) CGGTGAACCTGGCGTAGTAGT 0.562 BTBD6 90135 broad.mit.edu 37 14 105716569 105716569 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:105716569C>T uc010tyq.1 + 5 1126 c.1018C>T c.(1018-1020)CGA>TGA p.R340* BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank NM_033271 NP_150374 Q96KE9 BTBD6_HUMAN BTB domain protein BDPL 340 cytoplasmic mRNA processing body 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) GAGGTGCCACCGATTCCAGTC 0.617 NIPA1 123606 broad.mit.edu 37 15 23048857 23048857 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:23048857A>G uc001yvc.2 - 5 987 c.962T>C c.(961-963)ATG>ACG p.M321T NIPA1_uc001yvd.2_Missense_Mutation_p.M151T|NIPA1_uc001yve.2_Missense_Mutation_p.M246T NM_144599 NP_653200 Q7RTP0 NIPA1_HUMAN non-imprinted in Prader-Willi/Angelman syndrome 321 Cytoplasmic (Potential). cell death early endosome|integral to membrane|plasma membrane 0 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) AGATTTGTTCATCTCCCCAAG 0.468 NIPA1 123606 broad.mit.edu 37 15 23048996 23048996 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:23048996C>T uc001yvc.2 - 5 848 c.823G>A c.(823-825)GCC>ACC p.A275T NIPA1_uc001yvd.2_Missense_Mutation_p.A105T|NIPA1_uc001yve.2_Missense_Mutation_p.A200T NM_144599 NP_653200 Q7RTP0 NIPA1_HUMAN non-imprinted in Prader-Willi/Angelman syndrome 275 Helical; (Potential). cell death early endosome|integral to membrane|plasma membrane 0 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) ATGGCTGAGGCCAGCAGGACC 0.587 NIPA1 123606 broad.mit.edu 37 15 23049218 23049218 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:23049218A>C uc001yvc.2 - 5 626 c.601T>G c.(601-603)TTC>GTC p.F201V NIPA1_uc001yvd.2_Missense_Mutation_p.F31V|NIPA1_uc001yve.2_Missense_Mutation_p.F126V NM_144599 NP_653200 Q7RTP0 NIPA1_HUMAN non-imprinted in Prader-Willi/Angelman syndrome 201 Helical; (Potential). cell death early endosome|integral to membrane|plasma membrane 0 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) GGCACGGTGAAACTGCCCAGC 0.602 NDN 4692 broad.mit.edu 37 15 23932081 23932081 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:23932081G>A uc001ywk.2 - 1 370 c.284C>T c.(283-285)CCG>CTG p.P95L NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 95 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CAGCTGCGCCGGGGCTGGCGG 0.677 Prader-Willi_syndrome GABRG3 2567 broad.mit.edu 37 15 27777969 27777969 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:27777969T>C uc001zbg.1 + 10 1512 c.1346T>C c.(1345-1347)TTC>TCC p.F449S NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 449 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CGGGTCTTTTTCCCCACGTCC 0.473 OCA2 4948 broad.mit.edu 37 15 28090167 28090167 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:28090167G>A uc001zbh.3 - 23 2480 c.2370C>T c.(2368-2370)AAC>AAT p.N790N OCA2_uc010ayv.2_Silent_p.N766N NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 790 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CACACACGACGTTTGCCGACG 0.398 Oculocutaneous_Albinism APBA2 321 broad.mit.edu 37 15 29346438 29346438 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:29346438C>T uc001zck.2 + 3 558 c.351C>T c.(349-351)AAC>AAT p.N117N APBA2_uc010azj.2_Silent_p.N117N|APBA2_uc010uat.1_Silent_p.N117N|APBA2_uc001zcl.2_Silent_p.N117N|APBA2_uc010uas.1_Silent_p.N117N NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 117 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TGGACTGCAACGGGGAGGAGT 0.647 RYR3 6263 broad.mit.edu 37 15 33873743 33873743 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:33873743G>A uc001zhi.2 + 14 1542 c.1472G>A c.(1471-1473)CGC>CAC p.R491H RYR3_uc010bar.2_Missense_Mutation_p.R491H NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 491 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGCATTGACCGCTTAAATGTC 0.438 EIF2AK4 440275 broad.mit.edu 37 15 40308866 40308866 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:40308866A>G uc001zkm.1 + 28 3973 c.3923A>G c.(3922-3924)AAG>AGG p.K1308R EIF2AK4_uc010bbj.1_Missense_Mutation_p.K1009R|EIF2AK4_uc001zkn.1_Missense_Mutation_p.K408R|EIF2AK4_uc001zko.1_Intron|EIF2AK4_uc010bbk.1_RNA NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 1308 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CTCGGCATCAAGTTACAGGTT 0.378 FAM82A2 55177 broad.mit.edu 37 15 41029864 41029864 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:41029864T>C uc001zmo.1 - 10 1330 c.1186A>G c.(1186-1188)AGT>GGT p.S396G FAM82A2_uc001zmp.1_Missense_Mutation_p.S396G|FAM82A2_uc001zmq.1_Missense_Mutation_p.S396G NM_018145 NP_060615 Q96TC7 RMD3_HUMAN family with sequence similarity 82, member A2 396 apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding 0 ACAGTGGCACTGAGAGGGCTT 0.468 INO80 54617 broad.mit.edu 37 15 41362706 41362706 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:41362706T>C uc001zni.2 - 13 1858 c.1645A>G c.(1645-1647)AAA>GAA p.K549E INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 549 ATP (By similarity).|Helicase ATP-binding.|Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TGTACTGTTTTACCAAGGCCC 0.403 ITPKA 3706 broad.mit.edu 37 15 41794637 41794637 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:41794637C>T uc001znz.2 + 5 1057 c.1046C>T c.(1045-1047)ACG>ATG p.T349M NM_002220 NP_002211 P23677 IP3KA_HUMAN 1D-myo-inositol-trisphosphate 3-kinase A 349 signal transduction ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TTCAAGACTACGCGAAGCCGA 0.607 VPS39 23339 broad.mit.edu 37 15 42459039 42459039 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:42459039C>T uc001zpd.2 - 15 1634 c.1483G>A c.(1483-1485)GTG>ATG p.V495M VPS39_uc001zpc.2_Missense_Mutation_p.V484M|VPS39_uc001zpb.2_5'Flank NM_015289 NP_056104 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 495 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) TTCTTTAGCACGTGCTCGCTC 0.542 ZFP106 64397 broad.mit.edu 37 15 42743481 42743481 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:42743481G>T uc001zpw.2 - 2 1255 c.920C>A c.(919-921)CCT>CAT p.P307H ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.P90H|ZFP106_uc001zpy.1_Missense_Mutation_p.P330H NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 307 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) GCCTTCTGAAGGAAATTTATC 0.413 DUOX2 50506 broad.mit.edu 37 15 45388103 45388103 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:45388103C>T uc010bea.2 - 30 4206 c.4003G>A c.(4003-4005)GCA>ACA p.A1335T DUOX2_uc001zun.2_Missense_Mutation_p.A1335T NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1335 Cytoplasmic (Potential).|FAD-binding FR-type. 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 calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 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) GGCCCCACTGCCCGGATGTGC 0.647 FBN1 2200 broad.mit.edu 37 15 48752456 48752456 + Silent SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:48752456G>C uc001zwx.1 - 43 5611 c.5283C>G c.(5281-5283)ACC>ACG p.T1761T FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1761 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGGGTAAACCGGTATAAATGT 0.418 NEDD4 4734 broad.mit.edu 37 15 56134223 56134223 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:56134223A>T uc002adj.2 - 15 3304 c.3004T>A c.(3004-3006)TTG>ATG p.L1002M NEDD4_uc002adl.2_Missense_Mutation_p.L583M|NEDD4_uc002adi.2_Missense_Mutation_p.L930M|NEDD4_uc010ugj.1_Missense_Mutation_p.L986M|NEDD4_uc010bfm.2_Missense_Mutation_p.L985M|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 1002 HECT. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CCATAATCCAATCCCTTTTCA 0.423 VPS13C 54832 broad.mit.edu 37 15 62209578 62209578 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:62209578G>T uc002agz.2 - 60 8091 c.8017C>A c.(8017-8019)CGG>AGG p.R2673R VPS13C_uc002aha.2_Silent_p.R2630R|VPS13C_uc002ahb.1_Silent_p.R2673R|VPS13C_uc002ahc.1_Silent_p.R2630R|VPS13C_uc002ahd.1_Silent_p.R50R NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2673 protein localization ovary(2) 2 AGAAGATTCCGCAAAGTGAGA 0.363 TLN2 83660 broad.mit.edu 37 15 63000709 63000709 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:63000709C>T uc002alb.3 + 18 2181 c.2181C>T c.(2179-2181)AGC>AGT p.S727S NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 727 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AGGTTGTGAGCCCCACTATTA 0.597 PARP16 54956 broad.mit.edu 37 15 65553245 65553245 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:65553245A>G uc002aoo.2 - 5 1065 c.811T>C c.(811-813)TAT>CAT p.Y271H PARP16_uc002aop.2_Missense_Mutation_p.Y156H|PARP16_uc002aoq.2_Missense_Mutation_p.Y271H NM_017851 NP_060321 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 271 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity lung(2) 2 TTCTGTGAATACACCAGGAGG 0.498 GLCE 26035 broad.mit.edu 37 15 69561347 69561347 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:69561347C>T uc002ary.1 + 5 1846 c.1618C>T c.(1618-1620)CGT>TGT p.R540C NM_015554 NP_056369 O94923 GLCE_HUMAN D-glucuronyl C5-epimerase 540 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity ovary(2) 2 CTTGTATGAGCGTGGCATGGA 0.433 LRRC49 54839 broad.mit.edu 37 15 71276445 71276445 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:71276445T>C uc002asw.2 + 11 1265 c.1018T>C c.(1018-1020)TTA>CTA p.L340L LRRC49_uc002asu.2_Silent_p.L330L|LRRC49_uc002asx.2_Silent_p.L296L|LRRC49_uc010ukf.1_Silent_p.L345L|LRRC49_uc002asy.2_Silent_p.L46L|LRRC49_uc002asz.2_Silent_p.L312L NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 340 Potential. cytoplasm|microtubule ovary(1) 1 GAAGAAAAGGTTAACAATTAA 0.363 THSD4 79875 broad.mit.edu 37 15 72063445 72063445 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:72063445C>T uc002atb.1 + 16 2891 c.2812C>T c.(2812-2814)CGG>TGG p.R938W THSD4_uc002ate.2_Missense_Mutation_p.R578W|THSD4_uc002atg.1_Missense_Mutation_p.R141W NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 938 TSP type-1 6. proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 CCGGGAAGTGCGGTGTCTGTC 0.502 PKM2 5315 broad.mit.edu 37 15 72501132 72501132 + Silent SNP C C T rs11558356 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:72501132C>T uc002atx.1 - 6 907 c.666G>A c.(664-666)TCG>TCA p.S222S PKM2_uc002ats.1_5'Flank|PKM2_uc002att.1_5'UTR|PKM2_uc002atu.1_5'UTR|PKM2_uc010bit.1_Silent_p.S227S|PKM2_uc010uki.1_Silent_p.S296S|PKM2_uc002atv.1_Silent_p.S257S|PKM2_uc002atw.1_Silent_p.S222S|PKM2_uc002aty.1_Silent_p.S222S|PKM2_uc010ukj.1_Silent_p.S207S|PKM2_uc010ukk.1_Silent_p.S148S|PKM2_uc010biu.1_Silent_p.S243S|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 222 glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) TGTCCTTCTCCGACACAGCAG 0.542 CSPG4 1464 broad.mit.edu 37 15 75981164 75981164 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:75981164G>A uc002baw.2 - 3 2335 c.2242C>T c.(2242-2244)CCA>TCA p.P748S NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 748 CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 TGGTGCTGTGGGTCAGTGCTC 0.652 CIB2 10518 broad.mit.edu 37 15 78401632 78401632 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:78401632C>T uc002bdb.1 - 4 612 c.291G>A c.(289-291)GTG>GTA p.V97V CIB2_uc002bdc.1_Silent_p.V54V|CIB2_uc010ums.1_Silent_p.V97V NM_006383 NP_006374 O75838 CIB2_HUMAN DNA-dependent protein kinase catalytic 97 EF-hand 1. calcium ion binding 0 ACTCGCAGAGCACGGAAAACA 0.537 RASGRF1 5923 broad.mit.edu 37 15 79264215 79264215 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:79264215T>C uc002beq.2 - 27 4097 c.3722A>G c.(3721-3723)CAA>CGA p.Q1241R RASGRF1_uc002bep.2_Missense_Mutation_p.Q1225R|RASGRF1_uc002beo.2_Missense_Mutation_p.Q457R NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 1243 Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TACCTTTGCTTGGTGCTCTAT 0.488 AP3B2 8120 broad.mit.edu 37 15 83346060 83346060 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:83346060A>T uc010uoh.1 - 13 1631 c.1454T>A c.(1453-1455)ATC>AAC p.I485N AP3B2_uc010uoi.1_Missense_Mutation_p.I485N|AP3B2_uc010uoj.1_Missense_Mutation_p.I453N|AP3B2_uc010uog.1_Missense_Mutation_p.I121N NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 485 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CAAGTGTTTGATGATCTCTCC 0.448 FSD2 123722 broad.mit.edu 37 15 83430979 83430979 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:83430979C>A uc002bjd.2 - 12 2039 c.1872G>T c.(1870-1872)TGG>TGT p.W624C FSD2_uc010uol.1_Missense_Mutation_p.W579C|FSD2_uc010uom.1_Missense_Mutation_p.W579C NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 624 B30.2/SPRY. central_nervous_system(1) 1 CCTCCACCTCCCAGTAATGGT 0.522 ZNF774 342132 broad.mit.edu 37 15 90904478 90904478 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:90904478C>T uc002bpk.3 + 4 1601 c.1415C>T c.(1414-1416)GCG>GTG p.A472V NM_001004309 NP_001004309 Q6NX45 ZN774_HUMAN zinc finger protein 774 472 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CGTCAGAAAGCGCATCTTTTA 0.433 SYNM 23336 broad.mit.edu 37 15 99670499 99670499 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:99670499G>A uc002bup.2 + 6 2054 c.1934G>A c.(1933-1935)AGT>AAT p.S645N SYNM_uc002buo.2_Missense_Mutation_p.S645N|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 645 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 ATCGTTACCAGTATCCTGAAG 0.493 MSLNL 401827 broad.mit.edu 37 16 830412 830412 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:830412C>T uc002cjz.1 - 3 589 c.589G>A c.(589-591)GTG>ATG p.V197M NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like Error:Variant_position_missing_in_Q96KJ4_after_alignment cell adhesion integral to membrane breast(3)|ovary(1) 4 ACAGTGTGCACGTGTAAGTGA 0.592 TELO2 9894 broad.mit.edu 37 16 1551487 1551487 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:1551487G>A uc002cly.2 + 10 1639 c.1348G>A c.(1348-1350)GCC>ACC p.A450T NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 450 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) GGGTGACGGCGCCTCGGAGGC 0.687 CRAMP1L 57585 broad.mit.edu 37 16 1709952 1709952 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:1709952G>A uc010uvh.1 + 10 2301 c.2301G>A c.(2299-2301)ACG>ACA p.T767T CRAMP1L_uc002cmf.2_RNA NM_020825 NP_065876 Q96RY5 CRML_HUMAN Crm, cramped-like 767 nucleus DNA binding 0 AGTCGATGACGCCCCCAGGGA 0.627 RPL3L 6123 broad.mit.edu 37 16 2004000 2004000 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:2004000C>T uc002cnh.2 - 2 200 c.153G>A c.(151-153)GCG>GCA p.A51A NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 51 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 GGGTCATGCCCGCCTTGTAGC 0.687 CCDC64B 146439 broad.mit.edu 37 16 3085468 3085468 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:3085468C>T uc002ctf.3 - 1 75 c.30G>A c.(28-30)CCG>CCA p.P10P CCDC64B_uc002cte.3_5'Flank NM_001103175 NP_001096645 A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 10 0 GCGGCCCGGACGGGAAGCTGG 0.692 ZNF205 7755 broad.mit.edu 37 16 3169295 3169295 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:3169295G>A uc002cub.2 + 7 769 c.634G>A c.(634-636)GTG>ATG p.V212M ZNF205_uc002cua.2_Missense_Mutation_p.V212M NM_001042428 NP_001035893 O95201 ZN205_HUMAN zinc finger protein 205 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 GACCTCATCCGTGGCAGCCCT 0.642 BTBD12 84464 broad.mit.edu 37 16 3640549 3640549 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:3640549C>T uc002cvp.2 - 12 3717 c.3090G>A c.(3088-3090)CCG>CCA p.P1030P NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1030 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 GGCACGGGTGCGGTGGAGATG 0.652 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia BTBD12 84464 broad.mit.edu 37 16 3658536 3658536 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:3658536G>A uc002cvp.2 - 2 1057 c.430C>T c.(430-432)CTT>TTT p.L144F BTBD12_uc002cvq.1_Missense_Mutation_p.L144F NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 144 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 GCAGAGGCAAGCACACCCCCC 0.557 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia C16orf5 29965 broad.mit.edu 37 16 4562627 4562627 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:4562627C>T uc002cwu.2 - 5 868 c.573G>A c.(571-573)ACG>ACA p.T191T C16orf5_uc002cwv.2_Silent_p.T191T|C16orf5_uc002cww.2_Silent_p.T191T|C16orf5_uc010uxl.1_Silent_p.T152T|C16orf5_uc010uxm.1_Silent_p.T112T|C16orf5_uc010btu.2_RNA NM_013399 NP_037531 Q9H305 LITFL_HUMAN cell death inducing protein 191 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway nucleus ovary(1) 1 Ovarian(90;0.17) GGCATGTGTGCGTCACATCCT 0.592 MGRN1 23295 broad.mit.edu 37 16 4723609 4723609 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:4723609C>T uc002cwz.2 + 10 1042 c.906C>T c.(904-906)TGC>TGT p.C302C MGRN1_uc002cxa.2_Silent_p.C302C|MGRN1_uc010btx.2_Silent_p.C303C|MGRN1_uc010btw.2_Silent_p.C303C|MGRN1_uc002cxb.2_Silent_p.C341C|MGRN1_uc010uxo.1_Silent_p.C302C|MGRN1_uc010uxp.1_Silent_p.C302C|MGRN1_uc010uxq.1_RNA NM_001142290 NP_001135762 O60291 MGRN1_HUMAN mahogunin, ring finger 1 isoform 3 302 RING-type. endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 GTACCTCCTGCGCCGACACGC 0.632 USP7 7874 broad.mit.edu 37 16 8987926 8987926 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:8987926C>T uc002czl.2 - 31 3437 c.3238G>A c.(3238-3240)GAC>AAC p.D1080N USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.D981N|USP7_uc002czk.2_Missense_Mutation_p.D1064N NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 1080 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 TTGAAGTGGTCGAGCCCTAGC 0.522 CIITA 4261 broad.mit.edu 37 16 11017143 11017143 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:11017143C>T uc002dai.3 + 19 3509 c.3376C>T c.(3376-3378)CGG>TGG p.R1126W CIITA_uc002daj.3_Missense_Mutation_p.R1127W|CIITA_uc002dak.3_Missense_Mutation_p.R542W NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 1126 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 ACAGGATTCACGGATCAGCCT 0.592 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| SNX29 92017 broad.mit.edu 37 16 12162983 12162983 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:12162983G>A uc002dby.3 + 3 214 c.158G>A c.(157-159)CGG>CAG p.R53Q SNX29_uc010uyx.1_Missense_Mutation_p.R80Q NM_001080530 NP_001073999 Q8TEQ0 SNX29_HUMAN sorting nexin 29 53 cell communication phosphatidylinositol binding ovary(1) 1 CCTGGACTTCGGTACAGGTTA 0.483 PDILT 204474 broad.mit.edu 37 16 20386166 20386166 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:20386166T>A uc002dhc.1 - 5 882 c.659A>T c.(658-660)GAC>GTC p.D220V NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 220 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 CAGGACGCTGTCAAGGGTGAC 0.378 DNAH3 55567 broad.mit.edu 37 16 20974905 20974905 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:20974905C>T uc010vbe.1 - 53 10301 c.10301G>A c.(10300-10302)GGC>GAC p.G3434D DNAH3_uc010vbd.1_Missense_Mutation_p.G869D NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3434 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CTCCATCAGGCCATGCAGTTT 0.547 EARS2 124454 broad.mit.edu 37 16 23563615 23563615 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:23563615G>A uc002dlt.3 - 2 182 c.150C>T c.(148-150)CAC>CAT p.H50H EARS2_uc002dlr.3_5'Flank|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Silent_p.H50H NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2 precursor 50 HIGH region. ATP (By similarity). glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding 0 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) GGCCACCCAGGTGCAAGAAGC 0.507 RBBP6 5930 broad.mit.edu 37 16 24581665 24581665 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:24581665A>C uc002dmh.2 + 17 4694 c.3654A>C c.(3652-3654)AAA>AAC p.K1218N RBBP6_uc010vcb.1_Missense_Mutation_p.K1085N|RBBP6_uc002dmi.2_Missense_Mutation_p.K1184N|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.K1051N NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1218 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) CTGGGAAGAAAATTGGAAGTA 0.348 GTF3C1 2975 broad.mit.edu 37 16 27503681 27503681 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:27503681G>A uc002dov.1 - 19 3169 c.3129C>T c.(3127-3129)TGC>TGT p.C1043C GTF3C1_uc002dou.2_Silent_p.C1043C NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1043 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TGAGGCAGACGCACTGCAGGT 0.552 DOC2A 8448 broad.mit.edu 37 16 30018218 30018218 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:30018218G>A uc002dvm.2 - 8 866 c.766C>T c.(766-768)CTG>TTG p.L256L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Silent_p.L254L|DOC2A_uc002dvn.2_Silent_p.L256L|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Silent_p.L256L|DOC2A_uc002dvp.2_Silent_p.L256L|DOC2A_uc002dvq.2_Silent_p.L256L NM_003586 NP_003577 Q14183 DOC2A_HUMAN double C2-like domains, alpha 256 C2 2.|Interaction with UNC13D. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity ovary(2) 2 AGACTCAGCAGGATGCGGCCA 0.692 ITGAX 3687 broad.mit.edu 37 16 31373185 31373185 + Silent SNP C C T rs138230749 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:31373185C>T uc002ebu.1 + 10 1108 c.1041C>T c.(1039-1041)TTC>TTT p.F347F ITGAX_uc002ebt.2_Silent_p.F347F|ITGAX_uc010vfk.1_5'UTR NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 347 FG-GAP 3.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTAGCTCCTTCGAATTGGAGA 0.602 TGFB1I1 7041 broad.mit.edu 37 16 31485238 31485238 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:31485238G>A uc002ecd.1 + 4 291 c.265G>A c.(265-267)GGG>AGG p.G89R TGFB1I1_uc002ece.1_Missense_Mutation_p.G72R|TGFB1I1_uc010caq.1_5'UTR NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 89 Transcription activation (By similarity).|Interaction with PTK2 (By similarity).|Interaction with PTK2B. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 CTTGGGTACCGGGCTCTGTGA 0.592 SLC5A2 6524 broad.mit.edu 37 16 31500366 31500366 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:31500366G>T uc002ecf.3 + 11 1465 c.1446G>T c.(1444-1446)GAG>GAT p.E482D SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 482 Extracellular (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 GCGTTAATGAGCAGGTGAGCG 0.652 VPS35 55737 broad.mit.edu 37 16 46705645 46705645 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:46705645C>T uc002eef.3 - 12 1595 c.1496G>A c.(1495-1497)CGC>CAC p.R499H VPS35_uc002eed.2_Missense_Mutation_p.R320H|VPS35_uc002eee.2_Missense_Mutation_p.R460H NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 499 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GTCCTCAGAGCGCAGCAGATG 0.463 ADCY7 113 broad.mit.edu 37 16 50347950 50347950 + Missense_Mutation SNP G G A rs150764665 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:50347950G>A uc002egd.1 + 22 3101 c.2833G>A c.(2833-2835)GTC>ATC p.V945I NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 945 Cytoplasmic (Potential).|Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) AGGGCTCAGCGTCGCCTCAGG 0.552 OGFOD1 55239 broad.mit.edu 37 16 56485619 56485619 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:56485619A>G uc002ejb.2 + 1 196 c.95A>G c.(94-96)GAA>GGA p.E32G OGFOD1_uc002ejc.2_Intron|NUDT21_uc002eja.2_5'Flank NM_018233 NP_060703 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase 32 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1) 1 Vitamin C(DB00126) GCTGTTACGGAAGAAACCTTG 0.622 NUP93 9688 broad.mit.edu 37 16 56864512 56864512 + Missense_Mutation SNP G G A rs145578512 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:56864512G>A uc002eka.2 + 10 1121 c.1000G>A c.(1000-1002)GCT>ACT p.A334T NUP93_uc002ekb.2_Missense_Mutation_p.A211T|NUP93_uc010vhi.1_Missense_Mutation_p.A211T NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 334 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 CCTGCTTGCCGCTTCACAGGT 0.502 DOK4 55715 broad.mit.edu 37 16 57509501 57509501 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:57509501G>A uc010cdb.2 - 3 504 c.206C>T c.(205-207)ACG>ATG p.T69M DOK4_uc002elu.1_Missense_Mutation_p.T69M|DOK4_uc002elv.3_Missense_Mutation_p.T69M NM_018110 NP_060580 Q8TEW6 DOK4_HUMAN docking protein 4 69 PH. insulin receptor binding skin(1) 1 GGGGAGCCGCGTAACACACTT 0.502 KATNB1 10300 broad.mit.edu 37 16 57789830 57789830 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:57789830G>A uc002eml.1 + 17 2017 c.1643_splice c.e17+1 p.A548_splice NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) ACCAGAAAGCGTAAGTGGCTG 0.622 PRSS54 221191 broad.mit.edu 37 16 58318533 58318533 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:58318533G>A uc002enf.2 - 6 1010 c.615C>T c.(613-615)TGC>TGT p.C205C PRSS54_uc002eng.2_Silent_p.C205C|PRSS54_uc010vie.1_Silent_p.C106C NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 205 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TGTGGCTGCCGCATTCTGTCT 0.473 NDRG4 65009 broad.mit.edu 37 16 58537768 58537768 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:58537768C>T uc002eno.2 + 2 194 c.88C>T c.(88-90)CGC>TGC p.R30C NDRG4_uc002enk.2_Missense_Mutation_p.R62C|NDRG4_uc002enm.2_Missense_Mutation_p.R82C|NDRG4_uc010vif.1_Missense_Mutation_p.R62C|NDRG4_uc010cdk.2_Missense_Mutation_p.R30C|NDRG4_uc010vig.1_Missense_Mutation_p.R60C|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Missense_Mutation_p.R48C|NDRG4_uc002enp.2_Missense_Mutation_p.R30C|NDRG4_uc002enq.1_5'Flank NM_022910 NP_075061 Q9ULP0 NDRG4_HUMAN NDRG family member 4 isoform 1 30 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm skin(1) 1 CAAGGGGAACCGCCCAGCCAT 0.627 CMTM4 146223 broad.mit.edu 37 16 66670346 66670346 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:66670346G>T uc002epz.2 - 2 507 c.325C>A c.(325-327)CTG>ATG p.L109M CMTM4_uc002eqa.2_Missense_Mutation_p.L109M NM_178818 NP_848933 Q8IZR5 CKLF4_HUMAN chemokine-like factor superfamily 4 isoform 1 109 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity pancreas(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214) CTCATGTGCAGGTTGAGACTG 0.517 B3GNT9 84752 broad.mit.edu 37 16 67183705 67183705 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:67183705G>A uc002erf.2 - 2 1005 c.684C>T c.(682-684)GGC>GGT p.G228G uc002erg.1_Silent_p.S36S NM_033309 NP_171608 Q6UX72 B3GN9_HUMAN UDP-GlcNAc:betaGal 228 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 CATCTGCGTCGCCCTTAAAAA 0.577 ELMO3 79767 broad.mit.edu 37 16 67235944 67235944 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:67235944T>C uc002esa.2 + 12 1317 c.1274T>C c.(1273-1275)TTG>TCG p.L425S ELMO3_uc002esb.2_Missense_Mutation_p.L408S|ELMO3_uc002esc.2_Missense_Mutation_p.L259S NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 372 ELMO. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GACAACATGTTGTACTTCTCC 0.662 SLC9A5 6553 broad.mit.edu 37 16 67290816 67290816 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:67290816G>A uc002esm.2 + 7 1198 c.1135G>A c.(1135-1137)GTA>ATA p.V379I SLC9A5_uc010cee.2_Missense_Mutation_p.V84I|SLC9A5_uc010vji.1_5'UTR NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 379 Helical; (Potential). regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGCTGTAGGCGTAGTCCTGCA 0.622 PRMT7 54496 broad.mit.edu 37 16 68373230 68373230 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:68373230T>A uc002evy.1 + 8 786 c.510T>A c.(508-510)AAT>AAA p.N170K PRMT7_uc002evx.1_Missense_Mutation_p.N170K|PRMT7_uc010vlg.1_Missense_Mutation_p.N120K|PRMT7_uc002evz.1_Missense_Mutation_p.N16K NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 170 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CTTAGGAAAATTGTGAGGCCG 0.443 CHTF8 54921 broad.mit.edu 37 16 69155070 69155070 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:69155070C>T uc002ewn.1 - 3 128 c.27G>A c.(25-27)GCG>GCA p.A9A CHTF8_uc002ewm.1_5'UTR|CHTF8_uc002ewo.1_5'UTR|CHTF8_uc002ewp.1_Silent_p.A9A NM_001040146 NP_001035236 P0CG13 CTF8_HUMAN chromosome transmission fidelity factor 8 9 cell cycle|DNA replication nucleus DNA binding 0 CTCCAGCCCTCGCACTGCAAG 0.547 NFAT5 10725 broad.mit.edu 37 16 69681374 69681374 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:69681374C>T uc002exm.1 + 3 1851 c.643C>T c.(643-645)CGA>TGA p.R215* NFAT5_uc002exh.1_Intron|NFAT5_uc002exi.2_Nonsense_Mutation_p.R139*|NFAT5_uc002exj.1_Nonsense_Mutation_p.R139*|NFAT5_uc002exk.1_Nonsense_Mutation_p.R139*|NFAT5_uc002exl.1_Nonsense_Mutation_p.R233*|NFAT5_uc002exn.1_Nonsense_Mutation_p.R233* NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 215 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 GGTCAAACGACGAGATTGTGA 0.448 DHX38 9785 broad.mit.edu 37 16 72141255 72141255 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:72141255G>A uc002fcb.2 + 20 2972 c.2617G>A c.(2617-2619)GCC>ACC p.A873T DHX38_uc010vmp.1_Missense_Mutation_p.A185T NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 873 Helicase C-terminal. 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) CACCCAGAGCGCCTACAAGAA 0.592 ZFHX3 463 broad.mit.edu 37 16 72834006 72834006 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:72834006A>G uc002fck.2 - 8 4560 c.3887T>C c.(3886-3888)ATG>ACG p.M1296T ZFHX3_uc002fcl.2_Missense_Mutation_p.M382T NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1296 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) GCTGCTTGGCATCACCATCTC 0.443 ZFHX3 463 broad.mit.edu 37 16 72993954 72993954 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:72993954G>T uc002fck.2 - 2 764 c.91C>A c.(91-93)CAC>AAC p.H31N ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 31 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) TCAGGGAGGTGGGTGCTGTTG 0.622 WWOX 51741 broad.mit.edu 37 16 79245555 79245555 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:79245555G>A uc002ffk.2 + 9 1232 c.1107G>A c.(1105-1107)GAG>GAA p.E369E WWOX_uc010vnk.1_Silent_p.E256E|WWOX_uc002ffl.2_Silent_p.E189E|WWOX_uc010che.2_Missense_Mutation_p.G154R NM_016373 NP_057457 Q9NZC7 WWOX_HUMAN WW domain-containing oxidoreductase isoform 1 369 Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity 0 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) CAGAACTGGAGGGTCTGGGAG 0.537 CDYL2 124359 broad.mit.edu 37 16 80638416 80638416 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:80638416G>A uc002ffs.2 - 7 1495 c.1390C>T c.(1390-1392)CGG>TGG p.R464W NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 464 nucleus catalytic activity|protein binding central_nervous_system(1) 1 AGGAAGCTCCGCACGAGGCAT 0.547 GAN 8139 broad.mit.edu 37 16 81398967 81398967 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:81398967G>A uc002fgo.2 + 9 1534 c.1386G>A c.(1384-1386)GTG>GTA p.V462V NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin 462 Kelch 4. cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) TTGGAGCGGTGGCCTGTGGAG 0.542 TAF1C 9013 broad.mit.edu 37 16 84217343 84217343 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:84217343C>T uc002fhn.2 - 3 408 c.180G>A c.(178-180)CCG>CCA p.P60P TAF1C_uc002fhm.2_5'UTR|TAF1C_uc010vnx.1_Silent_p.P60P|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.P60P NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 60 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 nucleoplasm DNA binding ovary(1) 1 CAGGGGTTGCCGGCTCCCACA 0.527 FOXF1 2294 broad.mit.edu 37 16 86544680 86544680 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:86544680A>G uc002fjl.2 + 1 548 c.505A>G c.(505-507)ACC>GCC p.T169A uc002fjk.1_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN forkhead box F1 169 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding 0 CCTCCCGGACACCTACGGCTT 0.687 MTHFSD 64779 broad.mit.edu 37 16 86575788 86575788 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:86575788G>A uc002fjn.2 - 6 525 c.474C>T c.(472-474)GCC>GCT p.A158A MTHFSD_uc010voo.1_Silent_p.A138A|MTHFSD_uc002fjo.2_5'UTR|MTHFSD_uc002fjm.2_Silent_p.A157A|MTHFSD_uc010vop.1_5'UTR|MTHFSD_uc010voq.1_Silent_p.A157A|MTHFSD_uc010vor.1_Silent_p.A158A|MTHFSD_uc002fjp.2_Silent_p.A138A NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 158 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 ATTCCAGATCGGCGTAGCCTT 0.567 ZC3H18 124245 broad.mit.edu 37 16 88695190 88695190 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:88695190C>T uc002fky.2 + 16 2694 c.2494C>T c.(2494-2496)CGC>TGC p.R832C ZC3H18_uc010voz.1_Missense_Mutation_p.R856C|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Missense_Mutation_p.R102C NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 832 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) AAGCAGGAAGCGCTATGAACC 0.642 SNAI3 333929 broad.mit.edu 37 16 88748042 88748042 + Missense_Mutation SNP C C T rs45506693 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:88748042C>T uc002flj.2 - 2 225 c.157G>A c.(157-159)GGT>AGT p.G53S MGC23284_uc002fli.3_Intron NM_178310 NP_840101 Q3KNW1 SNAI3_HUMAN snail homolog 3 53 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.048) GGAAGGTCACCGGGCACAGAA 0.687 GLOD4 51031 broad.mit.edu 37 17 679152 679152 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:679152G>A uc002frv.2 - 5 390 c.314C>T c.(313-315)ACG>ATG p.T105M GLOD4_uc002frt.2_Missense_Mutation_p.T34M|GLOD4_uc002fru.2_Missense_Mutation_p.T90M|GLOD4_uc010vqc.1_Missense_Mutation_p.T81M NM_016080 NP_057164 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 105 mitochondrion 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) AGAAGCGAGCGTGATTCCCTA 0.493 YWHAE 7531 broad.mit.edu 37 17 1264466 1264466 + Silent SNP C C T rs146808095 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:1264466C>T uc002fsj.2 - 4 650 c.498G>A c.(496-498)ACG>ACA p.T166T YWHAE_uc002fsk.2_Silent_p.T144T|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_Intron NM_006761 NP_006752 P62258 1433E_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 166 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding lung(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) GAATAGGATGCGTTGGTGGAA 0.463 MYO1C 4641 broad.mit.edu 37 17 1373490 1373490 + Silent SNP C C T rs139792172 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:1373490C>T uc002fsp.2 - 24 2725 c.2505G>A c.(2503-2505)ACG>ACA p.T835T MYO1C_uc002fsn.2_Silent_p.T816T|MYO1C_uc002fso.2_Silent_p.T800T|MYO1C_uc010vqj.1_Silent_p.T800T NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 835 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CAGGTGGGGGCGTGGGCCACG 0.597 RILP 83547 broad.mit.edu 37 17 1549887 1549887 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:1549887G>T uc002ftd.2 - 8 1349 c.1055C>A c.(1054-1056)GCT>GAT p.A352D SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank NM_031430 NP_113618 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 352 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGAGGATTCAGCTTTACCCCG 0.582 WDR81 124997 broad.mit.edu 37 17 1637274 1637274 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:1637274C>T uc002fti.2 + 7 1523 c.1262C>T c.(1261-1263)TCG>TTG p.S421L WDR81_uc002fth.2_Missense_Mutation_p.S597L|WDR81_uc010vqp.1_Missense_Mutation_p.S445L|WDR81_uc002ftj.2_Missense_Mutation_p.S1648L|WDR81_uc010vqq.1_Missense_Mutation_p.S279L NM_001163811 NP_001157283 Q562E7 WDR81_HUMAN WD repeat domain 81 isoform 4 421 skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCGGGCCACTCGGGGGCCGTC 0.637 SRR 63826 broad.mit.edu 37 17 2222212 2222212 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:2222212C>T uc002fue.1 + 4 456 c.388C>T c.(388-390)CCT>TCT p.P130S SRR_uc002fui.1_5'UTR NM_021947 NP_068766 Q9GZT4 SRR_HUMAN serine racemase 130 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity 0 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ATACTGTGAACCTAGTGATGA 0.378 TRPV3 162514 broad.mit.edu 37 17 3432285 3432285 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:3432285C>T uc002fvt.1 - 10 1569 c.1247G>A c.(1246-1248)CGG>CAG p.R416Q TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.R400Q|TRPV3_uc010vri.1_Missense_Mutation_p.R371Q|TRPV3_uc010vrj.1_Missense_Mutation_p.R400Q|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.R400Q|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.R416Q|TRPV3_uc002fvu.2_Missense_Mutation_p.R416Q|TRPV3_uc010vrn.1_5'UTR NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 416 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) CATCTCATGCCGGTTCTAGGG 0.532 ATP2A3 489 broad.mit.edu 37 17 3850844 3850844 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:3850844C>T uc002fxb.1 - 8 1087 c.936G>A c.(934-936)CCG>CCA p.P312P ATP2A3_uc002fwx.1_Silent_p.P312P|ATP2A3_uc002fwy.1_Silent_p.P312P|ATP2A3_uc002fwz.1_Silent_p.P312P|ATP2A3_uc002fxa.1_Silent_p.P312P|ATP2A3_uc002fxc.1_Silent_p.P312P|ATP2A3_uc002fxd.1_Silent_p.P312P NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 312 Helical; Name=4; (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) TGATGACAGCCGGGAGGCCCT 0.697 CAMTA2 23125 broad.mit.edu 37 17 4883674 4883674 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:4883674G>A uc002gah.1 - 9 1051 c.943C>T c.(943-945)CGA>TGA p.R315* CAMTA2_uc010cku.1_Nonsense_Mutation_p.R338*|CAMTA2_uc002gag.1_Nonsense_Mutation_p.R314*|CAMTA2_uc002gai.1_Nonsense_Mutation_p.R317*|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.1_Nonsense_Mutation_p.R128* NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 315 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GAACCCCCTCGAGAAGTGGGA 0.592 OREG0024111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C1QBP 708 broad.mit.edu 37 17 5337060 5337060 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:5337060C>T uc002gby.1 - 4 583 c.505G>A c.(505-507)GTG>ATG p.V169M NM_001212 NP_001203 Q07021 C1QBP_HUMAN complement component 1, q subcomponent binding 169 blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms mitochondrial matrix|nucleus|plasma membrane ovary(1) 1 ACTTCAACCACGAAATTGGGA 0.473 NLRP1 22861 broad.mit.edu 37 17 5418368 5418368 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:5418368C>T uc002gci.2 - 17 4683 c.4128G>A c.(4126-4128)CCG>CCA p.P1376P NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Silent_p.P1332P|NLRP1_uc002gcj.2_Silent_p.P1346P|NLRP1_uc002gcl.2_Silent_p.P1302P|NLRP1_uc002gch.3_Silent_p.P1332P NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1376 CARD. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GCAGCAACTGCGGGGCATCCA 0.562 CHD3 1107 broad.mit.edu 37 17 7794025 7794025 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:7794025G>A uc002gje.2 + 3 500 c.350G>A c.(349-351)CGG>CAG p.R117Q CHD3_uc002gjd.2_Missense_Mutation_p.R176Q|CHD3_uc002gjf.2_Missense_Mutation_p.R117Q|CHD3_uc002gjg.1_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 117 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) AAGACAAAGCGGCGGAAAAAG 0.517 CHD3 1107 broad.mit.edu 37 17 7803219 7803219 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:7803219G>T uc002gje.2 + 16 2700 c.2550G>T c.(2548-2550)GAG>GAT p.E850D CHD3_uc002gjd.2_Missense_Mutation_p.E909D|CHD3_uc002gjf.2_Missense_Mutation_p.E850D NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 850 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) GGCAGAGGGAGGCACAGGTGA 0.527 ARHGEF15 22899 broad.mit.edu 37 17 8215418 8215418 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:8215418C>T uc002glc.2 + 2 182 c.61C>T c.(61-63)CGC>TGC p.R21C ARHGEF15_uc002glb.1_Missense_Mutation_p.R21C|ARHGEF15_uc002gld.2_Missense_Mutation_p.R21C|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R21C NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 21 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 TCGGATCATCCGCCCCCGCCC 0.622 MYH10 4628 broad.mit.edu 37 17 8404186 8404186 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:8404186T>C uc002gll.2 - 27 3705 c.3609A>G c.(3607-3609)ACA>ACG p.T1203T MYH10_uc002glm.2_Silent_p.T1234T|MYH10_uc010cnx.2_Silent_p.T1212T NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1203 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 CCTCCAGGGCTGTTGCGTGTC 0.542 RCVRN 5957 broad.mit.edu 37 17 9804356 9804356 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:9804356G>A uc002gme.1 - 2 630 c.443C>T c.(442-444)CCG>CTG p.P148L NM_002903 NP_002894 P35243 RECO_HUMAN recoverin 148 EF-hand 4. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 TCGCTTTTCCGGCGTGTTTTC 0.433 DNAH9 1770 broad.mit.edu 37 17 11648122 11648122 + Silent SNP C C T rs138108837 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:11648122C>T uc002gne.2 + 31 6188 c.6120C>T c.(6118-6120)TAC>TAT p.Y2040Y DNAH9_uc010coo.2_Silent_p.Y1334Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2040 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGATCACTACGACTGGGGCC 0.552 MAP2K4 6416 broad.mit.edu 37 17 12016623 12016623 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:12016623G>A uc002gnj.2 + 7 828 c.759G>A c.(757-759)CAG>CAA p.Q253Q MAP2K4_uc002gnk.2_Silent_p.Q264Q|MAP2K4_uc010vvi.1_Silent_p.Q135Q|MAP2K4_uc010vvj.1_Silent_p.Q125Q NM_003010 NP_003001 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 253 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(1) large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1) 58 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) TCAGTGGACAGCTTGTGGACT 0.428 D|Mis|N pancreatic|breast|colorectal MAP2K4 6416 broad.mit.edu 37 17 12028690 12028690 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:12028690T>C uc002gnj.2 + 8 960 c.891_splice c.e8+2 p.L297_splice MAP2K4_uc002gnk.2_Splice_Site_p.L308_splice|MAP2K4_uc010vvi.1_Splice_Site_p.L179_splice|MAP2K4_uc010vvj.1_Splice_Site_p.L169_splice NM_003010 NP_003001 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(1) large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1) 58 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) ATCACATTGGTATGTTTATGC 0.403 D|Mis|N pancreatic|breast|colorectal COX10 1352 broad.mit.edu 37 17 14110390 14110390 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:14110390C>T uc002gof.3 + 7 1396 c.1192C>T c.(1192-1194)CGC>TGC p.R398C COX10_uc010vvs.1_Missense_Mutation_p.R181C|COX10_uc010vvt.1_Missense_Mutation_p.R206C NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 398 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CCTCGGCTTCCGCTTCTACGT 0.622 C17orf76 388341 broad.mit.edu 37 17 16365691 16365691 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:16365691T>C uc010cph.1 - 2 432 c.256A>G c.(256-258)ATG>GTG p.M86V C17orf76_uc002gqh.2_Missense_Mutation_p.M86V|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron NM_001113567 NP_001107039 Q8NAA5 CQ076_HUMAN hypothetical protein LOC388341 isoform 1 86 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) GTCGACTCCATGCCCAGGTCC 0.612 MYO15A 51168 broad.mit.edu 37 17 18062941 18062941 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:18062941A>G uc010vxh.1 + 54 9589 c.9251A>G c.(9250-9252)GAT>GGT p.D3084G MYO15A_uc010vxi.1_Missense_Mutation_p.D348G|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Missense_Mutation_p.D73G|MYO15A_uc002gsl.2_Missense_Mutation_p.D6G|MYO15A_uc010vxm.1_Missense_Mutation_p.D6G|MYO15A_uc002gsm.1_5'Flank|MYO15A_uc010cpv.2_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 3084 Tail.|MyTH4 2. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TTCATGGGGGATGCCCCACTG 0.587 SMCR8 140775 broad.mit.edu 37 17 18219725 18219725 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:18219725G>A uc002gsy.3 + 1 1132 c.622G>A c.(622-624)GTG>ATG p.V208M NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 208 central_nervous_system(1) 1 CACCAGGACAGTGCTACACAC 0.458 AKAP10 11216 broad.mit.edu 37 17 19839741 19839741 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:19839741T>C uc002gwo.2 - 9 1462 c.1325A>G c.(1324-1326)TAC>TGC p.Y442C AKAP10_uc002gwp.1_Missense_Mutation_p.Y442C|AKAP10_uc010cqw.1_Missense_Mutation_p.Y442C NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 442 RGS 2. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) GAGGGAGAAGTACCTATGGTA 0.413 SUPT6H 6830 broad.mit.edu 37 17 27016406 27016406 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:27016406C>T uc002hby.2 + 25 3259 c.3169C>T c.(3169-3171)CGT>TGT p.R1057C SUPT6H_uc010crt.2_Missense_Mutation_p.R1057C|SUPT6H_uc002hbz.1_5'UTR NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 1057 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TGATGGTTCCCGTGTCCACCC 0.448 RAB34 83871 broad.mit.edu 37 17 27042506 27042506 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:27042506G>T uc002hce.2 - 6 1023 c.399C>A c.(397-399)AAC>AAA p.N133K RAB34_uc002hcg.2_Missense_Mutation_p.N133K|RAB34_uc002hcf.2_Missense_Mutation_p.N134K|RAB34_uc010was.1_Missense_Mutation_p.N190K|RAB34_uc010wat.1_Missense_Mutation_p.N190K|RAB34_uc002hch.2_Missense_Mutation_p.N133K|RAB34_uc010wau.1_Missense_Mutation_p.N111K|RAB34_uc010wav.1_Missense_Mutation_p.N191K NM_031934 NP_114140 Q9BZG1 RAB34_HUMAN Ras-related protein RAB34 isoform 1 133 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding 0 Lung NSC(42;0.00431) CATCATTCAGGTTGAAGACAA 0.498 C17orf79 55352 broad.mit.edu 37 17 30183884 30183884 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:30183884C>T uc002hgp.2 - 2 208 c.100G>A c.(100-102)GCT>ACT p.A34T C17orf79_uc010css.2_RNA NM_018405 NP_060875 Q9NQ92 COPR5_HUMAN chromosome 17 open reading frame 79 34 histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding 0 all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1) GCAAAGCCAGCCTGCAGGAAG 0.378 MYO1D 4642 broad.mit.edu 37 17 31048090 31048090 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:31048090G>A uc002hho.1 - 15 1876 c.1864C>T c.(1864-1866)CGT>TGT p.R622C MYO1D_uc002hhp.1_Missense_Mutation_p.R622C NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 622 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) CCTGCCCGACGCACTCTCACA 0.453 AP2B1 163 broad.mit.edu 37 17 33954650 33954650 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:33954650G>A uc002hjr.2 + 9 1249 c.1060G>A c.(1060-1062)GTT>ATT p.V354I AP2B1_uc002hjq.2_Missense_Mutation_p.V354I|AP2B1_uc010wci.1_Missense_Mutation_p.V316I|AP2B1_uc002hjs.2_Missense_Mutation_p.V297I|AP2B1_uc002hjt.2_Missense_Mutation_p.V354I|AP2B1_uc010ctv.2_Missense_Mutation_p.V354I|AP2B1_uc010wcj.1_Missense_Mutation_p.V91I NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 354 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) GGTTTAACAGGTTCTGGCAGA 0.448 C17orf66 256957 broad.mit.edu 37 17 34182245 34182245 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:34182245C>A uc002hke.1 - 15 1684 c.1535G>T c.(1534-1536)CGA>CTA p.R512L C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.R472L NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 512 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CTTTGCAAGTCGAAAGTCTTG 0.468 ACACA 31 broad.mit.edu 37 17 35486328 35486328 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:35486328G>A uc002hnm.2 - 47 5987 c.5796C>T c.(5794-5796)TAC>TAT p.Y1932Y ACACA_uc002hnk.2_Silent_p.Y1854Y|ACACA_uc002hnl.2_Silent_p.Y1874Y|ACACA_uc002hnn.2_Silent_p.Y1932Y|ACACA_uc002hno.2_Silent_p.Y1969Y|ACACA_uc010cuy.2_Silent_p.Y577Y|ACACA_uc010wdc.1_Silent_p.Y58Y NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1932 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ATCGAGGATCGTATGGGGTCT 0.458 MLLT6 4302 broad.mit.edu 37 17 36861965 36861965 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:36861965G>T uc002hqi.3 + 1 93 c.80G>T c.(79-81)GGG>GTG p.G27V MLLT6_uc010wdr.1_Missense_Mutation_p.G27V|MLLT6_uc010cvm.1_Missense_Mutation_p.G27V NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 27 PHD-type 1. regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) TACTGCGATGGGCACGCGTGC 0.438 T MLL AL PCGF2 7703 broad.mit.edu 37 17 36896593 36896593 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:36896593G>A uc002hqp.1 - 3 306 c.63C>T c.(61-63)TGC>TGT p.C21C PCGF2_uc002hqn.1_Silent_p.C21C|PCGF2_uc002hqo.1_Silent_p.C21C|PCGF2_uc010cvo.1_Intron|PCGF2_uc002hqq.1_Silent_p.C21C NM_007144 NP_009075 P35227 PCGF2_HUMAN ring finger protein 110 21 RING-type. negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 Breast(7;9.07e-22) AGTACCCCCCGCAGAGGGCAC 0.627 ZPBP2 124626 broad.mit.edu 37 17 38026975 38026975 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:38026975T>A uc002hte.2 + 3 300 c.147T>A c.(145-147)AAT>AAA p.N49K ZPBP2_uc002htf.2_Missense_Mutation_p.N27K NM_199321 NP_955353 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 isoform 2 49 binding of sperm to zona pellucida extracellular region ovary(1) 1 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) TACATCAAAATAGTCCAGTCC 0.294 CDC6 990 broad.mit.edu 37 17 38449747 38449747 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:38449747A>C uc002huj.1 + 5 910 c.700A>C c.(700-702)ATG>CTG p.M234L NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 234 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 GCTGAATTGCATGTCCTTGAG 0.418 SMARCE1 6605 broad.mit.edu 37 17 38793825 38793825 + Splice_Site SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:38793825C>A uc002hux.2 - 5 281 c.157_splice c.e5-1 p.A53_splice SMARCE1_uc010wff.1_Splice_Site_p.A18_splice|SMARCE1_uc010wfg.1_Splice_Site|SMARCE1_uc002huy.2_Splice_Site_p.A18_splice|SMARCE1_uc010wfh.1_Splice_Site|SMARCE1_uc010wfi.1_Splice_Site_p.A35_splice|SMARCE1_uc002huz.1_Splice_Site_p.A18_splice|SMARCE1_uc010wfj.1_Splice_Site_p.A35_splice NM_003079 NP_003070 Q969G3 SMCE1_HUMAN SWI/SNF-related matrix-associated chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity 0 Breast(137;0.000812) CAGAGGATGCCTACGAAAGAG 0.433 KRT25 147183 broad.mit.edu 37 17 38907553 38907553 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:38907553G>A uc002hve.2 - 4 756 c.695C>T c.(694-696)GCT>GTT p.A232V NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 232 Rod.|Linker 12. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) GTTGCCTCCAGCTGCGCACTG 0.488 KRT27 342574 broad.mit.edu 37 17 38935850 38935850 + Silent SNP G G A rs116084493 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:38935850G>A uc002hvg.2 - 5 917 c.876C>T c.(874-876)GAC>GAT p.D292D NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 292 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) CGCCAGCGTCGTCAGAGATCT 0.607 KRTAP3-3 85293 broad.mit.edu 37 17 39150246 39150246 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:39150246G>A uc002hvr.1 - 1 140 c.104C>T c.(103-105)ACC>ATC p.T35I NM_033185 NP_149441 Q9BYR6 KRA33_HUMAN keratin associated protein 3-3 35 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity 0 Breast(137;0.00043) GTGTGGGCAGGTGCTGGGCAG 0.632 KRT38 8687 broad.mit.edu 37 17 39596889 39596889 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:39596889A>G uc002hwq.1 - 1 708 c.285T>C c.(283-285)TAT>TAC p.Y95Y NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 95 Head. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) TGTTTTCACCATAGGCCCCAC 0.597 KRT38 8687 broad.mit.edu 37 17 39596907 39596907 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:39596907A>G uc002hwq.1 - 1 690 c.267T>C c.(265-267)ATT>ATC p.I89I NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 89 Head. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) CACAGATTCCAATGTTGCCAG 0.602 KRT15 3866 broad.mit.edu 37 17 39674627 39674627 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:39674627G>A uc002hwy.2 - 1 644 c.453C>T c.(451-453)TGC>TGT p.C151C KRT15_uc002hwz.2_Missense_Mutation_p.A14V|KRT15_uc002hxa.2_Missense_Mutation_p.A14V|KRT15_uc002hxb.1_Missense_Mutation_p.A14V NM_002275 NP_002266 P19012 K1C15_HUMAN keratin 15 151 Rod.|Linker 1. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000286) GGCTGTAGTCGCATTCTGGGC 0.562 KLHL11 55175 broad.mit.edu 37 17 40011390 40011390 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:40011390C>T uc002hyf.1 - 2 735 c.729G>A c.(727-729)ACG>ACA p.T243T NM_018143 NP_060613 Q9NVR0 KLH11_HUMAN kelch-like 11 precursor 243 BACK. extracellular region 0 Breast(137;0.00156) GGAAAGGTAACGTATAAAATT 0.398 DHX58 79132 broad.mit.edu 37 17 40253855 40253855 + Missense_Mutation SNP C C T rs117253612 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:40253855C>T uc002hyw.3 - 14 2184 c.1961G>A c.(1960-1962)CGC>CAC p.R654H DHX58_uc002hyv.3_RNA NM_024119 NP_077024 Q96C10 DHX58_HUMAN RNA helicase LGP2 654 RNA-binding. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GAAGGGCACGCGGGACCACTT 0.592 OREG0024418 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) STAT5B 6777 broad.mit.edu 37 17 40371806 40371806 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:40371806G>A uc002hzh.2 - 6 774 c.605C>T c.(604-606)ACG>ATG p.T202M STAT5B_uc002hzi.3_Missense_Mutation_p.T202M NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 202 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) CTGGAGGGCCGTCTCCCGGCT 0.652 STAT5A 6776 broad.mit.edu 37 17 40459717 40459717 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:40459717A>G uc002hzj.1 + 16 2524 c.1882A>G c.(1882-1884)ACC>GCC p.T628A STAT5A_uc010cya.1_Missense_Mutation_p.T628A|STAT5A_uc010cyb.1_Missense_Mutation_p.T597A|STAT5A_uc010cyc.1_Missense_Mutation_p.T598A|STAT5A_uc010cyd.1_Missense_Mutation_p.T116A|STAT5A_uc010cye.1_Missense_Mutation_p.T116A NM_003152 NP_003143 P42229 STA5A_HUMAN signal transducer and activator of transcription 628 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CGGGGGCATCACCATCGCCTG 0.587 BRCA1 672 broad.mit.edu 37 17 41246445 41246445 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:41246445T>C uc002icq.2 - 10 1335 c.1103A>G c.(1102-1104)GAA>GGA p.E368G BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E297G|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E321G|BRCA1_uc002ict.2_Missense_Mutation_p.E368G|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E368G|BRCA1_uc002ide.1_Missense_Mutation_p.E199G|BRCA1_uc010cyy.1_Missense_Mutation_p.E368G|BRCA1_uc010whs.1_Missense_Mutation_p.E368G|BRCA1_uc010cyz.2_Missense_Mutation_p.E321G|BRCA1_uc010cza.2_Missense_Mutation_p.E342G|BRCA1_uc010wht.1_Missense_Mutation_p.E72G NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 368 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) AGGAACATCTTCAGTATCTCT 0.403 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) MPP3 4356 broad.mit.edu 37 17 41908667 41908667 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:41908667T>C uc002iei.3 - 5 333 c.167A>G c.(166-168)TAT>TGT p.Y56C MPP3_uc002ieh.2_Missense_Mutation_p.Y81C|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.Y56C|MPP3_uc010wik.1_Missense_Mutation_p.Y81C|MPP3_uc010czj.1_Missense_Mutation_p.Y56C NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 56 L27 1. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) TTGCCTTTCATAATAGCGAAG 0.557 SLC25A39 51629 broad.mit.edu 37 17 42397752 42397752 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:42397752A>G uc002ign.2 - 10 1008 c.854T>C c.(853-855)GTC>GCC p.V285A SLC25A39_uc002igm.2_Missense_Mutation_p.V277A|SLC25A39_uc002igo.2_Missense_Mutation_p.V277A|SLC25A39_uc010wiw.1_Missense_Mutation_p.V262A|SLC25A39_uc010czu.2_Missense_Mutation_p.V153A NM_001143780 NP_001137252 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 isoform a 285 Solcar 3. heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane upper_aerodigestive_tract(1) 1 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TCCCAGAGCGACCTGGCGTTG 0.662 GPATCH8 23131 broad.mit.edu 37 17 42475537 42475537 + Missense_Mutation SNP G G A rs34826608 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:42475537G>A uc002igw.1 - 8 3972 c.3908C>T c.(3907-3909)GCC>GTC p.A1303V GPATCH8_uc002igv.1_Missense_Mutation_p.A1225V|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1225V NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1303 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) TTCCAGGGGGGCCAGTGAAGC 0.562 GPATCH8 23131 broad.mit.edu 37 17 42476193 42476193 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:42476193G>A uc002igw.1 - 8 3316 c.3252C>T c.(3250-3252)GAC>GAT p.D1084D GPATCH8_uc002igv.1_Silent_p.D1006D|GPATCH8_uc010wiz.1_Silent_p.D1006D NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1084 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) CAGAGTTCTTGTCTTCAGGAC 0.507 PLEKHM1 9842 broad.mit.edu 37 17 43531400 43531400 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:43531400G>A uc002ija.2 - 7 1988 c.1818C>T c.(1816-1818)CGC>CGT p.R606R PLEKHM1_uc010wjm.1_Silent_p.R578R|PLEKHM1_uc002ijb.2_Silent_p.R81R|PLEKHM1_uc010wjn.1_Silent_p.R555R|PLEKHM1_uc002ijc.2_Silent_p.R60R NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 606 PH 1. intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) GGGAGGAGGCGCGCAGGGCCA 0.642 PLEKHM1 9842 broad.mit.edu 37 17 43553069 43553069 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:43553069T>C uc002ija.2 - 4 490 c.320A>G c.(319-321)CAC>CGC p.H107R PLEKHM1_uc010wjm.1_Missense_Mutation_p.H79R|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.H56R|hsa-mir-4315-1|MI0015844_5'Flank NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 107 RUN. intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) AAACGTCAGGTGCTCCAACTC 0.552 CRHR1 1394 broad.mit.edu 37 17 43906680 43906680 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:43906680C>T uc010dap.2 + 5 692 c.427C>T c.(427-429)CGG>TGG p.R143W CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.R42W|CRHR1_uc002ijm.2_Missense_Mutation_p.R143W|CRHR1_uc002ijn.2_Missense_Mutation_p.R103W|CRHR1_uc010dar.2_Missense_Mutation_p.R143W|CRHR1_uc010dao.2_Missense_Mutation_p.R42W|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 143 Cytoplasmic (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CCTCTTTCTGCGGCTCAGGTG 0.577 ITGB3 3690 broad.mit.edu 37 17 45377889 45377889 + Silent SNP C C T rs112717328 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:45377889C>T uc002ilj.2 + 12 1979 c.1959C>T c.(1957-1959)GAC>GAT p.D653D ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 653 Extracellular (Potential). GALHD -> EPYMT (in Ref. 1; AAA52589, 2; AAA60122 and 4; AAB71380). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) CCCTACATGACGAAAATACCT 0.463 NGFR 4804 broad.mit.edu 37 17 47587858 47587858 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:47587858C>A uc002ioz.3 + 4 778 c.653C>A c.(652-654)CCT>CAT p.P218H NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 218 Ser/Thr-rich.|Extracellular (Potential). anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) CCTGAGGCACCTCCAGAACAA 0.642 XYLT2 64132 broad.mit.edu 37 17 48433494 48433494 + Missense_Mutation SNP G G A rs139052712 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:48433494G>A uc002iqo.2 + 7 1463 c.1354G>A c.(1354-1356)GTG>ATG p.V452M XYLT2_uc010dbo.2_RNA NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 452 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) TGAGACCCTCGTGGACAACAA 0.602 XYLT2 64132 broad.mit.edu 37 17 48435836 48435836 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:48435836C>T uc002iqo.2 + 10 2319 c.2210C>T c.(2209-2211)CCG>CTG p.P737L XYLT2_uc010dbo.2_RNA NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 737 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) TTCTGGGAACCGCTGGGTGAG 0.587 RSAD1 55316 broad.mit.edu 37 17 48561095 48561095 + Missense_Mutation SNP C C T rs148371199 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:48561095C>T uc002iqw.1 + 7 1137 c.1081C>T c.(1081-1083)CGC>TGC p.R361C RSAD1_uc010wmq.1_Intron NM_018346 NP_060816 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 361 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCTGGGGCTACGCACCGATGT 0.537 SPAG9 9043 broad.mit.edu 37 17 49098699 49098699 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:49098699C>T uc002itc.2 - 7 1020 c.811G>A c.(811-813)GGA>AGA p.G271R SPAG9_uc002itb.2_Missense_Mutation_p.G257R|SPAG9_uc002itd.2_Missense_Mutation_p.G257R|SPAG9_uc002itf.2_Missense_Mutation_p.G92R|SPAG9_uc002ita.2_Missense_Mutation_p.G114R|SPAG9_uc002ite.2_Missense_Mutation_p.G101R NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 271 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) GCTTTAGATCCGCCTTGGCTA 0.348 NME1-NME2 654364 broad.mit.edu 37 17 49247316 49247316 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:49247316G>A uc002itk.2 + 8 920 c.667G>A c.(667-669)GTG>ATG p.V223M NME1-NME2_uc002itj.2_Missense_Mutation_p.V198M|NME2_uc002itl.2_Missense_Mutation_p.V83M|NME2_uc002itm.2_Missense_Mutation_p.V83M|NME2_uc002itn.2_Missense_Mutation_p.V83M|NME2_uc002ito.2_Missense_Mutation_p.V83M NM_002512 NP_002503 P22392 NDKB_HUMAN nucleoside diphosphate kinase B 83 cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|UTP biosynthetic process cytosol|lamellipodium|nucleus|ruffle ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity 0 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) GGGGCTGAACGTGGTGAAGAC 0.512 KIF2B 84643 broad.mit.edu 37 17 51900915 51900915 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:51900915G>A uc002iua.2 + 1 677 c.521G>A c.(520-522)CGC>CAC p.R174H uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 174 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CGAGCTAGACGCGCCCTCGAT 0.547 MPO 4353 broad.mit.edu 37 17 56348170 56348170 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:56348170G>T uc002ivu.1 - 12 2262 c.2085C>A c.(2083-2085)GCC>GCA p.A695A NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 695 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) ATGAGATCTGGGCCAGGGCCT 0.547 MTMR4 9110 broad.mit.edu 37 17 56584616 56584616 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:56584616G>A uc002iwj.2 - 9 840 c.730C>T c.(730-732)CGC>TGC p.R244C NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 244 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCAGCATTGCGCCAGCCCCAC 0.597 C17orf47 284083 broad.mit.edu 37 17 56620624 56620624 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:56620624G>A uc002iwq.1 - 1 1060 c.924C>T c.(922-924)TCC>TCT p.S308S SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 308 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGACCTTTGCGGAGGGCTTGG 0.527 CLTC 1213 broad.mit.edu 37 17 57760780 57760780 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:57760780G>A uc002ixq.1 + 26 4517 c.4074G>A c.(4072-4074)TGG>TGA p.W1358* CLTC_uc002ixp.2_Nonsense_Mutation_p.W1358*|CLTC_uc002ixr.1_Nonsense_Mutation_p.W1362* NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 1358 Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity). axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTCATCTTTGGGCAGAACTGG 0.363 T ALK|TFE3 ALCL|renal USP32 84669 broad.mit.edu 37 17 58343335 58343335 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:58343335A>G uc002iyo.1 - 8 1213 c.927_splice c.e8+1 p.P309_splice USP32_uc010wov.1_Splice_Site_p.P309_splice NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ATCATAACTTACAGGAATATC 0.383 TBX4 9496 broad.mit.edu 37 17 59560552 59560552 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:59560552C>T uc002izi.2 + 8 1358 c.1313C>T c.(1312-1314)CCG>CTG p.P438L TBX4_uc010ddo.2_Missense_Mutation_p.P439L|TBX4_uc010woy.1_Missense_Mutation_p.P439L NM_018488 NP_060958 P57082 TBX4_HUMAN T-box 4 438 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 GAGACTGTGCCGTACCAGCCC 0.627 MED13 9969 broad.mit.edu 37 17 60059688 60059688 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:60059688G>A uc002izo.2 - 16 3753 c.3676C>T c.(3676-3678)CGT>TGT p.R1226C NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1226 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 CAACAGTCACGCTCTTCAACA 0.418 TANC2 26115 broad.mit.edu 37 17 61466684 61466684 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:61466684A>G uc002jal.3 + 15 2631 c.2608A>G c.(2608-2610)ATT>GTT p.I870V TANC2_uc010wpe.1_Missense_Mutation_p.I780V|TANC2_uc002jan.1_Missense_Mutation_p.I21V|TANC2_uc002jao.3_5'UTR|TANC2_uc002jam.1_Missense_Mutation_p.I237V NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 870 ANK 1. binding ovary(2) 2 CCGACTGCTGATTTTGGGAGG 0.368 KCNH6 81033 broad.mit.edu 37 17 61611294 61611294 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:61611294G>A uc002jay.2 + 5 803 c.723G>A c.(721-723)GCG>GCA p.A241A KCNH6_uc002jax.1_Silent_p.A241A|KCNH6_uc010wpl.1_Silent_p.A118A|KCNH6_uc010wpm.1_Silent_p.A241A|KCNH6_uc002jaz.1_Silent_p.A241A NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 241 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) AGCTGCAGGCGCCGCGCATCC 0.672 MAP3K3 4215 broad.mit.edu 37 17 61710073 61710073 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:61710073G>A uc002jbg.2 + 2 356 c.37G>A c.(37-39)GAT>AAT p.D13N MAP3K3_uc002jbe.2_Missense_Mutation_p.D13N|MAP3K3_uc002jbf.2_Missense_Mutation_p.D13N|MAP3K3_uc002jbh.2_Missense_Mutation_p.D13N|MAP3K3_uc010wpo.1_5'UTR|MAP3K3_uc010wpp.1_Missense_Mutation_p.D13N NM_002401 NP_002392 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 13 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 AATCATGAACGATCTGGTGGC 0.473 PSMC5 5705 broad.mit.edu 37 17 61908237 61908237 + Silent SNP G G A rs138950745 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:61908237G>A uc002jcb.2 + 7 662 c.621G>A c.(619-621)ACG>ACA p.T207T PSMC5_uc010ddy.2_Silent_p.T184T|PSMC5_uc010ddz.2_Silent_p.T128T|PSMC5_uc002jcc.2_Silent_p.T199T|PSMC5_uc002jcd.2_Silent_p.T199T NM_002805 NP_002796 P62195 PRS8_HUMAN proteasome 26S ATPase subunit 5 207 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding large_intestine(1) 1 CTCATCATACGGACTGTACCT 0.532 CSHL1 1444 broad.mit.edu 37 17 61987659 61987659 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:61987659G>A uc002jda.1 - 4 396 c.334C>T c.(334-336)CTG>TTG p.L112L CSHL1_uc002jcz.1_Silent_p.L89L|CSHL1_uc002jdb.1_Silent_p.L18L|CSHL1_uc002jdc.1_Silent_p.L29L|CSHL1_uc002jdd.1_Silent_p.L50L|CSHL1_uc002jde.2_3'UTR|CSHL1_uc002jdf.2_Silent_p.L29L|CSHL1_uc002jdg.2_3'UTR|CSHL1_uc002jdh.2_Silent_p.L18L NM_022579 NP_072101 Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 112 extracellular region hormone activity|metal ion binding 0 TCGATGAGCAGCAGGGAGATG 0.622 APOH 350 broad.mit.edu 37 17 64216830 64216830 + Missense_Mutation SNP G G A rs113544357 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:64216830G>A uc002jfn.3 - 5 505 c.446C>T c.(445-447)ACG>ATG p.T149M NM_000042 NP_000033 P02749 APOH_HUMAN apolipoprotein H precursor 149 Sushi 3. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding 0 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TGTTGCAAACGTAGGTATGGA 0.393 PITPNC1 26207 broad.mit.edu 37 17 65628318 65628318 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:65628318C>T uc002jgc.2 + 6 773 c.426C>T c.(424-426)TGC>TGT p.C142C PITPNC1_uc002jgb.2_Silent_p.C142C NM_012417 NP_036549 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, 142 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding skin(1) 1 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) ATATTGCCTGCGATGAAATTC 0.363 KPNA2 3838 broad.mit.edu 37 17 66039402 66039402 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:66039402C>T uc002jgk.2 + 7 985 c.853C>T c.(853-855)CGA>TGA p.R285* KPNA2_uc002jgl.2_Nonsense_Mutation_p.R285* NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 285 ARM 6. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TCCAAATGAACGAATTGGCAT 0.428 ABCA8 10351 broad.mit.edu 37 17 66924149 66924149 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:66924149C>T uc002jhp.2 - 9 1360 c.1181G>A c.(1180-1182)GGC>GAC p.G394D ABCA8_uc002jhq.2_Missense_Mutation_p.G394D|ABCA8_uc010wqq.1_Missense_Mutation_p.G394D|ABCA8_uc010wqr.1_Missense_Mutation_p.G333D|ABCA8_uc002jhr.2_Missense_Mutation_p.G394D NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 394 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GAGATTTGAGCCGTCCGATGG 0.333 KIAA0195 9772 broad.mit.edu 37 17 73491708 73491708 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:73491708C>T uc002jnz.3 + 22 3203 c.2928C>T c.(2926-2928)ACC>ACT p.T976T KIAA0195_uc010wsa.1_Silent_p.T986T|KIAA0195_uc010wsb.1_Silent_p.T616T|KIAA0195_uc002job.3_5'UTR NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 976 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCTTTTCACCGACTGCACCC 0.637 TRIM65 201292 broad.mit.edu 37 17 73888555 73888555 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:73888555C>A uc002jpx.2 - 3 573 c.537G>T c.(535-537)TGG>TGT p.W179C NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN tripartite motif-containing 65 179 Potential. intracellular zinc ion binding 0 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCCGGAGACCCAGGAGGCCA 0.652 FBF1 85302 broad.mit.edu 37 17 73919411 73919411 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:73919411A>G uc002jqc.2 - 13 1509 c.1235T>C c.(1234-1236)CTG>CCG p.L412P FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.L403P|FBF1_uc002jqd.1_Missense_Mutation_p.L413P|FBF1_uc010dgr.1_5'Flank NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 412 0 GGAGGCTCGCAGCTTGGAAGC 0.647 ACOX1 51 broad.mit.edu 37 17 73947496 73947496 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:73947496C>A uc002jqf.2 - 8 1397 c.1107G>T c.(1105-1107)GAG>GAT p.E369D ACOX1_uc010wsq.1_Missense_Mutation_p.E331D|ACOX1_uc002jqe.2_Missense_Mutation_p.E369D|ACOX1_uc010wsr.1_Missense_Mutation_p.E301D NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 369 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 AAACTCATACCTCAGGCAGTT 0.488 CCDC40 55036 broad.mit.edu 37 17 78023884 78023884 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:78023884C>A uc010dht.2 + 7 988 c.961C>A c.(961-963)CGA>AGA p.R321R CCDC40_uc010wub.1_Silent_p.R321R|CCDC40_uc002jxm.3_Silent_p.R104R NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 321 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) CAAGCAGAGCCGAGCCCAGCG 0.602 C17orf70 80233 broad.mit.edu 37 17 79508401 79508401 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:79508401G>A uc002kaq.2 - 8 2503 c.2448C>T c.(2446-2448)GCC>GCT p.A816A C17orf70_uc002kao.1_Silent_p.A465A|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.A665A NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 816 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) AGCCCTGGGTGGCCTGCTCTG 0.672 C17orf70 80233 broad.mit.edu 37 17 79517607 79517607 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:79517607C>T uc002kaq.2 - 3 968 c.913G>A c.(913-915)GAG>AAG p.E305K C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.E154K NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 305 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) TGCACATCCTCGTCAGGCAGA 0.592 RAC3 5881 broad.mit.edu 37 17 79991663 79991663 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:79991663G>A uc002kdf.2 + 6 643 c.537G>A c.(535-537)CCG>CCA p.P179P NM_005052 NP_005043 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho 179 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TGCTCTGCCCGCCCCCAGTGA 0.667 DUS1L 64118 broad.mit.edu 37 17 80017938 80017938 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:80017938C>T uc002kdq.2 - 10 1473 c.1054G>A c.(1054-1056)GCG>ACG p.A352T DUS1L_uc002kdp.2_Missense_Mutation_p.A221T|DUS1L_uc002kdr.2_Missense_Mutation_p.A352T|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein 352 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) TTGCTGCGCGCACCTGCCTTC 0.657 EPB41L3 23136 broad.mit.edu 37 18 5443867 5443867 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:5443867G>T uc002kmt.1 - 5 585 c.499C>A c.(499-501)CCT>ACT p.P167T EPB41L3_uc010wzh.1_Missense_Mutation_p.P167T|EPB41L3_uc002kmu.1_Missense_Mutation_p.P167T|EPB41L3_uc010dkq.1_Missense_Mutation_p.P58T|EPB41L3_uc010dks.1_Missense_Mutation_p.P189T|EPB41L3_uc002kmv.1_Missense_Mutation_p.P58T NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 167 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TCCTTAGCAGGGTCCAACCAA 0.343 TMEM200C 645369 broad.mit.edu 37 18 5891983 5891983 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:5891983C>T uc002kmx.1 - 1 121 c.80G>A c.(79-81)CGC>CAC p.R27H NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 27 integral to membrane 0 TTTCCGCTTGCGCTTGGGTAT 0.612 PTPRM 5797 broad.mit.edu 37 18 8370934 8370934 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:8370934A>G uc002knn.3 + 22 3565 c.3062A>G c.(3061-3063)GAC>GGC p.D1021G PTPRM_uc010dkv.2_Missense_Mutation_p.D1034G|PTPRM_uc010wzl.1_Missense_Mutation_p.D808G NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1021 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) ATATATAAAGACATTAAAGTT 0.318 TXNDC2 84203 broad.mit.edu 37 18 9887504 9887504 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:9887504A>G uc002koi.3 + 2 1477 c.1028A>G c.(1027-1029)GAC>GGC p.D343G TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.D276G NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 343 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|16. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 AAGGAGGGTGACATCCCCAAG 0.577 TXNDC2 84203 broad.mit.edu 37 18 9887579 9887579 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:9887579A>T uc002koi.3 + 2 1552 c.1103A>T c.(1102-1104)CAG>CTG p.Q368L TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.Q301L NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 368 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|18. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 GAAGCCATCCAGCCCAAGGAG 0.567 TUBB6 84617 broad.mit.edu 37 18 12308711 12308711 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:12308711A>G uc002kqw.2 + 2 128 c.83A>G c.(82-84)CAC>CGC p.H28R TUBB6_uc002kqv.2_5'UTR|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.H28R|TUBB6_uc002kqy.2_Missense_Mutation_p.H28R NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN tubulin, beta 6 28 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 READ - Rectum adenocarcinoma(1;0.0649) AGCGATGAGCACGGCATCGAC 0.647 SPIRE1 56907 broad.mit.edu 37 18 12454398 12454398 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:12454398G>C uc002kre.2 - 13 1770 c.1723C>G c.(1723-1725)CTG>GTG p.L575V SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.L441V|SPIRE1_uc010wzx.1_Missense_Mutation_p.L364V|SPIRE1_uc010wzy.1_Missense_Mutation_p.L561V NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 575 Spir-box. cytoskeleton|perinuclear region of cytoplasm actin binding 0 TATTTTTCCAGCTCTGCCTTC 0.433 PTPN2 5771 broad.mit.edu 37 18 12830993 12830993 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:12830993C>T uc002krp.2 - 4 503 c.309G>A c.(307-309)CAG>CAA p.Q103Q PTPN2_uc002krl.2_Silent_p.Q103Q|PTPN2_uc002krn.2_Silent_p.Q103Q|PTPN2_uc002kro.2_Silent_p.Q103Q|PTPN2_uc002krm.2_Silent_p.Q103Q NM_002828 NP_002819 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 103 Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding skin(2) 2 Lung NSC(161;8.94e-06) TGGTCTTCTGCTGCCAAACCA 0.428 CHST9 83539 broad.mit.edu 37 18 24722722 24722722 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:24722722G>A uc002kwd.2 - 1 250 c.52C>T c.(52-54)CTG>TTG p.L18L C18orf16_uc010xbm.1_Intron|CHST9_uc002kwe.2_Silent_p.L18L NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 18 Helical; Signal-anchor for type II membrane protein; (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) CCAAATATCAGCACAGAGAGG 0.388 MOCOS 55034 broad.mit.edu 37 18 33775270 33775270 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:33775270C>T uc002kzq.3 + 2 216 c.193C>T c.(193-195)CTC>TTC p.L65F NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 65 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) CCAGAGCCAGCTCGAAAGCTT 0.393 CELF4 56853 broad.mit.edu 37 18 34854283 34854283 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:34854283G>A uc002lae.2 - 6 1188 c.792C>T c.(790-792)TAC>TAT p.Y264Y CELF4_uc010dnd.1_Silent_p.Y263Y|CELF4_uc002lag.2_Silent_p.Y254Y|CELF4_uc002laf.2_Silent_p.Y259Y|CELF4_uc002lai.2_Silent_p.Y249Y|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.R100C NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 264 Sufficient for RNA-binding and MSE- dependent splicing activity.|Ala-rich. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CTGCCTGAGCGTAGGCGCCGT 0.607 PIK3C3 5289 broad.mit.edu 37 18 39570520 39570520 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:39570520T>C uc002lap.2 + 6 772 c.714_splice c.e6+2 p.K238_splice PIK3C3_uc010xcl.1_Splice_Site_p.K175_splice NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 TATGAAAAGGTATTTCCCTTG 0.353 TSP Lung(28;0.18) SETBP1 26040 broad.mit.edu 37 18 42531185 42531185 + Missense_Mutation SNP G G A rs138819848 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:42531185G>A uc010dni.2 + 4 2176 c.1880G>A c.(1879-1881)CGC>CAC p.R627H NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 627 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAGCGACGACGCAATTTAGCG 0.517 Schinzel-Giedion_syndrome SLC14A1 6563 broad.mit.edu 37 18 43328373 43328373 + Missense_Mutation SNP G G A rs147114544 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:43328373G>A uc010xcn.1 + 10 1298 c.979G>A c.(979-981)GCA>ACA p.A327T SLC14A1_uc010dnk.2_Missense_Mutation_p.A383T|SLC14A1_uc002lbf.3_Missense_Mutation_p.A327T|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.A222T|SLC14A1_uc002lbh.3_Missense_Mutation_p.A219T|SLC14A1_uc002lbi.3_Missense_Mutation_p.A195T|SLC14A1_uc002lbj.3_Missense_Mutation_p.A383T|SLC14A1_uc002lbk.3_Missense_Mutation_p.A327T NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 327 Helical; (Potential). integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 AGTCGGCATGGCAAACTTTAT 0.443 CDH20 28316 broad.mit.edu 37 18 59221564 59221564 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:59221564C>T uc010dps.1 + 11 2054 c.2042C>T c.(2041-2043)GCG>GTG p.A681V CDH20_uc002lif.2_Missense_Mutation_p.A675V NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 681 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TTCGACATCGCGGCCATGTGG 0.667 PHLPP1 23239 broad.mit.edu 37 18 60609077 60609077 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:60609077G>A uc002lis.2 + 12 1729 c.1551G>A c.(1549-1551)GTG>GTA p.V517V NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1029 LRR 16. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 ACAAATGTGTGCCCTTGTTAA 0.448 SERPINB8 5271 broad.mit.edu 37 18 61654298 61654298 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:61654298C>T uc002ljv.2 + 7 1080 c.911C>T c.(910-912)ACT>ATT p.T304I SERPINB8_uc002lju.2_Missense_Mutation_p.T304I|SERPINB8_uc010xex.1_Missense_Mutation_p.T122I NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 304 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) GGAATGTCAACTGAGAAGAAT 0.498 CD226 10666 broad.mit.edu 37 18 67563239 67563239 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:67563239G>A uc010dqo.2 - 3 872 c.425C>T c.(424-426)TCG>TTG p.S142L CD226_uc002lkm.3_Missense_Mutation_p.S142L NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 142 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) TCCAGGTTCCGAAACAATGTG 0.478 C18orf55 29090 broad.mit.edu 37 18 71825638 71825638 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:71825638C>T uc010dqr.1 + 6 968 c.670C>T c.(670-672)CGA>TGA p.R224* NM_014177 NP_054896 Q9BVV7 TI21L_HUMAN hypothetical protein LOC29090 precursor 224 protein transport|transmembrane transport integral to membrane|mitochondrial membrane 0 Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211) ATATGATTTTCGATATATATT 0.333 ZNF236 7776 broad.mit.edu 37 18 74639309 74639309 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:74639309T>C uc002lmi.2 + 24 4442 c.4244T>C c.(4243-4245)CTG>CCG p.L1415P ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1415 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GAGCCTGGCCTGGCCCCACAG 0.582 SALL3 27164 broad.mit.edu 37 18 76757103 76757103 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:76757103C>T uc002lmt.2 + 3 3684 c.3684C>T c.(3682-3684)AAC>AAT p.N1228N SALL3_uc010dra.2_Silent_p.N763N NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TGAAGAACAACGAGATCTCCG 0.612 NFATC1 4772 broad.mit.edu 37 18 77170868 77170868 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:77170868C>T uc010xfg.1 + 2 1046 c.593C>T c.(592-594)GCG>GTG p.A198V NFATC1_uc002lnc.1_Missense_Mutation_p.A198V|NFATC1_uc010xff.1_Missense_Mutation_p.A198V|NFATC1_uc002lnd.2_Missense_Mutation_p.A198V|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.A198V|NFATC1_uc010xfi.1_Missense_Mutation_p.A185V|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.A185V|NFATC1_uc002lng.2_Missense_Mutation_p.A185V|NFATC1_uc010xfk.1_Missense_Mutation_p.A185V NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 198 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) TACCCGTACGCGTCCCCCCAG 0.677 NFATC1 4772 broad.mit.edu 37 18 77287538 77287538 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:77287538A>G uc010xfg.1 + 10 3246 c.2793A>G c.(2791-2793)ATA>ATG p.I931M NFATC1_uc002lnd.2_3'UTR|NFATC1_uc002lne.2_3'UTR|NFATC1_uc010xfh.1_Missense_Mutation_p.I701M|NFATC1_uc010xfj.1_Missense_Mutation_p.I459M|NFATC1_uc002lnf.2_Missense_Mutation_p.I918M|NFATC1_uc002lng.2_3'UTR|NFATC1_uc010xfk.1_Missense_Mutation_p.I688M|NFATC1_uc010drc.2_RNA NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 931 Nuclear export signal.|Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) TAAATGAAATAATACGAAATG 0.438 CTDP1 9150 broad.mit.edu 37 18 77475153 77475153 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:77475153G>A uc002lnh.1 + 8 1840 c.1693G>A c.(1693-1695)GGG>AGG p.G565R CTDP1_uc002lni.1_Missense_Mutation_p.G565R|CTDP1_uc010drd.1_Missense_Mutation_p.G565R NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 565 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CGAGCTGTCGGGGGTCACTGC 0.582 PPAP2C 8612 broad.mit.edu 37 19 287508 287508 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:287508A>G uc002loi.2 - 3 547 c.448T>C c.(448-450)TGC>CGC p.C150R PPAP2C_uc002loh.2_Missense_Mutation_p.C171R|PPAP2C_uc002loj.2_Missense_Mutation_p.C94R NM_003712 NP_003703 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C isoform 1 150 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTTCCCCTGCACACCTTCTCC 0.602 PPAP2C 8612 broad.mit.edu 37 19 287537 287537 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:287537C>T uc002loi.2 - 3 518 c.419G>A c.(418-420)TGC>TAC p.C140Y PPAP2C_uc002loh.2_Missense_Mutation_p.C161Y|PPAP2C_uc002loj.2_Missense_Mutation_p.C84Y NM_003712 NP_003703 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C isoform 1 140 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATAGACCGAGCAGTTGACCCG 0.612 FSTL3 10272 broad.mit.edu 37 19 681536 681536 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:681536G>A uc002lpk.1 + 4 744 c.709G>A c.(709-711)GTG>ATG p.V237M FSTL3_uc010drt.1_RNA NM_005860 NP_005851 O95633 FSTL3_HUMAN follistatin-like 3 glycoprotein precursor 237 Kazal-like 2. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCATCGGCGTGCGCCACGC 0.697 T CCND1 B-CLL GRIN3B 116444 broad.mit.edu 37 19 1004645 1004645 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:1004645C>T uc002lqo.1 + 3 1145 c.1145C>T c.(1144-1146)GCC>GTC p.A382V NM_138690 NP_619635 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, 382 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGCGCCCCGGCCTGGGCCACG 0.736 APC2 10297 broad.mit.edu 37 19 1468467 1468467 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:1468467G>A uc002lsr.1 + 15 5375 c.5167G>A c.(5167-5169)GGG>AGG p.G1723R APC2_uc002lss.1_Missense_Mutation_p.G1305R|APC2_uc002lst.1_Missense_Mutation_p.G1723R|APC2_uc002lsu.1_Missense_Mutation_p.G1722R|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 1723 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) CTTCGTATCCGGGCTGTCAGT 0.657 TCF3 6929 broad.mit.edu 37 19 1619109 1619109 + Splice_Site SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:1619109C>T uc002ltr.2 - 16 1517 c.1450_splice c.e16+1 p.G484_splice TCF3_uc002lto.2_Splice_Site_p.G245_splice|TCF3_uc002ltt.3_Splice_Site_p.G484_splice|TCF3_uc002ltq.2_Splice_Site_p.G433_splice|TCF3_uc002lts.1_Splice_Site_p.G400_splice NM_003200 NP_003191 P15923 TFE2_HUMAN transcription factor 3 isoform E12 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) CAAGGGCTTACCACTGTAGGA 0.657 T PBX1|HLF|TFPT pre B-ALL SLC39A3 29985 broad.mit.edu 37 19 2737213 2737213 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:2737213C>T uc002lwg.2 - 2 297 c.43G>A c.(43-45)GTG>ATG p.V15M SLC39A3_uc010xgy.1_Missense_Mutation_p.V15M|SLC39A3_uc002lwh.2_Missense_Mutation_p.V15M NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), 15 Helical; (Potential). integral to membrane|plasma membrane zinc ion transmembrane transporter activity 0 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) AAGAAGAACACGCCCACCATG 0.557 ZNF556 80032 broad.mit.edu 37 19 2877353 2877353 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:2877353A>G uc002lwp.1 + 4 484 c.397A>G c.(397-399)AAT>GAT p.N133D ZNF556_uc002lwq.2_Missense_Mutation_p.N132D NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 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)|STAD - Stomach adenocarcinoma(1328;0.18) TCGAAATTGTAATCGTCATCT 0.423 NFIC 4782 broad.mit.edu 37 19 3382066 3382066 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:3382066G>A uc010xhi.1 + 2 449 c.387G>A c.(385-387)CGG>CGA p.R129R NFIC_uc002lxo.2_Silent_p.R120R|NFIC_uc010xhh.1_Silent_p.R120R|NFIC_uc002lxp.2_Silent_p.R129R|NFIC_uc010xhj.1_Silent_p.R129R|NFIC_uc002lxq.1_Silent_p.R81R NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 129 CTF/NF-I. DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) AGGTGTGGCGGCTGGACCTGG 0.672 ZFR2 23217 broad.mit.edu 37 19 3834969 3834969 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:3834969C>T uc002lyw.2 - 2 78 c.66G>A c.(64-66)CCG>CCA p.P22P ZFR2_uc010xhx.1_RNA NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 22 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GGGGAAGGGTCGGAGGCTGGG 0.627 PIAS4 51588 broad.mit.edu 37 19 4024034 4024034 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:4024034T>C uc002lzg.2 + 3 465 c.455T>C c.(454-456)GTC>GCC p.V152A NM_015897 NP_056981 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 152 PINIT. positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TTGTCTTCAGTCCCACAGAAC 0.607 SH3GL1 6455 broad.mit.edu 37 19 4361746 4361746 + Missense_Mutation SNP C C T rs146842065 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:4361746C>T uc002maj.2 - 10 1064 c.958G>A c.(958-960)GAG>AAG p.E320K SH3GL1_uc002mak.2_Missense_Mutation_p.E256K|SH3GL1_uc010xig.1_Missense_Mutation_p.E272K NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 320 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CCGTCGTTCTCGGGCTCGAAG 0.687 T MLL AL SH3GL1 6455 broad.mit.edu 37 19 4361778 4361778 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:4361778G>A uc002maj.2 - 10 1032 c.926C>T c.(925-927)CCG>CTG p.P309L SH3GL1_uc002mak.2_Missense_Mutation_p.P245L|SH3GL1_uc010xig.1_Missense_Mutation_p.P261L NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 309 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CTTGCAGCTCGGCTGGTCCAG 0.677 T MLL AL CHAF1A 10036 broad.mit.edu 37 19 4428859 4428859 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:4428859T>C uc002mal.2 + 8 1676 c.1576T>C c.(1576-1578)TCC>CCC p.S526P NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 526 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 p.S526F(1) 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) CACGCACGTTTCCACCCGGAA 0.602 Chromatin_Structure PLIN4 729359 broad.mit.edu 37 19 4511362 4511362 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:4511362G>A uc002mar.1 - 3 2568 c.2568C>T c.(2566-2568)ACC>ACT p.T856T PLIN4_uc010dub.1_Intron NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 856 27 X 33 AA approximate tandem repeat.|24. lipid particle|plasma membrane 0 TCGCAGCACCGGTCACCCCAC 0.587 KDM4B 23030 broad.mit.edu 37 19 5047640 5047640 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:5047640T>C uc002mbq.3 + 6 812 c.586T>C c.(586-588)TAC>CAC p.Y196H KDM4B_uc010xil.1_Missense_Mutation_p.Y196H|KDM4B_uc010xim.1_Missense_Mutation_p.Y196H NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 196 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 CATGGACCTGTACAGCATCAA 0.632 SAFB2 9667 broad.mit.edu 37 19 5587937 5587937 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:5587937G>A uc002mcd.2 - 19 2792 c.2580C>T c.(2578-2580)CGC>CGT p.R860R NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 860 Interacts with SAFB1.|Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CCTGCCAGGCGCGTGCCTGGT 0.662 C3 718 broad.mit.edu 37 19 6678248 6678248 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:6678248T>C uc002mfm.2 - 40 4827 c.4765A>G c.(4765-4767)AAG>GAG p.K1589E C3_uc002mfl.2_Missense_Mutation_p.K325E NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1589 NTR. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCTCTGCACTTGATGGGGCTG 0.582 C3 718 broad.mit.edu 37 19 6690640 6690640 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:6690640G>A uc002mfm.2 - 27 3551 c.3489C>T c.(3487-3489)AAC>AAT p.N1163N C3_uc002mfl.2_5'UTR NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1163 N->A: No effect on binding of C3d to CR2. Impaired binding of C3d to CR2; when associated with 1108-R-R-1109.|N->R: Impaired binding of C3d to CR2. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGGCACTTACGTTGACCTGCT 0.537 ARHGEF18 23370 broad.mit.edu 37 19 7523449 7523449 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:7523449G>A uc002mgi.2 + 9 1922 c.1669G>A c.(1669-1671)GCC>ACC p.A557T ARHGEF18_uc010xjm.1_Missense_Mutation_p.A399T|ARHGEF18_uc002mgh.2_Missense_Mutation_p.A399T|ARHGEF18_uc002mgj.1_Missense_Mutation_p.A200T NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 557 PH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) GAGGGAAGTGGCCAACGAGGA 0.542 MUC16 94025 broad.mit.edu 37 19 9049967 9049967 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:9049967C>A uc002mkp.2 - 5 31868 c.31664G>T c.(31663-31665)AGG>ATG p.R10555M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10557 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 TGGGGTTGTCCTGGGAAGAGC 0.483 MUC16 94025 broad.mit.edu 37 19 9083647 9083647 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:9083647T>C uc002mkp.2 - 1 8372 c.8168A>G c.(8167-8169)CAT>CGT p.H2723R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2723 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 GGAAGAAGGATGGAGTGGACT 0.468 SMARCA4 6597 broad.mit.edu 37 19 11097631 11097631 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:11097631G>A uc002mqf.3 + 5 1095 c.811G>A c.(811-813)GGG>AGG p.G271R SMARCA4_uc010dxp.2_Missense_Mutation_p.G271R|SMARCA4_uc010dxo.2_Missense_Mutation_p.G271R|SMARCA4_uc002mqg.1_Missense_Mutation_p.G271R|SMARCA4_uc010dxq.2_Missense_Mutation_p.G271R|SMARCA4_uc010dxr.2_Missense_Mutation_p.G271R|SMARCA4_uc002mqj.3_Missense_Mutation_p.G271R|SMARCA4_uc010dxs.2_Missense_Mutation_p.G271R|SMARCA4_uc002mqe.2_Missense_Mutation_p.G271R NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 271 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGTGCCCCCCGGGATGCCAGG 0.617 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome RGL3 57139 broad.mit.edu 37 19 11527510 11527510 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:11527510C>T uc002mrp.2 - 3 435 c.371G>A c.(370-372)GGG>GAG p.G124E RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Missense_Mutation_p.G124E|RGL3_uc002mrq.2_Missense_Mutation_p.G124E NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 124 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 CGCTACTGACCCGGGAGGTGG 0.622 PRKCSH 5589 broad.mit.edu 37 19 11552119 11552119 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:11552119C>T uc002mrt.2 + 6 751 c.415C>T c.(415-417)CGT>TGT p.R139C PRKCSH_uc002mru.2_Missense_Mutation_p.R139C|PRKCSH_uc010xlz.1_Missense_Mutation_p.R139C|PRKCSH_uc010dya.2_Silent_p.S107S|PRKCSH_uc002mrv.1_Missense_Mutation_p.R139C|PRKCSH_uc010dyb.2_Missense_Mutation_p.R139C NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 139 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 CGAAGGGTTCCGTCTGAAGAA 0.627 RAD23A 5886 broad.mit.edu 37 19 13063564 13063564 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:13063564C>T uc002mvw.1 + 8 984 c.875C>T c.(874-876)GCG>GTG p.A292V RAD23A_uc002mvx.1_Missense_Mutation_p.A291V|RAD23A_uc002mvz.1_Missense_Mutation_p.A291V|RAD23A_uc002mwa.1_Intron|RAD23A_uc002mvy.1_Missense_Mutation_p.A126V|RAD23A_uc010xmw.1_Missense_Mutation_p.A127V NM_005053 NP_005044 P54725 RD23A_HUMAN UV excision repair protein RAD23 homolog A 292 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1) 1 GGGGAGCTGGCGGACATCTCA 0.602 NER OR7C1 26664 broad.mit.edu 37 19 14910551 14910551 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:14910551G>A uc010xnz.1 - 1 398 c.398C>T c.(397-399)ACG>ATG p.T133M NM_198944 NP_945182 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, 133 Cytoplasmic (Potential). sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 CATGATGACCGTATAGTGCAG 0.522 CYP4F3 4051 broad.mit.edu 37 19 15752380 15752380 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:15752380C>T uc002nbj.2 + 2 205 c.155C>T c.(154-156)CCG>CTG p.P52L CYP4F3_uc010xok.1_Missense_Mutation_p.P52L|CYP4F3_uc010xol.1_Missense_Mutation_p.P52L|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Missense_Mutation_p.P52L NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 52 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 CGGTGTTTCCCGCAACCCCCG 0.637 OR10H2 26538 broad.mit.edu 37 19 15839703 15839703 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:15839703C>T uc002nbm.2 + 1 870 c.850C>T c.(850-852)CCC>TCC p.P284S NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) AGTCCTCACGCCCTTCCTCAG 0.552 CYP4F2 8529 broad.mit.edu 37 19 16003188 16003188 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:16003188C>T uc002nbs.1 - 5 506 c.456G>A c.(454-456)ACG>ACA p.T152T CYP4F2_uc010xot.1_Silent_p.T3T|CYP4F2_uc010xou.1_Silent_p.T3T NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 152 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 GGAAGGCAGGCGTCAGCATCC 0.552 CHERP 10523 broad.mit.edu 37 19 16632356 16632356 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:16632356G>A uc002nei.1 - 12 2164 c.2090C>T c.(2089-2091)CCG>CTG p.P697L MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.P236L NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 697 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 GTCGTGGGACGGGGGGCTGTA 0.667 MED26 9441 broad.mit.edu 37 19 16689216 16689216 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:16689216C>T uc002nen.1 - 2 338 c.77G>A c.(76-78)CGG>CAG p.R26Q MED26_uc002nee.2_RNA NM_004831 NP_004822 O95402 MED26_HUMAN mediator complex subunit 26 26 TFIIS N-terminal. regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity ovary(2) 2 CACCATGTTCCGGATCTGTGG 0.557 NWD1 284434 broad.mit.edu 37 19 16874647 16874647 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:16874647G>A uc002neu.3 + 9 2564 c.2142G>A c.(2140-2142)CCG>CCA p.P714P NWD1_uc002net.3_Silent_p.P579P|NWD1_uc002nev.3_Silent_p.P508P Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 714 ATP binding skin(3)|ovary(2)|pancreas(2) 7 AGGTGGCCCCGCAGCCTCTGT 0.572 PLVAP 83483 broad.mit.edu 37 19 17476311 17476311 + Silent SNP C C T rs150210307 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:17476311C>T uc002ngk.1 - 3 1013 c.963G>A c.(961-963)GCG>GCA p.A321A NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 321 Potential.|Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 CCTTCTGTTTCGCCTCCTGAC 0.667 KIAA1683 80726 broad.mit.edu 37 19 18368203 18368203 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:18368203C>T uc002nin.2 - 4 3546 c.3330G>A c.(3328-3330)CCG>CCA p.P1110P PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Silent_p.P1297P|KIAA1683_uc010xqe.1_Silent_p.P1064P|KIAA1683_uc010xqf.1_RNA NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 1110 mitochondrion ovary(2) 2 CCTGGCGATGCGGCTGCCTGG 0.662 KIAA1683 80726 broad.mit.edu 37 19 18368702 18368702 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:18368702C>T uc002nin.2 - 4 3047 c.2831G>A c.(2830-2832)CGC>CAC p.R944H PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1131H|KIAA1683_uc010xqe.1_Missense_Mutation_p.R898H|KIAA1683_uc010xqf.1_RNA NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 944 IQ 2. mitochondrion ovary(2) 2 CCGGATCCTGCGACGCGCCAG 0.672 ZNF101 94039 broad.mit.edu 37 19 19790992 19790992 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:19790992G>C uc002nni.1 + 4 1304 c.1194G>C c.(1192-1194)CAG>CAC p.Q398H ZNF101_uc010ecg.1_Missense_Mutation_p.Q278H|ZNF101_uc002nnj.1_Missense_Mutation_p.Q278H NM_033204 NP_149981 Q8IZC7 ZN101_HUMAN zinc finger protein 101 398 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ATTGTAAACAGTGTGGTAAAG 0.348 ZNF676 163223 broad.mit.edu 37 19 22363169 22363169 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:22363169T>C uc002nqs.1 - 3 1668 c.1350A>G c.(1348-1350)AAA>AAG p.K450K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 450 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTCTTCACATTTGTAGGGTT 0.438 ZNF676 163223 broad.mit.edu 37 19 22363511 22363511 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:22363511G>A uc002nqs.1 - 3 1326 c.1008C>T c.(1006-1008)CCC>CCT p.P336P NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CACATTTGTAGGGTTTCTCTC 0.408 ZNF676 163223 broad.mit.edu 37 19 22363521 22363521 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:22363521C>G uc002nqs.1 - 3 1316 c.998G>C c.(997-999)GGA>GCA p.G333A NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GGGTTTCTCTCCAGCATGAAT 0.403 ZNF676 163223 broad.mit.edu 37 19 22375886 22375886 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:22375886A>T uc002nqs.1 - 2 380 c.62T>A c.(61-63)ATC>AAC p.I21N NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CAGAAAAATGATCAGGTCTGG 0.403 ZNF91 7644 broad.mit.edu 37 19 23543818 23543818 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:23543818C>G uc002nre.2 - 4 2076 c.1963G>C c.(1963-1965)GAG>CAG p.E655Q ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.E623Q NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 655 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TAGGGTTTCTCTCCAGTATGA 0.388 ZNF681 148213 broad.mit.edu 37 19 23927062 23927062 + Silent SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:23927062A>C uc002nrk.3 - 4 1432 c.1290T>G c.(1288-1290)GCT>GCG p.A430A ZNF681_uc002nrl.3_Silent_p.A361A|ZNF681_uc002nrj.3_Silent_p.A361A NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 430 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ATTGGTTAGAAGCTTTGCCAC 0.373 CCNE1 898 broad.mit.edu 37 19 30313408 30313408 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:30313408G>T uc002nsn.2 + 11 1191 c.1008G>T c.(1006-1008)ATG>ATT p.M336I CCNE1_uc002nso.2_Missense_Mutation_p.M321I|CCNE1_uc002nsp.2_Missense_Mutation_p.M83I NM_001238 NP_001229 P24864 CCNE1_HUMAN cyclin E1 isoform 1 336 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity lung(2) 2 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) CATTTGCCATGGTTATAAGGG 0.502 MAG 4099 broad.mit.edu 37 19 35791095 35791095 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:35791095A>T uc002nyy.1 + 6 907 c.758A>T c.(757-759)GAG>GTG p.E253V MAG_uc002nyx.1_Missense_Mutation_p.E253V|MAG_uc010eds.1_Missense_Mutation_p.E228V|MAG_uc002nyz.1_Missense_Mutation_p.E253V NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 253 Ig-like C2-type 2.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GAGGCCATCGAGGGCTCCCAC 0.682 COX6B1 1340 broad.mit.edu 37 19 36149530 36149530 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:36149530C>T uc002oav.2 + 4 404 c.242C>T c.(241-243)ACG>ATG p.T81M NM_001863 NP_001854 P14854 CX6B1_HUMAN cytochrome c oxidase subunit VIb polypeptide 1 81 respiratory electron transport chain mitochondrial inner membrane|mitochondrial intermembrane space cytochrome-c oxidase activity 0 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCTGAAGGCACGTTTCCCGGG 0.552 ARHGAP33 115703 broad.mit.edu 37 19 36276343 36276343 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:36276343G>A uc002obr.1 + 19 1985 c.1900G>A c.(1900-1902)GCC>ACC p.A634T ARHGAP33_uc002obs.1_Missense_Mutation_p.A634T|ARHGAP33_uc002obt.1_Missense_Mutation_p.A498T|ARHGAP33_uc010eel.2_Missense_Mutation_p.A222T|ARHGAP33_uc002obv.1_Missense_Mutation_p.A222T NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 634 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 ACTGAGATCTGCCAAGAGCGA 0.657 ARHGAP33 115703 broad.mit.edu 37 19 36277956 36277956 + Nonsense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:36277956G>T uc002obr.1 + 20 2669 c.2584G>T c.(2584-2586)GGA>TGA p.G862* ARHGAP33_uc002obs.1_Nonsense_Mutation_p.G701*|ARHGAP33_uc002obt.1_Nonsense_Mutation_p.G726*|ARHGAP33_uc010eel.2_Nonsense_Mutation_p.G450*|ARHGAP33_uc002obv.1_Nonsense_Mutation_p.G450* NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 862 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 CAAGCTCCGGGGAGCCCAGGG 0.701 PRODH2 58510 broad.mit.edu 37 19 36293120 36293120 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:36293120T>C uc002obx.1 - 10 1417 c.1399A>G c.(1399-1401)ATG>GTG p.M467V NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 467 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) TGGTCACACATGCCCAGAAGT 0.562 APLP1 333 broad.mit.edu 37 19 36369799 36369799 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:36369799C>T uc002oce.2 + 15 1793 c.1655C>T c.(1654-1656)GCG>GTG p.A552V APLP1_uc010xsz.1_Missense_Mutation_p.A513V|APLP1_uc002ocf.2_Missense_Mutation_p.A553V|APLP1_uc002ocg.2_Missense_Mutation_p.A456V|APLP1_uc010xta.1_Missense_Mutation_p.A546V NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 552 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGGTGAATGCGTCTGTTCCA 0.527 ZNF527 84503 broad.mit.edu 37 19 37871245 37871245 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:37871245A>C uc010efk.1 + 4 338 c.227A>C c.(226-228)GAG>GCG p.E76A ZNF527_uc002ogf.3_Intron|ZNF527_uc010xtq.1_RNA|ZNF527_uc002oge.2_Missense_Mutation_p.E76A NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGATGGTGGAGAGAAAGATG 0.478 GGN 199720 broad.mit.edu 37 19 38876360 38876360 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:38876360G>A uc002oij.1 - 3 1677 c.1542C>T c.(1540-1542)CCC>CCT p.P514P GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.P431P NM_152657 NP_689870 Q86UU5 GGN_HUMAN gametogenetin 514 Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis 0 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) ccgcgggtgcgggcgcggaca 0.264 SUPT5H 6829 broad.mit.edu 37 19 39964163 39964163 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:39964163T>C uc002olo.3 + 25 2671 c.2492_splice c.e25+2 p.R831_splice SUPT5H_uc002olp.3_Splice_Site_p.R831_splice|SUPT5H_uc002olq.3_Splice_Site_p.R827_splice|SUPT5H_uc002oln.3_Splice_Site_p.R831_splice|SUPT5H_uc002olr.3_Splice_Site_p.R831_splice|SUPT5H_uc002ols.1_Splice_Site_p.R454_splice NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCCGTCACGGTGAGTCCAGGG 0.642 C19orf47 126526 broad.mit.edu 37 19 40832280 40832280 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:40832280G>A uc002oni.3 - 7 665 c.664C>T c.(664-666)CGC>TGC p.R222C C19orf47_uc002ong.2_Missense_Mutation_p.R81C|C19orf47_uc002onh.2_Missense_Mutation_p.R155C NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 222 ovary(1)|skin(1) 2 Lung(22;0.000636) TTGCGGGTGCGGGGTGTGGTG 0.637 SPTBN4 57731 broad.mit.edu 37 19 40993644 40993644 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:40993644G>T uc002ony.2 + 3 296 c.210G>T c.(208-210)TGG>TGT p.W70C SPTBN4_uc002onx.2_Missense_Mutation_p.W70C|SPTBN4_uc002onz.2_Missense_Mutation_p.W70C NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 70 CH 1.|Actin-binding. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCACCAAGTGGGTGAACTCGC 0.652 SHKBP1 92799 broad.mit.edu 37 19 41086826 41086826 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:41086826C>T uc002oob.2 + 9 877 c.828C>T c.(826-828)GGC>GGT p.G276G SHKBP1_uc002ooc.2_Silent_p.G276G|SHKBP1_uc002ood.2_Silent_p.G276G|SHKBP1_uc010xvl.1_Silent_p.G199G|SHKBP1_uc002ooe.2_Silent_p.G113G|SHKBP1_uc002oof.2_Silent_p.G113G|SHKBP1_uc010xvm.1_Silent_p.G113G|SHKBP1_uc010xvn.1_Silent_p.G154G NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 276 WD 1. voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGCGGAAGGCGGTGGCTCCG 0.547 RABAC1 10567 broad.mit.edu 37 19 42462889 42462889 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:42462889C>T uc002osf.2 - 2 352 c.268G>A c.(268-270)GTG>ATG p.V90M NM_006423 NP_006414 Q9UI14 PRAF1_HUMAN Rab acceptor 1 90 Helical; (By similarity). cell junction|Golgi apparatus|integral to membrane|synaptic vesicle identical protein binding 0 GGCACTCACACACAGTACAGG 0.353 ERF 2077 broad.mit.edu 37 19 42752808 42752808 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:42752808G>A uc002ote.3 - 4 1614 c.1456C>T c.(1456-1458)CGG>TGG p.R486W ERF_uc002otd.3_Missense_Mutation_p.R217W NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 486 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) CTCCAGCGCCGCTTAAAGCGT 0.682 ERF 2077 broad.mit.edu 37 19 42752834 42752834 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:42752834C>T uc002ote.3 - 4 1588 c.1430G>A c.(1429-1431)TGC>TAC p.C477Y ERF_uc002otd.3_Missense_Mutation_p.C208Y NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 477 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) GAGGGGCATGCACTGGGATGC 0.662 MEGF8 1954 broad.mit.edu 37 19 42848707 42848707 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:42848707G>A uc002otl.3 + 11 2538 c.1903G>A c.(1903-1905)GTG>ATG p.V635M MEGF8_uc002otm.3_Missense_Mutation_p.V176M NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 675 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GGGCTGGTGCGTGCACAATGA 0.721 LIPE 3991 broad.mit.edu 37 19 42914843 42914843 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:42914843C>T uc002otr.2 - 2 1312 c.1035G>A c.(1033-1035)GCG>GCA p.A345A uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.A90A NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 345 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) CCAGCCCCAGCGCCTGCTCCC 0.667 IRGC 56269 broad.mit.edu 37 19 44223764 44223764 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:44223764G>A uc002oxh.2 + 2 1201 c.1054G>A c.(1054-1056)GAC>AAC p.D352N NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 352 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) CCAGTCGTCCGACGGCGCCAT 0.657 PVR 5817 broad.mit.edu 37 19 45162145 45162145 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:45162145G>T uc002ozm.2 + 6 1426 c.1127G>T c.(1126-1128)TGG>TTG p.W376L PVR_uc010ejs.2_Missense_Mutation_p.W376L|PVR_uc010xxb.1_Intron|PVR_uc010xxc.1_Intron|PVR_uc002ozn.2_Missense_Mutation_p.W321L NM_006505 NP_006496 P15151 PVR_HUMAN poliovirus receptor isoform alpha 376 Cytoplasmic (Potential). adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity 0 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) GAGGTCCTTTGGCACTGTCAT 0.338 BCAM 4059 broad.mit.edu 37 19 45322873 45322873 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:45322873C>T uc002ozu.2 + 13 1697 c.1653C>T c.(1651-1653)GTC>GTT p.V551V BCAM_uc002ozt.1_Silent_p.V551V NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 551 Helical; (Potential). cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GAGTGGCCGTCATGGCCGTGG 0.692 ERCC2 2068 broad.mit.edu 37 19 45856040 45856040 + Silent SNP G G A rs16979773 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:45856040G>A uc002pbj.2 - 20 1913 c.1866C>T c.(1864-1866)GGC>GGT p.G622G ERCC2_uc002pbh.2_Silent_p.G185G|ERCC2_uc002pbi.2_Silent_p.G315G|ERCC2_uc010ejz.2_Silent_p.G544G|ERCC2_uc002pbk.2_Silent_p.G598G NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 622 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CGTAGGGGACGCCAAACATGA 0.617 Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum ZNF114 163071 broad.mit.edu 37 19 48789060 48789060 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:48789060C>T uc002pil.1 + 6 676 c.179C>T c.(178-180)CCG>CTG p.P60L ZNF114_uc010elv.1_Missense_Mutation_p.P60L|ZNF114_uc002pim.1_Missense_Mutation_p.P60L|ZNF114_uc002pin.2_Missense_Mutation_p.P26L NM_153608 NP_705836 Q8NC26 ZN114_HUMAN zinc finger protein 114 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) ACCCCTCAGCCGGATATTCTT 0.443 IZUMO1 284359 broad.mit.edu 37 19 49245072 49245072 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:49245072G>A uc002pkj.2 - 8 1276 c.728C>T c.(727-729)GCC>GTC p.A243V RASIP1_uc002pki.2_5'Flank|IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 precursor 243 Ig-like C2-type.|Extracellular (Potential). fusion of sperm to egg plasma membrane integral to membrane p.A243A(1) ovary(1) 1 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) GATGATCGTGGCTGGGCTGGA 0.622 SNRNP70 6625 broad.mit.edu 37 19 49601926 49601926 + Missense_Mutation SNP C C T rs11539820 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:49601926C>T uc002pmk.2 + 6 797 c.358C>T c.(358-360)CGG>TGG p.R120W SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.R120W|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA NM_003089 NP_003080 P08621 RU17_HUMAN U1 small nuclear ribonucleoprotein 70 kDa 120 RRM. nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 ATCCAAGCTCCGGAGAGAGTT 0.502 OREG0025616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IL4I1 259307 broad.mit.edu 37 19 50399296 50399296 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:50399296C>T uc002pqt.1 - 3 106 c.28G>A c.(28-30)GTC>ATC p.V10I IL4I1_uc002pqv.1_Missense_Mutation_p.V19I|IL4I1_uc010eno.1_Missense_Mutation_p.V18I|IL4I1_uc002pqw.1_Missense_Mutation_p.V18I|IL4I1_uc002pqu.1_Missense_Mutation_p.V32I NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 isoform 1 precursor 10 lysosome L-amino-acid oxidase activity lung(1)|ovary(1)|prostate(1) 3 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) gggacgaggacgaggaggtgc 0.458 NUP62 23636 broad.mit.edu 37 19 50412020 50412020 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:50412020G>A uc002pqx.2 - 2 1149 c.1045C>T c.(1045-1047)CGG>TGG p.R349W IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.R349W|NUP62_uc002pqz.2_Missense_Mutation_p.R349W|NUP62_uc002pra.2_Missense_Mutation_p.R349W|NUP62_uc002prb.2_Missense_Mutation_p.R349W|NUP62_uc002prc.2_Intron NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 349 Potential. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AGGAAGTGCCGCTCCTGGTCC 0.642 MYH14 79784 broad.mit.edu 37 19 50735186 50735186 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:50735186G>A uc002prr.1 + 9 997 c.950_splice c.e9-1 p.A317_splice MYH14_uc010enu.1_Splice_Site_p.A325_splice|MYH14_uc002prq.1_Splice_Site_p.A325_splice NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TGTCCCTGCAGCCGACCTCCT 0.607 MYBPC2 4606 broad.mit.edu 37 19 50951604 50951604 + Missense_Mutation SNP G G A rs144074433 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:50951604G>A uc002psf.2 + 13 1480 c.1429G>A c.(1429-1431)GAG>AAG p.E477K NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 477 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GAATGGGGTCGAGGTGCGGCC 0.527 LRRC4B 94030 broad.mit.edu 37 19 51021132 51021132 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:51021132C>T uc002pss.2 - 3 1975 c.1838G>A c.(1837-1839)CGC>CAC p.R613H NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 613 Cytoplasmic (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CTCCACGGTGCGCGTGGGCCC 0.706 KLK13 26085 broad.mit.edu 37 19 51561877 51561877 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:51561877T>C uc002pvn.2 - 4 606 c.563A>G c.(562-564)GAG>GGG p.E188G KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.E115G|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.E36G NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN kallikrein 13 precursor 188 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) TTGACGACACTCCTCATCTGA 0.512 FPR2 2358 broad.mit.edu 37 19 52272775 52272775 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:52272775C>T uc002pxr.2 + 2 909 c.864C>T c.(862-864)AGC>AGT p.S288S FPR2_uc002pxs.3_Silent_p.S288S|FPR2_uc010epf.2_Silent_p.S288S NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 288 Helical; Name=7; (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 ACCCAACGAGCTCCCTGGCCT 0.522 ZNF616 90317 broad.mit.edu 37 19 52619216 52619216 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:52619216G>A uc002pym.2 - 4 1484 c.1201C>T c.(1201-1203)CGA>TGA p.R401* ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 401 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) GTGTGAATTCGTCGATGCACT 0.423 ZNF808 388558 broad.mit.edu 37 19 53050886 53050886 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:53050886C>T uc010epq.1 + 4 362 c.185C>T c.(184-186)GCT>GTT p.A62V ZNF808_uc002pzq.2_Intron NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 62 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AACCTGGAGGCTGTGGGTGAG 0.483 ZNF808 388558 broad.mit.edu 37 19 53067360 53067360 + RNA SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:53067360G>T uc002pzq.2 + 4 c.3872G>T Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808, mRNA (cDNA clone IMAGE:3542548), complete cds. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AGGATTAAGCGGTTTCTGGCC 0.433 ZNF600 162966 broad.mit.edu 37 19 53269926 53269926 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:53269926A>G uc002qab.3 - 3 1369 c.1083T>C c.(1081-1083)AAT>AAC p.N361N NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 361 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TGCCACACTCATTACACTTGT 0.403 ZNF320 162967 broad.mit.edu 37 19 53385079 53385079 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:53385079C>T uc002qag.2 - 4 491 c.300G>A c.(298-300)CAG>CAA p.Q100Q ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.Q46Q|ZNF320_uc002qai.2_Silent_p.Q100Q NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) CTTCTTGCCACTGAAACACAA 0.403 ZNF765 91661 broad.mit.edu 37 19 53911017 53911017 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:53911017A>G uc010ydx.1 + 6 536 c.209A>G c.(208-210)CAT>CGT p.H70R ZNF765_uc002qbm.2_Missense_Mutation_p.H70R|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 70 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) GAAGTGTTCCATGCAGGGACA 0.363 SBK2 646643 broad.mit.edu 37 19 56042650 56042650 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:56042650C>T uc010ygc.1 - 2 316 c.316G>A c.(316-318)GAG>AAG p.E106K NM_001101401 NP_001094871 P0C263 SBK2_HUMAN SH3-binding domain kinase family, member 2 106 Protein kinase. ATP binding|protein serine/threonine kinase activity 0 ACACAGAACTCGTACAGGAAG 0.657 ZNF71 58491 broad.mit.edu 37 19 57133126 57133126 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:57133126G>A uc002qnm.3 + 3 709 c.471G>A c.(469-471)CCG>CCA p.P157P NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 157 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GAGAAAAGCCGTTTGAGTGTG 0.587 ZSCAN4 201516 broad.mit.edu 37 19 58189820 58189820 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:58189820T>C uc002qpu.2 + 5 1546 c.849T>C c.(847-849)CCT>CCC p.P283P NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 283 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGTCCTCCCCTGAGTCTGCCC 0.478 RPS5 6193 broad.mit.edu 37 19 58904820 58904820 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:58904820C>T uc002qsn.2 + 4 485 c.413C>T c.(412-414)GCT>GTT p.A138V RPS5_uc002qso.2_Missense_Mutation_p.A138V NM_001009 NP_001000 P46782 RS5_HUMAN ribosomal protein S5 138 endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|structural constituent of ribosome 0 all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176) AGACGACAGGCTGTGGATGTG 0.647 ZNF324 25799 broad.mit.edu 37 19 58980635 58980635 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:58980635G>A uc002qsw.1 + 2 177 c.83G>A c.(82-84)CGC>CAC p.R28H ZNF324_uc002qsx.1_5'Flank NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CTGTACCGCCGCGTGATGCTA 0.577 MZF1 7593 broad.mit.edu 37 19 59082545 59082545 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:59082545T>C uc002qto.2 - 2 773 c.212A>G c.(211-213)CAG>CGG p.Q71R LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.Q71R|MZF1_uc010euu.1_Missense_Mutation_p.Q112R NM_198055 NP_932172 P28698 MZF1_HUMAN zinc finger protein 42 isoform 2 71 SCAN box. viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) ACGCAGCCACTGGCGACACAG 0.667 TSSC1 7260 broad.mit.edu 37 2 3261132 3261132 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:3261132G>A uc002qxj.2 - 4 547 c.354C>T c.(352-354)AGC>AGT p.S118S TSSC1_uc002qxi.2_RNA NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 118 protein binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) TCTGTGCAGTGCTGGATGAAT 0.547 ASAP2 8853 broad.mit.edu 37 2 9491025 9491025 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:9491025G>A uc002qzh.2 + 12 1451 c.1111_splice c.e12+1 p.H371_splice ASAP2_uc002qzi.2_Splice_Site_p.H371_splice NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 CTCATTTCACGTAAGGCTCCC 0.507 TAF1B 9014 broad.mit.edu 37 2 10045054 10045054 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:10045054C>T uc002qzz.2 + 9 974 c.874C>T c.(874-876)CGT>TGT p.R292C TAF1B_uc010exc.2_Missense_Mutation_p.R292C|TAF1B_uc002qzy.3_Missense_Mutation_p.R292C|TAF1B_uc010yja.1_Missense_Mutation_p.R37C|TAF1B_uc010exd.2_Missense_Mutation_p.R37C NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 292 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGATTTGCCTCGTTTTCCAGA 0.378 RAD51AP2 729475 broad.mit.edu 37 2 17696566 17696566 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:17696566A>G uc002rcl.1 - 1 3141 c.3117T>C c.(3115-3117)AAT>AAC p.N1039N RAD51AP2_uc010exn.1_Silent_p.N1030N NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1039 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTTTGCCCATATTAGGACCTG 0.368 MSGN1 343930 broad.mit.edu 37 2 17997959 17997959 + Silent SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:17997959T>G uc010yjt.1 + 1 174 c.174T>G c.(172-174)TCT>TCG p.S58S NM_001105569 NP_001099039 A6NI15 MSGN1_HUMAN mesogenin 1 58 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCTATTCTTCTTCTCCCTGTC 0.652 NT5C1B 93034 broad.mit.edu 37 2 18765855 18765855 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:18765855G>A uc002rcz.2 - 5 932 c.828C>T c.(826-828)GAC>GAT p.D276D NT5C1B_uc002rcy.2_Silent_p.D276D|NT5C1B_uc010exr.2_Silent_p.D218D|NT5C1B_uc010yju.1_Silent_p.D216D|NT5C1B_uc002rda.2_Silent_p.D216D|NT5C1B_uc010yjv.1_Silent_p.D293D|NT5C1B_uc010yjw.1_Silent_p.D259D|NT5C1B_uc010exs.2_Silent_p.D278D|NT5C1B_uc002rdb.1_Silent_p.D68D NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 276 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) CCTCGTAGTCGTCCTCGTCCT 0.682 NCOA1 8648 broad.mit.edu 37 2 24929854 24929854 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:24929854C>T uc002rfk.2 + 11 1773 c.1515C>T c.(1513-1515)AAC>AAT p.N505N NCOA1_uc010eye.2_Silent_p.N505N|NCOA1_uc002rfi.2_Silent_p.N354N|NCOA1_uc002rfj.2_Silent_p.N505N|NCOA1_uc002rfl.2_Silent_p.N505N NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 505 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGATGCCAAACAATTCCTTTC 0.418 T PAX3 alveolar rhadomyosarcoma NCOA1 8648 broad.mit.edu 37 2 24974860 24974860 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:24974860C>T uc002rfk.2 + 18 3974 c.3716C>T c.(3715-3717)CCC>CTC p.P1239L NCOA1_uc010eye.2_Missense_Mutation_p.P1239L|NCOA1_uc002rfi.2_Missense_Mutation_p.P1088L|NCOA1_uc002rfj.2_Missense_Mutation_p.P1239L|NCOA1_uc002rfl.2_Missense_Mutation_p.P1239L|NCOA1_uc010eyf.2_Missense_Mutation_p.P132L NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 1239 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAATGGTTCCCCAAGGTGAG 0.418 T PAX3 alveolar rhadomyosarcoma ASXL2 55252 broad.mit.edu 37 2 25964955 25964955 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:25964955G>A uc002rgs.2 - 12 4472 c.4251C>T c.(4249-4251)TGC>TGT p.C1417C ASXL2_uc002rgt.1_Silent_p.C900C NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1417 PHD-type; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATCATCATGGCAGAAAGCGC 0.517 SLC5A6 8884 broad.mit.edu 37 2 27423438 27423438 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:27423438C>T uc002rjd.2 - 17 2165 c.1774G>A c.(1774-1776)GAC>AAC p.D592N SLC5A6_uc010eyv.1_Missense_Mutation_p.D592N NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 592 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) AGGCCAGTGTCGAGGTGGTCC 0.587 FOSL2 2355 broad.mit.edu 37 2 28631709 28631709 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:28631709G>T uc002rma.2 + 3 1247 c.438G>T c.(436-438)CGG>CGT p.R146R FOSL2_uc010ymi.1_Silent_p.R107R NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 146 Basic motif. cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) ACCGACGCCGGGAGCTGACAG 0.642 BIRC6 57448 broad.mit.edu 37 2 32800338 32800338 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:32800338T>C uc010ezu.2 + 66 13394 c.13260T>C c.(13258-13260)GGT>GGC p.G4420G NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4420 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CAGAGAACGGTGAAGAGGAAG 0.468 VIT 5212 broad.mit.edu 37 2 37035765 37035765 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:37035765G>A uc002rpl.2 + 15 1761 c.1540G>A c.(1540-1542)GTC>ATC p.V514I VIT_uc002rpm.2_Missense_Mutation_p.V492I|VIT_uc010ezv.2_Missense_Mutation_p.V470I|VIT_uc010ezw.2_Missense_Mutation_p.V471I NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 499 VWFA 2. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) CATTGGCTTCGTCATCGACGG 0.597 STRN 6801 broad.mit.edu 37 2 37129804 37129804 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:37129804C>T uc002rpn.2 - 5 591 c.582G>A c.(580-582)ACG>ACA p.T194T STRN_uc010ezx.2_Silent_p.T194T NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 194 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) CTTCCCTGTCCGTGACATCAC 0.418 HEATR5B 54497 broad.mit.edu 37 2 37208833 37208833 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:37208833C>T uc002rpp.1 - 36 6112 c.6016G>A c.(6016-6018)GCA>ACA p.A2006T HEATR5B_uc002rpo.1_Missense_Mutation_p.A318T|HEATR5B_uc010ezy.1_Missense_Mutation_p.A501T NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 2006 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) TTCTGGAGTGCAAACTCATGA 0.433 EIF2AK2 5610 broad.mit.edu 37 2 37334430 37334430 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:37334430G>A uc010ynh.1 - 17 2199 c.1642C>T c.(1642-1644)CGA>TGA p.R548* EIF2AK2_uc010fab.1_Nonsense_Mutation_p.R507*|EIF2AK2_uc010yng.1_Nonsense_Mutation_p.R505*|EIF2AK2_uc010fac.2_Nonsense_Mutation_p.R548* NM_002759 NP_002750 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha 548 evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity ovary(2)|lung(2)|pancreas(1) 5 all_hematologic(82;0.248) CATGTGTGTCGTTCATTTTTC 0.363 CEBPZ 10153 broad.mit.edu 37 2 37454928 37454928 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:37454928G>A uc002rpz.2 - 2 1438 c.1408C>T c.(1408-1410)CGG>TGG p.R470W NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 470 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) ACACAAGTCCGAAAAAAGCAA 0.348 TSPYL6 388951 broad.mit.edu 37 2 54483258 54483258 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:54483258C>T uc002rxr.2 - 1 152 c.31G>A c.(31-33)GCT>ACT p.A11T ACYP2_uc002rxq.3_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN TSPY-like 6 11 nucleosome assembly nucleus 0 TCGAGAGTAGCGGGGCTGTGA 0.597 SPTBN1 6711 broad.mit.edu 37 2 54877104 54877104 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:54877104A>T uc002rxu.2 + 26 5804 c.5555A>T c.(5554-5556)GAC>GTC p.D1852V SPTBN1_uc002rxx.2_Missense_Mutation_p.D1839V|SPTBN1_uc002rxy.2_5'Flank NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1852 Interaction with ANK2.|Spectrin 15. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) TTTGAGCATGACATCCAGGCT 0.517 C2orf86 51057 broad.mit.edu 37 2 63540407 63540407 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:63540407G>A uc002sch.2 - 13 2234 c.1788C>T c.(1786-1788)GAC>GAT p.D596D C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.D437D|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.D404D NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 596 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 GAGCACCAACGTCAACAGCTA 0.373 MDH1 4190 broad.mit.edu 37 2 63824675 63824675 + Silent SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:63824675A>C uc002scj.1 + 4 398 c.342A>C c.(340-342)GCA>GCC p.A114A MDH1_uc010ypv.1_Silent_p.A132A|MDH1_uc010ypw.1_Silent_p.A19A NM_005917 NP_005908 P40925 MDHC_HUMAN cytosolic malate dehydrogenase 114 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity kidney(2) 2 NADH(DB00157) CCCAGGGTGCAGCCTTAGATA 0.388 ARHGAP25 9938 broad.mit.edu 37 2 69045039 69045039 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:69045039A>G uc002seu.2 + 8 1277 c.913A>G c.(913-915)AAC>GAC p.N305D ARHGAP25_uc010fdg.2_Missense_Mutation_p.N306D|ARHGAP25_uc010yql.1_Missense_Mutation_p.N266D|ARHGAP25_uc002sev.2_Missense_Mutation_p.N299D|ARHGAP25_uc002sew.2_Missense_Mutation_p.N298D|ARHGAP25_uc002sex.2_Missense_Mutation_p.N299D|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_Missense_Mutation_p.N32D NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 305 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 CTGTGCTGTTAACAAGATGAG 0.493 CYP26B1 56603 broad.mit.edu 37 2 72362528 72362528 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:72362528G>A uc002sih.1 - 3 450 c.450C>T c.(448-450)AGC>AGT p.S150S CYP26B1_uc010yra.1_Silent_p.S133S|CYP26B1_uc010yrb.1_Silent_p.S75S NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 150 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 GGGCCTCGTGGCTGAAGATCT 0.617 EGR4 1961 broad.mit.edu 37 2 73518651 73518651 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:73518651C>T uc010yrj.1 - 2 1779 c.1704G>A c.(1702-1704)GCG>GCA p.A568A EGR4_uc010yrk.1_Silent_p.A567A NM_001965 NP_001956 Q05215 EGR4_HUMAN early growth response 4 464 intracellular nucleic acid binding|zinc ion binding 0 CCTCGGCGCGCGCCTTCTGCT 0.642 C2orf78 388960 broad.mit.edu 37 2 74043913 74043913 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:74043913C>T uc002sjr.1 + 3 2684 c.2563C>T c.(2563-2565)CGT>TGT p.R855C NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 855 ovary(2) 2 CCTCCAACCCCGTCCATGGAG 0.537 CTNNA2 1496 broad.mit.edu 37 2 80136908 80136908 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:80136908C>T uc010ysh.1 + 6 1046 c.1041C>T c.(1039-1041)AGC>AGT p.S347S CTNNA2_uc010yse.1_Silent_p.S347S|CTNNA2_uc010ysf.1_Silent_p.S347S|CTNNA2_uc010ysg.1_Silent_p.S347S NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 347 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ACCTGCTCAGCGAGTACATGA 0.562 SFTPB 6439 broad.mit.edu 37 2 85890587 85890587 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:85890587C>T uc002sqh.2 - 8 890 c.884G>A c.(883-885)CGA>CAA p.R295Q SFTPB_uc002sqi.2_Missense_Mutation_p.R303Q|SFTPB_uc002sqj.2_Missense_Mutation_p.R295Q|SFTPB_uc010ysw.1_5'Flank NM_198843 NP_942140 P07988 PSPB_HUMAN surfactant, pulmonary-associated protein B 295 Saposin B-type 3. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome ovary(1)|central_nervous_system(1) 2 CTCAGAGTCTCGCGGCAGCCA 0.612 SFTPB 6439 broad.mit.edu 37 2 85894899 85894899 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:85894899G>C uc002sqh.2 - 2 104 c.98C>G c.(97-99)GCC>GGC p.A33G SFTPB_uc002sqi.2_Missense_Mutation_p.A45G|SFTPB_uc002sqj.2_Missense_Mutation_p.A33G NM_198843 NP_942140 P07988 PSPB_HUMAN surfactant, pulmonary-associated protein B 33 Saposin A-type. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome ovary(1)|central_nervous_system(1) 2 AGGGCCCTGGGCACAGGCCAA 0.587 POLR1A 25885 broad.mit.edu 37 2 86292506 86292506 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:86292506C>T uc002sqs.2 - 14 2328 c.1949G>A c.(1948-1950)CGG>CAG p.R650Q POLR1A_uc010ytb.1_Missense_Mutation_p.R16Q NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 650 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 ATAGTGCTCCCGGGTGAAAAA 0.547 TEKT4 150483 broad.mit.edu 37 2 95539788 95539788 + Silent SNP C C T rs147190189 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:95539788C>T uc002stw.1 + 3 741 c.648C>T c.(646-648)TGC>TGT p.C216C uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 216 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 ACGAGACCTGCGGGCGCCACC 0.657 SNRNP200 23020 broad.mit.edu 37 2 96944058 96944058 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:96944058G>A uc002svu.2 - 39 5613 c.5527C>T c.(5527-5529)CGA>TGA p.R1843* SNRNP200_uc002svt.2_Nonsense_Mutation_p.R453*|SNRNP200_uc010yuj.1_RNA NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1843 SEC63 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 ATAAGCCCTCGCACCTTGGTC 0.507 FER1L5 90342 broad.mit.edu 37 2 97365388 97365388 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:97365388T>C uc010fia.2 + 42 4793 c.4793T>C c.(4792-4794)GTC>GCC p.V1598A FER1L5_uc002sws.3_Missense_Mutation_p.V316A|FER1L5_uc002swt.3_Missense_Mutation_p.V316A|FER1L5_uc010yus.1_Missense_Mutation_p.V315A NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1598 C2 5. integral to membrane ovary(1) 1 GGAACCACAGTCATCGACCTT 0.502 ANKRD23 200539 broad.mit.edu 37 2 97505471 97505471 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:97505471C>T uc002sxa.2 - 8 844 c.815G>A c.(814-816)CGG>CAG p.R272Q ANKRD23_uc002sxb.2_RNA|ANKRD23_uc002sxc.2_Missense_Mutation_p.R230Q NM_144994 NP_659431 Q86SG2 ANR23_HUMAN diabetes related ankyrin repeat protein 272 nucleus ovary(1) 1 CACCGCGTTCCGCACCCCCAG 0.682 RANBP2 5903 broad.mit.edu 37 2 109382947 109382947 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:109382947T>C uc002tem.3 + 20 6078 c.5952T>C c.(5950-5952)GGT>GGC p.G1984G NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1984 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CACAATACGGTAAAATGGCCA 0.393 SCTR 6344 broad.mit.edu 37 2 120231031 120231031 + Missense_Mutation SNP G G A rs144705246 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:120231031G>A uc002tma.2 - 4 629 c.403C>T c.(403-405)CGG>TGG p.R135W SCTR_uc002tlz.2_5'UTR NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 135 Extracellular (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) AGGCTTACCCGCTTCTCGTTG 0.592 SCTR 6344 broad.mit.edu 37 2 120236486 120236486 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:120236486C>A uc002tma.2 - 3 428 c.202G>T c.(202-204)GGG>TGG p.G68W SCTR_uc002tlz.2_5'UTR NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 68 Extracellular (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) TCCCACATCCCCTCACAACCT 0.597 TMEM177 80775 broad.mit.edu 37 2 120439310 120439310 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:120439310G>A uc010flg.1 + 2 1354 c.881G>A c.(880-882)CGC>CAC p.R294H TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.R294H|TMEM177_uc002tmd.2_Missense_Mutation_p.R294H|TMEM177_uc010flh.2_Intron NM_001105198 NP_001098668 Q53S58 TM177_HUMAN transmembrane protein 177 294 integral to membrane ovary(1) 1 Colorectal(110;0.196) TACACCACCCGCCGGGACTCT 0.577 MBD5 55777 broad.mit.edu 37 2 149226158 149226158 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:149226158G>T uc002twm.3 + 9 1634 c.646G>T c.(646-648)GGC>TGC p.G216C MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.G216C|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 216 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCCATTCCGTGGCAGCCATGG 0.532 MBD5 55777 broad.mit.edu 37 2 149240765 149240765 + Missense_Mutation SNP G G A rs116207524 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:149240765G>A uc002twm.3 + 10 3593 c.2605G>A c.(2605-2607)GTC>ATC p.V869I MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.V869I|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 869 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCAAGATGGCGTCATAGTCAC 0.493 NEB 4703 broad.mit.edu 37 2 152544188 152544188 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:152544188G>A uc010fnx.2 - 26 2666 c.2475C>T c.(2473-2475)GAC>GAT p.D825D NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 825 Nebulin 19. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGGGAATGGCGTCCACTTTAA 0.493 GALNT13 114805 broad.mit.edu 37 2 155102337 155102337 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:155102337C>T uc002tyr.3 + 7 1266 c.699C>T c.(697-699)GTC>GTT p.V233V GALNT13_uc002tyt.3_Silent_p.V233V|GALNT13_uc010foc.1_Silent_p.V52V|GALNT13_uc010fod.2_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 233 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 AAACGGTTGTCTGCCCTATCA 0.348 ACVR1C 130399 broad.mit.edu 37 2 158390497 158390497 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:158390497C>T uc002tzk.3 - 9 1658 c.1415G>A c.(1414-1416)CGC>CAC p.R472H ACVR1C_uc002tzl.3_Missense_Mutation_p.R392H|ACVR1C_uc010fof.2_Missense_Mutation_p.R315H|ACVR1C_uc010foe.2_Missense_Mutation_p.R422H NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 472 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 AGCAGTTAGGCGGGCCGCTCC 0.388 BAZ2B 29994 broad.mit.edu 37 2 160239212 160239212 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:160239212C>T uc002uao.2 - 25 4215 c.3863G>A c.(3862-3864)CGC>CAC p.R1288H BAZ2B_uc002uap.2_Missense_Mutation_p.R1252H NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TCTTCGCTTGCGTCCTGGAGT 0.338 BAZ2B 29994 broad.mit.edu 37 2 160295638 160295638 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:160295638C>T uc002uao.2 - 7 1134 c.782G>A c.(781-783)AGT>AAT p.S261N BAZ2B_uc002uap.2_Missense_Mutation_p.S259N|BAZ2B_uc002uas.1_Missense_Mutation_p.S198N|BAZ2B_uc002uau.1_Missense_Mutation_p.S259N|BAZ2B_uc002uaq.1_Missense_Mutation_p.S189N|BAZ2B_uc002uat.3_Missense_Mutation_p.S198N|BAZ2B_uc010fop.1_Missense_Mutation_p.S259N NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 261 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 ATCACTGCTACTAATGCCTTC 0.348 LY75 4065 broad.mit.edu 37 2 160755441 160755441 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:160755441A>G uc002ubc.3 - 2 293 c.224T>C c.(223-225)CTC>CCC p.L75P LY75_uc002ubb.3_Missense_Mutation_p.L75P|LY75_uc010fos.2_Missense_Mutation_p.L75P|LY75_uc010fot.1_Missense_Mutation_p.L75P NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 75 Extracellular (Potential).|Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) CAAATGAAAGAGCCGATGCTG 0.493 RBMS1 5937 broad.mit.edu 37 2 161157216 161157216 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:161157216C>T uc002ubo.2 - 6 1030 c.586G>A c.(586-588)GCT>ACT p.A196T RBMS1_uc002ubj.2_Missense_Mutation_p.A163T|RBMS1_uc002ubk.2_Missense_Mutation_p.A163T|RBMS1_uc002ubl.2_Missense_Mutation_p.A194T|RBMS1_uc002ubn.2_Missense_Mutation_p.A196T|RBMS1_uc002ubi.3_Missense_Mutation_p.A196T|RBMS1_uc002ubm.2_Missense_Mutation_p.A163T|RBMS1_uc002ubp.2_Missense_Mutation_p.A196T|RBMS1_uc010fox.2_Missense_Mutation_p.A196T NM_016836 NP_058520 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting 196 RRM 2. DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding 0 CCAATAACAGCTTCACATTTT 0.284 GCA 25801 broad.mit.edu 37 2 163215634 163215634 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:163215634G>T uc002ucg.2 + 6 711 c.535G>T c.(535-537)GTT>TTT p.V179F GCA_uc010zcu.1_Missense_Mutation_p.V160F NM_012198 NP_036330 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 179 EF-hand 4. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity 0 TGATGATTATGTTGCTTGCTG 0.313 COBLL1 22837 broad.mit.edu 37 2 165551064 165551064 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:165551064G>T uc010zcw.1 - 15 3277 c.3153C>A c.(3151-3153)GCC>GCA p.A1051A COBLL1_uc002ucp.2_Silent_p.A984A|COBLL1_uc002ucq.2_Silent_p.A946A|COBLL1_uc010zcx.1_Silent_p.A992A|COBLL1_uc002ucn.2_Silent_p.A412A|COBLL1_uc002uco.2_Silent_p.A715A NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 1022 ovary(2)|pancreas(1) 3 GAGGAGGGGAGGCTTCAGCAG 0.468 XIRP2 129446 broad.mit.edu 37 2 168106895 168106895 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:168106895A>G uc002udx.2 + 8 9011 c.8993A>G c.(8992-8994)CAC>CGC p.H2998R XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.H2823R|XIRP2_uc010fpq.2_Missense_Mutation_p.H2776R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.H344R NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2823 Potential. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TATGCAGTTCACATTGCCATG 0.328 LRP2 4036 broad.mit.edu 37 2 170055371 170055371 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:170055371A>T uc002ues.2 - 45 8716 c.8503T>A c.(8503-8505)TGT>AGT p.C2835S NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2835 LDL-receptor class A 19.|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) CGAGGAATACAAATATTTGAA 0.353 LRP2 4036 broad.mit.edu 37 2 170101368 170101368 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:170101368G>A uc002ues.2 - 22 3478 c.3265C>T c.(3265-3267)CGC>TGC p.R1089C LRP2_uc010zdf.1_Missense_Mutation_p.R952C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1089 LDL-receptor class A 9.|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) CAGTCGTTGCGTTTGTCACAG 0.512 DYNC1I2 1781 broad.mit.edu 37 2 172583353 172583353 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:172583353A>C uc002uha.1 + 11 1088 c.923A>C c.(922-924)GAG>GCG p.E308A DYNC1I2_uc002uhc.2_Missense_Mutation_p.E282A|DYNC1I2_uc002uhb.1_Missense_Mutation_p.E282A|DYNC1I2_uc010zds.1_Missense_Mutation_p.E300A|DYNC1I2_uc002uhd.1_Missense_Mutation_p.E302A|DYNC1I2_uc002uhe.1_Missense_Mutation_p.E308A|DYNC1I2_uc002uhf.1_Missense_Mutation_p.E282A|DYNC1I2_uc010zdt.1_Missense_Mutation_p.E300A|DYNC1I2_uc002uhg.1_Missense_Mutation_p.E223A|DYNC1I2_uc010zdu.1_Missense_Mutation_p.E31A NM_001378 NP_001369 Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 308 WD 1. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.198) GCCCCTCATGAGCCTGATGGT 0.418 CHN1 1123 broad.mit.edu 37 2 175664964 175664964 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:175664964G>A uc002uji.2 - 13 1790 c.1260C>T c.(1258-1260)ATC>ATT p.I420I CHN1_uc010zeq.1_Silent_p.I394I|CHN1_uc002ujj.2_Silent_p.I195I|CHN1_uc002ujg.2_Silent_p.I295I NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 420 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) GTCCAAAGACGATTCCAAGGT 0.428 T TAF15 extraskeletal myxoid chondrosarcoma TTN 7273 broad.mit.edu 37 2 179428524 179428524 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:179428524C>T uc010zfg.1 - 275 74855 c.74631G>A c.(74629-74631)ATG>ATA p.M24877I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M18572I|TTN_uc010zfi.1_Missense_Mutation_p.M18505I|TTN_uc010zfj.1_Missense_Mutation_p.M18380I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25804 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) TATTCACAGCCATGACACGGA 0.468 TTN 7273 broad.mit.edu 37 2 179434204 179434204 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:179434204C>T uc010zfg.1 - 275 69175 c.68951G>A c.(68950-68952)CGA>CAA p.R22984Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16679Q|TTN_uc010zfi.1_Missense_Mutation_p.R16612Q|TTN_uc010zfj.1_Missense_Mutation_p.R16487Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23911 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) AGCTGCATCTCGGATTTCACC 0.388 TTN 7273 broad.mit.edu 37 2 179460530 179460530 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:179460530G>A uc010zfg.1 - 244 50071 c.49847C>T c.(49846-49848)CCA>CTA p.P16616L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P10311L|TTN_uc010zfi.1_Missense_Mutation_p.P10244L|TTN_uc010zfj.1_Missense_Mutation_p.P10119L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17543 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) AACGGGACCTGGAACATCTGG 0.393 TTN 7273 broad.mit.edu 37 2 179472135 179472135 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:179472135T>G uc010zfg.1 - 226 45800 c.45576A>C c.(45574-45576)GAA>GAC p.E15192D uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8887D|TTN_uc010zfi.1_Missense_Mutation_p.E8820D|TTN_uc010zfj.1_Missense_Mutation_p.E8695D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16119 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) TACCAAAAACTTCTACCCTGG 0.383 TTN 7273 broad.mit.edu 37 2 179552924 179552924 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:179552924G>A uc010zfg.1 - 124 28717 c.28493C>T c.(28492-28494)TCA>TTA p.S9498L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S6159L|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10425 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) CTCCTCTTCTGAGTAACTCCA 0.393 TTN 7273 broad.mit.edu 37 2 179605532 179605532 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:179605532A>G uc010zfh.1 - 46 12139 c.11915T>C c.(11914-11916)CTC>CCC p.L3972P TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3905P|TTN_uc010zfj.1_Missense_Mutation_p.L3780P|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TGGTTCCTTGAGAGGCTGAAA 0.468 TTN 7273 broad.mit.edu 37 2 179628939 179628939 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:179628939T>C uc010zfg.1 - 43 10303 c.10079A>G c.(10078-10080)CAG>CGG p.Q3360R TTN_uc010zfh.1_Missense_Mutation_p.Q3314R|TTN_uc010zfi.1_Missense_Mutation_p.Q3314R|TTN_uc010zfj.1_Missense_Mutation_p.Q3314R|TTN_uc002umz.1_Missense_Mutation_p.Q21R|TTN_uc002unb.2_Missense_Mutation_p.Q3360R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) ACGGGCTGGCTGCCCTTCAGA 0.443 SESTD1 91404 broad.mit.edu 37 2 179986571 179986571 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:179986571A>T uc002uni.3 - 13 1518 c.1368T>A c.(1366-1368)GAT>GAA p.D456E SESTD1_uc002unh.3_5'UTR NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 456 Spectrin 2. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) CAATGGTTACATCCTTTCCAT 0.393 SSFA2 6744 broad.mit.edu 37 2 182786912 182786912 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:182786912C>T uc002uoi.2 + 16 3770 c.3448C>T c.(3448-3450)CGA>TGA p.R1150* SSFA2_uc002uoh.2_Nonsense_Mutation_p.R1150*|SSFA2_uc002uoj.2_Nonsense_Mutation_p.R1128*|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Nonsense_Mutation_p.R975*|SSFA2_uc002uol.2_Nonsense_Mutation_p.R997*|SSFA2_uc002uom.2_Nonsense_Mutation_p.R614* NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 1150 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GAAAGTGTTCCGAGCATCGGT 0.498 PPP1R1C 151242 broad.mit.edu 37 2 182852584 182852584 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:182852584A>G uc002uoo.2 + 2 387 c.100A>G c.(100-102)ACA>GCA p.T34A PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Missense_Mutation_p.T34A|PPP1R1C_uc010frm.1_Missense_Mutation_p.T41A|PPP1R1C_uc010frn.1_RNA NM_001080545 NP_001074014 Q8WVI7 PPR1C_HUMAN protein phosphatase 1, regulatory (inhibitor) 34 signal transduction cytoplasm protein phosphatase inhibitor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0628) AAGAAGACCTACACCAGCATC 0.428 NCKAP1 10787 broad.mit.edu 37 2 183822241 183822241 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:183822241A>G uc002upc.2 - 19 2367 c.1965T>C c.(1963-1965)CCT>CCC p.P655P NCKAP1_uc002upb.2_Silent_p.P661P NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 655 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TCTCCCTTTCAGGTTCCCCTT 0.383 ANKRD44 91526 broad.mit.edu 37 2 197878289 197878289 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:197878289C>T uc002uua.1 - 18 1872 c.1795G>A c.(1795-1797)GCA>ACA p.A599T ANKRD44_uc002utz.3_Missense_Mutation_p.A331T NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 624 ANK 18. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) AAGATGGATGCGCCCTGATTG 0.498 TRAK2 66008 broad.mit.edu 37 2 202272204 202272204 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:202272204T>C uc002uyb.3 - 3 654 c.208A>G c.(208-210)ACT>GCT p.T70A TRAK2_uc002uyc.2_Missense_Mutation_p.T70A NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 70 early endosome|plasma membrane GABA receptor binding 0 GGAGACTGAGTCCAGTCTTGA 0.438 BMPR2 659 broad.mit.edu 37 2 203384875 203384875 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:203384875T>G uc002uzf.3 + 7 2066 c.918T>G c.(916-918)CAT>CAG p.H306Q BMPR2_uc010ftr.2_Missense_Mutation_p.H306Q NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 306 Protein kinase.|Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 GTCTTGCTCATTCTGTTACTA 0.383 NBEAL1 65065 broad.mit.edu 37 2 204045236 204045236 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:204045236G>A uc002uzt.3 + 42 6841 c.6508_splice c.e42+1 p.Q2170_splice NBEAL1_uc002uzs.3_Splice_Site_p.Q880_splice NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 binding ovary(1)|skin(1) 2 AATCAAAATCGTAAGAAATAG 0.338 NBEAL1 65065 broad.mit.edu 37 2 204075771 204075771 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:204075771G>A uc002uzt.3 + 53 8122 c.7789G>A c.(7789-7791)GGA>AGA p.G2597R NBEAL1_uc002uzs.3_Missense_Mutation_p.G1238R|NBEAL1_uc002uzu.2_Missense_Mutation_p.G92R NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2597 binding ovary(1)|skin(1) 2 ATGTATAATCGGAGAACACAT 0.348 ABCA12 26154 broad.mit.edu 37 2 215823039 215823039 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:215823039C>T uc002vew.2 - 41 6299 c.6079G>A c.(6079-6081)GTG>ATG p.V2027M ABCA12_uc002vev.2_Missense_Mutation_p.V1709M|ABCA12_uc010zjn.1_Missense_Mutation_p.V954M NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2027 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) TAGCATGTCACGCCAATGCCT 0.428 FN1 2335 broad.mit.edu 37 2 216226782 216226782 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:216226782G>A uc002vfa.2 - 45 7538 c.7272C>T c.(7270-7272)TGC>TGT p.C2424C FN1_uc002vfb.2_Silent_p.C2212C|FN1_uc002vfc.2_Silent_p.C2187C|FN1_uc002vfd.2_Silent_p.C2368C|FN1_uc002vfe.2_Silent_p.C2302C|FN1_uc002vff.2_Silent_p.C2277C|FN1_uc002vfg.2_Silent_p.C2243C|FN1_uc002vfh.2_Silent_p.C2123C|FN1_uc002vfi.2_Silent_p.C2393C|FN1_uc002vfj.2_Silent_p.C2214C|FN1_uc002vez.2_Silent_p.C587C|FN1_uc010zjp.1_Silent_p.C961C NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 2333 Fibrin-binding 2.|Fibronectin type-I 12. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGGTCTGCGGCAGTTGTCAC 0.478 FN1 2335 broad.mit.edu 37 2 216229623 216229623 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:216229623G>A uc002vfa.2 - 44 7496 c.7230C>T c.(7228-7230)TGC>TGT p.C2410C FN1_uc002vfb.2_Silent_p.C2198C|FN1_uc002vfc.2_Silent_p.C2173C|FN1_uc002vfd.2_Silent_p.C2354C|FN1_uc002vfe.2_Silent_p.C2288C|FN1_uc002vff.2_Silent_p.C2263C|FN1_uc002vfg.2_Silent_p.C2229C|FN1_uc002vfh.2_Silent_p.C2109C|FN1_uc002vfi.2_Silent_p.C2379C|FN1_uc002vfj.2_Silent_p.C2200C|FN1_uc002vez.2_Silent_p.C573C|FN1_uc010zjp.1_Silent_p.C947C|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 2319 Fibrin-binding 2.|Fibronectin type-I 12. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAAGCATGTGCAGGAGCAAA 0.498 FN1 2335 broad.mit.edu 37 2 216248175 216248175 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:216248175G>A uc002vfa.2 - 31 5192 c.4926C>T c.(4924-4926)ACC>ACT p.T1642T FN1_uc002vfb.2_Silent_p.T1551T|FN1_uc002vfc.2_Silent_p.T1551T|FN1_uc002vfd.2_Silent_p.T1642T|FN1_uc002vfe.2_Silent_p.T1551T|FN1_uc002vff.2_Silent_p.T1551T|FN1_uc002vfg.2_Silent_p.T1551T|FN1_uc002vfh.2_Silent_p.T1551T|FN1_uc002vfi.2_Silent_p.T1642T|FN1_uc002vfj.2_Silent_p.T1642T|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Silent_p.T269T|FN1_uc010fvc.1_Silent_p.T4T|FN1_uc010fvd.1_Silent_p.T4T NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1641 Fibronectin type-III 12; extra domain. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGAACATCGGTCACTTGCA 0.473 FN1 2335 broad.mit.edu 37 2 216262429 216262429 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:216262429G>A uc002vfa.2 - 22 3757 c.3491C>T c.(3490-3492)GCG>GTG p.A1164V FN1_uc002vfb.2_Missense_Mutation_p.A1164V|FN1_uc002vfc.2_Missense_Mutation_p.A1164V|FN1_uc002vfd.2_Missense_Mutation_p.A1164V|FN1_uc002vfe.2_Missense_Mutation_p.A1164V|FN1_uc002vff.2_Missense_Mutation_p.A1164V|FN1_uc002vfg.2_Missense_Mutation_p.A1164V|FN1_uc002vfh.2_Missense_Mutation_p.A1164V|FN1_uc002vfi.2_Missense_Mutation_p.A1164V|FN1_uc002vfj.2_Missense_Mutation_p.A1164V NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1164 |Fibronectin type-III 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACAATTGGCGCATCTCTTTC 0.403 SMARCAL1 50485 broad.mit.edu 37 2 217285159 217285159 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:217285159C>T uc002vgc.3 + 5 1330 c.1000C>T c.(1000-1002)CGA>TGA p.R334* SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Nonsense_Mutation_p.R334*|SMARCAL1_uc010fvg.2_Nonsense_Mutation_p.R334* NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 334 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) TGTCAAAGGGCGATGCATGCT 0.527 Schimke_Immuno-Osseous_Dysplasia TNS1 7145 broad.mit.edu 37 2 218713378 218713378 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:218713378C>T uc002vgt.2 - 17 1885 c.1487G>A c.(1486-1488)CGG>CAG p.R496Q TNS1_uc002vgr.2_Missense_Mutation_p.R496Q|TNS1_uc002vgs.2_Missense_Mutation_p.R496Q|TNS1_uc010zjv.1_Missense_Mutation_p.R496Q|TNS1_uc010fvj.1_Missense_Mutation_p.R564Q|TNS1_uc010fvk.1_Missense_Mutation_p.R621Q|TNS1_uc010fvi.1_Missense_Mutation_p.R183Q NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 496 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GTCTGTCTCCCGCTCAGATGC 0.617 PAX3 5077 broad.mit.edu 37 2 223159014 223159014 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:223159014G>T uc010fwo.2 - 4 824 c.458C>A c.(457-459)TCC>TAC p.S153Y PAX3_uc002vmt.1_Missense_Mutation_p.S153Y|PAX3_uc002vmy.1_Missense_Mutation_p.S152Y|PAX3_uc002vmv.1_Missense_Mutation_p.S153Y|PAX3_uc002vmw.1_Missense_Mutation_p.S153Y|PAX3_uc002vmx.1_Missense_Mutation_p.S153Y|PAX3_uc002vmz.1_Missense_Mutation_p.S153Y|PAX3_uc002vna.1_Missense_Mutation_p.S153Y NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 153 Paired. 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) GCGGCTGATGGAACTCACTGG 0.592 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome FARSB 10056 broad.mit.edu 37 2 223505594 223505594 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:223505594A>C uc002vne.1 - 4 361 c.326T>G c.(325-327)ATT>AGT p.I109S FARSB_uc010zlq.1_Missense_Mutation_p.I129S|FARSB_uc002vnf.1_Missense_Mutation_p.I10S NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 109 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding ovary(1) 1 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TTCTGTGATAATCAATTTCTG 0.289 SCG2 7857 broad.mit.edu 37 2 224463172 224463172 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:224463172G>C uc002vnm.2 - 2 962 c.829C>G c.(829-831)CAA>GAA p.Q277E NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 277 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TCGTTGATTTGTTCATTTTTT 0.448 FAM124B 79843 broad.mit.edu 37 2 225265913 225265913 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:225265913C>T uc002vnx.2 - 1 799 c.573G>A c.(571-573)CTG>CTA p.L191L FAM124B_uc002vnw.2_Silent_p.L191L NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 191 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) TTCCCGGGGGCAGCTGCTTCA 0.522 COL4A3 1285 broad.mit.edu 37 2 228153918 228153918 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:228153918A>G uc002vom.1 + 35 3096 c.2934A>G c.(2932-2934)CCA>CCG p.P978P COL4A3_uc002von.1_Silent_p.P978P|COL4A3_uc002voo.1_Silent_p.P978P|COL4A3_uc002vop.1_Silent_p.P978P|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 978 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CAGGGATGCCAGGTTTAAAGG 0.403 MFF 56947 broad.mit.edu 37 2 228211948 228211948 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:228211948A>G uc002vos.2 + 8 1018 c.600A>G c.(598-600)ACA>ACG p.T200T MFF_uc002vot.2_Silent_p.T149T|MFF_uc002vou.2_Intron|MFF_uc002vov.2_Intron|MFF_uc002vow.2_Intron|MFF_uc002vox.2_Intron|MFF_uc002voy.2_Silent_p.T200T|MFF_uc002voz.2_Intron|MFF_uc002vpa.2_5'UTR NM_020194 NP_064579 Q9GZY8 MFF_HUMAN mitochondrial fission factor 200 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane large_intestine(1) 1 ACAGTGTGACACCATCGCCAC 0.418 TM4SF20 79853 broad.mit.edu 37 2 228228629 228228629 + Silent SNP C C T rs141014397 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:228228629C>T uc002vpb.2 - 4 539 c.501G>A c.(499-501)GCG>GCA p.A167A NM_024795 NP_079071 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 167 Extracellular (Potential). integral to membrane|plasma membrane 0 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) TCCAGCCACTCGCCATGGTGT 0.423 PID1 55022 broad.mit.edu 37 2 229890462 229890462 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:229890462G>A uc002vpr.3 - 3 677 c.639C>T c.(637-639)CAC>CAT p.H213H PID1_uc002vps.3_Silent_p.H211H|PID1_uc002vpt.3_Silent_p.H180H|PID1_uc002vpu.3_Silent_p.H131H NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 213 PID. cytoplasm breast(3)|skin(1) 4 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) CCATCATGGCGTGGGCCAGTT 0.567 PID1 55022 broad.mit.edu 37 2 230020592 230020592 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:230020592G>A uc002vpr.3 - 2 256 c.218C>T c.(217-219)GCC>GTC p.A73V PID1_uc002vps.3_Missense_Mutation_p.A71V|PID1_uc002vpt.3_Missense_Mutation_p.A40V|PID1_uc002vpu.3_Intron NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 73 cytoplasm breast(3)|skin(1) 4 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) CAGCTCAATGGCCTCCGGCTC 0.517 SP100 6672 broad.mit.edu 37 2 231313824 231313824 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:231313824G>A uc002vqt.2 + 6 686 c.545G>A c.(544-546)CGA>CAA p.R182Q SP100_uc002vqs.2_Missense_Mutation_p.R182Q|SP100_uc002vqu.1_Missense_Mutation_p.R182Q|SP100_uc010zmb.1_Missense_Mutation_p.R182Q|SP100_uc002vqq.1_Missense_Mutation_p.R182Q|SP100_uc002vqr.1_Missense_Mutation_p.R157Q|SP100_uc010zmc.1_Missense_Mutation_p.R157Q|SP100_uc002vqv.1_Missense_Mutation_p.R146Q NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 182 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AACTCTTTTCGAAGCCTGACT 0.448 B3GNT7 93010 broad.mit.edu 37 2 232263030 232263030 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:232263030C>T uc002vrs.2 + 2 780 c.600C>T c.(598-600)TAC>TAT p.Y200Y NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal 200 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) ACCGCCTCTACGGCGACATCC 0.637 GBX2 2637 broad.mit.edu 37 2 237074908 237074908 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:237074908C>T uc002vvw.1 - 2 734 c.696G>A c.(694-696)CCG>CCA p.P232P GBX2_uc010zng.1_3'UTR NM_001485 NP_001476 P52951 GBX2_HUMAN gastrulation brain homeo box 2 232 QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) CGCTGCTCGGCGGGGTCTCCT 0.667 COL6A3 1293 broad.mit.edu 37 2 238253469 238253469 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:238253469C>T uc002vwl.2 - 36 7477 c.7192G>A c.(7192-7194)GTC>ATC p.V2398I COL6A3_uc002vwo.2_Missense_Mutation_p.V2192I|COL6A3_uc010znj.1_Missense_Mutation_p.V1791I|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.V219I NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2398 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) GTTGGGAAGACGGGGCACTCC 0.498 COL6A3 1293 broad.mit.edu 37 2 238277420 238277420 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:238277420C>A uc002vwl.2 - 10 4971 c.4686G>T c.(4684-4686)GTG>GTT p.V1562V COL6A3_uc002vwo.2_Silent_p.V1356V|COL6A3_uc010znj.1_Silent_p.V955V NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1562 VWFA 8.|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) AGGAACGGATCACCTGGGCGA 0.572 PER2 8864 broad.mit.edu 37 2 239167156 239167156 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:239167156C>A uc002vyc.2 - 15 1994 c.1757G>T c.(1756-1758)TGC>TTC p.C586F PER2_uc010znv.1_Missense_Mutation_p.C586F NM_022817 NP_073728 O15055 PER2_HUMAN period 2 586 CSNK1E binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GCTGTCCAAGCAGCTGATCTG 0.582 HDLBP 3069 broad.mit.edu 37 2 242194469 242194469 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:242194469T>C uc002waz.2 - 9 1413 c.1185A>G c.(1183-1185)CCA>CCG p.P395P HDLBP_uc002wba.2_Silent_p.P395P|HDLBP_uc002wbb.2_Silent_p.P347P|HDLBP_uc010fzn.1_Silent_p.P124P NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 395 KH 4. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TCCTTACCTTTGGCATCTGCT 0.463 DEFB126 81623 broad.mit.edu 37 20 126315 126315 + Silent SNP C C T rs11467417 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:126315C>T uc002wcx.2 + 2 336 c.318C>T c.(316-318)CCC>CCT p.P106P NM_030931 NP_112193 Q9BYW3 DB126_HUMAN defensin, beta 126 preproprotein 106 defense response to bacterium extracellular region 0 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) CTCCTACCCCCGTTTCTCCCA 0.388 SIGLEC1 6614 broad.mit.edu 37 20 3669851 3669851 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:3669851C>T uc002wja.2 - 20 5021 c.5021G>A c.(5020-5022)AGC>AAC p.S1674N SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Intron NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1674 Cytoplasmic (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 CTCGCCCATGCTCTGCTTACA 0.572 MAVS 57506 broad.mit.edu 37 20 3846576 3846576 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:3846576C>A uc002wjw.3 + 7 1574 c.1405C>A c.(1405-1407)CAC>AAC p.H469N MAVS_uc002wjx.3_Missense_Mutation_p.H328N|MAVS_uc002wjy.3_Missense_Mutation_p.H167N NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 469 Cytoplasmic (Probable). activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 CTTTGGGATCCACGTGGCTGA 0.642 LRRN4 164312 broad.mit.edu 37 20 6021879 6021879 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:6021879C>T uc002wmo.2 - 5 2236 c.2012G>A c.(2011-2013)TGC>TAC p.C671Y NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 671 Extracellular (Potential). integral to membrane skin(3) 3 GAAGGCGGCGCACGGGCTCCT 0.711 JAG1 182 broad.mit.edu 37 20 10625879 10625879 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:10625879C>T uc002wnw.2 - 17 2655 c.2139G>A c.(2137-2139)ACG>ACA p.T713T JAG1_uc010gcd.1_Silent_p.T271T NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 713 Extracellular (Potential).|EGF-like 13. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 CGTTGTTGCACGTGGCCTCAT 0.527 Alagille_Syndrome JAG1 182 broad.mit.edu 37 20 10628735 10628735 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:10628735A>G uc002wnw.2 - 13 2109 c.1593T>C c.(1591-1593)CCT>CCC p.P531P JAG1_uc010gcd.1_Silent_p.P89P NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 531 Extracellular (Potential).|EGF-like 9. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 GGCAGGGATTAGGCTCACAAT 0.512 Alagille_Syndrome SPTLC3 55304 broad.mit.edu 37 20 13098152 13098152 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:13098152G>A uc002wod.1 + 8 1222 c.933_splice c.e8-1 p.S311_splice NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) TTCTGCCCTAGCATGGAAGGT 0.473 XRN2 22803 broad.mit.edu 37 20 21329003 21329003 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:21329003G>A uc002wsf.1 + 19 1893 c.1798G>A c.(1798-1800)GGG>AGG p.G600R XRN2_uc002wsg.1_Missense_Mutation_p.G524R|XRN2_uc010zsk.1_Missense_Mutation_p.G546R NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 600 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 ACAACTTATGGGGGTATTTCC 0.368 XRN2 22803 broad.mit.edu 37 20 21346276 21346276 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:21346276C>G uc002wsf.1 + 26 2485 c.2390C>G c.(2389-2391)CCT>CGT p.P797R XRN2_uc002wsg.1_Missense_Mutation_p.P721R|XRN2_uc010zsk.1_Missense_Mutation_p.P743R NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 797 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 CAGTGGAAGCCTCAGCTTGGC 0.483 NAPB 63908 broad.mit.edu 37 20 23377795 23377795 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:23377795T>C uc002wta.2 - 3 326 c.209A>G c.(208-210)AAG>AGG p.K70R NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Missense_Mutation_p.K74R|NAPB_uc002wtd.3_RNA|NAPB_uc010zss.1_5'Flank|NAPB_uc010zst.1_Intron NM_022080 NP_071363 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment 70 intracellular protein transport|vesicle-mediated transport membrane ovary(1) 1 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) CATGTGGAGCTTGGCTGCCTG 0.502 CST9L 128821 broad.mit.edu 37 20 23545639 23545639 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:23545639G>T uc002wtk.3 - 3 689 c.390C>A c.(388-390)CCC>CCA p.P130P NM_080610 NP_542177 Q9H4G1 CST9L_HUMAN cystatin 9-like precursor 130 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) GAGTCATCCAGGGCCTGGTGC 0.552 KIF3B 9371 broad.mit.edu 37 20 30897800 30897800 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:30897800G>A uc002wxq.2 + 2 387 c.220G>A c.(220-222)GAT>AAT p.D74N KIF3B_uc010ztv.1_Missense_Mutation_p.D74N|KIF3B_uc010ztw.1_Missense_Mutation_p.D74N NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 74 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGAACTGTACGATGAGACGTT 0.488 KIF3B 9371 broad.mit.edu 37 20 30898711 30898711 + Missense_Mutation SNP G G T rs1923098 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:30898711G>T uc002wxq.2 + 2 1298 c.1131G>T c.(1129-1131)AGG>AGT p.R377S KIF3B_uc010ztv.1_Intron|KIF3B_uc010ztw.1_Intron NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 377 Potential. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TTGGTAGGAGGAAGAGGCGAG 0.448 NCOA6 23054 broad.mit.edu 37 20 33337956 33337956 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:33337956T>C uc002xav.2 - 10 4613 c.2042A>G c.(2041-2043)AAG>AGG p.K681R NCOA6_uc002xaw.2_Missense_Mutation_p.K681R NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 681 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 AAGCATCTGCTTGGGTGGGGT 0.567 NCOA6 23054 broad.mit.edu 37 20 33345770 33345770 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:33345770G>A uc002xav.2 - 8 3352 c.781C>T c.(781-783)CAG>TAG p.Q261* NCOA6_uc002xaw.2_Nonsense_Mutation_p.Q261*|NCOA6_uc010gew.1_Nonsense_Mutation_p.Q218* NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 261 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 tgctgctgctgcagctgGGGA 0.308 MYH7B 57644 broad.mit.edu 37 20 33584501 33584501 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:33584501C>T uc002xbi.1 + 28 3424 c.3332C>T c.(3331-3333)ACG>ATG p.T1111M NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1069 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) CTGAAGCTGACGCAGGAGTCG 0.622 RBL1 5933 broad.mit.edu 37 20 35689589 35689589 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:35689589T>C uc002xgi.2 - 9 1246 c.1167A>G c.(1165-1167)TCA>TCG p.S389S RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.S389S|RBL1_uc010gfv.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 389 Domain A.|Pocket; binds T and E1A. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) TTTGGGTGGCTGATGCAACAG 0.408 FAM83D 81610 broad.mit.edu 37 20 37580194 37580194 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:37580194G>A uc002xjg.2 + 4 920 c.879G>A c.(877-879)ACG>ACA p.T293T NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 263 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) TTACATGGACGGATGGCAAAT 0.398 DHX35 60625 broad.mit.edu 37 20 37639048 37639048 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:37639048G>A uc002xjh.2 + 13 1358 c.1347_splice c.e13+1 p.S449_splice DHX35_uc010zwa.1_Splice_Site_p.S294_splice|DHX35_uc010zwb.1_Splice_Site_p.S294_splice|DHX35_uc010zwc.1_Splice_Site_p.S418_splice NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CTTCATGTCGGTAAGTCCTGC 0.522 DHX35 60625 broad.mit.edu 37 20 37650575 37650575 + Silent SNP C C T rs141540547 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:37650575C>T uc002xjh.2 + 16 1601 c.1590C>T c.(1588-1590)CAC>CAT p.H530H DHX35_uc010zwa.1_Silent_p.H375H|DHX35_uc010zwb.1_Silent_p.H375H|DHX35_uc010zwc.1_Silent_p.H499H NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 530 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) AGAAGTCTCACGCAGTAAGTC 0.478 PTPRT 11122 broad.mit.edu 37 20 40944615 40944615 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:40944615C>A uc002xkg.2 - 12 2071 c.1887G>T c.(1885-1887)AAG>AAT p.K629N PTPRT_uc010ggj.2_Missense_Mutation_p.K629N NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 629 Extracellular (Potential).|Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTCGCTCCTCCTTGACAACCA 0.498 PIGT 51604 broad.mit.edu 37 20 44052984 44052984 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:44052984G>A uc002xoh.1 + 10 1436 c.1363G>A c.(1363-1365)GAG>AAG p.E455K PIGT_uc010ghf.1_Missense_Mutation_p.E408K|PIGT_uc002xoj.1_Missense_Mutation_p.E388K|PIGT_uc002xok.1_Missense_Mutation_p.E420K|PIGT_uc010zwu.1_Missense_Mutation_p.E193K|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Missense_Mutation_p.E193K|PIGT_uc010zww.1_Missense_Mutation_p.E399K|PIGT_uc010zwx.1_Missense_Mutation_p.E290K|PIGT_uc010zwy.1_Missense_Mutation_p.E353K|PIGT_uc010zwz.1_Missense_Mutation_p.E193K|PIGT_uc010zxa.1_Missense_Mutation_p.E293K|PIGT_uc002xol.1_Missense_Mutation_p.E244K|PIGT_uc010zxb.1_Missense_Mutation_p.E131K|PIGT_uc002xom.1_Missense_Mutation_p.E47K NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 455 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) GAAGTGGACCGAGTACACGCC 0.602 ZSWIM3 140831 broad.mit.edu 37 20 44506069 44506069 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:44506069G>A uc002xqd.2 + 2 1075 c.872G>A c.(871-873)CGG>CAG p.R291Q ZSWIM3_uc010zxg.1_Missense_Mutation_p.R285Q NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 291 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) TTCCATTACCGGGCTATCCTG 0.512 MMP9 4318 broad.mit.edu 37 20 44640898 44640898 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:44640898G>A uc002xqz.2 + 7 1139 c.1120G>A c.(1120-1122)GCT>ACT p.A374T NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 374 Fibronectin type-II 3. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) CCTCTGGTGCGCTACCACCTC 0.657 EYA2 2139 broad.mit.edu 37 20 45811964 45811964 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:45811964A>G uc002xsm.2 + 15 1835 c.1461A>G c.(1459-1461)ATA>ATG p.I487M EYA2_uc010ghp.2_Missense_Mutation_p.I408M|EYA2_uc002xsn.2_Missense_Mutation_p.I492M|EYA2_uc002xso.2_Missense_Mutation_p.I487M|EYA2_uc002xsp.2_Missense_Mutation_p.I487M|EYA2_uc002xsq.2_Missense_Mutation_p.I457M NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 487 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) TCGAGAGGATAATGCAGAGAT 0.353 ZMYND8 23613 broad.mit.edu 37 20 45891150 45891150 + Silent SNP C C T rs145166978 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:45891150C>T uc002xta.1 - 12 1697 c.1443G>A c.(1441-1443)ACG>ACA p.T481T ZMYND8_uc010ghq.1_Silent_p.T158T|ZMYND8_uc010ghr.1_Silent_p.T456T|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Silent_p.T481T|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Silent_p.T233T|ZMYND8_uc002xsx.1_Silent_p.T233T|ZMYND8_uc002xsy.1_Silent_p.T456T|ZMYND8_uc002xsz.1_Silent_p.T418T|ZMYND8_uc010zxy.1_Silent_p.T508T|ZMYND8_uc002xtb.1_Silent_p.T501T|ZMYND8_uc002xss.2_Silent_p.T481T|ZMYND8_uc010zxz.1_Silent_p.T476T|ZMYND8_uc002xtc.1_Silent_p.T501T|ZMYND8_uc002xtd.1_Silent_p.T476T|ZMYND8_uc002xte.1_Silent_p.T481T|ZMYND8_uc010zya.1_Silent_p.T481T|ZMYND8_uc002xtf.1_Silent_p.T501T|ZMYND8_uc002xtg.2_Silent_p.T475T|ZMYND8_uc010ghs.1_Silent_p.T475T NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 481 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CTGCTTGTCCCGTCTTGGTGG 0.493 ZFP64 55734 broad.mit.edu 37 20 50701307 50701307 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:50701307G>A uc002xwk.2 - 9 2076 c.1727C>T c.(1726-1728)ACG>ATG p.T576M ZFP64_uc002xwj.2_Missense_Mutation_p.T357M NM_199427 NP_955459 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform d Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GGCCCTCTGCGTCACGATCTT 0.617 ZFP64 55734 broad.mit.edu 37 20 50768705 50768705 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:50768705C>T uc002xwl.2 - 6 2375 c.2026G>A c.(2026-2028)GCC>ACC p.A676T ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.A674T|ZFP64_uc002xwn.2_Missense_Mutation_p.A622T NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 676 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 ATGGAGTCGGCGGGACAGAGC 0.473 GNAS 2778 broad.mit.edu 37 20 57415346 57415346 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:57415346G>A uc002xzt.2 + 1 552 c.185G>A c.(184-186)CGG>CAG p.R62Q GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 62 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CAACAGCGCCGGAGCTTCCTT 0.692 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) TAF4 6874 broad.mit.edu 37 20 60589624 60589624 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:60589624G>A uc002ybs.2 - 2 1500 c.1500C>T c.(1498-1500)CCC>CCT p.P500P NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 500 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) AGATCTGGACGGGAGGGGCAC 0.667 LAMA5 3911 broad.mit.edu 37 20 60921226 60921226 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:60921226A>G uc002ycq.2 - 10 1395 c.1328T>C c.(1327-1329)CTG>CCG p.L443P NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 443 Laminin EGF-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGACCCGTCAGGTCCTCGCA 0.657 COL9A3 1299 broad.mit.edu 37 20 61472005 61472005 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:61472005C>T uc002ydm.2 + 32 1979 c.1976C>T c.(1975-1977)CCG>CTG p.P659L COL9A3_uc002ydn.2_Missense_Mutation_p.P153L NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 659 Triple-helical region 1 (COL1). axon guidance collagen type IX 0 Breast(26;5.68e-08) CAGGGGACACCGGGGATCTGC 0.647 BHLHE23 128408 broad.mit.edu 37 20 61637673 61637673 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:61637673G>A uc002yeb.2 - 1 715 c.406C>T c.(406-408)CGC>TGC p.R136C NM_080606 NP_542173 Q8NDY6 BHE23_HUMAN basic helix-loop-helix domain containing, class 136 Helix-loop-helix motif. transcription, DNA-dependent nucleus DNA binding 0 GAGAGCTTGCGCACCGACGGG 0.552 CHRNA4 1137 broad.mit.edu 37 20 61981656 61981656 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:61981656C>T uc002yes.2 - 5 1285 c.1107G>A c.(1105-1107)CGG>CGA p.R369R CHRNA4_uc002yet.1_Silent_p.R193R|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.R298R|CHRNA4_uc002yev.1_Silent_p.R193R|CHRNA4_uc010gkf.1_Silent_p.R193R NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 369 Cytoplasmic (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGATGAGCCGCCGGCAATTGT 0.667 PRPF6 24148 broad.mit.edu 37 20 62663288 62663288 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:62663288G>A uc002yho.2 + 20 2732 c.2564G>A c.(2563-2565)CGG>CAG p.R855Q PRPF6_uc002yhp.2_Missense_Mutation_p.R815Q|NCRNA00176_uc002yhq.2_5'Flank|NCRNA00176_uc011abq.1_5'Flank NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 855 HAT 9. 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) TGGAGTCAGCGGAAGATCACC 0.577 MYT1 4661 broad.mit.edu 37 20 62871235 62871235 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:62871235C>T uc002yii.2 + 22 3580 c.3216C>T c.(3214-3216)GCC>GCT p.A1072A MYT1_uc002yij.2_Silent_p.A731A|MYT1_uc002yik.2_Silent_p.A38A NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 1072 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AAAGTCTCGCCAATATCCGCC 0.607 TPTE 7179 broad.mit.edu 37 21 10969092 10969092 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:10969092C>T uc002yip.1 - 7 524 c.156G>A c.(154-156)GTG>GTA p.V52V TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 52 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGATAGGTGACACCCGGGCTG 0.333 NRIP1 8204 broad.mit.edu 37 21 16337566 16337566 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:16337566C>T uc002yjx.2 - 4 3546 c.2948G>A c.(2947-2949)GGA>GAA p.G983E NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 983 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GTACATCAGTCCATTTAAAGA 0.423 NCAM2 4685 broad.mit.edu 37 21 22658687 22658687 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:22658687G>A uc002yld.1 + 4 685 c.436G>A c.(436-438)GTC>ATC p.V146I NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.V171I NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 146 Ig-like C2-type 2.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TGCACCTGCTGTCAGCTGGTT 0.393 ADAMTS5 11096 broad.mit.edu 37 21 28337870 28337870 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:28337870G>A uc002ymg.2 - 1 1570 c.841C>T c.(841-843)CGG>TGG p.R281W NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 281 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CCATACAACCGCGCCATGGAC 0.682 USP16 10600 broad.mit.edu 37 21 30407165 30407165 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:30407165G>A uc002ymy.2 + 4 450 c.248G>A c.(247-249)GGC>GAC p.G83D USP16_uc002ymx.2_Missense_Mutation_p.G83D|USP16_uc002ymw.2_Missense_Mutation_p.G83D|USP16_uc011acm.1_Missense_Mutation_p.G69D|USP16_uc011acn.1_Intron NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN ubiquitin specific protease 16 isoform a 83 UBP-type. cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(2)|breast(1)|pancreas(1) 4 TAGGGCTGTGGCAGAAATTCT 0.423 C21orf63 59271 broad.mit.edu 37 21 33840140 33840140 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:33840140G>A uc002ypr.1 + 4 1028 c.618G>A c.(616-618)GAG>GAA p.E206E C21orf63_uc002ypq.1_Silent_p.E206E|C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Silent_p.E206E|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Silent_p.E111E NM_058187 NP_478067 P58658 CU063_HUMAN hypothetical protein LOC59271 precursor 206 SUEL-type lectin 2.|Extracellular (Potential). integral to membrane sugar binding ovary(2)|pancreas(1) 3 CCAAGGCAGAGCGGCTCCCCC 0.368 KCNJ6 3763 broad.mit.edu 37 21 38997732 38997732 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:38997732T>C uc011aej.1 - 4 1054 c.1001A>G c.(1000-1002)TAC>TGC p.Y334C KCNJ6_uc002ywo.2_Missense_Mutation_p.Y334C NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 334 Cytoplasmic (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) TGTGAACCGGTAACCCCACAG 0.527 HSF2BP 11077 broad.mit.edu 37 21 45076572 45076572 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:45076572A>G uc002zdi.2 - 3 415 c.83T>C c.(82-84)CTG>CCG p.L28P RRP1B_uc002zdk.2_5'Flank|HSF2BP_uc011aey.1_Intron NM_007031 NP_008962 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding 28 spermatogenesis|transcription from RNA polymerase II promoter cytosol binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.18) CAGCCGTTCCAGATCCTTCTT 0.373 C21orf29 54084 broad.mit.edu 37 21 45947252 45947252 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:45947252C>T uc002zfe.1 - 7 1138 c.1072G>A c.(1072-1074)GAA>AAA p.E358K C21orf29_uc010gpv.1_Missense_Mutation_p.E290K NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 358 EAR 1. cell adhesion extracellular region structural molecule activity 0 AACTTCTCTTCGGTCCACTTG 0.552 GAB4 128954 broad.mit.edu 37 22 17473042 17473042 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:17473042G>T uc002zlw.2 - 2 307 c.199C>A c.(199-201)CTG>ATG p.L67M GAB4_uc010gqs.1_Missense_Mutation_p.L67M NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 67 PH. large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) CCCCTCCGCAGGATAAACCAG 0.488 DGCR14 8220 broad.mit.edu 37 22 19124850 19124850 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:19124850C>T uc002zou.2 - 8 1058 c.1021G>A c.(1021-1023)GGC>AGC p.G341S DGCR14_uc002zot.2_Missense_Mutation_p.G262S|DGCR14_uc002zov.2_RNA NM_022719 NP_073210 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region protein 14 341 nervous system development catalytic step 2 spliceosome ovary(1) 1 Colorectal(54;0.0993) AAAGCTGGGCCGGGTGTCCTG 0.607 CLTCL1 8218 broad.mit.edu 37 22 19207438 19207438 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:19207438C>T uc002zpb.2 - 18 2950 c.2875G>A c.(2875-2877)GTC>ATC p.V959I CLTCL1_uc011agv.1_Missense_Mutation_p.V959I|CLTCL1_uc011agw.1_Missense_Mutation_p.V959I NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 959 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TCCTCAAGGACGTGAGCCCAG 0.522 T ? ALCL HIRA 7290 broad.mit.edu 37 22 19381879 19381879 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:19381879C>T uc002zpf.1 - 8 1028 c.808G>A c.(808-810)GCT>ACT p.A270T HIRA_uc011agx.1_Missense_Mutation_p.A136T|HIRA_uc010grn.1_Missense_Mutation_p.A270T|HIRA_uc010gro.1_Missense_Mutation_p.A226T|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 270 WD 6. 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) ACAGTCACAGCTTTCCGGTGC 0.483 GNB1L 54584 broad.mit.edu 37 22 19808148 19808148 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:19808148G>A uc002zqe.1 - 3 621 c.227C>T c.(226-228)ACG>ATG p.T76M GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Missense_Mutation_p.T76M NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 76 WD 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) CTGGGGCAGCGTCTGCAGCCA 0.652 ARVCF 421 broad.mit.edu 37 22 19960457 19960457 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:19960457C>T uc002zqz.2 - 15 2812 c.2541G>A c.(2539-2541)GCG>GCA p.A847A ARVCF_uc002zqy.2_Silent_p.A363A NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 847 cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) CCTGGAAGCGCGCCTTGGTCC 0.567 MED15 51586 broad.mit.edu 37 22 20920907 20920907 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:20920907C>T uc002zsp.2 + 7 924 c.844C>T c.(844-846)CCC>TCC p.P282S MED15_uc002zso.2_Missense_Mutation_p.P211S|MED15_uc002zsq.2_Missense_Mutation_p.P282S|MED15_uc010gso.2_Missense_Mutation_p.P282S|MED15_uc002zsr.2_Missense_Mutation_p.P256S|MED15_uc011ahs.1_Missense_Mutation_p.P256S|MED15_uc002zss.2_Missense_Mutation_p.P201S|MED15_uc011ahu.1_Missense_Mutation_p.P8S NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 282 Pro-rich. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ACAGCCTCCGCCCTCCCAGGC 0.512 HIC2 23119 broad.mit.edu 37 22 21800421 21800421 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:21800421G>A uc002zur.3 + 3 1467 c.1237G>A c.(1237-1239)GGG>AGG p.G413R HIC2_uc002zus.3_Missense_Mutation_p.G413R NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 413 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) TGCGCAGAGCGGGAGCGAGGG 0.647 CCDC116 164592 broad.mit.edu 37 22 21988657 21988657 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:21988657C>T uc002zve.2 + 3 512 c.419C>T c.(418-420)CCG>CTG p.P140L CCDC116_uc011aih.1_Missense_Mutation_p.P140L NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 140 ovary(1)|skin(1) 2 Colorectal(54;0.105) CGTGTACGGCCGACCCTCTGC 0.662 ZNF280A 129025 broad.mit.edu 37 22 22868374 22868374 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:22868374A>G uc002zwe.2 - 2 1834 c.1581T>C c.(1579-1581)GCT>GCC p.A527A LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) tagtgttcatagccgtcttct 0.154 BCR 613 broad.mit.edu 37 22 23603147 23603147 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:23603147A>G uc002zww.2 + 3 2068 c.1472A>G c.(1471-1473)GAC>GGC p.D491G BCR_uc002zwx.2_Missense_Mutation_p.D491G|BCR_uc011aiy.1_Missense_Mutation_p.D80G|BCR_uc010gtx.1_5'UTR|uc010gty.2_5'Flank NM_004327 NP_004318 P11274 BCR_HUMAN breakpoint cluster region isoform 1 491 regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1) 12 AGTGAGCTGGACTTGGAAAAG 0.567 T ABL1| FGFR1|JAK2 CML|ALL|AML SEZ6L 23544 broad.mit.edu 37 22 26688613 26688613 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:26688613C>T uc003acb.2 + 2 492 c.336C>T c.(334-336)GCC>GCT p.A112A SEZ6L_uc003acc.2_Silent_p.A112A|SEZ6L_uc011akc.1_Silent_p.A112A|SEZ6L_uc003acd.2_Silent_p.A112A|SEZ6L_uc011akd.1_Silent_p.A112A|SEZ6L_uc003ace.2_Silent_p.A112A|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 112 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CCAAGCACGCCTTGCCCCCCA 0.647 C1QTNF6 114904 broad.mit.edu 37 22 37578651 37578651 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:37578651C>T uc003aqw.1 - 2 862 c.357G>A c.(355-357)CCG>CCA p.P119P C1QTNF6_uc003aqx.1_Silent_p.P138P|C1QTNF6_uc003aqy.1_Silent_p.P138P|C1QTNF6_uc003aqz.1_Intron NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 119 Collagen-like. collagen 0 GCTTCTGGCACGGGGCGCCGG 0.672 PDGFB 5155 broad.mit.edu 37 22 39626130 39626130 + Missense_Mutation SNP C C T rs146204796 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:39626130C>T uc003axf.2 - 5 1549 c.560G>A c.(559-561)CGG>CAG p.R187Q PDGFB_uc003axe.2_Missense_Mutation_p.R172Q NM_002608 NP_002599 P01127 PDGFB_HUMAN platelet-derived growth factor beta isoform 1 187 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(1) 373 Melanoma(58;0.04) Becaplermin(DB00102) GGTCACAGGCCGTGCAGCTGC 0.617 T COL1A1 DFSP MGAT3 4248 broad.mit.edu 37 22 39884756 39884756 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:39884756G>A uc003axv.3 + 2 1643 c.1404G>A c.(1402-1404)ACG>ACA p.T468T MGAT3_uc010gxy.2_Silent_p.T468T NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 468 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) TCGACGGCACGCAGCAGGAGT 0.632 MKL1 57591 broad.mit.edu 37 22 40814610 40814610 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:40814610G>T uc003ayv.1 - 9 2039 c.1832C>A c.(1831-1833)CCT>CAT p.P611H MKL1_uc003ayw.1_Missense_Mutation_p.P611H|MKL1_uc010gye.1_Missense_Mutation_p.P611H|MKL1_uc010gyf.1_Missense_Mutation_p.P561H NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 611 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CACAGCACAAGGGTCTATGTG 0.697 T RBM15 acute megakaryocytic leukemia TOB2 10766 broad.mit.edu 37 22 41832815 41832815 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:41832815C>T uc003azz.1 - 2 1242 c.535G>A c.(535-537)GCC>ACC p.A179T NM_016272 NP_057356 Q14106 TOB2_HUMAN transducer of ERBB2, 2 179 female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus ovary(1) 1 GCGAAGGAGGCGGTGGTGAAG 0.637 TTLL1 25809 broad.mit.edu 37 22 43435868 43435868 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:43435868G>T uc003bdi.2 - 11 1427 c.1186C>A c.(1186-1188)CTG>ATG p.L396M TTLL1_uc010gzh.2_Missense_Mutation_p.L367M|TTLL1_uc003bdj.2_Missense_Mutation_p.L282M|TTLL1_uc003bdh.2_Missense_Mutation_p.L358M NM_012263 NP_036395 O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 396 protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity skin(1) 1 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) CGGCTTCTCAGCTCCCGGTCA 0.617 EFCAB6 64800 broad.mit.edu 37 22 44011785 44011785 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:44011785G>A uc003bdy.1 - 21 2698 c.2483C>T c.(2482-2484)GCG>GTG p.A828V EFCAB6_uc003bdz.1_Missense_Mutation_p.A676V|EFCAB6_uc010gzi.1_Missense_Mutation_p.A676V|EFCAB6_uc010gzj.1_Intron NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 828 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) TTCTGAATCCGCAACCTTCTG 0.368 PNPLA5 150379 broad.mit.edu 37 22 44287040 44287040 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:44287040C>T uc003beg.2 - 2 425 c.328G>A c.(328-330)GTC>ATC p.V110I PNPLA5_uc011aqc.1_5'UTR|PNPLA5_uc003beh.2_Intron NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 110 Patatin. lipid catabolic process hydrolase activity 0 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GAGGCCAGGACGTGGGCGTCG 0.657 FBLN1 2192 broad.mit.edu 37 22 45970515 45970515 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:45970515G>A uc003bgj.1 + 15 1969 c.1822G>A c.(1822-1824)GAG>AAG p.E608K NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 608 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TACCTTCCGCGAGTTCACCCG 0.647 PPARA 5465 broad.mit.edu 37 22 46631044 46631044 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:46631044C>A uc003bgw.1 + 9 1440 c.1174C>A c.(1174-1176)CTA>ATA p.L392I PPARA_uc003bgx.1_Missense_Mutation_p.L392I|PPARA_uc010hab.1_Missense_Mutation_p.L392I|PPARA_uc003bhb.1_Missense_Mutation_p.L392I|PPARA_uc010hac.1_Missense_Mutation_p.L189I NM_005036 NP_005027 Q07869 PPARA_HUMAN peroxisome proliferative activated receptor, 392 Ligand-binding.|Required for heterodimerization with RXRA. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) TCCTGGCCTTCTAAACGTAGG 0.448 CELSR1 9620 broad.mit.edu 37 22 46794456 46794456 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:46794456C>G uc003bhw.1 - 11 5491 c.5491G>C c.(5491-5493)GTC>CTC p.V1831L CELSR1_uc011arc.1_Missense_Mutation_p.V152L NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1831 Extracellular (Potential).|Laminin G-like 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) CGCACGGAGACCTTGTCTTCA 0.692 ALG12 79087 broad.mit.edu 37 22 50301584 50301584 + Silent SNP C C T rs138060012 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:50301584C>T uc003biy.2 - 7 1051 c.777G>A c.(775-777)CCG>CCA p.P259P NM_024105 NP_077010 Q9BV10 ALG12_HUMAN alpha-1,6-mannosyltransferase ALG12 259 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane 0 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) ACCACAGCAGCGGGGAGGTCT 0.657 HDAC10 83933 broad.mit.edu 37 22 50686680 50686680 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:50686680G>T uc003bkg.2 - 12 1428 c.1055C>A c.(1054-1056)CCG>CAG p.P352Q HDAC10_uc003bke.2_Missense_Mutation_p.P78Q|HDAC10_uc003bkf.2_Missense_Mutation_p.P78Q|HDAC10_uc010hav.2_Missense_Mutation_p.P332Q|HDAC10_uc003bkh.2_Missense_Mutation_p.P145Q|HDAC10_uc003bki.2_Missense_Mutation_p.P302Q|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_5'UTR NM_032019 NP_114408 Q969S8 HDA10_HUMAN histone deacetylase 10 isoform 1 352 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase 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) 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTTCCAGTGCGGGGCCTGGGC 0.652 PLXNB2 23654 broad.mit.edu 37 22 50714329 50714329 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:50714329A>G uc003bkv.3 - 36 5507 c.5401T>C c.(5401-5403)TAC>CAC p.Y1801H PLXNB2_uc003bkt.1_Missense_Mutation_p.Y593H|PLXNB2_uc003bku.1_Missense_Mutation_p.Y786H NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1801 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCGTCATAGTACTTCTGCGTG 0.647 OREG0026679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CHL1 10752 broad.mit.edu 37 3 439979 439979 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:439979C>T uc003bou.2 + 24 3387 c.3116C>T c.(3115-3117)CCG>CTG p.P1039L CHL1_uc003bot.2_Missense_Mutation_p.P1055L|CHL1_uc003bow.1_Missense_Mutation_p.P1039L|CHL1_uc011asi.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 1039 Extracellular (Potential). Cleavage; by ADAM8 (By similarity). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GTATTTGAGCCGGGAGCTGAA 0.383 ARPC4 10093 broad.mit.edu 37 3 9839372 9839372 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:9839372C>T uc003bsz.1 + 2 612 c.33C>T c.(31-33)GCC>GCT p.A11A ARPC4_uc003bta.1_5'UTR|ARPC4_uc003btb.1_5'UTR|ARPC4_uc003btc.1_5'UTR|TTLL3_uc003btd.3_5'UTR NM_005718 NP_005709 P59998 ARPC4_HUMAN actin related protein 2/3 complex subunit 4 11 actin filament polymerization|actin nucleation Arp2/3 protein complex|cell projection|cytoplasm actin binding 0 Medulloblastoma(99;0.227) ACCTGAGTGCCGTGCGGGCCA 0.552 PPARG 5468 broad.mit.edu 37 3 12421297 12421297 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:12421297C>A uc003bwx.2 + 2 268 c.177C>A c.(175-177)TCC>TCA p.S59S PPARG_uc003bwr.2_Silent_p.S31S|PPARG_uc003bws.2_Silent_p.S31S|PPARG_uc003bwu.2_Silent_p.S31S|PPARG_uc003bwv.2_Silent_p.S31S|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Silent_p.S31S|PPARG_uc010hdz.1_RNA|PPARG_uc003bwt.1_Silent_p.S31S|PPARG_uc003bww.1_Silent_p.S59S NM_015869 NP_056953 P37231 PPARG_HUMAN peroxisome proliferative activated receptor 59 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|kidney(1) 2 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) ACTCCCACTCCTTTGATATCA 0.463 T PAX8 follicular thyroid Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension CAND2 23066 broad.mit.edu 37 3 12856772 12856772 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:12856772T>C uc003bxk.2 + 8 1188 c.1139T>C c.(1138-1140)GTG>GCG p.V380A CAND2_uc003bxj.2_Missense_Mutation_p.V287A NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 380 HEAT 9. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 CTGGCACCTGTGCTCATCCGC 0.617 KCNH8 131096 broad.mit.edu 37 3 19575324 19575324 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:19575324G>A uc003cbk.1 + 16 3252 c.3057G>A c.(3055-3057)ACG>ACA p.T1019T KCNH8_uc010hex.1_Silent_p.T480T NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 1019 Ser-rich.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CAGATTCTACGTTGACGCCTC 0.458 TOP2B 7155 broad.mit.edu 37 3 25650830 25650830 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:25650830T>C uc003cdj.2 - 30 3922 c.3922A>G c.(3922-3924)AGA>GGA p.R1308G TOP2B_uc011awm.1_Missense_Mutation_p.R165G|TOP2B_uc010hff.1_Missense_Mutation_p.R174G NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 1313 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 TTTCTCACTCTGGTACCTAAA 0.308 TOP2B 7155 broad.mit.edu 37 3 25668765 25668765 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:25668765T>A uc011awn.1 - 16 1972 c.1929A>T c.(1927-1929)AAA>AAT p.K643N TOP2B_uc003cdj.2_Missense_Mutation_p.K638N NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 643 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 CCTTTGCTTCTTTAGCTGTAC 0.338 RBMS3 27303 broad.mit.edu 37 3 29938929 29938929 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:29938929C>T uc003cel.2 + 9 1081 c.851C>T c.(850-852)ACG>ATG p.T284M RBMS3_uc003cek.2_Missense_Mutation_p.T284M|RBMS3_uc010hfq.2_Missense_Mutation_p.T297M|RBMS3_uc003cem.2_Missense_Mutation_p.T283M|RBMS3_uc010hfr.2_Missense_Mutation_p.T284M NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting 284 cytoplasm nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(412;0.0956) ACATCTATCACGCCATTCATT 0.418 TRIM71 131405 broad.mit.edu 37 3 32932817 32932817 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:32932817G>A uc003cff.2 + 4 2184 c.2121G>A c.(2119-2121)GCG>GCA p.A707A NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 707 NHL 3. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 GGGATGTGGCGGTGAATTCTG 0.522 CLASP2 23122 broad.mit.edu 37 3 33543196 33543196 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:33543196G>A uc003cfu.2 - 37 4736 c.4382C>T c.(4381-4383)GCG>GTG p.A1461V CLASP2_uc003cfs.2_Missense_Mutation_p.A668V|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 1470 ovary(3)|central_nervous_system(1) 4 ACCAATTACCGCATGAACAGC 0.438 CLASP2 23122 broad.mit.edu 37 3 33729800 33729800 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:33729800C>T uc003cfu.2 - 4 793 c.439G>A c.(439-441)GTG>ATG p.V147M CLASP2_uc010hgb.2_RNA NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 147 ovary(3)|central_nervous_system(1) 4 CACAGACACACGCCTTCTCGA 0.303 TRANK1 9881 broad.mit.edu 37 3 36874710 36874710 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:36874710C>T uc003cgj.2 - 12 4884 c.4582G>A c.(4582-4584)GTG>ATG p.V1528M NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2078 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TTGGCATCCACCTGGGAAATC 0.418 TRANK1 9881 broad.mit.edu 37 3 36897192 36897192 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:36897192A>G uc003cgj.2 - 3 2541 c.2239T>C c.(2239-2241)TAC>CAC p.Y747H NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1297 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GCAGGGTTGTAGGCAGTCCTC 0.453 LRRFIP2 9209 broad.mit.edu 37 3 37162993 37162993 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:37162993C>T uc003cgp.2 - 7 743 c.320G>A c.(319-321)GGC>GAC p.G107D LRRFIP2_uc011ayf.1_Missense_Mutation_p.G90D|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting 107 DVL3-binding. Wnt receptor signaling pathway LRR domain binding ovary(1) 1 CCTGTGACTGCCAACACTTCG 0.358 GOLGA4 2803 broad.mit.edu 37 3 37292888 37292888 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:37292888G>A uc003cgv.2 + 2 379 c.75G>A c.(73-75)GCG>GCA p.A25A GOLGA4_uc010hgr.1_Silent_p.A25A|GOLGA4_uc003cgw.2_Silent_p.A25A|GOLGA4_uc010hgs.2_Silent_p.A25A|GOLGA4_uc003cgu.1_Silent_p.A25A NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 25 Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 AAATCTAGGCGTCCTCCAATT 0.388 VILL 50853 broad.mit.edu 37 3 38037234 38037234 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:38037234A>G uc003chj.2 + 5 632 c.346A>G c.(346-348)AGG>GGG p.R116G VILL_uc003chk.1_Missense_Mutation_p.R116G|VILL_uc003chl.2_Missense_Mutation_p.R116G|VILL_uc010hgu.2_5'UTR NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 116 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CCTCAGCTACAGGAAGGGAGG 0.507 SCN5A 6331 broad.mit.edu 37 3 38601896 38601896 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:38601896G>A uc003cio.2 - 23 4181 c.3987C>T c.(3985-3987)GGC>GGT p.G1329G SCN5A_uc003cin.2_Silent_p.G1328G|SCN5A_uc003cil.3_Silent_p.G1329G|SCN5A_uc010hhi.2_Silent_p.G1329G|SCN5A_uc010hhk.2_Silent_p.G1328G|SCN5A_uc011ayr.1_Silent_p.G1275G|SCN5A_uc010hhj.1_Silent_p.G939G NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1329 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ACGGGATGGCGCCCACCAGGG 0.592 SCN5A 6331 broad.mit.edu 37 3 38608015 38608015 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:38608015G>A uc003cio.2 - 21 3919 c.3725C>T c.(3724-3726)GCC>GTC p.A1242V SCN5A_uc003cin.2_Missense_Mutation_p.A1241V|SCN5A_uc003cil.3_Missense_Mutation_p.A1242V|SCN5A_uc010hhi.2_Missense_Mutation_p.A1242V|SCN5A_uc010hhk.2_Missense_Mutation_p.A1241V|SCN5A_uc011ayr.1_Missense_Mutation_p.A1188V|SCN5A_uc010hhj.1_Missense_Mutation_p.A852V NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1242 Helical; Name=S2 of repeat III; (Potential). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CATCTTGTCGGCATACTCAAG 0.537 SCN5A 6331 broad.mit.edu 37 3 38620974 38620974 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:38620974G>C uc003cio.2 - 18 3435 c.3241C>G c.(3241-3243)CCT>GCT p.P1081A SCN5A_uc003cin.2_Missense_Mutation_p.P1080A|SCN5A_uc003cil.3_Missense_Mutation_p.P1081A|SCN5A_uc010hhi.2_Missense_Mutation_p.P1081A|SCN5A_uc010hhk.2_Missense_Mutation_p.P1080A|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhj.1_Missense_Mutation_p.P691A NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1081 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCGGACACAGGCTGGGATTCC 0.657 SCN5A 6331 broad.mit.edu 37 3 38639229 38639229 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:38639229G>A uc003cio.2 - 14 2447 c.2253C>T c.(2251-2253)GTC>GTT p.V751V SCN5A_uc003cin.2_Silent_p.V751V|SCN5A_uc003cil.3_Silent_p.V751V|SCN5A_uc010hhi.2_Silent_p.V751V|SCN5A_uc010hhk.2_Silent_p.V751V|SCN5A_uc011ayr.1_Silent_p.V751V|SCN5A_uc010hhj.1_Silent_p.V362V NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 751 Helical; Name=S2 of repeat II; (Potential). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCAGGTTTCCGACCTGCAGCA 0.547 SCN10A 6336 broad.mit.edu 37 3 38739639 38739639 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:38739639T>C uc003ciq.2 - 27 5072 c.5072A>G c.(5071-5073)GAC>GGC p.D1691G NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1691 IV. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCTCCCACAGTCCCCTCTGGT 0.572 CX3CR1 1524 broad.mit.edu 37 3 39307753 39307753 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:39307753G>A uc003cjl.2 - 2 340 c.248C>T c.(247-249)ACT>ATT p.T83I NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 83 Helical; Name=2; (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) GAAGGGCAAAGTGGCTACAAA 0.473 MYRIP 25924 broad.mit.edu 37 3 40251387 40251387 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:40251387C>T uc003cka.2 + 11 1843 c.1708C>T c.(1708-1710)CGG>TGG p.R570W MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.R570W|MYRIP_uc010hhw.2_Missense_Mutation_p.R481W|MYRIP_uc011ayz.1_Missense_Mutation_p.R383W|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 570 Actin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CAATGAGGCTCGGGATCCCCA 0.478 HHATL 57467 broad.mit.edu 37 3 42740589 42740589 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:42740589C>T uc003clw.2 - 5 370 c.223G>A c.(223-225)GTC>ATC p.V75I HHATL_uc003clx.2_Missense_Mutation_p.V75I NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 75 Helical; (Potential). negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) AAGATGATGACGTTGCGAAAG 0.612 ZNF167 55888 broad.mit.edu 37 3 44612251 44612251 + Missense_Mutation SNP C C A rs145479931 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:44612251C>A uc010hin.2 + 6 2037 c.1649C>A c.(1648-1650)CCT>CAT p.P550H ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.P550H|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 550 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) GGGGAGAAGCCTTATGAGTGT 0.433 FYCO1 79443 broad.mit.edu 37 3 46008705 46008705 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:46008705G>A uc003cpb.3 - 8 2327 c.2121C>T c.(2119-2121)GGC>GGT p.G707G FYCO1_uc011bal.1_Silent_p.G707G NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 707 Potential. transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) GCTGACACTCGCCCTCCTTGC 0.612 LTF 4057 broad.mit.edu 37 3 46482949 46482949 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:46482949C>T uc003cpq.2 - 14 1719 c.1681G>A c.(1681-1683)GTT>ATT p.V561I LTF_uc003fzr.2_Missense_Mutation_p.V517I|LTF_uc010hjh.2_Missense_Mutation_p.V559I|LTF_uc003cpr.2_Missense_Mutation_p.V548I NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 561 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) ACAAATGCAACGTCTCCAGCA 0.393 SCAP 22937 broad.mit.edu 37 3 47462130 47462130 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:47462130A>T uc003crh.1 - 12 1732 c.1477T>A c.(1477-1479)TCT>ACT p.S493T SCAP_uc011baz.1_Missense_Mutation_p.S238T|SCAP_uc003crg.2_Missense_Mutation_p.S101T NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 493 Cytoplasmic (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CGGAAGGAAGACGGCTGCAAC 0.667 OREG0015548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SCAP 22937 broad.mit.edu 37 3 47467488 47467488 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:47467488C>T uc003crh.1 - 7 1164 c.909G>A c.(907-909)ACG>ACA p.T303T SCAP_uc011baz.1_Silent_p.T48T|SCAP_uc003crg.2_Intron NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 303 Cytoplasmic (By similarity).|SSD. cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) TGAACCTACGCGTGGAGAAGT 0.557 CSPG5 10675 broad.mit.edu 37 3 47619165 47619165 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:47619165G>A uc003crp.3 - 2 527 c.351C>T c.(349-351)AGC>AGT p.S117S CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Silent_p.S117S|CSPG5_uc011bbb.1_5'UTR NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 117 Extracellular (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGGCATCGCCGCTGCCCGCCT 0.692 CELSR3 1951 broad.mit.edu 37 3 48698284 48698284 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:48698284A>G uc003cul.2 - 1 2065 c.1784T>C c.(1783-1785)ATC>ACC p.I595T CELSR3_uc003cuf.1_Missense_Mutation_p.I665T NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 595 Extracellular (Potential).|Cadherin 3. 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) GAGGCTGTCGATGGCAAAGTG 0.607 CCDC71 64925 broad.mit.edu 37 3 49201445 49201445 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:49201445C>T uc003cwg.3 - 2 335 c.197G>A c.(196-198)CGC>CAC p.R66H NM_022903 NP_075054 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 66 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATCACCACTGCGCAGGATGGT 0.557 KLHDC8B 200942 broad.mit.edu 37 3 49212181 49212181 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:49212181G>A uc003cwh.2 + 4 733 c.548G>A c.(547-549)CGC>CAC p.R183H KLHDC8B_uc003cwi.1_Missense_Mutation_p.R56H NM_173546 NP_775817 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 183 Kelch 5. cytoplasm 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACAGGGGGCCGCCAGGGCAAG 0.622 USP4 7375 broad.mit.edu 37 3 49332009 49332009 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:49332009C>T uc003cwq.2 - 14 1793 c.1714G>A c.(1714-1716)GTG>ATG p.V572M USP4_uc003cwo.2_Missense_Mutation_p.V284M|USP4_uc003cwp.2_Missense_Mutation_p.V302M|USP4_uc003cwr.2_Missense_Mutation_p.V525M NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 572 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GAGCCATCCACGGAAGTGCTG 0.532 DAG1 1605 broad.mit.edu 37 3 49548116 49548116 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:49548116T>C uc003cxc.3 + 2 567 c.149T>C c.(148-150)ATG>ACG p.M50T NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 50 Required for laminin recognition.|O-glycosylated at one site. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GAGGCATCCATGCACTCAGTG 0.577 APEH 327 broad.mit.edu 37 3 49713595 49713595 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:49713595C>T uc003cxf.2 + 6 949 c.549C>T c.(547-549)GAC>GAT p.D183D APEH_uc010hkw.1_Silent_p.D183D NM_001640 NP_001631 P13798 ACPH_HUMAN N-acylaminoacyl-peptide hydrolase 183 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGCCTTGGACGTCAGTGCCA 0.587 MST1 4485 broad.mit.edu 37 3 49723549 49723549 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:49723549G>A uc003cxg.2 - 9 1165 c.1093C>T c.(1093-1095)CGC>TGC p.R365C MST1_uc011bcs.1_Silent_p.C403C|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 351 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGGCCGCGCGCATGCCGGGC 0.672 MST1R 4486 broad.mit.edu 37 3 49936356 49936356 + Missense_Mutation SNP C C T rs148258933 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:49936356C>T uc003cxy.3 - 3 1756 c.1492G>A c.(1492-1494)GTG>ATG p.V498M MST1R_uc011bdd.1_Missense_Mutation_p.V498M|MST1R_uc011bde.1_Missense_Mutation_p.V498M|MST1R_uc011bdf.1_Intron|MST1R_uc011bdc.1_5'Flank NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 498 Extracellular (Potential).|Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TCCCGCTGCACGGGCTGCCCA 0.592 RBM5 10181 broad.mit.edu 37 3 50155809 50155809 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:50155809G>A uc003cyg.2 + 25 2516 c.2368G>A c.(2368-2370)GCA>ACA p.A790T RBM5_uc011bdk.1_Missense_Mutation_p.A618T|RBM5_uc003cyh.2_Missense_Mutation_p.A247T|uc003cyi.1_Intron NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 790 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAAAGGCAGCGCATATGGTTT 0.498 VPRBP 9730 broad.mit.edu 37 3 51458110 51458110 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:51458110G>T uc003dbe.1 - 14 2482 c.2314C>A c.(2314-2316)CGG>AGG p.R772R VPRBP_uc003dbf.1_Silent_p.R48R NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 772 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) ATGATCTGCCGGACAGTGCTA 0.557 STAB1 23166 broad.mit.edu 37 3 52551965 52551965 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:52551965C>T uc003dej.2 + 45 4781 c.4707C>T c.(4705-4707)TGC>TGT p.C1569C STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1569 Extracellular (Potential).|EGF-like 13. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CATGTACCTGCGACACAGCCC 0.602 PDHB 5162 broad.mit.edu 37 3 58414314 58414314 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:58414314T>C uc003dkf.3 - 9 849 c.820A>G c.(820-822)ATG>GTG p.M274V PDHB_uc003dke.3_Missense_Mutation_p.M232V|PDHB_uc003dkg.3_Missense_Mutation_p.M256V|PDHB_uc010hnl.2_Missense_Mutation_p.M256V|PDHB_uc011bff.1_Missense_Mutation_p.M256V NM_000925 NP_000916 P11177 ODPB_HUMAN pyruvate dehydrogenase (lipoamide) beta 274 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187) NADH(DB00157)|Pyruvic acid(DB00119) TCCATGTCCATTGGTCTAATG 0.408 CADPS 8618 broad.mit.edu 37 3 62423862 62423862 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:62423862C>T uc003dll.2 - 28 4054 c.3694G>A c.(3694-3696)GCC>ACC p.A1232T CADPS_uc003dlj.1_Missense_Mutation_p.A187T|CADPS_uc003dlk.1_Missense_Mutation_p.A680T|CADPS_uc003dlm.2_Missense_Mutation_p.A1193T|CADPS_uc003dln.2_Missense_Mutation_p.A1153T NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1232 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GTCACGTAGGCGTCGGCCACG 0.443 PRICKLE2 166336 broad.mit.edu 37 3 64133159 64133159 + Missense_Mutation SNP C C T rs147289291 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:64133159C>T uc003dmf.2 - 7 1593 c.1007G>A c.(1006-1008)CGC>CAC p.R336H NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 336 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TTTGGCACTGCGCCGGGACTC 0.587 ADAMTS9 56999 broad.mit.edu 37 3 64592738 64592738 + Silent SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:64592738T>A uc003dmg.2 - 23 3404 c.3372A>T c.(3370-3372)GGA>GGT p.G1124G ADAMTS9_uc011bfo.1_Silent_p.G1096G|ADAMTS9_uc003dmh.1_Silent_p.G953G|ADAMTS9_uc011bfp.1_Silent_p.G35G NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1124 TSP type-1 6. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GGTATCCCTGTCCACAAGTGA 0.428 EPHA3 2042 broad.mit.edu 37 3 89259309 89259309 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:89259309T>C uc003dqy.2 + 3 678 c.453T>C c.(451-453)AGT>AGC p.S151S EPHA3_uc003dqx.1_Silent_p.S151S|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 151 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTGATGAAAGTTTCACTCAAA 0.408 TSP Lung(6;0.00050) GABRR3 200959 broad.mit.edu 37 3 97711889 97711889 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:97711889A>T uc011bgr.1 - 8 911 c.911T>A c.(910-912)ATC>AAC p.I304N NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 304 Helical; (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 CACTGTGGTGATTCCTGCCAT 0.502 IMPG2 50939 broad.mit.edu 37 3 100964765 100964765 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:100964765G>T uc003duq.1 - 12 1627 c.1424C>A c.(1423-1425)TCC>TAC p.S475Y IMPG2_uc011bhe.1_Missense_Mutation_p.S338Y NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 475 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 AACCTCTGGGGAAGAGCTGAG 0.522 FAM55C 91775 broad.mit.edu 37 3 101520160 101520160 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:101520160C>T uc003dvn.2 + 5 812 c.175C>T c.(175-177)CGA>TGA p.R59* FAM55C_uc010hpn.2_Nonsense_Mutation_p.R59* NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 59 extracellular region ovary(1)|pancreas(1)|skin(1) 3 AGGAATTAGCCGAAATCCCTA 0.527 FAM55C 91775 broad.mit.edu 37 3 101540650 101540650 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:101540650G>A uc003dvn.2 + 8 2169 c.1532G>A c.(1531-1533)AGG>AAG p.R511K FAM55C_uc010hpn.2_Missense_Mutation_p.R511K NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 511 extracellular region ovary(1)|pancreas(1)|skin(1) 3 ATCCTTCGGAGGATGTTCTCA 0.542 TMPRSS7 344805 broad.mit.edu 37 3 111766741 111766741 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:111766741G>A uc010hqb.2 + 5 678 c.508G>A c.(508-510)GCC>ACC p.A170T TMPRSS7_uc011bhr.1_Missense_Mutation_p.A25T NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 296 Extracellular (Potential).|CUB 1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 CCAAATCGAAGCCGACAACTG 0.522 KIAA2018 205717 broad.mit.edu 37 3 113375850 113375850 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:113375850T>C uc003eam.2 - 7 5090 c.4679A>G c.(4678-4680)CAG>CGG p.Q1560R KIAA2018_uc003eal.2_Missense_Mutation_p.Q1504R NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1560 Gln-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 CTGCATCTGCTGATGGTGGGG 0.517 KIAA1407 57577 broad.mit.edu 37 3 113753973 113753973 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:113753973C>T uc003eax.2 - 6 764 c.617G>A c.(616-618)CGT>CAT p.R206H KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.R184H|KIAA1407_uc011bip.1_Missense_Mutation_p.R193H NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 206 Potential. ovary(2) 2 TTCTTTCTCACGTCTTAAGCG 0.383 ARHGAP31 57514 broad.mit.edu 37 3 119120974 119120974 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:119120974G>A uc003ecj.3 + 10 1907 c.1375G>A c.(1375-1377)GAC>AAC p.D459N NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 459 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 CACTTCGAACGACAGCCCTAG 0.592 GTF2E1 2960 broad.mit.edu 37 3 120469477 120469477 + Nonsense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:120469477T>G uc003edz.3 + 2 192 c.78T>G c.(76-78)TAT>TAG p.Y26* GTF2E1_uc003edy.2_Nonsense_Mutation_p.Y26* NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 26 HTH TFE/IIEalpha-type. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) GGGGATTTTATGGCATTGAGC 0.483 POLQ 10721 broad.mit.edu 37 3 121179017 121179017 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:121179017A>G uc003eee.3 - 25 7161 c.7032T>C c.(7030-7032)CAT>CAC p.H2344H POLQ_uc003eed.2_Silent_p.H1516H NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2344 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) GACGACGATCATGGGATAAAT 0.443 DNA_polymerases_(catalytic_subunits) POLQ 10721 broad.mit.edu 37 3 121206610 121206610 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:121206610C>T uc003eee.3 - 16 5297 c.5168G>A c.(5167-5169)CGT>CAT p.R1723H POLQ_uc003eed.2_Missense_Mutation_p.R895H NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1723 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) ACTTTCTTTACGAGGTAAGAG 0.373 DNA_polymerases_(catalytic_subunits) GOLGB1 2804 broad.mit.edu 37 3 121411357 121411357 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:121411357T>C uc003eei.3 - 14 6965 c.6839A>G c.(6838-6840)GAT>GGT p.D2280G GOLGB1_uc010hrc.2_Missense_Mutation_p.D2285G|GOLGB1_uc003eej.3_Missense_Mutation_p.D2246G NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2280 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CTGTAGAGTATCACAGACCTT 0.453 HSPBAP1 79663 broad.mit.edu 37 3 122512524 122512524 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:122512524C>T uc003efu.1 - 1 127 c.4G>A c.(4-6)GCA>ACA p.A2T DIRC2_uc003efw.3_5'Flank|DIRC2_uc010hrl.2_5'Flank|DIRC2_uc010hrm.2_5'Flank|HSPBAP1_uc003efv.1_Missense_Mutation_p.A2T NM_024610 NP_078886 Q96EW2 HBAP1_HUMAN Hspb associated protein 1 2 cytoplasm ovary(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.0531) GAGCCTGCTGCCATGGCTACC 0.662 SEMA5B 54437 broad.mit.edu 37 3 122646807 122646807 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:122646807G>A uc003efz.1 - 8 984 c.680C>T c.(679-681)GCC>GTC p.A227V SEMA5B_uc011bju.1_Missense_Mutation_p.A169V|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A227V|SEMA5B_uc010hro.1_Missense_Mutation_p.A169V|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 227 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GGGGCAGCGGGCCACACCATT 0.612 KALRN 8997 broad.mit.edu 37 3 124438126 124438126 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:124438126C>T uc003ehg.2 + 60 8897 c.8770C>T c.(8770-8772)CGG>TGG p.R2924W KALRN_uc003ehk.2_Missense_Mutation_p.R1227W NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2923 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GGAAGATTTTCGGAGGCGGCC 0.532 ITGB5 3693 broad.mit.edu 37 3 124578267 124578267 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:124578267G>T uc003eho.2 - 3 480 c.183C>A c.(181-183)ACC>ACA p.T61T NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 61 Extracellular (Potential).|PSI. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) CACACCGAGAGGTGATGGACC 0.572 ZXDC 79364 broad.mit.edu 37 3 126185161 126185161 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:126185161G>A uc003eiv.2 - 5 1332 c.1278C>T c.(1276-1278)TGC>TGT p.C426C ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.C426C NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 426 C2H2-type 9. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) AGAACCTCGCGCAACATCCTG 0.502 PLXNA1 5361 broad.mit.edu 37 3 126730890 126730890 + Silent SNP G G A rs144586368 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:126730890G>A uc003ejg.2 + 9 2137 c.2133G>A c.(2131-2133)CAG>CAA p.Q711Q NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 734 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) ACCTGCCACAGCCACAGTCAG 0.642 KBTBD12 166348 broad.mit.edu 37 3 127642914 127642914 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:127642914C>T uc010hsr.2 + 1 1013 c.1010C>T c.(1009-1011)GCT>GTT p.A337V KBTBD12_uc003ejy.3_Intron|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.A337V NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN kelch domain containing 6 337 ovary(1) 1 ATAATTGTGGCTGGAGAAGCA 0.358 EEFSEC 60678 broad.mit.edu 37 3 128127069 128127069 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:128127069C>T uc003eki.2 + 7 1796 c.1758C>T c.(1756-1758)TTC>TTT p.F586F EEFSEC_uc003ekj.2_3'UTR NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 586 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 GTTATGTCTTCGACACCCACA 0.647 PLXND1 23129 broad.mit.edu 37 3 129290521 129290521 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:129290521T>C uc003emx.2 - 16 3344 c.3244A>G c.(3244-3246)AGT>GGT p.S1082G NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1082 Extracellular (Potential).|IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CAGTCTCACCTGACAGGGCTG 0.657 ACAD11 84129 broad.mit.edu 37 3 132324009 132324009 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:132324009C>A uc003eov.3 - 12 1835 c.1455G>T c.(1453-1455)GAG>GAT p.E485D ACAD11_uc011blr.1_Missense_Mutation_p.E96D NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 485 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 TCTTCTGTTCCTCACTTCCAT 0.403 CLSTN2 64084 broad.mit.edu 37 3 140251228 140251228 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:140251228C>T uc003etn.2 + 9 1597 c.1407C>T c.(1405-1407)TAC>TAT p.Y469Y CLSTN2_uc003etm.2_Silent_p.Y469Y NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 469 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TAACCTTATACATGGATGGAG 0.428 HNSCC(16;0.037) CHST2 9435 broad.mit.edu 37 3 142840665 142840665 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:142840665C>T uc003evm.2 + 2 1896 c.1007C>T c.(1006-1008)GCG>GTG p.A336V NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 336 Lumenal (Potential).|PAPS (Probable). 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 GATCCCCGCGCGGTGGCGAGT 0.667 GYG1 2992 broad.mit.edu 37 3 148714687 148714687 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:148714687T>C uc003ewn.2 + 4 530 c.477T>C c.(475-477)TTT>TTC p.F159F GYG1_uc011bnp.1_Intron|GYG1_uc003ewo.2_Silent_p.F159F|GYG1_uc003ewp.2_Silent_p.F159F NM_004130 NP_004121 P46976 GLYG_HUMAN glycogenin 1 159 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AAGGTAGTTTTGATGGTATGT 0.413 FAM194A 131831 broad.mit.edu 37 3 150387141 150387141 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:150387141G>T uc003eyg.2 - 12 1498 c.1441C>A c.(1441-1443)CTA>ATA p.L481I FAM194A_uc003eyh.2_Missense_Mutation_p.L335I NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 481 skin(2)|ovary(1) 3 AGCACTGCTAGGATAGCAGGG 0.463 SGEF 26084 broad.mit.edu 37 3 153839836 153839836 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:153839836C>T uc011bog.1 + 2 266 c.55C>T c.(55-57)CGG>TGG p.R19W uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.R19W NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 19 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CCCTTTGTGGCGGAGGCGGTC 0.607 PLCH1 23007 broad.mit.edu 37 3 155282736 155282736 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:155282736C>T uc011bok.1 - 7 1278 c.1001G>A c.(1000-1002)CGG>CAG p.R334Q PLCH1_uc011boj.1_Missense_Mutation_p.R334Q|PLCH1_uc011bol.1_Missense_Mutation_p.R316Q NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 334 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) TTGCAGCACCCGTGCATACAT 0.507 MFSD1 64747 broad.mit.edu 37 3 158537447 158537447 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:158537447C>T uc003fcl.1 + 8 692 c.662C>T c.(661-663)ACG>ATG p.T221M MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.T124M|MFSD1_uc011bow.1_Missense_Mutation_p.T182M|MFSD1_uc011box.1_Missense_Mutation_p.T148M NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 221 Helical; (Potential). transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGGGGTATAACGTGTATTCTT 0.343 SI 6476 broad.mit.edu 37 3 164735854 164735854 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:164735854A>G uc003fei.2 - 29 3486 c.3424T>C c.(3424-3426)TAC>CAC p.Y1142H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1142 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTAAGTTTGTACTGAAATACG 0.308 HNSCC(35;0.089) WDR49 151790 broad.mit.edu 37 3 167272480 167272480 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:167272480C>A uc003fev.1 - 6 1064 c.758G>T c.(757-759)GGC>GTC p.G253V WDR49_uc003feu.1_Missense_Mutation_p.G78V|WDR49_uc011bpd.1_Missense_Mutation_p.G306V|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 253 large_intestine(1)|ovary(1)|skin(1) 3 CCTCTCCCAGCCTGTAACCAG 0.328 SAMD7 344658 broad.mit.edu 37 3 169642898 169642898 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:169642898A>G uc003fgd.2 + 5 531 c.264A>G c.(262-264)GAA>GAG p.E88E SAMD7_uc003fge.2_Silent_p.E88E|SAMD7_uc011bpo.1_5'UTR NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 88 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GAAGGAATGAAATGATTCAAC 0.353 SLC7A14 57709 broad.mit.edu 37 3 170201230 170201230 + Missense_Mutation SNP C C A rs2276717 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:170201230C>A uc003fgz.2 - 6 1304 c.988G>T c.(988-990)GGG>TGG p.G330W CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 330 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCATAGAACCCATGAGCCACA 0.498 OREG0015917 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TNIK 23043 broad.mit.edu 37 3 170857333 170857333 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:170857333G>A uc003fhh.2 - 14 1690 c.1345C>T c.(1345-1347)CGA>TGA p.R449* TNIK_uc003fhi.2_Nonsense_Mutation_p.R449*|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Nonsense_Mutation_p.R449*|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Nonsense_Mutation_p.R449*|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 449 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCTAACTGTCGCCTGATGTAT 0.468 PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:178916876G>A uc003fjk.2 + 2 420 c.263G>A c.(262-264)CGA>CAA p.R88Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(26) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363 R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) MCF2L2 23101 broad.mit.edu 37 3 183017896 183017896 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:183017896C>T uc003fli.1 - 11 1292 c.1202G>A c.(1201-1203)CGG>CAG p.R401Q MCF2L2_uc003flj.1_Missense_Mutation_p.R401Q|MCF2L2_uc011bqr.1_RNA|MCF2L2_uc003flp.1_3'UTR NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 401 Spectrin. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CTCCACACACCGGGGCCTGAT 0.512 TPRG1 285386 broad.mit.edu 37 3 189028328 189028328 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:189028328G>T uc003frv.1 + 10 1860 c.633G>T c.(631-633)AAG>AAT p.K211N TPRG1_uc003frw.1_Missense_Mutation_p.K211N NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 211 0 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) AAATTTGCAAGGTAGGAGGCA 0.398 GP5 2814 broad.mit.edu 37 3 194118298 194118298 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:194118298G>A uc003ftv.1 - 2 745 c.714C>T c.(712-714)TTC>TTT p.F238F NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 238 Extracellular (Potential).|LRR 7. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GGAGCCGGTCGAAGGCCCCGG 0.567 ACAP2 23527 broad.mit.edu 37 3 195022892 195022892 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:195022892C>G uc003fun.3 - 14 1369 c.1128G>C c.(1126-1128)AAG>AAC p.K376N NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 376 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 GAGATGATTTCTTATCCAGCT 0.363 MUC4 4585 broad.mit.edu 37 3 195497165 195497165 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:195497165G>A uc011bto.1 - 7 13396 c.12936C>T c.(12934-12936)AAC>AAT p.N4312N MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Translation_Start_Site|MUC4_uc003fvb.2_Translation_Start_Site|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Translation_Start_Site|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.N4N|MUC4_uc011bti.1_Silent_p.N4N|MUC4_uc011btj.1_Silent_p.N181N|MUC4_uc011btk.1_Translation_Start_Site|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Silent_p.N204N|MUC4_uc003fvp.2_Silent_p.N153N|MUC4_uc010hzu.1_Silent_p.N1052N NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1197 NIDO. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTAGCCCCCGTTGTTTGTCA 0.567 LRCH3 84859 broad.mit.edu 37 3 197547200 197547200 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:197547200T>C uc011bul.1 + 4 544 c.539T>C c.(538-540)GTG>GCG p.V180A LRCH3_uc003fyj.1_Missense_Mutation_p.V180A|LRCH3_uc011bum.1_Missense_Mutation_p.V180A|LRCH3_uc011bun.1_Intron NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 180 LRR 5. extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) AAATAGGATGTGAGCTGCAAT 0.348 ZNF718 255403 broad.mit.edu 37 4 155880 155880 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:155880C>A uc003fzt.3 + 8 1538 c.1405C>A c.(1405-1407)CAT>AAT p.H469N ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_3'UTR NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 469 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CCTTCCTCAACATAAGAGAAC 0.358 WHSC1 7468 broad.mit.edu 37 4 1962797 1962797 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:1962797C>T uc003gdz.3 + 18 3467 c.3291C>T c.(3289-3291)ATC>ATT p.I1097I WHSC1_uc003geb.3_Silent_p.I1097I|WHSC1_uc003gec.3_Silent_p.I1097I|WHSC1_uc003ged.3_Silent_p.I1097I|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.I316I|WHSC1_uc011bvh.1_Silent_p.I158I|WHSC1_uc010icf.2_Silent_p.I445I NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1097 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGGAGCTGATCGACGAGGAGG 0.512 T IGH@ MM ADD1 118 broad.mit.edu 37 4 2899982 2899982 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:2899982T>C uc003gfr.2 + 7 1001 c.813T>C c.(811-813)CAT>CAC p.H271H ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.H271H|ADD1_uc003gfo.2_Silent_p.H271H|ADD1_uc003gfp.2_Silent_p.H271H|ADD1_uc003gfq.2_Silent_p.H271H|ADD1_uc003gfs.2_Silent_p.H271H|ADD1_uc003gft.3_Silent_p.H271H|ADD1_uc003gfu.2_Silent_p.H21H NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 271 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGCTTATCATGACTACCATG 0.453 EVC 2121 broad.mit.edu 37 4 5785435 5785435 + Missense_Mutation SNP C C T rs141820870 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:5785435C>T uc003gil.1 + 12 1904 c.1720C>T c.(1720-1722)CGC>TGC p.R574C EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 574 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) GAAGTCAAATCGCTTCCGGAG 0.597 EVC 2121 broad.mit.edu 37 4 5806514 5806514 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:5806514C>T uc003gil.1 + 17 2691 c.2507C>T c.(2506-2508)TCG>TTG p.S836L EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 836 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) AACCCTTCGTCGGGCAGCAGG 0.552 C4orf50 389197 broad.mit.edu 37 4 5982061 5982061 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:5982061C>T uc003git.1 - 2 98 c.8G>A c.(7-9)CGG>CAG p.R3Q NM_207405 NP_997288 Q6ZRC1 CD050_HUMAN hypothetical protein LOC389197 3 pancreas(2)|breast(1) 3 CTCTGAGTCCCGGAGCTGCGG 0.562 MRFAP1L1 114932 broad.mit.edu 37 4 6711156 6711156 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:6711156G>C uc003gjn.2 - 1 441 c.201C>G c.(199-201)ATC>ATG p.I67M MRFAP1L1_uc003gjo.2_Missense_Mutation_p.I67M NM_203462 NP_982287 Q96HT8 MR1L1_HUMAN Morf4 family associated protein 1-like 1 67 0 CCTGCGTTTTGATCTGGATAA 0.607 KIAA0232 9778 broad.mit.edu 37 4 6862970 6862970 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:6862970G>A uc003gjr.3 + 7 1324 c.861G>A c.(859-861)TCG>TCA p.S287S KIAA0232_uc003gjq.3_Silent_p.S287S NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 287 ATP binding ovary(2) 2 GCCCTCGCTCGTGGTCTTCTG 0.428 KIAA0232 9778 broad.mit.edu 37 4 6864819 6864819 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:6864819T>A uc003gjr.3 + 7 3173 c.2710T>A c.(2710-2712)TCA>ACA p.S904T KIAA0232_uc003gjq.3_Missense_Mutation_p.S904T NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 904 ATP binding ovary(2) 2 TAGTGAGCTATCAAACGTGGA 0.468 ACOX3 8310 broad.mit.edu 37 4 8411994 8411994 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:8411994G>A uc010idk.2 - 6 777 c.632C>T c.(631-633)GCT>GTT p.A211V ACOX3_uc003glc.3_Missense_Mutation_p.A211V|ACOX3_uc003gld.3_Missense_Mutation_p.A211V|ACOX3_uc003gle.1_Missense_Mutation_p.A116V NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 211 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 ACACAGCTTAGCAAACACCAC 0.463 LDB2 9079 broad.mit.edu 37 4 16900030 16900030 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:16900030G>A uc003goz.2 - 1 395 c.79C>T c.(79-81)CAG>TAG p.Q27* LDB2_uc003gpa.2_Nonsense_Mutation_p.Q27*|LDB2_uc003gpb.2_Nonsense_Mutation_p.Q27*|LDB2_uc011bxh.1_Nonsense_Mutation_p.Q27*|LDB2_uc010iee.2_Nonsense_Mutation_p.Q27* NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 27 LIM domain binding|transcription cofactor activity 0 TACTCTGGCTGTACCATGTAT 0.443 SLIT2 9353 broad.mit.edu 37 4 20620460 20620460 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:20620460C>G uc003gpr.1 + 37 4622 c.4418C>G c.(4417-4419)ACA>AGA p.T1473R SLIT2_uc003gps.1_Missense_Mutation_p.T1465R NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1473 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GCTTGCCAAACAACCAAGAAG 0.483 GPR125 166647 broad.mit.edu 37 4 22415322 22415322 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:22415322C>T uc003gqm.1 - 13 2190 c.1925G>A c.(1924-1926)CGC>CAC p.R642H GPR125_uc010ieo.1_Missense_Mutation_p.R498H NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 642 Extracellular (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) CTTTCCATTGCGGAATGCAAT 0.423 PPARGC1A 10891 broad.mit.edu 37 4 23830129 23830129 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:23830129G>A uc003gqs.2 - 5 771 c.651C>T c.(649-651)AAC>AAT p.N217N PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 217 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) GAGGGTCATCGTTTGTGGTCA 0.468 FAM114A1 92689 broad.mit.edu 37 4 38910256 38910256 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:38910256T>C uc003gtn.2 + 7 877 c.701T>C c.(700-702)ATC>ACC p.I234T FAM114A1_uc011byh.1_Missense_Mutation_p.I27T NM_138389 NP_612398 Q8IWE2 NXP20_HUMAN hypothetical protein LOC92689 234 cytoplasm ovary(1) 1 TTGGAATTCATCGGCAAGAAA 0.458 FAM114A1 92689 broad.mit.edu 37 4 38910296 38910296 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:38910296G>A uc003gtn.2 + 7 917 c.741G>A c.(739-741)CCG>CCA p.P247P FAM114A1_uc011byh.1_Silent_p.P40P NM_138389 NP_612398 Q8IWE2 NXP20_HUMAN hypothetical protein LOC92689 247 cytoplasm ovary(1) 1 AAAGTGACCCGGGCTTTAAGC 0.418 KLHL5 51088 broad.mit.edu 37 4 39104951 39104951 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:39104951A>G uc003gts.2 + 7 1558 c.1483A>G c.(1483-1485)ACT>GCT p.T495A KLHL5_uc003gtp.2_Missense_Mutation_p.T449A|KLHL5_uc003gtq.2_Missense_Mutation_p.T308A|KLHL5_uc003gtr.1_Missense_Mutation_p.T495A|KLHL5_uc003gtt.2_Missense_Mutation_p.T434A NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 495 Kelch 1. cytoplasm|cytoskeleton actin binding ovary(1) 1 AAATATGTGGACTCCAGTAGC 0.373 UGDH 7358 broad.mit.edu 37 4 39512462 39512462 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:39512462G>T uc003guk.1 - 4 600 c.284C>A c.(283-285)ACC>AAC p.T95N UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Intron NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 95 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) CATTCCATAGGTTTTTGTTGG 0.413 LIMCH1 22998 broad.mit.edu 37 4 41687824 41687824 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:41687824C>T uc003gvu.3 + 23 2967 c.2913C>T c.(2911-2913)ATC>ATT p.I971I LIMCH1_uc003gvv.3_Silent_p.I971I|LIMCH1_uc003gvw.3_Silent_p.I970I|LIMCH1_uc003gvx.3_Silent_p.I983I|LIMCH1_uc003gwe.3_Silent_p.I894I|LIMCH1_uc003gvy.3_Silent_p.I799I|LIMCH1_uc003gwa.3_Silent_p.I811I|LIMCH1_uc003gvz.3_Silent_p.I1355I|LIMCH1_uc011byu.1_Silent_p.I804I|LIMCH1_uc003gwc.3_Silent_p.I816I|LIMCH1_uc003gwd.3_Silent_p.I804I|LIMCH1_uc011byv.1_Silent_p.I721I|LIMCH1_uc011byw.1_Silent_p.I270I NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 971 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 ACCATCAGATCGAGTCTCCCA 0.428 LIMCH1 22998 broad.mit.edu 37 4 41691639 41691639 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:41691639T>C uc003gvu.3 + 25 3164 c.3110T>C c.(3109-3111)ATC>ACC p.I1037T LIMCH1_uc003gvv.3_Missense_Mutation_p.I1011T|LIMCH1_uc003gvw.3_Missense_Mutation_p.I1010T|LIMCH1_uc003gvx.3_Missense_Mutation_p.I1023T|LIMCH1_uc003gwe.3_Missense_Mutation_p.I934T|LIMCH1_uc003gvy.3_Missense_Mutation_p.I839T|LIMCH1_uc003gwa.3_Missense_Mutation_p.I851T|LIMCH1_uc003gvz.3_Missense_Mutation_p.I1421T|LIMCH1_uc011byu.1_Missense_Mutation_p.I870T|LIMCH1_uc003gwc.3_Missense_Mutation_p.I856T|LIMCH1_uc003gwd.3_Missense_Mutation_p.I844T|LIMCH1_uc011byv.1_Missense_Mutation_p.I787T|LIMCH1_uc011byw.1_Missense_Mutation_p.I310T NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 1037 LIM zinc-binding. actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 TATTTTCACATCCAGTGTTTC 0.453 DCAF4L1 285429 broad.mit.edu 37 4 41984149 41984149 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:41984149G>T uc003gwk.2 + 1 437 c.340G>T c.(340-342)GTG>TTG p.V114L NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 114 skin(1) 1 TTCGTTCCACGTGTACGTGCT 0.557 GSX2 170825 broad.mit.edu 37 4 54967794 54967794 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:54967794C>T uc010igp.1 + 2 884 c.620C>T c.(619-621)ACG>ATG p.T207M PDGFRA_uc003haa.2_Intron NM_133267 NP_573574 Q9BZM3 GSX2_HUMAN GS homeobox 2 207 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) AGGATGAGGACGGCGTTCACT 0.577 KIT 3815 broad.mit.edu 37 4 55569973 55569973 + Silent SNP G G A rs142772432 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:55569973G>A uc010igr.2 + 5 927 c.840G>A c.(838-840)GCG>GCA p.A280A KIT_uc010igs.2_Silent_p.A280A NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 280 Extracellular (Potential).|Ig-like C2-type 3. 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 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) TCAGTTCAGCGAGAGTTAATG 0.388 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 EPHA5 2044 broad.mit.edu 37 4 66356166 66356166 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:66356166A>T uc003hcy.2 - 5 1524 c.1331T>A c.(1330-1332)GTG>GAG p.V444E EPHA5_uc003hcx.2_Missense_Mutation_p.V375E|EPHA5_uc003hcz.2_Missense_Mutation_p.V444E|EPHA5_uc011cah.1_Missense_Mutation_p.V444E|EPHA5_uc011cai.1_Missense_Mutation_p.V444E|EPHA5_uc003hda.2_Missense_Mutation_p.V444E NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 444 Fibronectin type-III 1.|Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CACTCCATTCACTGCCTCAAT 0.498 TSP Lung(17;0.13) TMPRSS11A 339967 broad.mit.edu 37 4 68812182 68812182 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:68812182T>C uc003hdr.1 - 2 240 c.119A>G c.(118-120)CAC>CGC p.H40R LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.H40R NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A isoform 1 40 Extracellular (Potential). cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity skin(1) 1 TACTAGGAAGTGAACCAGGAG 0.388 SULT1E1 6783 broad.mit.edu 37 4 70719960 70719960 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:70719960G>A uc003heo.2 - 4 457 c.344C>T c.(343-345)GCC>GTC p.A115V SULT1E1_uc010ihv.1_Missense_Mutation_p.A115V NM_005420 NP_005411 P49888 ST1E1_HUMAN estrogen sulfotransferase 115 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity ovary(1) 1 CCAAAATGAGGCAGGAAGAAG 0.353 AMBN 258 broad.mit.edu 37 4 71472342 71472342 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:71472342C>T uc003hfl.2 + 13 1314 c.1239C>T c.(1237-1239)ACC>ACT p.T413T NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 413 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) AAGAAGCAACCATGGATACCA 0.517 SLC4A4 8671 broad.mit.edu 37 4 72338444 72338444 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:72338444C>T uc003hfy.2 + 14 1777 c.1660C>T c.(1660-1662)CGC>TGC p.R554C SLC4A4_uc010iic.2_Missense_Mutation_p.R554C|SLC4A4_uc010iib.2_Missense_Mutation_p.R554C|SLC4A4_uc003hfz.2_Missense_Mutation_p.R554C|SLC4A4_uc003hgc.3_Missense_Mutation_p.R510C|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.R432C|SLC4A4_uc003hgb.3_Missense_Mutation_p.R510C NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 554 Cytoplasmic (Potential). R -> H (in pRTA-OA; mistargeting and altered function). R->D: Prevents membrane targeting. basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTTGGAGTTTCGCCTTTGGAT 0.408 NAAA 27163 broad.mit.edu 37 4 76836121 76836121 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:76836121G>A uc003hjb.2 - 10 1080 c.1016C>T c.(1015-1017)ACG>ATG p.T339M NAAA_uc003hja.2_Intron NM_014435 NP_055250 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase isoform 1 339 lipid metabolic process lysosome hydrolase activity skin(1) 1 GCTCATTACCGTAGTATAAAT 0.423 GK2 2712 broad.mit.edu 37 4 80329115 80329115 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:80329115A>G uc003hlu.2 - 1 258 c.240T>C c.(238-240)ATT>ATC p.I80I NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 80 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 TGGATATATCAATATTCAGTT 0.428 PRDM8 56978 broad.mit.edu 37 4 81123201 81123201 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:81123201C>T uc010ijo.2 + 8 1424 c.585C>T c.(583-585)GGC>GGT p.G195G PRDM8_uc003hmb.3_Silent_p.G195G|PRDM8_uc003hmc.3_Silent_p.G195G NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 195 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AACAAggcggcggcgtgggca 0.343 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RASGEF1B 153020 broad.mit.edu 37 4 82355838 82355838 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:82355838A>G uc003hmi.1 - 11 1299 c.1155T>C c.(1153-1155)AAT>AAC p.N385N RASGEF1B_uc003hmj.1_Silent_p.N384N|RASGEF1B_uc010ijq.1_Silent_p.N343N NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 385 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 CACAACCCTCATTGAGGAAAT 0.413 WDFY3 23001 broad.mit.edu 37 4 85609395 85609395 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:85609395G>A uc003hpd.2 - 62 9795 c.9387C>T c.(9385-9387)ACC>ACT p.T3129T NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 3129 WD 2. 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) CGCAGGTGACGGTATCAGTGT 0.463 WDFY3 23001 broad.mit.edu 37 4 85722917 85722917 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:85722917C>T uc003hpd.2 - 17 3116 c.2708G>A c.(2707-2709)CGA>CAA p.R903Q NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 903 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) CTGCAGCAGTCGTGCATGAAG 0.522 C4orf36 132989 broad.mit.edu 37 4 87808959 87808959 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:87808959A>G uc003hqe.3 - 4 621 c.308T>C c.(307-309)CTG>CCG p.L103P NM_144645 NP_653246 Q96KX1 CD036_HUMAN hypothetical protein LOC132989 103 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00141) CCTTTCCCTCAGGAGAAGCTG 0.408 AFF1 4299 broad.mit.edu 37 4 87968255 87968255 + Nonsense_Mutation SNP G G T rs148083475 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:87968255G>T uc003hqj.3 + 3 954 c.547G>T c.(547-549)GGA>TGA p.G183* AFF1_uc011ccx.1_Nonsense_Mutation_p.G124*|AFF1_uc003hqh.1_Nonsense_Mutation_p.G190*|AFF1_uc011ccy.1_Nonsense_Mutation_p.G190*|AFF1_uc011ccz.1_Nonsense_Mutation_p.G190*|AFF1_uc003hqk.3_Nonsense_Mutation_p.G183*|AFF1_uc011cda.1_Intron NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 183 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AAGAGCTGACGGAGACCACTG 0.567 MMRN1 22915 broad.mit.edu 37 4 90830464 90830464 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:90830464A>G uc003hst.2 + 2 732 c.661A>G c.(661-663)ACA>GCA p.T221A MMRN1_uc010iku.2_Missense_Mutation_p.T187A|MMRN1_uc011cds.1_5'UTR NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 221 EMI. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GTTATCTCCCACAGTGATATT 0.403 SMARCAD1 56916 broad.mit.edu 37 4 95199819 95199819 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:95199819C>T uc003htc.3 + 18 2486 c.2231C>T c.(2230-2232)TCG>TTG p.S744L SMARCAD1_uc003htb.3_Missense_Mutation_p.S744L|SMARCAD1_uc003htd.3_Missense_Mutation_p.S744L|SMARCAD1_uc010ila.2_Missense_Mutation_p.S607L|SMARCAD1_uc011cdw.1_Missense_Mutation_p.S314L NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 744 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TGTGCAATGTCGGAGAAGCAG 0.343 METAP1 23173 broad.mit.edu 37 4 99962266 99962266 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:99962266G>A uc003huf.3 + 6 622 c.505G>A c.(505-507)GCT>ACT p.A169T METAP1_uc003hug.2_RNA NM_015143 NP_055958 P53582 AMPM1_HUMAN methionyl aminopeptidase 1 169 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) AATAGATCACGCTGTACACTT 0.333 NPNT 255743 broad.mit.edu 37 4 106863655 106863655 + Missense_Mutation SNP A A G rs144959760 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:106863655A>G uc003hya.2 + 8 1160 c.955A>G c.(955-957)ACA>GCA p.T319A NPNT_uc011cfc.1_Missense_Mutation_p.T336A|NPNT_uc011cfd.1_Missense_Mutation_p.T349A|NPNT_uc011cfe.1_Missense_Mutation_p.T349A|NPNT_uc010ilt.1_Missense_Mutation_p.T319A|NPNT_uc011cff.1_Missense_Mutation_p.T319A|NPNT_uc010ilu.1_Missense_Mutation_p.T215A NM_001033047 NP_001028219 Q6UXI9 NPNT_HUMAN nephronectin precursor 319 Pro-rich. cell differentiation membrane calcium ion binding skin(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AACAAGACCTACACCAAAGCC 0.502 ENPEP 2028 broad.mit.edu 37 4 111397859 111397859 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:111397859G>A uc003iab.3 + 1 631 c.289G>A c.(289-291)GTC>ATC p.V97I NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 97 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GCCGGACTTCGTCAACCCAGT 0.627 NDST3 9348 broad.mit.edu 37 4 118975701 118975701 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:118975701A>G uc003ibx.2 + 2 1039 c.636A>G c.(634-636)AAA>AAG p.K212K NDST3_uc011cgf.1_Silent_p.K212K|NDST3_uc003ibw.2_Silent_p.K212K NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 212 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 AGCTTGAAAAAGGTTCTTTAC 0.363 PRSS12 8492 broad.mit.edu 37 4 119237471 119237471 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:119237471G>A uc003ica.1 - 6 1205 c.1158C>T c.(1156-1158)GTC>GTT p.V386V NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 386 membrane scavenger receptor activity skin(1) 1 CAAGTCTGATGACCCCATCTG 0.443 EXOSC9 5393 broad.mit.edu 37 4 122731160 122731160 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:122731160G>A uc003iea.2 + 7 752 c.644G>A c.(643-645)CGT>CAT p.R215H EXOSC9_uc003idz.2_Missense_Mutation_p.R215H|EXOSC9_uc003ieb.2_Missense_Mutation_p.R199H|EXOSC9_uc010inp.1_RNA NM_005033 NP_005024 Q06265 EXOS9_HUMAN exosome component 9 isoform 2 215 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 CGAGAAGAACGTGTGATGGAT 0.403 KIAA1109 84162 broad.mit.edu 37 4 123171679 123171679 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:123171679G>A uc003ieh.2 + 35 5918 c.5873G>A c.(5872-5874)CGG>CAG p.R1958Q KIAA1109_uc003iek.2_Missense_Mutation_p.R577Q NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1958 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CCATGTGACCGGACAAGCCCT 0.383 FAT4 79633 broad.mit.edu 37 4 126328095 126328095 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:126328095G>A uc003ifj.3 + 3 5368 c.5368G>A c.(5368-5370)GAC>AAC p.D1790N FAT4_uc011cgp.1_Missense_Mutation_p.D88N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1790 Cadherin 17.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTTTCGCATCGACCCAGAATC 0.473 PCDH10 57575 broad.mit.edu 37 4 134072881 134072881 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:134072881G>A uc003iha.2 + 1 2412 c.1586G>A c.(1585-1587)CGC>CAC p.R529H uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R529H NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 529 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TACGCCCTGCGCTCCTTCGAC 0.577 NAA15 80155 broad.mit.edu 37 4 140275179 140275179 + Splice_Site SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:140275179G>T uc003ihu.1 + 10 1271 c.1015_splice c.e10-1 p.V339_splice NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 TTGTACTCTAGGTGGCAATCA 0.313 ARHGAP10 79658 broad.mit.edu 37 4 148984398 148984398 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:148984398G>A uc003ilf.2 + 21 2127 c.2127G>A c.(2125-2127)TCG>TCA p.S709S ARHGAP10_uc003ilg.2_Intron|ARHGAP10_uc003ilh.2_Silent_p.S290S|ARHGAP10_uc003ili.2_Silent_p.S142S NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 709 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CACCCGGGTCGTCCCCTTTCC 0.557 DCLK2 166614 broad.mit.edu 37 4 151169505 151169505 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:151169505G>A uc003ilm.3 + 14 2024 c.1924G>A c.(1924-1926)GCG>ACG p.A642T DCLK2_uc003iln.3_Missense_Mutation_p.A641T|DCLK2_uc003ilo.3_Missense_Mutation_p.A659T|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 642 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) TCGGTGTACCGCGGGACAAAT 0.493 TIGD4 201798 broad.mit.edu 37 4 153691221 153691221 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:153691221A>G uc003imy.2 - 2 1718 c.936T>C c.(934-936)TCT>TCC p.S312S NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 312 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) TACATTTGGAAGATAAACATG 0.343 GRIA2 2891 broad.mit.edu 37 4 158224771 158224771 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:158224771C>A uc003ipm.3 + 3 756 c.297C>A c.(295-297)ACC>ACA p.T99T GRIA2_uc011cit.1_Silent_p.T52T|GRIA2_uc003ipl.3_Silent_p.T99T|GRIA2_uc003ipk.3_Silent_p.T52T|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 99 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CTGTAAATACCATCACATCAT 0.418 CCDC111 201973 broad.mit.edu 37 4 185599425 185599425 + Nonsense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:185599425C>A uc003iwk.2 + 8 1317 c.884C>A c.(883-885)TCA>TAA p.S295* CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Nonsense_Mutation_p.S295*|CCDC111_uc003iwl.2_Nonsense_Mutation_p.S295*|CCDC111_uc003iwm.2_Nonsense_Mutation_p.S166*|CCDC111_uc003iwn.2_Intron NM_152683 NP_689896 Q96LW4 CC111_HUMAN coiled-coil domain containing 111 295 DNA replication, synthesis of RNA primer DNA primase activity central_nervous_system(1) 1 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) CTATATAAATCATCAAAAATT 0.289 TRIP13 9319 broad.mit.edu 37 5 908507 908507 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:908507C>T uc003jbr.2 + 9 907 c.797C>T c.(796-798)GCG>GTG p.A266V TRIP13_uc010ite.1_Missense_Mutation_p.A266V NM_004237 NP_004228 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 266 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) GCCTGCAGGGCGGGCACCGAG 0.562 IRX4 50805 broad.mit.edu 37 5 1879766 1879766 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:1879766C>T uc003jcz.2 - 4 707 c.588G>A c.(586-588)GCG>GCA p.A196A IRX4_uc011cmf.1_Silent_p.A57A NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 196 Homeobox; TALE-type. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) GGCGCCGGCGCGCGTTGGCGA 0.552 CCT5 22948 broad.mit.edu 37 5 10264815 10264815 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:10264815C>T uc003jeq.2 + 11 1717 c.1546C>T c.(1546-1548)CAG>TAG p.Q516* CCT5_uc003jer.2_3'UTR|CCT5_uc010its.2_3'UTR|CCT5_uc011cmr.1_Nonsense_Mutation_p.Q461*|CCT5_uc011cms.1_Nonsense_Mutation_p.Q478*|CCT5_uc011cmt.1_Nonsense_Mutation_p.Q423* NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 516 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 CAAAAAGCAACAGATATCTCT 0.333 DNAH5 1767 broad.mit.edu 37 5 13786321 13786321 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:13786321C>T uc003jfd.2 - 52 8829 c.8787G>A c.(8785-8787)GTG>GTA p.V2929V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2929 AAA 4 (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) CTGCAAAGAACACCATGTCCA 0.473 Kartagener_syndrome TRIO 7204 broad.mit.edu 37 5 14419959 14419959 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:14419959C>T uc003jff.2 + 34 5038 c.5032C>T c.(5032-5034)CGA>TGA p.R1678* TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Nonsense_Mutation_p.R1327* NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1678 SH3 1. 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) GCTGACCATCCGACGGGGCCA 0.617 BASP1 10409 broad.mit.edu 37 5 17275415 17275415 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:17275415G>A uc003jfx.2 + 2 269 c.90G>A c.(88-90)GCG>GCA p.A30A NM_006317 NP_006308 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 30 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding 0 AGGGCGCGGCGACGGAAGAGG 0.632 CDH18 1016 broad.mit.edu 37 5 19591227 19591227 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:19591227A>G uc003jgc.2 - 6 1315 c.938T>C c.(937-939)ATG>ACG p.M313T CDH18_uc003jgd.2_Missense_Mutation_p.M313T|CDH18_uc011cnm.1_Missense_Mutation_p.M313T NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 313 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GAATATTCCCATGCCATCACC 0.408 CDH12 1010 broad.mit.edu 37 5 21842351 21842351 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:21842351G>A uc010iuc.2 - 5 1191 c.733C>T c.(733-735)CAG>TAG p.Q245* CDH12_uc011cno.1_Nonsense_Mutation_p.Q205*|CDH12_uc003jgk.2_Nonsense_Mutation_p.Q245* NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 245 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CCTCCAAGCTGTCCTCCCATA 0.423 HNSCC(59;0.17) RNASEN 29102 broad.mit.edu 37 5 31526774 31526774 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:31526774G>A uc003jhg.2 - 4 625 c.266C>T c.(265-267)GCG>GTG p.A89V RNASEN_uc003jhh.2_Missense_Mutation_p.A89V|RNASEN_uc003jhi.2_Missense_Mutation_p.A89V|RNASEN_uc010iui.1_Missense_Mutation_p.A80V NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 89 Pro-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 AGGGCCTTGCGCTGACGGAGG 0.602 PDZD2 23037 broad.mit.edu 37 5 32058117 32058117 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:32058117C>T uc003jhl.2 + 12 2496 c.2108C>T c.(2107-2109)GCG>GTG p.A703V PDZD2_uc003jhm.2_Missense_Mutation_p.A703V|PDZD2_uc011cnx.1_Missense_Mutation_p.A529V NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 703 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GGAGCCTCAGCGGGAGGTTCC 0.582 AMACR 23600 broad.mit.edu 37 5 33989221 33989221 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:33989221T>C uc003jig.2 - 5 1208 c.1126A>G c.(1126-1128)AAT>GAT p.N376D AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.N361D|AMACR_uc003jij.2_Missense_Mutation_p.N376D NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 376 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 TTTACCTTATTACTTTCAATG 0.383 C1QTNF3 114899 broad.mit.edu 37 5 34033499 34033499 + Silent SNP G G A rs147942281 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:34033499G>A uc003jin.2 - 3 348 c.261C>T c.(259-261)GGC>GGT p.G87G C1QTNF3_uc003jio.2_Silent_p.G160G NM_030945 NP_112207 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 87 Collagen-like. collagen 0 all_lung(31;0.0207) CACCTTTGTCGCCCTTCTCAC 0.542 NIPBL 25836 broad.mit.edu 37 5 37000602 37000602 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:37000602T>C uc003jkl.3 + 12 3931 c.3432T>C c.(3430-3432)GGT>GGC p.G1144G NIPBL_uc003jkk.3_Silent_p.G1144G NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1144 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 ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 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) CAGGTGGTGGTCGTTATCGAA 0.463 C5orf42 65250 broad.mit.edu 37 5 37196010 37196010 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:37196010G>C uc011cpa.1 - 21 3992 c.3761C>G c.(3760-3762)CCT>CGT p.P1254R C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.P329R|C5orf42_uc011cpb.1_Missense_Mutation_p.P135R NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1254 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) AGCTGCTCCAGGTCTAAAAAA 0.378 NUP155 9631 broad.mit.edu 37 5 37350336 37350336 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:37350336C>T uc003jku.1 - 7 873 c.755G>A c.(754-756)AGG>AAG p.R252K NUP155_uc003jkt.1_Missense_Mutation_p.R193K|NUP155_uc010iuz.1_Missense_Mutation_p.R252K NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 252 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTTTATTTTCCTACATCTTTG 0.358 GDNF 2668 broad.mit.edu 37 5 37815867 37815867 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:37815867T>C uc011cpi.1 - 3 722 c.522A>G c.(520-522)GTA>GTG p.V174V GDNF_uc011cpc.1_Silent_p.V96V|GDNF_uc011cpd.1_Silent_p.V122V|GDNF_uc011cpe.1_Silent_p.V148V|GDNF_uc011cpf.1_Silent_p.V148V|GDNF_uc011cpg.1_Silent_p.V191V|GDNF_uc011cph.1_Silent_p.V165V NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 174 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) ATGCCTGCCCTACTTTGTCAC 0.428 C6 729 broad.mit.edu 37 5 41149542 41149542 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:41149542G>A uc003jmk.2 - 17 2634 c.2424C>T c.(2422-2424)AAC>AAT p.N808N C6_uc003jml.1_Silent_p.N808N NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 808 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TAAAGTAATCGTTGGAGTCTG 0.423 GPBP1 65056 broad.mit.edu 37 5 56527097 56527097 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:56527097C>T uc003jrh.3 + 5 1634 c.360C>T c.(358-360)ACC>ACT p.T120T GPBP1_uc010iwg.2_Silent_p.T120T|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Silent_p.T127T|GPBP1_uc003jrk.3_Silent_p.T127T|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) ACAATGAAACCGGGAGGAAAG 0.393 GPBP1 65056 broad.mit.edu 37 5 56546783 56546783 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:56546783T>C uc003jrh.3 + 10 2249 c.975T>C c.(973-975)GAT>GAC p.D325D GPBP1_uc010iwg.2_Silent_p.D345D|GPBP1_uc003jri.3_Silent_p.D154D|GPBP1_uc003jrj.3_Silent_p.D317D|GPBP1_uc003jrk.3_Silent_p.D332D|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) AAAATCAGGATGACGACTCAT 0.294 HTR1A 3350 broad.mit.edu 37 5 63256803 63256803 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:63256803C>T uc011cqt.1 - 1 744 c.744G>A c.(742-744)CCG>CCA p.P248P NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 248 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCTTGGGCTGCGGGGCGGGAG 0.642 TRIM23 373 broad.mit.edu 37 5 64910016 64910016 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:64910016T>A uc003jty.2 - 3 361 c.275A>T c.(274-276)AAT>ATT p.N92I TRIM23_uc003jtw.2_Missense_Mutation_p.N92I|TRIM23_uc003jtx.2_Missense_Mutation_p.N92I NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 92 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) TAAAGCAAAATTTTTTTTCAA 0.358 ERBB2IP 55914 broad.mit.edu 37 5 65320250 65320250 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:65320250T>G uc003juk.1 + 10 1097 c.789T>G c.(787-789)AAT>AAG p.N263K ERBB2IP_uc003juh.1_Missense_Mutation_p.N263K|ERBB2IP_uc003jui.1_Missense_Mutation_p.N263K|ERBB2IP_uc003juj.1_Missense_Mutation_p.N263K|ERBB2IP_uc011cqx.1_Missense_Mutation_p.N263K|ERBB2IP_uc011cqy.1_Missense_Mutation_p.N263K|ERBB2IP_uc011cqz.1_Missense_Mutation_p.N263K|ERBB2IP_uc010iwx.1_Missense_Mutation_p.N263K|ERBB2IP_uc003jul.1_Missense_Mutation_p.N263K NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 263 LRR 11. basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TATCAAGCAATTCACTTCAGC 0.303 MAST4 375449 broad.mit.edu 37 5 66448592 66448592 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:66448592G>A uc003jut.1 + 24 2924 c.2856G>A c.(2854-2856)CCG>CCA p.P952P MAST4_uc003juw.2_Silent_p.P880P NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1144 PDZ. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CACATCAGCCGATTGTGATCC 0.537 MAP1B 4131 broad.mit.edu 37 5 71491093 71491093 + Silent SNP G G A rs140902387 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:71491093G>A uc003kbw.3 + 5 2152 c.1911G>A c.(1909-1911)ACG>ACA p.T637T MAP1B_uc010iyw.1_Silent_p.T654T|MAP1B_uc010iyx.1_Silent_p.T511T|MAP1B_uc010iyy.1_Silent_p.T511T NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 637 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats). microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AGGAGAAGACGGTGAAAAAGG 0.453 RGNEF 64283 broad.mit.edu 37 5 73163798 73163798 + Silent SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:73163798A>T uc011csq.1 + 18 2261 c.2250A>T c.(2248-2250)GGA>GGT p.G750G RGNEF_uc003kcx.2_Silent_p.G750G|RGNEF_uc010izf.2_Silent_p.G750G|RGNEF_uc011csr.1_Silent_p.G437G NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 750 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) AGACTGTGGGACAGGTCCATC 0.517 AGGF1 55109 broad.mit.edu 37 5 76344774 76344774 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:76344774G>C uc003ket.2 + 8 1687 c.1327G>C c.(1327-1329)GAA>CAA p.E443Q NM_018046 NP_060516 Q8N302 AGGF1_HUMAN angiogenic factor VG5Q 443 FHA. angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) AAAGGATATGGAACATACTCT 0.289 SCAMP1 9522 broad.mit.edu 37 5 77717683 77717683 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:77717683T>C uc003kfl.2 + 6 688 c.531T>C c.(529-531)GAT>GAC p.D177D SCAMP1_uc010jaa.2_Intron|SCAMP1_uc011ctc.1_RNA|SCAMP1_uc011ctd.1_RNA|SCAMP1_uc003kfm.2_RNA NM_004866 NP_004857 O15126 SCAM1_HUMAN secretory carrier membrane protein 1 177 Lumenal (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane|recycling endosome membrane|trans-Golgi network protein binding 0 all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37) TTTGTGTTGATTCTGCAAGAG 0.373 CMYA5 202333 broad.mit.edu 37 5 79031505 79031505 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:79031505T>C uc003kgc.2 + 2 6989 c.6917T>C c.(6916-6918)GTA>GCA p.V2306A NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2306 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATAAACTCAGTAGTTACTTCT 0.363 XRCC4 7518 broad.mit.edu 37 5 82400785 82400785 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:82400785T>A uc003kib.2 + 2 175 c.47T>A c.(46-48)ATA>AAA p.I16K XRCC4_uc003kia.1_Missense_Mutation_p.I16K|XRCC4_uc003kid.2_Missense_Mutation_p.I16K|XRCC4_uc003kic.2_Missense_Mutation_p.I16K|XRCC4_uc003kie.2_Missense_Mutation_p.I16K|XRCC4_uc003kif.1_Missense_Mutation_p.I16K NM_022406 NP_071801 Q13426 XRCC4_HUMAN X-ray repair cross complementing protein 4 16 DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm DNA binding|protein C-terminus binding skin(3) 3 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) GAACCCAGTATAACTCATTTT 0.338 NHEJ EDIL3 10085 broad.mit.edu 37 5 83360539 83360539 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:83360539A>C uc003kio.1 - 8 1351 c.932T>G c.(931-933)CTT>CGT p.L311R EDIL3_uc003kip.1_Missense_Mutation_p.L301R|EDIL3_uc011ctt.1_Missense_Mutation_p.L88R NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 311 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) ACAGCCAAGAAGTTCCATTCG 0.373 GPR98 84059 broad.mit.edu 37 5 89924611 89924611 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:89924611A>G uc003kju.2 + 8 1567 c.1471A>G c.(1471-1473)ACA>GCA p.T491A GPR98_uc003kjt.2_Translation_Start_Site NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 491 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCTGCCTCATACAATACGAGG 0.423 FAM172A 83989 broad.mit.edu 37 5 93386492 93386492 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:93386492T>G uc010jbd.2 - 4 460 c.253A>C c.(253-255)AAC>CAC p.N85H FAM172A_uc011cuf.1_Missense_Mutation_p.N39H|FAM172A_uc011cug.1_Missense_Mutation_p.N39H|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.N85H NM_032042 NP_114431 Q8WUF8 F172A_HUMAN hypothetical protein LOC83989 isoform 1 85 endoplasmic reticulum|extracellular region 0 TCCCGGTAGTTAAAAACAAAT 0.323 TSLP 85480 broad.mit.edu 37 5 110409325 110409325 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:110409325A>G uc003kpb.2 + 3 532 c.333A>G c.(331-333)CCA>CCG p.P111P TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_Silent_p.P15P NM_033035 NP_149024 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin isoform 1 111 extracellular space cytokine activity 0 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) TCTGGTGCCCAGGCTATTCGG 0.527 FAM170A 340069 broad.mit.edu 37 5 118970280 118970280 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:118970280G>A uc003ksm.2 + 3 1047 c.837G>A c.(835-837)GAG>GAA p.E279E FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Silent_p.E279E|FAM170A_uc003kso.2_Silent_p.E232E NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 279 Glu-rich. intracellular zinc ion binding skin(1) 1 CCCaagatgagcaggaggagg 0.333 SRFBP1 153443 broad.mit.edu 37 5 121309939 121309939 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:121309939C>T uc003kst.1 + 2 157 c.85C>T c.(85-87)CGA>TGA p.R29* NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TTTAGTTATCCGAAAACTTGT 0.318 ZNF474 133923 broad.mit.edu 37 5 121488306 121488306 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:121488306C>T uc003ksv.2 + 2 997 c.621C>T c.(619-621)GGC>GGT p.G207G NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 207 intracellular zinc ion binding 0 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) ATCTTACTGGCCTCAAGAAAG 0.488 FBN2 2201 broad.mit.edu 37 5 127728848 127728848 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:127728848C>T uc003kuu.2 - 10 1884 c.1445G>A c.(1444-1446)GGA>GAA p.G482E FBN2_uc003kuv.2_Missense_Mutation_p.G449E NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 482 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GATGATAGGTCCCTGTCCCCC 0.498 SLC22A5 6584 broad.mit.edu 37 5 131726528 131726528 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:131726528G>A uc003kww.3 + 7 1463 c.1199G>A c.(1198-1200)CGC>CAC p.R400H SLC22A5_uc003kwx.3_Missense_Mutation_p.R424H|SLC22A5_uc010jdr.1_Missense_Mutation_p.R20H NM_003060 NP_003051 O76082 S22A5_HUMAN solute carrier family 22 member 5 400 Cytoplasmic (Potential). positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity 0 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TTGCCCCGGCGCTATTCCATG 0.547 PHF15 23338 broad.mit.edu 37 5 133914938 133914938 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:133914938T>C uc003kzo.1 + 11 2483 c.2304T>C c.(2302-2304)GGT>GGC p.G768G PHF15_uc011cxt.1_Silent_p.G812G|PHF15_uc003kzk.2_Silent_p.G828G|PHF15_uc003kzm.2_Silent_p.G769G|PHF15_uc003kzn.2_3'UTR NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 768 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCGAGGACGGTGGGGTGCAGC 0.642 PITX1 5307 broad.mit.edu 37 5 134364597 134364597 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:134364597C>T uc010jea.2 - 3 1210 c.817G>A c.(817-819)GTC>ATC p.V273I PITX1_uc011cxy.1_Missense_Mutation_p.V273I NM_002653 NP_002644 P78337 PITX1_HUMAN paired-like homeodomain transcription factor 1 273 Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding p.V273I(1) ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) TCCCGGTAGACGCTGTAGGGC 0.672 FBXL21 26223 broad.mit.edu 37 5 135272337 135272337 + Silent SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:135272337A>C uc010jec.1 + 1 75 c.54A>C c.(52-54)GCA>GCC p.A18A FBXL21_uc003lbc.2_Intron NM_012159 NP_036291 Q9UKT6 FXL21_HUMAN F-box and leucine-rich repeat protein 21 18 rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity lung(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGTCAGGAGCAGCGAAACAGC 0.393 KDM3B 51780 broad.mit.edu 37 5 137715371 137715371 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:137715371C>T uc003lcy.1 + 5 879 c.679C>T c.(679-681)CGT>TGT p.R227C KDM3B_uc010jew.1_5'UTR NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 227 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 CTCCATCACTCGTCTTATGGA 0.463 CTNNA1 1495 broad.mit.edu 37 5 138119057 138119057 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:138119057A>G uc003ldh.2 + 3 392 c.297A>G c.(295-297)AAA>AAG p.K99K CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Silent_p.K99K NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 99 Interaction with JUP and CTNNB1.|Involved in homodimerization. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ATGTTCGAAAACAAGGTAGGT 0.403 PSD2 84249 broad.mit.edu 37 5 139193918 139193918 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:139193918C>T uc003leu.1 + 4 1190 c.985C>T c.(985-987)CGC>TGC p.R329C NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 329 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTTCCAGCGCTGTGATGT 0.642 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139884482 139884482 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:139884482G>A uc003lfs.1 + 16 3205 c.3081G>A c.(3079-3081)TCG>TCA p.S1027S ANKHD1_uc003lfq.1_Silent_p.S1046S|ANKHD1_uc003lfr.2_Silent_p.S1027S|ANKHD1_uc003lft.1_Silent_p.S238S|ANKHD1_uc003lfu.1_Silent_p.S507S|ANKHD1_uc003lfv.1_Silent_p.S104S NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1027 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATCCTGTTCGCAGACTACAA 0.418 CD14 929 broad.mit.edu 37 5 140011637 140011637 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140011637C>A uc003lgi.1 - 2 1286 c.932G>T c.(931-933)AGG>ATG p.R311M CD14_uc003lgj.1_Missense_Mutation_p.R311M NM_000591 NP_000582 P08571 CD14_HUMAN CD14 antigen precursor 311 LRR 10. apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGGCGCCCTGTTCAGTCT 0.607 PCDHA4 56144 broad.mit.edu 37 5 140186806 140186806 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140186806C>T uc003lhi.2 + 1 135 c.34C>T c.(34-36)CGG>TGG p.R12W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R12W|PCDHA4_uc011daa.1_Missense_Mutation_p.R12W NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 12 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGAATCCCGGCGTCTGCT 0.512 PCDHA4 56144 broad.mit.edu 37 5 140188497 140188497 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140188497C>T uc003lhi.2 + 1 1826 c.1725C>T c.(1723-1725)GGC>GGT p.G575G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.G575G|PCDHA4_uc011daa.1_Silent_p.G575G NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 575 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACTGGTGGCGCAGTGAGCG 0.662 PCDHA6 56142 broad.mit.edu 37 5 140207942 140207942 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140207942G>A uc003lho.2 + 1 293 c.266G>A c.(265-267)CGG>CAG p.R89Q 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_Missense_Mutation_p.R89Q|PCDHA6_uc011dab.1_Missense_Mutation_p.R89Q NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 89 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAATTCTCGGATCGACCGC 0.607 PCDHA6 56142 broad.mit.edu 37 5 140208825 140208825 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140208825G>A uc003lho.2 + 1 1176 c.1149G>A c.(1147-1149)GGG>GGA p.G383G 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_Silent_p.G383G|PCDHA6_uc011dab.1_Silent_p.G383G NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 383 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCCAACGGGCAGGTGAACT 0.537 PCDHA7 56141 broad.mit.edu 37 5 140215089 140215089 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140215089T>C uc003lhq.2 + 1 1121 c.1121T>C c.(1120-1122)GTG>GCG p.V374A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.V374A NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 374 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGATTAGCGTGTTTGACCGA 0.498 PCDHA11 56138 broad.mit.edu 37 5 140248987 140248987 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140248987C>T uc003lia.2 + 1 1157 c.299C>T c.(298-300)GCG>GTG p.A100V 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_uc011dae.1_Missense_Mutation_p.A100V NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 100 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCAGAGCGCGGAGTGCAGC 0.562 PCDHA11 56138 broad.mit.edu 37 5 140249919 140249919 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140249919G>A uc003lia.2 + 1 2089 c.1231G>A c.(1231-1233)GCC>ACC p.A411T 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_uc011dae.1_Missense_Mutation_p.A411T NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 411 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGACAGCGCCCTGGACCG 0.617 PCDHAC1 56135 broad.mit.edu 37 5 140306856 140306856 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140306856G>A uc003lih.2 + 1 555 c.379G>A c.(379-381)GGC>AGC p.G127S 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.G127S NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 127 Cadherin 2.|Extracellular (Potential). 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) CTTTCCTGCCGGCGACGTGCA 0.587 PCDHAC2 56134 broad.mit.edu 37 5 140347356 140347356 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140347356G>A uc003lii.2 + 1 1245 c.1005G>A c.(1003-1005)GTG>GTA p.V335V 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_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.V335V NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 335 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATCTATGTGCAGGCGACTG 0.592 PCDHB5 26167 broad.mit.edu 37 5 140517107 140517107 + Silent SNP G G A rs61745780 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140517107G>A uc003liq.2 + 1 2308 c.2091G>A c.(2089-2091)TCG>TCA p.S697S NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 697 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCGGTGTCGTCGCTCTTCC 0.706 PCDHB6 56130 broad.mit.edu 37 5 140531423 140531423 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140531423G>A uc003lir.2 + 1 1585 c.1585G>A c.(1585-1587)GTG>ATG p.V529M PCDHB6_uc011dah.1_Missense_Mutation_p.V393M NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 529 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGTTCCGCGTGGGCGCCAC 0.662 PCDHB6 56130 broad.mit.edu 37 5 140531506 140531506 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140531506G>A uc003lir.2 + 1 1668 c.1668G>A c.(1666-1668)TCG>TCA p.S556S PCDHB6_uc011dah.1_Silent_p.S420S NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 556 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGACAACTCGCCCTTCGTGT 0.706 PCDHB8 56128 broad.mit.edu 37 5 140559225 140559225 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140559225G>A uc011dai.1 + 1 1796 c.1610G>A c.(1609-1611)CGC>CAC p.R537H PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 537 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) GCTTCAGACCGCGGCTCCCCG 0.662 PCDHB14 56122 broad.mit.edu 37 5 140605165 140605165 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140605165G>A uc003ljb.2 + 1 2088 c.2088G>A c.(2086-2088)TCG>TCA p.S696S PCDHB14_uc011dal.1_Silent_p.S543S NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 696 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATTGGCCTCGGTGTCGTCGC 0.711 PCDHGB2 56103 broad.mit.edu 37 5 140740782 140740782 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140740782G>A uc003ljs.1 + 1 1080 c.1080G>A c.(1078-1080)TCG>TCA p.S360S 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_uc011dar.1_Silent_p.S360S NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 360 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGAGGATTCGCCACCAGGAA 0.443 PCDHGA8 9708 broad.mit.edu 37 5 140772638 140772638 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140772638C>T uc003lkd.1 + 1 1156 c.258C>T c.(256-258)ACC>ACT p.T86T 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.T86T NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 86 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTGATCACCGCGGGCAGGA 0.587 PCDHGA10 56106 broad.mit.edu 37 5 140793360 140793360 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140793360C>T uc003lkl.1 + 1 618 c.618C>T c.(616-618)CGC>CGT p.R206R 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_uc011day.1_Silent_p.R206R NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 206 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) CCCTAGATCGCGAGGAAGAGG 0.582 PCDHGB7 56099 broad.mit.edu 37 5 140798770 140798770 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:140798770C>T uc003lkn.1 + 1 1489 c.1344C>T c.(1342-1344)AAC>AAT p.N448N 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.N448N|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 1 448 Extracellular (Potential).|Cadherin 4. 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) TCAATGACAACGCGCCGGTTT 0.572 HDAC3 8841 broad.mit.edu 37 5 141014481 141014481 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:141014481G>A uc003llf.2 - 3 244 c.178C>T c.(178-180)CGC>TGC p.R60C HDAC3_uc003lle.1_Missense_Mutation_p.R3C|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron|RELL2_uc003lli.2_5'Flank|RELL2_uc003llh.2_5'Flank|RELL2_uc003llg.2_5'Flank|RELL2_uc010jgf.2_5'Flank NM_003883 NP_003874 O15379 HDAC3_HUMAN histone deacetylase 3 60 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase 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)|transcription corepressor activity|transcription factor binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) GAGTGGAAGCGGCACATGTCA 0.552 ARAP3 64411 broad.mit.edu 37 5 141051787 141051787 + Silent SNP G G A rs149846650 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:141051787G>A uc003llm.2 - 10 1545 c.1467C>T c.(1465-1467)TAC>TAT p.Y489Y ARAP3_uc011dbe.1_Silent_p.Y151Y|ARAP3_uc003lln.2_Silent_p.Y411Y|ARAP3_uc003llo.1_Silent_p.Y489Y NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 489 Arf-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 CAGCCACCTCGTAGTCAGACA 0.632 SPRY4 81848 broad.mit.edu 37 5 141694062 141694062 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:141694062C>A uc003lml.2 - 2 871 c.612G>T c.(610-612)CAG>CAT p.Q204H SPRY4_uc010jgi.1_Missense_Mutation_p.Q227H NM_001127496 NP_001120968 Q9C004 SPY4_HUMAN sprouty homolog 4 isoform 2 204 Cys-rich.|SPR. multicellular organismal development cytoplasm|ruffle membrane protein binding ovary(1)|lung(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAGATGCCCTGCACCAAAC 0.622 Testicular_Cancer_Familial_Clustering_of DPYSL3 1809 broad.mit.edu 37 5 146781177 146781177 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:146781177C>T uc003lon.1 - 9 1004 c.894G>A c.(892-894)GCG>GCA p.A298A DPYSL3_uc003loo.2_Silent_p.A412A NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 298 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAATGCAGCCGCCTTGGCCC 0.562 FBXO38 81545 broad.mit.edu 37 5 147805103 147805103 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:147805103G>A uc003lpf.1 + 14 1877 c.1757G>A c.(1756-1758)CGT>CAT p.R586H FBXO38_uc003lpg.1_Missense_Mutation_p.R586H|FBXO38_uc003lph.2_Missense_Mutation_p.R586H NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 586 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCTTCAGCGTGTAGTAAAA 0.408 SH3TC2 79628 broad.mit.edu 37 5 148406585 148406585 + Nonsense_Mutation SNP G G A rs80338931 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:148406585G>A uc003lpu.2 - 11 2862 c.2710C>T c.(2710-2712)CGA>TGA p.R904* SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Nonsense_Mutation_p.R548*|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Nonsense_Mutation_p.R451*|SH3TC2_uc010jgx.2_Nonsense_Mutation_p.R897*|SH3TC2_uc003lpv.1_Nonsense_Mutation_p.R451*|SH3TC2_uc011dbz.1_Nonsense_Mutation_p.R789* NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 904 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATAGAGTCGTACAGCCTGC 0.517 ARHGEF37 389337 broad.mit.edu 37 5 149006814 149006814 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:149006814G>A uc003lra.1 + 11 1704 c.1640G>A c.(1639-1641)CGC>CAC p.R547H NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 547 SH3 1. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 AACAGCGGCCGCTGGCTGGTG 0.607 CSF1R 1436 broad.mit.edu 37 5 149453020 149453020 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:149453020A>G uc003lrl.2 - 6 1121 c.926T>C c.(925-927)CTC>CCC p.L309P CSF1R_uc011dcd.1_Missense_Mutation_p.L161P|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.L309P|CSF1R_uc011dce.1_Intron NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 309 Extracellular (Potential).|Ig-like C2-type 4. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CTCCTGGATGAGGTTCTGCTC 0.517 ARSI 340075 broad.mit.edu 37 5 149677808 149677808 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:149677808G>A uc003lrv.2 - 2 1268 c.679C>T c.(679-681)CGT>TGT p.R227C NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 227 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGAGGGGACGCTGAGGGCTG 0.632 GRIA1 2890 broad.mit.edu 37 5 152873596 152873596 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:152873596T>C uc003lva.3 + 2 556 c.191T>C c.(190-192)ATC>ACC p.I64T GRIA1_uc003luy.3_Missense_Mutation_p.I64T|GRIA1_uc003luz.3_5'UTR|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Missense_Mutation_p.I64T|GRIA1_uc011dcx.1_5'UTR|GRIA1_uc011dcy.1_Missense_Mutation_p.I74T|GRIA1_uc011dcz.1_Missense_Mutation_p.I74T|GRIA1_uc010jia.1_Missense_Mutation_p.I44T NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 64 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATTGTGAACATCAGCGACAGC 0.463 GRIA1 2890 broad.mit.edu 37 5 153085355 153085355 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:153085355G>A uc003lva.3 + 11 1916 c.1551G>A c.(1549-1551)ATG>ATA p.M517I GRIA1_uc003luy.3_Missense_Mutation_p.M517I|GRIA1_uc003luz.3_Missense_Mutation_p.M422I|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.M437I|GRIA1_uc011dcx.1_Missense_Mutation_p.M448I|GRIA1_uc011dcy.1_Missense_Mutation_p.M527I|GRIA1_uc011dcz.1_Missense_Mutation_p.M527I|GRIA1_uc010jia.1_Missense_Mutation_p.M497I NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 517 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCTCCATCATGATTAAAAAAC 0.428 GRIA1 2890 broad.mit.edu 37 5 153144175 153144175 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:153144175A>G uc003lva.3 + 12 2370 c.2005A>G c.(2005-2007)ACT>GCT p.T669A GRIA1_uc003luy.3_Missense_Mutation_p.T669A|GRIA1_uc003luz.3_Missense_Mutation_p.T574A|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.T589A|GRIA1_uc011dcx.1_Missense_Mutation_p.T600A|GRIA1_uc011dcy.1_Missense_Mutation_p.T679A|GRIA1_uc011dcz.1_Missense_Mutation_p.T679A NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 669 Glutamate binding (By similarity).|Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGCAGGATCTACTAAGGAGTT 0.493 KIF4B 285643 broad.mit.edu 37 5 154396385 154396385 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:154396385T>C uc010jih.1 + 1 3126 c.2966T>C c.(2965-2967)ATC>ACC p.I989T NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 989 Interaction with PRC1 (By similarity).|Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAGAATGAAATCATCAAGCAG 0.443 CLINT1 9685 broad.mit.edu 37 5 157214796 157214796 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:157214796A>G uc003lxj.1 - 12 1926 c.1736T>C c.(1735-1737)ATG>ACG p.M579T CLINT1_uc003lxg.1_Missense_Mutation_p.M116T|CLINT1_uc003lxh.1_Missense_Mutation_p.M153T|CLINT1_uc003lxi.1_Missense_Mutation_p.M579T|CLINT1_uc011ddv.1_Missense_Mutation_p.M597T NM_014666 NP_055481 Q14677 EPN4_HUMAN epsin 4 579 Met-rich. endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding ovary(2)|pancreas(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTTCATGTTCATGCCCATCAT 0.542 ODZ2 57451 broad.mit.edu 37 5 167674458 167674458 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:167674458A>G uc010jjd.2 + 27 6487 c.6487A>G c.(6487-6489)ATG>GTG p.M2163V ODZ2_uc003lzr.3_Missense_Mutation_p.M1933V|ODZ2_uc003lzt.3_Missense_Mutation_p.M1536V|ODZ2_uc010jje.2_Missense_Mutation_p.M1427V 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) CCGGTCCCTCATGTACTGGAT 0.522 RANBP17 64901 broad.mit.edu 37 5 170632540 170632540 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:170632540G>A uc003mba.2 + 20 2171 c.2155G>A c.(2155-2157)GGG>AGG p.G719R RANBP17_uc003mbb.2_Missense_Mutation_p.G44R|RANBP17_uc003mbd.2_Missense_Mutation_p.G82R|RANBP17_uc010jjs.2_RNA|RANBP17_uc003mbc.2_Missense_Mutation_p.G82R NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 719 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TATGTTGATCGGGCTGGCAAG 0.438 T TRD@ ALL UNC5A 90249 broad.mit.edu 37 5 176295907 176295907 + Silent SNP C C T rs144713374 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:176295907C>T uc003mey.2 + 5 855 c.663C>T c.(661-663)TGC>TGT p.C221C UNC5A_uc003mex.1_Silent_p.C221C|UNC5A_uc010jkg.1_Silent_p.C181C NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 221 Ig-like C2-type.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTACACCTGCGTGGCCAAGA 0.667 N4BP3 23138 broad.mit.edu 37 5 177548793 177548793 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:177548793C>T uc003mik.1 + 5 1673 c.1426C>T c.(1426-1428)CGA>TGA p.R476* N4BP3_uc003mil.1_Nonsense_Mutation_p.R145* NM_015111 NP_055926 O15049 N4BP3_HUMAN Nedd4 binding protein 3 476 Potential. cytoplasmic vesicle membrane 0 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTGCAGGAGCGACTTCGGGG 0.672 GRM6 2916 broad.mit.edu 37 5 178408747 178408747 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:178408747G>A uc003mjr.2 - 10 2724 c.2545C>T c.(2545-2547)CAG>TAG p.Q849* GRM6_uc003mjq.2_Nonsense_Mutation_p.Q252* NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 849 Cytoplasmic (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGCACATTCTGCTCTGGATGG 0.607 MAML1 9794 broad.mit.edu 37 5 179201712 179201712 + Missense_Mutation SNP C C A rs142452741 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:179201712C>A uc003mkm.2 + 5 3148 c.2885C>A c.(2884-2886)CCT>CAT p.P962H MAML1_uc003mkn.1_Intron NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 962 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGGCCTACCCTGTGCGGACC 0.687 CNOT6 57472 broad.mit.edu 37 5 179991555 179991555 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:179991555A>G uc003mlx.2 + 5 801 c.452A>G c.(451-453)AAC>AGC p.N151S CNOT6_uc010jld.2_Missense_Mutation_p.N151S|CNOT6_uc010jle.2_Missense_Mutation_p.N151S NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 151 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding 0 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CGGCTGCTGAACTATTTGCTT 0.328 EXOC2 55770 broad.mit.edu 37 6 599181 599181 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:599181G>A uc003mtd.2 - 8 921 c.787C>T c.(787-789)CGG>TGG p.R263W EXOC2_uc003mte.2_Missense_Mutation_p.R263W|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 263 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TTGTCTTTCCGACCTAATACT 0.338 PRPF4B 8899 broad.mit.edu 37 6 4037685 4037685 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:4037685C>T uc003mvv.2 + 3 1384 c.1293C>T c.(1291-1293)AGC>AGT p.S431S PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 431 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) AAGATGCCAGCCCCATCAATA 0.428 PECI 10455 broad.mit.edu 37 6 4117629 4117629 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:4117629T>C uc003mwf.2 - 9 979 c.942A>G c.(940-942)CAA>CAG p.Q314Q C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.3_Intron|PECI_uc003mwc.2_Silent_p.Q147Q|PECI_uc003mwd.2_Silent_p.Q284Q|PECI_uc003mwe.2_Silent_p.Q161Q|PECI_uc010jnr.1_RNA NM_206836 NP_996667 O75521 ECI2_HUMAN peroxisomal D3,D2-enoyl-CoA isomerase isoform 2 314 ECH-like. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) TAACAAGTCCTTGAGCACATG 0.403 CDYL 9425 broad.mit.edu 37 6 4892486 4892486 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:4892486A>G uc003mwi.2 + 4 857 c.726A>G c.(724-726)GGA>GGG p.G242G CDYL_uc003mwj.2_Silent_p.G188G|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Silent_p.G56G|CDYL_uc011dhy.1_Silent_p.G56G NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 242 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) AGCCGGTCGGAGCTTTATTGG 0.652 MAK 4117 broad.mit.edu 37 6 10796519 10796519 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:10796519T>G uc003mzl.2 - 8 1084 c.855A>C c.(853-855)CAA>CAC p.Q285H SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.Q285H|MAK_uc010jov.1_RNA NM_005906 NP_005897 P20794 MAK_HUMAN male germ cell-associated kinase 285 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|skin(1) 3 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) CCTGACCAACTTGAAAATATG 0.373 SIRT5 23408 broad.mit.edu 37 6 13584404 13584404 + Missense_Mutation SNP C C A rs113600137 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:13584404C>A uc003nay.2 + 3 358 c.62C>A c.(61-63)CCT>CAT p.P21H SIRT5_uc003naw.2_Missense_Mutation_p.P21H|SIRT5_uc003nax.2_5'UTR|SIRT5_uc011dit.1_Missense_Mutation_p.P21H NM_012241 NP_036373 Q9NXA8 SIRT5_HUMAN sirtuin 5 isoform 1 21 chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding skin(2)|upper_aerodigestive_tract(1) 3 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) GGCCTGAAGCCTCCAGCGTCC 0.488 JARID2 3720 broad.mit.edu 37 6 15496926 15496926 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:15496926G>A uc003nbj.2 + 7 1714 c.1470G>A c.(1468-1470)CCG>CCA p.P490P JARID2_uc011diu.1_Silent_p.P354P|JARID2_uc011div.1_Silent_p.P318P|JARID2_uc011diw.1_Silent_p.P452P NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 490 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) AGGAAGTGCCGGAGCGCAGTC 0.657 LRRC16A 55604 broad.mit.edu 37 6 25515955 25515955 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:25515955T>C uc011djw.1 + 21 2061 c.1685T>C c.(1684-1686)ATC>ACC p.I562T LRRC16A_uc010jpx.2_Missense_Mutation_p.I562T|LRRC16A_uc010jpy.2_Missense_Mutation_p.I562T NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 562 LRR 8. actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 GAGGTCACCATCATCATCAAT 0.552 SLC17A2 10246 broad.mit.edu 37 6 25921412 25921412 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:25921412C>T uc011dkb.1 - 3 552 c.469G>A c.(469-471)GCC>ACC p.A157T SLC17A2_uc011dkc.1_Missense_Mutation_p.A157T|SLC17A2_uc003nfl.2_Missense_Mutation_p.A157T O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 157 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 GATACCTGGGCCATGCCCTGG 0.448 BTN3A3 10384 broad.mit.edu 37 6 26452153 26452153 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:26452153C>T uc003nhz.2 + 11 1449 c.1269C>T c.(1267-1269)GTC>GTT p.V423V BTN3A3_uc003nia.2_Silent_p.V381V|BTN3A3_uc011dkn.1_Silent_p.V374V NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 423 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane 0 AAGGTTGGGTCAAAATGACAC 0.498 SCAND3 114821 broad.mit.edu 37 6 28547153 28547153 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:28547153A>G uc003nlo.2 - 2 1082 c.464T>C c.(463-465)ATG>ACG p.M155T NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 155 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 CAGAGGGATCATTTCTTCCAT 0.433 ZNF311 282890 broad.mit.edu 37 6 28964030 28964030 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:28964030G>A uc003nlu.2 - 7 1262 c.749C>T c.(748-750)GCC>GTC p.A250V ZNF311_uc011dlk.1_Missense_Mutation_p.A158V|ZNF311_uc003nlv.2_Missense_Mutation_p.A158V NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 250 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 GCCACACCTGGCACATTCATG 0.383 TRIM26 7726 broad.mit.edu 37 6 30166679 30166679 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:30166679C>T uc003npr.2 - 3 411 c.202G>A c.(202-204)GTG>ATG p.V68M TRIM26_uc003nps.2_Missense_Mutation_p.V68M|TRIM26_uc010jry.2_Translation_Start_Site|TRIM26_uc003npt.2_Missense_Mutation_p.V68M|TRIM26_uc003npu.1_Missense_Mutation_p.V68M NM_003449 NP_003440 Q12899 TRI26_HUMAN tripartite motif-containing 26 68 DNA binding|zinc ion binding ovary(2)|lung(1) 3 AGTTGCCACACGGGTCGGATG 0.622 PPP1R10 5514 broad.mit.edu 37 6 30571948 30571948 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:30571948G>A uc003nqn.1 - 14 1897 c.1345C>T c.(1345-1347)CGT>TGT p.R449C PPP1R10_uc010jsc.1_Missense_Mutation_p.R103C NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 449 Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 TGGCTCAGACGCCGCGCTGTC 0.557 MDC1 9656 broad.mit.edu 37 6 30673671 30673671 + Nonsense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:30673671C>A uc003nrg.3 - 10 3729 c.3289G>T c.(3289-3291)GAG>TAG p.E1097* MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Nonsense_Mutation_p.E704* NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1097 Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GGCTCCAGCTCTGAGGACAAG 0.547 Other_conserved_DNA_damage_response_genes POU5F1 5460 broad.mit.edu 37 6 31133735 31133735 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:31133735G>A uc003nsv.2 - 2 549 c.495C>T c.(493-495)GCC>GCT p.A165A POU5F1_uc003nsu.2_Silent_p.A70A|uc011dnf.1_RNA NM_002701 NP_002692 Q01860 PO5F1_HUMAN POU domain, class 5, transcription factor 1 165 POU-specific. anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) skin(7)|salivary_gland(2)|bone(2)|lung(1)|ovary(1) 13 GCCCCACATCGGCCTGTGTAT 0.532 T EWSR1 sarcoma HLA-B 3106 broad.mit.edu 37 6 31322412 31322412 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:31322412G>A uc003nth.2 - 6 1097 c.1043C>T c.(1042-1044)GCG>GTG p.A348V HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.A227V|HLA-B_uc003nti.1_RNA NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 348 Cytoplasmic (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 CCACTTACACGCAGCCTGAGA 0.572 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of AIF1 199 broad.mit.edu 37 6 31583458 31583458 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:31583458C>T uc003nuy.2 + 3 173 c.99C>T c.(97-99)GAC>GAT p.D33D AIF1_uc010jsy.2_Translation_Start_Site|AIF1_uc003nva.2_5'Flank NM_001623 NP_001614 P55008 AIF1_HUMAN allograft inflammatory factor 1 isoform 3 33 D -> H (in Ref. 2; AAA92457). actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation nucleus|ruffle membrane actin filament binding|calcium ion binding ovary(1) 1 AATTCCTAGACGATCCCAAAT 0.562 C2 717 broad.mit.edu 37 6 31868916 31868916 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:31868916G>T uc011dop.1 + 1 141 c.73G>T c.(73-75)GCT>TCT p.A25S C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|ZBTB12_uc003nyd.1_Missense_Mutation_p.P56H NM_001145903 NP_001139375 P06681 CO2_HUMAN complement component 2 isoform 2 preproprotein 148 complement activation, classical pathway|innate immune response|proteolysis extracellular space serine-type endopeptidase activity ovary(1)|skin(1) 2 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) CCGCAGGAAGGGTGAGCAGGC 0.622 TNXB 7148 broad.mit.edu 37 6 32011609 32011609 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:32011609A>T uc003nzl.2 - 35 11643 c.11441T>A c.(11440-11442)ATC>AAC p.I3814N TNXB_uc003nzg.1_Missense_Mutation_p.I245N|TNXB_uc003nzh.1_Missense_Mutation_p.I283N NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3861 Fibronectin type-III 30. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 AGCGCCTGGGATCAGCCCCTG 0.622 PRRT1 80863 broad.mit.edu 37 6 32117369 32117369 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:32117369G>A uc003nzt.2 - 3 805 c.689C>T c.(688-690)ACC>ATC p.T230I PRRT1_uc003nzs.2_Missense_Mutation_p.T271I|PRRT1_uc003nzu.2_Silent_p.D122D NM_030651 NP_085154 Q99946 PRRT1_HUMAN NG5 protein 230 Helical; (Potential). response to biotic stimulus integral to membrane breast(1) 1 ACAGATGGTGGTCAGCACCGC 0.672 EGFL8 80864 broad.mit.edu 37 6 32134513 32134513 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:32134513G>A uc003oab.1 + 4 318 c.260G>A c.(259-261)CGG>CAG p.R87Q PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.R87Q NM_030652 NP_085155 Q99944 EGFL8_HUMAN NG3 protein precursor 87 EMI. extracellular region|integral to membrane calcium ion binding 0 GAGGTGAGGCGGGAGGTTCAG 0.652 IP6K3 117283 broad.mit.edu 37 6 33693227 33693227 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:33693227G>A uc010jvf.2 - 6 1292 c.756C>T c.(754-756)TGC>TGT p.C252C IP6K3_uc003ofb.2_Silent_p.C252C NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 252 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 CCTGCATGCCGCAGATGCGCA 0.667 IP6K3 117283 broad.mit.edu 37 6 33703227 33703227 + Silent SNP G G A rs150212654 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:33703227G>A uc010jvf.2 - 3 563 c.27C>T c.(25-27)GCC>GCT p.A9A IP6K3_uc003ofb.2_Silent_p.A9A NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 9 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 TCATGTCCCCGGCGTCTGCGC 0.617 LHFPL5 222662 broad.mit.edu 37 6 35773664 35773664 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:35773664C>A uc003olg.1 + 1 594 c.217C>A c.(217-219)CTG>ATG p.L73M NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 73 Helical; (Potential). integral to membrane skin(1) 1 GGGTAACGTGCTGTCCTCCGA 0.587 BRPF3 27154 broad.mit.edu 37 6 36198280 36198280 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:36198280G>A uc003olv.3 + 13 3736 c.3512G>A c.(3511-3513)CGC>CAC p.R1171H BRPF3_uc010jwb.2_Missense_Mutation_p.R901H|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.R837H|BRPF3_uc010jwd.2_Missense_Mutation_p.R73H NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1171 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 CTGGAAGGCCGCAAGACCAGC 0.582 ZFAND3 60685 broad.mit.edu 37 6 38120049 38120049 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:38120049C>T uc003onx.2 + 6 983 c.568C>T c.(568-570)CAC>TAC p.H190Y NM_021943 NP_068762 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 190 AN1-type. DNA binding|zinc ion binding ovary(1) 1 CCCCGAGCAGCACGACTGCAC 0.597 KCNK5 8645 broad.mit.edu 37 6 39159505 39159505 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:39159505C>T uc003oon.2 - 5 1025 c.661G>A c.(661-663)GCC>ACC p.A221T NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 221 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CGGTACAGGGCGTGGTAGTTG 0.567 KIF6 221458 broad.mit.edu 37 6 39693056 39693056 + Silent SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:39693056T>G uc003oot.2 - 1 126 c.31A>C c.(31-33)AGG>CGG p.R11R KIF6_uc011dua.1_Silent_p.R11R|KIF6_uc010jxb.1_Silent_p.R11R NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 11 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 GGCTTCACCCTCGCGAATATC 0.552 CUL7 9820 broad.mit.edu 37 6 43017887 43017887 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:43017887G>A uc003otq.2 - 6 1686 c.1383C>T c.(1381-1383)GCC>GCT p.A461A CUL7_uc011dvb.1_Silent_p.A545A|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 461 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) TCCAGCGCCAGGCAGGCAGGG 0.577 CUL9 23113 broad.mit.edu 37 6 43181612 43181612 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:43181612G>A uc003ouk.2 + 29 5725 c.5650G>A c.(5650-5652)GGG>AGG p.G1884R CUL9_uc003oul.2_Missense_Mutation_p.G1856R|CUL9_uc010jyk.2_Missense_Mutation_p.G1036R|CUL9_uc003oun.2_5'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1884 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CAAAGCCCATGGGGAAAAGGG 0.532 RUNX2 860 broad.mit.edu 37 6 45390650 45390650 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:45390650C>A uc011dvx.1 + 3 589 c.379C>A c.(379-381)CCC>ACC p.P127T RUNX2_uc011dvy.1_Missense_Mutation_p.P127T|RUNX2_uc003oxt.2_Missense_Mutation_p.P113T NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 127 Runt. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 CTCGGTGCTGCCCTCGCACTG 0.572 TFAP2D 83741 broad.mit.edu 37 6 50696582 50696582 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:50696582G>A uc003paf.2 + 4 1124 c.612G>A c.(610-612)GTG>GTA p.V204V TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 204 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) GCACCTGTGTGGTCAACCCCA 0.443 DST 667 broad.mit.edu 37 6 56382399 56382399 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:56382399G>A uc003pdf.2 - 64 11820 c.11792C>T c.(11791-11793)GCT>GTT p.A3931V DST_uc003pcz.3_Missense_Mutation_p.A3753V|DST_uc011dxj.1_Missense_Mutation_p.A3782V|DST_uc011dxk.1_Missense_Mutation_p.A3793V|DST_uc003pcy.3_Missense_Mutation_p.A3427V NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5839 Spectrin 10. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GGATAACTCAGCATCAGCTGC 0.393 KHDRBS2 202559 broad.mit.edu 37 6 62887178 62887178 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:62887178T>A uc003peg.2 - 2 378 c.131A>T c.(130-132)GAC>GTC p.D44V NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 44 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) CTTTTCTTCGTCTTCCTTTTT 0.338 COL9A1 1297 broad.mit.edu 37 6 71004218 71004218 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:71004218C>T uc003pfg.3 - 5 507 c.348G>A c.(346-348)ACG>ACA p.T116T NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 116 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 TCATTCGAAACGTCGTCAAGA 0.393 RNGTT 8732 broad.mit.edu 37 6 89614482 89614482 + Silent SNP G G A rs144619191 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:89614482G>A uc003pmr.2 - 6 856 c.636C>T c.(634-636)CCC>CCT p.P212P RNGTT_uc003pms.2_Silent_p.P212P|RNGTT_uc011dzu.1_Silent_p.P152P|RNGTT_uc003pmt.2_Silent_p.P212P NM_003800 NP_003791 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 212 TPase. P -> T (in Ref. 6; AAH19954). interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) CACTTGACCCGGGTTCTGATT 0.393 BACH2 60468 broad.mit.edu 37 6 90661494 90661494 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:90661494G>A uc011eab.1 - 7 1140 c.331C>T c.(331-333)CGC>TGC p.R111C BACH2_uc003pnw.2_Missense_Mutation_p.R111C|BACH2_uc010kch.2_Missense_Mutation_p.R111C NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 111 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TCAGCACAGCGGATGACCTCG 0.562 SIM1 6492 broad.mit.edu 37 6 100838484 100838484 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:100838484T>C uc003pqj.3 - 11 2261 c.2054A>G c.(2053-2055)CAT>CGT p.H685R SIM1_uc010kcu.2_Missense_Mutation_p.H685R NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 685 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) TGCTGTCTGATGAGGAGATAT 0.463 HACE1 57531 broad.mit.edu 37 6 105198303 105198303 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:105198303G>T uc003pqu.1 - 20 2533 c.2256C>A c.(2254-2256)GCC>GCA p.A752A HACE1_uc010kcy.1_Silent_p.A234A|HACE1_uc010kcz.1_Silent_p.A537A|HACE1_uc010kcx.1_Silent_p.A161A|HACE1_uc003pqt.1_Silent_p.A405A NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 752 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) GAGGCTGAATGGCTCTTGTCA 0.373 SEC63 11231 broad.mit.edu 37 6 108222672 108222672 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:108222672C>T uc003psc.3 - 13 1528 c.1259G>A c.(1258-1260)CGT>CAT p.R420H SEC63_uc003psb.3_Missense_Mutation_p.R280H NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN SEC63-like protein 420 SEC63 1.|Cytoplasmic (Potential). protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding ovary(1)|skin(1) 2 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TAGAGTGTGACGATCTGATTC 0.328 FOXO3 2309 broad.mit.edu 37 6 108985139 108985139 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:108985139G>A uc003psk.2 + 3 1419 c.1103G>A c.(1102-1104)CGG>CAG p.R368Q FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.R368Q|FOXO3_uc011ean.1_Missense_Mutation_p.R148Q|FOXO3_uc010kdj.1_Missense_Mutation_p.R148Q NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 368 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GAACTGCCACGGCTGACTGAT 0.572 ARMC2 84071 broad.mit.edu 37 6 109294701 109294701 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:109294701C>A uc003pss.3 + 18 2762 c.2588C>A c.(2587-2589)CCC>CAC p.P863H ARMC2_uc011eao.1_Missense_Mutation_p.P698H NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 863 binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) GAACCCCTGCCCATTCCCTCT 0.418 GJA1 2697 broad.mit.edu 37 6 121768103 121768103 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:121768103T>C uc003pyr.2 + 2 360 c.110T>C c.(109-111)CTG>CCG p.L37P GJA1_uc011ebo.1_Intron|GJA1_uc011ebp.1_5'UTR NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 37 Extracellular (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) ATCCTGCTGCTGGGGACAGCG 0.507 PTPRK 5796 broad.mit.edu 37 6 128316642 128316642 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:128316642G>A uc003qbk.2 - 18 3173 c.2806C>T c.(2806-2808)CCT>TCT p.P936S PTPRK_uc003qbj.2_Missense_Mutation_p.P937S|PTPRK_uc010kfc.2_Missense_Mutation_p.P937S|PTPRK_uc011ebu.1_Missense_Mutation_p.P953S NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 936 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TCTGAGGAAGGATCATCCTCT 0.294 LAMA2 3908 broad.mit.edu 37 6 129419458 129419458 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:129419458T>C uc003qbn.2 + 4 642 c.537T>C c.(535-537)CTT>CTC p.L179L LAMA2_uc003qbo.2_Silent_p.L179L NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 179 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCCTAACGCTTTACAATATTT 0.483 LAMA2 3908 broad.mit.edu 37 6 129813110 129813110 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:129813110A>G uc003qbn.2 + 56 8068 c.7963A>G c.(7963-7965)ATC>GTC p.I2655V LAMA2_uc003qbo.2_Missense_Mutation_p.I2651V|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2655 Laminin G-like 3. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGAACAGCCTATCGAAGTTAA 0.373 MAP3K5 4217 broad.mit.edu 37 6 136913687 136913687 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:136913687A>G uc003qhc.2 - 22 3305 c.2944T>C c.(2944-2946)TAC>CAC p.Y982H MAP3K5_uc011edj.1_Missense_Mutation_p.Y229H|MAP3K5_uc011edk.1_Missense_Mutation_p.Y828H NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 982 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) ACTGAGCCGTACTCACTGCTG 0.502 IL20RA 53832 broad.mit.edu 37 6 137329811 137329811 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:137329811G>A uc003qhj.2 - 5 1082 c.649C>T c.(649-651)CAC>TAC p.H217Y IL20RA_uc011edl.1_Missense_Mutation_p.H168Y|IL20RA_uc003qhk.2_Missense_Mutation_p.H106Y|IL20RA_uc003qhi.2_5'UTR NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha precursor 217 Extracellular (Potential).|Fibronectin type-III 2. integral to membrane receptor activity ovary(2)|skin(2) 4 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GACTCCACGTGTACGCAGTAA 0.532 TNFAIP3 7128 broad.mit.edu 37 6 138201244 138201244 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:138201244C>T uc003qhr.2 + 8 2009 c.1943C>T c.(1942-1944)GCG>GTG p.A648V TNFAIP3_uc003qhs.2_Missense_Mutation_p.A648V NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 648 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) AGTCCCACAGCGTCCAGGTTC 0.517 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma FBXO30 84085 broad.mit.edu 37 6 146126057 146126057 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:146126057C>T uc003qla.2 - 2 1684 c.1485G>A c.(1483-1485)CCG>CCA p.P495P uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 495 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) GTGTCTGAAACGGACTTGGAT 0.433 GRM1 2911 broad.mit.edu 37 6 146480484 146480484 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:146480484G>T uc010khw.1 + 3 1171 c.701G>T c.(700-702)GGG>GTG p.G234V GRM1_uc010khu.1_Missense_Mutation_p.G234V|GRM1_uc010khv.1_Missense_Mutation_p.G234V|GRM1_uc003qll.2_Missense_Mutation_p.G234V|GRM1_uc011edz.1_Missense_Mutation_p.G234V|GRM1_uc011eea.1_Missense_Mutation_p.G234V NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 234 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTCTGGACAGGGAATTATGGG 0.478 C6orf97 80129 broad.mit.edu 37 6 151857487 151857487 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:151857487C>T uc003qol.2 + 2 181 c.92C>T c.(91-93)ACG>ATG p.T31M NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 31 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) GTCCCGGTCACGCGGGAGCAG 0.433 SYNE1 23345 broad.mit.edu 37 6 152776602 152776602 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:152776602C>T uc010kiw.2 - 24 3453 c.2851G>A c.(2851-2853)GAG>AAG p.E951K SYNE1_uc003qot.3_Missense_Mutation_p.E958K|SYNE1_uc003qou.3_Missense_Mutation_p.E951K|SYNE1_uc010kjb.1_Missense_Mutation_p.E934K|SYNE1_uc003qow.2_Missense_Mutation_p.E246K|SYNE1_uc003qox.1_Missense_Mutation_p.E467K|SYNE1_uc003qoz.2_Missense_Mutation_p.E383K|SYNE1_uc003qoy.2_Missense_Mutation_p.E518K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 951 Potential.|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) CCCTTTTCCTCCAGGCCCTCC 0.522 HNSCC(10;0.0054) TIAM2 26230 broad.mit.edu 37 6 155577810 155577810 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:155577810T>C uc003qqb.2 + 29 5934 c.4661T>C c.(4660-4662)TTG>TCG p.L1554S TIAM2_uc003qqe.2_Missense_Mutation_p.L1554S|TIAM2_uc010kjj.2_Missense_Mutation_p.L1116S|TIAM2_uc003qqf.2_Missense_Mutation_p.L930S|TIAM2_uc011efl.1_Missense_Mutation_p.L898S|TIAM2_uc003qqg.2_Missense_Mutation_p.L866S|TIAM2_uc003qqh.2_Missense_Mutation_p.L479S|uc003qqi.1_RNA NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1554 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CACCCCGGCTTGGCAGATTTT 0.587 TFB1M 51106 broad.mit.edu 37 6 155581523 155581523 + Silent SNP G G A rs149796947 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:155581523G>A uc003qqj.3 - 6 742 c.678C>T c.(676-678)GGC>GGT p.G226G TFB1M_uc003qqk.2_Intron NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 226 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) AGTGCACCACGCCCACGTCCA 0.438 ARID1B 57492 broad.mit.edu 37 6 157522620 157522620 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:157522620T>A uc003qqn.2 + 18 4990 c.4838T>A c.(4837-4839)ATC>AAC p.I1613N ARID1B_uc003qqo.2_Missense_Mutation_p.I1573N|ARID1B_uc003qqp.2_Missense_Mutation_p.I1560N NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1618 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TCCAAAGATATCGGTAAGAAT 0.408 SYNJ2 8871 broad.mit.edu 37 6 158499313 158499313 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:158499313G>T uc003qqx.1 + 18 2642 c.2567G>T c.(2566-2568)AGA>ATA p.R856I SYNJ2_uc003qqw.1_Missense_Mutation_p.R856I|SYNJ2_uc003qqy.1_Missense_Mutation_p.R569I|SYNJ2_uc003qqz.1_Missense_Mutation_p.R473I|SYNJ2_uc003qra.1_Missense_Mutation_p.R199I NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 856 Catalytic (By similarity). nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TCTGATCACAGGTGAGGTCCT 0.542 SYNJ2 8871 broad.mit.edu 37 6 158509770 158509770 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:158509770C>T uc003qqx.1 + 24 3497 c.3422C>T c.(3421-3423)ACG>ATG p.T1141M SYNJ2_uc003qqw.1_Missense_Mutation_p.T1141M|SYNJ2_uc003qqy.1_Missense_Mutation_p.T854M|SYNJ2_uc003qqz.1_Missense_Mutation_p.T758M|SYNJ2_uc003qra.1_Missense_Mutation_p.T484M|SYNJ2_uc010kjp.1_Missense_Mutation_p.T24M NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 1141 Catalytic (By similarity). nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ATTTTGCAGACGGCAAGACTT 0.502 TULP4 56995 broad.mit.edu 37 6 158834150 158834150 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:158834150G>A uc003qrf.2 + 2 1663 c.306G>A c.(304-306)GCG>GCA p.A102A TULP4_uc011efo.1_Silent_p.A102A|TULP4_uc003qrg.2_Silent_p.A102A NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 102 WD 1. 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) CGTGCGATGCGGACGGAGGCA 0.567 FNDC1 84624 broad.mit.edu 37 6 159654471 159654471 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:159654471C>T uc010kjv.2 + 11 3127 c.2927C>T c.(2926-2928)GCG>GTG p.A976V FNDC1_uc010kjw.1_Missense_Mutation_p.A861V NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 976 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GACCGCCACGCGTCCCCTGCT 0.662 PLG 5340 broad.mit.edu 37 6 161135861 161135861 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:161135861G>T uc003qtm.3 + 6 646 c.583G>T c.(583-585)GGC>TGC p.G195C NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 195 Kringle 2. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AAACTATGACGGCAAAATTTC 0.473 PLG 5340 broad.mit.edu 37 6 161139823 161139823 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:161139823C>T uc003qtm.3 + 9 1112 c.1049C>T c.(1048-1050)CCG>CTG p.P350L NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 350 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TGTAAGATACCGTCCTGTGAC 0.502 CCR6 1235 broad.mit.edu 37 6 167549868 167549868 + Silent SNP G G A rs145186145 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:167549868G>A uc003qvl.2 + 13 2626 c.150G>A c.(148-150)CCG>CCA p.P50P CCR6_uc010kkm.2_Silent_p.P50P|CCR6_uc003qvn.3_Silent_p.P50P|CCR6_uc003qvm.3_Silent_p.P50P NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 50 Helical; Name=1; (Potential). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) TATTTGTACCGATTGCCTACT 0.438 GPER 2852 broad.mit.edu 37 7 1132152 1132152 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:1132152C>T uc010ksd.1 + 2 1177 c.788C>T c.(787-789)GCG>GTG p.A263V C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A263V|GPER_uc003ska.1_Missense_Mutation_p.A263V|GPER_uc003skb.2_Missense_Mutation_p.A263V NM_001098201 NP_001091671 Q99527 GPER_HUMAN G protein-coupled receptor 30 263 Helical; Name=6; (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) ATGATCCTCGCGGTGGTGCTG 0.687 MICALL2 79778 broad.mit.edu 37 7 1484922 1484922 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:1484922C>T uc003skj.3 - 6 931 c.784G>A c.(784-786)GCC>ACC p.A262T MICALL2_uc003ski.3_5'Flank NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 262 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) ACACCCATGGCCCCTGGCTGT 0.687 TMEM184A 202915 broad.mit.edu 37 7 1588314 1588314 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:1588314C>T uc003skv.3 - 7 972 c.655G>A c.(655-657)GGC>AGC p.G219S TMEM184A_uc003skt.3_Missense_Mutation_p.G198S|TMEM184A_uc003skw.3_Missense_Mutation_p.G24S NM_001097620 NP_001091089 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 219 integral to membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) TAGAGGTAGCCGCTGCGGACA 0.657 EIF3B 8662 broad.mit.edu 37 7 2402723 2402723 + Missense_Mutation SNP C C G rs145413649 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:2402723C>G uc003slx.2 + 4 914 c.831C>G c.(829-831)GAC>GAG p.D277E EIF3B_uc003sly.2_Missense_Mutation_p.D277E|EIF3B_uc003slz.1_Missense_Mutation_p.D238E|EIF3B_uc003sma.2_Missense_Mutation_p.D5E NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 277 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CGATCAGTGACGAGTGGGATA 0.473 TTYH3 80727 broad.mit.edu 37 7 2687619 2687619 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:2687619T>C uc003smp.2 + 5 840 c.653T>C c.(652-654)CTG>CCG p.L218P TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.L47P NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 218 Helical; Name=3; (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GGCCTGCTGCTGCTGGACGTC 0.706 SLC29A4 222962 broad.mit.edu 37 7 5330864 5330864 + Silent SNP C C T rs145785340 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:5330864C>T uc003sod.2 + 4 572 c.411C>T c.(409-411)ACC>ACT p.T137T SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.T137T|SLC29A4_uc003soe.2_Silent_p.T137T NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 137 Extracellular (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) CCAGGATCACCGCAGGTGCGC 0.423 KDELR2 11014 broad.mit.edu 37 7 6505847 6505847 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:6505847G>A uc003sqe.3 - 4 620 c.459C>T c.(457-459)TTC>TTT p.F153F DAGLB_uc003sqd.3_Intron|KDELR2_uc003sqf.3_Intron NM_006854 NP_006845 P33947 ERD22_HUMAN KDEL receptor 2 isoform 1 153 Helical; (Potential). intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|Golgi apparatus|integral to membrane KDEL sequence binding|protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) GGCCCAGGAAGAACAGGTAGT 0.542 TMEM106B 54664 broad.mit.edu 37 7 12263969 12263969 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:12263969C>T uc011jxk.1 + 5 799 c.399C>T c.(397-399)GTC>GTT p.V133V TMEM106B_uc003ssh.2_Silent_p.V133V NM_018374 NP_060844 Q9NUM4 T106B_HUMAN transmembrane protein 106B 133 integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) CAGCCTATGTCAGTTATGATG 0.338 SNX13 23161 broad.mit.edu 37 7 17908067 17908067 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:17908067C>T uc003stw.1 - 9 1013 c.800G>A c.(799-801)AGT>AAT p.S267N SNX13_uc003stv.2_Missense_Mutation_p.S267N|SNX13_uc010kuc.2_Missense_Mutation_p.S64N|SNX13_uc003stx.1_Missense_Mutation_p.S187N Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 267 PXA. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) ATCAGGATCACTGAGTTGATT 0.264 TWIST1 7291 broad.mit.edu 37 7 19156576 19156576 + Silent SNP C C T rs144664279 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:19156576C>T uc003sum.2 - 1 720 c.369G>A c.(367-369)TCG>TCA p.S123S NM_000474 NP_000465 Q15672 TWST1_HUMAN twist 123 Helix-loop-helix motif. aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 CCTCGTTCAGCGACTGGGTGC 0.572 Saethre-Chotzen_syndrome ABCB5 340273 broad.mit.edu 37 7 20785017 20785017 + Missense_Mutation SNP G G A rs146066744 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:20785017G>A uc003suw.3 + 17 2596 c.2050G>A c.(2050-2052)GCA>ACA p.A684T ABCB5_uc010kuh.2_Missense_Mutation_p.A1129T NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 684 Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CAAAGAAGCCGCAAATGCAGC 0.433 CDCA7L 55536 broad.mit.edu 37 7 21946056 21946056 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:21946056G>A uc010kuk.2 - 6 892 c.772C>T c.(772-774)CGG>TGG p.R258W CDCA7L_uc003sve.3_Missense_Mutation_p.R224W|CDCA7L_uc010kul.2_Missense_Mutation_p.R212W|CDCA7L_uc003svf.3_Missense_Mutation_p.R257W NM_018719 NP_061189 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like isoform 1 258 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus 0 GAGAAGGCCCGCCTCACTGTC 0.542 RAPGEF5 9771 broad.mit.edu 37 7 22197498 22197498 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:22197498A>G uc003svg.2 - 15 1386 c.1073T>C c.(1072-1074)GTA>GCA p.V358A RAPGEF5_uc011jyl.1_Missense_Mutation_p.V39A NM_012294 NP_036426 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 208 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity ovary(1) 1 ATATTCATCTACAGTGCTGAA 0.418 FAM126A 84668 broad.mit.edu 37 7 23018028 23018028 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:23018028G>A uc003svm.3 - 4 448 c.193C>T c.(193-195)CGC>TGC p.R65C FAM126A_uc003svn.3_5'UTR|FAM126A_uc011jyr.1_Missense_Mutation_p.R31C NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 65 cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 TCTCCACTGCGATAGAATTCA 0.413 NOD1 10392 broad.mit.edu 37 7 30465314 30465314 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:30465314G>A uc003tav.2 - 14 3325 c.2802C>T c.(2800-2802)AAC>AAT p.N934N NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 934 LRR 9. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 GTTTTATCAGGTTTCCATTTA 0.453 BBS9 27241 broad.mit.edu 37 7 33195315 33195315 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:33195315G>A uc003tdn.1 + 4 841 c.328_splice c.e4+1 p.G110_splice BBS9_uc003tdo.1_Splice_Site_p.G110_splice|BBS9_uc003tdp.1_Splice_Site_p.G110_splice|BBS9_uc003tdq.1_Splice_Site_p.G110_splice|BBS9_uc010kwn.1_Splice_Site|BBS9_uc011kan.1_Splice_Site_p.G110_splice|BBS9_uc011kao.1_5'Flank NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) TCTGTCTCAGGTAAGAAATAT 0.318 Bardet-Biedl_syndrome C7orf10 79783 broad.mit.edu 37 7 40899966 40899966 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:40899966C>T uc003thn.1 + 14 1250 c.1205C>T c.(1204-1206)CCG>CTG p.P402L C7orf10_uc003thm.1_Missense_Mutation_p.P398L|C7orf10_uc003tho.1_Missense_Mutation_p.P354L|C7orf10_uc003thp.1_RNA NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 409 transferase activity ovary(2) 2 AGGCCGCCCCCGCTGCTCGGG 0.577 GLI3 2737 broad.mit.edu 37 7 42004994 42004994 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:42004994G>T uc011kbh.1 - 15 3768 c.3677C>A c.(3676-3678)CCA>CAA p.P1226Q GLI3_uc011kbg.1_Missense_Mutation_p.P1167Q NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1226 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CAAGTGCTCTGGGCCACCGTA 0.617 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome STK17A 9263 broad.mit.edu 37 7 43635706 43635706 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:43635706T>G uc003tih.2 + 2 564 c.413T>G c.(412-414)CTG>CGG p.L138R NM_004760 NP_004751 Q9UEE5 ST17A_HUMAN serine/threonine kinase 17a 138 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity skin(2) 2 ATCTTAGTTCTGGAATAGTAA 0.363 POLM 27434 broad.mit.edu 37 7 44113278 44113278 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:44113278G>A uc003tjt.2 - 10 1436 c.1344C>T c.(1342-1344)AGC>AGT p.S448S POLM_uc003tjw.1_Silent_p.S67S|POLM_uc003tju.2_Silent_p.S411S|POLM_uc003tjx.2_Silent_p.S368S|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Silent_p.S98S NM_013284 NP_037416 Q9NP87 DPOLM_HUMAN DNA-directed DNA polymerase mu 448 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 TCTCCTTCCGGCTGAAGCGGC 0.652 DNA_polymerases_(catalytic_subunits) AEBP1 165 broad.mit.edu 37 7 44151594 44151594 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:44151594G>A uc003tkb.2 + 16 2287 c.1982G>A c.(1981-1983)CGC>CAC p.R661H AEBP1_uc003tkc.3_Missense_Mutation_p.R236H|AEBP1_uc003tkd.2_5'UTR NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 661 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CAGGACACACGCATCCACCTG 0.647 CCM2 83605 broad.mit.edu 37 7 45103550 45103550 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:45103550C>A uc003tmo.2 + 3 384 c.238C>A c.(238-240)CTG>ATG p.L80M CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.L22M|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.L80M|CCM2_uc011kcb.1_Missense_Mutation_p.L43M|CCM2_uc011kcc.1_Intron|CCM2_uc003tms.2_Missense_Mutation_p.L101M NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 80 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 ACCAGGATACCTGAATCCCTC 0.468 Familial_Cerebral_Cavernous_Angioma TBRG4 9238 broad.mit.edu 37 7 45142994 45142994 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:45142994C>T uc003tmv.2 - 6 1240 c.1114G>A c.(1114-1116)GTA>ATA p.V372I TBRG4_uc003tmu.2_Missense_Mutation_p.V197I|TBRG4_uc003tmw.2_Missense_Mutation_p.V262I|TBRG4_uc003tmx.2_Missense_Mutation_p.V262I|TBRG4_uc011kcd.1_Missense_Mutation_p.V383I NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN cell cycle progression 2 protein isoform 1 372 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity 0 GCCAGAAGTACGCTGCACAGG 0.572 ADCY1 107 broad.mit.edu 37 7 45748012 45748012 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:45748012G>A uc003tne.3 + 18 2899 c.2881G>A c.(2881-2883)GTT>ATT p.V961I NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 961 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 membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GATGTTTGACGTTCTGGATGA 0.488 SUN3 256979 broad.mit.edu 37 7 48068665 48068665 + Translation_Start_Site SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:48068665C>T uc003tof.2 - 1 52 c.-45G>A c.(-47--43)CCGTG>CCATG SUN3_uc003tog.2_Translation_Start_Site|SUN3_uc011kcf.1_Translation_Start_Site NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 integral to membrane central_nervous_system(1) 1 TCTTCCTCCACGGGTGTTTCT 0.398 VSTM2A 222008 broad.mit.edu 37 7 54610361 54610361 + Translation_Start_Site SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:54610361C>T uc010kzf.2 + 1 343 c.-62C>T c.(-64--60)CACGC>CATGC VSTM2A_uc010kze.2_Translation_Start_Site|VSTM2A_uc003tqc.3_Translation_Start_Site NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2 extracellular region 0 STAD - Stomach adenocarcinoma(5;0.0525) TCCACTCGCACGCCTTTCTTT 0.547 EGFR 1956 broad.mit.edu 37 7 55240694 55240694 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:55240694C>T uc003tqk.2 + 17 2184 c.1938C>T c.(1936-1938)ATC>ATT p.I646I EGFR_uc010kzg.1_Silent_p.I601I|EGFR_uc011kco.1_Silent_p.I593I NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 646 Helical; (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCCCGTCCATCGCCACTGGGA 0.617 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) CCT6A 908 broad.mit.edu 37 7 56126071 56126071 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:56126071T>G uc003trl.1 + 7 906 c.742T>G c.(742-744)TTT>GTT p.F248V PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.F203V|CCT6A_uc011kcu.1_Missense_Mutation_p.F217V|SNORA15_uc003trn.1_5'Flank NM_001762 NP_001753 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A isoform 248 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding upper_aerodigestive_tract(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAATTCTGGCTTTTTTTACAA 0.313 AUTS2 26053 broad.mit.edu 37 7 70252292 70252292 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:70252292G>A uc003tvw.3 + 18 3149 c.2406G>A c.(2404-2406)TCG>TCA p.S802S AUTS2_uc003tvx.3_Silent_p.S778S|AUTS2_uc011keg.1_Silent_p.S254S NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 802 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CGCCTCCGTCGTTCCCGACCC 0.602 WBSCR17 64409 broad.mit.edu 37 7 71142200 71142200 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:71142200G>A uc003tvy.2 + 9 1409 c.1409G>A c.(1408-1410)CGC>CAC p.R470H WBSCR17_uc003tvz.2_Missense_Mutation_p.R169H NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 470 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TTGCAGCTTCGCAACAACAAG 0.532 TRIM50 135892 broad.mit.edu 37 7 72738518 72738518 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:72738518C>T uc010lbd.1 - 2 393 c.268G>A c.(268-270)GTG>ATG p.V90M FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.V90M|TRIM50_uc003txz.1_Missense_Mutation_p.V90M NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 90 B box-type. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 CGGTGGTGCACGCAGACCTTG 0.682 OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CLDN4 1364 broad.mit.edu 37 7 73245910 73245910 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:73245910T>A uc003tzi.3 + 1 718 c.379T>A c.(379-381)TTG>ATG p.L127M RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA NM_001305 NP_001296 O14493 CLD4_HUMAN claudin 4 127 Helical; (Potential). calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity 0 Lung NSC(55;0.159) GGTGTTCCTGTTGGCCGGCCT 0.617 EIF4H 7458 broad.mit.edu 37 7 73604058 73604058 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:73604058C>T uc003uad.1 + 3 311 c.303C>T c.(301-303)TAC>TAT p.Y101Y RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Silent_p.Y101Y|EIF4H_uc010lbm.2_Silent_p.Y101Y|EIF4H_uc003uae.1_Silent_p.Y101Y|EIF4H_uc003uaf.1_RNA|MIR590_hsa-mir-590|MI0003602_5'Flank NM_022170 NP_071496 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 101 RRM. interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity 0 CCTTGACATACGATGGTGCAG 0.403 LAT2 7462 broad.mit.edu 37 7 73638506 73638506 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:73638506C>T uc003uag.2 + 12 1157 c.607C>T c.(607-609)CGC>TGC p.R203C RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.R203C|LAT2_uc003uai.2_Missense_Mutation_p.R203C|LAT2_uc010lbo.2_RNA NM_032464 NP_115853 Q9GZY6 NTAL_HUMAN linker for activation of T cells family member 203 Cytoplasmic (Potential). B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding 0 CCATCAGTGGCGCGAGTCCAG 0.587 C7orf23 79161 broad.mit.edu 37 7 86827314 86827314 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:86827314C>T uc003uio.2 - 3 389 c.177G>A c.(175-177)CCG>CCA p.P59P NM_024315 NP_077291 Q9BU79 CG023_HUMAN chromosome 7 open reading frame 23 59 integral to membrane 0 Esophageal squamous(14;0.0058)|all_lung(186;0.191)|Lung NSC(181;0.192) ATATATTCAACGGTTTTGGAG 0.363 HNSCC(41;0.11) STEAP4 79689 broad.mit.edu 37 7 87912268 87912268 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:87912268G>C uc003ujs.2 - 3 777 c.672C>G c.(670-672)ATC>ATG p.I224M STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.I224M NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 224 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) CATAAGGGTAGATTACGTCTC 0.383 ZNF804B 219578 broad.mit.edu 37 7 88963633 88963633 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:88963633T>G uc011khi.1 + 4 1875 c.1337T>G c.(1336-1338)GTT>GGT p.V446G NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 446 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) TTTCTCCACGTTCAAAGCAAG 0.403 HNSCC(36;0.09) KRIT1 889 broad.mit.edu 37 7 91852279 91852279 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:91852279C>T uc003ulq.1 - 11 1439 c.1268G>A c.(1267-1269)CGA>CAA p.R423Q KRIT1_uc010lev.1_Missense_Mutation_p.R180Q|KRIT1_uc003ulr.1_Missense_Mutation_p.R423Q|KRIT1_uc003uls.1_Missense_Mutation_p.R423Q|KRIT1_uc003ult.1_Missense_Mutation_p.R375Q|KRIT1_uc003ulu.1_Missense_Mutation_p.R423Q|KRIT1_uc003ulv.1_Missense_Mutation_p.R423Q NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 423 FERM. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCTGTATATTCGAACTTTTTC 0.343 Familial_Cerebral_Cavernous_Angioma ANKIB1 54467 broad.mit.edu 37 7 92027163 92027163 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:92027163A>G uc003ulw.2 + 19 2898 c.2522A>G c.(2521-2523)GAC>GGC p.D841G ANKIB1_uc010lew.1_Missense_Mutation_p.D110G NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 841 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAAAACCAGGACTCTCTTCAG 0.507 ZNF394 84124 broad.mit.edu 37 7 99091276 99091276 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:99091276C>A uc003uqs.2 - 3 1723 c.1562G>T c.(1561-1563)GGG>GTG p.G521V ZNF394_uc003uqt.2_Missense_Mutation_p.G314V NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 521 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AGGCTTTTCCCCAGTGTGAAT 0.428 MCM7 4176 broad.mit.edu 37 7 99690627 99690627 + Silent SNP C C T rs139468339 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:99690627C>T uc003usw.1 - 15 2598 c.2088G>A c.(2086-2088)GCG>GCA p.A696A MCM7_uc003usv.1_Silent_p.A520A|MCM7_uc003usx.1_Silent_p.A520A NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 696 Interaction with ATRIP. 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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CATCCAGAGCCGCCTGGAACT 0.592 PVRIG 79037 broad.mit.edu 37 7 99818219 99818219 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:99818219C>T uc003uue.2 + 5 891 c.519C>T c.(517-519)GCC>GCT p.A173A GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Silent_p.A173A NM_024070 NP_076975 Q6DKI7 PVRIG_HUMAN poliovirus receptor related immunoglobulin 173 Helical; (Potential). integral to membrane skin(2) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGACCTGGCCGGGATCTTGG 0.647 FBXO24 26261 broad.mit.edu 37 7 100192158 100192158 + Missense_Mutation SNP G G A rs140728414 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:100192158G>A uc003uvm.1 + 6 1239 c.946G>A c.(946-948)GTC>ATC p.V316I FBXO24_uc003uvl.1_Missense_Mutation_p.V302I|FBXO24_uc003uvn.1_Missense_Mutation_p.V11I|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.V354I|FBXO24_uc011kka.1_Missense_Mutation_p.V304I NM_033506 NP_277041 O75426 FBX24_HUMAN F-box only protein 24 isoform 1 316 ubiquitin ligase complex ubiquitin-protein ligase activity ovary(3)|skin(1) 4 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CACCCTCTACGTCACAGGTAT 0.597 GIGYF1 64599 broad.mit.edu 37 7 100282113 100282113 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:100282113C>T uc003uwg.1 - 13 2598 c.1589G>A c.(1588-1590)CGC>CAC p.R530H NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 530 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AAAGGGCACGCGGCCCCACAT 0.667 GIGYF1 64599 broad.mit.edu 37 7 100283673 100283673 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:100283673C>T uc003uwg.1 - 9 1987 c.978G>A c.(976-978)GAG>GAA p.E326E NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 326 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCAGCTCCTGCTCCTCAGGAA 0.677 EPHB4 2050 broad.mit.edu 37 7 100403278 100403278 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:100403278C>T uc003uwn.1 - 15 3014 c.2523G>A c.(2521-2523)CCG>CCA p.P841P EPHB4_uc003uwm.1_Silent_p.P748P|EPHB4_uc010lhj.1_Silent_p.P841P NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 841 Cytoplasmic (Potential).|Protein kinase. 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) AGTCTGGGGGCGGGGGCAGCC 0.617 SLC12A9 56996 broad.mit.edu 37 7 100454739 100454739 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:100454739C>T uc003uwp.2 + 5 840 c.698C>T c.(697-699)CCG>CTG p.P233L SLC12A9_uc003uwo.1_Missense_Mutation_p.P144L|SLC12A9_uc003uwq.2_Missense_Mutation_p.P144L|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'UTR|SLC12A9_uc003uwv.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 233 Extracellular (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) TCCTCCCTGCCGCCCCGGTTT 0.647 TRIM56 81844 broad.mit.edu 37 7 100732369 100732369 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:100732369C>T uc003uxq.2 + 3 2007 c.1776C>T c.(1774-1776)CAC>CAT p.H592H TRIM56_uc003uxr.2_Intron NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 592 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) AGGCCAGCCACGCGGTGGCGG 0.677 CUX1 1523 broad.mit.edu 37 7 101845475 101845475 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:101845475C>T uc003uyx.3 + 18 2936 c.2898C>T c.(2896-2898)TTC>TTT p.F966F CUX1_uc003uys.3_Silent_p.F977F|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 966 CUT 2. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 AGAGAATCTTCGGGGAGAAGG 0.557 LRRC17 10234 broad.mit.edu 37 7 102574619 102574619 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:102574619C>T uc003vau.2 + 2 648 c.259C>T c.(259-261)CTG>TTG p.L87L FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Silent_p.L87L NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 isoform 1 87 LRR 1. bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space ovary(1) 1 GCTGCACATGCTGCTAGCAAG 0.398 PRKAR2B 5577 broad.mit.edu 37 7 106791470 106791470 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:106791470T>C uc003vdx.2 + 7 1018 c.843_splice c.e7+2 p.E281_splice NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 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 TCTTTGGAGGTAAGTATATGT 0.269 PPP1R3A 5506 broad.mit.edu 37 7 113519436 113519436 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:113519436C>T uc010ljy.1 - 4 1742 c.1711G>A c.(1711-1713)GCA>ACA p.A571T NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 571 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GTGGGGATTGCGGTATGTTCG 0.473 CFTR 1080 broad.mit.edu 37 7 117171005 117171005 + Missense_Mutation SNP A A G rs121909031 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:117171005A>G uc003vjd.2 + 4 458 c.326A>G c.(325-327)TAT>TGT p.Y109C CFTR_uc011knq.1_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 109 ABC transmembrane type-1 1.|Extracellular (Potential). Y -> C (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ATAGCTTCCTATGACCCGGAT 0.418 Cystic_Fibrosis KCND2 3751 broad.mit.edu 37 7 119915439 119915439 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:119915439G>A uc003vjj.1 + 1 1718 c.753G>A c.(751-753)GCG>GCA p.A251A NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 251 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TGGCTGCAGCGCCTAGTCGTT 0.532 C7orf58 79974 broad.mit.edu 37 7 120781026 120781026 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:120781026G>C uc003vjq.3 + 15 2292 c.1845G>C c.(1843-1845)AAG>AAC p.K615N C7orf58_uc003vjs.3_Missense_Mutation_p.K615N|C7orf58_uc003vjt.3_Missense_Mutation_p.K395N NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 615 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AAACTCCTAAGTGTCTGTGCA 0.438 HYAL4 23553 broad.mit.edu 37 7 123508820 123508820 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:123508820C>A uc003vlc.2 + 3 1131 c.493C>A c.(493-495)CAG>AAG p.Q165K HYAL4_uc011knz.1_Missense_Mutation_p.Q165K NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 165 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 TGTTTACAGACAGAAGTCAAG 0.403 GCC1 79571 broad.mit.edu 37 7 127223030 127223030 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:127223030C>T uc003vma.2 - 2 1784 c.1366G>A c.(1366-1368)GTG>ATG p.V456M NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 456 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 AGCTTCTCCACATCCAGGGTC 0.532 FSCN3 29999 broad.mit.edu 37 7 127235709 127235709 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:127235709C>T uc003vmd.1 + 2 712 c.493C>T c.(493-495)CGC>TGC p.R165C FSCN3_uc003vmc.1_Missense_Mutation_p.R120C|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R31C|FSCN3_uc010llc.1_Missense_Mutation_p.R165C NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 165 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 CACTATGGGCCGCATCTGGGT 0.607 FLNC 2318 broad.mit.edu 37 7 128483862 128483862 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:128483862G>A uc003vnz.3 + 19 3033 c.2824G>A c.(2824-2826)GTG>ATG p.V942M FLNC_uc003voa.3_Missense_Mutation_p.V942M NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 942 Filamin 7. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CAACATGGCAGTGACAGTGAC 0.527 FLNC 2318 broad.mit.edu 37 7 128494555 128494555 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:128494555C>T uc003vnz.3 + 41 7025 c.6816C>T c.(6814-6816)AGC>AGT p.S2272S FLNC_uc003voa.3_Silent_p.S2239S NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2272 Filamin 20. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GCGAGGACAGCGCCTACAGCG 0.637 FAM40B 57464 broad.mit.edu 37 7 129122851 129122851 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:129122851C>T uc011koy.1 + 20 2258 c.2218C>T c.(2218-2220)CGT>TGT p.R740C FAM40B_uc003vow.2_Missense_Mutation_p.R740C|FAM40B_uc011koz.1_Missense_Mutation_p.R232C NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 740 0 CCAGAAAGTGCGTCACCGCAT 0.448 COPG2 26958 broad.mit.edu 37 7 130351756 130351756 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:130351756T>C uc003vqh.1 - 3 194 c.104A>G c.(103-105)AAT>AGT p.N35S NM_012133 NP_036265 Q9UBF2 COPG2_HUMAN coatomer protein complex, subunit gamma 2 35 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat protein binding|structural molecule activity 0 Melanoma(18;0.0435) TGGAGTTTCATTGAATATACG 0.279 PLXNA4 91584 broad.mit.edu 37 7 131895805 131895805 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:131895805G>T uc003vra.3 - 10 2424 c.2195C>A c.(2194-2196)TCT>TAT p.S732Y NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 732 Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 ACGCTGCCCAGACTGGGGCTG 0.627 CHCHD3 54927 broad.mit.edu 37 7 132659927 132659927 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:132659927A>G uc003vre.2 - 4 505 c.369_splice c.e4+1 p.L123_splice CHCHD3_uc010lmi.2_Splice_Site|CHCHD3_uc003vrf.2_Missense_Mutation_p.V124A|CHCHD3_uc010lmj.2_5'UTR|CHCHD3_uc011kpn.1_Splice_Site_p.L123_splice NM_017812 NP_060282 Q9NX63 CHCH3_HUMAN coiled-coil-helix-coiled-coil-helix domain inner mitochondrial membrane organization|mitochondrial fusion mitochondrial inner membrane protein complex scaffold 0 TTTAATACTCACCAGGTGCTT 0.463 CNOT4 4850 broad.mit.edu 37 7 135079001 135079001 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:135079001C>T uc003vsv.1 - 10 1603 c.1296G>A c.(1294-1296)TCG>TCA p.S432S CNOT4_uc003vss.2_Silent_p.S429S|CNOT4_uc011kpz.1_Silent_p.S429S|CNOT4_uc003vst.2_Silent_p.S432S|CNOT4_uc003vsu.1_Silent_p.S429S|CNOT4_uc011kpy.1_Silent_p.S432S NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 432 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 GAGATGTGGGCGAAAGGGAAG 0.498 DGKI 9162 broad.mit.edu 37 7 137270094 137270094 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:137270094T>C uc003vtt.2 - 14 1427 c.1426_splice c.e14-1 p.G476_splice DGKI_uc003vtu.2_Splice_Site_p.G176_splice NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 AGTGTAGCCCTGAGGAATCAG 0.448 ZC3HAV1 56829 broad.mit.edu 37 7 138758625 138758625 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:138758625T>C uc003vun.2 - 7 2237 c.1849A>G c.(1849-1851)ACA>GCA p.T617A ZC3HAV1_uc003vuo.2_Missense_Mutation_p.T78A|ZC3HAV1_uc003vup.2_Missense_Mutation_p.T617A NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 617 WWE. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 TGAATCCATGTGCCAGATTCA 0.428 UBN2 254048 broad.mit.edu 37 7 138969097 138969097 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:138969097T>C uc011kqr.1 + 15 3446 c.3446T>C c.(3445-3447)CTA>CCA p.L1149P NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 1149 Ser-rich. ovary(1)|skin(1) 2 CCCTCAAAGCTAACAAACTCA 0.473 HIPK2 28996 broad.mit.edu 37 7 139268623 139268623 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:139268623C>T uc003vvf.3 - 13 3079 c.2905G>A c.(2905-2907)GTG>ATG p.V969M HIPK2_uc003vvd.3_Missense_Mutation_p.V942M NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 969 Required for localization to nuclear speckles (By similarity).|Interaction with AXIN1 (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) AGGGGTGGCACGATGATGGTT 0.592 HIPK2 28996 broad.mit.edu 37 7 139315949 139315949 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:139315949G>A uc003vvf.3 - 4 1483 c.1309C>T c.(1309-1311)CGT>TGT p.R437C HIPK2_uc003vvd.3_Missense_Mutation_p.R437C NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 437 Protein kinase.|Interaction with DAXX. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) TCCGTGTCACGGTTGAAAAAC 0.478 DENND2A 27147 broad.mit.edu 37 7 140255465 140255465 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:140255465G>A uc010lnj.2 - 10 2153 c.2008C>T c.(2008-2010)CGC>TGC p.R670C DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R670C|DENND2A_uc003vvw.2_Missense_Mutation_p.R670C|DENND2A_uc003vvx.2_Missense_Mutation_p.R670C NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 670 DENN. ovary(3)|breast(1) 4 Melanoma(164;0.00956) CATCCCAGGCGGCTCACAATG 0.527 ADCK2 90956 broad.mit.edu 37 7 140379077 140379077 + Silent SNP G G A rs141910091 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:140379077G>A uc003vvy.1 + 3 1381 c.1203G>A c.(1201-1203)ACG>ACA p.T401T ADCK2_uc003vvz.2_Silent_p.T401T NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 401 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity 0 Melanoma(164;0.00956) TGGTGGAAACGTATGAAGTAA 0.537 AGK 55750 broad.mit.edu 37 7 141351372 141351372 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:141351372G>A uc003vwi.2 + 15 1265 c.1094G>A c.(1093-1095)TGT>TAT p.C365Y AGK_uc011krg.1_RNA NM_018238 NP_060708 Q53H12 AGK_HUMAN acylglycerol kinase precursor 365 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity ovary(1)|breast(1) 2 Melanoma(164;0.0171) GGCACGGAGTGTCTCCAAGCC 0.557 KIAA1147 57189 broad.mit.edu 37 7 141386388 141386388 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:141386388A>G uc003vwk.2 - 2 339 c.339T>C c.(337-339)AGT>AGC p.S113S NM_001080392 NP_001073861 A4D1U4 LCHN_HUMAN hypothetical protein LOC57189 113 ovary(1) 1 Melanoma(164;0.0171) TATGGGACCCACTGGCCATAG 0.443 EPHB6 2051 broad.mit.edu 37 7 142568426 142568426 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:142568426A>G uc011kst.1 + 19 3732 c.2945A>G c.(2944-2946)CAG>CGG p.Q982R EPHB6_uc011ksu.1_Missense_Mutation_p.Q982R|EPHB6_uc003wbs.2_Missense_Mutation_p.Q690R|EPHB6_uc003wbt.2_Missense_Mutation_p.Q456R|EPHB6_uc003wbu.2_Missense_Mutation_p.Q690R|EPHB6_uc003wbv.2_Missense_Mutation_p.Q366R NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 982 SAM.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) GATGTGGCTCAGCTCAGCCTA 0.592 TAS2R60 338398 broad.mit.edu 37 7 143140741 143140741 + Missense_Mutation SNP C C T rs148979644 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:143140741C>T uc011ktg.1 + 1 196 c.196C>T c.(196-198)CGC>TGC p.R66C uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 66 Extracellular (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) AGGGGCCTCTCGCTTCTGTCT 0.498 OR6B1 135946 broad.mit.edu 37 7 143701922 143701922 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:143701922T>C uc003wdt.1 + 1 833 c.833T>C c.(832-834)ATT>ACT p.I278T NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) TTCTATGCCATTGTCACTCCT 0.423 OR2A14 135941 broad.mit.edu 37 7 143826976 143826976 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:143826976G>A uc011kua.1 + 1 771 c.771G>A c.(769-771)ACG>ACA p.T257T NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CCATTGTCACGTACATGGCCC 0.552 ZNF786 136051 broad.mit.edu 37 7 148768017 148768017 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:148768017G>A uc003wfh.2 - 4 1984 c.1847C>T c.(1846-1848)ACG>ATG p.T616M ZNF786_uc011kuk.1_Missense_Mutation_p.T579M|ZNF786_uc003wfi.2_Missense_Mutation_p.T530M NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCTCTCTCCCGTGTGCAGGCG 0.647 MLL3 58508 broad.mit.edu 37 7 151856005 151856005 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:151856005G>A uc003wla.2 - 44 11832 c.11613C>T c.(11611-11613)GAC>GAT p.D3871D MLL3_uc003wkz.2_Silent_p.D2932D|MLL3_uc003wkx.2_5'Flank|MLL3_uc003wky.2_Silent_p.D1380D NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3871 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCTCCTCTTCGTCCTTTTTCC 0.458 N medulloblastoma DPP6 1804 broad.mit.edu 37 7 154263935 154263935 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:154263935A>T uc003wlk.2 + 5 690 c.561A>T c.(559-561)TTA>TTT p.L187F DPP6_uc003wli.2_Missense_Mutation_p.L123F|DPP6_uc003wlj.2_Missense_Mutation_p.L187F|DPP6_uc003wlm.2_Missense_Mutation_p.L125F|DPP6_uc011kvq.1_Missense_Mutation_p.L125F NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 187 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGGAATCATTAAGAGCCATCA 0.303 VIPR2 7434 broad.mit.edu 37 7 158896468 158896468 + Missense_Mutation SNP C C T rs149519347 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:158896468C>T uc003woh.2 - 4 523 c.337G>A c.(337-339)GAC>AAC p.D113N VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA NM_003382 NP_003373 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 113 Extracellular (Potential). cell-cell signaling integral to plasma membrane lung(1)|central_nervous_system(1) 2 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) TCCTCCGGGTCGCTGTAGCCA 0.532 CSMD1 64478 broad.mit.edu 37 8 3245111 3245111 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:3245111G>T uc011kwk.1 - 18 3080 c.2690C>A c.(2689-2691)ACT>AAT p.T897N CSMD1_uc011kwj.1_Missense_Mutation_p.T289N|CSMD1_uc003wqe.2_Missense_Mutation_p.T53N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 897 Extracellular (Potential).|Sushi 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACAGCTGAAAGTCACTGTGGA 0.612 DEFA4 1669 broad.mit.edu 37 8 6794409 6794409 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:6794409C>T uc003wqu.1 - 2 64 c.13G>A c.(13-15)GCC>ACC p.A5T NM_001925 NP_001916 P12838 DEF4_HUMAN defensin, alpha 4 preproprotein 5 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space large_intestine(1) 1 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GCGAGGAGGGCGATAATCCTC 0.617 TNKS 8658 broad.mit.edu 37 8 9590873 9590873 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:9590873T>C uc003wss.2 + 15 2237 c.2232T>C c.(2230-2232)AAT>AAC p.N744N TNKS_uc011kww.1_Silent_p.N507N|TNKS_uc010lrt.1_5'Flank NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 744 ANK 11. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) CTTCTGTCAATGTGGCGGACT 0.413 TNKS 8658 broad.mit.edu 37 8 9609295 9609295 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:9609295C>T uc003wss.2 + 19 3014 c.3009C>T c.(3007-3009)GCC>GCT p.A1003A TNKS_uc011kww.1_Silent_p.A766A|TNKS_uc010lrt.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 1003 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) CAGAGTTGGCCGTAGGAGGAG 0.547 RP1L1 94137 broad.mit.edu 37 8 10469597 10469597 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:10469597G>A uc003wtc.2 - 4 2240 c.2011C>T c.(2011-2013)CGC>TGC p.R671C NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 671 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GTGTCCTTGCGGTAGTGAGAA 0.642 FAM86B1 85002 broad.mit.edu 37 8 12044028 12044028 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:12044028C>T uc010lse.2 - 5 518 c.473G>A c.(472-474)CGG>CAG p.R158Q FAM66D_uc011kxp.1_Intron|FAM86B1_uc003wvf.3_Intron|FAM86B1_uc003wvi.3_Intron|FAM86B1_uc010lsd.2_Intron|FAM86B1_uc003wvh.3_Intron|FAM86B1_uc011kxq.1_Intron|FAM86B1_uc010lsf.2_Intron|FAM86B1_uc003wvj.3_Missense_Mutation_p.R92Q|FAM86B1_uc003wvk.3_Missense_Mutation_p.R192Q|FAM86B1_uc010lsg.2_Intron|FAM86B1_uc003wvl.3_Intron NM_001083537 NP_001077006 Q8N7N1 F86B1_HUMAN hypothetical protein LOC85002 158 0 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.0965) CTCGAGGACCCGGCTGTGAGG 0.607 SGCZ 137868 broad.mit.edu 37 8 13965704 13965704 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:13965704C>T uc003wwq.2 - 6 1248 c.588G>A c.(586-588)CCG>CCA p.P196P SGCZ_uc010lss.2_Silent_p.P149P NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 183 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTCTGATGTGCGGCGTCTCCA 0.463 MTUS1 57509 broad.mit.edu 37 8 17503472 17503472 + Missense_Mutation SNP G G A rs148435996 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:17503472G>A uc003wxv.2 - 15 4250 c.3776C>T c.(3775-3777)TCG>TTG p.S1259L MTUS1_uc003wxt.2_Missense_Mutation_p.S506L|MTUS1_uc011kyg.1_Missense_Mutation_p.S404L|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.S1205L|MTUS1_uc003wxs.2_Missense_Mutation_p.S425L NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 1259 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) GAAGGAGCCCGAATTCCTTGG 0.552 MTUS1 57509 broad.mit.edu 37 8 17611433 17611433 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:17611433C>T uc003wxv.2 - 2 2358 c.1884G>A c.(1882-1884)GGG>GGA p.G628G MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.G628G|MTUS1_uc010lsz.2_Silent_p.G628G NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 628 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) CAGAAACGGACCCGGTCTCGC 0.433 MTUS1 57509 broad.mit.edu 37 8 17612446 17612446 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:17612446C>T uc003wxv.2 - 2 1345 c.871G>A c.(871-873)GCA>ACA p.A291T MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.A291T|MTUS1_uc010lsz.2_Missense_Mutation_p.A291T NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 291 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) GGTGTTAGTGCTTGTGTCTCC 0.413 CSGALNACT1 55790 broad.mit.edu 37 8 19277935 19277935 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:19277935T>C uc011kyn.1 - 7 2112 c.1048A>G c.(1048-1050)AGC>GGC p.S350G CSGALNACT1_uc011kyo.1_Missense_Mutation_p.S350G|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.S349G NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 350 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) AGGACGTTGCTTCCCTTCCAG 0.463 NPM2 10361 broad.mit.edu 37 8 21882970 21882970 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:21882970C>T uc003xab.2 + 3 740 c.82C>T c.(82-84)CGG>TGG p.R28W NPM2_uc003xac.2_Missense_Mutation_p.R28W|NPM2_uc003xad.2_Missense_Mutation_p.R28W|NPM2_uc003xae.2_Missense_Mutation_p.R28W|NPM2_uc003xaf.2_Missense_Mutation_p.R28W NM_182795 NP_877724 Q86SE8 NPM2_HUMAN nucleoplasmin 2 28 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding 0 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) TCAGGAGAGGCGGACTTGGAC 0.622 PDLIM2 64236 broad.mit.edu 37 8 22452116 22452116 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:22452116G>A uc003xcc.1 + 10 1189 c.1055G>A c.(1054-1056)CGG>CAG p.R352Q NM_176871 NP_789847 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 isoform 1 Error:Variant_position_missing_in_Q96JY6_after_alignment actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) GGCGCCAAGCGGAGGGACAGG 0.597 CHMP7 91782 broad.mit.edu 37 8 23106740 23106740 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:23106740G>A uc003xdc.2 + 3 965 c.317G>A c.(316-318)CGG>CAG p.R106Q CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_5'UTR NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN CHMP family, member 7 106 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity 0 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GAGCTGCAGCGGGAGTCAGAC 0.532 ENTPD4 9583 broad.mit.edu 37 8 23291937 23291937 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:23291937C>T uc003xdl.2 - 12 1679 c.1515G>A c.(1513-1515)TCG>TCA p.S505S ENTPD4_uc011kzu.1_Silent_p.S497S|ENTPD4_uc003xdm.2_Silent_p.S497S|ENTPD4_uc011kzv.1_Silent_p.S505S NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 505 Lumenal (Potential). UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) TGACAGGAAACGAAAAGCCCC 0.478 ENTPD4 9583 broad.mit.edu 37 8 23292942 23292942 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:23292942C>T uc003xdl.2 - 11 1587 c.1423G>A c.(1423-1425)GGA>AGA p.G475R ENTPD4_uc011kzu.1_Missense_Mutation_p.G467R|ENTPD4_uc003xdm.2_Missense_Mutation_p.G467R|ENTPD4_uc011kzv.1_Missense_Mutation_p.G475R NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 475 Lumenal (Potential). UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) GCGTACAGTCCTCGGTCAAAG 0.438 ADAM28 10863 broad.mit.edu 37 8 24171018 24171018 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:24171018C>T uc003xdy.2 + 6 584 c.501C>T c.(499-501)AGC>AGT p.S167S ADAM28_uc003xdx.2_Silent_p.S167S|ADAM28_uc011kzz.1_Intron|ADAM28_uc011laa.1_RNA NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 167 Cysteine switch (By similarity). proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ATTATGACAGCACCTGTGGGA 0.433 ADAM28 10863 broad.mit.edu 37 8 24187564 24187564 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:24187564A>T uc003xdy.2 + 11 1122 c.1039A>T c.(1039-1041)ATG>TTG p.M347L ADAM28_uc003xdx.2_Missense_Mutation_p.M347L|ADAM28_uc011kzz.1_Missense_Mutation_p.M114L|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.M34L NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 347 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CAACTTTGGAATGTTTCATGA 0.443 HMBOX1 79618 broad.mit.edu 37 8 28902895 28902895 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:28902895A>G uc003xhd.3 + 7 1211 c.869A>G c.(868-870)CAA>CGA p.Q290R HMBOX1_uc010lvd.2_Missense_Mutation_p.Q290R|HMBOX1_uc003xhc.3_Missense_Mutation_p.Q290R|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.Q290R|HMBOX1_uc011lay.1_Missense_Mutation_p.Q290R|HMBOX1_uc003xhf.2_Missense_Mutation_p.Q278R|HMBOX1_uc003xhg.2_Missense_Mutation_p.Q278R NM_001135726 NP_001129198 Q6NT76 HMBX1_HUMAN homeobox containing 1 290 Homeobox. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) AATGAGAATCAATACCCAGAT 0.403 TEX15 56154 broad.mit.edu 37 8 30702292 30702292 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:30702292T>C uc003xil.2 - 1 4242 c.4242A>G c.(4240-4242)TCA>TCG p.S1414S NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1414 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTTCAGTTCCTGATGCTACAT 0.368 UNC5D 137970 broad.mit.edu 37 8 35544067 35544067 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:35544067T>C uc003xjr.1 + 7 1252 c.924T>C c.(922-924)GAT>GAC p.D308D UNC5D_uc003xjs.1_Silent_p.D303D|UNC5D_uc003xjt.1_Silent_p.D77D NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 308 Extracellular (Potential).|TSP type-1 2. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGAAGTGGATGGGAGCTGGG 0.517 ASH2L 9070 broad.mit.edu 37 8 37967974 37967974 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:37967974G>A uc003xkt.3 + 4 537 c.479G>A c.(478-480)CGG>CAG p.R160Q ASH2L_uc011lbk.1_Missense_Mutation_p.R21Q|ASH2L_uc003xku.3_Missense_Mutation_p.R66Q|ASH2L_uc010lwa.2_Missense_Mutation_p.R66Q NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 160 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) TATTTCCTCCGGAAGCAAGCA 0.443 FGFR1 2260 broad.mit.edu 37 8 38282177 38282177 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:38282177G>A uc003xlp.2 - 7 1728 c.786C>T c.(784-786)CCC>CCT p.P262P FGFR1_uc011lbo.1_Silent_p.P260P|FGFR1_uc011lbp.1_Silent_p.P173P|FGFR1_uc011lbq.1_Silent_p.P171P|FGFR1_uc010lwk.2_Silent_p.P254P|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Silent_p.P102P|FGFR1_uc011lbt.1_Silent_p.P171P|FGFR1_uc011lbu.1_Silent_p.P293P|FGFR1_uc011lbv.1_Silent_p.P260P|FGFR1_uc011lbw.1_Silent_p.P173P|FGFR1_uc011lbx.1_Silent_p.P173P|FGFR1_uc003xlv.2_Silent_p.P173P|FGFR1_uc003xlu.2_Silent_p.P171P NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 262 Ig-like C2-type 3.|Extracellular (Potential). axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TTTTGTTGGCGGGCAACCCTG 0.587 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome HTRA4 203100 broad.mit.edu 37 8 38840069 38840069 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:38840069T>C uc003xmj.2 + 7 1282 c.1167T>C c.(1165-1167)ACT>ACC p.T389T NM_153692 NP_710159 P83105 HTRA4_HUMAN HtrA serine peptidase 4 precursor 389 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity 0 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TGTCCCTCACTGTGCCGTAAG 0.418 ADAM32 203102 broad.mit.edu 37 8 39131867 39131867 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:39131867C>T uc003xmt.3 + 21 2483 c.2238C>T c.(2236-2238)AGC>AGT p.S746S ADAM32_uc011lch.1_Silent_p.S647S|ADAM32_uc003xmu.3_Intron|ADAM32_uc003xmv.2_Intron NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 746 Cytoplasmic (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) CATATGCCAGCCAGTAAGTAG 0.303 HOOK3 84376 broad.mit.edu 37 8 42812253 42812253 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:42812253C>A uc003xpr.2 + 7 727 c.485C>A c.(484-486)TCT>TAT p.S162Y HOOK3_uc010lxq.1_Missense_Mutation_p.S162Y NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 162 Sufficient for interaction with microtubules. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) AGTAAAGAATCTCCTGTCTCT 0.308 T RET papillary thyroid HGSNAT 138050 broad.mit.edu 37 8 43048942 43048942 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:43048942C>A uc003xpx.3 + 14 1468 c.1420C>A c.(1420-1422)CTG>ATG p.L474M NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 502 Helical; (Potential). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity 0 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) CGAGGGCATCCTGGGCACCAT 0.428 KIAA0146 23514 broad.mit.edu 37 8 48641512 48641512 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:48641512G>T uc003xqd.2 + 18 2462 c.2453G>T c.(2452-2454)GGG>GTG p.G818V KIAA0146_uc011ldc.1_Missense_Mutation_p.G748V|KIAA0146_uc011ldd.1_Missense_Mutation_p.G758V|KIAA0146_uc003xqe.2_Missense_Mutation_p.G293V|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Missense_Mutation_p.G323V|KIAA0146_uc011ldg.1_Missense_Mutation_p.G308V|KIAA0146_uc003xqg.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 818 0 Lung NSC(58;0.175) TTTTCCTGTGGGGACTGCTCC 0.547 SNAI2 6591 broad.mit.edu 37 8 49832564 49832564 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:49832564G>A uc003xqp.2 - 2 680 c.516C>T c.(514-516)GGC>GGT p.G172G NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 172 C2H2-type 2. canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TCTTCAGGGCGCCCAGGCTCA 0.483 RP1 6101 broad.mit.edu 37 8 55542602 55542602 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:55542602C>G uc003xsd.1 + 4 6308 c.6160C>G c.(6160-6162)CTC>GTC p.L2054V RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2054 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TACACAAGACCTCAGCGGTCA 0.343 TGS1 96764 broad.mit.edu 37 8 56723563 56723563 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:56723563A>G uc003xsj.3 + 11 2654 c.2267A>G c.(2266-2268)AAG>AGG p.K756R TGS1_uc010lyh.2_Intron NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 756 Sufficient for catalytic activity. cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) TCTTTTTTAAAGGCTGATGTT 0.448 NSMAF 8439 broad.mit.edu 37 8 59512542 59512542 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:59512542G>A uc003xtt.2 - 17 1533 c.1319C>T c.(1318-1320)ACG>ATG p.T440M NSMAF_uc011lee.1_Missense_Mutation_p.T471M NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 440 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) TTTAAAATCCGTTGCACCATC 0.318 TOX 9760 broad.mit.edu 37 8 59872540 59872540 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:59872540T>G uc003xtw.1 - 2 351 c.130A>C c.(130-132)ATG>CTG p.M44L NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 44 nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GGCTCTGTCATGCTCATATAC 0.358 CHD7 55636 broad.mit.edu 37 8 61769375 61769375 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:61769375G>A uc003xue.2 + 34 8013 c.7536G>A c.(7534-7536)AGG>AGA p.R2512R NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2512 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) TGAAGAGGAGGCGGGGAAGGA 0.542 CYP7B1 9420 broad.mit.edu 37 8 65527711 65527711 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:65527711C>T uc003xvj.2 - 4 1133 c.929G>A c.(928-930)CGG>CAG p.R310Q NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 310 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) TTCTGGGTGCCGCAGAAGATA 0.473 ADHFE1 137872 broad.mit.edu 37 8 67369066 67369066 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:67369066A>G uc003xwb.3 + 11 1035 c.1001A>G c.(1000-1002)TAC>TGC p.Y334C ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.Y286C|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.Y264C NM_144650 NP_653251 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 334 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GGAATGTCTTACCCAATTTCA 0.313 C8orf44 56260 broad.mit.edu 37 8 67590095 67590095 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:67590095C>T uc003xwo.1 + 2 305 c.152C>T c.(151-153)GCC>GTC p.A51V SGK3_uc003xwp.2_Intron|C8orf44_uc003xwq.1_Missense_Mutation_p.A51V NM_019607 NP_062553 Q96CB5 CH044_HUMAN hypothetical protein LOC56260 51 0 Breast(64;0.186) Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149) ctttgggaggccaaggcaggc 0.149 ARFGEF1 10565 broad.mit.edu 37 8 68170430 68170430 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:68170430G>A uc003xxo.1 - 16 2721 c.2331C>T c.(2329-2331)TTC>TTT p.F777F ARFGEF1_uc003xxl.1_Silent_p.F231F NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 777 SEC7. exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GGGCTGAAACGAAGTCTTTTC 0.383 KCNB2 9312 broad.mit.edu 37 8 73849681 73849681 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:73849681C>T uc003xzb.2 + 3 2679 c.2091C>T c.(2089-2091)ACC>ACT p.T697T NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 697 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) ACAATGCCACCGACAGTCCTA 0.517 TCEB1 6921 broad.mit.edu 37 8 74859040 74859040 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:74859040T>C uc003xzx.1 - 4 249 c.164A>G c.(163-165)AAC>AGC p.N55S TCEB1_uc003xzy.1_Missense_Mutation_p.N55S|TCEB1_uc003xzz.1_Missense_Mutation_p.N39S|TCEB1_uc003yaa.1_Missense_Mutation_p.N55S NM_005648 NP_005639 Q15369 ELOC_HUMAN elongin C 55 interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm protein binding 0 Breast(64;0.0311) Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499) ATTGGTTTCGTTCTCAGCAAA 0.264 HNF4G 3174 broad.mit.edu 37 8 76456166 76456166 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:76456166A>C uc003yaq.2 + 3 368 c.98A>C c.(97-99)AAG>ACG p.K33T HNF4G_uc003yap.1_Missense_Mutation_p.K33T|HNF4G_uc003yar.2_Missense_Mutation_p.K70T NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 33 Nuclear receptor. endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GATGGGTGCAAGGGTTTCTTC 0.448 ZFHX4 79776 broad.mit.edu 37 8 77766792 77766792 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:77766792G>A uc003yav.2 + 10 7887 c.7500G>A c.(7498-7500)CCG>CCA p.P2500P ZFHX4_uc003yau.1_Silent_p.P2545P|ZFHX4_uc003yaw.1_Silent_p.P2500P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2500 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) CCAACAATCCGCTGATGACTG 0.537 HNSCC(33;0.089) ZFHX4 79776 broad.mit.edu 37 8 77767737 77767737 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:77767737C>T uc003yav.2 + 10 8832 c.8445C>T c.(8443-8445)TGC>TGT p.C2815C ZFHX4_uc003yau.1_Silent_p.C2860C|ZFHX4_uc003yaw.1_Silent_p.C2815C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2815 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) CGGAGGTCTGCGATGACAAAT 0.483 HNSCC(33;0.089) ZFHX4 79776 broad.mit.edu 37 8 77768336 77768336 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:77768336C>T uc003yav.2 + 10 9431 c.9044C>T c.(9043-9045)GCA>GTA p.A3015V ZFHX4_uc003yau.1_Missense_Mutation_p.A3060V|ZFHX4_uc003yaw.1_Missense_Mutation_p.A3015V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3015 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) CAGCTGATGGCACAGCAAGAA 0.527 HNSCC(33;0.089) STMN2 11075 broad.mit.edu 37 8 80567284 80567284 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:80567284G>A uc003ybj.2 + 4 518 c.467G>A c.(466-468)CGT>CAT p.R156H STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Intron NM_007029 NP_008960 Q93045 STMN2_HUMAN superiorcervical ganglia, neural specific 10 156 Potential. intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding ovary(1)|central_nervous_system(1) 2 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) ATTATTGAACGTCTGCAGGAA 0.443 ZBTB10 65986 broad.mit.edu 37 8 81411872 81411872 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:81411872A>G uc003ybx.3 + 2 1714 c.1116A>G c.(1114-1116)GGA>GGG p.G372G ZBTB10_uc003ybv.3_Silent_p.G80G|ZBTB10_uc003ybw.3_Silent_p.G372G|ZBTB10_uc010lzt.2_Silent_p.G372G NM_001105539 NP_001099009 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 isoform 372 BTB. transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1) 1 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) TGGTAAGCGGAAAAATCTTCA 0.373 PAG1 55824 broad.mit.edu 37 8 81888852 81888852 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:81888852C>G uc003ybz.2 - 9 1937 c.1226G>C c.(1225-1227)GGT>GCT p.G409A NM_018440 NP_060910 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid 409 Cytoplasmic (Potential). epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity 0 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) TGGGACGAGACCGTGGTGGCC 0.557 WWP1 11059 broad.mit.edu 37 8 87473498 87473498 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:87473498T>C uc003ydt.2 + 23 2825 c.2545T>C c.(2545-2547)TTC>CTC p.F849L NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 849 HECT. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 ACTATTGCAGTTCGTCACTGG 0.343 MMP16 4325 broad.mit.edu 37 8 89198806 89198806 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:89198806G>A uc003yeb.3 - 3 585 c.303C>T c.(301-303)TGC>TGT p.C101C MMP16_uc003yec.2_Silent_p.C101C NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 101 Cysteine switch (By similarity). Zinc; in inhibited form (By similarity). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 CAGGTACACCGCATCGGGGCT 0.373 KLF10 7071 broad.mit.edu 37 8 103663847 103663847 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:103663847G>A uc011lhk.1 - 3 867 c.713C>T c.(712-714)ACG>ATG p.T238M KLF10_uc011lhj.1_Missense_Mutation_p.T227M NM_005655 NP_005646 Q13118 KLF10_HUMAN Kruppel-like factor 10 isoform a 238 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) GCAGATGACCGTCTCTGAGGA 0.522 OREG0018913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZFPM2 23414 broad.mit.edu 37 8 106813836 106813836 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:106813836T>C uc003ymd.2 + 8 1549 c.1526T>C c.(1525-1527)ATG>ACG p.M509T ZFPM2_uc011lhs.1_Missense_Mutation_p.M240T NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 509 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GATATCACCATGGTCCCTCAA 0.507 OXR1 55074 broad.mit.edu 37 8 107763096 107763096 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:107763096C>T uc011lht.1 + 16 2651 c.2552C>T c.(2551-2553)ACG>ATG p.T851M OXR1_uc003ymf.2_Missense_Mutation_p.T823M|OXR1_uc011lhu.1_Missense_Mutation_p.T816M|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Missense_Mutation_p.T479M|OXR1_uc003ymk.2_Missense_Mutation_p.T220M|OXR1_uc003yml.2_Missense_Mutation_p.T193M NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 851 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TCTTGTAAAACGTTTGGGAAT 0.353 PKHD1L1 93035 broad.mit.edu 37 8 110432768 110432768 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:110432768C>T uc003yne.2 + 23 2650 c.2546C>T c.(2545-2547)CCT>CTT p.P849L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 849 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) AGAAGACTTCCTGCATTAGCA 0.264 HNSCC(38;0.096) CSMD3 114788 broad.mit.edu 37 8 113529433 113529433 + Missense_Mutation SNP C C T rs138068999 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:113529433C>T uc003ynu.2 - 28 4745 c.4586G>A c.(4585-4587)CGT>CAT p.R1529H CSMD3_uc003yns.2_Missense_Mutation_p.R801H|CSMD3_uc003ynt.2_Missense_Mutation_p.R1489H|CSMD3_uc011lhx.1_Missense_Mutation_p.R1425H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1529 Extracellular (Potential).|Sushi 8. 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 CCCTGGGTCACGACACGCAGT 0.413 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRPS1 7227 broad.mit.edu 37 8 116426706 116426706 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:116426706C>T uc003ynz.2 - 6 3850 c.3391G>A c.(3391-3393)GTG>ATG p.V1131M TRPS1_uc011lhy.1_Missense_Mutation_p.V1135M|TRPS1_uc003yny.2_Missense_Mutation_p.V1144M|TRPS1_uc010mcy.2_Missense_Mutation_p.V1131M NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1131 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGGCCAGGCACGTGACTCAAG 0.468 Langer-Giedion_syndrome TRPS1 7227 broad.mit.edu 37 8 116430602 116430602 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:116430602C>T uc003ynz.2 - 5 3199 c.2740G>A c.(2740-2742)GGA>AGA p.G914R TRPS1_uc011lhy.1_Missense_Mutation_p.G918R|TRPS1_uc003yny.2_Missense_Mutation_p.G927R|TRPS1_uc010mcy.2_Missense_Mutation_p.G914R NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 914 GATA-type. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CATACATATCCGCCATTTGCA 0.478 Langer-Giedion_syndrome C8orf85 441376 broad.mit.edu 37 8 117950492 117950492 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:117950492G>A uc003yof.2 + 1 29 c.10G>A c.(10-12)GGG>AGG p.G4R NM_001025357 NP_001020528 Q4LEZ3 AARD_HUMAN alanine and arginine-rich domain-containing 4 0 GATGGGCCCCGGGGACTTCCG 0.627 EXT1 2131 broad.mit.edu 37 8 119123086 119123086 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:119123086G>T uc003yok.1 - 1 973 c.200C>A c.(199-201)CCT>CAT p.P67H NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 67 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TTGATCCCAAGGAACGAAGGG 0.582 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome ZHX1 11244 broad.mit.edu 37 8 124267604 124267604 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:124267604G>A uc003yqe.2 - 3 1013 c.583C>T c.(583-585)CGG>TGG p.R195W C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.R195W|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.R195W NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 195 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) ACTGCAATCCGTTTATTTTCC 0.358 KLHL38 340359 broad.mit.edu 37 8 124663913 124663913 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:124663913G>A uc003yqs.1 - 1 1278 c.1254C>T c.(1252-1254)CCC>CCT p.P418P NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 418 Kelch 3. 0 GCACCCCCACGGGCATGCTGG 0.557 ZFAT 57623 broad.mit.edu 37 8 135596140 135596140 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:135596140A>G uc003yup.2 - 10 2997 c.2822T>C c.(2821-2823)ATG>ACG p.M941T ZFAT_uc003yun.2_Missense_Mutation_p.M929T|ZFAT_uc003yuo.2_Missense_Mutation_p.M929T|ZFAT_uc010meh.2_Missense_Mutation_p.M929T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.M929T|ZFAT_uc010mej.2_Missense_Mutation_p.M879T NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 941 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTTGCCACACATGTCACATAG 0.443 ZFAT 57623 broad.mit.edu 37 8 135612794 135612794 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:135612794C>T uc003yup.2 - 7 2535 c.2360G>A c.(2359-2361)CGC>CAC p.R787H ZFAT_uc003yun.2_Missense_Mutation_p.R775H|ZFAT_uc003yuo.2_Missense_Mutation_p.R775H|ZFAT_uc010meh.2_Missense_Mutation_p.R775H|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R775H|ZFAT_uc010mej.2_Missense_Mutation_p.R725H|ZFAT_uc003yur.2_Missense_Mutation_p.R775H|ZFATAS_uc003yus.1_RNA NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 787 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AATTACGTGGCGTTTAAGGCA 0.428 FAM135B 51059 broad.mit.edu 37 8 139164785 139164785 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:139164785T>G uc003yuy.2 - 13 2104 c.1933A>C c.(1933-1935)AGT>CGT p.S645R FAM135B_uc003yux.2_Missense_Mutation_p.S546R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S207R|FAM135B_uc003yvb.2_Missense_Mutation_p.S207R NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 645 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGGGTAGAACTTAGTGGATCA 0.488 HNSCC(54;0.14) COL22A1 169044 broad.mit.edu 37 8 139833475 139833475 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:139833475C>T uc003yvd.2 - 7 1596 c.1149G>A c.(1147-1149)GCG>GCA p.A383A NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 383 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCTGCACCAGCGCACAGTCAA 0.567 HNSCC(7;0.00092) SLC45A4 57210 broad.mit.edu 37 8 142221699 142221699 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:142221699A>T uc003ywd.1 - 8 2547 c.2239T>A c.(2239-2241)TTT>ATT p.F747I SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_Missense_Mutation_p.I747N NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 Error:Variant_position_missing_in_Q5BKX6_after_alignment transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GGAAAAGAAAATTTTTTTTCT 0.448 TSNARE1 203062 broad.mit.edu 37 8 143399948 143399948 + Missense_Mutation SNP C C G rs149572193 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:143399948C>G uc003ywk.2 - 7 1059 c.941G>C c.(940-942)AGC>ACC p.S314T TSNARE1_uc011lju.1_Missense_Mutation_p.S314T|TSNARE1_uc003ywj.2_Missense_Mutation_p.S314T|TSNARE1_uc003ywl.3_Missense_Mutation_p.S95T NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 314 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTTCACGGAGCTGGCGCTGGC 0.657 JRK 8629 broad.mit.edu 37 8 143747230 143747230 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:143747230G>A uc003ywo.2 - 2 762 c.248C>T c.(247-249)ACG>ATG p.T83M JRK_uc003ywp.2_Missense_Mutation_p.T83M|JRK_uc010mew.1_Missense_Mutation_p.T83M NM_001077527 NP_001070995 jerky isoform b 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) cagcttgggcgtgtgcagcgt 0 CYP11B1 1584 broad.mit.edu 37 8 143957721 143957721 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:143957721G>A uc003yxi.2 - 5 897 c.890C>T c.(889-891)GCG>GTG p.A297V CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'UTR|CYP11B1_uc003yxj.2_Missense_Mutation_p.A297V|CYP11B1_uc010mey.2_Missense_Mutation_p.A368V NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 297 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CGACAGTTCCGCATTCAACAG 0.587 Familial_Hyperaldosteronism_type_I TOP1MT 116447 broad.mit.edu 37 8 144406745 144406745 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:144406745G>A uc003yxz.2 - 6 745 c.726C>T c.(724-726)TCC>TCT p.S242S TOP1MT_uc011lkd.1_Silent_p.S144S|TOP1MT_uc011lke.1_Silent_p.S144S|TOP1MT_uc010mfb.2_Silent_p.S144S|TOP1MT_uc011lkf.1_Silent_p.S37S|TOP1MT_uc010mfd.1_Silent_p.S37S NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 242 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CGGTGTTATCGGAGCGCACCT 0.577 FAM83H 286077 broad.mit.edu 37 8 144810854 144810854 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:144810854C>T uc003yzk.2 - 5 846 c.777G>A c.(775-777)GCG>GCA p.A259A FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 259 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGAACACGTGCGCCAGGCTGC 0.667 PLEC 5339 broad.mit.edu 37 8 144993399 144993399 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:144993399G>A uc003zaf.1 - 32 11171 c.11001C>T c.(10999-11001)TGC>TGT p.C3667C PLEC_uc003zab.1_Silent_p.C3530C|PLEC_uc003zac.1_Silent_p.C3534C|PLEC_uc003zad.2_Silent_p.C3530C|PLEC_uc003zae.1_Silent_p.C3498C|PLEC_uc003zag.1_Silent_p.C3508C|PLEC_uc003zah.2_Silent_p.C3516C|PLEC_uc003zaj.2_Silent_p.C3557C NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3667 Globular 2.|Plectin 16. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GGTCCTCCACGCACCGCTCCA 0.627 GRINA 2907 broad.mit.edu 37 8 145066190 145066190 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:145066190G>A uc003zan.1 + 4 803 c.637G>A c.(637-639)GTC>ATC p.V213I GRINA_uc003zao.1_Missense_Mutation_p.V213I|GRINA_uc003zap.1_Missense_Mutation_p.V213I NM_001009184 NP_001009184 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl 213 Helical; (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTCTCTCATCGTCCTCAGCTG 0.552 GPR172A 79581 broad.mit.edu 37 8 145583773 145583773 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:145583773A>G uc003zcc.1 + 3 778 c.621A>G c.(619-621)TCA>TCG p.S207S FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.S207S|GPR172A_uc003zce.1_Silent_p.S207S|GPR172A_uc010mfy.1_Silent_p.S207S|GPR172A_uc003zcf.1_Silent_p.S207S|GPR172A_uc011llc.1_Silent_p.S119S NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 207 Helical; (Potential). integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TGGTCGCTTCAGCTGCTGCCT 0.642 NFKBIL2 4796 broad.mit.edu 37 8 145666225 145666225 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:145666225G>A uc011llg.1 - 9 1055 c.1040C>T c.(1039-1041)CCG>CTG p.P347L NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 347 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CTCAGCACCCGGTCTGTCCAG 0.657 ARHGAP39 80728 broad.mit.edu 37 8 145770865 145770865 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:145770865T>C uc003zdt.1 - 7 2844 c.2289A>G c.(2287-2289)CCA>CCG p.P763P ARHGAP39_uc011llk.1_Silent_p.P763P|ARHGAP39_uc003zds.1_Silent_p.P763P NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 763 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 CCACGTGCAGTGGGTCGGCCT 0.647 ARHGAP39 80728 broad.mit.edu 37 8 145773530 145773530 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:145773530C>T uc003zdt.1 - 6 1495 c.940G>A c.(940-942)GAG>AAG p.E314K ARHGAP39_uc011llk.1_Missense_Mutation_p.E314K|ARHGAP39_uc003zds.1_Missense_Mutation_p.E314K NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 314 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 GGGGGCTCCTCGTAGAGCGGG 0.706 ZNF34 80778 broad.mit.edu 37 8 145999295 145999295 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:145999295A>G uc003zdy.3 - 6 1141 c.1039T>C c.(1039-1041)TAC>CAC p.Y347H ZNF34_uc010mgb.2_Missense_Mutation_p.Y244H|ZNF34_uc003zdx.3_Missense_Mutation_p.Y326H NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 347 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) AGGGAAGAGTAGGCGCTAAAG 0.507 ZNF16 7564 broad.mit.edu 37 8 146156790 146156790 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:146156790G>A uc003zet.2 - 4 1570 c.1383C>T c.(1381-1383)CAC>CAT p.H461H ZNF16_uc003zeu.2_Silent_p.H461H NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 461 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CATTACACACGTGAGGCTTTT 0.483 ZNF16 7564 broad.mit.edu 37 8 146157713 146157713 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:146157713C>T uc003zet.2 - 4 647 c.460G>A c.(460-462)GAC>AAC p.D154N ZNF16_uc003zeu.2_Missense_Mutation_p.D154N NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CCATTACAGTCCAGATCTTTC 0.572 DOCK8 81704 broad.mit.edu 37 9 311983 311983 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:311983C>T uc003zgf.2 + 6 670 c.558C>T c.(556-558)TGC>TGT p.C186C DOCK8_uc011lls.1_Silent_p.C186C|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.C118C|DOCK8_uc010mgt.2_Silent_p.C118C|DOCK8_uc003zgg.2_Silent_p.C118C|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 186 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ACGTGCTGTGCGACGTGTCTG 0.557 SMARCA2 6595 broad.mit.edu 37 9 2076291 2076291 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:2076291C>T uc003zhc.2 + 13 2097 c.1998C>T c.(1996-1998)AGC>AGT p.S666S SMARCA2_uc003zhd.2_Silent_p.S666S|SMARCA2_uc010mha.2_Silent_p.S657S NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 666 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATCCAAATAGCGAAGAAGTTT 0.388 GLIS3 169792 broad.mit.edu 37 9 4118541 4118541 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:4118541C>T uc003zhw.1 - 3 666 c.472G>A c.(472-474)GGG>AGG p.G158R GLIS3_uc003zhx.1_Missense_Mutation_p.G313R|GLIS3_uc003zic.1_Missense_Mutation_p.G313R|GLIS3_uc003zie.1_Missense_Mutation_p.G313R|GLIS3_uc010mhh.1_Missense_Mutation_p.G188R|GLIS3_uc003zid.1_Missense_Mutation_p.G91R|GLIS3_uc010mhi.1_Missense_Mutation_p.G120R|GLIS3_uc003zif.1_Missense_Mutation_p.G91R|GLIS3_uc003zig.1_Missense_Mutation_p.G157R|GLIS3_uc003zih.1_Missense_Mutation_p.G91R|GLIS3_uc003zhy.1_Missense_Mutation_p.G91R|GLIS3_uc003zhz.1_Missense_Mutation_p.G91R|GLIS3_uc003zib.1_Missense_Mutation_p.G157R|GLIS3_uc010mhg.1_Missense_Mutation_p.G91R NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 158 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) AAATCTATCCCGATGCCATCG 0.627 JAK2 3717 broad.mit.edu 37 9 5065030 5065030 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:5065030G>A uc010mhm.2 + 8 1317 c.1204G>A c.(1204-1206)GGC>AGC p.G402S JAK2_uc003ziw.2_Missense_Mutation_p.G402S NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 402 SH2; atypical. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) CAACTGTCATGGCCCAATTTC 0.328 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial RLN1 6013 broad.mit.edu 37 9 5335449 5335449 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:5335449C>T uc003zjb.1 - 2 487 c.360G>A c.(358-360)AAG>AAA p.K120K NM_006911 NP_008842 P04808 REL1_HUMAN relaxin 1 preproprotein 120 female pregnancy|signal transduction extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984) GATTGGAATCCTTTAATGCAG 0.418 C9orf123 90871 broad.mit.edu 37 9 7798583 7798583 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:7798583C>T uc003zki.2 - 2 287 c.243G>A c.(241-243)CCG>CCA p.P81P C9orf123_uc003zkj.2_Missense_Mutation_p.R110H Q96GE9 CI123_HUMAN Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867. 78 integral to membrane 0 all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356) GBM - Glioblastoma multiforme(50;0.0561) TCAAACAACGCGGTAGGCCTT 0.413 PTPRD 5789 broad.mit.edu 37 9 8465548 8465548 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:8465548T>C uc003zkk.2 - 31 4343 c.3632A>G c.(3631-3633)TAT>TGT p.Y1211C PTPRD_uc003zkp.2_Missense_Mutation_p.Y800C|PTPRD_uc003zkq.2_Missense_Mutation_p.Y800C|PTPRD_uc003zkr.2_Missense_Mutation_p.Y795C|PTPRD_uc003zks.2_Missense_Mutation_p.Y790C|PTPRD_uc003zkl.2_Missense_Mutation_p.Y1202C|PTPRD_uc003zkm.2_Missense_Mutation_p.Y1198C|PTPRD_uc003zkn.2_Missense_Mutation_p.Y800C|PTPRD_uc003zko.2_Missense_Mutation_p.Y797C NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1211 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AAATCCACCATAATGCTTGTC 0.413 TSP Lung(15;0.13) C9orf93 203238 broad.mit.edu 37 9 15678851 15678851 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:15678851A>G uc003zmd.2 + 10 1487 c.1172A>G c.(1171-1173)TAT>TGT p.Y391C C9orf93_uc010mih.1_Missense_Mutation_p.Y391C|C9orf93_uc003zme.2_Missense_Mutation_p.Y298C|C9orf93_uc011lmu.1_Missense_Mutation_p.Y391C NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 391 Potential. 0 GBM - Glioblastoma multiforme(50;4.84e-07) AGACTCCAGTATAATGAAAAA 0.303 BNC2 54796 broad.mit.edu 37 9 16582983 16582983 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:16582983T>C uc003zml.2 - 4 571 c.431A>G c.(430-432)CAT>CGT p.H144R BNC2_uc011lmw.1_Missense_Mutation_p.H49R|BNC2_uc003zmm.2_Missense_Mutation_p.H102R|BNC2_uc003zmq.1_Missense_Mutation_p.H158R|BNC2_uc003zmr.1_Missense_Mutation_p.H181R|BNC2_uc003zmp.1_Missense_Mutation_p.H172R|BNC2_uc010mij.1_Missense_Mutation_p.H66R|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_RNA|BNC2_uc010min.1_RNA|BNC2_uc003zmo.1_Missense_Mutation_p.H66R|BNC2_uc003zms.1_RNA|BNC2_uc010mik.1_RNA|BNC2_uc010mil.1_RNA|BNC2_uc003zmt.1_RNA NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) TTCCTCACCATGTGCCACCCA 0.348 DENND4C 55667 broad.mit.edu 37 9 19346646 19346646 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:19346646T>G uc003znq.2 + 18 3057 c.3024T>G c.(3022-3024)AGT>AGG p.S1008R DENND4C_uc011lnc.1_Missense_Mutation_p.S338R|DENND4C_uc011lnd.1_Missense_Mutation_p.S296R|DENND4C_uc003znr.2_Missense_Mutation_p.S296R|DENND4C_uc003zns.2_Missense_Mutation_p.S190R|DENND4C_uc003znt.2_Missense_Mutation_p.S190R NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1008 integral to membrane ovary(1)|skin(1) 2 ACCTAAAAAGTCCCCTAGGTA 0.383 KIAA1797 54914 broad.mit.edu 37 9 20988400 20988400 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:20988400C>T uc003zog.1 + 43 5339 c.4976C>T c.(4975-4977)ACA>ATA p.T1659I KIAA1797_uc003zoh.1_Missense_Mutation_p.T1095I NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1659 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) TACCAGTCAACATCCTTTCAC 0.323 TMEM215 401498 broad.mit.edu 37 9 32784413 32784413 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:32784413C>T uc003zri.3 + 2 597 c.232C>T c.(232-234)CGC>TGC p.R78C NM_212558 NP_997723 Q68D42 TM215_HUMAN transmembrane protein 215 78 integral to membrane 0 GCTGTGGGTCCGCAAATTGCC 0.597 KIF24 347240 broad.mit.edu 37 9 34269331 34269331 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:34269331T>C uc003zua.3 - 8 1487 c.1367A>G c.(1366-1368)GAA>GGA p.E456G KIF24_uc010mkb.2_Missense_Mutation_p.E487G NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 456 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) TGCTGCTCTTTCACTGCCAGC 0.353 KIAA1161 57462 broad.mit.edu 37 9 34371111 34371111 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:34371111G>A uc003zue.3 - 3 1998 c.1831C>T c.(1831-1833)CGG>TGG p.R611W NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN hypothetical protein LOC57462 611 Extracellular (Potential). carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|breast(1)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) AGCGAGGCCCGCAGGGCGGCG 0.677 FBXO10 26267 broad.mit.edu 37 9 37532017 37532017 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:37532017C>T uc004aab.2 - 4 1507 c.1458G>A c.(1456-1458)GCG>GCA p.A486A FBXO10_uc004aac.2_Silent_p.A502A|FBXO10_uc004aad.2_Silent_p.A36A NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 486 PbH1 5. ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) AGATGCCTGACGCTCGGCAGC 0.458 TMC1 117531 broad.mit.edu 37 9 75420425 75420425 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:75420425A>G uc004aiz.1 + 18 2234 c.1694A>G c.(1693-1695)TAT>TGT p.Y565C TMC1_uc010moz.1_Missense_Mutation_p.Y523C|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.Y419C|TMC1_uc010mpa.1_Missense_Mutation_p.Y419C NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 565 Cytoplasmic (Potential). sensory perception of sound integral to membrane ovary(1) 1 GAGTATGGATATGTAAGTATG 0.259 ALDH1A1 216 broad.mit.edu 37 9 75555148 75555148 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:75555148C>T uc004ajd.2 - 2 140 c.87G>A c.(85-87)TGG>TGA p.W29* ALDH1A1_uc011lsh.1_5'UTR NM_000689 NP_000680 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1A1 29 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity ovary(3)|lung(1) 4 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTGAATCATGCCATTCATTGT 0.368 C9orf95 54981 broad.mit.edu 37 9 77681726 77681726 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:77681726T>C uc004aju.2 - 8 1125 c.527A>G c.(526-528)GAC>GGC p.D176G C9orf95_uc004ajs.3_Missense_Mutation_p.D180G|C9orf95_uc004ajr.3_Missense_Mutation_p.D176G|C9orf95_uc004ajt.3_Missense_Mutation_p.D152G NM_017881 NP_060351 Q9NWW6 NRK1_HUMAN nicotinamide riboside kinase 1 isoform 1 176 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|ribosylnicotinamide kinase activity 0 CAAAAAGAGGTCCTCTTCAGA 0.383 PRUNE2 158471 broad.mit.edu 37 9 79322121 79322121 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:79322121T>C uc010mpk.2 - 8 5193 c.5069A>G c.(5068-5070)GAC>GGC p.D1690G NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1690 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ACCGACACTGTCATCATCAGA 0.468 KIF27 55582 broad.mit.edu 37 9 86457221 86457221 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:86457221G>A uc004ana.2 - 17 3796 c.3652C>T c.(3652-3654)CGG>TGG p.R1218W KIF27_uc010mpw.2_Missense_Mutation_p.R1152W|KIF27_uc010mpx.2_Missense_Mutation_p.R1121W NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 1218 Potential. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 TTATGATCCCGGCTGGTTTTC 0.378 CENPP 401541 broad.mit.edu 37 9 95099824 95099824 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:95099824T>C uc004arz.2 + 3 831 c.291T>C c.(289-291)AGT>AGC p.S97S CENPP_uc010mqx.2_5'UTR|CENPP_uc004ary.1_Silent_p.S97S NM_001012267 NP_001012267 Q6IPU0 CENPP_HUMAN centromere protein P 97 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm ovary(2) 2 GCTTTACAGGTATTAGAAAAG 0.294 BICD2 23299 broad.mit.edu 37 9 95481509 95481509 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:95481509C>T uc004aso.1 - 5 1475 c.1418G>A c.(1417-1419)CGC>CAC p.R473H BICD2_uc004asp.1_Missense_Mutation_p.R473H NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 473 Potential. microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 AGCCTCATAGCGGCCCTTCTC 0.682 ZNF484 83744 broad.mit.edu 37 9 95610559 95610559 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:95610559G>T uc004asu.1 - 5 659 c.510C>A c.(508-510)TCC>TCA p.S170S ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.S172S|ZNF484_uc010mrb.1_Silent_p.S134S|ZNF484_uc004asv.1_Silent_p.S134S NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTTTTCTTGAGGAAACCAGGT 0.353 FGD3 89846 broad.mit.edu 37 9 95784667 95784667 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:95784667C>G uc004asw.2 + 14 2181 c.1553C>G c.(1552-1554)GCA>GGA p.A518G FGD3_uc004asx.2_Missense_Mutation_p.A518G|FGD3_uc004asz.2_Missense_Mutation_p.A518G|FGD3_uc011luc.1_Missense_Mutation_p.A121G NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 518 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 TCGGGTGCAGCAGGGGTAAGT 0.612 TDRD7 23424 broad.mit.edu 37 9 100245161 100245161 + Missense_Mutation SNP G G A rs142092319 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:100245161G>A uc004axj.2 + 15 2668 c.2443G>A c.(2443-2445)GCA>ACA p.A815T TDRD7_uc011lux.1_Missense_Mutation_p.A741T|TDRD7_uc010msp.1_Missense_Mutation_p.A67T|TDRD7_uc011luy.1_Missense_Mutation_p.A135T NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 815 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) CAGAGGGATCGCACATGTTTA 0.363 ANKS6 203286 broad.mit.edu 37 9 101552841 101552841 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:101552841T>C uc004ayu.2 - 2 428 c.407A>G c.(406-408)GAT>GGT p.D136G ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 136 ANK 3. ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) GGCATTGACATCAGCCCCGTG 0.602 COL15A1 1306 broad.mit.edu 37 9 101787222 101787222 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:101787222T>C uc004azb.1 + 15 2127 c.1921T>C c.(1921-1923)TTC>CTC p.F641L NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 641 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) AACTGATGTTTTCATGGGACC 0.567 KIAA0368 23392 broad.mit.edu 37 9 114137450 114137450 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:114137450G>A uc004bfe.1 - 39 4587 c.4587C>T c.(4585-4587)GGC>GGT p.G1529G NM_001080398 NP_001073867 KIAA0368 protein 0 GAACTAGCTCGCCCAGCACTG 0.408 KIAA1958 158405 broad.mit.edu 37 9 115421992 115421992 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:115421992G>A uc004bgf.1 + 4 1969 c.1794G>A c.(1792-1794)ACG>ACA p.T598T KIAA1958_uc011lwx.1_Silent_p.T626T NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 598 skin(1) 1 TTGCCCGGACGGACAGCGTCA 0.582 RGS3 5998 broad.mit.edu 37 9 116246469 116246469 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:116246469G>A uc004bhq.2 + 7 786 c.577G>A c.(577-579)GTT>ATT p.V193I RGS3_uc004bhr.2_Missense_Mutation_p.V81I|RGS3_uc004bhs.2_Missense_Mutation_p.V83I NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 193 C2. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 GACGCAGACCGTTCCAGACTG 0.498 TNC 3371 broad.mit.edu 37 9 117786296 117786296 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:117786296G>A uc004bjj.3 - 27 6813 c.6451C>T c.(6451-6453)CGT>TGT p.R2151C TNC_uc010mvf.2_Missense_Mutation_p.R1878C NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 2151 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 AGGTTGACACGGTGACAGTTC 0.547 ASTN2 23245 broad.mit.edu 37 9 119188284 119188284 + Missense_Mutation SNP C C T rs139072409 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:119188284C>T uc004bjs.1 - 23 3967 c.3866G>A c.(3865-3867)CGC>CAC p.R1289H ASTN2_uc004bjr.1_Missense_Mutation_p.R1285H|ASTN2_uc004bjt.1_Missense_Mutation_p.R1238H|ASTN2_uc004bjp.1_Missense_Mutation_p.R382H|ASTN2_uc004bjq.1_Missense_Mutation_p.R341H|ASTN2_uc011lxr.1_Missense_Mutation_p.R341H|ASTN2_uc011lxs.1_Missense_Mutation_p.R341H|ASTN2_uc011lxt.1_Missense_Mutation_p.R341H|ASTN2_uc004bjo.1_Missense_Mutation_p.R70H NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1289 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TGTTTCCACGCGGCTCTGGAT 0.582 OR1L8 138881 broad.mit.edu 37 9 125330568 125330568 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:125330568G>C uc004bmp.1 - 1 189 c.189C>G c.(187-189)TTC>TTG p.F63L NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 GAAAACTCAAGAAGAAATACA 0.458 RABGAP1 23637 broad.mit.edu 37 9 125748541 125748541 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:125748541G>A uc011lzh.1 + 4 567 c.433G>A c.(433-435)GTA>ATA p.V145I RABGAP1_uc004bnl.3_RNA|RABGAP1_uc004bnm.1_Missense_Mutation_p.V145I NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 145 PID. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 TGAGGACAGCGTAGTTTTCAG 0.423 CRB2 286204 broad.mit.edu 37 9 126125190 126125190 + Silent SNP C C T rs138658467 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:126125190C>T uc004bnx.1 + 2 233 c.141C>T c.(139-141)TGC>TGT p.C47C CRB2_uc004bnw.1_Silent_p.C47C NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 47 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CAGACCCGTGCGCTCCAGGGA 0.652 NR6A1 2649 broad.mit.edu 37 9 127495601 127495601 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:127495601A>G uc004bor.1 - 2 306 c.128T>C c.(127-129)CTT>CCT p.L43P NR6A1_uc004boq.1_Missense_Mutation_p.L43P|NR6A1_uc010mwq.1_Missense_Mutation_p.L43P NM_033334 NP_201591 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 43 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GCCTGGGTCAAGCTCTGCCAA 0.333 RABEPK 10244 broad.mit.edu 37 9 127994881 127994881 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:127994881T>C uc004bpi.2 + 8 856 c.683T>C c.(682-684)ATG>ACG p.M228T RABEPK_uc004bpj.2_Missense_Mutation_p.M177T|RABEPK_uc004bpk.2_Missense_Mutation_p.M228T|RABEPK_uc004bpl.1_Missense_Mutation_p.M177T|RABEPK_uc004bpm.2_Missense_Mutation_p.M228T NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 228 Kelch 4. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 GCAGGTGACATGAAATGGCAG 0.483 ST6GALNAC6 30815 broad.mit.edu 37 9 130656852 130656852 + Missense_Mutation SNP C C T rs139501224 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:130656852C>T uc004bso.1 - 4 355 c.236G>A c.(235-237)CGA>CAA p.R79Q ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.R45Q|ST6GALNAC6_uc011man.1_Missense_Mutation_p.D15N|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.R79Q|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.R45Q|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.R45Q|ST6GALNAC6_uc010mxp.1_RNA NM_013443 NP_038471 Q969X2 SIA7F_HUMAN sialytransferase 7F 79 Lumenal (Potential). protein glycosylation integral to Golgi membrane|plasma membrane 0 GTTGACAGGTCGGCGGCTACG 0.577 WDR34 89891 broad.mit.edu 37 9 131399202 131399202 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:131399202G>A uc004bvq.1 - 3 664 c.540C>T c.(538-540)TAC>TAT p.Y180Y WDR34_uc004bvs.1_Silent_p.Y171Y|WDR34_uc004bvr.1_Silent_p.Y180Y|WDR34_uc011mbi.1_Silent_p.Y63Y NM_052844 NP_443076 Q96EX3 WDR34_HUMAN WD repeat domain 34 180 cytoplasm central_nervous_system(2)|skin(1) 3 CTCACCGGCCGTAGGCACAGG 0.642 SET 6418 broad.mit.edu 37 9 131456213 131456213 + Missense_Mutation SNP A A T rs145251942 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:131456213A>T uc004bvt.3 + 7 982 c.741A>T c.(739-741)GAA>GAT p.E247D SET_uc004bvu.3_Missense_Mutation_p.E234D|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.E223D NM_001122821 NP_001116293 Q01105 SET_HUMAN SET translocation (myeloid leukemia-associated) 247 Asp/Glu-rich (highly acidic). DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Myeloproliferative disorder(178;0.204) GBM - Glioblastoma multiforme(294;3.1e-09) aaggagaagaagatgatgatg 0.134 T NUP214 AML SH3GLB2 56904 broad.mit.edu 37 9 131784632 131784632 + Missense_Mutation SNP C C T rs138289691 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:131784632C>T uc004bwv.2 - 2 280 c.134G>A c.(133-135)CGG>CAG p.R45Q SH3GLB2_uc004bww.2_Missense_Mutation_p.R45Q|SH3GLB2_uc004bwx.1_Missense_Mutation_p.R45Q|SH3GLB2_uc011mbm.1_Missense_Mutation_p.R45Q NM_020145 NP_064530 Q9NR46 SHLB2_HUMAN SH3-domain GRB2-like endophilin B2 45 BAR. filopodium assembly|signal transduction cytoplasm|nucleus cytoskeletal adaptor activity|SH3 domain binding 0 GCTGTCTGCCCGGGCCAGAAG 0.597 DOLPP1 57171 broad.mit.edu 37 9 131847046 131847046 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:131847046C>T uc004bxc.2 + 2 204 c.176C>T c.(175-177)ACG>ATG p.T59M DOLPP1_uc004bxd.2_Missense_Mutation_p.T59M|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_5'Flank NM_020438 NP_065171 Q86YN1 DOPP1_HUMAN dolichyl pyrophosphate phosphatase 1 isoform a 59 dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane dolichyldiphosphatase activity skin(1) 1 GAGCTGCACACGGTGAGTCTG 0.612 ASB6 140459 broad.mit.edu 37 9 132400635 132400635 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:132400635T>C uc004byf.1 - 6 866 c.700A>G c.(700-702)ATG>GTG p.M234V ASB6_uc004bye.1_Missense_Mutation_p.M159V|ASB6_uc004byg.1_Silent_p.R197R|ASB6_uc011mbt.1_Missense_Mutation_p.M155V|ASB6_uc010myx.1_Missense_Mutation_p.M205V NM_017873 NP_060343 Q9NWX5 ASB6_HUMAN ankyrin repeat and SOCS box-containing 6 isoform 234 ANK 5. intracellular signal transduction cytoplasm 0 Ovarian(14;0.00556) CGGTTGATCATCTGGGCCTCC 0.617 FIBCD1 84929 broad.mit.edu 37 9 133779552 133779552 + Missense_Mutation SNP C C T rs143570837 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:133779552C>T uc004bzz.2 - 7 1530 c.1285G>A c.(1285-1287)GCC>ACC p.A429T FIBCD1_uc011mcc.1_Missense_Mutation_p.A429T NM_032843 NP_116232 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 429 Fibrinogen C-terminal.|Extracellular (Potential). signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding 0 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GCATAGGAGGCGTGCGCACCG 0.627 PPAPDC3 84814 broad.mit.edu 37 9 134165480 134165480 + Silent SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:134165480C>G uc004cal.2 + 1 400 c.96C>G c.(94-96)GGC>GGG p.G32G NM_032728 NP_116117 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain 32 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(1) 1 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) CCAAGGGGGGCCCGGAGCCCC 0.706 TTF1 7270 broad.mit.edu 37 9 135251548 135251548 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:135251548G>A uc004cbl.2 - 11 2524 c.2472C>T c.(2470-2472)ATC>ATT p.I824I TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Silent_p.I309I NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 824 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) AAAGGTAGTCGATGATCTCTA 0.408 GTF3C4 9329 broad.mit.edu 37 9 135553527 135553527 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:135553527G>A uc010mzv.2 + 2 779 c.521G>A c.(520-522)TGC>TAC p.C174Y GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 174 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) CCCATGGGTTGCGATGCTAAT 0.532 ADAMTS13 11093 broad.mit.edu 37 9 136304557 136304557 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:136304557C>T uc004cdv.3 + 15 2220 c.1776C>T c.(1774-1776)TTC>TTT p.F592F ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Silent_p.F592F|ADAMTS13_uc004cdu.1_Silent_p.F561F|ADAMTS13_uc004cdw.3_Silent_p.F592F|ADAMTS13_uc004cdx.3_Silent_p.F561F|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Silent_p.F262F|ADAMTS13_uc004cds.1_Silent_p.F117F|ADAMTS13_uc004cdr.1_RNA NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 592 Spacer. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGCCTCTCTTCACACACTTGG 0.333 TMEM8C 389827 broad.mit.edu 37 9 136389958 136389958 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:136389958C>T uc011mdk.1 - 1 9 c.9G>A c.(7-9)ACG>ACA p.T3T NM_001080483 NP_001073952 A6NI61 TMM8C_HUMAN transmembrane protein 8C 3 integral to membrane 0 TGGCCACCAGCGTCCCCATGG 0.667 SARDH 1757 broad.mit.edu 37 9 136577755 136577755 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:136577755A>G uc004cep.3 - 10 1448 c.1314T>C c.(1312-1314)CAT>CAC p.H438H SARDH_uc004ceo.2_Silent_p.H438H|SARDH_uc011mdn.1_Silent_p.H438H|SARDH_uc011mdo.1_Silent_p.H270H NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 438 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) TGTCATAGCCATGCATGTCCT 0.617 COL5A1 1289 broad.mit.edu 37 9 137660308 137660308 + Missense_Mutation SNP C C T rs138259992 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:137660308C>T uc004cfe.2 + 25 2667 c.2285C>T c.(2284-2286)CCG>CTG p.P762L NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 762 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GACGGACCCCCGGTGAGTAGC 0.627 NOTCH1 4851 broad.mit.edu 37 9 139407849 139407849 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:139407849A>G uc004chz.2 - 14 2348 c.2348T>C c.(2347-2349)TTC>TCC p.F783S NOTCH1_uc004cia.1_Missense_Mutation_p.F13S NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 783 Extracellular (Potential).|EGF-like 20. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTCACCGCTGAAGCCCTCCCG 0.607 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) NELF 26012 broad.mit.edu 37 9 140344457 140344457 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:140344457C>T uc004cna.2 - 14 1569 c.1337G>A c.(1336-1338)CGC>CAC p.R446H C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.R243H|NELF_uc010nci.2_Missense_Mutation_p.R190H|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.R423H|NELF_uc004cmz.2_Missense_Mutation_p.R444H|NELF_uc004cnc.2_Missense_Mutation_p.R421H|NELF_uc004cnb.2_Missense_Mutation_p.R416H NM_001130969 NP_001124441 Q6X4W1 NELF_HUMAN nasal embryonic LHRH factor isoform a 446 nucleus|plasma membrane 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888) GCTCATCAGGCGGCTCAGCCG 0.622 NLGN4X 57502 broad.mit.edu 37 X 5827153 5827153 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:5827153A>C uc010ndh.2 - 4 1254 c.753T>G c.(751-753)TTT>TTG p.F251L NLGN4X_uc004crp.2_Missense_Mutation_p.F271L|NLGN4X_uc004crq.2_Missense_Mutation_p.F251L|NLGN4X_uc010ndi.2_Missense_Mutation_p.F288L|NLGN4X_uc004crr.2_Missense_Mutation_p.F251L|NLGN4X_uc010ndj.2_Missense_Mutation_p.F251L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 251 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CCCCCGAGCCAAAGATGGTCA 0.577 PHKA2 5256 broad.mit.edu 37 X 18913264 18913264 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:18913264T>C uc004cyv.3 - 31 3758 c.3328A>G c.(3328-3330)ACC>GCC p.T1110A PHKA2_uc004cyu.3_Missense_Mutation_p.T416A|PHKA2_uc010nfe.1_Missense_Mutation_p.T142A|PHKA2_uc010nff.1_RNA NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1110 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) ACCTCTCGGGTCGTCGAGGAT 0.532 ZFX 7543 broad.mit.edu 37 X 24229411 24229411 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:24229411A>G uc004dbf.2 + 9 2594 c.2336A>G c.(2335-2337)GAG>GGG p.E779G ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Missense_Mutation_p.E818G|ZFX_uc010nfz.2_Missense_Mutation_p.E435G NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 779 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 CACCGGTGTGAGTACTGCAAG 0.448 MAGEB1 4112 broad.mit.edu 37 X 30268697 30268697 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:30268697C>T uc004dcc.2 + 4 407 c.87C>T c.(85-87)CAC>CAT p.H29H MAGEB1_uc004dcd.2_Silent_p.H29H|MAGEB1_uc004dce.2_Silent_p.H29H NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 29 0 AGGTTGCTCACGCCACTGCAG 0.602 DMD 1756 broad.mit.edu 37 X 31164461 31164461 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:31164461C>T uc004dda.1 - 76 11112 c.10868G>A c.(10867-10869)AGC>AAC p.S3623N DMD_uc004dcq.1_Missense_Mutation_p.S894N|DMD_uc004dcr.1_Missense_Mutation_p.S1043N|DMD_uc004dcs.1_Missense_Mutation_p.S1053N|DMD_uc004dct.1_Missense_Mutation_p.S1163N|DMD_uc004dcu.1_Missense_Mutation_p.S1163N|DMD_uc004dcv.1_Missense_Mutation_p.S1150N|DMD_uc004dcw.2_Missense_Mutation_p.S2279N|DMD_uc004dcx.2_Missense_Mutation_p.S2282N|DMD_uc004dcz.2_Missense_Mutation_p.S3500N|DMD_uc004dcy.1_Missense_Mutation_p.S3619N|DMD_uc004ddb.1_Missense_Mutation_p.S3615N|DMD_uc004dcm.1_Missense_Mutation_p.S555N|DMD_uc004dcn.1_Missense_Mutation_p.S542N|DMD_uc004dco.1_Missense_Mutation_p.S555N|DMD_uc004dcp.1_Missense_Mutation_p.S542N|DMD_uc011mkb.1_Missense_Mutation_p.S445N NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3623 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGGCTGACTGCTGTCGGACCT 0.493 CXorf36 79742 broad.mit.edu 37 X 45051067 45051067 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:45051067G>T uc004dgg.2 - 2 502 c.427C>A c.(427-429)CGT>AGT p.R143S CXorf36_uc004dgi.3_Missense_Mutation_p.R143S NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN hypothetical protein LOC79742 isoform 1 143 extracellular region lung(1) 1 CGCAGGACACGCTCAATGCTG 0.557 SLC9A7 84679 broad.mit.edu 37 X 46513103 46513103 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:46513103G>A uc004dgu.1 - 8 1093 c.1085C>T c.(1084-1086)GCG>GTG p.A362V NM_032591 NP_115980 Q96T83 SL9A7_HUMAN solute carrier family 9, member 7 362 Helical; (Potential). regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity ovary(2) 2 GAAGAACAGCGCCGTCTCCAG 0.527 CDK16 5127 broad.mit.edu 37 X 47085414 47085414 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:47085414G>A uc004dho.2 + 8 1176 c.780G>A c.(778-780)ATG>ATA p.M260I CDK16_uc011mli.1_Missense_Mutation_p.M266I|CDK16_uc011mlj.1_Missense_Mutation_p.M260I|CDK16_uc011mlk.1_Missense_Mutation_p.M260I|CDK16_uc011mll.1_Missense_Mutation_p.M334I NM_006201 NP_006192 Q00536 CDK16_HUMAN PCTAIRE protein kinase 1 isoform 1 260 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1) 1 TCATCAACATGCACAACGTGA 0.542 MAGED1 9500 broad.mit.edu 37 X 51638686 51638686 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:51638686A>G uc004dpm.2 + 3 678 c.583A>G c.(583-585)ACC>GCC p.T195A MAGED1_uc004dpn.2_Missense_Mutation_p.T251A|MAGED1_uc004dpo.2_Missense_Mutation_p.T195A NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 195 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) AACAGCTGATACCCAGACCCA 0.517 Multiple Myeloma(10;0.10) SSX7 280658 broad.mit.edu 37 X 52677309 52677309 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:52677309A>G uc004dqx.1 - 6 625 c.466_splice c.e6+1 p.G156_splice NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding skin(1) 1 Ovarian(276;0.236) CTTTCCTCTTACCGGATGTCT 0.537 LAS1L 81887 broad.mit.edu 37 X 64749749 64749749 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:64749749A>G uc004dwa.1 - 5 596 c.524T>C c.(523-525)TTT>TCT p.F175S LAS1L_uc004dwc.1_Missense_Mutation_p.F175S|LAS1L_uc004dwd.1_Missense_Mutation_p.F133S NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 175 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 ATCCAGGACAAAGTAGCAGCC 0.572 MAGEE1 57692 broad.mit.edu 37 X 75650564 75650564 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:75650564C>T uc004ecm.1 + 1 2448 c.2241C>T c.(2239-2241)AGC>AGT p.S747S NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 747 Interaction with DTNA (By similarity).|MAGE 2. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GATTGGAGAGCAAGGCAAGGA 0.468 PGAM4 441531 broad.mit.edu 37 X 77224579 77224579 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:77224579T>C uc004ecy.1 - 1 557 c.557A>G c.(556-558)CAT>CGT p.H186R ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron NM_001029891 NP_001025062 Q8N0Y7 PGAM4_HUMAN bisphosphoglycerate mutase 4 186 By similarity. glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 GCTGTTGCCATGGGCTGCAAT 0.512 CYLC1 1538 broad.mit.edu 37 X 83141586 83141586 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:83141586G>T uc004eei.1 + 5 1971 c.1950G>T c.(1948-1950)CTG>CTT p.L650L NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 650 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 TTCATAAGCTGCTTTAAAGAA 0.388 ARL13A 392509 broad.mit.edu 37 X 100243452 100243452 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:100243452G>C uc004ego.2 + 8 946 c.830G>C c.(829-831)AGG>ACG p.R277T ARL13A_uc011mrf.1_Missense_Mutation_p.R277T|ARL13A_uc010nng.2_Intron NM_001012990 NP_001013008 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13 isoform a 277 GTP binding ovary(1) 1 GAATGTTCTAGGAGAATGAGA 0.373 BHLHB9 80823 broad.mit.edu 37 X 102004167 102004167 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:102004167G>A uc010nog.2 + 4 815 c.244G>A c.(244-246)GGC>AGC p.G82S BHLHB9_uc011mrq.1_Missense_Mutation_p.G82S|BHLHB9_uc011mrr.1_Missense_Mutation_p.G82S|BHLHB9_uc011mrs.1_Missense_Mutation_p.G82S|BHLHB9_uc011mrt.1_Missense_Mutation_p.G82S|BHLHB9_uc004ejo.2_Missense_Mutation_p.G82S|BHLHB9_uc011mru.1_Missense_Mutation_p.G82S|BHLHB9_uc011mrv.1_Missense_Mutation_p.G82S NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 82 cytoplasm|nucleus binding ovary(2) 2 TAAGACTCTGGGCAAAGCCAT 0.517 C1GALT1C1 29071 broad.mit.edu 37 X 119760722 119760722 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:119760722G>A uc004esy.2 - 3 647 c.300C>T c.(298-300)TTC>TTT p.F100F C1GALT1C1_uc004esz.2_Silent_p.F100F NM_152692 NP_689905 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 100 Lumenal (Potential). integral to membrane 0 TTTCAGAACTGAAGAACTCTG 0.358 THOC2 57187 broad.mit.edu 37 X 122759791 122759791 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:122759791T>A uc004etu.2 - 25 3061 c.3029A>T c.(3028-3030)AAT>ATT p.N1010I THOC2_uc004etw.1_5'Flank NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1010 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TGTGGAAAAATTTGGAGTTTT 0.313 ODZ1 10178 broad.mit.edu 37 X 123695633 123695633 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:123695633T>C uc004euj.2 - 14 2386 c.2322A>G c.(2320-2322)CGA>CGG p.R774R ODZ1_uc011muj.1_Silent_p.R773R|ODZ1_uc010nqy.2_Silent_p.R774R NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 774 EGF-like 8.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CCAGGGTACATCGTCCATTTC 0.478 XPNPEP2 7512 broad.mit.edu 37 X 128896746 128896746 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:128896746G>T uc004eut.1 + 19 1984 c.1740G>T c.(1738-1740)AAG>AAT p.K580N NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 580 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 CAAAGACCAAGGTAAACTGCC 0.527 AIFM1 9131 broad.mit.edu 37 X 129272624 129272624 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:129272624G>A uc004evg.2 - 9 1089 c.911C>T c.(910-912)ACG>ATG p.T304M AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Missense_Mutation_p.T304M|AIFM1_uc004evh.2_Missense_Mutation_p.T300M|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA NM_004208 NP_004199 O95831 AIFM1_HUMAN programmed cell death 8 isoform 1 304 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding ovary(4)|central_nervous_system(1) 5 ACCGATAATCGTAATTGATTT 0.438 USP26 83844 broad.mit.edu 37 X 132161368 132161368 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:132161368C>T uc010nrm.1 - 6 1351 c.881G>A c.(880-882)TGC>TAC p.C294Y USP26_uc011mvf.1_Missense_Mutation_p.C294Y NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 294 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) GAGGCCGTGGCATATTTTCTC 0.353 FAM127A 8933 broad.mit.edu 37 X 134166475 134166475 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:134166475G>A uc004eyd.2 + 1 143 c.62G>A c.(61-63)CGT>CAT p.R21H uc004eye.1_RNA NM_001078171 NP_001071639 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 21 0 Acute lymphoblastic leukemia(192;0.000127) CCTGCGACGCGTCGCTGGAGG 0.637 ZNF449 203523 broad.mit.edu 37 X 134494414 134494414 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:134494414C>T uc004eys.2 + 5 1135 c.970C>T c.(970-972)CGA>TGA p.R324* ZNF449_uc004eyt.2_Nonsense_Mutation_p.R204*|ZNF449_uc004eyu.2_Nonsense_Mutation_p.R130* NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 324 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) GAAACCTCACCGATGTCCTCA 0.483 GPR112 139378 broad.mit.edu 37 X 135494507 135494507 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:135494507C>T uc004ezu.1 + 24 9310 c.9019C>T c.(9019-9021)CGA>TGA p.R3007* GPR112_uc010nsb.1_Nonsense_Mutation_p.R2802* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 3007 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TGGGTGGTTGCGATTGGATAA 0.398 GABRA3 2556 broad.mit.edu 37 X 151366116 151366116 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:151366116C>T uc010ntk.1 - 8 1160 c.920G>A c.(919-921)CGT>CAT p.R307H NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 307 Helical; (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|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAAGACTGTACGGGCAGGAAC 0.463 PNMA3 29944 broad.mit.edu 37 X 152226635 152226635 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:152226635G>A uc004fhc.2 + 2 1559 c.1223G>A c.(1222-1224)CGG>CAG p.R408Q PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN paraneoplastic cancer-testis-brain antigen 408 Arg-rich. apoptosis nucleolus nucleic acid binding|zinc ion binding skin(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCAAGAAAACGGAAACGCCAC 0.582 HAUS7 55559 broad.mit.edu 37 X 152721027 152721027 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:152721027C>T uc004fho.1 - 8 1491 c.933G>A c.(931-933)ACG>ACA p.T311T HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Silent_p.T311T|HAUS7_uc004fhp.1_RNA NM_017518 NP_059988 Q99871 HAUS7_HUMAN HAUS augmin-like complex subunit 7 311 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding 0 GATTCTGGTGCGTGGCCTGGA 0.602 ANO9 338440 broad.mit.edu 37 11 429820 429821 + Splice_Site INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:429820_429821insG uc001lpi.2 - 10 857 c.772_splice c.e10-1 p.L258_splice ANO9_uc001lph.2_5'UTR|ANO9_uc010qvv.1_Splice_Site_p.L114_splice NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 gtgggtgagctgggggggtgat 0.267 UBE2Q1 55585 broad.mit.edu 37 1 154524458 154524459 + Splice_Site DEL GA GA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:154524457_154524458TGA>T uc001fff.1 - 9 1058 c.967_splice c.e9-1 p.D323_splice NM_017582 NP_060052 Q7Z7E8 UB2Q1_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA. 323 ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AAAGTTATCCTGAGAGAGAGAG 0.574 AHCTF1 25909 broad.mit.edu 37 1 247062817 247062817 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:247062816_247062816TA>T uc001ibv.2 - 11 1557 c.1460_splice c.e11-1 p.D487_splice AHCTF1_uc009xgs.1_Splice_Site NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA. 478 Necessary for cytoplasmic localization (By similarity). cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AAGTGGCATCTAAAAAAAAGA 0.308 PREPL 9581 broad.mit.edu 37 2 44550553 44550553 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:44550552_44550552TA>T uc002ruf.3 - 11 2706 c.1747_splice c.e11-1 p.A583_splice PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA. 583 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GAAAGGTGCCTAAAAAAAAGG 0.333 PSME4 23198 broad.mit.edu 37 2 54167140 54167140 + Splice_Site DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:54167139_54167139TG>T uc002rxp.2 - 4 557 c.501_splice c.e4-1 p.N167_splice PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 167 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCTACAGAACTGGGGGGGGAA 0.348 MTIF2 4528 broad.mit.edu 37 2 55490777 55490777 + Splice_Site DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:55490776_55490776CT>C uc002ryn.3 - 5 956 c.219_splice c.e5+1 p.K73_splice MTIF2_uc010yox.2_Splice_Site|MTIF2_uc002ryo.3_Splice_Site_p.K73_splice|MTIF2_uc002ryp.1_Splice_Site NM_001005369 NP_002444 P46199 IF2M_HUMAN Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 73 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 CTGTAACTACCTTTTTTGTTA 0.507 ANAPC1 64682 broad.mit.edu 37 2 112614258 112614259 + Splice_Site INS - - T rs4067742 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:112614257_112614258C>CT uc002thi.3 - 13 1697 c.1450_splice c.e13-1 p.K484_splice NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 484 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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 K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TGTCTATTTTCTAAAAAAACAA 0.361 SLC35F5 80255 broad.mit.edu 37 2 114480774 114480774 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:114480773_114480773TA>T uc002tku.1 - 13 1665 c.1251_splice c.e13-1 p.W417_splice SLC35F5_uc002tkt.3_Splice_Site|MIR4782_uc021vmz.1_5'Flank NM_025181 NP_079457 Q8WV83 S35F5_HUMAN Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA. 417 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 AAGCAGCCCCtaaaaaaaaga 0.338 FAM55C 91775 broad.mit.edu 37 3 101525973 101525973 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:101525972_101525972TA>T uc003dvn.3 + 6 1559 c.922_splice c.e6+2 p.E308_splice FAM55C_uc010hpn.3_Splice_Site_p.E308_splice NM_145037 NP_659474 Q969Y0 FA55C_HUMAN Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA. 308 extracellular region breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 32 GAATAAAAGGTAAAAAAAAGA 0.353 POLQ 10721 broad.mit.edu 37 3 121238933 121238933 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:121238932_121238932TA>T uc003eee.4 - 9 1385 c.1256_splice c.e9-1 p.G419_splice NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 419 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AAGTAAGACCTAAAAAAAGGA 0.373 DNA polymerases (catalytic subunits) MYLK 4638 broad.mit.edu 37 3 123368044 123368044 + Splice_Site DEL G G - rs138786404 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:123368043_123368043TG>T uc003ego.3 - 25 4571 c.4289_splice c.e25-1 p.E1430_splice MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1430 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCA 0.622 WDFY3 23001 broad.mit.edu 37 4 85741342 85741342 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:85741341_85741341TA>T uc003hpd.3 - 12 2000 c.1592_splice c.e12-1 p.G531_splice WDFY3_uc003hpf.3_Splice_Site_p.G531_splice NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 531 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTGAGTCCCCTAAAAAAAGGT 0.323 SPOCK3 50859 broad.mit.edu 37 4 167921617 167921617 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:167921616_167921616TA>T uc011cjq.1 - 3 329 c.272_splice c.e3-1 p.A91_splice SPOCK3_uc021xuf.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjs.1_Splice_Site_p.A31_splice|SPOCK3_uc003irj.1_Splice_Site_p.A79_splice|SPOCK3_uc011cjt.1_Splice_Site|SPOCK3_uc011cjp.2_Splice_Site_p.A79_splice|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Splice_Site_p.A79_splice|SPOCK3_uc011cjw.1_Splice_Site NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 82 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GATCTAAAGCTAAAAAAATTG 0.338 DDX60 55601 broad.mit.edu 37 4 169182016 169182016 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:169182015_169182015CA>C uc003irp.3 - 25 3690 c.3398_splice c.e25+1 p.L1133_splice NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 1133 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AAATAACTTACAAAAAAAATA 0.388 SLCO6A1 133482 broad.mit.edu 37 5 101755728 101755728 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:101755727_101755727TA>T uc003knn.3 - 8 1449 c.1277_splice c.e8-1 p.G426_splice SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 426 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AAACAAGTCCTAAAAAAAAGG 0.343 KIAA1324L 222223 broad.mit.edu 37 7 86542523 86542523 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:86542522_86542522TA>T uc011kha.2 - 14 1917 c.1732_splice c.e14-1 p.N578_splice KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA. 578 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) CCGTCTATTCTAAAAAAAAGA 0.413 NOTCH1 4851 broad.mit.edu 37 9 139396543 139396543 + Splice_Site DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:139396542_139396542TG>T uc004chz.3 - 29 5385 c.5385_splice c.e29-1 p.K1795_splice NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 1795 Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TTCAGGGGCCTGGGGGGTGAG 0.672 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) ATL3 25923 broad.mit.edu 37 11 63420050 63420050 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:63420049_63420049TA>T uc001nxk.1 - 4 682 c.406_splice c.e4-1 p.V136_splice ATL3_uc010rms.1_Splice_Site_p.V118_splice NM_015459 NP_056274 Q6DD88 ATLA3_HUMAN Homo sapiens atlastin GTPase 3 (ATL3), mRNA. 136 Golgi organization|endoplasmic reticulum organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 AACTGCAACCTAAAAAAAAGG 0.373 DDX6 1656 broad.mit.edu 37 11 118629614 118629615 + Splice_Site INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:118629613_118629614T>TG uc001pub.2 - 9 1226 c.865_splice c.e9-1 p.N289_splice DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice NM_004397 NP_004388 P26196 DDX6_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA. 289 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL GUCY2C 2984 broad.mit.edu 37 12 14796510 14796510 + Splice_Site DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:14796509_14796509CT>C uc001rcd.3 - 17 2067 c.1930_splice c.e17+1 p.D644_splice NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 644 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ATTACAGACCCTTTTTTGGAG 0.388 SENP1 29843 broad.mit.edu 37 12 48477548 48477548 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:48477547_48477547TA>T uc001rqx.3 - 6 827 c.381_splice c.e6-1 p.S127_splice SENP1_uc001rqw.3_Splice_Site_p.S127_splice|SENP1_uc001rqy.3_Splice_Site|SENP1_uc001rqz.3_Splice_Site|SENP1_uc009zkx.3_Splice_Site_p.S127_splice NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA. 127 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus SUMO-specific protease activity|endopeptidase activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) GATAATCCACTAAAAAAAGAG 0.303 NAA25 80018 broad.mit.edu 37 12 112513482 112513482 + Splice_Site DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:112513481_112513481CT>C uc001ttm.3 - 8 834 c.776_splice c.e8+1 p.N259_splice NAA25_uc001ttn.4_Splice_Site|NAA25_uc009zvz.2_Splice_Site_p.N231_splice|NAA25_uc009zwa.2_Splice_Site_p.N259_splice NM_024953 NP_079229 Q14CX7 NAA25_HUMAN Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA. 259 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 CTTTTACTCACTTTTTTAGTA 0.423 DZIP1 22873 broad.mit.edu 37 13 96241464 96241464 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:96241463_96241463TA>T uc001vmk.3 - 19 2826 c.1974_splice c.e19-1 p.K658_splice DZIP1_uc001vmj.3_Splice_Site_p.K134_splice|DZIP1_uc001vml.3_Splice_Site_p.K639_splice NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 658 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TTCTTAATTCTAAAAAAACAA 0.279 DOCK9 23348 broad.mit.edu 37 13 99536156 99536156 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:99536155_99536155TA>T uc001vnt.2 - 22 2441 c.2386_splice c.e22-1 p.H796_splice DOCK9_uc001vnw.2_Splice_Site_p.H795_splice|DOCK9_uc021rlw.1_Splice_Site_p.H795_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.H796_splice|DOCK9_uc010tis.1_Splice_Site_p.H795_splice|DOCK9_uc010tit.1_Splice_Site_p.H796_splice|DOCK9_uc010afu.1_Splice_Site_p.H642_splice NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA. 796 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACCATAATGCTAAAAAAAATA 0.403 ADAD2 161931 broad.mit.edu 37 16 84227613 84227613 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:84227612_84227612GA>G uc002fhq.2 + 2 533 c.419_splice c.e2-1 p.G140_splice ADAD2_uc002fhr.2_Intron|AK123582_uc002fhs.1_3'UTR NM_139174 NP_631913 Q8NCV1 ADAD2_HUMAN Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA. 140 DRBM. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 TGTTTCATAGGAAAAGTGTTC 0.438 UBTF 7343 broad.mit.edu 37 17 42290653 42290653 + Splice_Site DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:42290652_42290652TG>T uc010czs.3 - 6 771 c.475_splice c.e6-1 p.M159_splice UBTF_uc002igc.3_Splice_Site_p.M159_splice|UBTF_uc002igd.3_Splice_Site_p.M159_splice|UBTF_uc010czt.3_Splice_Site_p.M159_splice|UBTF_uc002ige.2_Splice_Site_p.M159_splice NM_014233 NP_055048 P17480 UBF1_HUMAN Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA. 159 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) ATATTTCATCTGGGGGGAGGA 0.597 PSTPIP2 9050 broad.mit.edu 37 18 43595906 43595906 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:43595905_43595905TA>T uc002lbp.4 - 4 309 c.213_splice c.e4-1 p.N71_splice PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice NM_024430 NP_077748 Q9H939 PPIP2_HUMAN Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA. 71 FCH. membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 TTCAGGGTGCTAAAAAAAACA 0.383 LMAN1 3998 broad.mit.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:57013284_57013284CT>C uc002lhz.3 - 8 855 c.823_splice c.e8-1 p.P275_splice NM_005570 NP_005561 P49257 LMAN1_HUMAN Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA. 275 ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) CTGGTGTGGGCTTTTTTTTGG 0.294 PDCD2L 84306 broad.mit.edu 37 19 34904755 34904755 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:34904754_34904754TA>T uc002nvj.3 + 5 830 c.797_splice c.e5+2 p.R266_splice NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN Homo sapiens programmed cell death 2-like (PDCD2L), mRNA. 266 cytoplasm breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GATTTTGAGGTAAAAAAAGGC 0.328 ZFX 7543 broad.mit.edu 37 X 24225595 24225597 + Splice_Site DEL AAG AAG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:24225594_24225596TAAG>T uc011mjv.2 + 6 1162 c.913_splice c.e6+2 p.G305_splice ZFX_uc004dbd.2_Splice_Site_p.G266_splice|ZFX_uc004dbf.3_Splice_Site_p.G266_splice|ZFX_uc004dbe.3_Splice_Site_p.G266_splice|ZFX_uc022bua.1_Splice_Site_p.G266_splice|ZFX_uc010nfx.2_Splice_Site_p.G37_splice|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_5'Flank NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 ATGACTTAGGTAAGAAGAAGTGT 0.389 ANO9 338440 broad.mit.edu 37 11 429820 429821 + Splice_Site INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:429820_429821insG uc001lpi.2 - 10 857 c.772_splice c.e10-1 p.L258_splice ANO9_uc001lph.2_5'UTR|ANO9_uc010qvv.1_Splice_Site_p.L114_splice NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 gtgggtgagctgggggggtgat 0.267 MTL5 9633 broad.mit.edu 37 11 68517872 68517872 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:68517872delC uc001ooc.2 - 2 397 c.257delG c.(256-258)GGCfs p.G86fs MTL5_uc001ood.1_Frame_Shift_Del_p.G86fs|MTL5_uc009ysi.1_Frame_Shift_Del_p.G86fs|MTL5_uc001ooe.2_Frame_Shift_Del_p.G86fs NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 86 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GTCGCTGTCGCCCCCCGCGAG 0.751 DDX18 8886 broad.mit.edu 37 2 118583908 118583909 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:118583908_118583909insT uc002tlh.1 + 11 1684_1685 c.1585_1586insT c.(1585-1587)ATTfs p.I529fs NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 529 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 TGCCTTGCTCATTTTGCGCCCA 0.436 IL2RG 3561 broad.mit.edu 37 X 70327614 70327614 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:70327614delG uc004dyw.1 - 8 1096 c.1082delC c.(1081-1083)CCAfs p.P361fs CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Frame_Shift_Del_p.P90fs|IL2RG_uc004dyx.1_Frame_Shift_Del_p.P171fs NM_000206 NP_000197 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma precursor 361 Cytoplasmic (Potential). immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding pancreas(1) 1 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GGTGTAACATGGGGGGGCCCA 0.582 Severe_Combined_Immunodeficiency_X-linked MTOR 2475 broad.mit.edu 37 1 11273547 11273548 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:11273546_11273547A>AC uc001asd.3 - 20 3315_3316 c.3194_3195T>GT c.(3193-3195)ggtfs p.G1065fs NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 1065 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GCTTAAATTCACCCCCAAGAGC 0.485 C1QA 712 broad.mit.edu 37 1 22965531 22965531 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:22965530_22965530AC>A uc001bfy.3 + 2 453 c.368_368AC>A c.(367-369)aacfs p.N123fs NM_015991 NP_057075 P02745 C1QA_HUMAN Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA. 123 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATTCGGCGGAACCCCCCAATG 0.622 C1orf135 79000 broad.mit.edu 37 1 26163989 26163992 + Frame_Shift_Del DEL CTTT CTTT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:26163988_26163991CCTTT>C uc001bkw.1 - 1 133_136 c.133_136AAAGG>G c.(133-138)aaggctfs p.K45fs NM_024037 NP_076942 Q9H7T9 CA135_HUMAN Homo sapiens chromosome 1 open reading frame 135 (C1orf135), mRNA. 45 NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) TAAATATTAGCCTTTCTTTCTCCA 0.382 ARID1A 8289 broad.mit.edu 37 1 27101612 27101612 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:27101611_27101611GC>G uc001bmv.1 + 17 5266 c.4893_4893GC>G c.(4891-4893)cagfs p.Q1631fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q1630fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q1414fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q1248fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Q477fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1631 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 SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.M1634fs*14(1)|p.Q1631*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 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) CCCCTGTGCAGCCCCCCATGA 0.572 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" NCDN 23154 broad.mit.edu 37 1 36026092 36026093 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:36026091_36026092C>CT uc001bza.3 + 3 466_467 c.339_340C>CT c.(337-342)tgcttcfs p.C113fs KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Ins_p.C113fs|NCDN_uc001bzc.3_Frame_Shift_Ins_p.C96fs NM_001014839 NP_001014841 Q9UBB6 NCDN_HUMAN Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA. 113 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGCTGGCCTGCTTCTGCAGTGA 0.629 PODN 127435 broad.mit.edu 37 1 53543377 53543377 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:53543376_53543376TC>T uc001cuv.3 + 6 1070 c.902_902TC>T c.(901-903)atcfs p.I301fs PODN_uc010onr.2_Frame_Shift_Del_p.I282fs|PODN_uc010ons.2_Frame_Shift_Del_p.I159fs|PODN_uc001cuw.3_Frame_Shift_Del_p.I282fs NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN Homo sapiens podocan (PODN), transcript variant 1, mRNA. 253 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CTGGAGAAGATCCCCCCGGGG 0.617 PODN 127435 broad.mit.edu 37 1 53544350 53544350 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:53544349_53544349CA>C uc001cuv.3 + 7 1479 c.1311_1311CA>C c.(1309-1311)cacfs p.H437fs PODN_uc010onr.2_Frame_Shift_Del_p.H418fs|PODN_uc010ons.2_Frame_Shift_Del_p.H295fs|PODN_uc001cuw.3_Frame_Shift_Del_p.H418fs NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN Homo sapiens podocan (PODN), transcript variant 1, mRNA. 389 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGATCCTGCACAACCAGATCA 0.632 ANGPTL3 27329 broad.mit.edu 37 1 63063626 63063627 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:63063625_63063626G>GA uc001das.1 + 0 439_440 c.388_389G>GA c.(388-390)gaafs p.E130fs DOCK7_uc001dan.3_Intron|DOCK7_uc001dao.3_Intron|DOCK7_uc001dap.3_Intron|DOCK7_uc001daq.3_Intron|DOCK7_uc009wah.1_Intron NM_014495 NP_055310 Q9Y5C1 ANGL3_HUMAN Homo sapiens angiopoietin-like 3 (ANGPTL3), mRNA. 130 acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1) 13 CCTCCTAGAAGAAAAAATTCTA 0.317 JAK1 3716 broad.mit.edu 37 1 65311293 65311293 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:65311292_65311292AC>A uc001dbu.1 - 14 2268 c.2019_2019GT>T c.(2017-2019)ggtfs p.G673fs JAK1_uc009wam.1_Frame_Shift_Del_p.G673fs|JAK1_uc009wal.1_5'UTR NM_002227 NP_002218 P23458 JAK1_HUMAN Homo sapiens Janus kinase 1 (JAK1), mRNA. 673 Protein kinase 1. 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) GATCCAGAGGACCCCCTTCCA 0.507 Mis ALL PRKACB 5567 broad.mit.edu 37 1 84647913 84647913 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:84647912_84647912GA>G uc001djl.3 + 2 372 c.279_279GA>G c.(277-279)aggfs p.R93fs PRKACB_uc001djj.3_Frame_Shift_Del_p.R46fs|PRKACB_uc001djn.3_Frame_Shift_Del_p.R50fs|PRKACB_uc010oru.2_Frame_Shift_Del_p.R34fs|PRKACB_uc010ort.2_Frame_Shift_Del_p.R53fs|PRKACB_uc001djp.3_Frame_Shift_Del_p.R52fs|PRKACB_uc001djq.3_Frame_Shift_Del_p.R49fs|PRKACB_uc010orv.2_Frame_Shift_Del_p.R33fs|PRKACB_uc001dji.3_Frame_Shift_Del_p.R46fs|PRKACB_uc009wcf.2_Frame_Shift_Del_p.R52fs NM_182948 NP_891993 P22694 KAPCB_HUMAN Homo sapiens protein kinase, cAMP-dependent, catalytic, beta (PRKACB), transcript variant 1, mRNA. 46 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) ATTTTGAAAGGAAAAAAACCC 0.308 PKN2 5586 broad.mit.edu 37 1 89206848 89206848 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:89206847_89206847TA>T uc001dmn.3 + 1 567 c.225_225TA>T c.(223-225)gatfs p.D75fs PKN2_uc010osp.2_Frame_Shift_Del_p.D75fs|PKN2_uc010osq.2_Intron|PKN2_uc009wcv.3_Frame_Shift_Del_p.D75fs NM_006256 NP_006247 Q16513 PKN2_HUMAN Homo sapiens protein kinase N2 (PKN2), mRNA. 75 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TCACAACAGATAAAAAAAGTT 0.308 GBP1 2633 broad.mit.edu 37 1 89523904 89523904 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:89523903_89523903CT>C uc001dmx.2 - 5 866 c.646_646AG>G c.(646-648)gatfs p.D216fs NM_002053 NP_002044 P32455 GBP1_HUMAN Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA. 216 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) AAAGTTTCATCTTTTTGACTG 0.368 GBP7 388646 broad.mit.edu 37 1 89613322 89613323 + Frame_Shift_Ins INS - - C rs138127555 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:89613321_89613322G>GC uc001dna.2 - 7 1432_1433 c.1293_1294C>GC c.(1291-1296)gggcacfs p.G431fs GBP2_uc001dmy.1_Non-coding_Transcript NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN Homo sapiens guanylate binding protein 7 (GBP7), mRNA. 431 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 DPYD 1806 broad.mit.edu 37 1 98165043 98165044 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:98165042_98165043A>AT uc001drv.3 - 5 681_682 c.544_545T>AT c.(544-546)atgfs p.M182fs DPYD_uc010oub.1_Non-coding_Transcript NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 182 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GGCTTCAGACATTTTTTCTGGG 0.426 DBT 1629 broad.mit.edu 37 1 100684226 100684226 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:100684225_100684225GT>G uc001dta.3 - 4 545 c.512_512AC>C c.(511-513)acafs p.T171fs DBT_uc010oug.2_5'UTR|DBT_uc021oqo.1_Frame_Shift_Del_p.T171fs NM_001918 NP_001909 P11182 ODB2_HUMAN Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA. 171 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) AGTTGCCAGTGTTTTTCGGCC 0.388 TRIM33 51592 broad.mit.edu 37 1 114976275 114976277 + In_Frame_Del DEL TTC TTC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:114976274_114976276ATTC>A uc001eew.3 - 4 1087_1089 c.1003_1005GAAT>T c.(1003-1005)aat>T p.N335del TRIM33_uc010ows.2_5'UTR|TRIM33_uc001eex.3_In_Frame_Del_p.N335del NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA. 335 Necessary for oligomerization. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding p.K334delK(2) breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AATGAACATAATTCTTCTTCTCA 0.330 T RET papillary thyroid SV2A 9900 broad.mit.edu 37 1 149884981 149884981 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:149884980_149884980TC>T uc001etg.3 - 1 904 c.413_413GA>A c.(412-414)gagfs p.E138fs SV2A_uc001eth.2_Frame_Shift_Del_p.E138fs NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 138 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.G137W(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TCGTTGTGCCTCCCCCCGGCC 0.637 RPRD2 23248 broad.mit.edu 37 1 150445612 150445612 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:150445611_150445611GC>G uc009wlr.3 + 10 4388 c.4187_4187GC>G c.(4186-4188)ggcfs p.G1396fs RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Frame_Shift_Del_p.G1370fs NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 1396 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AGCAGCAGTGGCCCCCCCTTG 0.617 TNFAIP8L2 79626 broad.mit.edu 37 1 151131333 151131334 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:151131332_151131333G>GC uc021oyl.1 + 0 159_160 c.159_160G>GC c.(157-162)cggcccfs p.R53fs TNFAIP8L2_uc001ewx.2_Frame_Shift_Ins_p.R53fs|SCNM1_uc021oyk.1_Intron NM_024575 NP_078851 Q6P589 TP8L2_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 2 (TNFAIP8L2), mRNA. 53 innate immune response lung(1)|skin(2) 3 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) CGCACAGCCGGCCCCAGGCCCA 0.599 INSRR 3645 broad.mit.edu 37 1 156819062 156819062 + Frame_Shift_Del DEL G G - rs67711891 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:156819061_156819061CG>C uc010pht.2 - 5 1720 c.1421_1421CG>G c.(1420-1422)cgcfs p.R474fs NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 474 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCGTTGGTGCGGGGGTTGAT 0.647 KIRREL 55243 broad.mit.edu 37 1 158058203 158058203 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:158058202_158058202TC>T uc001frn.4 + 7 1406 c.1002_1002TC>T c.(1000-1002)aatfs p.N334fs KIRREL_uc010pib.2_Frame_Shift_Del_p.N234fs|KIRREL_uc009wsq.3_Frame_Shift_Del_p.N170fs|KIRREL_uc001fro.4_Frame_Shift_Del_p.N132fs NM_018240 NP_060710 Q96J84 KIRR1_HUMAN Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA. 334 Ig-like C2-type 4. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GGGTTGGGAATCCCCCCCTCA 0.453 PAPPA2 60676 broad.mit.edu 37 1 176762724 176762725 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:176762723_176762724T>TC uc001gkz.3 + 19 6212_6213 c.5048_5049T>TC c.(5047-5049)atcfs p.I1683fs PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTGTGTGTAATCCCCCCCAGTG 0.470 HMCN1 83872 broad.mit.edu 37 1 186083133 186083133 + Frame_Shift_Del DEL C C - rs140251121 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:186083132_186083132GC>G uc001grq.1 + 72 11382 c.11153_11153GC>G c.(11152-11154)ggcfs p.G3718fs MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 3718 Ig-like C2-type 36. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATAAAGGGGGGCCCCCAGAGC 0.408 PTPN7 5778 broad.mit.edu 37 1 202128473 202128473 + Frame_Shift_Del DEL C C - rs112539145 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:202128472_202128472GC>G uc001gxn.2 - 1 1155 c.59_59GC>C c.(58-60)gcafs p.A20fs PTPN7_uc001gxl.2_Frame_Shift_Del_p.A59fs|PTPN7_uc001gxm.2_Frame_Shift_Del_p.A125fs|PTPN7_uc010ppx.2_Frame_Shift_Del_p.A94fs|PTPN7_uc010ppw.2_5'UTR|PTPN7_uc010ppy.2_Non-coding_Transcript|PTPN7_uc001gxo.1_5'Flank NM_002832 NP_002823 P35236 PTN7_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA. 20 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 GGTCATGGCTGCCCCCAAAGA 0.642 LAMB3 3914 broad.mit.edu 37 1 209790820 209790820 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:209790819_209790819GC>G uc001hhg.3 - 19 3554 c.3164_3164GC>C c.(3163-3165)gcafs p.A1055fs LAMB3_uc009xco.3_Frame_Shift_Del_p.A1055fs|LAMB3_uc001hhh.3_Frame_Shift_Del_p.A1055fs NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 1055 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity p.G1054R(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GACTGCCTCTGCCCCCTGCTG 0.617 PROX1 5629 broad.mit.edu 37 1 214178556 214178556 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:214178555_214178555GT>G uc001hkh.3 + 2 2045 c.1773_1773GT>G c.(1771-1773)atgfs p.M591fs NM_002763 NP_002754 Q92786 PROX1_HUMAN Homo sapiens prospero homeobox 1 (PROX1), mRNA. 591 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CAAAGCTCATGTTTTTTTATA 0.383 AHCTF1 25909 broad.mit.edu 37 1 247062817 247062817 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:247062816_247062816TA>T uc001ibv.2 - 11 1557 c.1460_splice c.e11-1 p.D487_splice AHCTF1_uc009xgs.1_Splice_Site NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA. 478 Necessary for cytoplasmic localization (By similarity). cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AAGTGGCATCTAAAAAAAAGA 0.308 OR14I1 401994 broad.mit.edu 37 1 248844882 248844882 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr1:248844881_248844881TG>T uc001ieu.1 - 0 725 c.725_725CA>A c.(724-726)cagfs p.Q242fs NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA. 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 GACAATGAGCTGGGGGGAGCA 0.463 RPS7 6201 broad.mit.edu 37 2 3625326 3625326 + Frame_Shift_Del DEL A A - rs61730447 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:3625325_3625325GA>G uc002qxw.3 + 4 423 c.317_317GA>G c.(316-318)cgafs p.R106fs RPS7_uc002qxy.3_5'Flank NM_001011 NP_001002 P62081 RS7_HUMAN Homo sapiens ribosomal protein S7 (RPS7), mRNA. 106 Arg/Lys-rich (basic). endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome RNA binding|protein binding|structural constituent of ribosome endometrium(1)|lung(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208) AAGCCAACTCGAAAAAGCCGT 0.343 AGBL5 60509 broad.mit.edu 37 2 27278901 27278902 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:27278900_27278901T>TC uc002rie.3 + 6 1476_1477 c.1259_1260T>TC c.(1258-1260)atcfs p.I420fs AGBL5_uc002rid.3_Frame_Shift_Ins_p.I420fs|AGBL5_uc002rif.3_Non-coding_Transcript NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA. 420 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGATACCATCCCCCCCAAAG 0.515 MTIF2 4528 broad.mit.edu 37 2 55490777 55490777 + Splice_Site DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:55490776_55490776CT>C uc002ryn.3 - 5 956 c.219_splice c.e5+1 p.K73_splice MTIF2_uc010yox.2_Splice_Site|MTIF2_uc002ryo.3_Splice_Site_p.K73_splice|MTIF2_uc002ryp.1_Splice_Site NM_001005369 NP_002444 P46199 IF2M_HUMAN Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 73 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 CTGTAACTACCTTTTTTGTTA 0.507 UGP2 7360 broad.mit.edu 37 2 64111166 64111167 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:64111165_64111166C>CA uc010ypx.2 + 4 547_548 c.540_541C>CA c.(538-543)accaaafs p.T180fs UGP2_uc002scl.3_Frame_Shift_Ins_p.T160fs|UGP2_uc002scm.3_Frame_Shift_Ins_p.T171fs NM_001001521 NP_001001521 Q16851 UGPA_HUMAN Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA. 171 UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process cytosol UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 ATGAAGATACCAAAAAAATACT 0.327 PELI1 57162 broad.mit.edu 37 2 64322001 64322001 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:64322000_64322000TA>T uc002scs.4 - 5 5132 c.1093_1093TA>A c.(1093-1095)agcfs p.S365fs PELI1_uc002sct.4_Frame_Shift_Del_p.S365fs|PELI1_uc002scr.4_Frame_Shift_Del_p.S186fs NM_020651 NP_065702 Q96FA3 PELI1_HUMAN Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA. 365 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CCACACGGGCTAAACGCATGG 0.502 ARHGAP25 9938 broad.mit.edu 37 2 69046341 69046341 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:69046340_69046340AC>A uc010fdg.3 + 8 1508 c.1089_1089AC>A c.(1087-1089)tcafs p.S363fs ARHGAP25_uc010yql.2_Frame_Shift_Del_p.S323fs|ARHGAP25_uc002sev.3_Frame_Shift_Del_p.S356fs|ARHGAP25_uc002sew.3_Frame_Shift_Del_p.S355fs|ARHGAP25_uc002sex.3_Frame_Shift_Del_p.S356fs NM_001007231 NP_001007232 P42331 RHG25_HUMAN Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA. 362 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 TACCCCTGTCACCCCCTGCCC 0.512 MPHOSPH10 10199 broad.mit.edu 37 2 71361201 71361203 + In_Frame_Del DEL GAA GAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:71361200_71361202TGAA>T uc002sht.2 + 2 1243_1245 c.891_893TGAA>T c.(889-894)gctgaa>gcTa p.E300del MPHOSPH10_uc010feb.1_In_Frame_Del_p.E300del NM_005791 NP_005782 O00566 MPP10_HUMAN Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA. 300 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 ATGAAATTGCTGAAGAAGAAGCA 0.350 TMEM150A 129303 broad.mit.edu 37 2 85827121 85827123 + In_Frame_Del DEL GCA GCA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:85827120_85827122CGCA>C uc002spy.2 - 5 497_499 c.288_290TGCG>G c.(286-291)ctgcgc>ctGc p.R97del USP39_uc002sqb.3_5'Flank|TMEM150A_uc002spx.2_In_Frame_Del_p.R13del|TMEM150A_uc002spz.2_In_Frame_Del_p.R44del NM_001031738 NP_001026908 Q86TG1 T150A_HUMAN Homo sapiens transmembrane protein 150A (TMEM150A), transcript variant 1, mRNA. 97 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1) 7 CTGCCCGTAGCGCAGGAGGCAGA 0.650 EIF2AK3 9451 broad.mit.edu 37 2 88882966 88882967 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:88882965_88882966G>GT uc002stc.4 - 9 2047_2048 c.1745_1746C>AC c.(1744-1746)aacfs p.N582fs NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA. 582 ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TATATCCAGAGTTTTTTATGTC 0.327 EIF5B 9669 broad.mit.edu 37 2 99977650 99977651 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:99977649_99977650T>TA uc002tab.3 + 3 469_470 c.285_286T>TA c.(283-288)gataaafs p.D95fs NM_015904 NP_056988 O60841 IF2P_HUMAN Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA. 95 Poly-Lys. regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCTCAAAAGATAAAAAAAAGAA 0.307 ANAPC1 64682 broad.mit.edu 37 2 112614258 112614259 + Splice_Site INS - - T rs4067742 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:112614257_112614258C>CT uc002thi.3 - 13 1697 c.1450_splice c.e13-1 p.K484_splice NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 484 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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 K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TGTCTATTTTCTAAAAAAACAA 0.361 SLC35F5 80255 broad.mit.edu 37 2 114480774 114480774 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:114480773_114480773TA>T uc002tku.1 - 13 1665 c.1251_splice c.e13-1 p.W417_splice SLC35F5_uc002tkt.3_Splice_Site|MIR4782_uc021vmz.1_5'Flank NM_025181 NP_079457 Q8WV83 S35F5_HUMAN Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA. 417 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 AAGCAGCCCCtaaaaaaaaga 0.338 DDX18 8886 broad.mit.edu 37 2 118583909 118583910 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:118583908_118583909A>AT uc002tlh.1 + 10 1684_1685 c.1585_1586A>AT c.(1585-1587)attfs p.I529fs NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA. 529 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGCCTTGCTCATTTTGCGCCCA 0.436 LRP1B 53353 broad.mit.edu 37 2 141081589 141081590 + Frame_Shift_Del DEL AT AT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:141081588_141081589CAT>C uc002tvj.1 - 80 13359_13360 c.12387_12388ATG>G c.(12385-12390)tatggafs p.Y4129fs NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4129 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.Y4129N(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 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) GGTCCTGCTCCATATATATAAT 0.297 TSP Lung(27;0.18) SCN9A 6335 broad.mit.edu 37 2 167144965 167144965 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:167144964_167144964CT>C uc010fpl.3 - 9 1638 c.1297_1297AG>G c.(1297-1299)gagfs p.E433fs BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Frame_Shift_Del_p.E304fs|SCN9A_uc002uds.1_Frame_Shift_Del_p.E304fs|SCN9A_uc002udt.1_Frame_Shift_Del_p.E304fs NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 433 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTTCTTGCTCTTTTTTAAGA 0.388 CCDC141 285025 broad.mit.edu 37 2 179710387 179710387 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:179710386_179710386AT>A uc002une.2 - 21 3559 c.3441_3441AT>T c.(3439-3441)aatfs p.N1147fs CCDC141_uc002unf.1_Frame_Shift_Del_p.N626fs NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 572 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TTGTCTGCTTATTTTTTGCTG 0.348 SESTD1 91404 broad.mit.edu 37 2 179986628 179986629 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:179986627_179986628C>CT uc002uni.4 - 12 1461_1462 c.1311_1312G>AG c.(1309-1314)aaaggtfs p.K437fs SESTD1_uc002unh.4_5'UTR NM_178123 NP_835224 Q86VW0 SESD1_HUMAN Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA. 437 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AGACCTTGACCTTTTTCACGCA 0.416 OSGEPL1 64172 broad.mit.edu 37 2 190620089 190620089 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:190620088_190620088CT>C uc002uqz.1 - 2 954 c.420_420AG>G c.(418-420)aagfs p.K140fs OSGEPL1_uc002ura.1_Non-coding_Transcript|OSGEPL1_uc010zfy.1_Frame_Shift_Del_p.K140fs NM_022353 NP_071748 Q9H4B0 OSGP2_HUMAN Homo sapiens O-sialoglycoprotein endopeptidase-like 1 (OSGEPL1), mRNA. 140 proteolysis|tRNA processing metalloendopeptidase activity large_intestine(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) GAATGAATGGCTTTTTTAACT 0.398 SGOL2 151246 broad.mit.edu 37 2 201438019 201438019 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:201438018_201438018TA>T uc002uvw.2 + 6 3062 c.2949_2949TA>T c.(2947-2949)gttfs p.V983fs SGOL2_uc010zhd.1_Frame_Shift_Del_p.V983fs|SGOL2_uc010zhe.1_Frame_Shift_Del_p.V983fs NM_152524 NP_689737 Q562F6 SGOL2_HUMAN Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA. 983 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding p.V982E(1) NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 ACAAAGTAGTTAAAAAACGTA 0.308 AOX1 316 broad.mit.edu 37 2 201477410 201477410 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:201477409_201477409CT>C uc002uvx.3 + 13 1442 c.1341_1341CT>C c.(1339-1341)gtcfs p.V447fs AOX1_uc010zhf.2_Frame_Shift_Del_p.V3fs|AOX1_uc010fsu.3_5'UTR NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 447 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity p.F448fs*10(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GAATGAGAGTCTTTTTTGGAG 0.473 ALS2CR11 151254 broad.mit.edu 37 2 202352367 202352367 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:202352366_202352366AT>A uc002uyf.3 - 15 5484 c.5432_5432AT>T c.(5431-5433)atgfs p.M1811fs ALS2CR11_uc002uye.3_Frame_Shift_Del_p.M614fs|ALS2CR11_uc010fti.3_3'UTR NM_001168221 NP_001161693 Q53TS8 AL2SA_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA. 614 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 TTTTGGCCGCATTTTATGCAT 0.328 PECR 55825 broad.mit.edu 37 2 216930130 216930132 + In_Frame_Del DEL CCT CCT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:216930129_216930131GCCT>G uc002vft.3 - 2 403_405 c.328_330AGGC>C c.(328-330)ggc>C p.G110del PECR_uc010zjq.2_Non-coding_Transcript NM_018441 NP_060911 Q9BY49 PECR_HUMAN Homo sapiens peroxisomal trans-2-enoyl-CoA reductase (PECR), mRNA. 110 fatty acid biosynthetic process|regulation of apoptosis peroxisome binding|trans-2-enoyl-CoA reductase (NADPH) activity endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1) 14 Renal(323;0.0327) Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Adenine(DB00173) AAAGAAACTGGCCTCCTCCATTG 0.429 XRCC5 7520 broad.mit.edu 37 2 216992312 216992312 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:216992311_216992311TA>T uc002vfy.3 + 7 991 c.851_851TA>T c.(850-852)ctafs p.L284fs XRCC5_uc002vfz.3_Frame_Shift_Del_p.L170fs NM_021141 NP_066964 P13010 XRCC5_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA. 284 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) GCAAAAACCCTAAAAAAAGAA 0.313 Non-homologous end-joining AGAP1 116987 broad.mit.edu 37 2 236649677 236649677 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr2:236649676_236649676GC>G uc002vvs.3 + 3 978 c.380_380GC>G c.(379-381)ggcfs p.G127fs AGAP1_uc002vvt.3_Frame_Shift_Del_p.G127fs|AGAP1_uc021vyp.1_Frame_Shift_Del_p.G127fs NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA. 127 Small GTPase-like. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding p.G127A(2)|p.G127G(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GATGAAGGGGGCCCCCCGGAG 0.488 TTLL3 26140 broad.mit.edu 37 3 9859428 9859429 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:9859427_9859428C>CA uc003btg.3 + 4 890_891 c.414_415C>CA c.(412-417)gacaaafs p.D138fs TTLL3_uc003btd.4_Frame_Shift_Ins_p.D232fs|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_5'UTR|TTLL3_uc010hco.1_Frame_Shift_Ins_p.D74fs|TTLL3_uc003bth.4_5'UTR|TTLL3_uc011atj.2_Frame_Shift_Ins_p.D74fs|TTLL3_uc003btj.4_5'UTR|TTLL3_uc003bti.4_5'UTR NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA. 138 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) CTGAGGATGACAAAAAAGCCTT 0.540 LOC401052 401052 broad.mit.edu 37 3 10049076 10049077 + Frame_Shift_Del DEL TG TG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:10049075_10049076CTG>C uc003bur.1 - 3 923_924 c.309_310CAG>G c.(307-312)acagtcfs p.T103fs CIDEC_uc003bto.3_Intron NM_001008737 NP_001008737 B3KMQ7 B3KMQ7_HUMAN Homo sapiens uncharacterized LOC401052 (LOC401052), mRNA. 103 lung(1)|stomach(1) 2 GGGAACCAGACTGTGCTGGGGT 0.594 TBC1D5 9779 broad.mit.edu 37 3 17255753 17255753 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:17255752_17255752TA>T uc010hev.3 - 19 2029 c.1765_1765TA>A c.(1765-1767)agcfs p.S589fs TBC1D5_uc010heu.3_Frame_Shift_Del_p.S154fs|TBC1D5_uc003cbf.3_Frame_Shift_Del_p.S567fs|TBC1D5_uc003cbe.3_Frame_Shift_Del_p.S567fs|TBC1D5_uc010hew.1_Frame_Shift_Del_p.S541fs NM_001134381 NP_001127853 Q92609 TBCD5_HUMAN Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA. 567 intracellular Rab GTPase activator activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GAGATGTTGCTAAAAAAGGAA 0.393 RARB 5915 broad.mit.edu 37 3 25502727 25502728 + Frame_Shift_Ins INS - - C rs149883315 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:25502726_25502727G>GC uc011awl.2 + 1 287_288 c.221_222G>GC c.(220-222)agcfs p.S74fs RARB_uc003cdi.2_5'UTR|RARB_uc003cdh.3_Frame_Shift_Ins_p.S67fs NM_016152 NP_057236 P10826 RARB_HUMAN Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA. 74 Modulating. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) CTCGTCCCAAGCCCCCCATCTC 0.490 CELSR3 1951 broad.mit.edu 37 3 48689915 48689915 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:48689914_48689914CG>C uc003cuf.1 - 12 5917 c.5917_5917CG>G c.(5917-5919)ggcfs p.G1973fs CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Frame_Shift_Del_p.G1903fs NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 1903 EGF-like 5; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTGCACTGCCGGGGGGCAGG 0.627 P4HTM 54681 broad.mit.edu 37 3 49042565 49042566 + Frame_Shift_Ins INS - - T rs150458516 by1000genomes TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:49042564_49042565G>GT uc003cvh.3 + 5 1507_1508 c.1158_1159G>GT c.(1156-1161)gtgcccfs p.V386fs P4HTM_uc003cvg.3_Intron|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177938 NP_808807 Q9NXG6 P4HTM_HUMAN Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA. 0 Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) CTGTGGGCGTGCCCCTTGGCAT 0.594 BSN 8927 broad.mit.edu 37 3 49694496 49694496 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:49694495_49694495GC>G uc003cxe.4 + 4 7620 c.7506_7506GC>G c.(7504-7506)tggfs p.W2502fs NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 2502 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCCAGTATTGGCCCCCCCTTA 0.647 RBM6 10180 broad.mit.edu 37 3 50005145 50005145 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:50005144_50005144AG>A uc003cyc.3 + 2 534 c.286_286AG>A c.(286-288)aggfs p.R96fs RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron NM_005777 NP_001161054 P78332 RBM6_HUMAN Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA. 96 RNA processing nucleus DNA binding|RNA binding|nucleotide binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) ACATGATTTCAGGGGGGGAGA 0.498 PBRM1 55193 broad.mit.edu 37 3 52610623 52610623 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:52610622_52610622AT>A uc003des.2 - 21 3638 c.3626_3626AT>T c.(3625-3627)atgfs p.M1209fs PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.M1209fs|PBRM1_uc003der.2_Frame_Shift_Del_p.M1177fs|PBRM1_uc003det.2_Frame_Shift_Del_p.M1224fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.M1224fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.M1209fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.M1184fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.M1184fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.M1208fs NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 1209 BAH 2. Missing (found in a case of clear cell renal carcinoma; somatic mutation). chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding p.M1209_E1214delMFYKKE(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TTTGTAGAACATTTTTGTGGG 0.383 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" PTPRG 5793 broad.mit.edu 37 3 62189498 62189498 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:62189497_62189497GC>G uc003dlb.3 + 11 2747 c.2028_2028GC>G c.(2026-2028)gtgfs p.V676fs PTPRG_uc003dlc.3_Frame_Shift_Del_p.V676fs NM_002841 NP_002832 P23470 PTPRG_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA. 676 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CCACCCAAGTGCCCCCCACCG 0.627 ARL13B 200894 broad.mit.edu 37 3 93755447 93755447 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:93755446_93755446TA>T uc003drc.3 + 4 822 c.537_537TA>T c.(535-537)attfs p.I179fs ARL13B_uc010hop.3_Frame_Shift_Del_p.I30fs|ARL13B_uc003drf.3_Frame_Shift_Del_p.I179fs|ARL13B_uc003drg.3_Frame_Shift_Del_p.I76fs|ARL13B_uc003drd.3_Frame_Shift_Del_p.I72fs|ARL13B_uc003dre.3_Frame_Shift_Del_p.I164fs NM_182896 NP_001167622 Q3SXY8 AR13B_HUMAN Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA. 179 GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 ACAAGTCCATTAAAAAAGGCC 0.378 GPR15 2838 broad.mit.edu 37 3 98251024 98251024 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:98251023_98251023TG>T uc011bgy.2 + 0 146 c.146_146TG>T c.(145-147)ctgfs p.L49fs NM_005290 NP_005281 P49685 GPR15_HUMAN Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA. 49 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) ACTGGAGTGCTGGGGAACCTT 0.498 FAM55C 91775 broad.mit.edu 37 3 101525973 101525973 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:101525972_101525972TA>T uc003dvn.3 + 6 1559 c.922_splice c.e6+2 p.E308_splice FAM55C_uc010hpn.3_Splice_Site_p.E308_splice NM_145037 NP_659474 Q969Y0 FA55C_HUMAN Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA. 308 extracellular region breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 32 GAATAAAAGGTAAAAAAAAGA 0.353 KIAA1524 57650 broad.mit.edu 37 3 108301828 108301828 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:108301827_108301827CA>C uc003dxb.4 - 2 623 c.354_354TG>G c.(352-354)ttgfs p.L118fs KIAA1524_uc003dxc.1_5'UTR|KIAA1524_uc010hpw.1_5'UTR NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN Homo sapiens KIAA1524 (KIAA1524), mRNA. 118 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGTATACCTGCAAAAACACCG 0.408 POLQ 10721 broad.mit.edu 37 3 121238933 121238933 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:121238932_121238932TA>T uc003eee.4 - 9 1385 c.1256_splice c.e9-1 p.G419_splice NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 419 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AAGTAAGACCTAAAAAAAGGA 0.373 DNA polymerases (catalytic subunits) PARP15 165631 broad.mit.edu 37 3 122345823 122345823 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:122345822_122345822GA>G uc003efm.2 + 8 1446 c.1380_1380GA>G c.(1378-1380)atgfs p.M460fs PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Frame_Shift_Del_p.M207fs|PARP15_uc003efp.1_Frame_Shift_Del_p.M226fs|PARP15_uc011bjt.1_Intron NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA. 438 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) ACGACAGCATGAAAAAAAGAG 0.373 PIK3CB 5291 broad.mit.edu 37 3 138413710 138413710 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:138413709_138413709CG>C uc011bmq.2 - 11 1811 c.1811_1811CG>G c.(1810-1812)cggfs p.R604fs PIK3CB_uc011bmn.2_Frame_Shift_Del_p.R116fs|PIK3CB_uc011bmo.2_Frame_Shift_Del_p.R50fs|PIK3CB_uc011bmp.2_Frame_Shift_Del_p.R191fs NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 604 PI3K helical. G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TAGGGCCTCCCGGGGGGGCAG 0.468 GPR160 26996 broad.mit.edu 37 3 169802469 169802469 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:169802468_169802468TA>T uc003fgi.3 + 3 1298 c.708_708TA>T c.(706-708)tctfs p.S236fs GPR160_uc010hwq.3_Frame_Shift_Del_p.S236fs|GPR160_uc021xhe.1_Frame_Shift_Del_p.S236fs NM_014373 NP_055188 Q9UJ42 GP160_HUMAN Homo sapiens G protein-coupled receptor 160 (GPR160), mRNA. 236 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) CTGTGAGATCTAAAAAAATAT 0.323 IL1RAP 3556 broad.mit.edu 37 3 190341140 190341140 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:190341139_190341139CA>C uc010hzg.2 + 7 1131 c.710_710CA>C c.(709-711)ccafs p.P237fs IL1RAP_uc003fsk.3_Frame_Shift_Del_p.P237fs|IL1RAP_uc003fsl.3_Frame_Shift_Del_p.P237fs|IL1RAP_uc003fsm.2_Frame_Shift_Del_p.P237fs|IL1RAP_uc003fso.2_Frame_Shift_Del_p.P237fs|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Frame_Shift_Del_p.P237fs NM_001167928 NP_002173 Q9NPH3 IL1AP_HUMAN Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA. 237 inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) ACAGGCTCTCCAAAAAATGCA 0.398 IL1RAP 3556 broad.mit.edu 37 3 190345194 190345194 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr3:190345193_190345193GA>G uc010hzg.2 + 8 1278 c.857_857GA>G c.(856-858)ggafs p.G286fs IL1RAP_uc003fsk.3_Frame_Shift_Del_p.G286fs|IL1RAP_uc003fsl.3_Frame_Shift_Del_p.G286fs|IL1RAP_uc003fsm.2_Frame_Shift_Del_p.G286fs|IL1RAP_uc003fso.2_Frame_Shift_Del_p.G286fs|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Frame_Shift_Del_p.G286fs NM_001167928 NP_002173 Q9NPH3 IL1AP_HUMAN Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA. 286 Ig-like C2-type 3. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) ACCATTGATGGAAAAAAACCT 0.398 GAK 2580 broad.mit.edu 37 4 844859 844860 + Frame_Shift_Del DEL TT TT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:844858_844859CTT>C uc003gbm.4 - 25 3721_3722 c.3522_3523AAG>G c.(3520-3525)aaagtcfs p.K1174fs GAK_uc003gbn.4_Frame_Shift_Del_p.K1095fs|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Frame_Shift_Del_p.K1027fs NM_005255 NP_005246 O14976 GAK_HUMAN Homo sapiens cyclin G associated kinase (GAK), mRNA. 1174 cell cycle Golgi apparatus|focal adhesion|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) TTCTCAGAGACTTTTGGCTTTT 0.470 EVC2 132884 broad.mit.edu 37 4 5633549 5633550 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:5633548_5633549A>AT uc003gij.3 - 10 1735_1736 c.1681_1682T>AT c.(1681-1683)atgfs p.M561fs EVC2_uc003gik.3_Frame_Shift_Ins_p.M481fs|EVC2_uc011bwb.2_Frame_Shift_Ins_p.M1fs NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 561 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TTGCAGCAGCATTTTAGCTGCC 0.371 ABLIM2 84448 broad.mit.edu 37 4 8021937 8021938 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:8021936_8021937G>GT uc003gko.3 - 11 1405_1406 c.1262_1263C>AC c.(1261-1263)cacfs p.H421fs ABLIM2_uc003gkk.3_Frame_Shift_Ins_p.H84fs|ABLIM2_uc003gkl.3_Intron|ABLIM2_uc003gkm.4_Intron|ABLIM2_uc003gkp.3_Intron|ABLIM2_uc003gkq.3_Frame_Shift_Ins_p.H421fs|ABLIM2_uc003gkr.3_Intron|ABLIM2_uc003gkj.4_Frame_Shift_Ins_p.H454fs|ABLIM2_uc003gks.3_Intron NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA. 421 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 TACCTGGGACGTGGAAGTGGCG 0.629 TLR6 10333 broad.mit.edu 37 4 38830853 38830853 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:38830852_38830852CA>C uc010ifg.2 - 1 364 c.243_243TG>G c.(241-243)ttgfs p.L81fs TLR6_uc003gtm.3_Frame_Shift_Del_p.L81fs NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN Homo sapiens toll-like receptor 6 (TLR6), mRNA. 81 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGGAAAGTCTCAAAACTGTCA 0.373 TMEM165 55858 broad.mit.edu 37 4 56277913 56277913 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:56277912_56277912AT>A uc003hax.2 + 1 606 c.339_339AT>A c.(337-339)acafs p.T113fs TMEM165_uc011bzy.1_Frame_Shift_Del_p.T50fs NM_018475 NP_060945 Q9HC07 TM165_HUMAN Homo sapiens transmembrane protein 165 (TMEM165), mRNA. 113 integral to membrane endometrium(1)|kidney(1)|large_intestine(2) 4 Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103) GTGATAAGACATTTTTTATAG 0.433 EXOC1 55763 broad.mit.edu 37 4 56765965 56765966 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:56765964_56765965G>GA uc003hbe.1 + 16 2409_2410 c.2251_2252G>GA c.(2251-2253)gaafs p.E751fs EXOC1_uc003hbf.1_Frame_Shift_Ins_p.E751fs|EXOC1_uc003hbg.1_Frame_Shift_Ins_p.E736fs NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA. 751 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) TCTAGAAGCAGAAAAAAAAGAA 0.337 ENAM 10117 broad.mit.edu 37 4 71503555 71503555 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:71503554_71503554AG>A uc011caw.1 + 7 863 c.582_582AG>A c.(580-582)gaafs p.E194fs NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 194 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GCAATGAAGAAGGGGGGGTAA 0.433 BANK1 55024 broad.mit.edu 37 4 102946605 102946605 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:102946604_102946604TC>T uc003hvy.4 + 8 1806 c.1532_1532TC>T c.(1531-1533)ctcfs p.L511fs BANK1_uc003hvx.4_Frame_Shift_Del_p.L496fs|BANK1_uc010ill.3_Frame_Shift_Del_p.L378fs|BANK1_uc003hvz.4_Frame_Shift_Del_p.L481fs NM_017935 NP_001077376 Q8NDB2 BANK1_HUMAN Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA. 511 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AGACCTCCTCTCCCCCCGCCG 0.448 AGXT2L1 64850 broad.mit.edu 37 4 109675791 109675792 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:109675790_109675791C>CT uc003hzc.3 - 4 667_668 c.486_487G>AG c.(484-489)aaagaafs p.K162fs AGXT2L1_uc010imc.3_Frame_Shift_Ins_p.K156fs|AGXT2L1_uc011cfm.2_Frame_Shift_Ins_p.K122fs|AGXT2L1_uc011cfn.2_Frame_Shift_Ins_p.K89fs|AGXT2L1_uc011cfo.2_Frame_Shift_Ins_p.K104fs NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA. 162 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000281) TGTACAAATTCTTTTTTGACAT 0.337 ALPK1 80216 broad.mit.edu 37 4 113352135 113352136 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:113352134_113352135C>CA uc003ian.4 + 10 1658_1659 c.1431_1432C>CA c.(1429-1434)aacaaafs p.N477fs ALPK1_uc003iap.4_Frame_Shift_Ins_p.N477fs|ALPK1_uc011cfx.2_Frame_Shift_Ins_p.N399fs|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Frame_Shift_Ins_p.N305fs NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 477 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GTGGAAACAACAAAAATGAACA 0.371 ANK2 287 broad.mit.edu 37 4 114294543 114294543 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:114294542_114294542AG>A uc003ibe.4 + 44 11896 c.11796_11796AG>A c.(11794-11796)gaafs p.E3932fs ANK2_uc003ibd.4_Frame_Shift_Del_p.E1838fs|ANK2_uc003ibf.4_Frame_Shift_Del_p.E1847fs|ANK2_uc011cgc.2_Frame_Shift_Del_p.E1023fs|ANK2_uc003ibg.4_Frame_Shift_Del_p.E862fs|ANK2_uc003ibh.4_Frame_Shift_Del_p.E552fs|ANK2_uc010ims.3_Frame_Shift_Del_p.E14fs|ANK2_uc010imr.3_Frame_Shift_Del_p.E14fs NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3899 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACATCGAGGAAGGGGATGGCT 0.443 SCLT1 132320 broad.mit.edu 37 4 129924995 129924995 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:129924994_129924994AT>A uc003igp.2 - 5 834 c.328_328AT>T c.(328-330)ttgfs p.L110fs SCLT1_uc003igq.2_Frame_Shift_Del_p.L110fs|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA. 110 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 AAGGCCTCCAATTTTTTTTCA 0.383 PCDH10 57575 broad.mit.edu 37 4 134071649 134071650 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:134071648_134071649A>AC uc003iha.3 + 0 1179_1180 c.353_354A>AC c.(352-354)aacfs p.N118fs BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.N118fs NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA. 118 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S121fs*13(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTAATGACAACCCCCCCTCTT 0.604 SMARCA5 8467 broad.mit.edu 37 4 144469153 144469155 + In_Frame_Del DEL GAA GAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:144469152_144469154TGAA>T uc003ijg.3 + 21 3306_3308 c.2844_2846TGAA>T c.(2842-2847)actgaa>acTa p.E951del NM_003601 NP_003592 O60264 SMCA5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA. 951 SANT 2. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) AAAACTATACTGAAGAAGAAGAT 0.330 HHIP 64399 broad.mit.edu 37 4 145658978 145658978 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:145658977_145658977TA>T uc003ijs.2 + 12 2651 c.1971_1971TA>T c.(1969-1971)tgtfs p.C657fs NM_022475 NP_071920 Q96QV1 HHIP_HUMAN Homo sapiens hedgehog interacting protein (HHIP), mRNA. 657 EGF-like 2. cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) AGTGCCTCTGTAAAAAAGGAT 0.448 FBXW7 55294 broad.mit.edu 37 4 153244115 153244116 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:153244114_153244115C>CT uc003ims.3 - 11 2204_2205 c.2042_2043G>AG c.(2041-2043)aagfs p.K681fs FBXW7_uc011cii.2_Frame_Shift_Ins_p.K681fs|FBXW7_uc003imt.3_Frame_Shift_Ins_p.K681fs|FBXW7_uc011cih.2_Frame_Shift_Ins_p.K505fs|FBXW7_uc003imq.3_Frame_Shift_Ins_p.K601fs|FBXW7_uc003imr.3_Frame_Shift_Ins_p.K563fs NM_033632 NP_361014 Q969H0 FBXW7_HUMAN Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA. 681 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development SCF ubiquitin ligase complex|nucleolus|nucleoplasm protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CACACACCAGCTTTGTGTTTGA 0.490 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" FGB 2244 broad.mit.edu 37 4 155488796 155488797 + Frame_Shift_Del DEL TA TA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:155488795_155488796TTA>T uc003ioa.4 + 3 580_581 c.541_542TTA>T c.(541-543)ttafs p.L181fs FGB_uc010ipv.3_Frame_Shift_Del_p.L122fs NM_005141 NP_005132 P02675 FIBB_HUMAN Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA. 181 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding p.Q180Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AAAGCACCAATTATATATAGAT 0.332 SPOCK3 50859 broad.mit.edu 37 4 167921617 167921617 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:167921616_167921616TA>T uc011cjq.1 - 3 329 c.272_splice c.e3-1 p.A91_splice SPOCK3_uc021xuf.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjs.1_Splice_Site_p.A31_splice|SPOCK3_uc003irj.1_Splice_Site_p.A79_splice|SPOCK3_uc011cjt.1_Splice_Site|SPOCK3_uc011cjp.2_Splice_Site_p.A79_splice|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Splice_Site_p.A79_splice|SPOCK3_uc011cjw.1_Splice_Site NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 82 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GATCTAAAGCTAAAAAAATTG 0.338 ODZ3 55714 broad.mit.edu 37 4 183714567 183714567 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:183714566_183714566GT>G uc003ivd.1 + 24 6816 c.6741_6741GT>G c.(6739-6741)cagfs p.Q2247fs NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 2247 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGCACCTGCAGTTTTTTTATG 0.448 WWC2 80014 broad.mit.edu 37 4 184166576 184166576 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr4:184166575_184166575TA>T uc010irx.3 + 5 791 c.609_609TA>T c.(607-609)gatfs p.D203fs WWC2_uc003ivk.4_5'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Intron NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA. 203 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) ACAGAATTGATAAAAAAATGT 0.358 CD180 4064 broad.mit.edu 37 5 66478727 66478727 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:66478726_66478726CA>C uc003juy.2 - 2 2093 c.1945_1945TG>G c.(1945-1947)gcafs p.A649fs NM_005582 NP_005573 Q99467 CD180_HUMAN Homo sapiens CD180 molecule (CD180), mRNA. 649 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity p.F648L(1) cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TATTTAACTGCAAAAAATAGC 0.358 CETN3 1070 broad.mit.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:89701580_89701580CT>C uc003kjo.3 - 2 315 c.190_190AG>G c.(190-192)gctfs p.A64fs NM_004365 NP_004356 O15182 CETN3_HUMAN Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA. 64 EF-hand 2. cell division|centrosome cycle|mitosis centriole calcium ion binding lung(3) 3 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-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;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) AGTACATCAGCTTTTTTTACA 0.313 EPB41L4A 64097 broad.mit.edu 37 5 111500731 111500732 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:111500730_111500731G>GT uc003kpv.1 - 22 2291_2292 c.2017_2018C>AC c.(2017-2019)acafs p.T673fs EPB41L4A_uc003kpp.1_Intron|EPB41L4A_uc003kpu.1_Non-coding_Transcript NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA. 673 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding p.T673delT(2) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AGTTTTTATTGTTTTTGCTGTG 0.421 SPINK5 11005 broad.mit.edu 37 5 147481387 147481387 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:147481386_147481386CT>C uc003lox.2 + 14 1418 c.1345_1345CT>C c.(1345-1347)cttfs p.L449fs SPINK5_uc010jgs.1_Frame_Shift_Del_p.L421fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.L430fs|SPINK5_uc003low.2_Frame_Shift_Del_p.L449fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.L449fs NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 449 Kazal-like 7. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACGGACGGCTTTTTTGCAC 0.468 CSF1R 1436 broad.mit.edu 37 5 149460476 149460476 + Frame_Shift_Del DEL G G - rs139516059 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:149460475_149460475TG>T uc003lrl.3 - 1 357 c.162_162CA>A c.(160-162)ccafs p.P54fs CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Frame_Shift_Del_p.P54fs|CSF1R_uc011dce.1_Frame_Shift_Del_p.P54fs|CSF1R_uc011dcf.2_Frame_Shift_Del_p.P54fs NM_005211 NP_005202 P07333 CSF1R_HUMAN Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA. 54 Ig-like C2-type 1. P -> A (in Ref. 2; CAA27300). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) AGTGAGGTGATGGGGGGCCAT 0.592 SYNPO 11346 broad.mit.edu 37 5 150028881 150028882 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:150028880_150028881A>AC uc003lsn.3 + 2 2149_2150 c.1775_1776A>AC c.(1774-1776)gacfs p.D592fs SYNPO_uc021yfu.1_Frame_Shift_Ins_p.D592fs|SYNPO_uc003lso.4_Frame_Shift_Ins_p.D348fs|SYNPO_uc003lsp.3_Frame_Shift_Ins_p.D348fs|SYNPO_uc021yfv.1_Frame_Shift_Ins_p.D348fs NM_001166208 NP_001159681 Q8N3V7 SYNPO_HUMAN Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA. 592 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCAGCTCCGACCCCAAGTCTT 0.599 FAM114A2 10827 broad.mit.edu 37 5 153382463 153382465 + In_Frame_Del DEL CTT CTT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr5:153382462_153382464CCTT>C uc003lvd.3 - 10 1201_1203 c.1059_1061AAGG>G c.(1057-1062)gaagga>gaGa p.G354del FAM114A2_uc003lvb.3_In_Frame_Del_p.G354del|FAM114A2_uc003lve.3_In_Frame_Del_p.G170del|FAM114A2_uc011dda.2_In_Frame_Del_p.G284del|FAM114A2_uc003lvc.3_In_Frame_Del_p.G354del NM_018691 NP_061161 Q9NRY5 F1142_HUMAN Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA. 354 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 CTGTTTTTCTCCTTCTTCATTCT 0.374 ZKSCAN4 387032 broad.mit.edu 37 6 28219672 28219674 + In_Frame_Del DEL CTT CTT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:28219671_28219673CCTT>C uc003nks.1 - 0 330_332 c.86_88AAGG>G c.(85-90)aaggag>aGag p.29_30KE>R ZKSCAN4_uc011dlb.1_Intron NM_019110 NP_061983 Q969J2 ZKSC4_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA. 29 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 GAGGCTTCCTCCTTCTCCACCTT 0.655 PGBD1 84547 broad.mit.edu 37 6 28269630 28269631 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:28269629_28269630G>GA uc003nky.3 + 6 2418_2419 c.1998_1999G>GA c.(1996-2001)atgaaafs p.M666fs PGBD1_uc003nkz.3_Frame_Shift_Ins_p.M666fs NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA. 666 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 TAGAACATATGAAAAAAATGAA 0.391 ZBTB9 221504 broad.mit.edu 37 6 33424006 33424006 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:33424005_33424005AC>A uc003oeq.3 + 1 1396 c.1128_1128AC>A c.(1126-1128)acafs p.T376fs ZBTB9_uc021ywp.1_Frame_Shift_Del_p.T376fs NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA. 376 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 TAGGGGGGACACCCCCTGCAG 0.597 UHRF1BP1 54887 broad.mit.edu 37 6 34839369 34839369 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:34839368_34839368TC>T uc003oju.4 + 18 4223 c.3989_3989TC>T c.(3988-3990)atcfs p.I1330fs UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 1330 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CAGGATGATATCCCCCCCATC 0.512 DST 667 broad.mit.edu 37 6 56499695 56499695 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:56499694_56499694CT>C uc003pcy.4 - 10 1741 c.1633_1633AG>G c.(1633-1635)gcafs p.A545fs DST_uc021zay.1_Frame_Shift_Del_p.A911fs|DST_uc021zax.1_Frame_Shift_Del_p.A545fs|DST_uc003pdc.4_Frame_Shift_Del_p.A545fs|DST_uc003pdd.4_Frame_Shift_Del_p.A545fs NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 871 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATTGTTTTTGCTTTTCCCATT 0.343 EYS 346007 broad.mit.edu 37 6 66205125 66205125 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:66205124_66205124CA>C uc011dxu.1 - 3 718 c.180_180TG>G c.(178-180)ttgfs p.L60fs EYS_uc003peq.3_Frame_Shift_Del_p.L60fs|EYS_uc003per.1_Frame_Shift_Del_p.L60fs|EYS_uc021zbn.1_Frame_Shift_Del_p.L60fs|EYS_uc010kaj.1_Non-coding_Transcript NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA. 60 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TGTTTACACCCAAAAACCAGC 0.388 COL12A1 1303 broad.mit.edu 37 6 75893269 75893269 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:75893268_75893268CA>C uc021zbv.1 - 8 1424 c.1389_1389TG>G c.(1387-1389)ttgfs p.L463fs COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Frame_Shift_Del_p.L463fs|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Frame_Shift_Del_p.L121fs NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 463 VWFA 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAAGAACTTCCAAAAAGGCTC 0.373 SENP6 26054 broad.mit.edu 37 6 76425169 76425169 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:76425168_76425168CA>C uc003pid.4 + 23 3816 c.3197_3197CA>C c.(3196-3198)acafs p.T1066fs SENP6_uc003pie.4_Frame_Shift_Del_p.T1059fs|SENP6_uc010kbf.3_Non-coding_Transcript NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA. 1066 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) AGAATGAGAACAAAAAGAGAA 0.348 IBTK 25998 broad.mit.edu 37 6 82949955 82949956 + Frame_Shift_Del DEL TT TT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:82949954_82949955CTT>C uc003pjl.1 - 1 776_777 c.249_250AAG>G c.(247-252)aaagagfs p.K83fs IBTK_uc011dyv.1_Frame_Shift_Del_p.K83fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K83fs|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Frame_Shift_Del_p.K83fs NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA. 83 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) CATCCAGACTCTTTGTCTTTCA 0.386 USP45 85015 broad.mit.edu 37 6 99894246 99894246 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:99894245_99894245TC>T uc003ppx.2 - 13 1936 c.1403_1403GA>A c.(1402-1404)gatfs p.D468fs USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Frame_Shift_Del_p.D148fs NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA. 468 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) CATTAAAGAATCCCCATTCAT 0.373 HS3ST5 222537 broad.mit.edu 37 6 114379084 114379084 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:114379083_114379083CA>C uc003pwg.4 - 1 411 c.379_379TG>G c.(379-381)gatfs p.D127fs BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Frame_Shift_Del_p.D127fs NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA. 127 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TCATCATTATCAAAAAAGTGG 0.423 FAM184A 79632 broad.mit.edu 37 6 119345777 119345777 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:119345776_119345776AT>A uc003pyj.3 - 1 710 c.362_362AT>T c.(361-363)atgfs p.M121fs FAM184A_uc003pyk.4_Frame_Shift_Del_p.M1fs|FAM184A_uc003pyl.4_Frame_Shift_Del_p.M1fs NM_024581 NP_078857 Q8NB25 F184A_HUMAN Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA. 121 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 CTGCTGCTTCATTTTTATGTG 0.378 VNN1 8876 broad.mit.edu 37 6 133035130 133035131 + Frame_Shift_Del DEL AT AT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:133035129_133035130CAT>C uc003qdo.3 - 0 65_66 c.45_46ATG>G c.(43-48)tatgtcfs p.Y15fs NM_004666 NP_004657 O95497 VNN1_HUMAN Homo sapiens vanin 1 (VNN1), mRNA. 15 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) GCTCTTGAGACATAGAAAAGCA 0.470 GPR126 57211 broad.mit.edu 37 6 142718831 142718831 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr6:142718830_142718830TA>T uc010khe.3 + 9 1916 c.1505_1505TA>T c.(1504-1506)ctafs p.L502fs GPR126_uc010khc.3_Frame_Shift_Del_p.L502fs|GPR126_uc010khd.3_Frame_Shift_Del_p.L474fs|GPR126_uc010khf.3_Frame_Shift_Del_p.L474fs NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 502 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CAGAAGCTCCTAAAAAATAAT 0.363 ZNF680 340252 broad.mit.edu 37 7 64004763 64004765 + In_Frame_Del DEL CTC CTC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:64004762_64004764ACTC>A uc003tta.2 - 1 250_252 c.77_79GAGT>T c.(76-81)gagtgg>gTgg p.26_27EW>V ZNF680_uc003ttb.2_In_Frame_Del_p.26_27EW>V NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA. 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E25D(1) breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 27 Lung NSC(55;0.118)|all_lung(88;0.243) AGGCATTGCCACTCCTCCAGAGA 0.429 PEX1 5189 broad.mit.edu 37 7 92147069 92147069 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:92147068_92147068GA>G uc003uly.3 - 4 857 c.761_761TC>C c.(760-762)tccfs p.S254fs PEX1_uc011khr.2_Frame_Shift_Del_p.S46fs|PEX1_uc010ley.3_Frame_Shift_Del_p.S254fs|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript NM_000466 NP_000457 O43933 PEX1_HUMAN Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA. 254 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) AGATTGAAAGGAAAAAATGCT 0.353 SAMD9L 219285 broad.mit.edu 37 7 92761061 92761062 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:92761060_92761061G>GT uc003umh.1 - 4 5440_5441 c.4224_4225C>AC c.(4222-4227)aaacaafs p.K1408fs SAMD9L_uc003umj.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc003umi.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfb.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc003umk.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfc.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfd.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc022ahh.1_Frame_Shift_Ins_p.K1408fs NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1408 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TCTCGGAGTTGTTTTTTTAGCG 0.406 ZNF3 7551 broad.mit.edu 37 7 99672966 99672966 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:99672965_99672965GA>G uc003uss.3 - 1 403 c.85_85TC>C c.(85-87)cacfs p.H29fs ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Intron|ZNF3_uc010lgj.3_Intron|ZNF3_uc003usr.3_Intron|ZNF3_uc003ust.4_Intron P17036 ZNF3_HUMAN Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA. 0 cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) AGGATGGGGTGAAAAATGCAC 0.502 SLC26A3 1811 broad.mit.edu 37 7 107427311 107427311 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:107427310_107427310GT>G uc003ver.2 - 7 1144 c.933_933AC>C c.(931-933)aacfs p.N311fs SLC26A3_uc003ves.2_Frame_Shift_Del_p.N276fs NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 311 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CTTTAAACCTGTTTTTAAAGT 0.463 NRCAM 4897 broad.mit.edu 37 7 107816976 107816977 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:107816975_107816976A>AT uc022aka.1 - 23 3156_3157 c.3050_3051T>AT c.(3049-3051)aatfs p.N1017fs NRCAM_uc011kmk.2_Frame_Shift_Ins_p.N1017fs|NRCAM_uc003vfd.3_Frame_Shift_Ins_p.N998fs|NRCAM_uc003vfe.3_Frame_Shift_Ins_p.N998fs|NRCAM_uc003vfc.3_Frame_Shift_Ins_p.N1001fs|NRCAM_uc011kmj.2_5'UTR NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA. 1017 Fibronectin type-III 4. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TGAAATTTAAATTTTTTAAAGT 0.361 TMEM168 64418 broad.mit.edu 37 7 112407336 112407336 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:112407335_112407335TA>T uc003vgn.3 - 4 2403 c.2011_2011TA>A c.(2011-2013)aggfs p.R671fs TMEM168_uc010lju.3_Frame_Shift_Del_p.R671fs|TMEM168_uc011kmr.2_Frame_Shift_Del_p.R287fs NM_022484 NP_071929 Q9H0V1 TM168_HUMAN Homo sapiens transmembrane protein 168 (TMEM168), mRNA. 671 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 TTCAAGCACCTAAAACAAGTT 0.408 ZNF777 27153 broad.mit.edu 37 7 149152696 149152696 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr7:149152695_149152695AG>A uc003wfv.3 - 1 582 c.419_419CT>T c.(418-420)ctgfs p.L140fs NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN Homo sapiens zinc finger protein 777 (ZNF777), mRNA. 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGAAAGGGTCAGGGGGTCTTT 0.602 TNFRSF10D 8793 broad.mit.edu 37 8 23003347 23003348 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:23003346_23003347T>TC uc003xcz.1 - 4 662_663 c.570_571A>GA c.(568-573)gggaaafs p.G190fs NM_003840 NP_003831 Q9UBN6 TR10D_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA. 190 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) GCTGGGGTTTTCCCAGTGGAAC 0.505 NEFM 4741 broad.mit.edu 37 8 24773137 24773137 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:24773136_24773136GA>G uc003xed.4 + 1 1132 c.1099_1099GA>G c.(1099-1101)gaafs p.E367fs NEFM_uc011lac.1_Frame_Shift_Del_p.E367fs|NEFM_uc010lue.3_5'UTR NM_005382 NP_005373 P07197 NFM_HUMAN Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA. 367 Coil 2B.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 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) CCAGCAGCTGGAAAATGAGCT 0.517 CDCA2 157313 broad.mit.edu 37 8 25364716 25364716 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:25364715_25364715GA>G uc003xep.1 + 14 3010 c.2533_2533GA>G c.(2533-2535)gaafs p.E845fs DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Frame_Shift_Del_p.E830fs|CDCA2_uc003xer.1_Frame_Shift_Del_p.E508fs NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN Homo sapiens cell division cycle associated 2 (CDCA2), mRNA. 845 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TTTACATTTGGAAAAAAATGG 0.393 ESCO2 157570 broad.mit.edu 37 8 27633949 27633949 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:27633948_27633948TA>T uc003xgg.3 + 2 206 c.123_123TA>T c.(121-123)gatfs p.D41fs ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Frame_Shift_Del_p.D41fs NM_001017420 NP_001017420 Q56NI9 ESCO2_HUMAN Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA. 41 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) AAAACAGTGATAAAAATGAAG 0.328 SC Phocomelia syndrome SNAI2 6591 broad.mit.edu 37 8 49831439 49831439 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:49831438_49831438GT>G uc003xqp.3 - 2 910 c.735_735AC>C c.(733-735)aacfs p.N245fs NM_003068 NP_003059 O43623 SNAI2_HUMAN Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA. 245 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TTTTGGAGCAGTTTTTGCACT 0.458 LY96 23643 broad.mit.edu 37 8 74903693 74903693 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:74903692_74903692GT>G uc003yad.3 + 0 129 c.15_15GT>G c.(13-15)ctgfs p.L5fs LY96_uc022awb.1_Frame_Shift_Del_p.L5fs NM_015364 NP_056179 Q9Y6Y9 LY96_HUMAN Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA. 5 I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) TACCATTTCTGTTTTTTTCCA 0.368 LRRCC1 85444 broad.mit.edu 37 8 86047209 86047209 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:86047208_86047208CA>C uc003ycw.3 + 12 2303 c.2095_2095CA>C c.(2095-2097)caafs p.Q699fs LRRCC1_uc022awx.1_Frame_Shift_Del_p.Q606fs|LRRCC1_uc010maa.2_Frame_Shift_Del_p.Q400fs|LRRCC1_uc003ycy.3_Frame_Shift_Del_p.Q679fs NM_033402 NP_208325 Q9C099 LRCC1_HUMAN Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA. 699 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 GGTAAAGGAACAAAAAACAAA 0.313 KIAA1429 25962 broad.mit.edu 37 8 95531563 95531564 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:95531562_95531563T>TA uc003ygo.2 - 8 2234_2235 c.2163_2164A>TA c.(2161-2166)tttatgfs p.F721fs KIAA1429_uc003ygp.3_Frame_Shift_Ins_p.F721fs|KIAA1429_uc010maz.2_Non-coding_Transcript NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 721 RNA splicing|mRNA processing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TATTCCGACATAAAAAAAAGAA 0.401 RGS22 26166 broad.mit.edu 37 8 100990288 100990289 + Frame_Shift_Ins INS - - C rs35278820 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:100990287_100990288A>AC uc003yjb.1 - 22 3571_3572 c.3376_3377T>GT c.(3376-3378)gttfs p.V1126fs RGS22_uc003yja.1_Frame_Shift_Ins_p.V945fs|RGS22_uc003yjc.1_Frame_Shift_Ins_p.V1114fs|RGS22_uc022azf.1_Frame_Shift_Ins_p.V515fs NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 1126 RGS 2. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.G1125V(1) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TTTAAACAGAACCCCAAAAATT 0.277 ANGPT1 284 broad.mit.edu 37 8 108306187 108306188 + Frame_Shift_Del DEL TT TT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:108306186_108306187CTT>C uc003ymn.3 - 5 1483_1484 c.1015_1016AAG>G c.(1015-1017)agafs p.R339fs ANGPT1_uc011lhv.2_Frame_Shift_Del_p.R139fs|ANGPT1_uc003ymo.3_Frame_Shift_Del_p.R338fs|ANGPT1_uc003ymp.4_Frame_Shift_Del_p.R138fs NM_001146 NP_001137 Q15389 ANGP1_HUMAN Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA. 339 Fibrinogen C-terminal. Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CTTCCAGCCTCTTTGGAAATCT 0.366 MAPK15 225689 broad.mit.edu 37 8 144804319 144804319 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:144804318_144804318AG>A uc003yzj.3 + 13 1573 c.1532_1532AG>A c.(1531-1533)cagfs p.Q511fs NM_139021 NP_620590 Q8TD08 MK15_HUMAN Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA. 511 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGGGTGCCCAGGGGGGTGCC 0.667 CYC1 1537 broad.mit.edu 37 8 145150906 145150908 + In_Frame_Del DEL CCT CCT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr8:145150905_145150907GCCT>G uc003zaz.4 + 1 342_344 c.299_301GCCT>G c.(298-303)ggcctc>gGtc p.L102del CYC1_uc003zay.3_In_Frame_Del_p.L43del NM_001916 NP_001907 P08574 CY1_HUMAN Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA. 102 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCTCACCGTGGCCTCCTCTCTTC 0.645 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ERMP1 79956 broad.mit.edu 37 9 5805191 5805191 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:5805190_5805190TA>T uc003zjm.1 - 9 1805 c.1751_1751TA>A c.(1750-1752)tacfs p.Y584fs ERMP1_uc022bdc.1_Intron|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Frame_Shift_Del_p.Y198fs NM_024896 NP_079172 Q7Z2K6 ERMP1_HUMAN Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA. 584 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) CCCCAAAAGGTAAAAAGCAAT 0.373 PTPRD 5789 broad.mit.edu 37 9 8518185 8518185 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:8518184_8518184GC>G uc003zkk.3 - 20 1950 c.1207_1207GC>C c.(1207-1209)cctfs p.P403fs PTPRD_uc003zkp.3_Frame_Shift_Del_p.P403fs|PTPRD_uc003zkq.3_Frame_Shift_Del_p.P403fs|PTPRD_uc003zkr.3_Frame_Shift_Del_p.P397fs|PTPRD_uc003zks.3_Frame_Shift_Del_p.P393fs|PTPRD_uc022bdj.1_Frame_Shift_Del_p.P400fs NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 403 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.G402G(1)|p.G402W(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCGCTGGGAGGCCCCCGCCCA 0.537 TSP Lung(15;0.13) KIAA1045 23349 broad.mit.edu 37 9 34977144 34977144 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:34977143_34977143CG>C uc003zvq.3 + 5 1091 c.913_913CG>C c.(913-915)cggfs p.R305fs KIAA1045_uc003zvr.3_Frame_Shift_Del_p.R305fs NM_015297 NP_056112 Q9UPV7 K1045_HUMAN Homo sapiens KIAA1045 (KIAA1045), mRNA. 305 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) CTTCCTGGCTCGGGGCAGTGG 0.597 C9orf131 138724 broad.mit.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:35043649_35043649AC>A uc003zvw.3 + 1 1052 c.1023_1023AC>A c.(1021-1023)ccafs p.P341fs C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 341 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CTCCGATGCCACCCCCCTGCC 0.527 RUSC2 9853 broad.mit.edu 37 9 35547974 35547974 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:35547973_35547973AC>A uc003zww.3 + 1 1710 c.1455_1455AC>A c.(1453-1455)tcafs p.S485fs RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Frame_Shift_Del_p.S485fs NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA. 485 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CGAATACTTCACCCCCCAACC 0.597 VPS13A 23230 broad.mit.edu 37 9 79984308 79984308 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:79984307_79984307AT>A uc004akr.3 + 62 8906 c.8646_8646AT>A c.(8644-8646)gcafs p.A2882fs VPS13A_uc004akp.4_Frame_Shift_Del_p.A2882fs|VPS13A_uc004akq.4_Frame_Shift_Del_p.A2882fs|VPS13A_uc004aks.3_Frame_Shift_Del_p.A2843fs NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 2882 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GTGTAGAAGCATTTTTTTATG 0.299 UBQLN1 29979 broad.mit.edu 37 9 86284162 86284164 + In_Frame_Del DEL ACA ACA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:86284161_86284163GACA>G uc004amv.3 - 6 1759_1761 c.1185_1187TGTC>C c.(1183-1188)ttgtct>ttCt p.395_396LS>F UBQLN1_uc004amw.3_In_Frame_Del_p.395_396LS>F NM_013438 NP_038466 Q9UMX0 UBQL1_HUMAN Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA. 395 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding p.L395L(1) breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 GTAGGGGGCAGACAACATGTTTT 0.409 BAAT 570 broad.mit.edu 37 9 104133686 104133686 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:104133685_104133685AT>A uc010mtd.3 - 1 111 c.2_2AT>T c.(1-3)atgfs p.M1fs BAAT_uc004bbd.4_Frame_Shift_Del_p.M1fs NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 1 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CAACTGGATCATTTTTTTAGT 0.428 SMC2 10592 broad.mit.edu 37 9 106862450 106862450 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:106862449_106862449GA>G uc004bbv.3 + 5 844 c.556_556GA>G c.(556-558)gaafs p.E186fs SMC2_uc004bbu.1_Frame_Shift_Del_p.E186fs|SMC2_uc004bbw.3_Frame_Shift_Del_p.E186fs|SMC2_uc011lvl.2_Frame_Shift_Del_p.E186fs|SMC2_uc010mtg.1_Frame_Shift_Del_p.E41fs|SMC2_uc010mth.1_Frame_Shift_Del_p.E136fs|SMC2_uc004bbx.3_Frame_Shift_Del_p.E186fs NM_001042551 NP_006435 O95347 SMC2_HUMAN Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA. 186 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity p.E186K(2) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 GAAAACTATAGAAAAAAAGGA 0.299 KIAA0368 23392 broad.mit.edu 37 9 114125875 114125875 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:114125874_114125874GT>G uc004bfe.1 - 49 5908 c.5908_5908AC>C c.(5908-5910)cttfs p.L1970fs NM_001080398 NP_001073867 Homo sapiens KIAA0368 (KIAA0368), mRNA. NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TTACCTTCAAGTTTTTTAAGC 0.343 ASTN2 23245 broad.mit.edu 37 9 119382602 119382602 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:119382601_119382601AG>A uc004bjt.2 - 16 3142 c.3041_3041CT>T c.(3040-3042)cttfs p.L1014fs ASTN2_uc022bml.1_Frame_Shift_Del_p.L710fs|ASTN2_uc022bmm.1_Frame_Shift_Del_p.L714fs|ASTN2_uc004bjp.2_Frame_Shift_Del_p.L166fs|ASTN2_uc011lxr.2_Frame_Shift_Del_p.L117fs|ASTN2_uc011lxs.2_Frame_Shift_Del_p.L117fs|ASTN2_uc011lxt.2_Frame_Shift_Del_p.L117fs|ASTN2_uc004bjq.2_Frame_Shift_Del_p.L117fs|ASTN2_uc022bmn.1_Frame_Shift_Del_p.L117fs NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 1065 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGCTGCAGAAGGGGGCTGCA 0.567 GTF3C5 9328 broad.mit.edu 37 9 135919245 135919245 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:135919244_135919244TC>T uc004ccj.4 + 2 840 c.503_503TC>T c.(502-504)atcfs p.I168fs GTF3C5_uc010mzz.2_Frame_Shift_Del_p.I43fs|GTF3C5_uc004cci.4_Frame_Shift_Del_p.I168fs NM_001122823 NP_001116295 Q9Y5Q8 TF3C5_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA. 168 transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) CCGCTCTACATCCCCCCACCC 0.617 NOTCH1 4851 broad.mit.edu 37 9 139396543 139396543 + Splice_Site DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:139396542_139396542TG>T uc004chz.3 - 29 5385 c.5385_splice c.e29-1 p.K1795_splice NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 1795 Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TTCAGGGGCCTGGGGGGTGAG 0.672 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) C9orf142 286257 broad.mit.edu 37 9 139887572 139887573 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr9:139887571_139887572A>AG uc004cki.3 + 3 323_324 c.297_298A>AG c.(295-300)tcagggfs p.S99fs NM_183241 NP_899064 Q9BUH6 CI142_HUMAN Homo sapiens chromosome 9 open reading frame 142 (C9orf142), mRNA. 99 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGACGCTTTCAGGGGGGCCCTC 0.658 LARP4B 23185 broad.mit.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:890938_890938GT>G uc001ifs.1 - 4 529 c.488_488AC>C c.(487-489)acafs p.T163fs NM_015155 NP_055970 Q92615 LAR4B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA. 163 HTH La-type RNA-binding. RNA binding|nucleotide binding p.T163P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 GAATTCCAATGTTTTTTTAAG 0.353 PTER 9317 broad.mit.edu 37 10 16547037 16547038 + Frame_Shift_Del DEL AG AG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:16547036_16547037AAG>A uc001iog.1 + 4 923_924 c.716_717AAG>A c.(715-717)aaafs p.K239fs PTER_uc001ioh.1_Frame_Shift_Del_p.K239fs|PTER_uc001ioi.1_Frame_Shift_Del_p.K239fs|PTER_uc009xjp.1_Intron NM_030664 NP_109589 Q96BW5 PTER_HUMAN Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA. 239 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 CTTGATAAGAAAGAGCTCTTGG 0.396 MYO3A 53904 broad.mit.edu 37 10 26462760 26462761 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:26462759_26462760C>CA uc001isn.2 + 29 3926_3927 c.3566_3567C>CA c.(3565-3567)ccafs p.P1189fs MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1189 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.M1192fs*1(2) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TATCAGACTCCAAAAAAAATGA 0.401 ANKRD26 22852 broad.mit.edu 37 10 27324556 27324560 + Frame_Shift_Del DEL TTTCT TTTCT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:27324555_27324559ATTTCT>A uc009xku.1 - 23 2992_2996 c.2820_2824AGAAAT>T c.(2818-2826)aagaaatgtfs p.K940fs ANKRD26_uc001itg.2_Frame_Shift_Del_p.K626fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.K939fs NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA. 939 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TCCTCAAAACATTTCTTTTCTTTTT 0.298 MASTL 84930 broad.mit.edu 37 10 27459056 27459056 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:27459055_27459055TA>T uc001itm.3 + 7 1770 c.1167_1167TA>T c.(1165-1167)gctfs p.A389fs MASTL_uc001itl.3_Frame_Shift_Del_p.A389fs|MASTL_uc009xkw.2_Frame_Shift_Del_p.A389fs|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. 389 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 p.C392fs*17(2) 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 TAAACCTTGCTAAAAAATGCT 0.413 SVIL 6840 broad.mit.edu 37 10 29812506 29812506 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:29812505_29812505TC>T uc001iut.1 - 14 3791 c.3038_3038GA>A c.(3037-3039)gatfs p.D1013fs SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Frame_Shift_Del_p.D587fs NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 1013 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CTTCGGTTCATCCCCGAGGTG 0.512 ADK 132 broad.mit.edu 37 10 76158266 76158266 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:76158265_76158265TA>T uc001jwi.3 + 5 577 c.483_483TA>T c.(481-483)tatfs p.Y161fs ADK_uc010qlb.2_Frame_Shift_Del_p.Y161fs|ADK_uc001jwj.3_Frame_Shift_Del_p.Y144fs|ADK_uc010qlc.2_Frame_Shift_Del_p.Y126fs NM_006721 NP_006712 P55263 ADK_HUMAN Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA. 161 purine base metabolic process|purine ribonucleoside salvage cytosol ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 8 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811) CCAATTGTTATAAAAAGGAAA 0.313 ZMIZ1 57178 broad.mit.edu 37 10 81053206 81053206 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:81053205_81053205TG>T uc001kaf.2 + 11 1597 c.1025_1025TG>T c.(1024-1026)atgfs p.M342fs ZMIZ1_uc001kag.2_Frame_Shift_Del_p.M218fs|ZMIZ1_uc001kah.1_Frame_Shift_Del_p.M224fs NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 342 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCTGCCTCCATGGGGGGCAGC 0.672 PTEN 5728 broad.mit.edu 37 10 89717770 89717771 + Frame_Shift_Ins INS - - A rs121913289 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:89717769_89717770T>TA uc001kfb.3 + 6 1826_1827 c.794_795T>TA c.(793-795)ctafs p.L265fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 265 C2 tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.K267fs*9(4)|p.M264fs*8(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AACAAGATGCTAAAAAAGGTTT 0.347 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) CYP26A1 1592 broad.mit.edu 37 10 94837050 94837051 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:94837049_94837050T>TG uc001kil.2 + 6 1527_1528 c.1482_1483T>TG c.(1480-1485)catgggfs p.H494fs CYP26A1_uc001kik.1_Frame_Shift_Ins_p.H425fs NM_000783 NP_000774 O43174 CP26A_HUMAN Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA. 494 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) CCCATTTCCATGGGGAAATCTG 0.406 RRP12 23223 broad.mit.edu 37 10 99120328 99120330 + In_Frame_Del DEL CTC CTC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:99120327_99120329GCTC>G uc001knf.3 - 30 3753_3755 c.3614_3616GAGC>C c.(3613-3618)gagctg>gCtg p.1205_1206EL>A RRP12_uc001kne.3_In_Frame_Del_p.220_221EL>A|RRP12_uc009xvl.3_In_Frame_Del_p.322_323EL>A|RRP12_uc009xvm.3_In_Frame_Del_p.923_924EL>A|RRP12_uc010qou.2_In_Frame_Del_p.1144_1145EL>A|RRP12_uc009xvn.3_In_Frame_Del_p.1105_1106EL>A NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA. 1205 integral to membrane|nuclear membrane|nucleolus protein binding p.E1205*(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GGTATCTCCAGCTCCTCCTCCTC 0.557 SEC31B 25956 broad.mit.edu 37 10 102265160 102265160 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:102265159_102265159GT>G uc001krc.1 - 9 1240 c.1138_1138AC>C c.(1138-1140)cccfs p.P380fs SEC31B_uc010qpo.1_Frame_Shift_Del_p.P379fs|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_3'UTR|SEC31B_uc009xwn.1_3'UTR|SEC31B_uc009xwo.1_3'UTR|SEC31B_uc010qpq.1_3'UTR NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA. 380 protein transport|vesicle-mediated transport ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CATTTGGGGGGTTTTTTCAGG 0.507 C10orf2 56652 broad.mit.edu 37 10 102748985 102748985 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:102748984_102748984AC>A uc001ksf.2 + 0 1692 c.1017_1017AC>A c.(1015-1017)caafs p.Q339fs MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Frame_Shift_Del_p.Q339fs|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript NM_021830 NP_068602 Q96RR1 PEO1_HUMAN Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. 339 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GAGACCAGCAACCCCGTCCCC 0.577 RAB11FIP2 22841 broad.mit.edu 37 10 119805326 119805326 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:119805325_119805325GT>G uc001ldj.2 - 0 790 c.350_350AC>C c.(349-351)acafs p.T117fs RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.T117fs|CASC2_uc001ldm.4_5'Flank|CASC2_uc009xzc.3_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xzb.3_5'Flank|CASC2_uc009xza.3_5'Flank NM_014904 NP_055719 Q7L804 RFIP2_HUMAN Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA. 117 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) AACTTACTCTGTTTTCCTTCT 0.363 OAT 4942 broad.mit.edu 37 10 126100644 126100644 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr10:126100643_126100643GT>G uc001lhp.3 - 1 231 c.98_98AC>C c.(97-99)acafs p.T33fs OAT_uc001lhr.3_Intron|OAT_uc001lhq.3_Non-coding_Transcript NM_000274 NP_001165285 P04181 OAT_HUMAN Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 33 cellular amino acid biosynthetic process|visual perception mitochondrial matrix ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding endometrium(2)|large_intestine(1)|lung(2) 5 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114) GCCTTGGACTGTTTTTTTAGT 0.428 STK33 65975 broad.mit.edu 37 11 8457623 8457623 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:8457622_8457622CT>C uc001mgi.1 - 8 1931 c.1012_1012AG>G c.(1012-1014)ggafs p.G338fs STK33_uc001mgj.1_Frame_Shift_Del_p.G338fs|STK33_uc001mgk.1_Frame_Shift_Del_p.G338fs|STK33_uc010rbn.1_Frame_Shift_Del_p.G297fs|STK33_uc001mgl.3_Frame_Shift_Del_p.G151fs|STK33_uc009yfp.3_Frame_Shift_Del_p.G60fs NM_030906 NP_112168 Q9BYT3 STK33_HUMAN Homo sapiens serine/threonine kinase 33 (STK33), mRNA. 338 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TGTAGTTCTCCTTTTCTTATT 0.323 KCNC1 3746 broad.mit.edu 37 11 17794004 17794004 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:17794003_17794003GA>G uc009yhc.1 + 1 1417 c.1362_1362GA>G c.(1360-1362)aagfs p.K454fs KCNC1_uc001mnk.4_Frame_Shift_Del_p.K454fs NM_001112741 NP_001106212 P48547 KCNC1_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA. 454 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 AACTACCAAAGAAAAAAAAGA 0.502 SPTY2D1 144108 broad.mit.edu 37 11 18636367 18636367 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:18636366_18636366CG>C uc001moy.3 - 2 1671 c.1455_1455CG>G c.(1453-1455)ccgfs p.P485fs SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.P485fs NM_194285 NP_919261 Q68D10 SPT2_HUMAN Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA. 485 Ser-rich. p.P485P(2) breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 CAGACCGCCCCGGGGGGCCCA 0.602 OR4C16 219428 broad.mit.edu 37 11 55339686 55339686 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:55339685_55339685AT>A uc010rih.2 + 0 82 c.82_82AT>A c.(82-84)attfs p.I28fs NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) AGTGTTTGTTATTTTTTTGCG 0.388 SSRP1 6749 broad.mit.edu 37 11 57093935 57093937 + In_Frame_Del DEL TTC TTC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:57093934_57093936GTTC>G uc001njt.3 - 16 2342_2344 c.2075_2077GAAC>C c.(2074-2079)gaacta>gCta p.692_693EL>A TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank NM_003146 NP_003137 Q08945 SSRP1_HUMAN Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA. 692 Ser-rich. DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 GTACTGGCTAGTTCTTCTTCTTC 0.552 FEN1 2237 broad.mit.edu 37 11 61563431 61563431 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:61563430_61563430CA>C uc021qkj.1 + 0 597 c.597_597CA>C c.(595-597)gccfs p.A199fs FEN1_uc001nsg.3_Frame_Shift_Del_p.A199fs NM_004111 NP_004102 P39748 FEN1_HUMAN Homo sapiens flap structure-specific endonuclease 1 (FEN1), mRNA. 199 I-domain. DNA replication, removal of RNA primer|S phase of mitotic cell cycle|UV protection|base-excision repair|double-strand break repair|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 CCAGTGAAGCCAAAAAGCTGC 0.567 Editing and processing nucleases METTL12 751071 broad.mit.edu 37 11 62434112 62434112 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:62434111_62434111TG>T uc001nug.1 + 2 570 c.311_311TG>T c.(310-312)ctgfs p.L104fs C11orf48_uc001nuf.3_Intron|METTL12_uc001nuh.3_Frame_Shift_Del_p.W146fs|METTL12_uc010rmc.1_Non-coding_Transcript NM_001043229 NP_001036694 A8MUP2 MTL12_HUMAN Homo sapiens methyltransferase like 12 (METTL12), nuclear gene encoding mitochondrial protein, mRNA. 104 mitochondrion methyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 6 GTGGATGTGCTGGGGGTGGAC 0.602 GPHA2 170589 broad.mit.edu 37 11 64702507 64702509 + In_Frame_Del DEL TGT TGT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:64702506_64702508ATGT>A uc001oca.3 - 2 298_300 c.243_245ACAT>T c.(241-246)aacatc>aaTc p.I82del NM_130769 NP_570125 Q96T91 GPHA2_HUMAN Homo sapiens glycoprotein hormone alpha 2 (GPHA2), mRNA. 82 extracellular region hormone activity central_nervous_system(1)|endometrium(1)|prostate(1) 3 GACGGAGGTGATGTTGTGTCGGT 0.645 TIGD3 220359 broad.mit.edu 37 11 65123714 65123714 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:65123713_65123713TC>T uc021qlj.1 + 0 434 c.434_434TC>T c.(433-435)ttcfs p.F145fs TIGD3_uc001odo.4_Frame_Shift_Del_p.F145fs NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA. 145 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 GCGCCTTCATTCCCCCCTGAG 0.607 KCNK7 10089 broad.mit.edu 37 11 65360486 65360486 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:65360485_65360485AG>A uc001oes.3 - 2 1139 c.915_915CT>T c.(913-915)cctfs p.P305fs KCNK7_uc001oeq.3_3'UTR|KCNK7_uc001oer.3_3'UTR|KCNK7_uc001oeu.3_3'UTR NM_033347 NP_203133 Q9Y2U2 KCNK7_HUMAN Homo sapiens potassium channel, subfamily K, member 7 (KCNK7), transcript variant A, mRNA. 305 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|liver(1)|lung(1) 3 TTCAGCAAGCAGGGGCTTGTC 0.632 PITPNM1 9600 broad.mit.edu 37 11 67267649 67267649 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:67267648_67267648TG>T uc001olx.3 - 4 1074 c.885_885CA>A c.(883-885)ccafs p.P295fs PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Frame_Shift_Del_p.P295fs|PITPNM1_uc001olz.3_Frame_Shift_Del_p.P295fs NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 295 brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 CATCTGGGCCTGGGGGGGCCT 0.692 LRP5 4041 broad.mit.edu 37 11 68133093 68133093 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:68133092_68133092TC>T uc001ont.3 + 4 1012 c.937_937TC>T c.(937-939)tccfs p.S313fs LRP5_uc009ysg.3_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 313 EGF-like 1. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTGCCTGCTGTCCCCAAGCGA 0.622 CWF19L2 143884 broad.mit.edu 37 11 107299981 107299981 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:107299980_107299980AT>A uc010rvp.2 - 7 1008 c.978_978AT>T c.(976-978)aatfs p.N326fs CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA. 326 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) CATTATTGCTATTTTTTGCAG 0.323 DDX6 1656 broad.mit.edu 37 11 118629614 118629615 + Splice_Site INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:118629613_118629614T>TG uc001pub.2 - 9 1226 c.865_splice c.e9-1 p.N289_splice DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice NM_004397 NP_004388 P26196 DDX6_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA. 289 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL ARHGAP32 9743 broad.mit.edu 37 11 128851757 128851757 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:128851756_128851756AT>A uc009zcp.3 - 14 1560 c.1560_1560AT>T c.(1558-1560)aatfs p.N520fs ARHGAP32_uc009zcq.2_Frame_Shift_Del_p.N480fs|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Frame_Shift_Del_p.N171fs NM_001142685 NP_055530 A7KAX9 RHG32_HUMAN Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA. 520 Rho-GAP. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CAATTGCTAGATTTTTTGCAT 0.328 THYN1 29087 broad.mit.edu 37 11 134120196 134120198 + In_Frame_Del DEL TGT TGT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr11:134120195_134120197ATGT>A uc001qhf.3 - 3 365_367 c.263_265ACAT>T c.(262-267)acatgc>aTgc p.88_89TC>M THYN1_uc001qhg.3_In_Frame_Del_p.88_89TC>M|THYN1_uc001qhh.3_In_Frame_Del_p.88_89TC>M|THYN1_uc001qhi.3_In_Frame_Del_p.88_89TC>M|THYN1_uc001qhj.3_In_Frame_Del_p.88_89TC>M|THYN1_uc009zdb.3_In_Frame_Del_p.88_89TC>M NM_001037305 NP_954995 Q9P016 THYN1_HUMAN Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA. 88 nucleus endometrium(2)|kidney(1)|lung(3)|pancreas(1) 7 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) CCATCCCAGCATGTTGTCTGTTT 0.478 GUCY2C 2984 broad.mit.edu 37 12 14796510 14796510 + Splice_Site DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:14796509_14796509CT>C uc001rcd.3 - 17 2067 c.1930_splice c.e17+1 p.D644_splice NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 644 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ATTACAGACCCTTTTTTGGAG 0.388 ART4 420 broad.mit.edu 37 12 14993971 14993971 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:14993970_14993970CT>C uc001rcl.1 - 1 628 c.262_262AG>G c.(262-264)gaafs p.E88fs ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Frame_Shift_Del_p.E88fs NM_021071 NP_066549 Q93070 NAR4_HUMAN Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA. 88 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 TTCTGGGCTTCTATGTCTTTT 0.433 ALG10B 144245 broad.mit.edu 37 12 38714491 38714491 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:38714490_38714490CT>C uc001rln.4 + 2 1036 c.897_897CT>C c.(895-897)ctcfs p.L299fs NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA. 299 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) CATTTACTCTCTTTTTTTCTT 0.348 SENP1 29843 broad.mit.edu 37 12 48477548 48477548 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:48477547_48477547TA>T uc001rqx.3 - 6 827 c.381_splice c.e6-1 p.S127_splice SENP1_uc001rqw.3_Splice_Site_p.S127_splice|SENP1_uc001rqy.3_Splice_Site|SENP1_uc001rqz.3_Splice_Site|SENP1_uc009zkx.3_Splice_Site_p.S127_splice NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA. 127 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus SUMO-specific protease activity|endopeptidase activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) GATAATCCACTAAAAAAAGAG 0.303 MAP3K12 7786 broad.mit.edu 37 12 53877706 53877708 + In_Frame_Del DEL CCT CCT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:53877705_53877707CCCT>C uc001sdn.2 - 7 1617_1619 c.1346_1348AGGG>G c.(1345-1350)agggag>aGag p.E451del MAP3K12_uc001sdm.2_In_Frame_Del_p.E418del NM_001193511 NP_001180440 Q12852 M3K12_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA. 418 Leucine-zipper 2. JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CTGAGCTCCTCCCTCCTCCTCAT 0.547 OR9K2 441639 broad.mit.edu 37 12 55524524 55524524 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:55524523_55524523TA>T uc010spe.2 + 0 971 c.971_971TA>T c.(970-972)ctafs p.L324fs NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA. 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 CAAGAGGCTCTAAAAAAATTT 0.328 PA2G4 5036 broad.mit.edu 37 12 56505302 56505303 + Frame_Shift_Ins INS - - A rs149549286 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:56505301_56505302G>GA uc001sjm.3 + 11 1526_1527 c.1107_1108G>GA c.(1105-1110)aagaaafs p.K369fs NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA. 369 Interaction with RNA (By similarity).|Necessary for nucleolar localization. cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) CCCAGAAAAAGAAAAAAAAGAA 0.386 SMARCC2 6601 broad.mit.edu 37 12 56566437 56566438 + Frame_Shift_Del DEL TC TC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:56566436_56566437TTC>T uc001skb.3 - 17 1808_1809 c.1702_1703GAA>A c.(1702-1704)aaafs p.K568fs SMARCC2_uc001skd.3_Frame_Shift_Del_p.K599fs|SMARCC2_uc001ska.3_Frame_Shift_Del_p.K599fs|SMARCC2_uc001skc.3_Frame_Shift_Del_p.K598fs|SMARCC2_uc010sqf.2_Frame_Shift_Del_p.K488fs NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA. 568 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GTCTGTTGGTTTCTCTTTGCCT 0.495 LRP1 4035 broad.mit.edu 37 12 57572242 57572243 + Frame_Shift_Ins INS - - G rs139915490 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:57572241_57572242C>CG uc001snd.3 + 26 4927_4928 c.4461_4462C>CG c.(4459-4464)tacgggfs p.Y1487fs NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1487 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGCTGTACGGGGGGGAGGT 0.589 MBD6 114785 broad.mit.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:57921400_57921400AC>A uc001soj.1 + 7 2417 c.2193_2193AC>A c.(2191-2193)agafs p.R731fs MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 731 Pro-rich. chromosome|nucleus DNA binding|chromatin binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 ACTCAGGGAGACCCCCCCAAC 0.602 DTX3 196403 broad.mit.edu 37 12 58000970 58000970 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:58000969_58000969TG>T uc001sow.1 + 4 660 c.323_323TG>T c.(322-324)ctgfs p.L108fs DTX3_uc001sov.1_Frame_Shift_Del_p.L101fs|DTX3_uc001sox.1_Frame_Shift_Del_p.L101fs|DTX3_uc001soy.1_Frame_Shift_Del_p.L101fs|ARHGEF25_uc009zpy.3_5'Flank NM_178502 NP_848597 Q8N9I9 DTX3_HUMAN Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA. 108 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) TGCCTGGCTCTGGGGGGTGGA 0.667 CYP27B1 1594 broad.mit.edu 37 12 58157486 58157486 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:58157485_58157485TG>T uc001spz.1 - 7 1474 c.1322_1322CA>A c.(1321-1323)cacfs p.H441fs CYP27B1_uc001sqa.1_Frame_Shift_Del_p.H206fs NM_000785 NP_000776 O15528 CP27B_HUMAN Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA. 441 G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|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 p.H441fs*33(1) central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 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) TGCAAATGGGTGGGGGGTGGG 0.577 EEA1 8411 broad.mit.edu 37 12 93213103 93213103 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:93213102_93213102GT>G uc001tck.3 - 13 1975 c.1710_1710AC>C c.(1708-1710)aacfs p.N570fs NM_003566 NP_003557 Q15075 EEA1_HUMAN Homo sapiens early endosome antigen 1 (EEA1), mRNA. 570 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 GTAGTGTATGGTTTTTTTCTT 0.294 HCFC2 29915 broad.mit.edu 37 12 104476625 104476625 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:104476624_104476624CA>C uc001tkj.4 + 6 1111 c.1008_1008CA>C c.(1006-1008)tacfs p.Y336fs HCFC2_uc009zul.3_Non-coding_Transcript NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN Homo sapiens host cell factor C2 (HCFC2), mRNA. 336 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GAGATGGCTACAAAAAAGCAC 0.383 NAA25 80018 broad.mit.edu 37 12 112513482 112513482 + Splice_Site DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:112513481_112513481CT>C uc001ttm.3 - 8 834 c.776_splice c.e8+1 p.N259_splice NAA25_uc001ttn.4_Splice_Site|NAA25_uc009zvz.2_Splice_Site_p.N231_splice|NAA25_uc009zwa.2_Splice_Site_p.N259_splice NM_024953 NP_079229 Q14CX7 NAA25_HUMAN Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA. 259 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 CTTTTACTCACTTTTTTAGTA 0.423 C12orf51 283450 broad.mit.edu 37 12 112600860 112600861 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:112600859_112600860T>TG uc021reb.1 - 74 13100_13101 c.12704_12705A>CA c.(12703-12705)ccafs p.P4235fs NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 CTGTGCCATCTGGGGGGGCGAT 0.629 ZCCHC8 55596 broad.mit.edu 37 12 122975046 122975046 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:122975045_122975045AT>A uc001ucn.3 - 3 543 c.387_387AT>T c.(385-387)aatfs p.N129fs ZCCHC8_uc009zxp.3_5'UTR|ZCCHC8_uc009zxq.3_5'UTR NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA. 129 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TTTCCACATCATTTTTCTGCT 0.343 SBNO1 55206 broad.mit.edu 37 12 123794283 123794284 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:123794282_123794283A>AT uc010tap.2 - 24 3416_3417 c.3416_3417T>AT c.(3415-3417)aatfs p.N1139fs SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CATATCTTCCATTTTTTTTGGC 0.386 NOC4L 79050 broad.mit.edu 37 12 132632321 132632321 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr12:132632320_132632320AC>A uc001ujz.1 + 4 637 c.596_596AC>A c.(595-597)cacfs p.H199fs NM_024078 NP_076983 Q9BVI4 NOC4L_HUMAN Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA. 199 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) ACTGGCCAGCACCCCGAGGTG 0.687 BRCA2 675 broad.mit.edu 37 13 32954023 32954024 + Frame_Shift_Ins INS - - A rs67201695 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:32954022_32954023C>CA uc001uub.1 + 22 9316_9317 c.9089_9090C>CA c.(9088-9090)acafs p.T3030fs NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 3030 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTAGCAGCGACAAAAAAAACTC 0.312 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) N4BP2L2 10443 broad.mit.edu 37 13 33017685 33017686 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:33017684_33017685A>AT uc010abe.1 - 6 1011_1012 c.989_990T>AT c.(988-990)aatfs p.N330fs N4BP2L2_uc001uug.2_Frame_Shift_Ins_p.N213fs|N4BP2L2_uc010abd.1_Frame_Shift_Ins_p.N243fs|N4BP2L2_uc001uuh.2_Frame_Shift_Ins_p.N161fs|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Frame_Shift_Ins_p.N315fs|N4BP2L2_uc021rhy.1_5'Flank NM_033111 NP_149102 Q92802 N42L2_HUMAN Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA. 0 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) CATGTGAGAGATTTTTATCTAC 0.361 SLITRK5 26050 broad.mit.edu 37 13 88330397 88330397 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:88330396_88330396GC>G uc001vln.3 + 1 2972 c.2753_2753GC>G c.(2752-2754)agcfs p.S918fs SLITRK5_uc010tic.1_Frame_Shift_Del_p.S677fs|SLITRK5_uc021rlc.1_Frame_Shift_Del_p.S918fs NM_015567 NP_056382 O94991 SLIK5_HUMAN Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA. 918 integral to membrane p.S918I(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTGCTCTACAGCCCCCCGAGT 0.542 ABCC4 10257 broad.mit.edu 37 13 95735432 95735432 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:95735431_95735431CA>C uc001vmd.4 - 20 2768 c.2649_2649TG>G c.(2647-2649)ttgfs p.L883fs ABCC4_uc010afk.3_Frame_Shift_Del_p.L836fs NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 883 ABC transmembrane type-1 2. 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 breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTGACGTTTCCAAAAAATATC 0.438 DZIP1 22873 broad.mit.edu 37 13 96241464 96241464 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:96241463_96241463TA>T uc001vmk.3 - 19 2826 c.1974_splice c.e19-1 p.K658_splice DZIP1_uc001vmj.3_Splice_Site_p.K134_splice|DZIP1_uc001vml.3_Splice_Site_p.K639_splice NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 658 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TTCTTAATTCTAAAAAAACAA 0.279 COL4A1 1282 broad.mit.edu 37 13 110838866 110838867 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:110838865_110838866A>AG uc001vqw.4 - 25 1885_1886 c.1763_1764T>CT c.(1762-1764)cctfs p.P588fs NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 588 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAACTCCTCCAGGGGGGCCACG 0.554 GAS6 2621 broad.mit.edu 37 13 114542718 114542718 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr13:114542717_114542717GC>G uc001vud.3 - 4 603 c.450_450GC>C c.(448-450)ggcfs p.G150fs FLJ41484_uc010tki.2_5'Flank NM_000820 NP_001137417 Q14393 GAS6_HUMAN Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA. 150 EGF-like 1; calcium-binding (Potential). cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CGCAGAGCCGGCCCCCCCAGC 0.647 ACIN1 22985 broad.mit.edu 37 14 23532172 23532172 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:23532171_23532171GC>G uc001wit.4 - 13 3352 c.3024_3024GC>C c.(3022-3024)ggcfs p.G1008fs ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Frame_Shift_Del_p.G250fs|ACIN1_uc001wiq.4_Frame_Shift_Del_p.G250fs|ACIN1_uc001wir.4_Frame_Shift_Del_p.G281fs|ACIN1_uc001wis.4_Frame_Shift_Del_p.G689fs|ACIN1_uc010akg.3_Frame_Shift_Del_p.G995fs|ACIN1_uc010tnj.2_Frame_Shift_Del_p.G968fs NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA. 1008 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TGCTAATCTTGCCCCGGGGTG 0.488 EAPP 55837 broad.mit.edu 37 14 34998660 34998661 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:34998659_34998660C>CT uc001wsd.1 - 3 483_484 c.374_375G>AG c.(373-375)aagfs p.K125fs NM_018453 NP_060923 Q56P03 EAPP_HUMAN Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA. 125 Poly-Lys. negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 12 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) GTTGTTTCTTCTTTTTTTTCTT 0.366 SLC25A21 89874 broad.mit.edu 37 14 37180581 37180581 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:37180580_37180580GA>G uc001wtz.2 - 6 856 c.546_546TC>C c.(544-546)ttcfs p.F182fs SLC25A21_uc021rsf.1_Frame_Shift_Del_p.F182fs NM_030631 NP_085134 Q9BQT8 ODC_HUMAN Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 182 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) AAACCATGTTGAAAACTCCAT 0.383 SOS2 6655 broad.mit.edu 37 14 50649247 50649248 + Frame_Shift_Del DEL TG TG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:50649246_50649247CTG>C uc001wxs.4 - 5 890_891 c.792_793CAG>G c.(790-795)acagttfs p.T264fs SOS2_uc010tql.2_Frame_Shift_Del_p.T264fs|SOS2_uc001wxt.2_5'Flank NM_006939 NP_008870 Q07890 SOS2_HUMAN Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA. 264 DH. 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 cytosol DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) GTCATTTCAACTGTGTCTTCAA 0.332 GNPNAT1 64841 broad.mit.edu 37 14 53250196 53250196 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:53250195_53250195TA>T uc001xab.3 - 2 418 c.163_163TA>A c.(163-165)aagfs p.K55fs NM_198066 NP_932332 Q96EK6 GNA1_HUMAN Homo sapiens glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1), mRNA. 55 N-acetyltransferase. UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|cytosol|endosome membrane glucosamine 6-phosphate N-acetyltransferase activity liver(1)|lung(1)|prostate(1)|skin(1) 4 Breast(41;0.176) CCCAATACCTTAAAAAAACCT 0.348 ARID4A 5926 broad.mit.edu 37 14 58830972 58830972 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:58830971_58830971GA>G uc001xdp.3 + 19 2418 c.2164_2164GA>G c.(2164-2166)gaafs p.E722fs ARID4A_uc001xdo.3_Frame_Shift_Del_p.E722fs|ARID4A_uc001xdq.3_Frame_Shift_Del_p.E722fs|ARID4A_uc010apg.1_Frame_Shift_Del_p.E400fs NM_002892 NP_002883 P29374 ARI4A_HUMAN Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA. 722 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGATGAACTAGAAAAAAATGA 0.279 SLC38A6 145389 broad.mit.edu 37 14 61518564 61518564 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:61518563_61518563AT>A uc001xfh.2 + 13 1273 c.1109_1109AT>A c.(1108-1110)catfs p.H370fs SLC38A6_uc001xfg.2_Frame_Shift_Del_p.H370fs|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_Frame_Shift_Del_p.H347fs NM_001172702 NP_001166173 Q8IZM9 S38A6_HUMAN Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA. 370 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.0981) TGGATTCGCCATTTTTTGATC 0.328 SYNE2 23224 broad.mit.edu 37 14 64587757 64587758 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:64587756_64587757C>CA uc001xgl.3 + 67 13365_13366 c.13135_13136C>CA c.(13135-13137)caafs p.Q4379fs SYNE2_uc001xgm.3_Frame_Shift_Ins_p.Q4379fs|SYNE2_uc021ruh.1_Frame_Shift_Ins_p.Q4394fs|SYNE2_uc010apy.3_Frame_Shift_Ins_p.Q764fs|SYNE2_uc010apz.1_Frame_Shift_Ins_p.Q271fs NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 4379 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATTCAGCAGACAAAAAGATTTC 0.426 ZBTB25 7597 broad.mit.edu 37 14 64954534 64954534 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:64954533_64954533GT>G uc001xhf.3 - 2 599 c.416_416AC>C c.(415-417)acafs p.T139fs ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Frame_Shift_Del_p.T139fs NM_006977 NP_008908 P24278 ZBT25_HUMAN Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA. 139 cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 10 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) TTTGACAACTGTTTTTTGGGT 0.448 GALNTL1 57452 broad.mit.edu 37 14 69800300 69800301 + Frame_Shift_Ins INS - - G rs144140025 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 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 C14orf43 91748 broad.mit.edu 37 14 74196464 74196464 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:74196463_74196463TG>T uc010tud.1 - 2 2222 c.1975_1975CA>A c.(1975-1977)atcfs p.I659fs C14orf43_uc001xos.3_5'Flank|C14orf43_uc001xot.3_Frame_Shift_Del_p.I659fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.I659fs|C14orf43_uc010arw.2_Non-coding_Transcript NM_194278 NP_919254 Q6PJG2 CN043_HUMAN Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA. 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4) 37 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) GGGCTGAGGATGGGGGGCGGC 0.622 STON2 85439 broad.mit.edu 37 14 81743433 81743433 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:81743432_81743432GT>G uc010tvu.2 - 3 2421 c.2223_2223AC>C c.(2221-2223)aacfs p.N741fs STON2_uc001xvk.1_Frame_Shift_Del_p.N741fs|STON2_uc010tvt.2_Frame_Shift_Del_p.N538fs NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 741 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CCCTGCGGAAGTTTTTCACCC 0.537 TRIP11 9321 broad.mit.edu 37 14 92480823 92480824 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr14:92480822_92480823A>AT uc001xzy.3 - 6 1296_1297 c.922_923T>AT c.(922-924)atgfs p.M308fs TRIP11_uc010auf.2_Frame_Shift_Ins_p.M73fs NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 308 transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) AAGTTGTTCCATTTTTTTGGTA 0.307 T PDGFRB AML HERC2 8924 broad.mit.edu 37 15 28499647 28499648 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:28499646_28499647C>CT uc001zbj.3 - 19 2995_2996 c.2889_2890G>AG c.(2887-2892)aaagaafs p.K963fs HERC2_uc001zbl.1_Frame_Shift_Ins_p.K658fs NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 963 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTCTGTGCTTCTTTTTTGGCTT 0.401 FMN1 342184 broad.mit.edu 37 15 33192185 33192185 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:33192184_33192184CT>C uc001zhf.4 - 9 2981 c.2981_2981AG>G c.(2980-2982)agtfs p.S994fs NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN Homo sapiens formin 1 (FMN1), mRNA. 1217 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) AAATACCCGACTTTTGACATC 0.338 C15orf29 79768 broad.mit.edu 37 15 34455848 34455849 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:34455847_34455848G>GT uc001zhp.3 - 1 190_191 c.30_31C>AC c.(28-33)aaacggfs p.K10fs C15orf29_uc010ubz.2_Intron|C15orf29_uc010uca.1_Frame_Shift_Ins_p.K10fs NM_024713 NP_078989 Q9H079 CO029_HUMAN Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA. 10 nucleolus kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 5 all_lung(180;1.86e-06) all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229) CAAAAGTTCCGTTTTTTAACAT 0.287 TMEM62 80021 broad.mit.edu 37 15 43427812 43427812 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:43427811_43427811GA>G uc001zqr.3 + 2 673 c.394_394GA>G c.(394-396)gaafs p.E132fs TMEM62_uc010bda.3_Frame_Shift_Del_p.E2fs NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN Homo sapiens transmembrane protein 62 (TMEM62), mRNA. 132 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) AAGAGTCATGGAAAAAACCAA 0.433 B2M 567 broad.mit.edu 37 15 45003781 45003782 + Frame_Shift_Del DEL CT CT - rs11553044 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:45003780_45003781ACT>A uc001zuc.3 + 0 96_97 c.36_37ACT>A c.(34-39)ctactcfs p.L12fs B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs NM_004048 NP_004039 P61769 B2MG_HUMAN Homo sapiens beta-2-microglobulin (B2M), mRNA. 12 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction Golgi membrane|MHC class I protein complex|early endosome membrane protein binding p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TGCTCGCGCTACTCTCTCTTTC 0.614 B2M 567 broad.mit.edu 37 15 45007897 45007898 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:45007896_45007897T>TG uc001zuc.3 + 1 403_404 c.343_344T>TG c.(343-345)tggfs p.W115fs B2M_uc010uek.1_Frame_Shift_Ins_p.W115fs|B2M_uc010bdx.1_3'UTR NM_004048 NP_004039 P61769 B2MG_HUMAN Homo sapiens beta-2-microglobulin (B2M), mRNA. 115 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction Golgi membrane|MHC class I protein complex|early endosome membrane protein binding breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GATAGTTAAGTGGGGTAAGTCT 0.396 SPATA5L1 79029 broad.mit.edu 37 15 45710841 45710841 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:45710840_45710840GT>G uc001zve.3 + 6 2163 c.2054_2054GT>G c.(2053-2055)tgtfs p.C685fs SPATA5L1_uc001zvf.3_Non-coding_Transcript NM_024063 NP_076968 Q9BVQ7 SPA5L_HUMAN Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA. 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCT 0.363 TIPIN 54962 broad.mit.edu 37 15 66644525 66644532 + Frame_Shift_Del DEL CAGGTGCT CAGGTGCT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:66644524_66644531ACAGGTGCT>A uc002apr.2 - 2 234_241 c.148_155AGCACCTGT>T c.(148-156)gcacctgttfs p.A50fs TIPIN_uc010ujn.1_5'Flank|TIPIN_uc010ujo.1_5'UTR NM_017858 NP_060328 Q9BVW5 TIPIN_HUMAN Homo sapiens TIMELESS interacting protein (TIPIN), mRNA. 50 DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection cytoplasm|nuclear chromatin protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 7 AGGTACACGAACAGGTGCTCCATTTCCT 0.312 CYP1A2 1544 broad.mit.edu 37 15 75042781 75042781 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:75042780_75042780AC>A uc002ayr.1 + 1 765 c.701_701AC>A c.(700-702)aacfs p.N234fs NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 234 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) TCCTCCGGGAACCCCCTGGAC 0.567 KIAA1199 57214 broad.mit.edu 37 15 81234221 81234222 + Frame_Shift_Ins INS - - GA TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:81234220_81234221C>CGA uc002bfw.1 + 24 3698_3699 c.3438_3439C>CGA c.(3436-3441)aacgagfs p.N1146fs KIAA1199_uc010unn.1_Frame_Shift_Ins_p.N1146fs NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 1146 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AAGCTCAGAACGAGAGAGAGAA 0.510 SV2B 9899 broad.mit.edu 37 15 91832792 91832792 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:91832791_91832791GT>G uc002bqv.3 + 12 2640 c.1749_1749GT>G c.(1747-1749)ctgfs p.L583fs SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Frame_Shift_Del_p.L432fs NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA. 583 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GCTTCTTCCTGTTTTTTGGCA 0.522 CHD2 1106 broad.mit.edu 37 15 93528814 93528816 + In_Frame_Del DEL TGA TGA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:93528813_93528815CTGA>C uc002bsp.3 + 25 3898_3900 c.3323_3325CTGA>C c.(3322-3327)tctgat>tCat p.D1111del CHD2_uc002bso.1_In_Frame_Del_p.D1111del NM_001271 NP_001262 O14647 CHD2_HUMAN Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA. 1111 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) ACGGAAGACTCTGATGATGACAA 0.537 SYNM 23336 broad.mit.edu 37 15 99671083 99671083 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr15:99671082_99671082CG>C uc002bup.3 + 4 2634 c.2514_2514CG>C c.(2512-2514)cccfs p.P838fs SYNM_uc002buo.3_Frame_Shift_Del_p.P838fs|SYNM_uc002buq.3_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA. 839 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 ATGAACACCCCGGGGGGCACG 0.562 CIITA 4261 broad.mit.edu 37 16 11000726 11000726 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:11000725_11000725CG>C uc002daj.4 + 10 1512 c.1379_1379CG>C c.(1378-1380)ccgfs p.P460fs CIITA_uc002dai.4_Frame_Shift_Del_p.P459fs|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Frame_Shift_Del_p.P459fs|CIITA_uc002dah.2_Frame_Shift_Del_p.P411fs|CIITA_uc010bup.1_Intron NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 459 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TTGAACCGTCCGGGGGATGCC 0.612 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ LAT 27040 broad.mit.edu 37 16 28997465 28997465 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:28997464_28997464GC>G uc010vdj.2 + 4 316 c.280_280GC>G c.(280-282)gccfs p.A94fs NPIPL1_uc010vct.2_Intron|LAT_uc002dsb.3_Frame_Shift_Del_p.A58fs|LAT_uc002dsd.3_Frame_Shift_Del_p.A58fs|LAT_uc002dsc.3_Frame_Shift_Del_p.A58fs|LAT_uc010vdk.1_Frame_Shift_Del_p.A58fs|LAT_uc010vdl.1_Frame_Shift_Del_p.A58fs NM_001014989 NP_001014987 O43561 LAT_HUMAN Homo sapiens linker for activation of T cells (LAT), transcript variant 4, mRNA. 58 Ras protein signal transduction|T cell receptor signaling pathway|calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|regulation of T cell activation immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) AGACACGGTTGCCCCCTGGCC 0.612 PRSS36 146547 broad.mit.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:31151941_31151941AG>A uc002ebd.3 - 12 2098 c.2039_2039CT>T c.(2038-2040)ctgfs p.L680fs PRSS36_uc010vff.2_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.2_Intron NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN Homo sapiens protease, serine, 36 (PRSS36), mRNA. 680 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 CAGGAGGGCCAGGGGGGGCCT 0.731 NLRC5 84166 broad.mit.edu 37 16 57060239 57060240 + Frame_Shift_Del DEL GA GA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:57060238_57060239GGA>G uc021tiu.1 + 4 1510_1511 c.1383_1384GGA>G c.(1381-1386)ggggagfs p.G461fs NLRC5_uc021tit.1_Frame_Shift_Del_p.G461fs|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Frame_Shift_Del_p.G266fs|NLRC5_uc021tiw.1_Frame_Shift_Del_p.G266fs|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 461 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGGACCTGGGGGAGGTGGCCCT 0.594 TRADD 8717 broad.mit.edu 37 16 67190446 67190448 + In_Frame_Del DEL CCA CCA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:67190445_67190447GCCA>G uc002eri.1 - 1 197_199 c.117_119TGGC>C c.(115-120)gtggca>gtCa p.A40del TRADD_uc002erh.1_5'Flank|TRADD_uc010vjb.1_In_Frame_Del_p.A40del NM_003789 NP_003780 Q15628 TRADD_HUMAN Homo sapiens TNFRSF1A-associated via death domain (TRADD), mRNA. 40 activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) CCTGTACACTGCCACCTTCTGCT 0.635 OREG0023872 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC9A5 6553 broad.mit.edu 37 16 67304676 67304676 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:67304675_67304675TC>T uc002esm.3 + 15 2316 c.2253_2253TC>T c.(2251-2253)attfs p.I751fs SLC9A5_uc010cee.3_Frame_Shift_Del_p.I456fs|SLC9A5_uc010vji.2_Frame_Shift_Del_p.I255fs NM_004594 NP_004585 Q14940 SL9A5_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA. 751 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CACGAATCATTCCCCCCTCCC 0.537 PSMD7 5713 broad.mit.edu 37 16 74335456 74335457 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:74335455_74335456A>AG uc002fcq.3 + 3 402_403 c.262_263A>AG c.(262-264)aggfs p.R88fs PSMD7_uc010vmr.2_Frame_Shift_Ins_p.R11fs NM_002811 NP_002802 P51665 PSD7_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (PSMD7), mRNA. 88 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|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction proteasome regulatory particle protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 15 CTTCCTAGCCAGGGAAAGAATA 0.386 ADAD2 161931 broad.mit.edu 37 16 84227613 84227613 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr16:84227612_84227612GA>G uc002fhq.2 + 2 533 c.419_splice c.e2-1 p.G140_splice ADAD2_uc002fhr.2_Intron|AK123582_uc002fhs.1_3'UTR NM_139174 NP_631913 Q8NCV1 ADAD2_HUMAN Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA. 140 DRBM. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 TGTTTCATAGGAAAAGTGTTC 0.438 DPH1 1801 broad.mit.edu 37 17 1936833 1936834 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:1936832_1936833T>TC uc010vqs.2 + 0 146_147 c.140_141T>TC c.(139-141)atcfs p.I47fs DPH1_uc002fts.3_Frame_Shift_Ins_p.I37fs|DPH1_uc002ftt.3_Frame_Shift_Ins_p.I32fs|DPH1_uc010cjx.3_5'UTR NM_001383 NP_001374 Q9BZG8 DPH1_HUMAN Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA. 37 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus p.I37I(1) endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 GCCAATCAGATCCCCCCTGAGA 0.559 KIAA0664 23277 broad.mit.edu 37 17 2594065 2594066 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:2594064_2594065C>CT uc002fuy.1 - 25 3839_3840 c.3753_3754G>AG c.(3751-3756)aaagacfs p.K1251fs KIAA0664_uc002fux.1_Frame_Shift_Ins_p.K1184fs|KIAA0664_uc010ckc.1_3'UTR NM_015229 NP_056044 O75153 K0664_HUMAN Homo sapiens KIAA0664 (KIAA0664), mRNA. 1251 binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3) 23 TTCTCCAGGTCTTTTTGGCTGA 0.639 P2RX1 5023 broad.mit.edu 37 17 3819462 3819462 + Frame_Shift_Del DEL G G - rs35715771 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:3819461_3819461CG>C uc002fww.3 - 0 500 c.59_59CG>G c.(58-60)cgcfs p.R20fs P2RX1_uc010ckm.1_5'UTR NM_002558 NP_002549 P51575 P2RX1_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA. 20 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) CAGCACCATGCGGGGGGTGTC 0.652 GPS2 2874 broad.mit.edu 37 17 7216419 7216419 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:7216418_7216418TG>T uc002gfx.1 - 9 1222 c.830_830CA>A c.(829-831)cagfs p.Q277fs GPS2_uc002gfw.1_Frame_Shift_Del_p.Q239fs|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_Frame_Shift_Del_p.Q277fs NM_004489 NP_004480 Q13227 GPS2_HUMAN Homo sapiens G protein pathway suppressor 2 (GPS2), mRNA. 277 JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) ATGCAGAGCCTGGGGGTGCAT 0.567 CHD3 1107 broad.mit.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:7798764_7798764AC>A uc002gjd.2 + 9 1790 c.1788_1788AC>A c.(1786-1788)ccafs p.P596fs CHD3_uc002gje.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P365fs NM_001005271 NP_001005271 Q12873 CHD3_HUMAN Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA. 537 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CAGATGTCCCACCCCCCCGTC 0.577 MYH10 4628 broad.mit.edu 37 17 8396271 8396273 + In_Frame_Del DEL CTT CTT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:8396270_8396272GCTT>G uc002glm.3 - 32 4376_4378 c.4280_4282AAGC>C c.(4279-4284)aagctt>aCtt p.1427_1428KL>T MYH10_uc002gll.3_In_Frame_Del_p.1396_1397KL>T|MYH10_uc010cnx.3_In_Frame_Del_p.1405_1406KL>T NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 1396 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCCTTCAGAAGCTTCTTCTTGGC 0.522 EPN2 22905 broad.mit.edu 37 17 19232950 19232951 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:19232949_19232950C>CA uc002gvd.4 + 8 1848_1849 c.1400_1401C>CA c.(1399-1401)tcafs p.S467fs EPN2_uc010cql.1_Frame_Shift_Ins_p.S176fs|EPN2_uc002gve.4_Frame_Shift_Ins_p.S410fs|EPN2_uc002gvf.4_Frame_Shift_Ins_p.S182fs|EPN2_uc010vyo.2_Frame_Shift_Ins_p.S175fs|EPN2_uc002gvh.1_Frame_Shift_Ins_p.S467fs|EPN2_uc010vyp.2_Frame_Shift_Ins_p.S403fs|EPN2_uc010vyq.2_Frame_Shift_Ins_p.S404fs|EPN2_uc002gvj.3_Frame_Shift_Ins_p.S130fs NM_014964 NP_001096134 O95208 EPN2_HUMAN Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA. 467 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.T470fs*19(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CTTCGGACTTCAAAAAAAACAG 0.396 NF1 4763 broad.mit.edu 37 17 29654775 29654780 + In_Frame_Del DEL ACCAAG ACCAAG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:29654774_29654779CACCAAG>C uc002hgg.3 + 37 5909_5914 c.5526_5531CACCAAG>C c.(5524-5532)cacaccaag>caCg p.TK1843del NF1_uc002hgh.3_In_Frame_Del_p.TK1822del|NF1_uc002hgi.1_In_Frame_Del_p.TK855del|NF1_uc010cso.3_In_Frame_Del_p.TK31del NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1843 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCCCCCAACACACCAAGATTCGGCCA 0.481 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) DDX52 11056 broad.mit.edu 37 17 36002157 36002157 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:36002156_36002156CT>C uc002hoi.2 - 1 313 c.269_269AG>G c.(268-270)aggfs p.R90fs DDX52_uc002hoh.2_5'UTR|DDX52_uc002hoj.1_5'UTR NM_007010 NP_008941 Q9Y2R4 DDX52_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA. 90 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) CATCGTCTTCCTTTTTTTCTT 0.378 CDK12 51755 broad.mit.edu 37 17 37687472 37687473 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:37687471_37687472T>TG uc010cvv.3 + 13 4961_4962 c.4375_4376T>TG c.(4375-4377)tggfs p.W1459fs CDK12_uc002hrw.4_Frame_Shift_Ins_p.W1450fs NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA. 1459 RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AGGCCTTCACTGGGGGGGCCCA 0.559 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) KRT32 3882 broad.mit.edu 37 17 39623520 39623520 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:39623519_39623519CG>C uc002hwr.3 - 0 120 c.59_59CG>G c.(58-60)cggfs p.R20fs NM_002278 NP_002269 Q14532 K1H2_HUMAN Homo sapiens keratin 32 (KRT32), mRNA. 20 Head. epidermis development intermediate filament protein binding|structural molecule activity p.P19H(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CGAGGCAGGCCGGGGGCAGCT 0.622 STAT5B 6777 broad.mit.edu 37 17 40375459 40375459 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:40375458_40375458CT>C uc002hzh.3 - 4 661 c.492_492AG>G c.(490-492)aagfs p.K164fs STAT5B_uc002hzi.3_Frame_Shift_Del_p.K164fs NM_012448 NP_036580 P51692 STA5B_HUMAN Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA. 164 2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TCTGCTGCAGCTTTTTTAACT 0.532 UBTF 7343 broad.mit.edu 37 17 42290653 42290653 + Splice_Site DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:42290652_42290652TG>T uc010czs.3 - 6 771 c.475_splice c.e6-1 p.M159_splice UBTF_uc002igc.3_Splice_Site_p.M159_splice|UBTF_uc002igd.3_Splice_Site_p.M159_splice|UBTF_uc010czt.3_Splice_Site_p.M159_splice|UBTF_uc002ige.2_Splice_Site_p.M159_splice NM_014233 NP_055048 P17480 UBF1_HUMAN Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA. 159 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) ATATTTCATCTGGGGGGAGGA 0.597 XYLT2 64132 broad.mit.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:48433966_48433966AC>A uc002iqo.3 + 7 1686 c.1577_1577AC>A c.(1576-1578)tacfs p.Y526fs XYLT2_uc010dbo.3_Non-coding_Transcript NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN Homo sapiens xylosyltransferase II (XYLT2), mRNA. 526 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.G529fs*17(1) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) TATGGCAGCTACCCCCCCGGC 0.602 RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 THOC1 9984 broad.mit.edu 37 18 224097 224097 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:224096_224096AT>A uc002kkj.4 - 15 1332 c.1292_1292AT>T c.(1291-1293)attfs p.I431fs THOC1_uc002kkh.4_Frame_Shift_Del_p.I55fs NM_005131 NP_005122 Q96FV9 THOC1_HUMAN Homo sapiens THO complex 1 (THOC1), mRNA. 431 RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck DNA binding|RNA binding|protein binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TCCCATCAGAATTTTTTTGGT 0.373 ASXL3 80816 broad.mit.edu 37 18 31323658 31323658 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:31323657_31323657TA>T uc010dmg.1 + 11 3900 c.3845_3845TA>T c.(3844-3846)ttafs p.L1282fs ASXL3_uc002kxq.2_Frame_Shift_Del_p.L989fs NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1282 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATAAGCATGTTAAAAACCATC 0.393 ZBTB7C 201501 broad.mit.edu 37 18 45567076 45567076 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:45567075_45567075TC>T uc010dnv.3 - 2 906 c.470_470GA>A c.(469-471)gagfs p.E157fs ZBTB7C_uc002ldb.3_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnu.3_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dnw.3_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.E143fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.E144fs NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 135 Asp-rich.|Glu-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 gtcatcctcctcccccccgtc 0.577 TCF4 6925 broad.mit.edu 37 18 53252552 53252552 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:53252551_53252551AT>A uc002lga.3 - 3 471 c.411_411AT>T c.(409-411)aatfs p.N137fs TCF4_uc010xdx.1_Frame_Shift_Del_p.N11fs|TCF4_uc021ukj.1_Frame_Shift_Del_p.N35fs|TCF4_uc021ukk.1_Frame_Shift_Del_p.N35fs|TCF4_uc021ukl.1_Frame_Shift_Del_p.N33fs|TCF4_uc002lfz.2_Frame_Shift_Del_p.N35fs|TCF4_uc010dph.1_Frame_Shift_Del_p.N35fs|TCF4_uc010dpi.3_Frame_Shift_Del_p.N35fs|TCF4_uc010xdy.1_Frame_Shift_Del_p.N11fs|TCF4_uc021uko.1_Non-coding_Transcript|TCF4_uc021ukp.1_Frame_Shift_Del_p.W117fs NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 35 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AAGTTGGTCCATTTTTCCCAC 0.358 WDR7 23335 broad.mit.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:54358512_54358512CG>C uc002lgk.1 + 7 994 c.783_783CG>C c.(781-783)accfs p.T261fs WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA. 261 p.T261P(1) NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) AGACATGGACCGGGGGGGACT 0.418 ATP8B1 5205 broad.mit.edu 37 18 55365040 55365041 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr18:55365039_55365040A>AT uc002lgw.3 - 6 734_735 c.614_615T>AT c.(613-615)aatfs p.N205fs LOC100505549_uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA. 205 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GAACAAAATCATTTTTTTTCAG 0.386 SAFB2 9667 broad.mit.edu 37 19 5621342 5621344 + In_Frame_Del DEL CTT CTT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:5621341_5621343ACTT>A uc002mcd.3 - 1 463_465 c.251_253AAGT>T c.(250-255)aagtca>aTca p.84_85KS>I SAFB_uc010xiq.2_5'Flank|SAFB_uc002mcf.3_5'Flank|SAFB_uc002mcg.3_5'Flank|SAFB_uc002mce.4_5'Flank|SAFB_uc010xis.2_5'Flank|SAFB_uc010xit.2_5'Flank|SAFB_uc010xir.2_5'Flank|SAFB_uc010xiu.2_5'Flank|SAFB2_uc010xio.1_In_Frame_Del_p.84_85KS>I|SAFB2_uc010xip.1_Non-coding_Transcript NM_014649 NP_055464 Q14151 SAFB2_HUMAN Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA. 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|nucleotide binding|protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CTCTTGGCTGACTTCTTGCTGGT 0.438 GPR108 56927 broad.mit.edu 37 19 6736719 6736719 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:6736718_6736718TC>T uc002mfp.3 - 1 171 c.125_125GA>A c.(124-126)gagfs p.E42fs TRIP10_uc010dux.2_5'Flank|TRIP10_uc002mfr.3_5'Flank|TRIP10_uc002mfs.3_5'Flank|TRIP10_uc010duy.3_5'Flank NM_001080452 NP_001073921 Q9NPR9 GP108_HUMAN Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA. 42 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 CGCTCGCTTCTCCCCCTGCCG 0.642 OREG0025202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HNRNPM 4670 broad.mit.edu 37 19 8520329 8520329 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:8520328_8520328GA>G uc010dwe.3 + 1 233 c.153_153GA>G c.(151-153)gagfs p.E51fs HNRNPM_uc010dwc.1_Frame_Shift_Del_p.E51fs|HNRNPM_uc010xke.1_Frame_Shift_Del_p.E51fs|HNRNPM_uc010dwd.3_Frame_Shift_Del_p.E51fs NM_005968 NP_005959 P52272 HNRPM_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA. 51 E -> V (in Ref. 1; AAA36192). alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles RNA binding|nucleotide binding|protein domain specific binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 AGAGGAAGGAGAAAAACATAA 0.393 ZNF878 729747 broad.mit.edu 37 19 12155486 12155486 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:12155485_12155485CT>C uc021upl.1 - 3 897 c.731_731AG>G c.(730-732)agafs p.R244fs ZNF878_uc002mta.1_Frame_Shift_Del_p.R291fs NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN Homo sapiens zinc finger protein 878 (ZNF878), mRNA. 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TTTCTCGTGTCTTTTTAACGA 0.398 OR10H2 26538 broad.mit.edu 37 19 15839381 15839381 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:15839380_15839380AT>A uc002nbm.2 + 0 547 c.527_527AT>A c.(526-528)catfs p.H176fs NM_013939 NP_039227 O60403 O10H2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GAGATCCAGCATTTTTTATGT 0.547 SIN3B 23309 broad.mit.edu 37 19 16962291 16962291 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:16962290_16962290AC>A uc002ney.2 + 5 817 c.794_794AC>A c.(793-795)cacfs p.H265fs SIN3B_uc002new.3_Frame_Shift_Del_p.H265fs|SIN3B_uc002nez.2_Frame_Shift_Del_p.H265fs NM_015260 NP_056075 O75182 SIN3B_HUMAN Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA. 265 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 ACCCCGGAGCACAGCAGGAAG 0.662 ZNF506 440515 broad.mit.edu 37 19 19905597 19905598 + Frame_Shift_Del DEL TC TC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:19905596_19905597TTC>T uc010eci.2 - 3 1247_1248 c.1099_1100GAA>A c.(1099-1101)aaafs p.K367fs ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Frame_Shift_Del_p.K335fs NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA. 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 CTTGTAGGGTTTCTCTCCAGTA 0.396 ZNF486 90649 broad.mit.edu 37 19 20308052 20308052 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:20308051_20308051GA>G uc002nou.2 + 3 589 c.532_532GA>G c.(532-534)gaafs p.E178fs NM_052852 NP_443084 Q96H40 ZN486_HUMAN Homo sapiens zinc finger protein 486 (ZNF486), mRNA. 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 AAGACATACTGAAAAAAAACC 0.303 ZNF43 7594 broad.mit.edu 37 19 21992087 21992087 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:21992086_21992086AT>A uc002nqj.3 - 3 883 c.753_753AT>T c.(751-753)aatfs p.N251fs ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ATCTAGTATAATTTTTTTTAT 0.348 ZNF507 22847 broad.mit.edu 37 19 32845518 32845521 + Frame_Shift_Del DEL GAGA GAGA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:32845517_32845520TGAGA>T uc002nte.3 + 2 2053_2056 c.1781_1784TGAGA>T c.(1780-1785)ttgagafs p.L594fs ZNF507_uc002ntc.2_Frame_Shift_Del_p.L594fs|ZNF507_uc010xrn.1_Frame_Shift_Del_p.L594fs|ZNF507_uc002ntd.3_Frame_Shift_Del_p.L594fs NM_001136156 NP_055725 Q8TCN5 ZN507_HUMAN Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA. 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) ATTGAAAAATTGAGAGAAAGGACA 0.485 PDCD2L 84306 broad.mit.edu 37 19 34904755 34904755 + Splice_Site DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:34904754_34904754TA>T uc002nvj.3 + 5 830 c.797_splice c.e5+2 p.R266_splice NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN Homo sapiens programmed cell death 2-like (PDCD2L), mRNA. 266 cytoplasm breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GATTTTGAGGTAAAAAAAGGC 0.328 SAMD4B 55095 broad.mit.edu 37 19 39868176 39868178 + In_Frame_Del DEL ATC ATC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:39868175_39868177GATC>G uc002olb.3 + 9 2190_2192 c.1155_1157GATC>G c.(1153-1158)cagatc>caGc p.I388del SAMD4B_uc002ola.3_In_Frame_Del_p.I388del NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA. 388 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) AGCTGCAGCAGATCATCATCACT 0.631 CIC 23152 broad.mit.edu 37 19 42795609 42795609 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:42795608_42795608AC>A uc002otf.1 + 9 2728 c.2688_2688AC>A c.(2686-2688)ccafs p.P896fs NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 896 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCTCCGCCCCACCCCCCAAAG 0.607 """Mis, F, S""" oligodendroglioma PNMAL2 57469 broad.mit.edu 37 19 46997818 46997818 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:46997817_46997817CG>C uc002pes.2 - 0 1353 c.906_906CG>G c.(904-906)ccgfs p.P302fs LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'UTR NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN Homo sapiens PNMA-like 2 (PNMAL2), mRNA. 302 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GCTCCTCGTCCGGGGTGTCTC 0.572 DHX34 9704 broad.mit.edu 37 19 47884149 47884150 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:47884148_47884149A>AC uc010xyn.2 + 14 3407_3408 c.3058_3059A>AC c.(3058-3060)accfs p.T1020fs DHX34_uc010xyo.1_Frame_Shift_Ins_p.T149fs NM_014681 NP_055496 Q14147 DHX34_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA. 1020 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CATCCCAGCCACCCCCCATCTT 0.594 IL4I1 259307 broad.mit.edu 37 19 50392998 50393001 + Frame_Shift_Del DEL CTTC CTTC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:50392997_50393000TCTTC>T uc002pqv.2 - 10 2487_2490 c.1658_1661GAAGA>A c.(1657-1662)gaagaafs p.E553fs IL4I1_uc002pqt.1_Frame_Shift_Del_p.E544fs|IL4I1_uc021uxy.1_Frame_Shift_Del_p.E566fs|IL4I1_uc002pqu.2_Frame_Shift_Del_p.E566fs|IL4I1_uc010eno.2_Frame_Shift_Del_p.E552fs NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA. 544 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) GTGGCTGCCTTCTTCCTTTGCCAG 0.603 NLRP9 338321 broad.mit.edu 37 19 56249722 56249723 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:56249721_56249722G>GA uc002qly.3 - 0 47_48 c.19_20C>TC c.(19-21)tcgfs p.S7fs NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 7 DAPIN. cytoplasm ATP binding p.S7S(1) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GCCAAAATCCGAAAAAAAAGAT 0.396 ZNF551 90233 broad.mit.edu 37 19 58264857 58264858 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr19:58264856_58264857G>GA uc002qpx.3 + 2 581_582 c.358_359G>GA c.(358-360)gaafs p.E120fs ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Frame_Shift_Ins_p.E120fs NM_173632 NP_775903 Q7Z340 ZN551_HUMAN Homo sapiens zinc finger protein 776 (ZNF776), mRNA. 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGGGGCATATGAAAAAAAATTG 0.446 PLCB4 5332 broad.mit.edu 37 20 9353043 9353043 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:9353042_9353042CA>C uc021wam.1 + 7 693 c.678_678CA>C c.(676-678)ttcfs p.F226fs PLCB4_uc010gbw.1_Frame_Shift_Del_p.F226fs|PLCB4_uc010gbx.3_Frame_Shift_Del_p.F226fs|PLCB4_uc021wal.1_Frame_Shift_Del_p.F226fs|PLCB4_uc002wnh.3_Frame_Shift_Del_p.F73fs NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 226 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AAGATCTTTTCAAAAAAATGT 0.313 CST4 1472 broad.mit.edu 37 20 23667826 23667827 + Frame_Shift_Ins INS - - C rs140501583 TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:23667825_23667826A>AC uc002wto.1 - 1 297_298 c.241_242T>GT c.(241-243)gtgfs p.V81fs NM_001899 NP_001890 P01036 CYTS_HUMAN Homo sapiens cystatin S (CST4), mRNA. 81 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GAAGTAATTCACCCCCCCAAAG 0.554 GDF5 8200 broad.mit.edu 37 20 34025412 34025412 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:34025411_34025411TG>T uc010gfc.1 - 0 539 c.298_298CA>A c.(298-300)agafs p.R100fs GDF5_uc002xck.1_Frame_Shift_Del_p.R100fs NM_000557 NP_000548 P43026 GDF5_HUMAN Homo sapiens growth differentiation factor 5 (GDF5), mRNA. 100 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CCGCCCGGTCTGGGGGGCAGC 0.647 IFT52 51098 broad.mit.edu 37 20 42232493 42232493 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:42232492_42232492CT>C uc002xkw.3 + 3 422 c.300_300CT>C c.(298-300)aacfs p.N100fs IFT52_uc010zwi.1_Intron|IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Frame_Shift_Del_p.N100fs NM_016004 NP_057088 Q9Y366 IFT52_HUMAN Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA. 100 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCAATATTAACTTTTTACTAG 0.318 SLPI 6590 broad.mit.edu 37 20 43881731 43881732 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:43881730_43881731T>TG uc002xnm.1 - 2 328_329 c.306_307A>CA c.(304-309)cccaatfs p.P102fs NM_003064 NP_003055 P03973 SLPI_HUMAN Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA. 102 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 CSE1L 1434 broad.mit.edu 37 20 47691908 47691909 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:47691907_47691908G>GT uc002xty.3 + 11 1319_1320 c.1185_1186G>GT c.(1183-1188)aagtttfs p.K395fs CSE1L_uc010zyg.2_Frame_Shift_Ins_p.K178fs|CSE1L_uc010ghx.3_Frame_Shift_Ins_p.K339fs|CSE1L_uc010ghy.3_Frame_Shift_Ins_p.K44fs|CSE1L_uc010zyh.2_Frame_Shift_Ins_p.K44fs NM_001316 NP_001307 P55060 XPO2_HUMAN Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA. 395 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) GATTATGCAAGTTTTTTGAGGG 0.386 LAMA5 3911 broad.mit.edu 37 20 60885264 60885264 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr20:60885263_60885263AG>A uc002ycq.3 - 76 10772 c.10705_10705CT>T c.(10705-10707)tacfs p.Y3569fs LAMA5_uc021wfw.1_Frame_Shift_Del_p.Y3569fs NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 3569 Laminin G-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACTGCAAGTAGGGGGGCGTC 0.652 ADAMTS1 9510 broad.mit.edu 37 21 28210011 28210011 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:28210010_28210010CT>C uc002ymf.3 - 8 3247 c.2792_2792AG>G c.(2791-2793)agafs p.R931fs NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA. 931 TSP type-1 3. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) CTTCAAGCTTCTTTTTTTGTA 0.488 IFNGR2 3460 broad.mit.edu 37 21 34799320 34799320 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:34799319_34799319GA>G uc002yrp.4 + 3 1189 c.541_541GA>G c.(541-543)gaafs p.E181fs NM_005534 NP_005525 P38484 INGR2_HUMAN Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA. 181 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CCATTACTGGGAAAAAGGAGG 0.423 ZNF295 49854 broad.mit.edu 37 21 43413803 43413803 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:43413802_43413802CT>C uc021wjo.1 - 0 403 c.403_403AG>G c.(403-405)gtgfs p.V135fs ZNF295_uc002yzz.4_Frame_Shift_Del_p.V135fs|ZNF295_uc002zab.4_Frame_Shift_Del_p.V135fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.V135fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.V135fs|ZNF295_uc010gov.1_Frame_Shift_Del_p.V135fs|ZNF295_uc002zac.2_Frame_Shift_Del_p.V135fs NM_020727 NP_065778 Q9ULJ3 ZN295_HUMAN Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA. 135 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methyl-CpG binding|protein binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 TCTACAAACACTTTTTTTCTA 0.378 AGPAT3 56894 broad.mit.edu 37 21 45387993 45387993 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:45387992_45387992TG>T uc002zdx.3 + 4 1270 c.605_605TG>T c.(604-606)ctgfs p.L202fs AGPAT3_uc002zdv.3_Frame_Shift_Del_p.L115fs|AGPAT3_uc002zdw.3_Frame_Shift_Del_p.L115fs|AGPAT3_uc002zdy.3_Frame_Shift_Del_p.L53fs NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA. 115 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TTCGGAGTGCTGGGGGTGAGC 0.677 PCNT 5116 broad.mit.edu 37 21 47862416 47862417 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr21:47862415_47862416G>GT uc002zji.4 + 43 9736_9737 c.9629_9630G>GT c.(9628-9630)cgtfs p.R3210fs PCNT_uc002zjj.3_Frame_Shift_Ins_p.R3013fs NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 3210 Interaction with NEK2. G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGTAGATTACGTTTTTTGGTTA 0.475 TUBA8 51807 broad.mit.edu 37 22 18609266 18609266 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:18609265_18609265GC>G uc002znw.1 + 2 889 c.592_592GC>G c.(592-594)gccfs p.A198fs TUBA8_uc002znv.2_Frame_Shift_Del_p.A174fs|TUBA8_uc021wkt.1_Frame_Shift_Del_p.A108fs NM_001193414 NP_001180343 Q9NY65 TBA8_HUMAN Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA. 174 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.S198*(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 CATCTACCCAGCCCCCCAGGT 0.547 DGCR8 54487 broad.mit.edu 37 22 20094869 20094870 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:20094868_20094869T>TG uc002zri.3 + 11 2500_2501 c.2071_2072T>TG c.(2071-2073)tggfs p.W691fs DGCR8_uc010grz.3_Frame_Shift_Ins_p.W658fs|DGCR8_uc002zrj.3_Frame_Shift_Ins_p.W334fs NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA. 691 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) TGTCAAGAACTGGGGGTCTTTA 0.540 JOSD1 9929 broad.mit.edu 37 22 39095946 39095947 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:39095945_39095946C>CA uc003awf.3 - 0 514_515 c.47_48G>TG c.(46-48)ttgfs p.L16fs NM_014876 NP_055691 Q15040 JOS1_HUMAN Homo sapiens Josephin domain containing 1 (JOSD1), mRNA. 16 peptidase activity large_intestine(1)|lung(1)|ovary(2)|pancreas(1) 5 Melanoma(58;0.04) GGGGCAGCTCCAATGATTCAGA 0.505 SBF1 6305 broad.mit.edu 37 22 50898727 50898728 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chr22:50898726_50898727A>AG uc003blh.3 - 24 3452_3453 c.3257_3258T>CT c.(3256-3258)cctfs p.P1086fs SBF1_uc011arx.2_Frame_Shift_Ins_p.P750fs NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 1086 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CCTGGTCCTCAGGGGGCGGCTG 0.653 ZFX 7543 broad.mit.edu 37 X 24225595 24225597 + Splice_Site DEL AAG AAG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:24225594_24225596TAAG>T uc011mjv.2 + 6 1162 c.913_splice c.e6+2 p.G305_splice ZFX_uc004dbd.2_Splice_Site_p.G266_splice|ZFX_uc004dbf.3_Splice_Site_p.G266_splice|ZFX_uc004dbe.3_Splice_Site_p.G266_splice|ZFX_uc022bua.1_Splice_Site_p.G266_splice|ZFX_uc010nfx.2_Splice_Site_p.G37_splice|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_5'Flank NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 ATGACTTAGGTAAGAAGAAGTGT 0.389 DMD 1756 broad.mit.edu 37 X 32591746 32591746 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:32591745_32591745TA>T uc004dda.1 - 14 1958 c.1714_1714TA>A c.(1714-1716)agtfs p.S572fs DMD_uc004dcz.2_Frame_Shift_Del_p.S449fs|DMD_uc004dcy.1_Frame_Shift_Del_p.S568fs|DMD_uc004ddb.1_Frame_Shift_Del_p.S564fs|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Frame_Shift_Del_p.S564fs|DMD_uc010ngp.1_Frame_Shift_Del_p.L91fs|DMD_uc010ngq.1_Non-coding_Transcript NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 572 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGCCATGCACTAAAAAGGCAC 0.338 RPGR 6103 broad.mit.edu 37 X 38144857 38144857 + Frame_Shift_Del DEL T T - rs12687163 byFrequency TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:38144856_38144856GT>G uc004ded.1 - 14 3564 c.3396_3396AC>C c.(3394-3396)aacfs p.N1132fs RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA. 0 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 CTGATGGCCCGTTTTTTAAAA 0.378 GPR82 27197 broad.mit.edu 37 X 41587149 41587149 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:41587148_41587148CA>C uc022bvd.1 + 0 869 c.869_869CA>C c.(868-870)acafs p.T290fs CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Frame_Shift_Del_p.T290fs NM_080817 NP_543007 Q96P67 GPR82_HUMAN Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA. 290 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 10 TTAATAGAAACAAAAAACATT 0.308 GSPT2 23708 broad.mit.edu 37 X 51487865 51487866 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:51487864_51487865C>CA uc004dpl.3 + 0 1384_1385 c.1142_1143C>CA c.(1141-1143)ccafs p.P381fs NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA. 381 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) GGCTTCAGTCCAAAAAAGGACA 0.391 HDX 139324 broad.mit.edu 37 X 83724297 83724297 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:83724296_83724296AT>A uc011mqv.2 - 3 682 c.435_435AT>T c.(433-435)aatfs p.N145fs HDX_uc004eel.2_Frame_Shift_Del_p.N87fs|HDX_uc004eek.2_Frame_Shift_Del_p.N145fs NM_001177479 NP_001170949 Q7Z353 HDX_HUMAN Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA. 145 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 ACTCAGTATCATTTTTAGTGG 0.373 ZNF711 7552 broad.mit.edu 37 X 84526621 84526621 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:84526620_84526620TA>T uc004eeq.3 + 9 3096 c.2210_2210TA>T c.(2209-2211)ctafs p.L737fs ZNF711_uc004eep.3_Frame_Shift_Del_p.L691fs|ZNF711_uc004eeo.3_Frame_Shift_Del_p.L691fs|ZNF711_uc011mqy.1_Frame_Shift_Del_p.L290fs NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 691 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 CAAAATGAGCTAAAAAAACAT 0.363 ZBTB33 10009 broad.mit.edu 37 X 119389225 119389226 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:119389224_119389225A>AT uc022cdm.1 + 0 1954_1955 c.1954_1955A>AT c.(1954-1956)attfs p.I652fs ZBTB33_uc010nqm.1_Frame_Shift_Ins_p.I652fs|ZBTB33_uc004esn.1_Frame_Shift_Ins_p.I652fs NM_006777 NP_006768 Q86T24 KAISO_HUMAN Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA. 652 Interaction with CTNND1 (By similarity). Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 AAATGATTCAATTTTTAAACAA 0.351 AFF2 2334 broad.mit.edu 37 X 148037970 148037970 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 g.chrX:148037969_148037969GA>G uc004fcp.3 + 10 2873 c.2394_2394GA>G c.(2392-2394)ctgfs p.L798fs AFF2_uc004fcq.3_Frame_Shift_Del_p.L788fs|AFF2_uc004fcr.3_Frame_Shift_Del_p.L759fs|AFF2_uc011mxb.2_Frame_Shift_Del_p.L763fs|AFF2_uc004fcs.3_Frame_Shift_Del_p.L765fs|AFF2_uc011mxc.2_Frame_Shift_Del_p.L439fs NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 798 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ATGAGAACCTGAAAAACCTCT 0.478