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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PIK3CD 5293 broad.mit.edu 37 1 9775949 9775949 + Missense_Mutation SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:9775949A>G uc001aqb.3 + 5 621 c.413A>G c.(412-414)GAC>GGC p.D138G PIK3CD_uc010oaf.1_Missense_Mutation_p.D138G|PIK3CD_uc001aqe.3_Missense_Mutation_p.D138G NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 138 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GAAGTGAACGACTTTCGCGCC 0.687 NaN 0 0 0 0.047766 0 9 38 FBXO42 54455 broad.mit.edu 37 1 16579618 16579618 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:16579618G>A uc001ayg.2 - 8 1110 c.894C>T c.(892-894)ATC>ATT p.I298I FBXO42_uc001aye.3_Silent_p.I16I|FBXO42_uc001ayf.2_Silent_p.I205I NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 298 Kelch 4. upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) ACCCTCCGAGGATTAAGATAG 0.438 NaN 0 0 0 0.124865 0 41 16 HSPG2 3339 broad.mit.edu 37 1 22202880 22202880 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:22202880C>T uc001bfj.2 - 23 2885 c.2845G>A c.(2845-2847)GAG>AAG p.E949K HSPG2_uc009vqd.2_Missense_Mutation_p.E950K NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 949 Laminin IV type A 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) TGACCAGGCTCCTCAGAGGCC 0.667 NaN 0 0 0 0.009096 0 4 16 MACF1 23499 broad.mit.edu 37 1 39799983 39799983 + Nonsense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:39799983C>T uc010oiu.1 + 1 3174 c.3043C>T c.(3043-3045)CAG>TAG p.Q1015* MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2580 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAGAGAAATCCAGGAGGTTCA 0.378 NaN 0 0 0 0.139131 0 92 39 MACF1 23499 broad.mit.edu 37 1 39838193 39838193 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:39838193G>A uc010oiu.1 + 16 8589 c.8458G>A c.(8458-8460)GAA>AAA p.E2820K MACF1_uc010ois.1_Missense_Mutation_p.E2318K|MACF1_uc001cda.1_Missense_Mutation_p.E2226K|MACF1_uc001cdc.1_Missense_Mutation_p.E1405K|MACF1_uc001cdb.1_Missense_Mutation_p.E1405K NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4385 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCTGGTGGAAGAAATCAATTG 0.403 NaN 0 0 0 0.055883 0 22 59 STIL 6491 broad.mit.edu 37 1 47767248 47767248 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:47767248G>A uc001crc.1 - 5 593 c.438C>T c.(436-438)TTC>TTT p.F146F TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.F146F|STIL_uc010omo.1_Silent_p.F146F|STIL_uc001crd.1_Silent_p.F146F|STIL_uc001cre.1_Silent_p.F146F|STIL_uc001crg.1_Silent_p.F146F NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 146 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) AAGCTGAACTGAAGTCATCTA 0.348 NaN 0 0 0 0.139131 0 46 29 FOXE3 2301 broad.mit.edu 37 1 47882467 47882467 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:47882467C>T uc001crk.2 + 1 724 c.480C>T c.(478-480)TTC>TTT p.F160F NM_012186 NP_036318 Q13461 FOXE3_HUMAN forkhead box E3 160 Fork-head. cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 READ - Rectum adenocarcinoma(2;0.0908) ACGGCAGCTTCCTGCGGCGCC 0.542 NaN 0 0 0 0.064281 0 35 21 INADL 10207 broad.mit.edu 37 1 62263087 62263087 + Silent SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:62263087A>G uc001dab.2 + 11 1503 c.1389A>G c.(1387-1389)CCA>CCG p.P463P INADL_uc009waf.1_Silent_p.P463P|INADL_uc001daa.2_Silent_p.P463P|INADL_uc001dad.3_Silent_p.P160P NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 463 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 CACTTGAACCACCTTCAGACA 0.448 NaN 0 0 0 0.139131 0 122 58 IL23R 149233 broad.mit.edu 37 1 67666436 67666436 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:67666436G>A uc001ddo.2 + 5 593 c.508G>A c.(508-510)GAG>AAG p.E170K IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Missense_Mutation_p.E127K|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Missense_Mutation_p.E15K|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.E29K|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Missense_Mutation_p.E29K|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Intron|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_Missense_Mutation_p.E29K|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Missense_Mutation_p.E29K|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_Intron|IL23R_uc010oqf.1_Intron|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 170 Extracellular (Potential).|Fibronectin type-III 1. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 GACAGAAGAAGAGCAACAGTA 0.289 NaN 0 0 0 0.139131 0 54 29 IL23R 149233 broad.mit.edu 37 1 67666498 67666498 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:67666498G>A uc001ddo.2 + 5 655 c.570G>A c.(568-570)AAG>AAA p.K190K IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Silent_p.K147K|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Silent_p.K35K|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Silent_p.K49K|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Silent_p.K49K|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_5'UTR|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_Silent_p.K49K|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Silent_p.K49K|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 190 Extracellular (Potential).|Fibronectin type-III 1. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 AAGGTGGCAAGAAGTACTTGG 0.373 NaN 0 0 0 0.139131 0 80 44 FUBP1 8880 broad.mit.edu 37 1 78429366 78429366 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:78429366C>T uc001dii.2 - 13 1165 c.1076G>A c.(1075-1077)CGA>CAA p.R359Q FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.R380Q NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 359 Gly-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 ACCTCTTCCTCGACCACCAGG 0.428 NaN 0 0 0 0.0918 0 26 41 COL11A1 1301 broad.mit.edu 37 1 103461433 103461433 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:103461433G>C uc001dul.2 - 28 2645 c.2327C>G c.(2326-2328)TCT>TGT p.S776C COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.S788C|COL11A1_uc001dun.2_Missense_Mutation_p.S737C|COL11A1_uc009weh.2_Missense_Mutation_p.S660C NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 776 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTCACCTTTAGATCCCTTGAG 0.269 NaN 0 0 0 0.055883 0 18 119 COL11A1 1301 broad.mit.edu 37 1 103468019 103468019 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:103468019C>G uc001dul.2 - 23 2380 c.2062G>C c.(2062-2064)GGG>CGG p.G688R COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G700R|COL11A1_uc001dun.2_Missense_Mutation_p.G649R|COL11A1_uc009weh.2_Missense_Mutation_p.G572R NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 688 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTGGAGGCCCAGGCTCCCCT 0.423 NaN 0 0 0 0.047766 0 7 7 ATXN7L2 127002 broad.mit.edu 37 1 110031674 110031674 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:110031674C>T uc001dxr.2 + 7 1004 c.989C>T c.(988-990)ACC>ATC p.T330I ATXN7L2_uc001dxs.2_5'UTR|ATXN7L2_uc001dxt.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 330 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CCCAGCAGCACCTTCTCTGTT 0.617 NaN 0 0 0 0.139131 0 87 26 KCNC4 3749 broad.mit.edu 37 1 110766110 110766110 + Silent SNP C C T rs139324520 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:110766110C>T uc001dzh.2 + 2 1260 c.1203C>T c.(1201-1203)TAC>TAT p.Y401Y KCNC4_uc001dzf.2_Silent_p.Y401Y|KCNC4_uc009wfr.2_Silent_p.Y401Y|KCNC4_uc001dzg.2_Silent_p.Y401Y|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 401 Helical; Name=Segment S5; (Potential). synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) TGATCTACTACGCTGAGCGCA 0.592 NaN 0 0 0 0.064281 0 35 120 PDZK1 5174 broad.mit.edu 37 1 145747150 145747150 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:145747150G>T uc001eon.1 + 3 204 c.107G>T c.(106-108)CGG>CTG p.R36L NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Missense_Mutation_p.R36L|PDZK1_uc010oza.1_Missense_Mutation_p.R36L NM_002614 NP_002605 Q5T2W1 NHRF3_HUMAN PDZ domain containing 1 36 PDZ 1. carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport brush border membrane|cytoplasm PDZ domain binding|transporter activity 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) CACCTGGTCCGGGTGGTTGAG 0.502 NaN 1 0 1.10923e-09 0.076483 1.16626e-09 22 491 BCL9 607 broad.mit.edu 37 1 147095710 147095710 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:147095710C>T uc001epq.2 + 10 3971 c.3231C>T c.(3229-3231)CTC>CTT p.L1077L BCL9_uc010ozr.1_Silent_p.L991L NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1077 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) TGCCAACCCTCAGCCCAATGG 0.493 NaN T IGH@|IGL@ B-ALL 0 0 0 0.139131 0 104 219 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:155887393T>G uc001fmi.1 - 11 1361 c.1337A>C c.(1336-1338)CAG>CCG p.Q446P KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q303P|KIAA0907_uc009wrl.1_RNA NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 446 Pro-rich. 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.448 NaN 0 0 0 0.105934 0 7 39 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:156777073T>G uc001fqd.2 - 8 1207 c.1067A>C c.(1066-1068)CAC>CCC p.H356P SH2D2A_uc001fqc.1_Missense_Mutation_p.H328P|SH2D2A_uc009wsh.2_Missense_Mutation_p.H366P|SH2D2A_uc001fqe.2_Missense_Mutation_p.H338P|SH2D2A_uc010phs.1_Missense_Mutation_p.H356P NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597 NaN 0 0 0 0.080935 0 5 22 SERPINC1 462 broad.mit.edu 37 1 173881128 173881128 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:173881128C>G uc001gjt.2 - 3 552 c.433G>C c.(433-435)GAG>CAG p.E145Q NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 145 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GATGTTTTCTCAGATATGGTG 0.433 NaN 0 0 0 0.09836 0 43 115 PPP1R12B 4660 broad.mit.edu 37 1 202549682 202549682 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:202549682C>G uc001gya.1 + 24 3087 c.2943C>G c.(2941-2943)TCC>TCG p.S981S PPP1R12B_uc001gxz.1_3'UTR|PPP1R12B_uc001gyb.1_3'UTR|PPP1R12B_uc001gyc.1_Silent_p.S207S NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 981 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) GCAAACTGTCCAAGTAGGCTA 0.478 NaN 0 0 0 0.104719 0 44 28 ZC3H11A 9877 broad.mit.edu 37 1 203798669 203798669 + Missense_Mutation SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:203798669A>G uc001hac.2 + 8 1005 c.389A>G c.(388-390)AAT>AGT p.N130S ZC3H11A_uc001had.2_Missense_Mutation_p.N130S|ZC3H11A_uc001hae.2_Missense_Mutation_p.N130S|ZC3H11A_uc001haf.2_Missense_Mutation_p.N130S|ZC3H11A_uc010pqm.1_Missense_Mutation_p.N76S|ZC3H11A_uc001hag.1_Missense_Mutation_p.N130S NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 130 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GTCCAGTCCAATCCTTCCCCT 0.483 NaN 0 0 0 0.139131 0 121 55 CENPF 1063 broad.mit.edu 37 1 214825065 214825065 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:214825065G>C uc001hkm.2 + 15 8170 c.7996G>C c.(7996-7998)GAG>CAG p.E2666Q NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2762 Potential.|Sufficient for self-association.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TCAATTGAAGGAGCTCACACT 0.348 NaN 0 0 0 0.117977 0 46 20 TMEM63A 9725 broad.mit.edu 37 1 226055673 226055673 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:226055673C>T uc001hpm.1 - 7 679 c.429G>A c.(427-429)CAG>CAA p.Q143Q TMEM63A_uc010pvi.1_Silent_p.Q143Q NM_014698 NP_055513 O94886 TM63A_HUMAN transmembrane protein 63A 143 integral to membrane|lysosomal membrane nucleotide binding ovary(1)|breast(1) 2 Breast(184;0.197) TGATGTGCCTCTGGAAGGACA 0.542 NaN 0 0 0 0.139131 0 52 46 ZNF678 339500 broad.mit.edu 37 1 227842637 227842637 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:227842637G>C uc001hqw.1 + 4 1031 c.686G>C c.(685-687)AGA>ACA p.R229T ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 284 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) CAACATAAGAGAATTCATACT 0.378 NaN 0 0 0 0.086207 0 41 221 OBSCN 84033 broad.mit.edu 37 1 228399583 228399583 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:228399583C>T uc009xez.1 + 2 143 c.99C>T c.(97-99)ATC>ATT p.I33I OBSCN_uc001hsn.2_Silent_p.I33I|uc001hsm.1_Intron NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 33 Ig-like 1. 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) GCTGCCAGATCGTGGGTAATC 0.692 NaN 0 0 0 0.02938 0 7 18 SIPA1L2 57568 broad.mit.edu 37 1 232574863 232574863 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:232574863G>C uc001hvg.2 - 13 4180 c.4022C>G c.(4021-4023)TCT>TGT p.S1341C SIPA1L2_uc001hvf.2_Missense_Mutation_p.S415C NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1341 Ser-rich. 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) CCTGGAATGAGAGGATATCTC 0.582 NaN 0 0 0 0.043863 0 19 76 LYST 1130 broad.mit.edu 37 1 235969730 235969730 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:235969730G>C uc001hxj.2 - 6 2881 c.2706C>G c.(2704-2706)CTC>CTG p.L902L LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L902L NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 902 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAGCCACACAGAGGAATAGGT 0.438 NaN Chediak-Higashi_syndrome 0 0 0 0.139131 0 68 187 RYR2 6262 broad.mit.edu 37 1 237794757 237794757 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:237794757G>A uc001hyl.1 + 42 6591 c.6471G>A c.(6469-6471)CAG>CAA p.Q2157Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2157 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) TGTTTTACCAGCACCCTAATC 0.448 NaN 0 0 0 0.069456 0 33 28 ZNF672 79894 broad.mit.edu 37 1 249142042 249142042 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:249142042C>G uc001iex.2 + 4 1264 c.569C>G c.(568-570)CCC>CGC p.P190R NM_024836 NP_079112 Q499Z4 ZN672_HUMAN zinc finger protein 672 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) TCCCGGAGCCCCACGCGACCC 0.716 NaN 0 0 0 0.02938 0 6 17 ST8SIA6 338596 broad.mit.edu 37 10 17373460 17373460 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:17373460C>T uc001ipd.2 - 5 469 c.469G>A c.(469-471)GAA>AAA p.E157K ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 157 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 TTTTTGCTTTCCACCTCGTAA 0.393 NaN 0 0 0 0.062417 0 22 63 MLLT10 8028 broad.mit.edu 37 10 21962602 21962602 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:21962602G>A uc001iqs.2 + 11 1723 c.1375G>A c.(1375-1377)GAA>AAA p.E459K MLLT10_uc001iqt.2_Missense_Mutation_p.E459K|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.E459K|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001irb.2_RNA|MLLT10_uc001iqz.2_Missense_Mutation_p.E214K NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 459 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 TTCTGGCATAGAAGAAGAAAC 0.398 NaN T MLL|PICALM|CDK6 AL 0 0 0 0.139131 0 86 200 C10orf68 79741 broad.mit.edu 37 10 33000562 33000562 + Missense_Mutation SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:33000562T>A uc001iwn.3 + 7 867 c.394T>A c.(394-396)TCA>ACA p.S132T C10orf68_uc001iwl.1_Missense_Mutation_p.S140T|C10orf68_uc001iwm.1_Missense_Mutation_p.S108T|C10orf68_uc010qei.1_Missense_Mutation_p.S59T NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 132 skin(2)|ovary(1) 3 TGATGAAGAATCAGGTGAAAA 0.338 NaN 0 0 0 0.09319 0 11 57 ANKRD30A 91074 broad.mit.edu 37 10 37508817 37508817 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:37508817G>A uc001iza.1 + 34 4108 c.4009G>A c.(4009-4011)GAA>AAA p.E1337K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1393 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AGAGAAAGCAGAAACAGAAGT 0.279 NaN 0 0 0 0.115264 0 2 12 RET 5979 broad.mit.edu 37 10 43620387 43620387 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:43620387C>A uc001jal.2 + 18 3186 c.2996C>A c.(2995-2997)GCG>GAG p.A999E RET_uc001jak.1_Missense_Mutation_p.A999E|RET_uc010qez.1_Missense_Mutation_p.A745E NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 999 Protein kinase.|Cytoplasmic (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) CCGGTGTTTGCGGACATCAGC 0.557 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 1 0 4.4004e-07 0.083992 4.57955e-07 21 69 SYT15 83849 broad.mit.edu 37 10 46967428 46967428 + Nonsense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:46967428G>A uc001jea.2 - 4 802 c.649C>T c.(649-651)CAG>TAG p.Q217* SYT15_uc001jdz.2_Nonsense_Mutation_p.Q217*|SYT15_uc001jeb.2_Nonsense_Mutation_p.Q95*|SYT15_uc010qfp.1_RNA NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 217 Cytoplasmic (Potential).|C2 1. integral to membrane|plasma membrane 0 GGCTGTACCTGAAAGATGAAG 0.602 NaN 0 0 0 0.02938 0 7 67 MYOZ1 58529 broad.mit.edu 37 10 75391879 75391879 + Missense_Mutation SNP G G T rs149293567 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:75391879G>T uc001jur.2 - 6 1074 c.709C>A c.(709-711)CGC>AGC p.R237S NM_021245 NP_067068 Q9NP98 MYOZ1_HUMAN myozenin 1 237 myofibril assembly nucleus|pseudopodium FATZ binding ovary(2) 2 Prostate(51;0.0112) AAGGTCATGCGTTTGGAGGCC 0.473 NaN 1 0 0.000673444 0.069234 0.000680095 11 60 TRIM8 81603 broad.mit.edu 37 10 104404923 104404923 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:104404923G>T uc001kvz.2 + 1 672 c.549G>T c.(547-549)GAG>GAT p.E183D NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN tripartite motif-containing 8 183 Potential. cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCGACGTGGAGATCCGAAGGA 0.587 NaN 1 0 1.33987e-11 0.069234 1.42339e-11 10 11 C10orf79 80217 broad.mit.edu 37 10 105927390 105927390 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:105927390C>T uc001kxw.2 - 22 2913 c.2797G>A c.(2797-2799)GAG>AAG p.E933K C10orf79_uc009xxq.2_Missense_Mutation_p.E241K|C10orf79_uc001kxx.3_Missense_Mutation_p.E934K NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 933 Potential. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TTAAGACACTCTGCTTCAATC 0.358 NaN 0 0 0 0.0333 0 17 40 DMBT1 1755 broad.mit.edu 37 10 124348677 124348677 + Missense_Mutation SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:124348677T>A uc001lgk.1 + 17 2107 c.2001T>A c.(1999-2001)GAT>GAA p.D667E DMBT1_uc001lgl.1_Missense_Mutation_p.D657E|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.D667E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 667 SRCR 5. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTGTCCTGGATGATGTGCGCT 0.587 NaN 0 0 0 0.139131 0 110 94 DMBT1 1755 broad.mit.edu 37 10 124402857 124402857 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:124402857C>T uc001lgk.1 + 53 7291 c.7185C>T c.(7183-7185)GTC>GTT p.V2395V DMBT1_uc001lgl.1_Silent_p.V2385V|DMBT1_uc001lgm.1_Silent_p.V1767V|DMBT1_uc009xzz.1_Silent_p.V2394V|DMBT1_uc010qtx.1_Silent_p.V1115V|DMBT1_uc009yab.1_Silent_p.V1098V|DMBT1_uc009yac.1_Silent_p.V689V NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2395 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) AGGTGGACGTCGTCCTGGGTC 0.647 NaN 0 0 0 0.0333 0 17 41 TCERG1L 256536 broad.mit.edu 37 10 132891546 132891546 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:132891546C>A uc001lkp.2 - 12 1726 c.1640G>T c.(1639-1641)CGG>CTG p.R547L NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 547 FF 2. large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) CCTCTGATCCCGGCCGTATTT 0.443 NaN 1 0 0.000157383 0.038147 0.000160124 8 96 LSP1 4046 broad.mit.edu 37 11 1905742 1905742 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:1905742G>C uc001lui.2 + 7 823 c.648G>C c.(646-648)AAG>AAC p.K216N LSP1_uc001luj.2_Missense_Mutation_p.K344N|LSP1_uc001luk.2_Missense_Mutation_p.K154N|LSP1_uc001lul.2_Missense_Mutation_p.K154N|LSP1_uc001lum.2_Missense_Mutation_p.K154N NM_002339 NP_002330 P33241 LSP1_HUMAN lymphocyte-specific protein 1 isoform 1 216 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity large_intestine(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) ACAGTGTGAAGAAATCCCAGC 0.572 NaN 0 0 0 0.105934 0 14 43 SPON1 10418 broad.mit.edu 37 11 14276159 14276159 + Missense_Mutation SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:14276159T>A uc001mle.2 + 9 1514 c.976T>A c.(976-978)TGG>AGG p.W326R NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 326 Spondin. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) TAGTCCCGACTGGAACGTAGG 0.542 NaN 0 0 0 0.132662 0 14 42 LDLRAD3 143458 broad.mit.edu 37 11 36248840 36248840 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:36248840G>A uc001mwk.1 + 5 697 c.660G>A c.(658-660)CTG>CTA p.L220L LDLRAD3_uc010rey.1_Silent_p.L171L|LDLRAD3_uc010rez.1_Silent_p.L99L|LDLRAD3_uc010rfa.1_Intron NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain 220 Cytoplasmic (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) TGTCCCGCCTGGTGGTCCTGG 0.627 NaN 0 0 0 0.045705 0 34 41 OR5D13 390142 broad.mit.edu 37 11 55541543 55541543 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:55541543G>A uc010ril.1 + 1 630 c.630G>A c.(628-630)GTG>GTA p.V210V NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TCAATGAGGTGAGCAGCCTAA 0.403 NaN 0 0 0 0.069288 0 24 124 GIF 2694 broad.mit.edu 37 11 59609985 59609985 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:59609985C>G uc001noi.2 - 4 490 c.442G>C c.(442-444)GAG>CAG p.E148Q GIF_uc010rkz.1_3'UTR NM_005142 NP_005133 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 148 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding ovary(1)|liver(1) 2 AAGGTCGCCTCAGAGTTCTTC 0.577 NaN 0 0 0 0.055883 0 22 61 SLC22A25 387601 broad.mit.edu 37 11 62951183 62951183 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:62951183C>G uc001nwr.1 - 5 937 c.937G>C c.(937-939)GAC>CAC p.D313H SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.D313H NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 313 Cytoplasmic (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 GTTAGGATGTCTTCAGCATTC 0.438 NaN 0 0 0 0.139131 0 94 173 SF1 7536 broad.mit.edu 37 11 64544068 64544068 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:64544068C>T uc001obb.1 - 2 439 c.62G>A c.(61-63)CGC>CAC p.R21H SF1_uc010rnn.1_5'UTR|SF1_uc001oaz.1_Missense_Mutation_p.R146H|SF1_uc001oba.1_Missense_Mutation_p.R21H|SF1_uc001obc.1_Missense_Mutation_p.R21H|SF1_uc001obd.1_Missense_Mutation_p.R21H|SF1_uc001obe.1_5'UTR|SF1_uc010rno.1_5'UTR|SF1_uc001obf.2_Missense_Mutation_p.R21H NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 21 R->K: No effect.|R->A: Decreases interaction with U2AF2 and spliceosome assembly. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 TTGGTTCCAGCGGCTCCTCTT 0.428 NaN 0 0 0 0.09836 0 41 71 ADRBK1 156 broad.mit.edu 37 11 67051208 67051208 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:67051208C>T uc009yrn.1 + 16 1625 c.1359C>T c.(1357-1359)TTC>TTT p.F453F ADRBK1_uc009yrm.1_Intron NM_001619 NP_001610 P25098 ARBK1_HUMAN beta-adrenergic receptor kinase 1 453 Protein kinase. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GCCCCTTTTTCCGCTCCCTGG 0.542 NaN 0 0 0 0.049695 0 20 80 ANKRD13D 338692 broad.mit.edu 37 11 67068616 67068616 + Missense_Mutation SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:67068616T>C uc001okc.1 + 12 1479 c.968T>C c.(967-969)ATT>ACT p.I323T ANKRD13D_uc001okd.1_Missense_Mutation_p.I410T|ANKRD13D_uc001oke.1_Missense_Mutation_p.I323T|ANKRD13D_uc001okg.1_Missense_Mutation_p.I106T|ANKRD13D_uc001okh.1_Missense_Mutation_p.I106T|ANKRD13D_uc001oki.1_Missense_Mutation_p.I60T|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 323 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCCGTCAAAATTGGTGAGAGG 0.632 NaN 0 0 0 0.058154 0 10 35 AQP11 282679 broad.mit.edu 37 11 77301521 77301521 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:77301521G>A uc001oyj.2 + 1 842 c.484G>A c.(484-486)GAC>AAC p.D162N AQP11_uc009yuu.2_Intron NM_173039 NP_766627 Q8NBQ7 AQP11_HUMAN aquaporin 11 162 cell surface|integral to membrane transporter activity 0 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) CATCCGAGTCGACTTGCTCAA 0.567 NaN 0 0 0 0.050027 0 35 76 DYNC2H1 79659 broad.mit.edu 37 11 103049829 103049829 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:103049829G>T uc001pho.2 + 39 6358 c.6214G>T c.(6214-6216)GAT>TAT p.D2072Y DYNC2H1_uc001phn.1_Missense_Mutation_p.D2072Y|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2072 AAA 2 (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) TGTTCTGGATGATAATCGACT 0.388 NaN 1 0 5.50884e-06 0.09319 5.66109e-06 12 44 HTR3A 3359 broad.mit.edu 37 11 113856847 113856847 + Missense_Mutation SNP C C T rs139246177 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:113856847C>T uc010rxb.1 + 6 906 c.673C>T c.(673-675)CGG>TGG p.R225W HTR3A_uc010rxa.1_Missense_Mutation_p.R225W|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Missense_Mutation_p.R204W NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 219 Extracellular (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GCCCTACTTTCGGGAGTTCAG 0.478 NaN 0 0 0 0.139131 0 53 131 DDX6 1656 broad.mit.edu 37 11 118625512 118625512 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:118625512C>T uc001pub.2 - 13 1722 c.1361G>A c.(1360-1362)GGA>GAA p.G454E DDX6_uc001pua.2_Missense_Mutation_p.G154E|DDX6_uc001puc.2_Missense_Mutation_p.G454E NM_004397 NP_004388 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 454 Helicase C-terminal. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity ovary(1) 1 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) AATTTCTGTTCCCAGCTGCTC 0.423 NaN T IGH@ B-NHL 0 0 0 0.134883 0 31 55 BCL9L 283149 broad.mit.edu 37 11 118779098 118779098 + Missense_Mutation SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:118779098T>C uc001pug.2 - 2 1258 c.293A>G c.(292-294)CAG>CGG p.Q98R BCL9L_uc009zal.2_Missense_Mutation_p.Q93R NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 98 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CACCCCTGCCTGGGGGTTCTT 0.647 NaN 0 0 0 0.116897 0 28 42 ETS1 2113 broad.mit.edu 37 11 128354726 128354726 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:128354726G>A uc010sbs.1 - 5 1038 c.722C>T c.(721-723)ACC>ATC p.T241I ETS1_uc001qej.2_Missense_Mutation_p.T285I|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.T241I NM_005238 NP_005229 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene 241 MCMGRTSR -> FLPPPLPP (in Ref. 6; AAA52409). cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) ACCACGACTGGTCCTCCCCAT 0.418 NaN 0 0 0 0.076483 0 21 63 LEPREL2 10536 broad.mit.edu 37 12 6948245 6948245 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:6948245C>T uc001qra.1 + 16 2021 c.1987C>T c.(1987-1989)CGG>TGG p.R663W LEPREL2_uc001qqz.1_Missense_Mutation_p.R470W|LEPREL2_uc001qrb.1_Missense_Mutation_p.R470W|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank|GNB3_uc009zfe.2_5'Flank NM_014262 NP_055077 Q8IVL6 P3H3_HUMAN leprecan-like 2 precursor 663 Fe2OG dioxygenase. negative regulation of cell proliferation endoplasmic reticulum iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity 0 L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GGCCGTGACTCGGGGACGGCG 0.677 NaN 0 0 0 0.021553 0 6 25 TAS2R20 259295 broad.mit.edu 37 12 11150218 11150218 + Missense_Mutation SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:11150218T>A uc001qzm.2 - 1 257 c.257A>T c.(256-258)AAT>ATT p.N86I PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176889 NP_795370 P59543 T2R20_HUMAN taste receptor, type 2, member 20 86 Helical; Name=3; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 TGCCCAGGCATTAGAAATAAA 0.343 NaN 0 0 0 0.139131 0 62 56 PLEKHA5 54477 broad.mit.edu 37 12 19406895 19406895 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:19406895C>T uc001reb.2 + 4 335 c.249C>T c.(247-249)ACC>ACT p.T83T PLEKHA5_uc010sie.1_Silent_p.T83T|PLEKHA5_uc001rea.2_Silent_p.T83T|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc010sif.1_5'UTR|PLEKHA5_uc010sig.1_5'UTR|PLEKHA5_uc010sih.1_5'UTR NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 83 WW 2. 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GGAAAGTGACCTGCAAACATC 0.323 NaN 0 0 0 0.139131 0 109 79 C12orf71 728858 broad.mit.edu 37 12 27235288 27235288 + Silent SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:27235288A>G uc001rhq.2 - 1 168 c.129T>C c.(127-129)GAT>GAC p.D43D NM_001080406 NP_001073875 A8MTZ7 CL071_HUMAN hypothetical protein LOC728858 43 0 TGGAAGGTGCATCTTCCCAGG 0.547 NaN 0 0 0 0.058154 0 9 43 DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:31237922G>C uc001rjt.1 + 5 751 c.500G>C c.(499-501)AGA>ACA p.R167T DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612 NaN Multiple Myeloma(12;0.14) 0 0 0 0.009096 0 3 14 NELL2 4753 broad.mit.edu 37 12 45173749 45173749 + Nonsense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:45173749G>C uc001rog.2 - 4 987 c.392C>G c.(391-393)TCA>TGA p.S131* NELL2_uc001rof.3_Nonsense_Mutation_p.S130*|NELL2_uc001roh.2_Nonsense_Mutation_p.S131*|NELL2_uc009zkd.2_Nonsense_Mutation_p.S130*|NELL2_uc010skz.1_Nonsense_Mutation_p.S181*|NELL2_uc010sla.1_Nonsense_Mutation_p.S154*|NELL2_uc001roi.1_Nonsense_Mutation_p.S131*|NELL2_uc010slb.1_Nonsense_Mutation_p.S130*|NELL2_uc001roj.2_Nonsense_Mutation_p.S131* NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 131 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) GTGACTGCCTGAGCGGTAATG 0.468 NaN 0 0 0 0.116897 0 28 132 PLEKHA9 51054 broad.mit.edu 37 12 45567959 45567959 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:45567959C>G uc001rom.1 - 3 727 c.190G>C c.(190-192)GAG>CAG p.E64Q PLEKHA9_uc009zke.2_Missense_Mutation_p.E64Q NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) TAGAGCAGCTCAGAGGTGAAG 0.443 NaN 0 0 0 0.139131 0 50 154 AQP6 363 broad.mit.edu 37 12 50368531 50368531 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:50368531C>T uc001rvr.1 + 3 901 c.564C>T c.(562-564)ATC>ATT p.I188I AQP6_uc001rvp.1_Silent_p.I14I|AQP6_uc001rvq.1_RNA NM_001652 NP_001643 Q13520 AQP6_HUMAN aquaporin 6 188 Helical; (Potential). excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity 0 CTCCCCAGATCCACTTCACTG 0.607 NaN OREG0021809 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.059317 0 33 21 RACGAP1 29127 broad.mit.edu 37 12 50390835 50390835 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:50390835G>C uc001rvt.2 - 12 1342 c.1032C>G c.(1030-1032)GTC>GTG p.V344V RACGAP1_uc009zlm.1_Silent_p.V344V|RACGAP1_uc001rvs.2_Silent_p.V344V|RACGAP1_uc001rvu.2_Silent_p.V344V NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 344 blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 CTCCAATCTTGACAGGTGTTC 0.443 NaN 0 0 0 0.069288 0 22 78 DNAJC14 85406 broad.mit.edu 37 12 56216185 56216185 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:56216185G>A uc001shx.1 - 6 2074 c.1870C>T c.(1870-1872)CGG>TGG p.R624W DNAJC14_uc001shu.1_Missense_Mutation_p.R624W|DNAJC14_uc009zob.1_Missense_Mutation_p.R624W NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 624 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 CCTGGAATCCGAGAACCAAAT 0.453 NaN OREG0021910 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.0918 0 23 87 IKZF4 64375 broad.mit.edu 37 12 56427078 56427078 + Nonsense_Mutation SNP A A T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:56427078A>T uc001sjb.1 + 8 1129 c.970A>T c.(970-972)AAG>TAG p.K324* IKZF4_uc010sqa.1_Nonsense_Mutation_p.K277*|IKZF4_uc001sjc.1_Nonsense_Mutation_p.K324*|IKZF4_uc001sjd.1_Nonsense_Mutation_p.K222*|IKZF4_uc009zoi.1_Nonsense_Mutation_p.K279*|IKZF4_uc001sje.1_Nonsense_Mutation_p.K283* NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN zinc finger protein, subfamily 1A, 4 324 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CACCAAACGCAAGCGTTCCAC 0.502 NaN 0 0 0 0.144211 0 26 247 OS9 10956 broad.mit.edu 37 12 58110272 58110272 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:58110272G>C uc001spj.2 + 8 1029 c.970G>C c.(970-972)GGA>CGA p.G324R OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.G324R|OS9_uc001spl.2_Missense_Mutation_p.G324R|OS9_uc001spm.2_Missense_Mutation_p.G324R|OS9_uc001spn.2_Missense_Mutation_p.G325R|OS9_uc010sry.1_Missense_Mutation_p.G292R|OS9_uc010srz.1_Missense_Mutation_p.G265R NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 324 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CCAGGCCCCAGGAGGGGAGGA 0.597 NaN 0 0 0 0.115264 0 2 6 APPL2 55198 broad.mit.edu 37 12 105593247 105593247 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:105593247G>A uc001tlf.1 - 10 985 c.767C>T c.(766-768)TCT>TTT p.S256F APPL2_uc010swt.1_Missense_Mutation_p.S213F|APPL2_uc001tlg.1_Missense_Mutation_p.S10F|APPL2_uc010swu.1_Missense_Mutation_p.S262F|APPL2_uc009zuq.2_Missense_Mutation_p.S213F NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 256 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 TTCATCAACAGAAAGTAATTC 0.473 NaN 0 0 0 0.092188 0 40 29 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:106820975C>T uc001tlp.2 + 13 1324 c.1102C>T c.(1102-1104)CTT>TTT p.L368F POLR3B_uc001tlq.2_Missense_Mutation_p.L310F NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TTTTTTTTAGCTTTTATCTCT 0.274 NaN 0 0 0 0.021553 0 4 9 ACACB 32 broad.mit.edu 37 12 109702055 109702055 + Missense_Mutation SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:109702055A>G uc001tob.2 + 50 6925 c.6806A>G c.(6805-6807)GAC>GGC p.D2269G ACACB_uc001toc.2_Missense_Mutation_p.D2269G|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.D935G NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2269 Carboxyltransferase. 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) GATCTCTCCGACAAGGACCGA 0.552 NaN OREG0022102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.059317 0 33 123 UBE3B 89910 broad.mit.edu 37 12 109939197 109939197 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:109939197G>A uc001top.2 + 13 1743 c.1140G>A c.(1138-1140)TTG>TTA p.L380L UBE3B_uc001toq.2_Silent_p.L380L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L380L NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 380 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 CAATGCACTTGATCACCAAAC 0.557 NaN 0 0 0 0.139131 0 111 76 KNTC1 9735 broad.mit.edu 37 12 123024233 123024233 + Missense_Mutation SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:123024233A>G uc001ucv.2 + 5 540 c.377A>G c.(376-378)CAG>CGG p.Q126R KNTC1_uc010taf.1_Missense_Mutation_p.Q126R NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 126 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GCATTTGTTCAGAAAGCTAAC 0.264 NaN 0 0 0 0.115264 0 3 1 EP400 57634 broad.mit.edu 37 12 132502842 132502842 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:132502842C>T uc001ujn.2 + 20 4233 c.4198C>T c.(4198-4200)CCG>TCG p.P1400S EP400_uc001ujl.2_Missense_Mutation_p.P1399S|EP400_uc001ujm.2_Missense_Mutation_p.P1400S NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1436 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.R1400W(1) central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GAAAAAGATACCGCGGAAACT 0.502 NaN 0 0 0 0.134883 0 31 47 N6AMT2 221143 broad.mit.edu 37 13 21331724 21331724 + Missense_Mutation SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:21331724T>A uc001uno.1 - 2 95 c.14A>T c.(13-15)GAA>GTA p.E5V N6AMT2_uc009zzr.1_Missense_Mutation_p.E5V|N6AMT2_uc001unp.2_RNA NM_174928 NP_777588 Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 5 methyltransferase activity|nucleic acid binding 0 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) CTCATCATCTTCCAAATCACT 0.403 NaN 0 0 0 0.080935 0 11 79 RNF17 56163 broad.mit.edu 37 13 25416223 25416223 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:25416223C>G uc001upr.2 + 19 2568 c.2527C>G c.(2527-2529)CTT>GTT p.L843V RNF17_uc010tdd.1_Missense_Mutation_p.L702V|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.L843V|RNF17_uc001ups.2_Missense_Mutation_p.L782V|RNF17_uc010aac.2_Missense_Mutation_p.L41V|RNF17_uc010aad.2_5'Flank NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 843 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTTCGATTCTCTTGGTGCTCC 0.333 NaN 0 0 0 0.038147 0 7 70 SMAD9 4093 broad.mit.edu 37 13 37439763 37439763 + Nonsense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:37439763G>C uc001uvw.2 - 5 1257 c.914C>G c.(913-915)TCA>TGA p.S305* SMAD9_uc001uvx.2_Nonsense_Mutation_p.S268*|SMAD9_uc010tep.1_Nonsense_Mutation_p.S98* NM_001127217 NP_001120689 O15198 SMAD9_HUMAN SMAD family member 9 isoform a 305 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) CCTGTTATTTGAAGGGTCGGT 0.453 NaN 0 0 0 0.076483 0 23 45 LHFP 10186 broad.mit.edu 37 13 39918097 39918097 + Missense_Mutation SNP C C G rs142420975 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:39918097C>G uc001uxf.2 - 4 1090 c.579G>C c.(577-579)AAG>AAC p.K193N NM_005780 NP_005771 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner precursor 193 integral to membrane DNA binding HMGA2/LHFP(2) soft_tissue(2)|lung(1)|breast(1) 4 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) GCTTCTGTTTCTTGCCCGAAA 0.557 NaN T HMGA2 lipoma 0 0 0 0.124865 0 45 43 PCDH8 5100 broad.mit.edu 37 13 53420180 53420180 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:53420180C>T uc001vhi.2 - 1 2595 c.2392G>A c.(2392-2394)GGA>AGA p.G798R PCDH8_uc001vhj.2_Intron NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 798 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GCCGAGGCTccgccgcccgcc 0.637 NaN 0 0 0 0.009096 0 4 12 DCT 1638 broad.mit.edu 37 13 95114445 95114445 + Splice_Site SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:95114445T>A uc001vlv.3 - 5 1291 c.864_splice c.e5-1 p.S288_splice DCT_uc010afh.2_Splice_Site_p.S288_splice NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TCATCCAAGCTAAGATTTGTA 0.239 NaN 0 0 0 0.047766 0 9 47 NALCN 259232 broad.mit.edu 37 13 101944717 101944717 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:101944717C>G uc001vox.1 - 8 989 c.800G>C c.(799-801)GGA>GCA p.G267A NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.G267A|NALCN_uc001vpa.2_Missense_Mutation_p.G267A NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 267 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TATACTAGTTCCTGTCATGAC 0.433 NaN 0 0 0 0.076483 0 23 28 MCF2L 23263 broad.mit.edu 37 13 113729380 113729380 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:113729380G>A uc001vsu.2 + 11 1378 c.1356G>A c.(1354-1356)GCG>GCA p.A452A MCF2L_uc001vsq.2_Silent_p.A452A|MCF2L_uc010tjr.1_Silent_p.A395A|MCF2L_uc001vsr.2_Silent_p.A399A|MCF2L_uc001vss.3_Silent_p.A393A|MCF2L_uc010tjs.1_Silent_p.A393A|MCF2L_uc001vst.1_Silent_p.A357A NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 425 Spectrin. 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) AGCACTACGCGGTAGACTCCA 0.657 NaN 0 0 0 0.125774 0 28 62 RNASE4 6038 broad.mit.edu 37 14 21167916 21167916 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:21167916G>C uc001vxy.3 + 2 949 c.386G>C c.(385-387)AGA>ACA p.R129T RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.R129T NM_002937 NP_002928 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 precursor 129 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1) 1 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) GCGAGCACTAGACGTGTTGTC 0.527 NaN 0 0 0 0.139131 0 88 104 BAZ1A 11177 broad.mit.edu 37 14 35227931 35227931 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:35227931C>G uc001wsk.2 - 25 4933 c.4365G>C c.(4363-4365)TTG>TTC p.L1455F BAZ1A_uc001wsl.2_Missense_Mutation_p.L1423F NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1455 Bromo. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AAACAAGTTTCAAAAAAGGCC 0.373 NaN 0 0 0 0.069288 0 24 62 ZFYVE26 23503 broad.mit.edu 37 14 68264823 68264823 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:68264823C>T uc001xka.2 - 11 2295 c.2156G>A c.(2155-2157)AGA>AAA p.R719K ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R719K|ZFYVE26_uc010tta.1_Missense_Mutation_p.R719K NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 719 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CAGTCCATCTCTGCTTCCTGA 0.557 NaN 0 0 0 0.139131 0 62 71 VASH1 22846 broad.mit.edu 37 14 77242405 77242405 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:77242405G>A uc001xst.2 + 5 1631 c.701G>A c.(700-702)CGC>CAC p.R234H NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN vasohibin 1 234 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) CCCGCCTTCCGCACGCTCAGC 0.672 NaN 0 0 0 0.038147 0 7 19 FLRT2 23768 broad.mit.edu 37 14 86089433 86089433 + Silent SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:86089433A>G uc001xvr.2 + 2 2342 c.1575A>G c.(1573-1575)ACA>ACG p.T525T FLRT2_uc010atd.2_Silent_p.T525T NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 525 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GCAGCAACACAGCGTCCAGCC 0.577 NaN 0 0 0 0.055883 0 21 143 MOAP1 64112 broad.mit.edu 37 14 93650482 93650482 + Nonsense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:93650482C>A uc001ybj.2 - 3 476 c.106G>T c.(106-108)GAG>TAG p.E36* C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank NM_022151 NP_071434 Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 36 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity skin(2)|ovary(1) 3 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) agagcctcctcgatttctgcc 0 NaN 1 0 7.97055e-49 0.139131 8.90698e-49 122 147 BCL11B 64919 broad.mit.edu 37 14 99641436 99641436 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:99641436C>T uc001yga.2 - 4 2004 c.1737G>A c.(1735-1737)GCG>GCA p.A579A BCL11B_uc001ygb.2_Silent_p.A508A NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 579 Gly-rich. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) cgccgccccccgcgcccggga 0.557 NaN T TLX3 T-ALL 0 0 0 0.047766 0 8 19 HSP90AA1 3320 broad.mit.edu 37 14 102549376 102549376 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:102549376C>T uc001yku.3 - 9 1940 c.1750G>A c.(1750-1752)GAA>AAA p.E584K HSP90AA1_uc001ykv.3_Missense_Mutation_p.E706K|HSP90AA1_uc001ykw.1_Missense_Mutation_p.E405K|HSP90AA1_uc001ykx.1_Missense_Mutation_p.E573K NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 584 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) CATACCTTTTCAACTTTTTTC 0.194 NaN 0 0 0 0.050027 0 35 34 HERC2 8924 broad.mit.edu 37 15 28456214 28456214 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:28456214G>T uc001zbj.2 - 44 7109 c.7003C>A c.(7003-7005)CAC>AAC p.H2335N NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2335 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTATCCTGGTGGGAGAGCAGC 0.502 NaN 1 0 1.56452e-12 0.043863 1.67073e-12 19 116 SEMA6D 80031 broad.mit.edu 37 15 48057100 48057100 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:48057100C>T uc010bek.2 + 13 1634 c.1274C>T c.(1273-1275)TCA>TTA p.S425L SEMA6D_uc001zvw.2_Missense_Mutation_p.S425L|SEMA6D_uc001zvx.1_Missense_Mutation_p.S425L|SEMA6D_uc001zvy.2_Missense_Mutation_p.S425L|SEMA6D_uc001zvz.2_Missense_Mutation_p.S425L|SEMA6D_uc001zwa.2_Missense_Mutation_p.S425L|SEMA6D_uc001zwb.2_Missense_Mutation_p.S425L|SEMA6D_uc001zwc.2_Missense_Mutation_p.S425L NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 425 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ACGGCCATCTCAGTGGACCAT 0.512 NaN 0 0 0 0.055883 0 22 60 MYO9A 4649 broad.mit.edu 37 15 72122642 72122642 + Missense_Mutation SNP C C T rs142345927 byFrequency TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:72122642C>T uc002atl.3 - 40 7321 c.6848G>A c.(6847-6849)CGT>CAT p.R2283H MYO9A_uc002atj.2_Missense_Mutation_p.R214H|MYO9A_uc002atk.2_Missense_Mutation_p.R1078H NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 2283 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity p.R2283H(1) ovary(1)|pancreas(1)|skin(1) 3 TCGACGAATACGCCCCTTTCC 0.443 NaN 0 0 0 0.009096 0 4 89 ULK3 25989 broad.mit.edu 37 15 75134485 75134485 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:75134485G>A uc010bkf.1 - 3 401 c.295C>T c.(295-297)CTG>TTG p.L99L ULK3_uc010ulp.1_Silent_p.L9L|ULK3_uc010ulq.1_Silent_p.L110L|ULK3_uc010ulr.1_Intron|ULK3_uc002ayv.2_Silent_p.L99L|ULK3_uc010uls.1_Intron|ULK3_uc010ult.1_Silent_p.L9L|ULK3_uc010ulu.1_Silent_p.L9L NM_001099436 NP_001092906 Q6PHR2 ULK3_HUMAN unc-51-like kinase 3 99 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(2) 2 AAGCGAGACAGGTCGCCCCCT 0.547 NaN 0 0 0 0.014758 0 5 104 AEN 64782 broad.mit.edu 37 15 89173447 89173447 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:89173447G>A uc002bmt.2 + 4 1051 c.900G>A c.(898-900)ATG>ATA p.M300I AEN_uc010bnm.1_Missense_Mutation_p.M300I NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene 300 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 AACAGTACATGGAGGACCAGT 0.647 NaN 0 0 0 0.014758 0 5 8 GRIN2A 2903 broad.mit.edu 37 16 9857673 9857673 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:9857673C>A uc002czo.3 - 13 4276 c.3728G>T c.(3727-3729)GGG>GTG p.G1243V GRIN2A_uc010uym.1_Missense_Mutation_p.G1243V|GRIN2A_uc010uyn.1_Missense_Mutation_p.G1086V|GRIN2A_uc002czr.3_Missense_Mutation_p.G1243V NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1243 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATAGAGGTTCCCCATCCGCAG 0.572 NaN 1 0 1.50372e-20 0.139131 1.63136e-20 68 52 NDE1 54820 broad.mit.edu 37 16 15758666 15758666 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:15758666G>A uc002ddt.1 + 1 74 c.31G>A c.(31-33)GAG>AAG p.E11K NDE1_uc010uzy.1_Missense_Mutation_p.E11K|NDE1_uc002dds.2_Missense_Mutation_p.E11K NM_017668 NP_060138 Q9NXR1 NDE1_HUMAN nuclear distribution gene E homolog 1 11 Self-association (By similarity). cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding ovary(1) 1 TTTCAGCTCCGAGGAGGAAGA 0.408 NaN 0 0 0 0.139131 0 46 98 XYLT1 64131 broad.mit.edu 37 16 17211827 17211827 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:17211827C>T uc002dfa.2 - 11 2318 c.2233G>A c.(2233-2235)GAC>AAC p.D745N NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 745 Lumenal (Potential). D->G: Abolishes enzyme activity but does not affect UDP-binding.|D->E: No effect. glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GCATCCCAGTCAGTGCCGACC 0.547 NaN 0 0 0 0.105934 0 11 56 KIAA0556 23247 broad.mit.edu 37 16 27761548 27761548 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:27761548G>A uc002dow.2 + 16 3291 c.3267G>A c.(3265-3267)GTG>GTA p.V1089V NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1089 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 TCCGAGGCGTGAAGGACATCA 0.502 NaN 0 0 0 0.086207 0 41 72 ATXN2L 11273 broad.mit.edu 37 16 28840778 28840778 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:28840778G>A uc002drc.2 + 7 966 c.798G>A c.(796-798)GTG>GTA p.V266V uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.V266V|ATXN2L_uc002drb.2_Silent_p.V266V|ATXN2L_uc002dqy.2_Silent_p.V266V|ATXN2L_uc002dra.2_Silent_p.V266V|ATXN2L_uc002dqz.2_Silent_p.V266V|ATXN2L_uc010vdb.1_Silent_p.V266V|ATXN2L_uc002dre.2_Silent_p.V266V|ATXN2L_uc002drf.2_Intron NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 266 membrane upper_aerodigestive_tract(1)|ovary(1) 2 ACTACGGTGTGAAGACTACCT 0.458 NaN 0 0 0 0.02938 0 6 58 SEZ6L2 26470 broad.mit.edu 37 16 29900017 29900017 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:29900017G>A uc002duq.3 - 6 1123 c.883C>T c.(883-885)CGG>TGG p.R295W uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.R225W|SEZ6L2_uc002dur.3_Missense_Mutation_p.R225W|SEZ6L2_uc002dus.3_Missense_Mutation_p.R181W|SEZ6L2_uc010vec.1_Missense_Mutation_p.R295W|SEZ6L2_uc010ved.1_Missense_Mutation_p.R251W NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 295 Sushi 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 TGGGCCGGCCGGGGAGGGAAG 0.642 NaN 0 0 0 0.099896 0 23 30 STX4 6810 broad.mit.edu 37 16 31051055 31051055 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:31051055G>C uc002eal.2 + 10 1049 c.825G>C c.(823-825)TTG>TTC p.L275F STX4_uc002eak.2_Missense_Mutation_p.L273F|STX4_uc002eam.2_Missense_Mutation_p.L197F|uc002ean.1_5'Flank NM_004604 NP_004595 Q12846 STX4_HUMAN syntaxin 4 275 Cytoplasmic (Potential).|Interaction with CENPF (By similarity). intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity 0 AGAAAGTCTTGATTGCCATCT 0.572 NaN 0 0 0 0.139131 0 80 181 KARS 3735 broad.mit.edu 37 16 75670391 75670391 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:75670391C>T uc002feq.2 - 4 491 c.443G>A c.(442-444)CGA>CAA p.R148Q KARS_uc002fer.2_Missense_Mutation_p.R176Q|KARS_uc002fes.2_5'UTR|KARS_uc010cgz.2_5'UTR NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 148 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) CCCCTCTCCTCGAAGATCATA 0.453 NaN 0 0 0 0.09836 0 38 223 ADAMTS18 170692 broad.mit.edu 37 16 77356322 77356322 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:77356322C>G uc002ffc.3 - 14 2493 c.2074G>C c.(2074-2076)GAA>CAA p.E692Q ADAMTS18_uc010chc.1_Missense_Mutation_p.E280Q|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E388Q NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 692 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 AAAAAAAATTCAAAGTTCTCA 0.393 NaN 0 0 0 0.038395 0 17 102 CENPN 55839 broad.mit.edu 37 16 81045675 81045675 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:81045675G>A uc002ffx.2 + 2 921 c.131G>A c.(130-132)AGA>AAA p.R44K CENPN_uc002ffw.3_Missense_Mutation_p.R44K|CENPN_uc010vnl.1_Missense_Mutation_p.R44K|CENPN_uc010vnm.1_Missense_Mutation_p.R44K|CENPN_uc002ffy.3_Missense_Mutation_p.R44K NM_001100624 NP_001094094 Q96H22 CENPN_HUMAN centromere protein N isoform 2 44 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm 0 TTCCGACAGAGAAAGGAATCT 0.418 NaN 0 0 0 0.069234 0 11 79 PKD1L2 114780 broad.mit.edu 37 16 81194496 81194496 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:81194496C>T uc002fgh.1 - 22 3492 c.3492G>A c.(3490-3492)CGG>CGA p.R1164R PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1164 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTTGTGAATGCCGGGGCAGCA 0.562 NaN 0 0 0 0.009096 0 3 51 ZC3H18 124245 broad.mit.edu 37 16 88644047 88644047 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:88644047G>C uc002fky.2 + 2 716 c.516G>C c.(514-516)CAG>CAC p.Q172H ZC3H18_uc010voy.1_Intron|ZC3H18_uc010voz.1_Missense_Mutation_p.Q172H|ZC3H18_uc010vpa.1_Missense_Mutation_p.Q172H NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 172 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) CTGGTGTTCAGAGTGTGGGAG 0.557 NaN 0 0 0 0.058154 0 7 60 CDT1 81620 broad.mit.edu 37 16 88870299 88870299 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:88870299C>G uc002flu.2 + 1 114 c.60C>G c.(58-60)ATC>ATG p.I20M NM_030928 NP_112190 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 20 PIP-box K+4 motif. DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) ccccccgcATCGCGCCGCCCA 0.572 NaN 0 0 0 0.115264 0 2 7 TCF25 22980 broad.mit.edu 37 16 89952289 89952289 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:89952289G>C uc002fpb.2 + 4 545 c.463G>C c.(463-465)GAG>CAG p.E155Q TCF25_uc002fpc.2_5'UTR NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN NULP1 155 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCGCATCCTAGAGAGGATTGA 0.458 NaN 0 0 0 0.139131 0 48 60 VPS53 55275 broad.mit.edu 37 17 556596 556596 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:556596C>T uc002frn.2 - 7 690 c.543G>A c.(541-543)GTG>GTA p.V181V VPS53_uc002frk.2_Intron|VPS53_uc010cjo.1_Silent_p.V181V|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.V152V|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Intron NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 181 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GGACATTCATCACACCCTGAA 0.448 NaN 0 0 0 0.076483 0 23 265 P2RX5 5026 broad.mit.edu 37 17 3593444 3593444 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:3593444C>T uc002fwi.2 - 6 818 c.534G>A c.(532-534)GAG>GAA p.E178E P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Silent_p.E178E|P2RX5_uc010vrx.1_Silent_p.E118E|P2RX5_uc002fwj.2_Silent_p.E154E|P2RX5_uc002fwk.2_Silent_p.E178E|P2RX5_uc002fwl.2_Silent_p.E154E NM_002561 NP_002552 Q93086 P2RX5_HUMAN purinergic receptor P2X5 isoform A 178 Extracellular (Potential). nervous system development|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 GGAATGGCTCCCTGAAAACCA 0.577 NaN 0 0 0 0.139131 0 50 190 ZNF232 7775 broad.mit.edu 37 17 5009425 5009425 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:5009425G>A uc002gas.2 - 5 1702 c.948C>T c.(946-948)AGC>AGT p.S316S ZNF232_uc002gar.1_Silent_p.S334S|ZNF232_uc002gat.2_Silent_p.S343S NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 316 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 CGAGGTTTGAGCTCTGTTTGA 0.433 NaN 0 0 0 0.080935 0 11 206 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:7578457C>T uc002gim.2 - 5 667 c.473G>A c.(472-474)CGC>CAC p.R158H TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.0333 0 17 25 C17orf68 80169 broad.mit.edu 37 17 8141719 8141719 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:8141719C>G uc002gkq.3 - 3 485 c.426G>C c.(424-426)CTG>CTC p.L142L C17orf68_uc010cnv.2_RNA NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 142 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 CCTCACAGCTCAGGACGCCAG 0.488 NaN 0 0 0 0.074837 0 36 224 MYH13 8735 broad.mit.edu 37 17 10235464 10235464 + Silent SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:10235464G>T uc002gmk.1 - 20 2340 c.2250C>A c.(2248-2250)CTC>CTA p.L750L NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 750 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CGATGGAGTTGAGGAGCTTCT 0.552 NaN 1 0 1.05317e-09 0.11911 1.11017e-09 14 130 MYH1 4619 broad.mit.edu 37 17 10415489 10415489 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:10415489G>C uc002gmo.2 - 13 1262 c.1168C>G c.(1168-1170)CTC>GTC p.L390V uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 390 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AGATTTTGGAGATAGGCTGCC 0.453 NaN 0 0 0 0.139131 0 238 219 MYH3 4621 broad.mit.edu 37 17 10542949 10542949 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:10542949G>C uc002gmq.1 - 22 2930 c.2853C>G c.(2851-2853)CTC>CTG p.L951L NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 951 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TGTCTTTCTTGAGCTCTGAGC 0.478 NaN 0 0 0 0.139131 0 117 297 LGALS9 3965 broad.mit.edu 37 17 25967659 25967659 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:25967659C>T uc002gzp.2 + 3 311 c.193C>T c.(193-195)CGG>TGG p.R65W LGALS9_uc002gzq.2_Missense_Mutation_p.R65W|LGALS9_uc002gzr.2_Intron|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Missense_Mutation_p.R65W NM_009587 NP_033665 O00182 LEG9_HUMAN galectin-9 isoform long 65 Galectin 1. Beta-galactoside 1. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity 0 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) CTTCAACCCTCGGTTTGAAGA 0.537 NaN 0 0 0 0.139131 0 48 69 SUPT6H 6830 broad.mit.edu 37 17 27000441 27000441 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:27000441G>A uc002hby.2 + 2 112 c.22G>A c.(22-24)GAG>AAG p.E8K SUPT6H_uc010crt.2_Missense_Mutation_p.E8K NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 8 Asp/Glu-rich. 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) TGTGGAAAGCGAGGCTGAGGA 0.468 NaN 0 0 0 0.09319 0 9 36 MYO18A 399687 broad.mit.edu 37 17 27447636 27447636 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:27447636G>C uc002hdt.1 - 7 1884 c.1726C>G c.(1726-1728)CAG>GAG p.Q576E MYO18A_uc010wbc.1_Missense_Mutation_p.Q118E|MYO18A_uc002hds.2_Missense_Mutation_p.Q118E|MYO18A_uc010csa.1_Missense_Mutation_p.Q576E|MYO18A_uc002hdu.1_Missense_Mutation_p.Q576E|MYO18A_uc010wbd.1_Missense_Mutation_p.Q245E NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 576 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ACTCTCACCTGAATGGAGGCT 0.562 NaN 0 0 0 0.132662 0 16 26 EFCAB5 374786 broad.mit.edu 37 17 28405274 28405274 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:28405274G>A uc002het.2 + 15 2971 c.2779G>A c.(2779-2781)GAA>AAA p.E927K EFCAB5_uc010cse.2_Missense_Mutation_p.E682K|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 927 calcium ion binding ovary(1)|skin(1) 2 CCCTGGTCACGAAGTGAGATT 0.413 NaN 0 0 0 0.083992 0 25 71 SPACA3 124912 broad.mit.edu 37 17 31324480 31324480 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:31324480C>T uc002hhs.1 + 4 595 c.520C>T c.(520-522)CTC>TTC p.L174F SPACA3_uc010cte.1_RNA NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 174 Extracellular (Potential). cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.193) GAATCCTAATCTCAAGGATAC 0.413 NaN 0 0 0 0.139131 0 55 101 SPACA3 124912 broad.mit.edu 37 17 31324482 31324482 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:31324482C>T uc002hhs.1 + 4 597 c.522C>T c.(520-522)CTC>CTT p.L174L SPACA3_uc010cte.1_RNA NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 174 Extracellular (Potential). cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.193) ATCCTAATCTCAAGGATACCG 0.413 NaN 0 0 0 0.139131 0 56 102 MYO19 80179 broad.mit.edu 37 17 34869487 34869487 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:34869487C>T uc010wcy.1 - 11 1794 c.802G>A c.(802-804)GAG>AAG p.E268K MYO19_uc002hmw.2_Missense_Mutation_p.E268K|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA|MYO19_uc010wda.1_Missense_Mutation_p.E134K|MYO19_uc002hmx.2_Missense_Mutation_p.E268K NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 268 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAGCTCCTCTCTGGGTTGGGC 0.602 NaN 0 0 0 0.038147 0 8 34 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:37868208C>T uc002hso.2 + 8 1167 c.929C>T c.(928-930)TCC>TTC p.S310F ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 310 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(2)|p.S310Y(1) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.139131 0 101 153 WNK4 65266 broad.mit.edu 37 17 40939370 40939370 + Silent SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:40939370C>A uc002ibj.2 + 7 1572 c.1551C>A c.(1549-1551)ATC>ATA p.I517I WNK4_uc010wgx.1_Silent_p.I181I|WNK4_uc002ibk.1_Silent_p.I289I|WNK4_uc010wgy.1_5'UTR NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 517 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TTGCTGCCATCCAGCGAAAGC 0.617 NaN 1 0 6.04164e-23 0.045705 6.57189e-23 32 34 DDX42 11325 broad.mit.edu 37 17 61869830 61869830 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:61869830G>A uc002jbu.2 + 4 537 c.280G>A c.(280-282)GAA>AAA p.E94K DDX42_uc002jbv.2_Missense_Mutation_p.E94K|DDX42_uc002jbw.1_5'UTR NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 94 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 CATTCCTGCTGAAAACTCACC 0.418 NaN 0 0 0 0.139131 0 48 68 ABCA9 10350 broad.mit.edu 37 17 66979930 66979930 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:66979930C>T uc002jhu.2 - 36 4703 c.4560G>A c.(4558-4560)ATG>ATA p.M1520I ABCA9_uc010dez.2_Missense_Mutation_p.M1482I NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1520 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TCTTCAGCTTCATCTCCAGCA 0.468 NaN 0 0 0 0.055883 0 21 78 FBF1 85302 broad.mit.edu 37 17 73924184 73924184 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:73924184C>T uc002jqc.2 - 7 602 c.328G>A c.(328-330)GAG>AAG p.E110K FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E100K|FBF1_uc002jqd.1_Missense_Mutation_p.E110K NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 110 0 TTGGGCAGCTCTCCTTTCCCA 0.537 NaN 0 0 0 0.014758 0 5 38 TMC8 147138 broad.mit.edu 37 17 76134203 76134203 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:76134203C>G uc002jup.2 + 12 1849 c.1467C>G c.(1465-1467)CTC>CTG p.L489L TMC8_uc002juq.2_Silent_p.L266L|TMC8_uc010wtr.1_Missense_Mutation_p.L195V|TMC8_uc002jur.1_5'UTR NM_152468 NP_689681 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 489 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) GGATGGGCCTCTTCTACTGCC 0.612 NaN Epidermodysplasia_Verruciformis_Familial_Clustering_of 0 0 0 0.054565 0 34 61 SYNGR2 9144 broad.mit.edu 37 17 76167089 76167089 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:76167089C>T uc002juu.1 + 2 318 c.291C>T c.(289-291)AAC>AAT p.N97N SYNGR2_uc002jut.2_Silent_p.N97N|SYNGR2_uc002juv.1_Silent_p.N97N|SYNGR2_uc010dhi.1_Intron NM_004710 NP_004701 O43760 SNG2_HUMAN synaptogyrin 2 97 MARVEL. integral to plasma membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) AGATCAGCAACGCCACTGACC 0.582 NaN 0 0 0 0.146539 0 17 65 DNAH17 8632 broad.mit.edu 37 17 76445638 76445638 + Missense_Mutation SNP A A T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:76445638A>T uc010dhp.1 - 14 2291 c.2069T>A c.(2068-2070)ATC>AAC p.I690N DNAH17_uc002jvq.2_5'UTR|DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTCCTCTGGATGGCTTTCTC 0.617 NaN 0 0 0 0.009096 0 4 11 BAHCC1 57597 broad.mit.edu 37 17 79414364 79414364 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:79414364G>A uc002kaf.2 + 9 3466 c.3466G>A c.(3466-3468)GAA>AAA p.E1156K BAHCC1_uc002kae.2_Missense_Mutation_p.E386K NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 1156 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) GGGGCTACAAGAACTGCAATG 0.697 NaN 0 0 0 0.115264 0 3 10 ADCYAP1 116 broad.mit.edu 37 18 907685 907685 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:907685G>C uc010dkg.2 + 3 255 c.136G>C c.(136-138)GAC>CAC p.D46H ADCYAP1_uc010dkh.2_Missense_Mutation_p.D46H NM_001099733 NP_001093203 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 46 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding 0 GTACGGCGAGGACGGAAACCC 0.502 NaN 0 0 0 0.115264 0 2 5 SMCHD1 23347 broad.mit.edu 37 18 2732308 2732308 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:2732308C>G uc002klm.3 + 25 3283 c.3094C>G c.(3094-3096)CCC>GCC p.P1032A SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1032 chromosome organization ATP binding 0 TAAGTTGCTTCCCAGTAGCCA 0.383 NaN 0 0 0 0.064281 0 35 95 SMCHD1 23347 broad.mit.edu 37 18 2732428 2732428 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:2732428C>G uc002klm.3 + 25 3403 c.3214C>G c.(3214-3216)CAA>GAA p.Q1072E SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1072 chromosome organization ATP binding 0 TCTTATTTTTCAAATGTATGA 0.303 NaN 0 0 0 0.11911 0 13 36 VAPA 9218 broad.mit.edu 37 18 9914267 9914267 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:9914267C>T uc002kok.2 + 1 313 c.14C>T c.(13-15)TCA>TTA p.S5L VAPA_uc002koj.2_Missense_Mutation_p.S5L NM_194434 NP_919415 Q9P0L0 VAPA_HUMAN vesicle-associated membrane protein-associated 5 Cytoplasmic (Potential). cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity 0 GCGTCCGCCTCAGGGGCCATG 0.597 NaN 0 0 0 0.009096 0 4 17 CTAGE1 64693 broad.mit.edu 37 18 19995722 19995722 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:19995722C>T uc002ktv.1 - 1 2157 c.2053G>A c.(2053-2055)GGA>AGA p.G685R NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 685 Pro-rich. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AAAGGAGGTCCTCTTCTTATG 0.507 NaN 0 0 0 0.139131 0 73 122 LAMA3 3909 broad.mit.edu 37 18 21399954 21399954 + Nonsense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:21399954C>G uc002kuq.2 + 19 2383 c.2297C>G c.(2296-2298)TCA>TGA p.S766* LAMA3_uc002kur.2_Nonsense_Mutation_p.S766* NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 766 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAATGACCTCAGTACAGGTA 0.527 NaN 0 0 0 0.047766 0 9 67 MOCOS 55034 broad.mit.edu 37 18 33800081 33800081 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:33800081C>T uc002kzq.3 + 9 1884 c.1861C>T c.(1861-1863)CAC>TAC p.H621Y NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 621 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) GGTTGTGAATCACAATGGTGT 0.537 NaN 0 0 0 0.076483 0 23 30 ZNF236 7776 broad.mit.edu 37 18 74607060 74607060 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:74607060C>G uc002lmi.2 + 10 1701 c.1503C>G c.(1501-1503)ATC>ATG p.I501M ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 501 C2H2-type 10. 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) TCCGCCACATCCGCATCCACA 0.647 NaN 0 0 0 0.11126 0 42 55 DAZAP1 26528 broad.mit.edu 37 19 1434835 1434835 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:1434835G>C uc002lsn.2 + 12 1337 c.1148G>C c.(1147-1149)GGC>GCC p.G383A DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Missense_Mutation_p.G382A|DAZAP1_uc002lsl.1_Missense_Mutation_p.G382A NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 isoform b 383 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(1) 1 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) GGGTcggggggcccccccgcc 0.592 NaN 0 0 0 0.11911 0 6 8 ZFR2 23217 broad.mit.edu 37 19 3819086 3819086 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:3819086C>T uc002lyw.2 - 12 1900 c.1888G>A c.(1888-1890)GAG>AAG p.E630K NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 630 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) CGGTCCTCCTCGGCCAGTGTG 0.687 NaN 0 0 0 0.02938 0 5 21 ZBTB7A 51341 broad.mit.edu 37 19 4048230 4048230 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:4048230C>T uc002lzh.2 - 3 1350 c.1275G>A c.(1273-1275)CTG>CTA p.L425L ZBTB7A_uc002lzi.2_Silent_p.L425L NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 425 C2H2-type 2. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGCACCTTCAGCTTGTCCT 0.697 NaN 0 0 0 0.09319 0 11 21 ZBTB7A 51341 broad.mit.edu 37 19 4054074 4054074 + Missense_Mutation SNP A A T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:4054074A>T uc002lzh.2 - 2 1232 c.1157T>A c.(1156-1158)ATC>AAC p.I386N ZBTB7A_uc002lzi.2_Missense_Mutation_p.I386N NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 386 C2H2-type 1. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCTCGCAGATGGGGCACTT 0.637 NaN 0 0 0 0.045705 0 29 43 KIAA1543 57662 broad.mit.edu 37 19 7682676 7682676 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:7682676C>G uc002mgv.3 + 17 3584 c.3483C>G c.(3481-3483)CTC>CTG p.L1161L KIAA1543_uc002mgu.3_Silent_p.L1188L|KIAA1543_uc002mgw.2_Silent_p.L291L NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 1161 CKK. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 TCCTGATCCTCTTTCGCGACT 0.637 NaN 0 0 0 0.043863 0 19 40 MUC16 94025 broad.mit.edu 37 19 9015637 9015637 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:9015637C>G uc002mkp.2 - 29 38390 c.38186G>C c.(38185-38187)AGA>ACA p.R12729T MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12731 SEA 5.|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 CTGCAGGACTCTCTCTGTGGT 0.532 NaN 0 0 0 0.099896 0 26 150 MUC16 94025 broad.mit.edu 37 19 9076183 9076183 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:9076183G>C uc002mkp.2 - 3 11467 c.11263C>G c.(11263-11265)CAG>GAG p.Q3755E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3756 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 GTGGCCCCCTGAGGAGCTGAG 0.522 NaN 0 0 0 0.144211 0 30 138 TYK2 7297 broad.mit.edu 37 19 10488945 10488945 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:10488945G>A uc002moc.3 - 3 516 c.138C>T c.(136-138)TTC>TTT p.F46F TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.F46F NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 46 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) ATGACTCACTGAAAGTGACCC 0.622 NaN 0 0 0 0.134883 0 29 45 ILF3 3609 broad.mit.edu 37 19 10793282 10793282 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:10793282G>A uc002mpn.2 + 13 1767 c.1450G>A c.(1450-1452)GAG>AAG p.E484K ILF3_uc002mpm.2_Missense_Mutation_p.E484K|ILF3_uc002mpl.2_Missense_Mutation_p.E484K|ILF3_uc002mpk.2_Missense_Mutation_p.E484K|ILF3_uc010xli.1_Missense_Mutation_p.E82K|ILF3_uc002mpo.2_Missense_Mutation_p.E484K|ILF3_uc002mpp.2_Missense_Mutation_p.E305K NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 484 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GGACTCGGCTGAGGAGACCGA 0.647 NaN 0 0 0 0.058154 0 9 33 MAST1 22983 broad.mit.edu 37 19 12975882 12975882 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:12975882C>T uc002mvm.2 + 14 1656 c.1528C>T c.(1528-1530)CAC>TAC p.H510Y NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 510 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 CTCCATGGGTCACATCAAGCT 0.577 NaN 0 0 0 0.069234 0 9 82 CYP4F11 57834 broad.mit.edu 37 19 16038102 16038102 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:16038102G>A uc002nbu.2 - 5 481 c.445C>T c.(445-447)CGG>TGG p.R149W CYP4F11_uc010eab.1_Missense_Mutation_p.R149W|CYP4F11_uc002nbt.2_Missense_Mutation_p.R149W NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 149 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 GTCAACATCCGACGGTGGCGG 0.537 NaN 0 0 0 0.058154 0 10 131 ZNF714 148206 broad.mit.edu 37 19 21300143 21300143 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:21300143G>C uc002npo.3 + 6 1036 c.676G>C c.(676-678)GAG>CAG p.E226Q ZNF714_uc002npl.2_Missense_Mutation_p.E71Q|ZNF714_uc010ecp.1_Missense_Mutation_p.E177Q|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCATACTGGAGAGAAACCCTA 0.408 NaN 0 0 0 0.014758 0 5 68 RBM42 79171 broad.mit.edu 37 19 36128214 36128214 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:36128214G>A uc002oan.2 + 9 1366 c.1290G>A c.(1288-1290)AAG>AAA p.K430K RBM42_uc010eef.2_Silent_p.K376K|RBM42_uc002oao.2_Silent_p.K408K|RBM42_uc002oap.2_Silent_p.K400K|RBM42_uc002oaq.2_Silent_p.K401K|RBM42_uc010eeg.2_Intron NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 430 Necessary for interaction with HNRNPK (By similarity).|RRM. cytoplasm|nucleus nucleotide binding|RNA binding 0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCAGCTTCAAGGACCCCAGCG 0.647 NaN 0 0 0 0.139131 0 91 112 ZNF569 148266 broad.mit.edu 37 19 37916855 37916855 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:37916855G>A uc002ogi.2 - 5 711 c.153C>T c.(151-153)TTC>TTT p.F51F ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Silent_p.F75F NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGGTTTGGTGAACGGATAGC 0.443 NaN 0 0 0 0.139131 0 58 774 MEGF8 1954 broad.mit.edu 37 19 42873014 42873014 + Silent SNP G G A rs145990797 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:42873014G>A uc002otl.3 + 36 6935 c.6300G>A c.(6298-6300)CCG>CCA p.P2100P MEGF8_uc002otm.3_Silent_p.P1708P|MEGF8_uc002otn.3_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2167 Extracellular (Potential).|PSI 7. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GTGGGCGTCCGGGGGCCTCCT 0.642 NaN 0 0 0 0.139131 0 68 31 PSG6 5675 broad.mit.edu 37 19 43585239 43585239 + Missense_Mutation SNP A A T rs142667584 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:43585239A>T uc002ovi.2 - 2 317 c.224T>A c.(223-225)CTC>CAC p.L75H PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.L75H|PSG2_uc002ovq.3_Missense_Mutation_p.L75H|PSG2_uc010eiq.1_Missense_Mutation_p.L75H|PSG2_uc002ovs.3_Missense_Mutation_p.L75H|PSG2_uc002ovt.3_Missense_Mutation_p.L75H Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; 75 Ig-like V-type. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) GTAATGGTAGAGGTCCCTGAT 0.433 NaN 0 0 0 0.11126 0 33 346 XRCC1 7515 broad.mit.edu 37 19 44057007 44057007 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:44057007C>G uc002owt.2 - 8 885 c.765G>C c.(763-765)AAG>AAC p.K255N XRCC1_uc010xwp.1_Missense_Mutation_p.K224N NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 255 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) TGGGGGTCTTCTTTTCTTCTT 0.498 NaN Other_BER_factors 0 0 0 0.115264 0 3 43 NANOS2 339345 broad.mit.edu 37 19 46417599 46417599 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:46417599C>T uc002pdu.2 - 1 438 c.353G>A c.(352-354)GGT>GAT p.G118D NM_001029861 NP_001025032 P60321 NANO2_HUMAN nanos homolog 2 118 germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding 0 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) CTGCTGGCCACCGTTAAGCGG 0.672 NaN 0 0 0 0.055883 0 21 23 SAE1 10055 broad.mit.edu 37 19 47706939 47706939 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:47706939C>T uc002pgc.2 + 8 946 c.890C>T c.(889-891)TCC>TTC p.S297F SAE1_uc002pgd.2_Missense_Mutation_p.P249S|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.S123F|SAE1_uc002pge.2_Missense_Mutation_p.S233F NM_016402 NP_057486 Q9UBE0 SAE1_HUMAN SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA; 297 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity ovary(1) 1 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) TACTGCTTCTCCGAGATGGCC 0.463 NaN 0 0 0 0.139131 0 78 42 MEIS3 56917 broad.mit.edu 37 19 47910626 47910626 + Silent SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:47910626G>T uc002pgu.2 - 9 1365 c.918C>A c.(916-918)ATC>ATA p.I306I MEIS3_uc010xyp.1_RNA|MEIS3_uc002pgo.2_Silent_p.I105I|MEIS3_uc002pgp.2_Silent_p.I138I|MEIS3_uc002pgq.2_Silent_p.I387I|MEIS3_uc002pgr.2_Silent_p.I174I|MEIS3_uc002pgt.2_Silent_p.I289I|MEIS3_uc002pgv.2_Silent_p.I335I|MEIS3_uc002pgs.2_Silent_p.I352I|MEIS3_uc010eld.2_Silent_p.I352I NM_001009813 NP_001009813 Q99687 MEIS3_HUMAN Meis1, myeloid ecotropic viral integration site 306 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) TGACTTGCAGGATGGTGAGCC 0.597 NaN 1 0 3.95532e-38 0.139131 4.38408e-38 59 29 SCAF1 58506 broad.mit.edu 37 19 50154733 50154733 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:50154733C>T uc002poq.2 + 7 1211 c.1087C>T c.(1087-1089)CGG>TGG p.R363W NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 363 mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) AGAGGCTTGTCGGGAAGGCAA 0.721 NaN 0 0 0 0.021553 0 4 7 C19orf51 352909 broad.mit.edu 37 19 55676784 55676784 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:55676784C>T uc002qji.1 - 4 310 c.276G>A c.(274-276)CTG>CTA p.L92L C19orf51_uc002qjj.1_Silent_p.L139L|C19orf51_uc002qjk.1_Silent_p.L38L|C19orf51_uc002qjl.1_Silent_p.L160L Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 92 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GGCTGAAGATCAGCATGTGTC 0.547 NaN 0 0 0 0.139131 0 43 21 TMEM150B 284417 broad.mit.edu 37 19 55831502 55831502 + Missense_Mutation SNP G G A rs61737281 by1000genomes TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:55831502G>A uc010esw.1 - 6 402 c.229C>T c.(229-231)CTC>TTC p.L77F TMEM150B_uc010yfu.1_Missense_Mutation_p.L77F|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Missense_Mutation_p.L77F NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 77 Cytoplasmic (Potential). integral to membrane 0 CAGTCCCGGAGCTGGTGGTAA 0.612 NaN 0 0 0 0.021553 0 5 149 NLRP4 147945 broad.mit.edu 37 19 56392885 56392885 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:56392885G>C uc002qmd.3 + 10 3339 c.2917G>C c.(2917-2919)GAG>CAG p.E973Q NLRP4_uc002qmf.2_Missense_Mutation_p.E898Q|NLRP4_uc010etf.2_Missense_Mutation_p.E748Q NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 973 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TCTGACGGCTGAGGAAGAGAG 0.433 NaN 0 0 0 0.144211 0 32 21 PEG3 5178 broad.mit.edu 37 19 57327167 57327167 + Silent SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:57327167A>G uc002qnu.2 - 7 2994 c.2643T>C c.(2641-2643)CCT>CCC p.P881P ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.P852P|PEG3_uc002qnv.2_Silent_p.P881P|PEG3_uc002qnw.2_Silent_p.P757P|PEG3_uc002qnx.2_Silent_p.P755P|PEG3_uc010etr.2_Silent_p.P881P NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 881 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCCCTTCACAAGGGTTCTCTC 0.443 NaN 0 0 0 0.069288 0 24 110 ZNF587 84914 broad.mit.edu 37 19 58371262 58371262 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:58371262C>T uc002qql.2 + 3 1620 c.1482C>T c.(1480-1482)TGC>TGT p.C494C ZNF587_uc002qqb.2_Silent_p.C451C|ZNF587_uc010yhh.1_Silent_p.C451C|ZNF587_uc002qqi.1_Silent_p.C451C|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.C493C NM_032828 NP_116217 Q96SQ5 ZN587_HUMAN zinc finger protein 587 494 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 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;0.0264) CGTATGAATGCAGTGAATGTG 0.413 NaN 0 0 0 0.104719 0 42 230 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:58385762C>G uc002qqo.2 - 3 1268 c.996G>C c.(994-996)TCG>TCC p.S332S ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 C2H2-type 5. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 ATTTGCTAAACGATTTCCCAC 0.358 NaN 0 0 0 0.115264 0 2 12 ZFP36L2 678 broad.mit.edu 37 2 43452168 43452168 + Missense_Mutation SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:43452168T>C uc002rsv.3 - 2 1066 c.775A>G c.(775-777)AGC>GGC p.S259G LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 259 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CCCGAGAAGCTGAGGCTGTGG 0.682 NaN 0 0 0 0.038147 0 7 12 DUSP11 8446 broad.mit.edu 37 2 73993695 73993695 + Nonsense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:73993695G>C uc002sjp.2 - 8 827 c.785C>G c.(784-786)TCA>TGA p.S262* NM_003584 NP_003575 O75319 DUS11_HUMAN dual specificity phosphatase 11 215 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding skin(1) 1 AAAATCACTTGACCTGGGTAC 0.378 NaN 0 0 0 0.139131 0 74 43 SUCLG1 8802 broad.mit.edu 37 2 84670479 84670479 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:84670479C>T uc002son.2 - 3 440 c.247G>A c.(247-249)GTT>ATT p.V83I SUCLG1_uc010ysk.1_Missense_Mutation_p.V70I NM_003849 NP_003840 P53597 SUCA_HUMAN succinate-CoA ligase, GDP-forming alpha subunit 83 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity 0 Succinic acid(DB00139) GTTCCTCCAACGAGTTTGGTG 0.498 NaN 0 0 0 0.139131 0 47 29 AFF3 3899 broad.mit.edu 37 2 100209756 100209756 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:100209756C>G uc002tag.2 - 14 2603 c.2367G>C c.(2365-2367)TTG>TTC p.L789F AFF3_uc002taf.2_Missense_Mutation_p.L814F|AFF3_uc010fiq.1_Missense_Mutation_p.L789F|AFF3_uc010yvr.1_Missense_Mutation_p.L942F|AFF3_uc002tah.1_Missense_Mutation_p.L814F NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 789 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CAGGGGCGCTCAATACCCCTG 0.577 NaN 0 0 0 0.069288 0 22 40 SLC5A7 60482 broad.mit.edu 37 2 108626840 108626840 + Silent SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:108626840T>C uc002tdv.2 + 9 1542 c.1266T>C c.(1264-1266)CTT>CTC p.L422L SLC5A7_uc010ywm.1_Silent_p.L175L|SLC5A7_uc010fjj.2_Silent_p.L422L|SLC5A7_uc010ywn.1_Silent_p.L309L NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 422 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) CCCAGCTGCTTTGTGTACTCT 0.498 NaN 0 0 0 0.139131 0 53 45 IWS1 55677 broad.mit.edu 37 2 128253576 128253576 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:128253576C>G uc002ton.2 - 7 2017 c.1714G>C c.(1714-1716)GAG>CAG p.E572Q IWS1_uc010yzl.1_RNA NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 572 transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CAGCTCACCTCAGCAGCTTCA 0.468 NaN 0 0 0 0.139131 0 119 85 XIRP2 129446 broad.mit.edu 37 2 168100730 168100730 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:168100730G>C uc002udx.2 + 8 2846 c.2828G>C c.(2827-2829)GGA>GCA p.G943A XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G768A|XIRP2_uc010fpq.2_Missense_Mutation_p.G721A|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 768 Xin 12. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GTTGACAGAGGAGATGTGAAG 0.343 NaN 0 0 0 0.134883 0 32 36 MYO3B 140469 broad.mit.edu 37 2 171356164 171356164 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:171356164C>G uc002ufy.2 + 27 3278 c.3135C>G c.(3133-3135)CTC>CTG p.L1045L MYO3B_uc002ufv.2_Silent_p.L1032L|MYO3B_uc010fqb.1_Silent_p.L1032L|MYO3B_uc002ufz.2_Silent_p.L1045L|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_Intron NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 1045 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 AGGTTTTTCTCAAATATTACC 0.388 NaN 0 0 0 0.069234 0 9 60 INO80D 54891 broad.mit.edu 37 2 206869542 206869542 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:206869542C>T uc002vaz.3 - 11 3039 c.2634G>A c.(2632-2634)GTG>GTA p.V878V NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 CTCCAAGTGGCACCTCAAGTT 0.547 NaN 0 0 0 0.055883 0 21 35 INPP5D 3635 broad.mit.edu 37 2 234079249 234079249 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:234079249C>T uc010zmo.1 + 15 2052 c.1899C>T c.(1897-1899)TTC>TTT p.F633F INPP5D_uc010zmp.1_Silent_p.F632F NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 633 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TCCTACACTTCGGTAAGAGCA 0.323 NaN 0 0 0 0.132662 0 16 18 COL6A3 1293 broad.mit.edu 37 2 238277740 238277740 + Nonsense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:238277740G>A uc002vwl.2 - 10 4651 c.4366C>T c.(4366-4368)CGA>TGA p.R1456* COL6A3_uc002vwo.2_Nonsense_Mutation_p.R1250*|COL6A3_uc010znj.1_Nonsense_Mutation_p.R849* NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1456 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) ACAAAATCTCGAATATGTGCA 0.458 NaN 0 0 0 0.055883 0 21 15 RBCK1 10616 broad.mit.edu 37 20 390664 390664 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:390664C>T uc002wdp.3 + 2 855 c.162C>T c.(160-162)GAC>GAT p.D54D RBCK1_uc010zpl.1_Silent_p.D54D|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Intron|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Intron|RBCK1_uc002wdo.2_RNA NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 54 Interaction with IRF3.|Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) CAACGCAGGACATCAGGTGAG 0.517 NaN 0 0 0 0.076483 0 24 41 BFSP1 631 broad.mit.edu 37 20 17492687 17492687 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:17492687G>C uc002wpo.2 - 4 600 c.561C>G c.(559-561)ATC>ATG p.I187M BFSP1_uc002wpp.2_Missense_Mutation_p.I62M|BFSP1_uc010zrn.1_Missense_Mutation_p.I48M|BFSP1_uc010zro.1_Missense_Mutation_p.I48M NM_001195 NP_001186 Q12934 BFSP1_HUMAN filensin isoform 1 187 Rod.|Linker 12. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1) 1 GCAGGATGCTGATATAGGTCT 0.473 NaN 0 0 0 0.038395 0 17 62 TMEM90B 79953 broad.mit.edu 37 20 24524190 24524190 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:24524190G>A uc002wtw.1 + 2 1090 c.457G>A c.(457-459)GAG>AAG p.E153K NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 153 Poly-Glu.|Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 TGTGGAGGAGGAGGAGGAGTT 0.542 NaN 0 0 0 0.139131 0 44 114 KIAA1755 85449 broad.mit.edu 37 20 36870149 36870149 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:36870149G>C uc002xhy.1 - 3 656 c.384C>G c.(382-384)CTC>CTG p.L128L KIAA1755_uc002xhz.1_Silent_p.L128L NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 128 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) CCACTGTGCAGAGGTCCAGGG 0.537 NaN 0 0 0 0.11126 0 42 135 PPP1R16B 26051 broad.mit.edu 37 20 37547022 37547022 + Missense_Mutation SNP A A C rs61752055 byFrequency TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:37547022A>C uc002xje.2 + 11 1606 c.1417A>C c.(1417-1419)AAG>CAG p.K473Q PPP1R16B_uc010ggc.2_Missense_Mutation_p.K431Q NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 473 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding p.K473Q(1) upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) GAGCAGCTACAAGGAACAGAG 0.642 NaN 0 0 0 0.014758 0 5 122 SLC12A5 57468 broad.mit.edu 37 20 44676189 44676189 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:44676189C>G uc010zxl.1 + 15 2029 c.1953C>G c.(1951-1953)ATC>ATG p.I651M SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.I628M NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 651 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGGACTCATCTACAAGTACA 0.318 NaN 0 0 0 0.043863 0 18 156 SLC12A5 57468 broad.mit.edu 37 20 44676672 44676672 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:44676672C>G uc010zxl.1 + 16 2105 c.2029C>G c.(2029-2031)CGC>GGC p.R677G SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.R654G NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 677 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAGTGCGGCTCGCTATGCCCT 0.602 NaN 0 0 0 0.009096 0 4 17 CDH22 64405 broad.mit.edu 37 20 44806753 44806753 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:44806753C>T uc002xrm.2 - 10 2148 c.1747G>A c.(1747-1749)GAC>AAC p.D583N CDH22_uc010ghk.1_Missense_Mutation_p.D583N NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 583 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GGCCCACTGTCTACCACCAGG 0.632 NaN 0 0 0 0.021553 0 6 37 ZNF831 128611 broad.mit.edu 37 20 57767194 57767194 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:57767194G>A uc002yan.2 + 1 1120 c.1120G>A c.(1120-1122)GAG>AAG p.E374K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 374 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CGCCGAGTCCGAGGGGGAggg 0.527 NaN 0 0 0 0.02938 0 6 12 CDH4 1002 broad.mit.edu 37 20 60511869 60511869 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:60511869C>T uc002ybn.1 + 16 2633 c.2619C>T c.(2617-2619)AGC>AGT p.S873S CDH4_uc002ybp.1_Silent_p.S799S|uc002ybr.1_5'Flank NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 873 Ser-rich.|Cytoplasmic (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) ACGAGGGGAGCGGCTCCACCG 0.622 NaN 0 0 0 0.02938 0 7 48 EEF1A2 1917 broad.mit.edu 37 20 62121972 62121972 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:62121972C>T uc002yfd.1 - 5 990 c.889G>A c.(889-891)GAG>AAG p.E297K EEF1A2_uc002yfe.1_Missense_Mutation_p.E297K|EEF1A2_uc010gkg.1_Missense_Mutation_p.E297K NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 297 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CTCAGAGCCTCGTGGTGCATC 0.627 NaN 0 0 0 0.092188 0 38 104 GRIK1 2897 broad.mit.edu 37 21 31062135 31062135 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr21:31062135C>A uc002yno.1 - 3 921 c.457G>T c.(457-459)GAT>TAT p.D153Y GRIK1_uc002ynn.2_Missense_Mutation_p.D153Y|GRIK1_uc011acs.1_Missense_Mutation_p.D153Y|GRIK1_uc011act.1_Missense_Mutation_p.D97Y|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.D153Y NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 153 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GCTGCATAATCTGGGTAAAGG 0.473 NaN 1 0 3.90494e-43 0.139131 4.35183e-43 90 140 RUNX1 861 broad.mit.edu 37 21 36206817 36206817 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr21:36206817C>A uc002yuh.2 - 4 2192 c.614G>T c.(613-615)CGG>CTG p.R205L RUNX1_uc002yui.2_Intron|RUNX1_uc010gmu.2_Missense_Mutation_p.R232L|RUNX1_uc010gmv.2_Missense_Mutation_p.R232L|RUNX1_uc002yuj.3_Missense_Mutation_p.R100L|RUNX1_uc002yuk.3_Missense_Mutation_p.R232L|RUNX1_uc002yul.1_5'UTR|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Missense_Mutation_p.R232L|RUNX1_uc002yuo.1_Missense_Mutation_p.R205L NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 205 Pro/Ser/Thr-rich. Missing: No DNA-binding. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 GGCTGTGCGCCGCAGCTGCTC 0.597 NaN T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies 1 0 7.73544e-29 0.139131 8.50483e-29 59 45 DSCAM 1826 broad.mit.edu 37 21 41465774 41465774 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr21:41465774C>T uc002yyq.1 - 21 4176 c.3724G>A c.(3724-3726)GAC>AAC p.D1242N DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1242 Fibronectin type-III 4.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GAAAACGAGTCGGGAGAGGCC 0.478 NaN 0 0 0 0.069288 0 21 41 PCNT 5116 broad.mit.edu 37 21 47809235 47809235 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr21:47809235C>T uc002zji.3 + 19 3836 c.3729C>T c.(3727-3729)CTC>CTT p.L1243L PCNT_uc002zjj.2_Silent_p.L1125L NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 1243 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AAAGCTTTCTCATGAGCCCAG 0.577 NaN 0 0 0 0.059317 0 31 83 SUSD2 56241 broad.mit.edu 37 22 24579560 24579560 + Missense_Mutation SNP A A T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr22:24579560A>T uc002zzn.1 + 3 429 c.385A>T c.(385-387)ACT>TCT p.T129S NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 129 Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CATCCCCTTCACTGTGTCACT 0.642 NaN 0 0 0 0.139131 0 45 30 EMID1 129080 broad.mit.edu 37 22 29628275 29628275 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr22:29628275G>A uc003aen.2 + 8 776 c.701G>A c.(700-702)CGG>CAG p.R234Q EMID1_uc003aem.2_Missense_Mutation_p.R236Q|EMID1_uc003aeo.2_Missense_Mutation_p.R236Q|EMID1_uc003aep.2_Missense_Mutation_p.R236Q NM_133455 NP_597712 Q96A84 EMID1_HUMAN EMI domain containing 1 234 Collagen-like. collagen 0 AGCCCTGGCCGGGCTGGAGCT 0.701 NaN 0 0 0 0.134883 0 31 25 PLCL2 23228 broad.mit.edu 37 3 17051752 17051752 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:17051752C>T uc011awc.1 + 5 995 c.890C>T c.(889-891)ACG>ATG p.T297M PLCL2_uc010het.1_Intron|PLCL2_uc011awd.1_Missense_Mutation_p.T179M NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 305 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 GGTTTAAAAACGAGCAAAATT 0.348 NaN 0 0 0 0.125774 0 30 83 NKTR 4820 broad.mit.edu 37 3 42679721 42679721 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:42679721G>C uc003clo.2 + 13 2672 c.2525G>C c.(2524-2526)AGA>ACA p.R842T NKTR_uc003clm.1_Missense_Mutation_p.R589T|NKTR_uc003clp.2_Missense_Mutation_p.R589T|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R732T|NKTR_uc003clr.1_Missense_Mutation_p.R589T|NKTR_uc003cls.2_Missense_Mutation_p.R542T NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 842 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) GAAAAAAACAGAGGTGAAGAA 0.413 NaN 0 0 0 0.146539 0 14 50 BSN 8927 broad.mit.edu 37 3 49698687 49698687 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:49698687G>A uc003cxe.3 + 6 9523 c.9409G>A c.(9409-9411)GAT>AAT p.D3137N NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 3137 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGTCCCCGCTGATAGCCGTGC 0.622 NaN 0 0 0 0.038395 0 15 44 IP6K1 9807 broad.mit.edu 37 3 49770248 49770248 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:49770248C>T uc003cxm.1 - 4 907 c.592G>A c.(592-594)GAG>AAG p.E198K IP6K1_uc003cxn.1_Missense_Mutation_p.E33K|IP6K1_uc011bcv.1_Missense_Mutation_p.E33K|IP6K1_uc003cxo.2_Missense_Mutation_p.E198K NM_153273 NP_695005 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 isoform 1 198 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity 0 TCCTTGGACTCGGAGCGCATG 0.567 NaN 0 0 0 0.038395 0 18 44 ADAMTS9 56999 broad.mit.edu 37 3 64607948 64607948 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:64607948G>A uc003dmg.2 - 18 2644 c.2612C>T c.(2611-2613)CCA>CTA p.P871L ADAMTS9_uc011bfo.1_Missense_Mutation_p.P843L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P700L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.P871L NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 871 Spacer. 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) ATCTTCAATTGGAATATTGAA 0.438 NaN 0 0 0 0.038395 0 18 47 TOMM70A 9868 broad.mit.edu 37 3 100105732 100105732 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:100105732C>T uc003dtw.2 - 2 847 c.415G>A c.(415-417)GAG>AAG p.E139K NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 139 TPR 1.|Cytoplasmic (Potential). protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 CTAATAGCCTCAGTATAGCAC 0.383 NaN 0 0 0 0.069288 0 24 103 ARHGAP31 57514 broad.mit.edu 37 3 119134233 119134233 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:119134233G>C uc003ecj.3 + 12 3989 c.3457G>C c.(3457-3459)GAC>CAC p.D1153H NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1153 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 CTGTAAAGCAGACCCCTGGAG 0.537 NaN 0 0 0 0.105934 0 14 63 PLS1 5357 broad.mit.edu 37 3 142403175 142403175 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:142403175G>T uc010huv.2 + 8 985 c.826G>T c.(826-828)GTG>TTG p.V276L PLS1_uc003euz.2_Missense_Mutation_p.V276L|PLS1_uc003eva.2_Missense_Mutation_p.V276L NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 276 Actin-binding 1.|CH 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 GCTGCGATGGGTGAACTACCA 0.413 NaN 1 0 5.39261e-20 0.139131 5.83486e-20 56 53 MED12L 116931 broad.mit.edu 37 3 151112453 151112453 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:151112453G>C uc003eyp.2 + 37 5551 c.5513G>C c.(5512-5514)AGA>ACA p.R1838T MED12L_uc011bnz.1_Missense_Mutation_p.R1698T NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1838 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGTGGCTCCAGATTGGACCCT 0.463 NaN 0 0 0 0.11126 0 39 156 RTP2 344892 broad.mit.edu 37 3 187419823 187419823 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:187419823C>T uc003fro.1 - 1 523 c.94G>A c.(94-96)GAC>AAC p.D32N NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 32 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) AGGTTGGGGTCTATGATGAGC 0.577 NaN 0 0 0 0.092188 0 38 181 SENP5 205564 broad.mit.edu 37 3 196612107 196612107 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:196612107G>C uc003fwz.3 + 2 304 c.55G>C c.(55-57)GAG>CAG p.E19Q SENP5_uc011bty.1_Missense_Mutation_p.E19Q NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 19 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AGCCTTTTCTGAGAAATGGAA 0.383 NaN 0 0 0 0.076483 0 24 76 LIMCH1 22998 broad.mit.edu 37 4 41668680 41668680 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:41668680C>G uc003gvu.3 + 16 2293 c.2239C>G c.(2239-2241)CAA>GAA p.Q747E LIMCH1_uc003gvv.3_Missense_Mutation_p.Q747E|LIMCH1_uc003gvw.3_Missense_Mutation_p.Q747E|LIMCH1_uc003gvx.3_Missense_Mutation_p.Q735E|LIMCH1_uc003gwe.3_Intron|LIMCH1_uc003gvy.3_Missense_Mutation_p.Q576E|LIMCH1_uc003gwa.3_Missense_Mutation_p.Q588E|LIMCH1_uc003gvz.3_Missense_Mutation_p.Q1132E|LIMCH1_uc011byu.1_Missense_Mutation_p.Q581E|LIMCH1_uc003gwc.3_Missense_Mutation_p.Q593E|LIMCH1_uc003gwd.3_Missense_Mutation_p.Q581E|LIMCH1_uc011byv.1_Missense_Mutation_p.Q498E|LIMCH1_uc011byw.1_Missense_Mutation_p.Q47E NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 747 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 TCTCAATTCTCAAGGTAAAGA 0.393 NaN 0 0 0 0.058154 0 9 40 GABRG1 2565 broad.mit.edu 37 4 46099350 46099350 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:46099350C>T uc003gxb.2 - 2 273 c.121G>A c.(121-123)GAT>AAT p.D41N NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 41 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TCATCTTCATCATCTGCCTTA 0.328 NaN 0 0 0 0.139131 0 60 58 PRKG2 5593 broad.mit.edu 37 4 82126175 82126175 + Silent SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:82126175T>C uc003hmh.2 - 1 41 c.27A>G c.(25-27)AAA>AAG p.K9K PRKG2_uc011cch.1_Silent_p.K9K NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 9 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 GCTTAGAATGTTTAGGTTTCA 0.502 NaN 0 0 0 0.058154 0 10 40 UBE2D3 7323 broad.mit.edu 37 4 103730859 103730859 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:103730859C>A uc003hwk.2 - 4 551 c.90G>T c.(88-90)ATG>ATT p.M30I UBE2D3_uc003hwi.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Missense_Mutation_p.M30I|UBE2D3_uc011cet.1_Missense_Mutation_p.M30I|UBE2D3_uc011ceu.1_Missense_Mutation_p.M30I|UBE2D3_uc003hwo.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwp.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwq.2_Missense_Mutation_p.M32I|UBE2D3_uc003hwr.2_Missense_Mutation_p.M30I NM_181887 NP_871616 P61077 UB2D3_HUMAN ubiquitin-conjugating enzyme E2D 3 isoform 1 30 apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway endosome membrane|plasma membrane ATP binding|protein binding|ubiquitin-protein ligase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.13e-08) GCCAATGAAACACTAGAAAAA 0.284 NaN 1 0 0.000157383 0.038147 0.000160124 7 40 ANK2 287 broad.mit.edu 37 4 114251565 114251565 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:114251565G>A uc003ibe.3 + 27 3164 c.3064G>A c.(3064-3066)GAA>AAA p.E1022K ANK2_uc003ibd.3_Missense_Mutation_p.E1013K|ANK2_uc003ibf.3_Missense_Mutation_p.E1022K|ANK2_uc011cgc.1_Missense_Mutation_p.E231K|ANK2_uc003ibg.3_Missense_Mutation_p.E50K|ANK2_uc003ibc.2_Missense_Mutation_p.E998K|ANK2_uc011cgb.1_Missense_Mutation_p.E1037K NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCCAATGGTGGAAGGAGAAGG 0.537 NaN 0 0 0 0.09836 0 39 17 EDNRA 1909 broad.mit.edu 37 4 148406959 148406959 + Silent SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:148406959C>A uc003iky.2 + 2 818 c.126C>A c.(124-126)GGC>GGA p.G42G EDNRA_uc011cid.1_Intron|EDNRA_uc010ipe.1_Silent_p.G42G|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Silent_p.G42G NM_001957 NP_001948 P25101 EDNRA_HUMAN endothelin receptor type A isoform a precursor 42 Extracellular (Potential). activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|breast(1) 2 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CTTTTCGTGGCACAGAGCTCA 0.448 NaN 1 0 4.54149e-19 0.069288 4.90097e-19 24 123 KIAA0922 23240 broad.mit.edu 37 4 154544213 154544213 + Silent SNP C C T rs140734056 byFrequency TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:154544213C>T uc003inm.3 + 29 4072 c.4020C>T c.(4018-4020)GAC>GAT p.D1340D KIAA0922_uc010ipp.2_Silent_p.D1341D|KIAA0922_uc010ipq.2_Silent_p.D1109D NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1340 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CCATGGTGGACGCCCAGCACT 0.682 NaN 0 0 0 0.047766 0 8 57 EXOC3 11336 broad.mit.edu 37 5 464494 464494 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:464494C>T uc003jba.2 + 10 1871 c.1743C>T c.(1741-1743)AAC>AAT p.N581N NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 592 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) ACTATTTCAACGATTTTGCCA 0.443 NaN 0 0 0 0.049695 0 19 209 NDUFS6 4726 broad.mit.edu 37 5 1801637 1801637 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:1801637G>A uc003jcy.2 + 1 129 c.106G>A c.(106-108)GGG>AGG p.G36R MRPL36_uc003jcx.3_5'Flank NM_004553 NP_004544 O75380 NDUS6_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 6, 36 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1) 1 NADH(DB00157) CTCGCCGACCGGGGAGAAGGT 0.721 NaN 0 0 0 0.069234 0 11 9 ADCY2 108 broad.mit.edu 37 5 7520895 7520895 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:7520895G>A uc003jdz.1 + 3 520 c.453G>A c.(451-453)CTG>CTA p.L151L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 151 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 ACACCATGCTGCCCTTCAACA 0.522 NaN 0 0 0 0.045705 0 32 150 CDH10 1008 broad.mit.edu 37 5 24509787 24509787 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:24509787G>C uc003jgr.1 - 7 1476 c.1144C>G c.(1144-1146)CCT>GCT p.P382A CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 382 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CTAAAAACAGGAGGTTCATCC 0.393 NaN HNSCC(23;0.051) 0 0 0 0.0333 0 17 124 ADAMTS12 81792 broad.mit.edu 37 5 33614470 33614470 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:33614470C>G uc003jia.1 - 16 2563 c.2400G>C c.(2398-2400)CAG>CAC p.Q800H ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q715H NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 800 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGTTAGTCACCTGGAATAGAA 0.438 NaN HNSCC(64;0.19) 0 0 0 0.038147 0 6 90 CAPSL 133690 broad.mit.edu 37 5 35910153 35910153 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:35910153C>G uc003jjt.1 - 4 435 c.340G>C c.(340-342)GAG>CAG p.E114Q CAPSL_uc003jju.1_Missense_Mutation_p.E114Q NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 114 EF-hand 3. cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) ATGATTACCTCTTTTCTGGCT 0.353 NaN 0 0 0 0.139131 0 55 144 EGFLAM 133584 broad.mit.edu 37 5 38435313 38435313 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:38435313G>C uc003jlc.1 + 16 2565 c.2241G>C c.(2239-2241)AAG>AAC p.K747N EGFLAM_uc003jlb.1_Missense_Mutation_p.K747N|EGFLAM_uc003jle.1_Missense_Mutation_p.K513N|EGFLAM_uc003jlf.1_Missense_Mutation_p.K113N NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 747 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) ATGTGAAGAAGAACTCGGGTG 0.463 NaN 0 0 0 0.125774 0 30 113 ZNF131 7690 broad.mit.edu 37 5 43122240 43122240 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:43122240G>C uc011cpw.1 + 2 121 c.85G>C c.(85-87)GAG>CAG p.E29Q ZNF131_uc010ivl.1_Missense_Mutation_p.E29Q|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.E29Q|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_RNA|ZNF131_uc010ivm.1_RNA|ZNF131_uc003jnm.2_Missense_Mutation_p.E29Q NM_003432 NP_003423 P52739 ZN131_HUMAN zinc finger protein 131 29 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGAACAGCGAGAGCAGGACCG 0.517 NaN 0 0 0 0.139131 0 89 88 POLK 51426 broad.mit.edu 37 5 74877153 74877153 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:74877153G>A uc003kdw.2 + 7 910 c.814G>A c.(814-816)GAA>AAA p.E272K POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Missense_Mutation_p.E272K|POLK_uc003keb.2_Missense_Mutation_p.E272K|POLK_uc010izq.2_Missense_Mutation_p.E272K|POLK_uc003kec.2_Missense_Mutation_p.E182K|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.E182K|POLK_uc003kee.2_Missense_Mutation_p.E272K|POLK_uc003kef.2_Missense_Mutation_p.E182K NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 272 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) AGTGAACTTTGAAGAACAAAA 0.408 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.076483 0 24 38 POLK 51426 broad.mit.edu 37 5 74892196 74892196 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:74892196G>A uc003kdw.2 + 13 1774 c.1678G>A c.(1678-1680)GAA>AAA p.E560K POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.E362K|POLK_uc003kec.2_Missense_Mutation_p.E470K|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.E470K NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 560 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) AAAACCTCTAGAAATGTCTCA 0.358 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.083992 0 24 23 POC5 134359 broad.mit.edu 37 5 74970365 74970365 + Silent SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:74970365C>A uc003keh.3 - 12 1820 c.1623G>T c.(1621-1623)CGG>CGT p.R541R POC5_uc010izu.2_Silent_p.R365R|POC5_uc003keg.3_Silent_p.R516R NM_001099271 NP_001092741 Q8NA72 POC5_HUMAN proteome of centriole 5 isoform 1 541 cell cycle centriole lung(1) 1 GATGAATGGTCCGGGGATATT 0.398 NaN 1 0 8.92586e-32 0.139131 9.8667e-32 92 79 ACOT12 134526 broad.mit.edu 37 5 80640791 80640791 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:80640791G>A uc003khl.3 - 8 898 c.843C>T c.(841-843)ATC>ATT p.I281I RNU5E_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 281 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) AAGCACTGTTGATGTGACGCC 0.493 NaN 0 0 0 0.104719 0 44 46 UBE2B 7320 broad.mit.edu 37 5 133724024 133724024 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:133724024G>T uc003kzh.2 + 5 667 c.250G>T c.(250-252)GAT>TAT p.D84Y NM_003337 NP_003328 P63146 UBE2B_HUMAN ubiquitin-conjugating enzyme E2B 84 canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV cytoplasm|plasma membrane|replication fork ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity lung(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGTGTATGCTGATGGTAGCAT 0.348 NaN Direct_reversal_of_damage|Rad6_pathway 1 0 4.96729e-08 0.049695 5.18271e-08 20 44 PCDHAC2 56134 broad.mit.edu 37 5 140348520 140348520 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:140348520C>T uc003lii.2 + 1 2409 c.2169C>T c.(2167-2169)ATC>ATT p.I723I 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.I723I NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 723 Helical; (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) TTTTGACAATCATCATTTTGA 0.433 NaN 0 0 0 0.11911 0 14 85 PCDHAC2 56134 broad.mit.edu 37 5 140348753 140348753 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:140348753C>T uc003lii.2 + 1 2642 c.2402C>T c.(2401-2403)TCA>TTA p.S801L 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_Missense_Mutation_p.S801L NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 801 Cytoplasmic (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) ACAGCAGGCTCAGGGAGTGAC 0.552 NaN 0 0 0 0.116897 0 28 54 RBM22 55696 broad.mit.edu 37 5 150080509 150080509 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:150080509C>G uc003lst.2 - 1 161 c.39G>C c.(37-39)CAG>CAC p.Q13H NM_018047 NP_060517 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 13 protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding 0 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTCCCAGTTCTGCCTGTTGT 0.637 NaN OREG0016939 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.064281 0 33 31 MSX2 4488 broad.mit.edu 37 5 174156555 174156555 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:174156555C>T uc003mcy.2 + 2 861 c.773C>T c.(772-774)CCA>CTA p.P258L NM_002449 NP_002440 P35548 MSX2_HUMAN msh homeobox 2 258 cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TATGCCACGCCAGTGGGATAT 0.547 NaN 0 0 0 0.108266 0 27 58 SLC35B3 51000 broad.mit.edu 37 6 8417151 8417151 + Missense_Mutation SNP C C G rs145512512 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:8417151C>G uc010joe.2 - 9 1117 c.951G>C c.(949-951)TTG>TTC p.L317F SLC35B3_uc003mya.2_Missense_Mutation_p.L285F|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.L317F|SLC35B3_uc011did.1_Missense_Mutation_p.L317F|SLC35B3_uc003myd.2_RNA NM_001142541 NP_001136013 Q9H1N7 S35B3_HUMAN solute carrier family 35, member B3 317 Helical; (Potential). transmembrane transport Golgi membrane|integral to membrane 0 Ovarian(93;0.0569) AAATTTTAATCAAAGCCAGAA 0.348 NaN 0 0 0 0.139131 0 45 65 JARID2 3720 broad.mit.edu 37 6 15452374 15452374 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:15452374C>T uc003nbj.2 + 4 705 c.461C>T c.(460-462)ACA>ATA p.T154I JARID2_uc011diu.1_Intron|JARID2_uc011div.1_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.T116I NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 154 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) AAGCCTAAGACAGAAGATTTT 0.488 NaN 0 0 0 0.144211 0 31 74 SLC17A2 10246 broad.mit.edu 37 6 25918715 25918715 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:25918715C>T uc011dkb.1 - 5 732 c.649G>A c.(649-651)GGT>AGT p.G217S SLC17A2_uc011dkc.1_Missense_Mutation_p.G217S|SLC17A2_uc003nfl.2_Missense_Mutation_p.G217S O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 217 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 AGTGACTCACCAAAGATGTAG 0.443 NaN 0 0 0 0.069234 0 11 59 FLOT1 10211 broad.mit.edu 37 6 30698322 30698322 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:30698322G>C uc003nrm.2 - 11 1136 c.972C>G c.(970-972)GCC>GCG p.A324A FLOT1_uc011dmr.1_Silent_p.A276A NM_005803 NP_005794 O75955 FLOT1_HUMAN flotillin 1 324 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction 0 CTATGGCAAAGGCCTCAGCTT 0.567 NaN 0 0 0 0.0918 0 25 249 VARS2 57176 broad.mit.edu 37 6 30884992 30884992 + Silent SNP G G A rs59234326 by1000genomes TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:30884992G>A uc003nsc.1 + 8 1496 c.864G>A c.(862-864)TCG>TCA p.S288S VARS2_uc003nsd.2_Silent_p.S288S|VARS2_uc011dmx.1_Silent_p.S288S|VARS2_uc011dmy.1_Silent_p.S148S|VARS2_uc011dmz.1_Silent_p.S318S|VARS2_uc011dna.1_Silent_p.S288S|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank|VARS2_uc010jsg.1_5'Flank NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 288 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 CAGCCATCTCGGACATTGAGG 0.438 NaN 0 0 0 0.139131 0 105 119 VARS2 57176 broad.mit.edu 37 6 30889068 30889068 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:30889068G>C uc003nsc.1 + 16 2250 c.1618G>C c.(1618-1620)GAG>CAG p.E540Q VARS2_uc011dmx.1_Missense_Mutation_p.E540Q|VARS2_uc011dmy.1_Missense_Mutation_p.E400Q|VARS2_uc011dmz.1_Missense_Mutation_p.E570Q|VARS2_uc011dna.1_Missense_Mutation_p.E538Q|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR|VARS2_uc010jsh.1_5'Flank NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 540 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 CCTGGTTGTAGAGGACCATGC 0.612 NaN 0 0 0 0.0918 0 25 61 ATP6V1G2 534 broad.mit.edu 37 6 31513918 31513918 + Nonsense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:31513918G>A uc003nua.2 - 2 442 c.151C>T c.(151-153)CGA>TGA p.R51* BAT1_uc003ntv.2_5'UTR|ATP6V1G2_uc003ntz.2_Nonsense_Mutation_p.R10*|NFKBIL1_uc011dnr.1_5'Flank|NFKBIL1_uc011dns.1_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.2_5'Flank|NFKBIL1_uc003nub.2_5'Flank NM_130463 NP_569730 O95670 VATG2_HUMAN ATPase, H+ transporting, lysosomal, V1 subunit 51 cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding 0 TCGTGCTCTCGCTCTCTGCGG 0.582 NaN 0 0 0 0.139131 0 52 117 BAT2 7916 broad.mit.edu 37 6 31601375 31601375 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:31601375G>A uc003nvb.3 + 17 4788 c.4539G>A c.(4537-4539)AGG>AGA p.R1513R BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.R1513R NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1513 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 CCTCTCCTAGGCCCCCAACCC 0.612 NaN 0 0 0 0.09319 0 12 40 TULP1 7287 broad.mit.edu 37 6 35471368 35471368 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:35471368C>T uc003okv.3 - 13 1303 c.1291G>A c.(1291-1293)GAG>AAG p.E431K TULP1_uc003okw.3_Missense_Mutation_p.E378K NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 431 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 CTCTCGTTCTCCGCACTCATG 0.637 NaN 0 0 0 0.115264 0 2 5 CYP39A1 51302 broad.mit.edu 37 6 46620303 46620303 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:46620303G>T uc003oyf.1 - 1 221 c.17C>A c.(16-18)CCA>CAA p.P6Q CYP39A1_uc011dwa.1_Missense_Mutation_p.P6Q|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.1_5'Flank|SLC25A27_uc003oyg.2_5'Flank|SLC25A27_uc003oyh.2_5'Flank|SLC25A27_uc011dwc.1_5'Flank NM_016593 NP_057677 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, 6 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(1) 1 AATCACTGTTGGGGAAATTAG 0.483 NaN 1 0 5.42381e-49 0.139131 6.07763e-49 88 264 RNGTT 8732 broad.mit.edu 37 6 89388140 89388140 + Splice_Site SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:89388140T>C uc003pmr.2 - 14 1660 c.1440_splice c.e14-1 p.G480_splice RNGTT_uc003pms.2_Splice_Site_p.G457_splice|RNGTT_uc011dzu.1_Splice_Site_p.G397_splice|RNGTT_uc003pmt.2_Intron NM_003800 NP_003791 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 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) GGAAGTAACCTACAAAGAAAA 0.254 NaN 0 0 0 0.076483 0 22 31 ASCC3 10973 broad.mit.edu 37 6 101214503 101214503 + Missense_Mutation SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:101214503T>C uc003pqk.2 - 10 2004 c.1675A>G c.(1675-1677)ATC>GTC p.I559V ASCC3_uc011eai.1_Missense_Mutation_p.I461V|ASCC3_uc003pql.2_Missense_Mutation_p.I559V NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 559 Helicase ATP-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TTCACAATGATGCCTAGTGGC 0.383 NaN 0 0 0 0.09836 0 42 74 GRIK2 2898 broad.mit.edu 37 6 102483434 102483434 + Silent SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:102483434T>C uc003pqp.3 + 14 2553 c.2304T>C c.(2302-2304)ACT>ACC p.T768T GRIK2_uc003pqo.3_Silent_p.T768T|GRIK2_uc010kcw.2_Silent_p.T768T NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 768 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GCGTTGGCACTCCCATGGGTA 0.443 NaN 0 0 0 0.131918 0 47 134 PPIL4 85313 broad.mit.edu 37 6 149867087 149867087 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:149867087C>T uc003qmo.1 - 1 85 c.55G>A c.(55-57)GAA>AAA p.E19K PPIL4_uc010kic.2_RNA|PPIL4_uc003qmp.1_Missense_Mutation_p.E19K NM_139126 NP_624311 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase-like 4 19 PPIase cyclophilin-type. protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) GGCCGTTCTTCGGTGTACAAG 0.647 NaN 0 0 0 0.014758 0 5 9 SYNE1 23345 broad.mit.edu 37 6 152686043 152686043 + Nonsense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:152686043G>A uc010kiw.2 - 63 10686 c.10084C>T c.(10084-10086)CAG>TAG p.Q3362* SYNE1_uc003qot.3_Nonsense_Mutation_p.Q3369*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q3362*|SYNE1_uc010kja.1_Nonsense_Mutation_p.Q67* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3362 Spectrin 7.|HAT 6.|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) CTCTGCAGCTGCTGCTGAATA 0.458 NaN HNSCC(10;0.0054) 0 0 0 0.064281 0 37 93 MAD1L1 8379 broad.mit.edu 37 7 2188842 2188842 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:2188842C>G uc003slh.1 - 11 1284 c.1018G>C c.(1018-1020)GAG>CAG p.E340Q MAD1L1_uc003sle.1_Missense_Mutation_p.E69Q|MAD1L1_uc003slf.1_Missense_Mutation_p.E340Q|MAD1L1_uc003slg.1_Missense_Mutation_p.E340Q|MAD1L1_uc010ksh.1_Missense_Mutation_p.E340Q|MAD1L1_uc003sli.1_Missense_Mutation_p.E248Q|MAD1L1_uc010ksi.1_Missense_Mutation_p.E293Q|MAD1L1_uc010ksj.2_Missense_Mutation_p.E340Q NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 340 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TGCTGCAGCTCAACCACGAAT 0.547 NaN 0 0 0 0.09319 0 12 34 ANLN 54443 broad.mit.edu 37 7 36438775 36438775 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:36438775C>T uc003tff.2 + 3 464 c.260C>T c.(259-261)CCA>CTA p.P87L ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Missense_Mutation_p.P87L|ANLN_uc010kxe.2_Missense_Mutation_p.P87L NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 87 Nuclear localization.|Interaction with CD2AP. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 AATAAACAACCAGTTGAGTCG 0.418 NaN 0 0 0 0.105934 0 14 51 POLD2 5425 broad.mit.edu 37 7 44156568 44156568 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:44156568C>T uc010kxz.2 - 7 1278 c.628G>A c.(628-630)GAG>AAG p.E210K POLD2_uc003tke.3_Missense_Mutation_p.E210K|POLD2_uc010kya.2_Missense_Mutation_p.E210K|POLD2_uc003tkf.3_Missense_Mutation_p.E210K NM_006230 NP_006221 P49005 DPOD2_HUMAN DNA-directed DNA polymerase delta 2 210 base-excision repair|DNA strand elongation involved in DNA replication|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 DNA binding|DNA-directed DNA polymerase activity|protein binding ovary(2) 2 AGCAGGCTCTCGCCTCCACCG 0.692 NaN 0 0 0 0.09319 0 12 20 TYW1 55253 broad.mit.edu 37 7 66463173 66463173 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:66463173C>G uc003tvn.2 + 2 275 c.126C>G c.(124-126)ATC>ATG p.I42M SBDS_uc003tvm.1_5'Flank|TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 42 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) AGATTGTCATCAAGACGCAGG 0.318 NaN 0 0 0 0.092188 0 39 118 BAZ1B 9031 broad.mit.edu 37 7 72892759 72892759 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:72892759C>T uc003tyc.2 - 7 1377 c.1032G>A c.(1030-1032)AAG>AAA p.K344K NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 344 Mediates the tyrosine-protein kinase activity.|Lys-rich. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) CACTCAATGACTTCTTCAAGT 0.423 NaN 0 0 0 0.059317 0 30 78 SEMA3C 10512 broad.mit.edu 37 7 80418743 80418743 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:80418743G>C uc003uhj.2 - 12 1795 c.1233C>G c.(1231-1233)ATC>ATG p.I411M SEMA3C_uc011kgw.1_Missense_Mutation_p.I429M NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 411 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 GGATTGGGTAGATGGAATTGT 0.453 NaN 0 0 0 0.139131 0 47 56 BAIAP2L1 55971 broad.mit.edu 37 7 97944889 97944889 + Silent SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:97944889G>T uc003upj.2 - 7 785 c.522C>A c.(520-522)ATC>ATA p.I174I NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 174 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TGAATTTCTGGATTTCACTCT 0.383 NaN 1 0 2.20262e-25 0.054565 2.40875e-25 35 119 SMURF1 57154 broad.mit.edu 37 7 98645380 98645380 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:98645380C>A uc003upu.1 - 11 1477 c.1157G>T c.(1156-1158)AGA>ATA p.R386I SMURF1_uc003upv.1_Missense_Mutation_p.R360I|SMURF1_uc003upt.2_Missense_Mutation_p.R360I NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 386 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) CAGTTCGTGTCTGAGGACTTT 0.562 NaN 1 0 1.77791e-30 0.139131 1.96002e-30 70 264 SMURF1 57154 broad.mit.edu 37 7 98645441 98645441 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:98645441C>A uc003upu.1 - 11 1416 c.1096G>T c.(1096-1098)GAC>TAC p.D366Y SMURF1_uc003upv.1_Missense_Mutation_p.D340Y|SMURF1_uc003upt.2_Missense_Mutation_p.D340Y NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 366 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) AGCTCCTCGTCCTCCAGAGAG 0.562 NaN 1 0 1.52378e-38 0.139131 1.69355e-38 69 290 ZKSCAN1 7586 broad.mit.edu 37 7 99621898 99621898 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:99621898C>T uc003usk.1 + 3 767 c.548C>T c.(547-549)TCG>TTG p.S183L ZKSCAN1_uc003usj.2_Missense_Mutation_p.S182L|ZKSCAN1_uc003usl.1_Missense_Mutation_p.S147L|ZKSCAN1_uc003usm.1_Intron NM_003439 NP_003430 P17029 ZKSC1_HUMAN zinc finger protein 36 183 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TTCAAACATTCGTCTCGGAAA 0.532 NaN 0 0 0 0.038395 0 17 57 ACHE 43 broad.mit.edu 37 7 100491073 100491073 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:100491073C>T uc003uxd.2 - 1 937 c.781G>A c.(781-783)GGT>AGT p.G261S ACHE_uc003uxe.2_Missense_Mutation_p.G261S|ACHE_uc003uxf.2_Missense_Mutation_p.G261S|ACHE_uc003uxg.2_Missense_Mutation_p.G261S|ACHE_uc003uxh.2_Missense_Mutation_p.G261S|ACHE_uc003uxi.2_Missense_Mutation_p.G261S|ACHE_uc003uxj.1_Missense_Mutation_p.G380S NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 261 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) TTGGGGGCACCGCTCTGCAGC 0.726 NaN 0 0 0 0.105934 0 14 51 GPR22 2845 broad.mit.edu 37 7 107114751 107114751 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:107114751G>T uc003vef.2 + 3 1592 c.246G>T c.(244-246)ATG>ATT p.M82I COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron NM_005295 NP_005286 Q99680 GPR22_HUMAN G protein-coupled receptor 22 82 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 TTATTACAATGAATCTTCATG 0.363 NaN 1 0 5.22555e-25 0.139131 5.69934e-25 58 94 ST7 7982 broad.mit.edu 37 7 116869839 116869839 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:116869839C>G uc011knn.1 + 14 1371 c.1366C>G c.(1366-1368)CTT>GTT p.L456V ST7_uc003vio.2_Silent_p.P531P|ST7_uc003viq.2_Silent_p.P508P|ST7_uc011knm.1_Silent_p.P511P|ST7_uc003vir.2_Silent_p.P474P NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TGTTTGCCCCCTTAAACTTTG 0.498 NaN 0 0 0 0.139131 0 89 448 IMPDH1 3614 broad.mit.edu 37 7 128038653 128038653 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:128038653C>T uc011kol.1 - 7 740 c.634G>A c.(634-636)GTC>ATC p.V212I IMPDH1_uc011kom.1_Missense_Mutation_p.V207I|IMPDH1_uc003vmt.2_Missense_Mutation_p.V187I|IMPDH1_uc003vmu.2_Missense_Mutation_p.V297I|IMPDH1_uc003vmw.2_Missense_Mutation_p.V287I|IMPDH1_uc011kon.1_Missense_Mutation_p.V264I|IMPDH1_uc003vmv.2_Missense_Mutation_p.V261I|IMPDH1_uc003vmx.2_Missense_Mutation_p.V220I|IMPDH1_uc003vmy.2_Missense_Mutation_p.V228I NM_001142573 NP_001136045 P20839 IMDH1_HUMAN inosine monophosphate dehydrogenase 1 isoform e 212 CBS 2. GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding skin(2)|lung(1)|central_nervous_system(1) 4 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CAATCATTGACGATAGGCAGC 0.542 NaN OREG0018292 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.069234 0 11 158 TMEM139 135932 broad.mit.edu 37 7 142983872 142983872 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:142983872C>T uc010lov.2 + 4 740 c.601C>T c.(601-603)CAC>TAC p.H201Y CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|CASP2_uc003wcq.2_5'Flank|TMEM139_uc003wck.3_Missense_Mutation_p.H201Y|TMEM139_uc003wcl.2_Missense_Mutation_p.H201Y|TMEM139_uc003wcm.2_Missense_Mutation_p.H201Y|TMEM139_uc003wcn.2_RNA NM_153345 NP_699176 Q8IV31 TM139_HUMAN transmembrane protein 139 precursor 201 Cytoplasmic (Potential). integral to membrane 0 Melanoma(164;0.059) CTGCTTTGGTCACCCTGATGA 0.502 NaN 0 0 0 0.139131 0 70 67 FAM115A 9747 broad.mit.edu 37 7 143573631 143573631 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:143573631G>A uc003wdo.1 - 2 204 c.71C>T c.(70-72)GCT>GTT p.A24V FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.A24V NM_014719 NP_055534 Q9Y4C2 F115A_HUMAN hypothetical protein LOC9747 24 0 Melanoma(164;0.0903) ACATGGAACAGCATCTTCGGG 0.527 NaN 0 0 0 0.009096 0 4 60 BLK 640 broad.mit.edu 37 8 11405588 11405588 + Silent SNP C C A rs149393791 byFrequency TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:11405588C>A uc003wty.2 + 4 804 c.223C>A c.(223-225)CGG>AGG p.R75R BLK_uc003wtz.2_Silent_p.R4R NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 75 SH3. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) TATGAATGATCGGGACCTGCA 0.567 NaN 1 0 5.26018e-13 0.062417 5.63197e-13 21 33 WRN 7486 broad.mit.edu 37 8 30933803 30933803 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:30933803G>A uc003xio.3 + 8 1627 c.839G>A c.(838-840)AGG>AAG p.R280K NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 280 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AACCCACGGAGGTTAAATATT 0.328 NaN Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 0 0 0 0.099896 0 28 30 KCNU1 157855 broad.mit.edu 37 8 36644853 36644853 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:36644853G>A uc010lvw.2 + 2 312 c.225G>A c.(223-225)AGG>AGA p.R75R KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 75 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCATCGCTAGGAGCCATGTAA 0.428 NaN 0 0 0 0.038147 0 8 17 TACC1 6867 broad.mit.edu 37 8 38677879 38677879 + Nonsense_Mutation SNP C C T rs149014810 by1000genomes TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:38677879C>T uc010lwp.2 + 3 1496 c.1117C>T c.(1117-1119)CGA>TGA p.R373* TACC1_uc011lby.1_Nonsense_Mutation_p.R178*|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Nonsense_Mutation_p.R178*|TACC1_uc003xmc.3_Nonsense_Mutation_p.R178*|TACC1_uc011lbz.1_Nonsense_Mutation_p.R389*|TACC1_uc003xmb.3_Nonsense_Mutation_p.R328*|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Nonsense_Mutation_p.R373*|TACC1_uc011lcb.1_Nonsense_Mutation_p.R178*|TACC1_uc011lcc.1_Nonsense_Mutation_p.R178*|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Nonsense_Mutation_p.R178*|TACC1_uc010lwq.2_Nonsense_Mutation_p.R178* NM_006283 NP_006274 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing 373 Interaction with YEATS4.|SPAZ 2. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding ovary(1) 1 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) CCCAGTGGCACGAGACGGGCC 0.527 NaN 0 0 0 0.050027 0 32 205 PRKDC 5591 broad.mit.edu 37 8 48740729 48740729 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:48740729C>T uc003xqi.2 - 63 8634 c.8577G>A c.(8575-8577)CAG>CAA p.Q2859Q PRKDC_uc003xqj.2_Silent_p.Q2859Q|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2859 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CAGACTTTACCTGAATACAAG 0.383 NaN NHEJ 0 0 0 0.132662 0 16 11 EFCAB1 79645 broad.mit.edu 37 8 49637345 49637345 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:49637345C>T uc003xqo.2 - 6 752 c.592G>A c.(592-594)GAA>AAA p.E198K EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.E146K|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA NM_024593 NP_078869 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 isoform a 198 calcium ion binding 0 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) ACTTGAGCTTCAAATTCCATC 0.313 NaN 0 0 0 0.083992 0 24 14 NSMAF 8439 broad.mit.edu 37 8 59506850 59506850 + Splice_Site SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:59506850C>G uc003xtt.2 - 23 2107 c.1893_splice c.e23-1 p.E631_splice NSMAF_uc011lee.1_Splice_Site_p.E662_splice NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 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) AGTAACTGCTCTGCTCAAAAA 0.388 NaN 0 0 0 0.009096 0 4 43 C8orf34 116328 broad.mit.edu 37 8 69358639 69358639 + Nonsense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:69358639C>G uc010lyz.2 + 3 342 c.293C>G c.(292-294)TCA>TGA p.S98* C8orf34_uc010lyx.1_Nonsense_Mutation_p.S98*|C8orf34_uc010lyy.1_Nonsense_Mutation_p.S98*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.S73* NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 98 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CCTAAAAAATCAAAAAGTGAC 0.328 NaN 0 0 0 0.02938 0 6 77 ZFHX4 79776 broad.mit.edu 37 8 77764196 77764196 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:77764196C>G uc003yav.2 + 10 5291 c.4904C>G c.(4903-4905)TCT>TGT p.S1635C ZFHX4_uc003yau.1_Missense_Mutation_p.S1680C|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1635C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1635 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) GATTTAATCTCTGCTCAACCT 0.418 NaN HNSCC(33;0.089) 0 0 0 0.139131 0 54 31 FBXO43 286151 broad.mit.edu 37 8 101154324 101154324 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:101154324G>A uc003yjd.2 - 2 871 c.158C>T c.(157-159)TCT>TTT p.S53F FBXO43_uc003yje.2_Missense_Mutation_p.S19F|FBXO43_uc010mbp.1_Missense_Mutation_p.S53F NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 53 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) AATTGGAGGAGAGTCCGCCCC 0.423 NaN 0 0 0 0.139131 0 95 39 TAF2 6873 broad.mit.edu 37 8 120770342 120770342 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:120770342C>T uc003you.2 - 21 3009 c.2739G>A c.(2737-2739)ATG>ATA p.M913I NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 913 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CATTCTGAATCATATTAAGTA 0.284 NaN 0 0 0 0.043863 0 17 155 ATAD2 29028 broad.mit.edu 37 8 124371897 124371897 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:124371897C>T uc003yqh.3 - 10 1294 c.1186G>A c.(1186-1188)GAA>AAA p.E396K ATAD2_uc011lii.1_Missense_Mutation_p.E187K|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E396K NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CCTTTTAATTCATCTTTCCGA 0.358 NaN 0 0 0 0.021553 0 6 67 FAM135B 51059 broad.mit.edu 37 8 139380157 139380157 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:139380157G>C uc003yuy.2 - 2 241 c.70C>G c.(70-72)CAG>GAG p.Q24E FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 24 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) TACCCTCTCTGAAAGAGATCC 0.328 NaN HNSCC(54;0.14) 0 0 0 0.139131 0 57 34 MAPK15 225689 broad.mit.edu 37 8 144803252 144803252 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:144803252G>C uc003yzj.2 + 10 1041 c.1000G>C c.(1000-1002)GAG>CAG p.E334Q NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 334 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 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) CTCTGTGCCTGAGTACCGCAG 0.652 NaN 0 0 0 0.014758 0 4 27 MPDZ 8777 broad.mit.edu 37 9 13119644 13119644 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:13119644C>T uc010mia.1 - 38 5293 c.5236G>A c.(5236-5238)GAT>AAT p.D1746N MPDZ_uc003zkx.3_Missense_Mutation_p.D11N|MPDZ_uc003zky.3_Missense_Mutation_p.D280N|MPDZ_uc010mib.2_Missense_Mutation_p.D451N|MPDZ_uc010mhx.2_Missense_Mutation_p.D568N|MPDZ_uc011lmm.1_Missense_Mutation_p.D605N|MPDZ_uc003zkz.3_Missense_Mutation_p.D439N|MPDZ_uc010mhy.2_Missense_Mutation_p.D1746N|MPDZ_uc010mhz.2_Missense_Mutation_p.D1713N|MPDZ_uc011lmn.1_Missense_Mutation_p.D1713N|MPDZ_uc003zlb.3_Missense_Mutation_p.D1746N NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1746 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) ACTCCAGTATCGTTTCTACAC 0.348 NaN 0 0 0 0.047766 0 9 58 PIGO 84720 broad.mit.edu 37 9 35094274 35094274 + Silent SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:35094274G>T uc003zwd.2 - 3 990 c.594C>A c.(592-594)TCC>TCA p.S198S PIGO_uc003zwc.1_Silent_p.S198S|PIGO_uc003zwe.2_Silent_p.S198S|PIGO_uc003zwf.2_Silent_p.S198S|PIGO_uc003zwg.1_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 198 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGACATTGAAGGATGGGAAGA 0.502 NaN 1 0 6.44725e-10 0.069288 6.81376e-10 12 32 PIGO 84720 broad.mit.edu 37 9 35094283 35094283 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:35094283G>T uc003zwd.2 - 3 981 c.585C>A c.(583-585)TTC>TTA p.F195L PIGO_uc003zwc.1_Missense_Mutation_p.F195L|PIGO_uc003zwe.2_Missense_Mutation_p.F195L|PIGO_uc003zwf.2_Missense_Mutation_p.F195L|PIGO_uc003zwg.1_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 195 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGGATGGGAAGAAGAAAGCTT 0.498 NaN 1 0 4.35082e-09 0.055883 4.56278e-09 10 30 PIGO 84720 broad.mit.edu 37 9 35094310 35094310 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:35094310G>A uc003zwd.2 - 3 954 c.558C>T c.(556-558)TTC>TTT p.F186F PIGO_uc003zwc.1_Silent_p.F186F|PIGO_uc003zwe.2_Silent_p.F186F|PIGO_uc003zwf.2_Silent_p.F186F|PIGO_uc003zwg.1_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 186 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AAGCACCAGGGAAAAGGTCTT 0.502 NaN 0 0 0 0.144211 0 20 31 CREB3 10488 broad.mit.edu 37 9 35735135 35735135 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:35735135G>C uc003zxv.2 + 5 918 c.465G>C c.(463-465)CGG>CGC p.R155R TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.3_5'Flank|CREB3_uc010mla.2_Silent_p.R74R NM_006368 NP_006359 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 179 Cytoplasmic (Potential).|Basic motif. chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity 0 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) AACGTGTGCGGAGGAAGATTC 0.348 NaN 0 0 0 0.134883 0 30 28 RASEF 158158 broad.mit.edu 37 9 85613323 85613323 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:85613323C>G uc004amo.1 - 13 2023 c.1762G>C c.(1762-1764)GAA>CAA p.E588Q NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 588 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 ACTGTTCGTTCTCCATCCACA 0.453 NaN 0 0 0 0.139131 0 179 84 FOXE1 2304 broad.mit.edu 37 9 100617151 100617151 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:100617151G>C uc004axu.2 + 1 1615 c.955G>C c.(955-957)GAG>CAG p.E319Q NM_004473 NP_004464 O00358 FOXE1_HUMAN forkhead box E1 319 cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Acute lymphoblastic leukemia(62;0.158) TGGCGGCGTGGAGACCACGGT 0.751 NaN 0 0 0 0.069234 0 8 3 C9orf156 51531 broad.mit.edu 37 9 100667150 100667150 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:100667150G>C uc004axv.1 - 5 1268 c.1191C>G c.(1189-1191)TTC>TTG p.F397L C9orf156_uc004axw.1_Missense_Mutation_p.F294L|C9orf156_uc004axx.1_Missense_Mutation_p.F251L NM_016481 NP_057565 Q9BU70 NAP1_HUMAN Nef associated protein 1 397 interspecies interaction between organisms hydrolase activity 0 Acute lymphoblastic leukemia(62;0.158) CAGTAAAGTAGAAAAGGCGGT 0.527 NaN 0 0 0 0.139131 0 72 76 OR13C8 138802 broad.mit.edu 37 9 107332253 107332253 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:107332253G>A uc011lvo.1 + 1 805 c.805G>A c.(805-807)GAT>AAT p.D269N NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AGCCTCTGTTGATTCAGGTAA 0.453 NaN 0 0 0 0.086207 0 39 85 EXD3 54932 broad.mit.edu 37 9 140250821 140250821 + Splice_Site SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:140250821C>G uc004cmp.2 - 8 853 c.657_splice c.e8-1 p.R219_splice C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Splice_Site|EXD3_uc004cmq.1_Splice_Site|EXD3_uc010ncg.1_Splice_Site_p.R158_splice NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 AGGGTACCGTCTGTGGGGAGA 0.438 NaN 0 0 0 0.021553 0 6 8 NYX 60506 broad.mit.edu 37 X 41333009 41333009 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:41333009C>G uc004dfh.2 + 2 733 c.303C>G c.(301-303)ATC>ATG p.I101M NYX_uc011mku.1_Missense_Mutation_p.I96M NM_022567 NP_072089 Q9GZU5 NYX_HUMAN nyctalopin precursor 101 LRR 2. Missing (in CSNB1A). response to stimulus|visual perception intracellular|proteinaceous extracellular matrix lung(2) 2 TGTCCTTCATCACGCCCGGCG 0.716 NaN 0 0 0 0.115264 0 2 6 CHST7 56548 broad.mit.edu 37 X 46433799 46433799 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:46433799G>A uc004dgt.2 + 1 608 c.433G>A c.(433-435)GAC>AAC p.D145N NM_019886 NP_063939 Q9NS84 CHST7_HUMAN chondroitin 6-sulfotransferase 7 145 Lumenal (Potential). chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity breast(3) 3 GTATCCGGGCGACGCCGAGAG 0.557 NaN 0 0 0 0.064281 0 33 16 GNL3L 54552 broad.mit.edu 37 X 54578731 54578731 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:54578731G>C uc004dth.1 + 13 1327 c.1188G>C c.(1186-1188)AAG>AAC p.K396N GNL3L_uc004dti.2_RNA NM_019067 NP_061940 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 396 ribosome biogenesis nucleolus GTP binding ovary(1) 1 GCAGCGGGAAGATCAGCTTCT 0.502 NaN 0 0 0 0.038395 0 18 55 UPRT 139596 broad.mit.edu 37 X 74494400 74494400 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:74494400G>A uc004ecb.1 + 1 440 c.311G>A c.(310-312)CGG>CAG p.R104Q UPRT_uc010nlu.1_Missense_Mutation_p.R104Q|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.R104Q|UPRT_uc004ece.1_5'Flank NM_145052 NP_659489 Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog 104 nucleoside metabolic process cytoplasm|nucleus 0 GAACTCTCCCGGCAGATCGGG 0.562 NaN 0 0 0 0.009096 0 4 7 C1GALT1C1 29071 broad.mit.edu 37 X 119760538 119760538 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:119760538C>T uc004esy.2 - 3 831 c.484G>A c.(484-486)GAT>AAT p.D162N C1GALT1C1_uc004esz.2_Missense_Mutation_p.D162N NM_152692 NP_689905 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 162 Lumenal (Potential). integral to membrane 0 TGTGATGGATCCTTTTTTAAC 0.383 NaN 0 0 0 0.116897 0 27 46 MAGEC2 51438 broad.mit.edu 37 X 141291225 141291225 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:141291225C>G uc004fbu.1 - 3 897 c.549G>C c.(547-549)AAG>AAC p.K183N NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 183 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CACGGGCTCTCTTGAGTATCA 0.483 NaN HNSCC(46;0.14) 0 0 0 0.139131 0 112 73 TMLHE 55217 broad.mit.edu 37 X 154736681 154736681 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:154736681G>A uc004fnn.2 - 6 1039 c.873C>T c.(871-873)CTC>CTT p.L291L TMLHE_uc004fno.2_Silent_p.L291L|TMLHE_uc004fnp.3_Silent_p.L291L NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 291 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) CTTTACTGAGGAGTTCAAATT 0.418 NaN 0 0 0 0.139131 0 90 48 IQGAP3 128239 broad.mit.edu 37 1 156530742 156530743 + Frame_Shift_Ins INS - - C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:156530742_156530743insC uc001fpf.2 - 11 1187_1188 c.1112_1113insG c.(1111-1113)GGTfs p.G371fs IQGAP3_uc009wsb.1_Frame_Shift_Ins_p.G328fs NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 371 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTTCCTGATCACCCTTTGTGTT 0.525 NaN NaN NaN NaN NaN NaN 7 113 --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:125528165_125528167delCAG uc001lhk.1 - 9 1499_1501 c.1174_1176delCTG c.(1174-1176)CTGdel p.L392del CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 NaN NaN NaN NaN NaN NaN 7 154 --- --- PCNXL3 399909 broad.mit.edu 37 11 65393419 65393421 + In_Frame_Del DEL CTT CTT - TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:65393419_65393421delCTT uc001oey.2 + 20 3273_3275 c.3273_3275delCTT c.(3271-3276)GGCTTC>GGC p.F1093del PCNXL3_uc009yqn.2_In_Frame_Del_p.F53del|PCNXL3_uc001oez.2_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1093 Helical; (Potential). integral to membrane 0 GGGCCGTGGGCTTCTTCACACAT 0.606 NaN OREG0021084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 9 26 --- --- RB1 5925 broad.mit.edu 37 13 49037882 49037897 + Frame_Shift_Del DEL ATGTATGGCATATGCA ATGTATGGCATATGCA - rs137853296 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 ATGTATGGCATATGCA - ATGTATGGCATATGCA ATGTATGGCATATGCA Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:49037882_49037897delATGTATGGCATATGCA uc001vcb.2 + 21 2288_2303 c.2122_2137delATGTATGGCATATGCA c.(2122-2139)ATGTATGGCATATGCAAAfs p.M708fs NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 708_713 Pocket; binds T and E1A.|Domain B. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(6)|p.I703_E737del(2)|p.C712_A727del(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATGTGTTCCATGTATGGCATATGCAAAGTGAAGAA 0.296 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) NaN NaN NaN NaN NaN 8 36 --- --- OR4N4 283694 broad.mit.edu 37 15 22382920 22382921 + Frame_Shift_Ins INS - - T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:22382920_22382921insT uc001yuc.1 + 7 1429_1430 c.448_449insT c.(448-450)CTTfs p.L150fs LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Frame_Shift_Ins_p.L150fs NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCTCTGTGGCTTGGGGGTTTT 0.535 NaN NaN NaN NaN NaN NaN 23 132 --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:38882864_38882866delCCT uc002oim.2 + 3 363_365 c.359_361delCCT c.(358-363)CCCTCC>CCC p.S128del SPRED3_uc002oil.1_In_Frame_Del_p.S128del NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 128 Ser-rich. multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.537 NaN NaN NaN NaN NaN NaN 7 46 --- --- MMP9 4318 broad.mit.edu 37 20 44639945 44639945 + Frame_Shift_Del DEL C C - TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:44639945delC uc002xqz.2 + 5 832 c.813delC c.(811-813)TGCfs p.C271fs NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 271 Fibronectin type-II 1. 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) TTGGCTTCTGCCCCAGCGAGA 0.552 NaN NaN NaN NaN NaN NaN 39 82 --- --- ANXA6 309 broad.mit.edu 37 5 150515861 150515861 + Frame_Shift_Del DEL C C - TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:150515861delC uc003ltl.1 - 7 597 c.445delG c.(445-447)GACfs p.D149fs ANXA6_uc011dcp.1_Frame_Shift_Del_p.D117fs|ANXA6_uc003ltm.1_Frame_Shift_Del_p.D149fs|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 149 Annexin 2. melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGAGGTGTCGCCGATGATG 0.547 NaN NaN NaN NaN NaN NaN 27 34 --- ---