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 CCNL2 81669 broad.mit.edu 37 1 1325663 1325663 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:1325663C>T uc001afi.2 - 8 985 c.953G>A c.(952-954)GGG>GAG p.G318E CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.G96E|CCNL2_uc001afg.1_Missense_Mutation_p.G96E|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR NM_030937 NP_112199 Q96S94 CCNL2_HUMAN cyclin L2 isoform A 318 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) CTGTGTGCCCCCAGGCAACAG 0.572 NaN 0 0 0 1 0 22 119 PLCH2 9651 broad.mit.edu 37 1 2435841 2435841 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:2435841C>G uc001aji.1 + 22 3714 c.3440C>G c.(3439-3441)TCC>TGC p.S1147C PLCH2_uc010nyz.1_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.S899C|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_5'UTR NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 1147 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) TCCTCCTCCTCCAGCATGTCA 0.662 NaN 0 0 0 1 0 8 41 MMEL1 79258 broad.mit.edu 37 1 2541195 2541195 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:2541195C>T uc001ajy.2 - 5 582 c.368G>A c.(367-369)TGG>TAG p.W123* MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 123 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GCGCCGCAGCCAGCCTCCGCA 0.607 NaN 0 0 0 1 0 18 59 KIAA0562 9731 broad.mit.edu 37 1 3756216 3756216 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:3756216C>G uc001aky.2 - 7 1050 c.691G>C c.(691-693)GAT>CAT p.D231H KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.D231H NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 231 Potential. centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) TTGGCATAATCATAGCGTTCC 0.358 NaN 0 0 0 1 0 84 39 NOL9 79707 broad.mit.edu 37 1 6585981 6585981 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:6585981C>G uc001ans.2 - 12 2061 c.2042G>C c.(2041-2043)AGA>ACA p.R681T NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 681 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) CTCAGGTTCTCTTGCTCCAAT 0.423 NaN 0 0 0 1 0 40 128 PIK3CD 5293 broad.mit.edu 37 1 9782153 9782153 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:9782153G>C uc001aqb.3 + 17 2384 c.2176G>C c.(2176-2178)GAG>CAG p.E726Q PIK3CD_uc010oaf.1_Missense_Mutation_p.E725Q|PIK3CD_uc001aqe.3_Missense_Mutation_p.E750Q NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 726 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) GGCCTACCTAGAGGCCCTCTC 0.637 NaN OREG0013082 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 15 39 VPS13D 55187 broad.mit.edu 37 1 12364770 12364770 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:12364770G>C uc001atv.2 + 26 6565 c.6424G>C c.(6424-6426)GAG>CAG p.E2142Q VPS13D_uc001atw.2_Missense_Mutation_p.E2142Q|VPS13D_uc001atx.2_Missense_Mutation_p.E1330Q NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2142 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGTTGGCCAAGAGTCCAGTAG 0.522 NaN 0 0 0 1 0 39 14 SPEN 23013 broad.mit.edu 37 1 16260296 16260296 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:16260296G>A uc001axk.1 + 11 7765 c.7561G>A c.(7561-7563)GAC>AAC p.D2521N SPEN_uc010obp.1_Missense_Mutation_p.D2480N NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2521 RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCTTCCCCCAGACACAAAGGC 0.562 NaN 0 0 0 1 0 70 205 SPEN 23013 broad.mit.edu 37 1 16262749 16262749 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:16262749G>A uc001axk.1 + 11 10218 c.10014G>A c.(10012-10014)AAG>AAA p.K3338K SPEN_uc010obp.1_Silent_p.K3297K NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3338 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCCGGACCAAGACAGCTGCTC 0.592 NaN 0 0 0 1 0 29 31 NECAP2 55707 broad.mit.edu 37 1 16767292 16767292 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:16767292C>T uc001ayo.2 + 1 126 c.36C>T c.(34-36)GTC>GTT p.V12V NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Intron|NECAP2_uc001ayq.2_Silent_p.V12V NM_018090 NP_060560 Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 isoform 1 12 endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane 0 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) TGCTCTGTGTCAAGCCTGACG 0.627 NaN OREG0013136 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 11 49 PADI6 353238 broad.mit.edu 37 1 17699682 17699682 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:17699682C>A uc001bak.1 + 2 248 c.248C>A c.(247-249)GCC>GAC p.A83D NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 75 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCCACGTACGCCACAGTGAAG 0.597 NaN 1 0 3.45872e-05 1 3.56746e-05 17 18 ARHGEF10L 55160 broad.mit.edu 37 1 18021748 18021748 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:18021748C>T uc001ban.2 + 28 3439 c.3280C>T c.(3280-3282)CGG>TGG p.R1094W ARHGEF10L_uc001bao.2_Missense_Mutation_p.R1055W|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R1050W|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R855W|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R867W|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R797W|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.R118W NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 1094 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GCCCGTGCCTCGGCTGGAAGG 0.647 NaN 0 0 0 1 0 13 49 UBR4 23352 broad.mit.edu 37 1 19436596 19436596 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:19436596C>A uc001bbi.2 - 81 12103 c.12099G>T c.(12097-12099)AAG>AAT p.K4033N NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 4033 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GTACCTTGTTCTTCTTGCTAG 0.542 NaN 1 0 1.61788e-16 1 1.78652e-16 31 87 CELA3B 23436 broad.mit.edu 37 1 22303559 22303559 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:22303559C>T uc001bfk.2 + 1 142 c.27C>T c.(25-27)CTC>CTT p.L9L CELA3B_uc009vqf.2_Silent_p.L8L NM_007352 NP_031378 P08861 CEL3B_HUMAN elastase 3B, pancreatic preproprotein 9 cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 TCAGTTCCCTCCTCCTTGTGG 0.527 NaN 0 0 0 1 0 59 196 ZBTB40 9923 broad.mit.edu 37 1 22852749 22852749 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:22852749G>C uc001bft.2 + 19 4091 c.3580G>C c.(3580-3582)GAG>CAG p.E1194Q ZBTB40_uc001bfu.2_Missense_Mutation_p.E1194Q|ZBTB40_uc009vqi.1_Missense_Mutation_p.E1082Q NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 1194 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CACTTTGGAGGAGACCCAGCT 0.587 NaN 0 0 0 1 0 19 78 MYOM3 127294 broad.mit.edu 37 1 24421367 24421367 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:24421367C>T uc001bin.3 - 9 1067 c.904G>A c.(904-906)GAG>AAG p.E302K MYOM3_uc001bim.3_5'UTR|MYOM3_uc001bio.2_Missense_Mutation_p.E302K|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 302 Ig-like C2-type 2. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGGATGCTCTCAGCATCTAAC 0.577 NaN 0 0 0 1 0 9 30 LIN28A 79727 broad.mit.edu 37 1 26752886 26752886 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:26752886C>G uc001bmj.2 + 4 681 c.567C>G c.(565-567)ACC>ACG p.T189T LIN28A_uc001bmi.1_RNA NM_024674 NP_078950 Q9H9Z2 LN28A_HUMAN lin-28 homolog 189 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1) 1 GAAAGCCAACCTACTTTCGAG 0.557 NaN 0 0 0 1 0 18 55 PIGV 55650 broad.mit.edu 37 1 27121497 27121497 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:27121497G>C uc001bmz.2 + 3 1303 c.972G>C c.(970-972)CAG>CAC p.Q324H PIGV_uc001bmy.2_Missense_Mutation_p.Q89H|PIGV_uc009vso.2_Missense_Mutation_p.Q324H|PIGV_uc010ofg.1_Missense_Mutation_p.Q89H|PIGV_uc001bna.2_Missense_Mutation_p.Q324H NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan class V 324 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity ovary(1) 1 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) AGCTCAAGCAGGTGCCCAATT 0.488 NaN 0 0 0 1 0 45 202 COL16A1 1307 broad.mit.edu 37 1 32140871 32140871 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:32140871G>A uc001btk.1 - 43 3179 c.2814C>T c.(2812-2814)CTC>CTT p.L938L COL16A1_uc001btj.1_Silent_p.L751L NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 938 Triple-helical region 4 (COL4) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GTTCTGCAGTGAGCCCAGGCT 0.617 NaN 0 0 0 1 0 11 15 KIAA1522 57648 broad.mit.edu 37 1 33237530 33237530 + Nonsense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:33237530C>G uc001bvv.2 + 6 2709 c.2573C>G c.(2572-2574)TCA>TGA p.S858* KIAA1522_uc001bvu.1_Nonsense_Mutation_p.S917*|KIAA1522_uc010ohm.1_Nonsense_Mutation_p.S869*|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 858 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AGGGCCCTGTCAGGGCGGGCC 0.706 NaN 0 0 0 1 0 4 14 CSF3R 1441 broad.mit.edu 37 1 36932897 36932897 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:36932897G>T uc001caw.1 - 16 2152 c.1974C>A c.(1972-1974)CTC>CTA p.L658L MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Silent_p.L220L|CSF3R_uc009vvc.1_Silent_p.L187L|CSF3R_uc001cau.1_Silent_p.L58L|CSF3R_uc001cav.1_Silent_p.L658L|CSF3R_uc001cax.1_Silent_p.L658L|CSF3R_uc001cay.1_Missense_Mutation_p.S627Y NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 658 Box 1 motif.|Cytoplasmic (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CACTTGGCCAGAGGGGATTCT 0.587 NaN 1 0 2.47872e-24 1 2.78548e-24 38 35 EPHA10 284656 broad.mit.edu 37 1 38192853 38192853 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:38192853C>T uc009vvi.2 - 8 1779 c.1693G>A c.(1693-1695)GCC>ACC p.A565T EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 565 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACGACAATGGCGGGGCTCTGG 0.642 NaN 0 0 0 1 0 7 22 EPHA10 284656 broad.mit.edu 37 1 38227612 38227612 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:38227612C>T uc009vvi.2 - 3 401 c.315G>A c.(313-315)CTG>CTA p.L105L EPHA10_uc001cbw.3_Silent_p.L105L NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 105 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTGTGAACTGCAGTTCCACGA 0.617 NaN 0 0 0 1 0 71 57 ZNF642 339559 broad.mit.edu 37 1 40961190 40961190 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:40961190G>A uc001cfo.2 + 6 1334 c.1040G>A c.(1039-1041)AGA>AAA p.R347K ZNF642_uc009vwb.2_Missense_Mutation_p.R347K|ZNF642_uc010ojk.1_Missense_Mutation_p.R348K NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 347 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) CAGCATCATAGAACTCACACT 0.433 NaN 0 0 0 1 0 25 71 EBNA1BP2 10969 broad.mit.edu 37 1 43630326 43630326 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:43630326C>G uc001cin.2 - 8 1055 c.858G>C c.(856-858)AAG>AAC p.K286N EBNA1BP2_uc001cio.2_Missense_Mutation_p.K341N|EBNA1BP2_uc001cim.2_Missense_Mutation_p.K181N|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.K341N NM_006824 NP_006815 Q99848 EBP2_HUMAN EBNA1 binding protein 2 isoform 2 286 ribosome biogenesis membrane fraction|nucleolus protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTGACCCTTTCTTGCCAGGCC 0.572 NaN 0 0 0 1 0 33 20 ARTN 9048 broad.mit.edu 37 1 44401357 44401357 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:44401357C>T uc001cks.2 + 3 811 c.29C>T c.(28-30)ACG>ATG p.T10M ARTN_uc001ckv.2_Missense_Mutation_p.T10M|ARTN_uc001ckt.2_Missense_Mutation_p.T10M|ARTN_uc001cku.2_Missense_Mutation_p.T10M|ARTN_uc001ckw.2_5'Flank NM_057091 NP_476432 Q5T4W7 ARTN_HUMAN neurotrophic factor artemin isoform 1 precursor 10 axon guidance|neuroblast proliferation|signal transduction extracellular region growth factor activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GGCCTCTCCACGCTGTCCCAC 0.597 NaN 0 0 0 1 0 7 13 IPO13 9670 broad.mit.edu 37 1 44422329 44422329 + Nonsense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:44422329G>T uc001ckx.2 + 4 1855 c.1060G>T c.(1060-1062)GAG>TAG p.E354* NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 354 HEAT 5. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TCCTGTCAATGAGACCACCAG 0.547 NaN 1 0 1.49673e-21 1 1.67272e-21 39 69 IPO13 9670 broad.mit.edu 37 1 44424502 44424502 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:44424502G>A uc001ckx.2 + 11 2764 c.1969G>A c.(1969-1971)GAG>AAG p.E657K NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 657 HEAT 11. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CAGTCATCATGAGGATGATCA 0.547 NaN 0 0 0 1 0 24 39 STIL 6491 broad.mit.edu 37 1 47717130 47717130 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:47717130G>A uc001crc.1 - 17 3697 c.3542C>T c.(3541-3543)TCT>TTT p.S1181F TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1135F|STIL_uc010omo.1_Missense_Mutation_p.S1164F|STIL_uc001crd.1_Missense_Mutation_p.S1182F|STIL_uc001cre.1_Missense_Mutation_p.S1181F NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 1181 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TTCACAGTTAGAACAATTAAT 0.373 NaN 0 0 0 1 0 36 66 FAF1 11124 broad.mit.edu 37 1 50956338 50956338 + Splice_Site SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:50956338C>G uc009vyx.1 - 18 1639 c.1576_splice c.e18-1 p.R526_splice FAF1_uc009vyw.1_Splice_Site|FAF1_uc001cse.1_Splice_Site_p.R526_splice|FAF1_uc010onc.1_Splice_Site_p.R284_splice NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) GAGCTTCCCTCTGTTGATAAA 0.308 NaN 0 0 0 1 0 34 74 C1orf168 199920 broad.mit.edu 37 1 57192183 57192183 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:57192183C>G uc001cym.3 - 16 2273 c.1867G>C c.(1867-1869)GAA>CAA p.E623Q C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 623 ovary(3)|skin(2) 5 TCTGATTCTTCAGCACCGTTT 0.299 NaN 0 0 0 1 0 20 67 TACSTD2 4070 broad.mit.edu 37 1 59042168 59042168 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:59042168C>A uc001cyz.3 - 1 999 c.661G>T c.(661-663)GAT>TAT p.D221Y NM_002353 NP_002344 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 221 Extracellular (Potential). cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity 0 all_cancers(7;6.54e-05) TAGGCGGCATCGCCGATATCC 0.652 NaN 1 0 8.12818e-05 1 8.34986e-05 7 14 JAK1 3716 broad.mit.edu 37 1 65316594 65316594 + Splice_Site SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:65316594C>T uc001dbu.1 - 12 1898 c.1649_splice c.e12-1 p.E550_splice JAK1_uc009wam.1_Splice_Site_p.E538_splice NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) TTGGAGATTTCTGTGGAAGAG 0.597 NaN Mis ALL 0 0 0 1 0 5 14 SLC35D1 23169 broad.mit.edu 37 1 67518490 67518490 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:67518490G>C uc001ddk.2 - 3 672 c.288C>G c.(286-288)GTC>GTG p.V96V SLC35D1_uc010oph.1_Silent_p.V17V NM_015139 NP_055954 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-glucuronic 96 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity 0 Lorazepam(DB00186) CAGGAAACTTGACTACTCTGA 0.393 NaN 0 0 0 1 0 62 44 CRYZ 1429 broad.mit.edu 37 1 75188928 75188928 + Silent SNP A A T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:75188928A>T uc001dgk.2 - 4 643 c.138T>A c.(136-138)GGT>GGA p.G46G CRYZ_uc001dgj.2_Silent_p.G46G|CRYZ_uc001dgl.2_Silent_p.G46G|CRYZ_uc001dgm.2_5'UTR NM_001130042 NP_001123514 Q08257 QOR_HUMAN crystallin, zeta isoform a 46 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding 0 Dicumarol(DB00266) CGGGGTTGACACCACATGCAT 0.378 NaN 0 0 0 1 0 64 38 LMO4 8543 broad.mit.edu 37 1 87805743 87805743 + Missense_Mutation SNP C C T rs139269304 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:87805743C>T uc001dmi.2 + 4 1127 c.347C>T c.(346-348)TCT>TTT p.S116F LMO4_uc001dmj.2_Missense_Mutation_p.S116F NM_006769 NP_006760 P61968 LMO4_HUMAN LIM domain only 4 116 LIM zinc-binding 2. neural tube closure|transcription from RNA polymerase II promoter transcription factor complex sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding 0 Lung NSC(277;0.179) all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153) TTTACATGCTCTACCTGCCGG 0.403 NaN 0 0 0 1 0 55 45 RPAP2 79871 broad.mit.edu 37 1 92767046 92767046 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:92767046G>C uc001dot.2 + 3 242 c.133G>C c.(133-135)GAA>CAA p.E45Q RPAP2_uc009wdh.2_RNA|GLMN_uc001dor.2_5'Flank|GLMN_uc009wdg.2_5'Flank|GLMN_uc001dos.2_5'Flank NM_024813 NP_079089 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 45 Potential. integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) AGCTGAACTAGAAGCAGCTGT 0.328 NaN 0 0 0 1 0 17 24 ABCA4 24 broad.mit.edu 37 1 94473258 94473258 + Silent SNP T T G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:94473258T>G uc001dqh.2 - 43 6041 c.5937A>C c.(5935-5937)ACA>ACC p.T1979T ABCA4_uc001dqi.1_Silent_p.T98T NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1979 ABC transporter 2.|Cytoplasmic.|ATP 2 (Potential). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGAATGTGGTTGTTTTGCCGG 0.547 NaN 0 0 0 1 0 20 44 ABCD3 5825 broad.mit.edu 37 1 94941201 94941201 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:94941201G>C uc001dqn.3 + 7 637 c.535G>C c.(535-537)GAC>CAC p.D179H ABCD3_uc001dqm.3_Missense_Mutation_p.D179H|ABCD3_uc010oto.1_Missense_Mutation_p.D203H|ABCD3_uc010otp.1_Missense_Mutation_p.D106H|ABCD3_uc009wdr.2_Missense_Mutation_p.D179H NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 179 ABC transmembrane type-1.|Interaction with PEX19. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) GGGGAATCTGGACAACAGAAT 0.303 NaN 0 0 0 1 0 16 22 COL11A1 1301 broad.mit.edu 37 1 103488306 103488306 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:103488306C>T uc001dul.2 - 8 1555 c.1237G>A c.(1237-1239)GAA>AAA p.E413K COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E425K|COL11A1_uc001dun.2_Missense_Mutation_p.E374K|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 413 Nonhelical 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 p.F413V(1) 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) ACGCTTGTTTCTGTAATATCA 0.328 NaN 0 0 0 1 0 26 45 KIAA1324 57535 broad.mit.edu 37 1 109715160 109715160 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:109715160G>T uc001dwq.2 + 6 802 c.666G>T c.(664-666)AAG>AAT p.K222N KIAA1324_uc009wex.1_Missense_Mutation_p.K222N|KIAA1324_uc009wey.2_Missense_Mutation_p.K222N|KIAA1324_uc010ovg.1_Missense_Mutation_p.K120N NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 222 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GGTGGATGAAGACCACAGAGA 0.502 NaN 1 0 0.0477658 1 0.0479071 8 30 KIAA1324 57535 broad.mit.edu 37 1 109715167 109715167 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:109715167G>A uc001dwq.2 + 6 809 c.673G>A c.(673-675)GAG>AAG p.E225K KIAA1324_uc009wex.1_Missense_Mutation_p.E225K|KIAA1324_uc009wey.2_Missense_Mutation_p.E225K|KIAA1324_uc010ovg.1_Missense_Mutation_p.E123K NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 225 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GAAGACCACAGAGAAAGGATG 0.512 NaN 0 0 0 1 0 9 30 AMPD2 271 broad.mit.edu 37 1 110163738 110163738 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:110163738G>A uc009wfh.1 + 2 645 c.103G>A c.(103-105)GAG>AAG p.E35K AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Missense_Mutation_p.E35K|AMPD2_uc010ovr.1_Silent_p.Q3Q|AMPD2_uc010ovs.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 35 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GGATGTGGCAGAGCCAGGCCC 0.687 NaN 0 0 0 1 0 4 4 AMPD2 271 broad.mit.edu 37 1 110169425 110169425 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:110169425G>C uc009wfh.1 + 7 1313 c.771G>C c.(769-771)CTG>CTC p.L257L AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.L176L|AMPD2_uc001dyc.1_Silent_p.L257L|AMPD2_uc010ovr.1_Silent_p.L182L|AMPD2_uc010ovs.1_Silent_p.L139L|AMPD2_uc001dyd.1_Silent_p.L138L|AMPD2_uc001dye.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 257 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) ACATGGCCCTGTCCCTGCAGA 0.622 NaN 0 0 0 1 0 10 46 PTPN22 26191 broad.mit.edu 37 1 114402061 114402061 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:114402061T>C uc001eds.2 - 2 239 c.109A>G c.(109-111)AAG>GAG p.K37E uc001edv.1_Intron|PTPN22_uc009wgq.2_Missense_Mutation_p.K37E|PTPN22_uc010owo.1_5'UTR|PTPN22_uc001edt.2_Missense_Mutation_p.K37E|PTPN22_uc009wgr.2_Missense_Mutation_p.K37E|PTPN22_uc009wgs.2_Missense_Mutation_p.K37E|PTPN22_uc001edu.2_Missense_Mutation_p.K37E NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 37 Tyrosine-protein phosphatase. negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCTTGTACTTGGTAGATTGC 0.363 NaN 0 0 0 1 0 65 37 TTF2 8458 broad.mit.edu 37 1 117617798 117617798 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:117617798G>C uc001egy.2 + 5 612 c.592G>C c.(592-594)GAG>CAG p.E198Q TTF2_uc001egx.1_Missense_Mutation_p.E198Q NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 198 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) GAAGCAAGAAGAGGGAGCAGA 0.418 NaN 0 0 0 1 0 18 54 FAM46C 54855 broad.mit.edu 37 1 118166265 118166265 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:118166265G>C uc001ehe.2 + 2 974 c.775G>C c.(775-777)GAC>CAC p.D259H NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN hypothetical protein LOC54855 259 0 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CAGGCCCACAGACCAGGAAGA 0.512 NaN Multiple Myeloma(3;1.13e-06) 0 0 0 1 0 16 52 NOTCH2 4853 broad.mit.edu 37 1 120539792 120539792 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:120539792C>T uc001eik.2 - 4 835 c.579G>A c.(577-579)CAG>CAA p.Q193Q NOTCH2_uc001eil.2_Silent_p.Q193Q|NOTCH2_uc001eim.3_Silent_p.Q110Q NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 193 Extracellular (Potential).|EGF-like 5; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TGCCACCATGCTGGCAGTGTC 0.567 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 0 0 0 1 0 13 103 NOTCH2 4853 broad.mit.edu 37 1 120539834 120539834 + Silent SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:120539834A>G uc001eik.2 - 4 793 c.537T>C c.(535-537)TGT>TGC p.C179C NOTCH2_uc001eil.2_Silent_p.C179C|NOTCH2_uc001eim.3_Silent_p.C96C NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 179 Extracellular (Potential).|EGF-like 4. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CATCAGTCTCACATTTCTGCC 0.552 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 0 0 0 1 0 15 116 PRKAB2 5565 broad.mit.edu 37 1 146639436 146639436 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:146639436G>T uc001epe.2 - 3 378 c.233C>A c.(232-234)CCC>CAC p.P78H PRKAB2_uc010ozm.1_Intron|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Missense_Mutation_p.P78H NM_005399 NP_005390 O43741 AAKB2_HUMAN AMP-activated protein kinase beta 2 78 carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm lung(2)|skin(1) 3 all_hematologic(923;0.0487) Adenosine monophosphate(DB00131) GATAACAGTGGGCCGGGCCTG 0.527 NaN 1 0 2.48941e-46 1 2.82244e-46 92 166 PRKAB2 5565 broad.mit.edu 37 1 146639438 146639438 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:146639438C>T uc001epe.2 - 3 376 c.231G>A c.(229-231)CGG>CGA p.R77R PRKAB2_uc010ozm.1_Intron|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Silent_p.R77R NM_005399 NP_005390 O43741 AAKB2_HUMAN AMP-activated protein kinase beta 2 77 carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm lung(2)|skin(1) 3 all_hematologic(923;0.0487) Adenosine monophosphate(DB00131) TAACAGTGGGCCGGGCCTGCT 0.522 NaN 0 0 0 1 0 90 161 PLEKHO1 51177 broad.mit.edu 37 1 150129184 150129184 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:150129184G>A uc001ett.2 + 4 676 c.398G>A c.(397-399)CGA>CAA p.R133Q PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 133 Interaction with capping proteins (CPs). R->E: No effect on binding to capping proteins; when associated with E-135.|R->A: No effect on binding to capping proteins and loss of phospholipid binding; when associated with A-135 and A-137. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GCCATCACCCGAGCCAAGAAC 0.587 NaN 0 0 0 1 0 11 77 APH1A 51107 broad.mit.edu 37 1 150240428 150240428 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:150240428G>A uc001ety.1 - 2 535 c.213C>T c.(211-213)CTC>CTT p.L71L APH1A_uc010pbx.1_Intron|APH1A_uc001etz.1_Silent_p.L71L|APH1A_uc001eua.1_Silent_p.L71L|APH1A_uc010pby.1_Intron|APH1A_uc001eub.1_Intron|APH1A_uc010pbz.1_Intron NM_001077628 NP_001071096 Q96BI3 APH1A_HUMAN anterior pharynx defective 1 homolog A isoform 71 Helical; Name=3; (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane protein binding ovary(1)|lung(1) 2 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAAAAATCAGGAGGCCGTACT 0.557 NaN 0 0 0 1 0 20 115 HORMAD1 84072 broad.mit.edu 37 1 150689625 150689625 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:150689625C>G uc001evk.1 - 3 273 c.167G>C c.(166-168)AGA>ACA p.R56T HORMAD1_uc001evl.1_Missense_Mutation_p.R56T|HORMAD1_uc001evm.1_Missense_Mutation_p.K6N NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 56 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) ATCTAGATATCTTGTTCCATA 0.318 NaN 0 0 0 1 0 25 127 SEMA6C 10500 broad.mit.edu 37 1 151108989 151108989 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:151108989G>C uc001ewu.2 - 12 1341 c.1041C>G c.(1039-1041)TTC>TTG p.F347L SEMA6C_uc001ewv.2_Missense_Mutation_p.F347L|SEMA6C_uc001eww.2_Missense_Mutation_p.F307L|SEMA6C_uc010pcq.1_Missense_Mutation_p.F347L NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 347 Extracellular (Potential).|Sema. integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCTGCTCCTTGAACTTGCCCT 0.567 NaN 0 0 0 1 0 43 204 FLG 2312 broad.mit.edu 37 1 152279938 152279938 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:152279938C>G uc001ezu.1 - 3 7460 c.7424G>C c.(7423-7425)GGA>GCA p.G2475A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2475 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTAGTGGGATCCCTGCCTTCC 0.577 NaN Ichthyosis 0 0 0 1 0 136 337 FLG 2312 broad.mit.edu 37 1 152281452 152281452 + Silent SNP A A T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:152281452A>T uc001ezu.1 - 3 5946 c.5910T>A c.(5908-5910)TCT>TCA p.S1970S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1970 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTGTCTGCAGAGTGCCCGT 0.557 NaN Ichthyosis 0 0 0 1 0 106 569 FLG 2312 broad.mit.edu 37 1 152283396 152283396 + Silent SNP A A T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:152283396A>T uc001ezu.1 - 3 4002 c.3966T>A c.(3964-3966)TCT>TCA p.S1322S uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1322 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTGTCTGCAGAGTGCCCGT 0.358 NaN Ichthyosis 0 0 0 1 0 14 302 S100A8 6279 broad.mit.edu 37 1 153362985 153362985 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:153362985C>G uc001fbs.2 - 2 82 c.27G>C c.(25-27)TTG>TTC p.L9F NM_002964 NP_002955 P05109 S10A8_HUMAN S100 calcium-binding protein A8 9 chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding 0 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGATAGAGTTCAAGGCTTTCT 0.507 NaN 0 0 0 1 0 53 223 ILF2 3608 broad.mit.edu 37 1 153638142 153638142 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:153638142C>T uc001fcr.2 - 7 538 c.457G>A c.(457-459)GAA>AAA p.E153K ILF2_uc010pdy.1_Missense_Mutation_p.E115K|ILF2_uc009wok.2_Intron|ILF2_uc009wol.1_Missense_Mutation_p.E115K NM_004515 NP_004506 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 153 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGCAAACCTTCAGAAGGATCC 0.388 NaN 0 0 0 1 0 8 145 FDPS 2224 broad.mit.edu 37 1 155288696 155288696 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:155288696C>G uc001fkc.2 + 8 1042 c.823C>G c.(823-825)CCT>GCT p.P275A RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.P209A|FDPS_uc001fke.2_Missense_Mutation_p.P275A|FDPS_uc001fkf.2_Missense_Mutation_p.P209A|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank NM_002004 NP_001995 P14324 FPPS_HUMAN farnesyl diphosphate synthase isoform a 275 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) CTTCTACCTTCCTATAGCTGC 0.498 NaN 0 0 0 1 0 70 86 ASH1L 55870 broad.mit.edu 37 1 155448304 155448304 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:155448304G>C uc009wqq.2 - 3 4837 c.4357C>G c.(4357-4359)CTT>GTT p.L1453V ASH1L_uc001fkt.2_Missense_Mutation_p.L1453V|ASH1L_uc009wqr.1_Missense_Mutation_p.L1453V NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1453 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTGGTTGTAAGAAAGGCCTCC 0.493 NaN 0 0 0 1 0 26 112 BCAN 63827 broad.mit.edu 37 1 156622477 156622477 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:156622477C>T uc001fpp.2 + 8 2071 c.1735C>T c.(1735-1737)CGA>TGA p.R579* BCAN_uc001fpo.2_Nonsense_Mutation_p.R579* NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 579 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGGGTCCCTCGAGGAGAGAG 0.642 NaN 0 0 0 1 0 24 32 SPTA1 6708 broad.mit.edu 37 1 158615287 158615287 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:158615287G>A uc001fst.1 - 28 4193 c.3994C>T c.(3994-3996)CAG>TAG p.Q1332* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1332 Spectrin 13. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGTTTTACCTGATGTCTCTCC 0.448 NaN 0 0 0 1 0 43 74 OR6N1 128372 broad.mit.edu 37 1 158735776 158735776 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:158735776C>A uc010piq.1 - 1 697 c.697G>T c.(697-699)GGC>TGC p.G233C NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TTCCTCTTGCCGGCAGCTGAG 0.498 NaN 1 0 3.62531e-18 1 4.02504e-18 32 104 OR10J1 26476 broad.mit.edu 37 1 159409997 159409997 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:159409997G>C uc010piv.1 + 1 449 c.449G>C c.(448-450)AGG>ACG p.R150T uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 150 Cytoplasmic (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) ATGAACAAGAGGCTGCGTATC 0.488 NaN 0 0 0 1 0 11 155 CCDC19 25790 broad.mit.edu 37 1 159857685 159857685 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:159857685C>G uc001fui.2 - 5 552 c.534G>C c.(532-534)CAG>CAC p.Q178H CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.Q93H|CCDC19_uc001ful.2_Missense_Mutation_p.Q93H|CCDC19_uc009wtc.1_Missense_Mutation_p.Q178H NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 178 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TGTTGGCTCTCTGCAGGAGGT 0.552 NaN 0 0 0 1 0 94 101 PIGM 93183 broad.mit.edu 37 1 160000857 160000857 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:160000857G>C uc001fuv.1 - 1 927 c.673C>G c.(673-675)CGG>GGG p.R225G NM_145167 NP_660150 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, 225 Cytoplasmic (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCACAGCCCGATTACACAGC 0.488 NaN 0 0 0 1 0 35 127 ATP1A2 477 broad.mit.edu 37 1 160098576 160098576 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:160098576G>A uc001fvc.2 + 9 1284 c.1152G>A c.(1150-1152)ATG>ATA p.M384I ATP1A2_uc001fvb.2_Missense_Mutation_p.M384I|ATP1A2_uc010piz.1_Missense_Mutation_p.M229I|ATP1A2_uc001fvd.2_Missense_Mutation_p.M120I|ATP1A2_uc009wtg.1_Missense_Mutation_p.M72I NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 384 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGAACCGCATGACCGTCGCCC 0.592 NaN 0 0 0 1 0 28 73 LY9 4063 broad.mit.edu 37 1 160766040 160766040 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:160766040G>A uc001fwu.2 + 1 113 c.63G>A c.(61-63)CAG>CAA p.Q21Q LY9_uc001fwt.2_Silent_p.Q21Q|LY9_uc010pjs.1_Silent_p.Q21Q|LY9_uc001fwv.2_Silent_p.Q21Q|LY9_uc001fww.2_Silent_p.Q21Q|LY9_uc001fwx.2_Silent_p.Q21Q NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 21 cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GTAAGCCACAGAGGAGTCAGC 0.498 NaN 0 0 0 1 0 29 112 LY9 4063 broad.mit.edu 37 1 160794037 160794037 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:160794037C>G uc001fwu.2 + 9 1947 c.1897C>G c.(1897-1899)CAG>GAG p.Q633E LY9_uc001fwv.2_Missense_Mutation_p.Q619E|LY9_uc001fww.2_Missense_Mutation_p.Q543E|LY9_uc001fwx.2_Intron|LY9_uc001fwz.2_Intron NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 633 Cytoplasmic (Potential). cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ACGGAAACCTCAGGTGGTGAG 0.488 NaN 0 0 0 1 0 22 101 HSD17B7 51478 broad.mit.edu 37 1 162767598 162767598 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:162767598G>A uc001gci.2 + 4 434 c.339G>A c.(337-339)GTG>GTA p.V113V HSD17B7_uc009wuv.2_RNA NM_016371 NP_057455 P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 113 Extracellular (Potential). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity ovary(1) 1 all_hematologic(112;0.115) NADH(DB00157) TCAGAAAAGTGATTCATATGT 0.433 NaN 0 0 0 1 0 5 35 GPA33 10223 broad.mit.edu 37 1 167024974 167024974 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:167024974G>C uc001gea.1 - 5 1028 c.684C>G c.(682-684)GTC>GTG p.V228V NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 228 Extracellular (Potential). integral to plasma membrane receptor activity 0 TACGAGATCTGACGGCCACCG 0.557 NaN 0 0 0 1 0 19 78 DCAF6 55827 broad.mit.edu 37 1 168035698 168035698 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:168035698G>C uc001gew.2 + 17 2649 c.2407G>C c.(2407-2409)GAT>CAT p.D803H DCAF6_uc001gev.2_Missense_Mutation_p.D823H|DCAF6_uc001gex.2_Missense_Mutation_p.D894H|DCAF6_uc010plk.1_Missense_Mutation_p.D863H|DCAF6_uc001gey.2_Missense_Mutation_p.D676H|DCAF6_uc001gez.2_Missense_Mutation_p.D106H NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 803 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 AAAACTTGCTGATGAAGTAAG 0.289 NaN 0 0 0 1 0 4 55 C1orf156 92342 broad.mit.edu 37 1 169762167 169762167 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:169762167C>G uc001ggn.2 - 2 948 c.670G>C c.(670-672)GAT>CAT p.D224H C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank NM_033418 NP_219486 O95568 MET18_HUMAN hypothetical protein MGC9084 224 cytoplasm protein methyltransferase activity 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTTACTTCATCAATCACCATA 0.373 NaN 0 0 0 1 0 35 173 BAT2L2 23215 broad.mit.edu 37 1 171482304 171482304 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:171482304G>C uc010pmg.1 + 3 543 c.277G>C c.(277-279)GAA>CAA p.E93Q BAT2L2_uc001ghq.1_Missense_Mutation_p.E95Q|BAT2L2_uc001ghr.1_Missense_Mutation_p.E95Q NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 93 protein C-terminus binding 0 GCAACATGAAGAAGAAAAGTG 0.398 NaN 0 0 0 1 0 7 26 BAT2L2 23215 broad.mit.edu 37 1 171501557 171501557 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:171501557G>C uc010pmg.1 + 12 1590 c.1324G>C c.(1324-1326)GAT>CAT p.D442H BAT2L2_uc001ghr.1_Missense_Mutation_p.D444H NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 442 protein C-terminus binding 0 AGCTGATGAAGATGAAATATG 0.473 NaN 0 0 0 1 0 10 29 MYOC 4653 broad.mit.edu 37 1 171621212 171621212 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:171621212C>T uc001ghu.2 - 1 562 c.540G>A c.(538-540)CTG>CTA p.L180L MYOC_uc010pmk.1_Silent_p.L122L NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 180 Potential. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GGCCCCTTCTCAGCCTTGCTA 0.562 NaN 0 0 0 1 0 82 275 SLC9A11 284525 broad.mit.edu 37 1 173523900 173523900 + Nonsense_Mutation SNP G G C rs138213092 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:173523900G>C uc001giz.2 - 11 1692 c.1269C>G c.(1267-1269)TAC>TAG p.Y423* SLC9A11_uc009wwe.2_Intron|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 423 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 GAGTCATCACGTATGAATTTA 0.328 NaN 0 0 0 1 0 27 135 TNR 7143 broad.mit.edu 37 1 175375427 175375427 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:175375427C>G uc001gkp.1 - 1 505 c.424G>C c.(424-426)GAG>CAG p.E142Q TNR_uc009wwu.1_Missense_Mutation_p.E142Q|TNR_uc010pmz.1_Missense_Mutation_p.E142Q NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 142 Potential. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCCAGCATCTCGATCCGGCTC 0.602 NaN 0 0 0 1 0 20 76 RALGPS2 55103 broad.mit.edu 37 1 178848093 178848093 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:178848093G>C uc001glz.2 + 10 1140 c.802G>C c.(802-804)GAA>CAA p.E268Q RALGPS2_uc001gly.1_Missense_Mutation_p.E268Q|RALGPS2_uc010pnb.1_Missense_Mutation_p.E268Q NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 268 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding 0 GTATATAGAAGAACTACAAAA 0.338 NaN 0 0 0 1 0 10 32 SMG7 9887 broad.mit.edu 37 1 183515224 183515224 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:183515224G>C uc001gqg.2 + 17 2616 c.2494G>C c.(2494-2496)GAG>CAG p.E832Q SMG7_uc010pob.1_Missense_Mutation_p.E815Q|SMG7_uc001gqf.2_Missense_Mutation_p.E786Q|SMG7_uc001gqh.2_Missense_Mutation_p.E786Q|SMG7_uc001gqi.2_Missense_Mutation_p.E744Q|SMG7_uc010poc.1_Missense_Mutation_p.E790Q NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 832 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AAAACTGTTTGAGCCGTCATT 0.463 NaN 0 0 0 1 0 16 55 EDEM3 80267 broad.mit.edu 37 1 184686740 184686740 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:184686740G>C uc010pok.1 - 12 1440 c.1179C>G c.(1177-1179)TTC>TTG p.F393L EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.F393L NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 393 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 AGTGTACTCTGAAATCTGTGG 0.294 NaN 0 0 0 1 0 7 18 HMCN1 83872 broad.mit.edu 37 1 186083224 186083224 + Missense_Mutation SNP G G T rs138705216 by1000genomes TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:186083224G>T uc001grq.1 + 73 11474 c.11245G>T c.(11245-11247)GAT>TAT p.D3749Y NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3749 Ig-like C2-type 36. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATGGAGAAAGGATGGAGCTGT 0.388 NaN 1 0 9.8876e-21 1 1.10381e-20 38 35 F13B 2165 broad.mit.edu 37 1 197019986 197019986 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:197019986G>A uc001gtt.1 - 10 1623 c.1579C>T c.(1579-1581)CCT>TCT p.P527S NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 527 Sushi 9. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ATAAGAGGAGGAGATGTGCAC 0.313 NaN 0 0 0 1 0 16 21 CAMSAP1L1 23271 broad.mit.edu 37 1 200708985 200708985 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:200708985G>C uc001gvl.2 + 1 300 c.30G>C c.(28-30)ATG>ATC p.M10I CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.M10I|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.M10I NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 10 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 CCAGGGAGATGAGAAAGACGT 0.592 NaN 0 0 0 1 0 7 14 BTG2 7832 broad.mit.edu 37 1 203276294 203276294 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:203276294C>G uc001gzq.2 + 2 276 c.205C>G c.(205-207)CGC>GGC p.R69G FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA NM_006763 NP_006754 P78543 BTG2_HUMAN B-cell translocation gene 2 69 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(1)|kidney(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.203) CCGCTGCATTCGCATCAACCA 0.612 NaN 0 0 0 1 0 15 19 PIK3C2B 5287 broad.mit.edu 37 1 204400860 204400860 + Missense_Mutation SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:204400860A>G uc001haw.2 - 29 4696 c.4217T>C c.(4216-4218)TTT>TCT p.F1406S PIK3C2B_uc010pqv.1_Missense_Mutation_p.F1378S NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1406 PX. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GAACTCCTCAAAGGTCCGCTG 0.527 NaN OREG0014134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 7 134 PIK3C2B 5287 broad.mit.edu 37 1 204438084 204438084 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:204438084G>A uc001haw.2 - 3 1326 c.847C>T c.(847-849)CAG>TAG p.Q283* PIK3C2B_uc010pqv.1_Nonsense_Mutation_p.Q283*|PIK3C2B_uc001hax.1_Nonsense_Mutation_p.Q283*|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 283 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGGGGCACCTGAGGGGGCATA 0.642 NaN 0 0 0 1 0 23 79 INTS7 25896 broad.mit.edu 37 1 212120009 212120009 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:212120009C>T uc001hiw.1 - 18 2460 c.2355G>A c.(2353-2355)CTG>CTA p.L785L INTS7_uc009xdb.1_Intron|INTS7_uc001hix.1_Silent_p.L661L|INTS7_uc001hiy.1_Silent_p.L771L|INTS7_uc010pta.1_Silent_p.L736L NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 785 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGGGAACTTTCAGCAAAGCAA 0.343 NaN 0 0 0 1 0 41 25 PTPN14 5784 broad.mit.edu 37 1 214542945 214542945 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:214542945C>T uc001hkk.1 - 17 3397 c.3126G>A c.(3124-3126)ACG>ACA p.T1042T NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 1042 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TTCGAAACTTCGTGGTGACCT 0.488 NaN 0 0 0 1 0 67 153 IARS2 55699 broad.mit.edu 37 1 220273958 220273958 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:220273958C>G uc001hmc.2 + 3 621 c.517C>G c.(517-519)CAG>GAG p.Q173E NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 173 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TAGAGAAGCTCAGAATCTTTC 0.348 NaN 0 0 0 1 0 10 37 FAM177B 400823 broad.mit.edu 37 1 222923383 222923383 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:222923383G>A uc001hnt.2 + 6 726 c.460G>A c.(460-462)GAG>AAG p.E154K uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA NM_207468 NP_997351 A6PVY3 F177B_HUMAN hypothetical protein LOC400823 154 ovary(1) 1 GGATGTGACAGAGGCCATTCC 0.522 NaN 0 0 0 1 0 14 53 CNIH3 149111 broad.mit.edu 37 1 224804936 224804936 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:224804936C>T uc001hos.1 + 1 758 c.60C>T c.(58-60)CTC>CTT p.L20L NM_152495 NP_689708 Q8TBE1 CNIH3_HUMAN cornichon homolog 3 20 Helical; (Potential). intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane 0 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) GCGCTGCGCTCATCTTCTTCG 0.557 NaN 0 0 0 1 0 37 178 WNT3A 89780 broad.mit.edu 37 1 228210569 228210569 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:228210569C>T uc001hrq.1 + 2 351 c.273C>T c.(271-273)GTC>GTT p.V91V WNT3A_uc001hrp.1_Silent_p.V91V NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 91 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) GCACCACCGTCCACGACAGCC 0.642 NaN 0 0 0 1 0 21 27 OBSCN 84033 broad.mit.edu 37 1 228558384 228558384 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:228558384C>G uc009xez.1 + 93 20215 c.20171C>G c.(20170-20172)TCC>TGC p.S6724C OBSCN_uc001hsr.1_Missense_Mutation_p.S1353C NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6724 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) TCCCAGAAATCCATGCCTGCG 0.632 NaN 0 0 0 1 0 18 26 CAPN9 10753 broad.mit.edu 37 1 230937333 230937333 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:230937333G>T uc001htz.1 + 20 2177 c.2064G>T c.(2062-2064)ATG>ATT p.M688I CAPN9_uc009xfg.1_Missense_Mutation_p.M625I|CAPN9_uc001hua.1_Missense_Mutation_p.M662I NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 688 Domain IV. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) ATTTGACAATGAACATCTGAG 0.532 NaN 1 0 1.22574e-08 1 1.29716e-08 22 63 SIPA1L2 57568 broad.mit.edu 37 1 232564265 232564265 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:232564265C>G uc001hvg.2 - 15 4460 c.4302G>C c.(4300-4302)CAG>CAC p.Q1434H SIPA1L2_uc001hvf.2_Missense_Mutation_p.Q508H NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1434 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) CCACCACTGTCTGATGCTGAG 0.443 NaN 0 0 0 1 0 27 46 SIPA1L2 57568 broad.mit.edu 37 1 232650028 232650028 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:232650028T>C uc001hvg.2 - 1 1216 c.1058A>G c.(1057-1059)AAA>AGA p.K353R NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 353 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) GTTTTTCCTTTTCCCCACATT 0.493 NaN 0 0 0 1 0 20 87 LYST 1130 broad.mit.edu 37 1 235887452 235887453 + Missense_Mutation DNP GA GA TT TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:235887452_235887453GA>TT uc001hxj.2 - 39 9365_9366 c.9190_9191TC>AA c.(9190-9192)TCA>AAA p.S3064K LYST_uc001hxi.2_Missense_Mutation_p.S288K NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3064 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) CCAGGAAAATGATGCTGGTTCC 0.317 NaN Chediak-Higashi_syndrome 0 0 0 1 0 14 161 ACTN2 88 broad.mit.edu 37 1 236899015 236899015 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:236899015G>A uc001hyf.2 + 8 982 c.778G>A c.(778-780)GAG>AAG p.E260K ACTN2_uc001hyg.2_Missense_Mutation_p.E15K|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 260 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGCGGGCGCGGAGCAGGTACT 0.498 NaN 0 0 0 1 0 26 15 FH 2271 broad.mit.edu 37 1 241663871 241663871 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:241663871G>A uc001hyx.2 - 9 1288 c.1256C>T c.(1255-1257)TCA>TTA p.S419L NM_000143 NP_000134 P07954 FUMH_HUMAN fumarate hydratase precursor 419 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity lung(3)|ovary(1)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) CAGCCTGGCTGAGTGTAACAC 0.323 NaN Mis|N|F lieomyomatosis|renal Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer 0 0 0 1 0 51 24 KMO 8564 broad.mit.edu 37 1 241714300 241714300 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr1:241714300C>G uc009xgp.2 + 4 333 c.268C>G c.(268-270)CTT>GTT p.L90V KMO_uc001hyy.2_Missense_Mutation_p.L90V|KMO_uc009xgo.1_Missense_Mutation_p.L90V NM_003679 NP_003670 O15229 KMO_HUMAN kynurenine 3-monooxygenase 90 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity ovary(2) 2 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) GATCCACTCTCTTTCAGGAAA 0.398 NaN 0 0 0 1 0 51 101 ITIH2 3698 broad.mit.edu 37 10 7786827 7786827 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:7786827C>G uc001ijs.2 + 19 2644 c.2482C>G c.(2482-2484)CTT>GTT p.L828V NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 828 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 TTCTGTTTTACTTCATCGTGT 0.423 NaN 0 0 0 1 0 12 86 CELF2 10659 broad.mit.edu 37 10 11047353 11047353 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:11047353G>T uc001iki.3 + 1 95 c.3G>T c.(1-3)ATG>ATT p.M1I CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.M1I NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 1 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 ATAGAAGCATGCGCTGTCCCA 0.393 NaN 1 0 1.15505e-17 1 1.27961e-17 38 216 FRMD4A 55691 broad.mit.edu 37 10 13698952 13698952 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:13698952G>C uc001ims.2 - 22 2989 c.2637C>G c.(2635-2637)TTC>TTG p.F879L FRMD4A_uc009xjf.1_Missense_Mutation_p.F879L NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 879 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 AGCTCTCCTTGAACAGGCCGC 0.716 NaN 0 0 0 1 0 8 14 HSPA14 51182 broad.mit.edu 37 10 14909867 14909867 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:14909867G>C uc001inf.2 + 12 1480 c.1339G>C c.(1339-1341)GAT>CAT p.D447H NM_016299 NP_057383 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 isoform 1 447 'de novo' cotranslational protein folding cytosol ATP binding|protein binding ovary(2)|breast(2)|lung(1) 5 CTATGAGTCTGATGGGAAGAA 0.433 NaN 0 0 0 1 0 22 103 DCLRE1C 64421 broad.mit.edu 37 10 14995952 14995952 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:14995952C>G uc001inn.2 - 1 143 c.58G>C c.(58-60)GAT>CAT p.D20H DCLRE1C_uc010qbx.1_Missense_Mutation_p.D20H|DCLRE1C_uc001inl.2_5'UTR|DCLRE1C_uc009xji.2_5'UTR|DCLRE1C_uc001inm.2_5'UTR|DCLRE1C_uc001ino.2_5'UTR|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_5'UTR|DCLRE1C_uc001inq.2_5'UTR|DCLRE1C_uc001inr.2_5'UTR NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 20 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 TTCTCCCTATCGAAGCGGTCT 0.647 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ 0 0 0 1 0 22 95 NMT2 9397 broad.mit.edu 37 10 15154865 15154865 + Nonsense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:15154865G>C uc001inz.1 - 10 1352 c.1268C>G c.(1267-1269)TCA>TGA p.S423* NMT2_uc001ioa.1_Nonsense_Mutation_p.S410*|NMT2_uc009xjo.1_Nonsense_Mutation_p.S423*|NMT2_uc010qbz.1_Nonsense_Mutation_p.S235* NM_004808 NP_004799 O60551 NMT2_HUMAN N-myristoyltransferase 2 423 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity ovary(1) 1 GTTGTAGAATGAGTAGGCGGC 0.552 NaN 0 0 0 1 0 25 137 KIAA1217 56243 broad.mit.edu 37 10 24669900 24669900 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:24669900G>C uc001iru.3 + 3 860 c.457G>C c.(457-459)GAG>CAG p.E153Q KIAA1217_uc001irs.2_Missense_Mutation_p.E73Q|KIAA1217_uc001irt.3_Missense_Mutation_p.E153Q|KIAA1217_uc010qcy.1_Missense_Mutation_p.E153Q|KIAA1217_uc010qcz.1_Missense_Mutation_p.E153Q|KIAA1217_uc001irv.1_Missense_Mutation_p.E3Q|KIAA1217_uc010qda.1_RNA NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 153 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 AGCCATGTCTGAGGGGGATGC 0.552 NaN 0 0 0 1 0 31 29 MRPS16 51021 broad.mit.edu 37 10 75011600 75011600 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:75011600G>C uc001jts.1 - 2 406 c.195C>G c.(193-195)CTC>CTG p.L65L DNAJC9_uc010qkg.1_5'Flank|MRPS16_uc010qkh.1_RNA|MRPS16_uc001jtt.1_RNA|uc001jtu.1_5'Flank NM_016065 NP_057149 Q9Y3D3 RT16_HUMAN mitochondrial ribosomal protein S16 precursor 65 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 Prostate(51;0.0119) TGAGGGCAACGAGTTTTTCTC 0.537 NaN 0 0 0 1 0 57 26 PTEN 5728 broad.mit.edu 37 10 89725134 89725134 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:89725134G>A uc001kfb.2 + 10 2148 c.1117G>A c.(1117-1119)GAA>AAA p.E373K NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 373 activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.Y27fs*1(2)|p.N212fs*1(2)|p.G165_*404del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TAGTGACAATGAACCTGATCA 0.388 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 0 0 0 1 0 10 17 BTAF1 9044 broad.mit.edu 37 10 93699793 93699793 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:93699793G>C uc001khr.2 + 3 321 c.223G>C c.(223-225)GAG>CAG p.E75Q BTAF1_uc009xua.1_RNA NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 75 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) AAATGTACCTGAGTGGAATCC 0.353 NaN 0 0 0 1 0 8 14 PDE6C 5146 broad.mit.edu 37 10 95400704 95400704 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:95400704G>T uc001kiu.3 + 14 1903 c.1765G>T c.(1765-1767)GAT>TAT p.D589Y NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 589 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) GTACTACACAGATCTCGAAGC 0.363 NaN 1 0 0.00244969 1 0.00248141 15 29 HELLS 3070 broad.mit.edu 37 10 96317928 96317928 + Missense_Mutation SNP A A T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:96317928A>T uc001kjt.2 + 4 414 c.309A>T c.(307-309)AAA>AAT p.K103N HELLS_uc001kjs.2_Missense_Mutation_p.K87N|HELLS_uc009xul.2_Missense_Mutation_p.K103N|HELLS_uc009xum.2_Missense_Mutation_p.K103N|HELLS_uc009xun.2_5'UTR|HELLS_uc009xuo.2_Missense_Mutation_p.K103N|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_5'UTR|HELLS_uc009xur.2_RNA NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 103 Potential. cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity ovary(1)|kidney(1) 2 Colorectal(252;0.0429) all cancers(201;2.13e-05) TGGAGAGAAAAAAGGAGTCTT 0.269 NaN 0 0 0 1 0 20 23 PIK3AP1 118788 broad.mit.edu 37 10 98383279 98383279 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:98383279C>A uc001kmq.2 - 11 1813 c.1685G>T c.(1684-1686)AGT>ATT p.S562I PIK3AP1_uc001kmo.2_Missense_Mutation_p.S161I|PIK3AP1_uc001kmp.2_Missense_Mutation_p.S384I NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 562 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CCGCTCTTGACTTTTTTCTGC 0.343 NaN 1 0 1.00798e-23 1 1.13023e-23 58 81 FAM178A 55719 broad.mit.edu 37 10 102672946 102672946 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:102672946C>G uc001krt.3 + 1 621 c.79C>G c.(79-81)CTG>GTG p.L27V FAM178A_uc001krq.3_RNA|FAM178A_uc001krr.1_Missense_Mutation_p.L27V|FAM178A_uc001krs.2_Missense_Mutation_p.L27V NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 27 0 GCGCTGCCATCTGAGACCCGG 0.697 NaN 0 0 0 1 0 5 2 TACC2 10579 broad.mit.edu 37 10 124008642 124008642 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:124008642G>A uc001lfv.2 + 21 8991 c.8631G>A c.(8629-8631)CTG>CTA p.L2877L TACC2_uc001lfw.2_Silent_p.L1023L|TACC2_uc009xzx.2_Silent_p.L2755L|TACC2_uc010qtv.1_Silent_p.L2804L|TACC2_uc001lfx.2_Silent_p.L504L|TACC2_uc001lfy.2_Silent_p.L500L|TACC2_uc001lfz.2_Silent_p.L955L|TACC2_uc001lga.2_Silent_p.L925L|TACC2_uc009xzy.2_Silent_p.L937L|TACC2_uc001lgb.2_Silent_p.L835L NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2877 Potential. microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACCAGGCCCTGAAGGTGCACG 0.602 NaN 0 0 0 1 0 3 5 PLEKHA1 59338 broad.mit.edu 37 10 124175485 124175485 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr10:124175485C>G uc001lge.1 + 7 702 c.579C>G c.(577-579)ATC>ATG p.I193M PLEKHA1_uc001lgf.1_Missense_Mutation_p.I193M|PLEKHA1_uc001lgg.1_Missense_Mutation_p.I193M|PLEKHA1_uc001lgh.2_Missense_Mutation_p.I193M NM_001001974 NP_001001974 Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A 193 PH 2. B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding kidney(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTGCGGTTATCAAAGCTGGAT 0.348 NaN 0 0 0 1 0 16 1 ART1 417 broad.mit.edu 37 11 3680949 3680949 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:3680949C>A uc001lye.1 + 3 301 c.200C>A c.(199-201)ACG>AAG p.T67K ART1_uc009yeb.1_Missense_Mutation_p.T67K NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 67 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) CTCAACCACACGGAGTTCCAG 0.602 NaN 1 0 0.000274275 1 0.000279497 8 4 OR52B4 143496 broad.mit.edu 37 11 4389102 4389102 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:4389102G>C uc010qye.1 - 1 424 c.424C>G c.(424-426)CTG>GTG p.L142V NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TTCTTGATCAGAGCATTTGTA 0.388 NaN 0 0 0 1 0 14 31 TUB 7275 broad.mit.edu 37 11 8120357 8120357 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:8120357C>T uc001mga.2 + 9 1200 c.1051C>T c.(1051-1053)CAG>TAG p.Q351* TUB_uc010rbk.1_Nonsense_Mutation_p.Q357*|TUB_uc001mfy.2_Nonsense_Mutation_p.Q406* NM_177972 NP_813977 P50607 TUB_HUMAN tubby isoform b 351 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane ovary(1) 1 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) AGTCAACCCTCAGAAGGCCTC 0.507 NaN OREG0020732 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 17 66 IPO7 10527 broad.mit.edu 37 11 9450610 9450610 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:9450610G>A uc001mho.2 + 14 1600 c.1458G>A c.(1456-1458)GTG>GTA p.V486V NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 486 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTTGTGAAGTGAAGTTCAAAA 0.388 NaN 0 0 0 1 0 27 22 UEVLD 55293 broad.mit.edu 37 11 18555896 18555896 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:18555896G>A uc001mot.2 - 11 1309 c.1229C>T c.(1228-1230)TCT>TTT p.S410F UEVLD_uc001mou.2_Intron|UEVLD_uc010rde.1_Missense_Mutation_p.S280F|UEVLD_uc010rdf.1_Missense_Mutation_p.S388F|UEVLD_uc010rdg.1_Missense_Mutation_p.S280F|UEVLD_uc001mov.2_Intron NM_001040697 NP_001035787 Q8IX04 UEVLD_HUMAN ubiquitin-conjugating enzyme E2-like isoform a 410 cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor 0 AGCTGATACAGAATGCACTTT 0.299 NaN 0 0 0 1 0 4 44 SPTY2D1 144108 broad.mit.edu 37 11 18637593 18637593 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:18637593G>C uc001moy.2 - 3 444 c.228C>G c.(226-228)CTC>CTG p.L76L SPTY2D1_uc010rdi.1_Silent_p.L76L NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 76 Potential. breast(1) 1 TGTCATGTTTGAGCTCAATTC 0.388 NaN 0 0 0 1 0 33 38 LUZP2 338645 broad.mit.edu 37 11 24998163 24998163 + Missense_Mutation SNP A A T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:24998163A>T uc001mqs.2 + 8 783 c.549A>T c.(547-549)CAA>CAT p.Q183H LUZP2_uc009yif.2_Missense_Mutation_p.Q97H|LUZP2_uc009yig.2_Missense_Mutation_p.Q141H NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 183 Potential.|Leucine-zipper. extracellular region ovary(1)|skin(1) 2 ATCTGGAACAAAAATTAGCTG 0.343 NaN 0 0 0 1 0 9 35 CCDC73 493860 broad.mit.edu 37 11 32632777 32632777 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:32632777C>G uc001mtv.2 - 17 2975 c.2931G>C c.(2929-2931)TTG>TTC p.L977F NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 977 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TCCAGTTATTCAAAGTGTCAG 0.393 NaN 0 0 0 1 0 26 78 ALX4 60529 broad.mit.edu 37 11 44331236 44331236 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:44331236C>T uc001myb.2 - 1 481 c.377G>A c.(376-378)CGA>CAA p.R126Q NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 126 hair follicle development 0 GCAGGCGCCTCGCTGCAAGTA 0.473 NaN 0 0 0 1 0 4 0 PRDM11 56981 broad.mit.edu 37 11 45246160 45246160 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:45246160G>C uc001myo.2 + 8 1486 c.1237G>C c.(1237-1239)GAG>CAG p.E413Q NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 413 upper_aerodigestive_tract(1) 1 AGGCCAATTGGAGGATGAAGA 0.577 NaN 0 0 0 1 0 38 63 OR5D13 390142 broad.mit.edu 37 11 55540964 55540964 + Missense_Mutation SNP G G C rs117263837 byFrequency TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:55540964G>C uc010ril.1 + 1 51 c.51G>C c.(49-51)TTG>TTC p.L17F NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 17 Extracellular (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) TTATTCTCTTGGGTTTTTCAG 0.383 NaN 0 0 0 1 0 37 244 OR5M10 390167 broad.mit.edu 37 11 56344278 56344278 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:56344278C>T uc001niz.1 - 1 920 c.920G>A c.(919-921)GGA>GAA p.G307E NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAAGGATTTTCCCCTAATCAT 0.373 NaN 0 0 0 1 0 75 251 OSBP 5007 broad.mit.edu 37 11 59368846 59368846 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:59368846G>A uc001noc.1 - 5 1514 c.1034C>T c.(1033-1035)TCT>TTT p.S345F OSBP_uc009ymr.1_5'Flank NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 345 lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CCCTTTGCCAGAGCAGCACTG 0.393 NaN 0 0 0 1 0 13 43 DAGLA 747 broad.mit.edu 37 11 61488339 61488339 + Missense_Mutation SNP A A C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:61488339A>C uc001nsa.2 + 3 395 c.284A>C c.(283-285)CAG>CCG p.Q95P NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 95 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) GACTCCATGCAGTACGTGCTC 0.542 NaN 0 0 0 1 0 20 44 AHNAK 79026 broad.mit.edu 37 11 62289440 62289440 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:62289440G>A uc001ntl.2 - 5 12749 c.12449C>T c.(12448-12450)TCT>TTT p.S4150F AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4150 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTTGGGCAGAGAAACGTCCAC 0.522 NaN 0 0 0 1 0 41 92 TUT1 64852 broad.mit.edu 37 11 62348892 62348892 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:62348892G>C uc001nto.2 - 3 707 c.669C>G c.(667-669)GCC>GCG p.A223A NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 185 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 CCTGCATCAGGGCCACCACTA 0.587 NaN 0 0 0 1 0 6 23 NXF1 10482 broad.mit.edu 37 11 62561884 62561884 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:62561884C>G uc001nvf.1 - 19 1742 c.1606G>C c.(1606-1608)GTG>CTG p.V536L TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.V579L NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 536 NTF2. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 GCATTCCGCACAAATAGCTCA 0.493 NaN 0 0 0 1 0 8 43 SLC22A8 9376 broad.mit.edu 37 11 62760912 62760912 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:62760912C>T uc001nwo.2 - 10 1649 c.1513G>A c.(1513-1515)GAA>AAA p.E505K SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.E505K|SLC22A8_uc009yom.2_Missense_Mutation_p.E382K|SLC22A8_uc010rmm.1_Missense_Mutation_p.E414K|SLC22A8_uc009yon.2_Missense_Mutation_p.E505K NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 505 Extracellular (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 TCCAGGTCTTCGATAGTCTCT 0.597 NaN 0 0 0 1 0 24 57 PLCB3 5331 broad.mit.edu 37 11 64026396 64026396 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:64026396C>G uc001nzb.2 + 12 1293 c.1293C>G c.(1291-1293)TCC>TCG p.S431S PLCB3_uc009ypg.1_Silent_p.S431S|PLCB3_uc009yph.1_Silent_p.S364S|PLCB3_uc009ypi.2_Silent_p.S431S NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 431 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 ACTGCCGCTCCATCTTTGGAG 0.637 NaN 0 0 0 1 0 9 21 NRXN2 9379 broad.mit.edu 37 11 64457929 64457929 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:64457929G>A uc001oar.2 - 6 1237 c.798C>T c.(796-798)TCC>TCT p.S266S NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_5'UTR NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCCCCCCCTCGGAGAACAGTA 0.647 NaN 0 0 0 1 0 14 9 ATG2A 23130 broad.mit.edu 37 11 64673042 64673042 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:64673042G>T uc001obx.2 - 24 3572 c.3457C>A c.(3457-3459)CTG>ATG p.L1153M ATG2A_uc001obw.2_5'Flank NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1153 protein binding ovary(1)|central_nervous_system(1) 2 TACCTGAGCAGGAAGGTGGAG 0.617 NaN 1 0 5.4927e-09 1 5.81883e-09 8 3 C11orf2 738 broad.mit.edu 37 11 64876860 64876860 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:64876860G>T uc001ocr.1 + 6 1592 c.1552G>T c.(1552-1554)GCC>TCC p.A518S TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.A394S NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 518 lipid transport|protein transport Golgi apparatus|integral to membrane 0 GAAGGGGGGTGCCACACCACC 0.617 NaN 1 0 3.59834e-05 1 3.70396e-05 6 36 SYVN1 84447 broad.mit.edu 37 11 64895935 64895935 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:64895935C>T uc001odb.2 - 16 1867 c.1773G>A c.(1771-1773)GAG>GAA p.E591E SYVN1_uc001odc.2_Silent_p.E590E|SYVN1_uc009yqc.2_Silent_p.E539E NM_172230 NP_757385 Q86TM6 SYVN1_HUMAN synoviolin 1 isoform b 591 Cytoplasmic (Potential). ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(1) 1 CCTCAGGCATCTCCTCTGTGC 0.642 NaN 0 0 0 1 0 16 29 KCNK7 10089 broad.mit.edu 37 11 65360568 65360568 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:65360568C>T uc001oes.2 - 3 1056 c.832G>A c.(832-834)GAG>AAG p.E278K KCNK7_uc001oeq.2_3'UTR|KCNK7_uc001oer.2_3'UTR|KCNK7_uc001oeu.2_3'UTR NM_033347 NP_203133 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 isoform 278 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 CCTTGGTCCTCAGCAGTCACA 0.627 NaN 0 0 0 1 0 4 16 SPTBN2 6712 broad.mit.edu 37 11 66458983 66458983 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:66458983G>C uc001ojd.2 - 26 5409 c.5337C>G c.(5335-5337)CTC>CTG p.L1779L NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1779 Spectrin 14. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 AGGCCTCGTTGAGACTGTCCT 0.672 NaN 0 0 0 1 0 8 29 SPTBN2 6712 broad.mit.edu 37 11 66460498 66460498 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:66460498G>C uc001ojd.2 - 24 5000 c.4928C>G c.(4927-4929)ACC>AGC p.T1643S NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1643 Spectrin 13. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CTGGTGGATGGTCTGCGCGTA 0.677 NaN 0 0 0 1 0 31 80 LRFN4 78999 broad.mit.edu 37 11 66625620 66625620 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:66625620C>T uc001ojr.2 + 1 745 c.405C>T c.(403-405)ATC>ATT p.I135I PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Silent_p.I135I|LRFN4_uc001ojs.2_Silent_p.I135I NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 135 LRR 4.|Extracellular (Potential). integral to membrane 0 TGGGCCGCATCGCGCCGGGAG 0.682 NaN 0 0 0 1 0 61 17 CORO1B 57175 broad.mit.edu 37 11 67207901 67207901 + Missense_Mutation SNP C C G rs149251927 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:67207901C>G uc001olj.1 - 6 802 c.766G>C c.(766-768)GAG>CAG p.E256Q PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.E256Q|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.E256Q NM_020441 NP_065174 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 256 WD 4. actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding large_intestine(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) ATGGGTTCCTCGAGGTTTTCC 0.622 NaN 0 0 0 1 0 8 20 ARAP1 116985 broad.mit.edu 37 11 72412771 72412771 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:72412771G>A uc001osu.2 - 16 2414 c.2225C>T c.(2224-2226)CCG>CTG p.P742L ARAP1_uc001osv.2_Missense_Mutation_p.P742L|ARAP1_uc001osr.2_Missense_Mutation_p.P502L|ARAP1_uc001oss.2_Missense_Mutation_p.P497L|ARAP1_uc009yth.2_Missense_Mutation_p.P436L|ARAP1_uc010rre.1_Missense_Mutation_p.P497L|ARAP1_uc001osw.1_Missense_Mutation_p.P30L NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 742 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 GCTCACGGTCGGCAGGACAAC 0.632 NaN 0 0 0 1 0 68 187 RNF169 254225 broad.mit.edu 37 11 74547165 74547165 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:74547165C>G uc001ovl.3 + 6 1530 c.1517C>G c.(1516-1518)TCT>TGT p.S506C XRRA1_uc001ovm.2_Intron NM_001098638 NP_001092108 Q8NCN4 RN169_HUMAN ring finger protein 169 506 zinc ion binding ovary(1) 1 CATTTCCCCTCTGTTAGCCAA 0.473 NaN 0 0 0 1 0 50 122 GRM5 2915 broad.mit.edu 37 11 88241803 88241803 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:88241803G>A uc001pcq.2 - 9 3796 c.3596C>T c.(3595-3597)ACT>ATT p.T1199I GRM5_uc009yvm.2_Missense_Mutation_p.T1167I NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 1199 Cytoplasmic (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TATGATAAGAGTGTCATATTT 0.602 NaN 0 0 0 1 0 8 18 NOX4 50507 broad.mit.edu 37 11 89133452 89133452 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:89133452G>A uc001pct.2 - 10 1181 c.942C>T c.(940-942)GTC>GTT p.V314V NOX4_uc009yvr.2_Silent_p.V289V|NOX4_uc001pcu.2_Silent_p.V240V|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Silent_p.V314V|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Silent_p.V148V|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Silent_p.V290V|NOX4_uc009yvq.2_Silent_p.V290V NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 314 FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) GATGACTCATGACCGAAATGA 0.433 NaN 0 0 0 1 0 12 54 GRIA4 2893 broad.mit.edu 37 11 105775959 105775959 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:105775959G>C uc001pix.2 + 9 1536 c.1090G>C c.(1090-1092)GAC>CAC p.D364H GRIA4_uc001piu.1_Missense_Mutation_p.D364H|GRIA4_uc001piw.2_Missense_Mutation_p.D364H|GRIA4_uc009yxk.1_Missense_Mutation_p.D364H NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 364 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TGTTCAGTTTGACCACTATGG 0.393 NaN 0 0 0 1 0 20 89 NPAT 4863 broad.mit.edu 37 11 108032032 108032032 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:108032032C>T uc001pjz.3 - 17 3883 c.3781G>A c.(3781-3783)GAT>AAT p.D1261N NPAT_uc010rvv.1_Missense_Mutation_p.D317N NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 1261 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TCACTACTATCAGCAAGCCTA 0.448 NaN 0 0 0 1 0 89 85 EXPH5 23086 broad.mit.edu 37 11 108384109 108384109 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:108384109C>T uc001pkk.2 - 6 2236 c.2125G>A c.(2125-2127)GAA>AAA p.E709K EXPH5_uc010rvy.1_Missense_Mutation_p.E521K|EXPH5_uc010rvz.1_Missense_Mutation_p.E553K|EXPH5_uc010rwa.1_Missense_Mutation_p.E633K NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 709 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTGTCTTCTTCTGAAATAGAT 0.413 NaN 0 0 0 1 0 22 54 DRD2 1813 broad.mit.edu 37 11 113286260 113286260 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:113286260G>A uc001pnz.2 - 4 927 c.606C>T c.(604-606)TTC>TTT p.F202F DRD2_uc010rwv.1_Silent_p.F201F|DRD2_uc001poa.3_Silent_p.F202F|DRD2_uc001pob.3_Silent_p.F202F|DRD2_uc009yyr.1_Silent_p.F202F NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 202 Helical; Name=5; (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GGGTGACAATGAAGGGCACGT 0.597 NaN 0 0 0 1 0 27 43 DSCAML1 57453 broad.mit.edu 37 11 117332172 117332172 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:117332172C>T uc001prh.1 - 18 3588 c.3586G>A c.(3586-3588)GAT>AAT p.D1196N NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1136 Fibronectin type-III 3.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TCACCCCCATCAACATAGAGG 0.602 NaN 0 0 0 1 0 27 44 AMICA1 120425 broad.mit.edu 37 11 118071280 118071280 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:118071280G>T uc001psk.2 - 7 994 c.820C>A c.(820-822)CAG>AAG p.Q274K AMICA1_uc001psg.2_Missense_Mutation_p.Q84K|AMICA1_uc001psh.2_Missense_Mutation_p.Q235K|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.Q264K|AMICA1_uc001psj.2_Missense_Mutation_p.Q263K|AMICA1_uc010rxw.1_Missense_Mutation_p.Q235K|AMICA1_uc010rxx.1_Missense_Mutation_p.Q274K|AMICA1_uc001psl.1_Missense_Mutation_p.Q230K NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 274 Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) ATCACCAACTGATTACCACCC 0.502 NaN 1 0 4.87955e-14 1 5.32458e-14 26 41 MLL 4297 broad.mit.edu 37 11 118363895 118363895 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:118363895G>A uc001pta.2 + 16 5142 c.5119G>A c.(5119-5121)GAT>AAT p.D1707N MLL_uc001ptb.2_Missense_Mutation_p.D1710N NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1707 Bromo; divergent. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GCAGCCTTTAGATCTAGAAGG 0.478 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 1 0 16 96 HYOU1 10525 broad.mit.edu 37 11 118923444 118923444 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:118923444C>G uc001puu.2 - 9 1085 c.892G>C c.(892-894)GAT>CAT p.D298H HYOU1_uc001put.2_Missense_Mutation_p.D263H|HYOU1_uc010ryu.1_Missense_Mutation_p.D318H|HYOU1_uc010ryv.1_Missense_Mutation_p.D187H|HYOU1_uc001pux.3_Missense_Mutation_p.D298H|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.D298H NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 298 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) TCCCGCACATCCTTTGCTCTC 0.612 NaN 0 0 0 1 0 8 23 ARHGEF12 23365 broad.mit.edu 37 11 120292558 120292558 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:120292558C>G uc001pxl.1 + 6 352 c.345C>G c.(343-345)ATC>ATG p.I115M ARHGEF12_uc009zat.2_Missense_Mutation_p.I96M|ARHGEF12_uc010rzn.1_Missense_Mutation_p.I12M|ARHGEF12_uc009zau.1_Missense_Mutation_p.I12M NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 115 PDZ. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ATCGAATCATCAAGGTAAGGA 0.333 NaN T MLL AML 0 0 0 1 0 12 52 OR8G2 26492 broad.mit.edu 37 11 124096005 124096005 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:124096005C>T uc010saf.1 + 1 608 c.608C>T c.(607-609)TCC>TTC p.S203F NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 203 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CTCTCCTGCTCCAGCACCTAC 0.423 NaN 0 0 0 1 0 45 247 APLP2 334 broad.mit.edu 37 11 129999042 129999042 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:129999042G>A uc010sby.1 + 10 1553 c.1396G>A c.(1396-1398)GAC>AAC p.D466N APLP2_uc001qfp.2_Missense_Mutation_p.D466N|APLP2_uc001qfq.2_Missense_Mutation_p.D410N|APLP2_uc010sbz.1_Missense_Mutation_p.D254N|APLP2_uc001qfr.2_Missense_Mutation_p.D232N|APLP2_uc001qfs.2_Missense_Mutation_p.D237N|APLP2_uc001qfv.2_Missense_Mutation_p.D357N NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 466 Extracellular (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TATGCTGAATGACCGCCGTCG 0.592 NaN 0 0 0 1 0 42 26 KDM5A 5927 broad.mit.edu 37 12 442723 442723 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:442723G>C uc001qif.1 - 12 1946 c.1583C>G c.(1582-1584)TCC>TGC p.S528C KDM5A_uc001qie.1_Missense_Mutation_p.S528C|KDM5A_uc010sdn.1_Missense_Mutation_p.S487C|KDM5A_uc010sdo.1_Missense_Mutation_p.S147C NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 528 JmjC. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 ATCAGGCTGGGATTCAAATAA 0.502 NaN T NUP98 AML 0 0 0 1 0 22 45 NOP2 4839 broad.mit.edu 37 12 6672897 6672897 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:6672897C>G uc001qpk.1 - 6 615 c.571G>C c.(571-573)GAG>CAG p.E191Q NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Missense_Mutation_p.E187Q|NOP2_uc001qpi.1_Missense_Mutation_p.E187Q|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.E224Q|NOP2_uc001qpm.1_Missense_Mutation_p.E191Q P46087 NOP2_HUMAN Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120. 191 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 ACTTCTTTCTCTTCCTCCTCG 0.547 NaN OREG0021630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 4 25 ING4 51147 broad.mit.edu 37 12 6761554 6761554 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:6761554G>C uc001qpw.3 - 6 572 c.531C>G c.(529-531)ACC>ACG p.T177T ING4_uc001qpv.3_Silent_p.T176T|ING4_uc001qpy.3_Silent_p.T173T|ING4_uc001qpx.3_Silent_p.T174T|ING4_uc009zes.2_Intron|ING4_uc009zet.2_Silent_p.T153T|ING4_uc009zeu.2_Intron|ING4_uc009zev.2_RNA NM_001127582 NP_001121054 Q9UNL4 ING4_HUMAN inhibitor of growth family, member 4 isoform 9 177 apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis histone acetyltransferase complex protein binding|transcription coactivator activity|zinc ion binding central_nervous_system(3)|ovary(1) 4 CACTGCCAAAGGTCACTGAGG 0.512 NaN 0 0 0 1 0 28 112 A2M 2 broad.mit.edu 37 12 9229519 9229519 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:9229519C>T uc001qvk.1 - 28 3478 c.3365G>A c.(3364-3366)CGC>CAC p.R1122H A2M_uc001qvj.1_Missense_Mutation_p.R164H|A2M_uc009zgk.1_Missense_Mutation_p.R972H NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1122 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) CAGGGCATTGCGGACAACAGG 0.502 NaN 0 0 0 1 0 31 63 PZP 5858 broad.mit.edu 37 12 9305844 9305844 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:9305844C>T uc001qvl.2 - 30 3899 c.3870G>A c.(3868-3870)CAG>CAA p.Q1290Q PZP_uc009zgl.2_Silent_p.Q1076Q NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TAGAAAAGGTCTGTGAATCCT 0.478 NaN 0 0 0 1 0 57 77 LOH12CR1 118426 broad.mit.edu 37 12 12588569 12588569 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:12588569G>C uc001ral.2 + 3 576 c.210G>C c.(208-210)TTG>TTC p.L70F LOH12CR1_uc009zhu.2_Missense_Mutation_p.L22F NM_058169 NP_477517 Q969J3 L12R1_HUMAN LOH1CR12 70 ovary(1) 1 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.0205) AAGGGCTATTGAGTGGCCAGA 0.403 NaN 0 0 0 1 0 12 52 LRMP 4033 broad.mit.edu 37 12 25260856 25260856 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:25260856G>C uc001rgh.2 + 21 2396 c.1362G>C c.(1360-1362)TTG>TTC p.L454F LRMP_uc010sja.1_Missense_Mutation_p.L454F|LRMP_uc010sjb.1_Missense_Mutation_p.L401F|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.L454F|LRMP_uc010sjd.1_Missense_Mutation_p.L401F NM_006152 NP_006143 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 510 Helical; Anchor for type IV membrane protein; (Potential). vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TTGCAGCTTTGATGAGCTTCC 0.473 NaN 0 0 0 1 0 32 104 RASSF8 11228 broad.mit.edu 37 12 26217937 26217937 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:26217937G>C uc001rgx.2 + 3 831 c.610G>C c.(610-612)GAG>CAG p.E204Q RASSF8_uc001rgy.2_Missense_Mutation_p.E204Q|RASSF8_uc001rgz.2_Missense_Mutation_p.E204Q|RASSF8_uc009zjd.1_Missense_Mutation_p.E204Q|RASSF8_uc009zje.1_Missense_Mutation_p.E204Q NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 204 Glu-rich. signal transduction 0 Colorectal(261;0.0847) CAACCTTGAAGAGGAAATTGT 0.363 NaN 0 0 0 1 0 7 58 STK38L 23012 broad.mit.edu 37 12 27455101 27455101 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:27455101G>C uc001rhr.2 + 3 365 c.166G>C c.(166-168)GAA>CAA p.E56Q STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Missense_Mutation_p.E4Q NM_015000 NP_055815 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 56 intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1) 5 Colorectal(261;0.0847) CATGGAAGAAGAAGGATTAGC 0.299 NaN 0 0 0 1 0 47 72 PPFIBP1 8496 broad.mit.edu 37 12 27788022 27788022 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:27788022C>G uc001ric.1 + 4 621 c.244C>G c.(244-246)CTT>GTT p.L82V PPFIBP1_uc001rhy.1_Missense_Mutation_p.L82V|PPFIBP1_uc001rhz.1_Missense_Mutation_p.L82V|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Missense_Mutation_p.L82V|PPFIBP1_uc001ria.2_Missense_Mutation_p.L82V|PPFIBP1_uc001rid.1_Intron NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 82 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) AGCAGAAACGCTTGTTGAATG 0.413 NaN 0 0 0 1 0 23 53 IRAK4 51135 broad.mit.edu 37 12 44180267 44180267 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:44180267G>C uc001rnu.3 + 12 1384 c.1254G>C c.(1252-1254)ATG>ATC p.M418I IRAK4_uc001rnt.3_Missense_Mutation_p.M418I|IRAK4_uc001rnx.3_Missense_Mutation_p.M294I|IRAK4_uc001rny.3_Missense_Mutation_p.M294I|IRAK4_uc010sky.1_Missense_Mutation_p.M294I|IRAK4_uc001rnv.3_Missense_Mutation_p.M294I|IRAK4_uc001rnw.3_Missense_Mutation_p.M294I NM_001114182 NP_001107654 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 418 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) ATAAAAAGATGAATGATGCTG 0.303 NaN 0 0 0 1 0 18 75 SLC38A2 54407 broad.mit.edu 37 12 46764968 46764968 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:46764968G>A uc001rpg.2 - 2 549 c.109C>T c.(109-111)CTG>TTG p.L37L SLC38A2_uc001rph.2_5'UTR NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 37 Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) CACCTTTTCAGAGCAGCTTGC 0.488 NaN 0 0 0 1 0 8 127 AMIGO2 347902 broad.mit.edu 37 12 47472633 47472633 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:47472633G>T uc001rpm.2 - 3 808 c.153C>A c.(151-153)ATC>ATA p.I51I FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.I51I|AMIGO2_uc001rpl.2_Silent_p.I51I NM_001143668 NP_001137140 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 51 Extracellular (Potential).|LRRNT. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane ovary(1)|skin(1) 2 Renal(347;0.138)|Lung SC(27;0.192) TGCAGCTGACGATGTCAGTGG 0.542 NaN 1 0 1.56442e-22 1 1.75029e-22 33 62 DDX23 9416 broad.mit.edu 37 12 49226345 49226345 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:49226345G>A uc001rsm.2 - 14 1906 c.1815C>T c.(1813-1815)TTC>TTT p.F605F NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 605 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 TGGTGGCCGTGAACATGACTG 0.587 NaN 0 0 0 1 0 9 41 MLL2 8085 broad.mit.edu 37 12 49424126 49424126 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:49424126C>T uc001rta.3 - 42 13936 c.13936G>A c.(13936-13938)GAA>AAA p.E4646K NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4646 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCCAGCTCTTCAGATGGGGTG 0.612 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 1 0 5 6 NCKAP5L 57701 broad.mit.edu 37 12 50195682 50195682 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:50195682C>T uc009zlk.2 - 6 502 c.300G>A c.(298-300)CTG>CTA p.L100L NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 96 Potential. central_nervous_system(1) 1 ACAGGGCACTCAGCATCTGGT 0.592 NaN 0 0 0 1 0 15 66 LIMA1 51474 broad.mit.edu 37 12 50598415 50598415 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:50598415G>C uc001rwj.3 - 6 958 c.784C>G c.(784-786)CTC>GTC p.L262V LIMA1_uc001rwg.3_5'Flank|LIMA1_uc001rwh.3_Missense_Mutation_p.L102V|LIMA1_uc001rwi.3_Missense_Mutation_p.L102V|LIMA1_uc001rwk.3_Missense_Mutation_p.L262V|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 262 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 GTTTCTGAGAGGCGTGGAAGT 0.403 NaN 0 0 0 1 0 54 62 KRT84 3890 broad.mit.edu 37 12 52774948 52774948 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:52774948G>A uc001sah.1 - 6 1167 c.1119C>T c.(1117-1119)AAC>AAT p.N373N NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 373 Rod.|Coil 2. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGTTGCGCAGGTTGTCACAGT 0.557 NaN 0 0 0 1 0 40 144 KRT84 3890 broad.mit.edu 37 12 52776813 52776813 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:52776813C>G uc001sah.1 - 3 840 c.792G>C c.(790-792)GAG>GAC p.E264D NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 264 Rod.|Coil 1B. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) CAAACTCATTCTCAGCATTGG 0.502 NaN 0 0 0 1 0 18 59 KRT4 3851 broad.mit.edu 37 12 53204577 53204577 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:53204577C>T uc001saz.2 - 3 1194 c.923G>A c.(922-924)CGC>CAC p.R308H NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 234 keratin filament structural molecule activity ovary(4)|skin(2) 6 GGCTGCTGTGCGTTTGTTGAT 0.517 NaN 0 0 0 1 0 16 53 SP7 121340 broad.mit.edu 37 12 53723022 53723022 + Missense_Mutation SNP A A T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:53723022A>T uc001sct.2 - 2 311 c.204T>A c.(202-204)TTT>TTA p.F68L SP7_uc001scu.2_Missense_Mutation_p.F50L|SP7_uc001scv.2_Missense_Mutation_p.F68L NM_152860 NP_690599 Q8TDD2 SP7_HUMAN osterix 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAGTGCTTGTAAAGGGGGCTG 0.542 NaN 0 0 0 1 0 30 139 ATF7 11016 broad.mit.edu 37 12 53918472 53918472 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:53918472C>T uc001sdy.2 - 9 1055 c.1034G>A c.(1033-1035)CGA>CAA p.R345Q ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R334Q|ATF7_uc010sol.1_Missense_Mutation_p.R313Q NM_001130059 NP_001123531 P17544 ATF7_HUMAN activating transcription factor 7 isoform 1 345 Basic motif.|Essential for binding adenovirus 2 E1A. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 GCGCTGCCGTCGCTCATCTGG 0.622 NaN 0 0 0 1 0 8 23 DNAJC14 85406 broad.mit.edu 37 12 56188173 56188173 + Splice_Site SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:56188173T>C uc001shu.1 - 12 2483 c.2427_splice c.e12-1 p.R809_splice SARNP_uc009zoa.2_Splice_Site|SARNP_uc001shs.3_Splice_Site|SARNP_uc001sht.2_Splice_Site_p.R126_splice|SARNP_uc001shv.3_Intron NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 ATCCCAAACCTGAAGAAGGAA 0.358 NaN 0 0 0 1 0 69 234 DNAJC14 85406 broad.mit.edu 37 12 56215880 56215880 + Missense_Mutation SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:56215880A>G uc001shx.1 - 7 2194 c.1990T>C c.(1990-1992)TTT>CTT p.F664L DNAJC14_uc001shu.1_Missense_Mutation_p.F664L|DNAJC14_uc009zob.1_Missense_Mutation_p.F664L NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 664 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 GGAGCTGCAAAGAAGTTCCCA 0.567 NaN 0 0 0 1 0 20 56 SILV 6490 broad.mit.edu 37 12 56351734 56351734 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:56351734G>C uc001sip.2 - 5 635 c.604C>G c.(604-606)CAT>GAT p.H202D SILV_uc001siq.2_Missense_Mutation_p.H202D|SILV_uc010spx.1_Missense_Mutation_p.H116D|SILV_uc001sir.2_Missense_Mutation_p.H202D NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 202 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 GAGCTGGAATGAGCAAGAGGC 0.572 NaN 0 0 0 1 0 31 50 SILV 6490 broad.mit.edu 37 12 56351767 56351767 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:56351767G>A uc001sip.2 - 5 602 c.571C>T c.(571-573)CGC>TGC p.R191C SILV_uc001siq.2_Missense_Mutation_p.R191C|SILV_uc010spx.1_Missense_Mutation_p.R105C|SILV_uc001sir.2_Missense_Mutation_p.R191C NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 191 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 GATCCCCGGCGATGGTAGACA 0.572 NaN 0 0 0 1 0 27 48 SMARCC2 6601 broad.mit.edu 37 12 56565672 56565672 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:56565672C>T uc001skb.2 - 20 1989 c.1883G>A c.(1882-1884)GGA>GAA p.G628E SMARCC2_uc001skd.2_Missense_Mutation_p.G659E|SMARCC2_uc001ska.2_Missense_Mutation_p.G659E|SMARCC2_uc001skc.2_Missense_Mutation_p.G658E|SMARCC2_uc010sqf.1_Missense_Mutation_p.G548E NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 628 SANT. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGTGCGGCTTCCCACATGCTC 0.527 NaN 0 0 0 1 0 22 25 TIMELESS 8914 broad.mit.edu 37 12 56817644 56817644 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:56817644G>C uc001slf.2 - 16 2071 c.1903C>G c.(1903-1905)CAA>GAA p.Q635E NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 635 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 GAAATGTCTTGAGAGCCAAAC 0.473 NaN 0 0 0 1 0 32 52 TIMELESS 8914 broad.mit.edu 37 12 56818562 56818562 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:56818562G>C uc001slf.2 - 15 2020 c.1852C>G c.(1852-1854)CTC>GTC p.L618V NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 618 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 GACCTCAGGAGAGTCAGGGCC 0.597 NaN 0 0 0 1 0 38 57 DPY19L2 283417 broad.mit.edu 37 12 64061860 64061860 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:64061860G>C uc001srp.1 - 1 495 c.314C>G c.(313-315)TCC>TGC p.S105C DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 105 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GGTTCTGCTGGAGAACCGCCG 0.592 NaN 0 0 0 1 0 45 51 HELB 92797 broad.mit.edu 37 12 66698778 66698778 + Nonsense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:66698778C>G uc001sti.2 + 2 483 c.455C>G c.(454-456)TCA>TGA p.S152* HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 152 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AAGGAGGTATCAAACTACAAA 0.358 NaN 0 0 0 1 0 22 48 CCT2 10576 broad.mit.edu 37 12 69991012 69991012 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:69991012G>T uc001svb.1 + 11 1153 c.1059G>T c.(1057-1059)ATG>ATT p.M353I CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.M353I|CCT2_uc010stl.1_Missense_Mutation_p.M306I NM_006431 NP_006422 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 353 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AGGAAGTCATGATTGGAGAAG 0.413 NaN 1 0 7.63117e-38 1 8.63282e-38 83 108 ZFC3H1 196441 broad.mit.edu 37 12 72017272 72017272 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:72017272G>C uc001swo.2 - 24 4971 c.4612C>G c.(4612-4614)CTC>GTC p.L1538V NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 1538 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 TTTGAAGGGAGAATGTTGAAT 0.343 NaN 0 0 0 1 0 7 119 BBS10 79738 broad.mit.edu 37 12 76740913 76740913 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:76740913C>G uc001syd.1 - 2 936 c.852G>C c.(850-852)CAG>CAC p.Q284H NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 284 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding ovary(1)|skin(1) 2 ATTGAGATGTCTGAAACTGTG 0.348 NaN Bardet-Biedl_syndrome 0 0 0 1 0 16 20 SYT1 6857 broad.mit.edu 37 12 79837968 79837968 + Silent SNP A A C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:79837968A>C uc001sys.2 + 11 1715 c.1044A>C c.(1042-1044)GTA>GTC p.V348V SYT1_uc001syt.2_Silent_p.V348V|SYT1_uc001syu.2_Silent_p.V345V|SYT1_uc001syv.2_Silent_p.V348V NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 348 Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 2. detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 GCTTTGAAGTACCTTTTGAAC 0.353 NaN 0 0 0 1 0 27 183 PPP1R12A 4659 broad.mit.edu 37 12 80266706 80266706 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:80266706C>G uc001syz.2 - 2 517 c.250G>C c.(250-252)GAC>CAC p.D84H PPP1R12A_uc010suc.1_5'UTR|PPP1R12A_uc001sza.2_Missense_Mutation_p.D84H|PPP1R12A_uc010sud.1_Missense_Mutation_p.D84H|PPP1R12A_uc001szb.2_Missense_Mutation_p.D84H|PPP1R12A_uc001szc.2_Missense_Mutation_p.D84H NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 84 ANK 2. contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 TCAACATTGTCATCAATGCAA 0.343 NaN 0 0 0 1 0 4 30 ACSS3 79611 broad.mit.edu 37 12 81647169 81647169 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:81647169C>G uc001szl.1 + 14 1894 c.1803C>G c.(1801-1803)CTC>CTG p.L601L ACSS3_uc001szm.1_Silent_p.L600L|ACSS3_uc001szn.1_Silent_p.L283L NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 601 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CCTTAGCACTCTGTGTATTGA 0.428 NaN 0 0 0 1 0 37 161 LRRIQ1 84125 broad.mit.edu 37 12 85449499 85449499 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:85449499C>A uc001tac.2 + 8 1039 c.928C>A c.(928-930)CAA>AAA p.Q310K LRRIQ1_uc001tab.1_Missense_Mutation_p.Q310K|LRRIQ1_uc001taa.1_Missense_Mutation_p.Q285K NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 310 IQ 1.|Glu-rich. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TATTAAAGAGCAAATTGAAAG 0.154 NaN 1 0 5.9392e-07 1 6.22056e-07 6 35 LRRIQ1 84125 broad.mit.edu 37 12 85517896 85517896 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:85517896G>A uc001tac.2 + 17 3717 c.3606G>A c.(3604-3606)AAG>AAA p.K1202K LRRIQ1_uc001tab.1_Silent_p.K1202K NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1202 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) ATTATTTTAAGAAATTGATGA 0.333 NaN 0 0 0 1 0 12 54 MGAT4C 25834 broad.mit.edu 37 12 86374166 86374166 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:86374166C>A uc001tai.3 - 8 1588 c.338G>T c.(337-339)GGA>GTA p.G113V MGAT4C_uc001tal.3_Missense_Mutation_p.G113V|MGAT4C_uc001taj.3_Missense_Mutation_p.G113V|MGAT4C_uc001tak.3_Missense_Mutation_p.G113V|MGAT4C_uc010sum.1_Missense_Mutation_p.G137V|MGAT4C_uc001tah.3_Missense_Mutation_p.G113V NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 113 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 TAAATAGTTTCCTTTTTTTCG 0.328 NaN 1 0 8.34094e-07 1 8.70917e-07 21 21 NEDD1 121441 broad.mit.edu 37 12 97331111 97331111 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:97331111C>G uc001teu.3 + 9 1396 c.1057C>G c.(1057-1059)CTA>GTA p.L353V NEDD1_uc001tev.3_Missense_Mutation_p.L353V|NEDD1_uc010svc.1_Missense_Mutation_p.L264V|NEDD1_uc001tew.2_Missense_Mutation_p.L360V|NEDD1_uc001tex.2_Missense_Mutation_p.L264V NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 353 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 TGCCACAGTTCTACCACAACC 0.428 NaN 0 0 0 1 0 20 114 UTP20 27340 broad.mit.edu 37 12 101776903 101776903 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:101776903G>C uc001tia.1 + 59 7897 c.7741G>C c.(7741-7743)GAC>CAC p.D2581H NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2581 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 GATAAAAGAAGACCTGGAAGA 0.418 NaN 0 0 0 1 0 21 31 CCDC53 51019 broad.mit.edu 37 12 102433677 102433677 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:102433677C>A uc010svw.1 - 5 563 c.404G>T c.(403-405)AGA>ATA p.R135I CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.R134I NM_016053 NP_057137 Q9Y3C0 CCD53_HUMAN coiled-coil domain containing 53 135 WASH complex protein binding 0 TCTGGCATATCTTGGATCCTT 0.403 NaN 1 0 8.72158e-25 1 9.81178e-25 60 67 STAB2 55576 broad.mit.edu 37 12 104049332 104049332 + Silent SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:104049332C>A uc001tjw.2 + 15 1893 c.1707C>A c.(1705-1707)GGC>GGA p.G569G NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 569 Extracellular (Potential).|FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TGAAGGACGGCACTCTCGATT 0.453 NaN 1 0 1.5842e-08 1 1.67477e-08 13 40 STAB2 55576 broad.mit.edu 37 12 104142822 104142822 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:104142822G>A uc001tjw.2 + 59 6512 c.6326G>A c.(6325-6327)AGC>AAC p.S2109N STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2109 Extracellular (Potential).|EGF-like 16. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GTCTCCTGCAGCTGCCAGAAG 0.587 NaN 0 0 0 1 0 22 62 RIC8B 55188 broad.mit.edu 37 12 107209010 107209010 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:107209010G>C uc001tlx.2 + 3 794 c.669G>C c.(667-669)GAG>GAC p.E223D RIC8B_uc001tlw.2_Missense_Mutation_p.E223D|RIC8B_uc001tly.2_Missense_Mutation_p.E183D|RIC8B_uc001tlz.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 223 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 CACCTCAGGAGACAGACTGTG 0.478 NaN 0 0 0 1 0 47 72 WSCD2 9671 broad.mit.edu 37 12 108603968 108603968 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:108603968G>T uc001tms.2 + 4 1312 c.568G>T c.(568-570)GTG>TTG p.V190L WSCD2_uc001tmt.2_Missense_Mutation_p.V190L NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 190 WSC 1. integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 GGCGACGAACGTGAGCGAGGC 0.672 NaN 1 0 0.115264 1 0.115264 3 24 WSB2 55884 broad.mit.edu 37 12 118476129 118476129 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:118476129G>C uc001twr.2 - 5 722 c.624C>G c.(622-624)GAC>GAG p.D208E WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_5'UTR|WSB2_uc009zws.1_Missense_Mutation_p.D208E NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN WD SOCS-box protein 2 208 WD 3. intracellular signal transduction ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCATGCTGCAGTCTGGGGAGA 0.512 NaN 0 0 0 1 0 14 25 SRRM4 84530 broad.mit.edu 37 12 119559877 119559877 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:119559877C>A uc001txa.1 + 6 759 c.467C>A c.(466-468)TCC>TAC p.S156Y NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 156 Ser-rich.|Lys-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 TTGTTTAGCTCCTCTAGCCCA 0.378 NaN 1 0 0.000151284 1 0.000155097 12 28 GCN1L1 10985 broad.mit.edu 37 12 120576567 120576567 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:120576567C>T uc001txo.2 - 46 6101 c.6088G>A c.(6088-6090)GAG>AAG p.E2030K NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2030 HEAT 17. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCAGCTGCTCGAAAGTCTTG 0.547 NaN 0 0 0 1 0 28 102 PLA2G1B 5319 broad.mit.edu 37 12 120759997 120759997 + Nonstop_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:120759997C>A uc001tyd.2 - 4 482 c.446G>T c.(445-447)TGA>TTA p.*149L PLA2G1B_uc009zwx.2_3'UTR NM_000928 NP_000919 P04054 PA21B_HUMAN phospholipase A2 group IB precursor 149 actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter extracellular space bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding skin(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGTGATATTCAACTCTGACA 0.423 NaN 1 0 7.82978e-24 1 8.78906e-24 62 181 POP5 51367 broad.mit.edu 37 12 121018922 121018922 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:121018922G>A uc001tys.2 - 2 191 c.159C>T c.(157-159)TTC>TTT p.F53F POP5_uc001tyt.2_Silent_p.F53F NM_015918 NP_057002 Q969H6 POP5_HUMAN processing of precursor 5 isoform a 53 tRNA processing protein binding|ribonuclease P activity 0 all_neural(191;0.077)|Medulloblastoma(191;0.0922) TTGCACCCGCGAAGCCGATGG 0.677 NaN 0 0 0 1 0 11 61 WDR66 144406 broad.mit.edu 37 12 122392093 122392093 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:122392093C>T uc009zxk.2 + 10 1530 c.1388C>T c.(1387-1389)TCA>TTA p.S463L NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 463 WD 4. calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CAAATACTCTCAGCCACAATG 0.438 NaN 0 0 0 1 0 36 69 VPS33A 65082 broad.mit.edu 37 12 122750907 122750907 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:122750907C>T uc001ucd.2 - 1 162 c.49G>A c.(49-51)GAG>AAG p.E17K VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.E17K NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 17 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CGCACCGCCTCGCGCAACACG 0.677 NaN 0 0 0 1 0 8 36 CLIP1 6249 broad.mit.edu 37 12 122825453 122825453 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:122825453G>C uc001ucg.1 - 10 2404 c.2298C>G c.(2296-2298)CTC>CTG p.L766L CLIP1_uc001uch.1_Silent_p.L755L|CLIP1_uc001uci.1_Silent_p.L720L|CLIP1_uc001ucj.1_Intron NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 766 Potential. L -> P (in Ref. 3; AAI14214). mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CAGTAGCCTTGAGCTGTGATG 0.408 NaN 0 0 0 1 0 52 108 DNAH10 196385 broad.mit.edu 37 12 124315201 124315201 + Silent SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:124315201C>A uc001uft.3 + 25 4171 c.4146C>A c.(4144-4146)CTC>CTA p.L1382L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1382 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAGATGTTCTCAATGAGATTG 0.368 NaN 1 0 7.93312e-07 1 8.29186e-07 13 19 SCARB1 949 broad.mit.edu 37 12 125284769 125284769 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr12:125284769G>T uc001ugo.3 - 8 1282 c.1029C>A c.(1027-1029)TCC>TCA p.S343S SCARB1_uc001ugn.3_Silent_p.S343S|SCARB1_uc001ugm.3_Silent_p.S343S|SCARB1_uc010tbd.1_Silent_p.S343S|SCARB1_uc010tbe.1_Silent_p.S302S|SCARB1_uc001ugp.3_Silent_p.S343S NM_005505 NP_005496 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 isoform 1 343 Extracellular (Potential). adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity kidney(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) AGTGAGGATGGGAGAGAAACA 0.602 NaN 1 0 5.16669e-11 1 5.56034e-11 11 32 TPTE2 93492 broad.mit.edu 37 13 20006667 20006667 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:20006667G>C uc001umd.2 - 17 1379 c.1168C>G c.(1168-1170)CTC>GTC p.L390V TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.L279V|TPTE2_uc001ume.2_Missense_Mutation_p.L313V|TPTE2_uc009zzm.2_Missense_Mutation_p.L61V|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.L61V NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 390 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CTTGGAGGGAGATTCCAGTTG 0.358 NaN 0 0 0 1 0 6 24 SACS 26278 broad.mit.edu 37 13 23930039 23930039 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:23930039T>C uc001uon.2 - 8 1301 c.712A>G c.(712-714)AAA>GAA p.K238E SACS_uc001uoo.2_Missense_Mutation_p.K91E|SACS_uc001uop.1_Missense_Mutation_p.K25E|SACS_uc001uoq.1_Missense_Mutation_p.K91E NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 238 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTAATTTCTTTGCTGTCATCT 0.388 NaN 0 0 0 1 0 63 3 FAM123A 219287 broad.mit.edu 37 13 25745097 25745097 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:25745097C>T uc001uqb.2 - 1 761 c.661G>A c.(661-663)GGG>AGG p.G221R FAM123A_uc001uqa.2_Missense_Mutation_p.G221R|FAM123A_uc001uqc.2_Missense_Mutation_p.G221R NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 221 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAgccgcccccgggcgcgcgc 0.582 NaN 0 0 0 1 0 7 1 KBTBD7 84078 broad.mit.edu 37 13 41766848 41766848 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:41766848G>A uc001uxw.1 - 1 1855 c.1546C>T c.(1546-1548)CAG>TAG p.Q516* uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 516 Kelch 3. protein binding ovary(1) 1 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) CATGCTTCCTGAAAGTCACTA 0.428 NaN 0 0 0 1 0 82 11 C13orf18 80183 broad.mit.edu 37 13 46946326 46946326 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:46946326G>A uc010acl.2 - 3 890 c.285C>T c.(283-285)CTC>CTT p.L95L C13orf18_uc001vbf.3_Silent_p.L28L|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_5'UTR|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Silent_p.L95L|C13orf18_uc001vbh.3_Silent_p.L95L|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Silent_p.L95L|C13orf18_uc010tga.1_Silent_p.L28L NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 95 Ser-rich. 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) GGGAGTCCCCGAGGCACGAAG 0.582 NaN 0 0 0 1 0 12 35 PCDH17 27253 broad.mit.edu 37 13 58207298 58207298 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:58207298G>A uc001vhq.1 + 1 1510 c.618G>A c.(616-618)CAG>CAA p.Q206Q PCDH17_uc010aec.1_Silent_p.Q206Q NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 206 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCGAGCAACAGAATCACCATA 0.592 NaN 0 0 0 1 0 14 21 OXGR1 27199 broad.mit.edu 37 13 97639537 97639537 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:97639537G>A uc001vmx.1 - 4 721 c.477C>T c.(475-477)ATC>ATT p.I159I OXGR1_uc010afr.1_Silent_p.I159I NM_080818 NP_543008 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 159 Helical; Name=4; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) CCAGTGAAATGATCCACACCA 0.478 NaN 0 0 0 1 0 4 46 MBNL2 10150 broad.mit.edu 37 13 98043621 98043621 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:98043621C>T uc010aft.2 + 8 1856 c.1040C>T c.(1039-1041)TCT>TTT p.S347F MBNL2_uc001vmz.2_3'UTR|MBNL2_uc001vna.2_Missense_Mutation_p.S335F|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Missense_Mutation_p.S180F NM_144778 NP_659002 Q5VZF2 MBNL2_HUMAN muscleblind-like 2 isoform 1 347 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding 0 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) TGCCAAGAATCTGCATTGAGA 0.343 NaN 0 0 0 1 0 30 56 DOCK9 23348 broad.mit.edu 37 13 99537285 99537285 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:99537285G>A uc001vnt.2 - 21 2380 c.2325C>T c.(2323-2325)ATC>ATT p.I775I DOCK9_uc001vnw.2_Silent_p.I774I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.I775I|DOCK9_uc010tis.1_Silent_p.I774I|DOCK9_uc010tit.1_Silent_p.I775I|DOCK9_uc010afu.1_Silent_p.I621I NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 775 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCGAGACCGGGATGTGCTGCT 0.512 NaN 0 0 0 1 0 10 9 CLYBL 171425 broad.mit.edu 37 13 100518572 100518572 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:100518572T>C uc001vok.2 + 6 727 c.713T>C c.(712-714)CTC>CCC p.L238P CLYBL_uc010tix.1_3'UTR|CLYBL_uc010tiy.1_Missense_Mutation_p.L204P NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN citrate lyase beta like precursor 238 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCCTTTGGTCTCCAAGCCATA 0.473 NaN 0 0 0 1 0 21 67 NALCN 259232 broad.mit.edu 37 13 102051408 102051408 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:102051408G>A uc001vox.1 - 2 259 c.70C>T c.(70-72)CTG>TTG p.L24L NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Silent_p.L24L|NALCN_uc001vpa.2_Silent_p.L24L NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 24 Cytoplasmic (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) TTATCCGACAGAGACTCATCA 0.443 NaN 0 0 0 1 0 24 44 SLC10A2 6555 broad.mit.edu 37 13 103718286 103718286 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:103718286C>T uc001vpy.3 - 1 911 c.314G>A c.(313-315)TGC>TAC p.C105Y NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 105 Extracellular (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TCCAGGGCAGCATCCTATAAT 0.512 NaN 0 0 0 1 0 67 6 IRS2 8660 broad.mit.edu 37 13 110434606 110434606 + Silent SNP T T G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr13:110434606T>G uc001vqv.2 - 1 4309 c.3795A>C c.(3793-3795)CCA>CCC p.P1265P NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1265 Poly-Pro. fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) gcggctggggtggcagcCCGG 0.512 NaN 0 0 0 1 0 8 6 TEP1 7011 broad.mit.edu 37 14 20856168 20856168 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:20856168G>C uc001vxe.2 - 18 2620 c.2580C>G c.(2578-2580)GAC>GAG p.D860E TEP1_uc010ahk.2_Missense_Mutation_p.D210E|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.D752E NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 860 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGAATATTTTGTCCATTTGGC 0.507 NaN 0 0 0 1 0 14 18 RNF31 55072 broad.mit.edu 37 14 24617000 24617001 + Missense_Mutation DNP GG GG AA TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:24617000_24617001GG>AA uc001wmn.1 + 1 342_343 c.93_94GG>AA c.(91-96)CTGGAG>CTAAAG p.E32K PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Intron|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 32 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) CGTTTTCCCTGGAGCAGCTCCG 0.703 NaN 0 0 0 1 0 2 0 RNF31 55072 broad.mit.edu 37 14 24619469 24619469 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:24619469G>A uc001wmn.1 + 7 1258 c.1009G>A c.(1009-1011)GAG>AAG p.E337K RNF31_uc001wml.1_Missense_Mutation_p.E186K|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.E152K|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 337 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) GTTGGGAACTGAGGGTCCCCA 0.602 NaN 0 0 0 1 0 36 2 RNF31 55072 broad.mit.edu 37 14 24619594 24619594 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:24619594G>A uc001wmn.1 + 7 1383 c.1134G>A c.(1132-1134)CTG>CTA p.L378L RNF31_uc001wml.1_Silent_p.L227L|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Silent_p.L193L|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 378 RanBP2-type 2.|Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) GACCTCGGCTGGCCCAGCCTC 0.567 NaN 0 0 0 1 0 53 4 RNF31 55072 broad.mit.edu 37 14 24620038 24620038 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:24620038G>A uc001wmn.1 + 8 1678 c.1429G>A c.(1429-1431)GAG>AAG p.E477K RNF31_uc001wml.1_Missense_Mutation_p.E326K|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.E292K|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 477 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) TGGAGATCCTGAGAAGCAGCG 0.632 NaN 0 0 0 1 0 28 1 FOXG1 2290 broad.mit.edu 37 14 29237037 29237037 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:29237037C>G uc001wqe.2 + 1 751 c.552C>G c.(550-552)TTC>TTG p.F184L NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 184 Fork-head. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) AGCCGCCGTTCAGCTACAACG 0.353 NaN 0 0 0 1 0 20 1 HECTD1 25831 broad.mit.edu 37 14 31598292 31598292 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:31598292G>C uc001wrc.1 - 25 4774 c.4285C>G c.(4285-4287)CTT>GTT p.L1429V HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.L897V NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1429 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GCAGATGAAAGAACAACAATT 0.453 NaN 0 0 0 1 0 36 55 FANCM 57697 broad.mit.edu 37 14 45668041 45668041 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:45668041G>A uc001wwd.3 + 22 6010 c.5911G>A c.(5911-5913)GAG>AAG p.E1971K FANCM_uc010anf.2_Missense_Mutation_p.E1945K|FANCM_uc001wwe.3_Missense_Mutation_p.E1507K|FANCM_uc010ang.2_Missense_Mutation_p.E1220K NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1971 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TAATAAAAGTGAGGCACTCCA 0.348 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 1 0 31 5 CNIH 10175 broad.mit.edu 37 14 54898890 54898890 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:54898890G>C uc001xat.1 - 3 302 c.199C>G c.(199-201)CTT>GTT p.L67V CNIH_uc001xav.1_Missense_Mutation_p.L67V NM_005776 NP_005767 O95406 CNIH_HUMAN cornichon-like 67 Helical; (Potential). immune response|intracellular signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane 0 GBM - Glioblastoma multiforme(112;0.00341) GCTGCACAAAGAAACATGACA 0.388 NaN 0 0 0 1 0 3 2 C14orf149 112849 broad.mit.edu 37 14 59950883 59950883 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:59950883C>T uc001xee.1 - 1 191 c.152G>A c.(151-153)CGG>CAG p.R51Q C14orf149_uc010trx.1_Missense_Mutation_p.R51Q|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank NM_144581 NP_653182 Q96EM0 PRCM_HUMAN proline racemase-like 51 proline racemase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.14) L-Proline(DB00172) CATGTAGCGCCGCTTGGCCAG 0.701 NaN OREG0022712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 5 6 PRKCH 5583 broad.mit.edu 37 14 61995799 61995799 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:61995799G>C uc001xfn.2 + 11 1745 c.1440G>C c.(1438-1440)CTG>CTC p.L480L PRKCH_uc010tsa.1_Silent_p.L319L|PRKCH_uc010tsb.1_Silent_p.L48L NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 480 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TCAGAGATCTGAAACTGGACA 0.453 NaN 0 0 0 1 0 36 2 SYNE2 23224 broad.mit.edu 37 14 64467418 64467418 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:64467418C>T uc001xgm.2 + 28 3849 c.3619C>T c.(3619-3621)CAG>TAG p.Q1207* SYNE2_uc001xgl.2_Nonsense_Mutation_p.Q1207* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1207 Cytoplasmic (Potential).|Potential. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAGAGAGCTTCAGATGACTCT 0.294 NaN 0 0 0 1 0 17 29 C14orf45 80127 broad.mit.edu 37 14 74514682 74514682 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:74514682C>T uc010tup.1 + 7 820 c.697C>T c.(697-699)CAG>TAG p.Q233* C14orf45_uc001xpm.1_RNA NM_025057 NP_079333 Q8ND07 CN045_HUMAN hypothetical protein LOC80127 233 0 BRCA - Breast invasive adenocarcinoma(234;0.00351) TGATTATCTTCAGAAAGCTCT 0.363 NaN 0 0 0 1 0 12 17 KIAA0317 9870 broad.mit.edu 37 14 75130693 75130693 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:75130693G>A uc001xqb.2 - 19 2783 c.2278C>T c.(2278-2280)CAG>TAG p.Q760* KIAA0317_uc010tut.1_Nonsense_Mutation_p.Q599* NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 760 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) GGTGGTAGCTGAGAGGAGCCT 0.562 NaN 0 0 0 1 0 18 44 ISM2 145501 broad.mit.edu 37 14 77942212 77942212 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:77942212G>C uc001xtz.2 - 7 1516 c.1442C>G c.(1441-1443)TCT>TGT p.S481C ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.S393C|ISM2_uc010tvl.1_Missense_Mutation_p.S400C NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 481 AMOP. extracellular region skin(1) 1 GCTCTCCCCAGACAGCATGGA 0.687 NaN 0 0 0 1 0 5 40 DIO2 1734 broad.mit.edu 37 14 80677657 80677657 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:80677657G>A uc010tvq.1 - 2 561 c.159C>T c.(157-159)CGC>CGT p.R53R uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Silent_p.R53R|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Silent_p.R53R|DIO2_uc010tvr.1_Silent_p.R53R|DIO2_uc010asy.2_Silent_p.R53R NM_000793 NP_000784 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II isoform a 53 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0281) AGGTCAGCATGCGCCGCCACT 0.592 NaN 0 0 0 1 0 16 16 FOXN3 1112 broad.mit.edu 37 14 89817116 89817116 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:89817116C>G uc001xxo.3 - 3 717 c.580G>C c.(580-582)GAG>CAG p.E194Q FOXN3_uc001xxn.3_Missense_Mutation_p.E194Q|FOXN3_uc010atk.2_Missense_Mutation_p.E194Q NM_001085471 NP_001078940 O00409 FOXN3_HUMAN checkpoint suppressor 1 isoform 1 194 Fork-head. DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(2)|ovary(1) 3 TGTCTATACTCTGGGTCTATG 0.388 NaN 0 0 0 1 0 26 54 RPS6KA5 9252 broad.mit.edu 37 14 91367073 91367073 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:91367073G>C uc001xys.2 - 10 1342 c.1127C>G c.(1126-1128)TCC>TGC p.S376C RPS6KA5_uc010twi.1_Missense_Mutation_p.S297C|RPS6KA5_uc001xyt.2_Missense_Mutation_p.S376C|RPS6KA5_uc010att.1_RNA NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 376 AGC-kinase C-terminal. S->A: Loss of kinase activity, and decreases the phosphorylation of S-360 and T-581. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) AGCAACAAAGGAATAGCCCTA 0.378 NaN 0 0 0 1 0 11 17 TC2N 123036 broad.mit.edu 37 14 92253884 92253884 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:92253884G>T uc001xzu.3 - 10 1326 c.1135C>A c.(1135-1137)CCA>ACA p.P379T TC2N_uc001xzt.3_Missense_Mutation_p.P379T|TC2N_uc010auc.2_Missense_Mutation_p.P315T|TC2N_uc001xzv.3_Missense_Mutation_p.P379T NM_001128595 NP_001122067 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 379 C2. nucleus upper_aerodigestive_tract(1) 1 COAD - Colon adenocarcinoma(157;0.218) GATGAGCTTGGAAGGTACCGT 0.348 NaN 1 0 3.09899e-07 1 3.2626e-07 9 31 TC2N 123036 broad.mit.edu 37 14 92253914 92253914 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:92253914G>C uc001xzu.3 - 10 1296 c.1105C>G c.(1105-1107)CAG>GAG p.Q369E TC2N_uc001xzt.3_Missense_Mutation_p.Q369E|TC2N_uc010auc.2_Missense_Mutation_p.Q305E|TC2N_uc001xzv.3_Missense_Mutation_p.Q369E NM_001128595 NP_001122067 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 369 C2. nucleus upper_aerodigestive_tract(1) 1 COAD - Colon adenocarcinoma(157;0.218) ATTTGTAACTGAATTCTGCTA 0.363 NaN 0 0 0 1 0 12 37 SERPINA3 12 broad.mit.edu 37 14 95080891 95080891 + Missense_Mutation SNP A A C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:95080891A>C uc001ydp.2 + 2 192 c.113A>C c.(112-114)AAC>ACC p.N38T SERPINA3_uc001ydo.3_Missense_Mutation_p.N63T|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.N38T|SERPINA3_uc001yds.2_Missense_Mutation_p.N38T|SERPINA3_uc010avg.2_Missense_Mutation_p.N38T NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 38 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) ACCCAGGAGAACCAAGACCGA 0.587 NaN 0 0 0 1 0 28 71 DICER1 23405 broad.mit.edu 37 14 95570291 95570291 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:95570291G>C uc001ydw.2 - 22 3624 c.3442C>G c.(3442-3444)CAA>GAA p.Q1148E DICER1_uc010avh.1_Missense_Mutation_p.Q46E|DICER1_uc001ydv.2_Missense_Mutation_p.Q1138E|DICER1_uc001ydx.2_Missense_Mutation_p.Q1148E|DICER1_uc001ydy.1_5'UTR NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1148 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ACAGACATTTGGTCATGATTT 0.418 NaN Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 0 0 0 1 0 36 18 CCNK 8812 broad.mit.edu 37 14 99959910 99959910 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:99959910C>T uc001ygi.3 + 3 387 c.257C>T c.(256-258)TCC>TTC p.S86F CCNK_uc001ygg.3_Missense_Mutation_p.S86F NM_001099402 NP_001092872 O75909 CCNK_HUMAN cyclin K isoform 1 86 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding 0 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) ATGTTTCATTCCTTCAAGCAA 0.328 NaN 0 0 0 1 0 13 14 ASPG 374569 broad.mit.edu 37 14 104552129 104552129 + Nonsense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:104552129G>T uc001yoq.1 + 1 82 c.22G>T c.(22-24)GAG>TAG p.E8* ASPG_uc001yoo.1_5'UTR|ASPG_uc001yop.1_Nonsense_Mutation_p.E8*|ASPG_uc001yor.1_Nonsense_Mutation_p.E8* NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN 60 kDa lysophospholipase 8 lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity 0 GGTGGGGCCCGAGCGGAGGCT 0.746 NaN 1 0 1.12685e-05 1 1.16464e-05 9 5 AHNAK2 113146 broad.mit.edu 37 14 105410361 105410361 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:105410361C>G uc010axc.1 - 7 11547 c.11427G>C c.(11425-11427)AAG>AAC p.K3809N AHNAK2_uc001ypx.2_Missense_Mutation_p.K3709N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3809 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATGACGGCATCTTGAACTTGG 0.572 NaN 0 0 0 1 0 94 204 CRIP1 1396 broad.mit.edu 37 14 105954549 105954549 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:105954549G>A uc001yri.3 + 3 201 c.87G>A c.(85-87)CTG>CTA p.L29L C14orf80_uc001yrj.2_5'Flank|C14orf80_uc001yrk.2_5'Flank NM_001311 NP_001302 P50238 CRIP1_HUMAN cysteine-rich protein 1 (intestinal) 29 LIM zinc-binding. cell proliferation cytoplasm zinc ion binding 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.235) GGCCCTGCCTGAAGTGCGAGA 0.682 NaN 0 0 0 1 0 18 33 CYFIP1 23191 broad.mit.edu 37 15 22993125 22993125 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:22993125C>T uc001yus.2 + 26 3116 c.3012C>T c.(3010-3012)ATC>ATT p.I1004I CYFIP1_uc001yut.2_Silent_p.I1004I|CYFIP1_uc010aya.1_Silent_p.I1032I|CYFIP1_uc001yuu.2_Silent_p.I573I|CYFIP1_uc001yuv.2_Silent_p.I198I NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 1004 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GGAACGCCATCCTCTTCTGCC 0.498 NaN 0 0 0 1 0 41 23 HERC2 8924 broad.mit.edu 37 15 28377404 28377404 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:28377404C>G uc001zbj.2 - 81 12518 c.12412G>C c.(12412-12414)GAG>CAG p.E4138Q NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4138 RCC1 16. 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) TGCAGCGCCTCCACCTTCAGA 0.567 NaN 0 0 0 1 0 3 14 TRPM1 4308 broad.mit.edu 37 15 31352839 31352839 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:31352839C>G uc001zfm.2 - 10 1233 c.1105G>C c.(1105-1107)GTA>CTA p.V369L TRPM1_uc010azy.2_Missense_Mutation_p.V276L|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 369 Extracellular (Potential). V -> L (in Ref. 2; BAC80200). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGAGCAGATACGTTTGTTCCT 0.562 NaN 0 0 0 1 0 6 11 RYR3 6263 broad.mit.edu 37 15 33961642 33961642 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:33961642C>T uc001zhi.2 + 37 5777 c.5707C>T c.(5707-5709)CTT>TTT p.L1903F RYR3_uc010bar.2_Missense_Mutation_p.L1903F NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1903 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCATGAGGACCTTCTCCTTCA 0.458 NaN 0 0 0 1 0 20 13 RYR3 6263 broad.mit.edu 37 15 33988667 33988667 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:33988667G>A uc001zhi.2 + 39 6179 c.6109G>A c.(6109-6111)GAG>AAG p.E2037K RYR3_uc010bar.2_Missense_Mutation_p.E2037K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2037 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAAGGAAGAGGAGTTGCTCAT 0.522 NaN 0 0 0 1 0 20 15 RYR3 6263 broad.mit.edu 37 15 34113731 34113731 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:34113731G>A uc001zhi.2 + 80 10993 c.10923G>A c.(10921-10923)ATG>ATA p.M3641I RYR3_uc010bar.2_Missense_Mutation_p.M3636I NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3641 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGGTGAGATGAGCCCCATGG 0.527 NaN 0 0 0 1 0 11 29 C15orf55 256646 broad.mit.edu 37 15 34647761 34647761 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:34647761C>T uc001zif.2 + 7 1623 c.1468C>T c.(1468-1470)CAG>TAG p.Q490* C15orf55_uc010ucc.1_Nonsense_Mutation_p.Q518*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.Q508* NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 490 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CAGTGGCGCTCAGTTGGACTC 0.572 NaN T BRD3|BRD4 lethal midline carcinoma 0 0 0 1 0 17 48 SPRED1 161742 broad.mit.edu 37 15 38614540 38614540 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:38614540G>T uc001zka.3 + 3 641 c.306G>T c.(304-306)ACG>ACT p.T102T NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 102 WH1. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TTGGTCTTACGTTTCAAAGTC 0.363 NaN Legius_syndrome 1 0 1.67942e-08 1 1.77359e-08 17 76 C15orf52 388115 broad.mit.edu 37 15 40632197 40632197 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:40632197G>A uc001zlh.3 - 2 180 c.164C>T c.(163-165)TCC>TTC p.S55F C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.1_5'Flank NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 55 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCTCATGGGGGACTCGGCTCT 0.612 NaN 0 0 0 1 0 18 9 SPTBN5 51332 broad.mit.edu 37 15 42178522 42178522 + Missense_Mutation SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:42178522A>G uc001zos.2 - 7 1159 c.826T>C c.(826-828)TAC>CAC p.Y276H NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 311 Spectrin 1. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) AGCTGCTCGTACTGGGTCTGC 0.622 NaN 0 0 0 1 0 3 18 PLA2G4D 283748 broad.mit.edu 37 15 42364006 42364006 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:42364006C>A uc001zox.2 - 15 1634 c.1539G>T c.(1537-1539)AGG>AGT p.R513S NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 513 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CCGGGATCCTCCTCATCAGCC 0.617 NaN 1 0 9.05144e-12 1 9.79289e-12 14 34 CDAN1 146059 broad.mit.edu 37 15 43018340 43018340 + Nonsense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:43018340C>A uc001zql.2 - 25 3340 c.3223G>T c.(3223-3225)GAG>TAG p.E1075* CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Nonsense_Mutation_p.E401* NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 1075 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) AGATGCTGCTCAGCAGGTGGG 0.562 NaN 1 0 1.12685e-05 1 1.16464e-05 8 31 TUBGCP4 27229 broad.mit.edu 37 15 43675567 43675567 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:43675567C>G uc001zro.2 + 7 828 c.588C>G c.(586-588)CTC>CTG p.L196L TUBGCP4_uc001zrn.2_Silent_p.L196L|TUBGCP4_uc010bdh.2_RNA NM_014444 NP_055259 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 196 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton ovary(3) 3 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) ATGGACTCCTCTTGGACCAGC 0.517 NaN 0 0 0 1 0 21 34 FBN1 2200 broad.mit.edu 37 15 48703211 48703211 + Missense_Mutation SNP C C G rs139679866 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:48703211C>G uc001zwx.1 - 66 8920 c.8592G>C c.(8590-8592)ATG>ATC p.M2864I FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2864 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCTGGATTTTCATCTTCAGAT 0.328 NaN 0 0 0 1 0 11 34 COPS2 9318 broad.mit.edu 37 15 49437194 49437194 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:49437194C>T uc001zxf.2 - 2 215 c.136G>A c.(136-138)GAC>AAC p.D46N COPS2_uc001zxh.2_Missense_Mutation_p.D46N|COPS2_uc010ufa.1_Intron NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 46 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) GCTTTTGGGTCATCTTCTTTT 0.323 NaN 0 0 0 1 0 27 33 GLDN 342035 broad.mit.edu 37 15 51634220 51634220 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:51634220G>A uc002aba.2 + 1 508 c.339G>A c.(337-339)ATG>ATA p.M113I GLDN_uc010bez.1_Missense_Mutation_p.M113I NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 113 Extracellular (Potential). cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) ACATGCTGATGATGATGACCT 0.711 NaN 0 0 0 1 0 14 37 LEO1 123169 broad.mit.edu 37 15 52242065 52242065 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:52242065C>T uc002abo.2 - 10 1754 c.1738G>A c.(1738-1740)GAA>AAA p.E580K LEO1_uc010bfd.2_Missense_Mutation_p.E520K NM_138792 NP_620147 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, 580 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding 0 all cancers(107;0.00264) TCCTCGCCTTCCTCCTCCTCA 0.512 NaN 0 0 0 1 0 27 58 ZNF280D 54816 broad.mit.edu 37 15 56981644 56981644 + Nonsense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:56981644G>C uc002adu.2 - 8 741 c.524C>G c.(523-525)TCA>TGA p.S175* ZNF280D_uc002adv.2_Nonsense_Mutation_p.S162*|ZNF280D_uc010bfq.2_Nonsense_Mutation_p.S175*|ZNF280D_uc002adw.1_Nonsense_Mutation_p.S203*|ZNF280D_uc010bfr.1_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) AGGACGTTTTGATAAAAATGA 0.279 NaN 0 0 0 1 0 10 15 CGNL1 84952 broad.mit.edu 37 15 57730472 57730472 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:57730472C>G uc002aeg.2 + 2 351 c.275C>G c.(274-276)TCT>TGT p.S92C CGNL1_uc010bfw.2_Missense_Mutation_p.S92C NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 92 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AGCAATGGTTCTGTGCCAAAG 0.502 NaN 0 0 0 1 0 11 44 RNF111 54778 broad.mit.edu 37 15 59323779 59323779 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:59323779C>G uc002afv.2 + 2 1037 c.758C>G c.(757-759)TCT>TGT p.S253C RNF111_uc002afs.2_Missense_Mutation_p.S253C|RNF111_uc002aft.2_Missense_Mutation_p.S253C|RNF111_uc002afu.2_Missense_Mutation_p.S253C|RNF111_uc002afw.2_Missense_Mutation_p.S253C NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 253 Ser-rich.|Interaction with AXIN1. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) CTACCTAGTTCTAGTAGTTCC 0.408 NaN 0 0 0 1 0 6 118 PLEKHO2 80301 broad.mit.edu 37 15 65157298 65157298 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:65157298G>A uc002anv.2 + 6 818 c.684G>A c.(682-684)GAG>GAA p.E228E PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Silent_p.E178E NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 228 Pro-rich. ovary(1)|lung(1) 2 CTGTGGGGGAGAGAGCCCCAA 0.637 NaN 0 0 0 1 0 8 83 MTFMT 123263 broad.mit.edu 37 15 65295436 65295436 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:65295436C>G uc002aof.3 - 9 1160 c.1134G>C c.(1132-1134)CAG>CAC p.Q378H NM_139242 NP_640335 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 378 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity ovary(2) 2 Tetrahydrofolic acid(DB00116) CAGTTTTTTTCTGCTTCTTCT 0.348 NaN 0 0 0 1 0 14 20 SLC24A1 9187 broad.mit.edu 37 15 65917858 65917858 + Silent SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:65917858C>A uc010ujf.1 + 2 1727 c.1440C>A c.(1438-1440)GCC>GCA p.A480A SLC24A1_uc010ujd.1_Silent_p.A480A|SLC24A1_uc010uje.1_Silent_p.A480A|SLC24A1_uc010ujg.1_Silent_p.A480A|SLC24A1_uc010ujh.1_Silent_p.A480A NM_004727 NP_004718 O60721 NCKX1_HUMAN solute carrier family 24 480 Cytoplasmic (Potential). response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity 0 TCGTTCCAGCCCTGGGTGTCA 0.582 NaN 1 0 1.58986e-06 1 1.65835e-06 10 94 UACA 55075 broad.mit.edu 37 15 70960935 70960935 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:70960935C>G uc002asr.2 - 16 2192 c.2088G>C c.(2086-2088)CAG>CAC p.Q696H UACA_uc010uke.1_Missense_Mutation_p.Q587H|UACA_uc002asq.2_Missense_Mutation_p.Q683H|UACA_uc010bin.1_Missense_Mutation_p.Q671H NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 696 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 CTCCTGATTTCTGTTCTAATC 0.363 NaN 0 0 0 1 0 27 59 C15orf60 283677 broad.mit.edu 37 15 73848666 73848666 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:73848666G>C uc002avq.2 + 5 598 c.570G>C c.(568-570)CAG>CAC p.Q190H C15orf60_uc010bjb.2_Missense_Mutation_p.Q162H NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN hypothetical protein LOC283677 190 pancreas(1) 1 CAGAACAACAGCAAGTGTGTG 0.443 NaN 0 0 0 1 0 12 34 CCDC33 80125 broad.mit.edu 37 15 74573088 74573088 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:74573088G>C uc002axo.2 + 9 1363 c.969G>C c.(967-969)AAG>AAC p.K323N CCDC33_uc002axp.2_Missense_Mutation_p.K145N NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 526 protein binding ovary(3)|skin(2) 5 TGTACCAGAAGATGCTGACAG 0.577 NaN 0 0 0 1 0 17 55 LMAN1L 79748 broad.mit.edu 37 15 75108987 75108987 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:75108987C>T uc002ayt.1 + 4 455 c.453C>T c.(451-453)ATC>ATT p.I151I LMAN1L_uc010bkd.2_Silent_p.I79I|LMAN1L_uc010ulo.1_Silent_p.I43I|LMAN1L_uc010bke.1_Silent_p.I151I NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 151 Lumenal (Potential).|L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 GTCCTGCCATCCGTGTGCTGG 0.488 NaN 0 0 0 1 0 5 47 PTPN9 5780 broad.mit.edu 37 15 75798197 75798197 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:75798197C>T uc002bal.2 - 7 1295 c.787G>A c.(787-789)GAG>AAG p.E263K NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 263 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 AGGATGATCTCATCGAAGGGA 0.512 NaN 0 0 0 1 0 29 15 SGK269 79834 broad.mit.edu 37 15 77407505 77407505 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:77407505C>G uc002bcm.2 - 6 4542 c.4234G>C c.(4234-4236)GAA>CAA p.E1412Q NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1412 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TCATCCTTTTCAGGGTCATCT 0.498 NaN 0 0 0 1 0 17 58 ACAN 176 broad.mit.edu 37 15 89398590 89398590 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:89398590G>A uc010upo.1 + 12 3148 c.2774G>A c.(2773-2775)AGA>AAA p.R925K ACAN_uc010upp.1_Missense_Mutation_p.R925K|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 925 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GATGAAGAGAGAATTGAGTGG 0.577 NaN 0 0 0 1 0 15 32 C15orf58 390637 broad.mit.edu 37 15 90784743 90784743 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:90784743C>T uc002bpc.2 + 4 782 c.603C>T c.(601-603)TTC>TTT p.F201F NM_001013657 NP_001013679 Q6ZNW5 VTC2_HUMAN hypothetical protein LOC390637 201 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity 0 ACCCGGGCTTCCGTGTCGGCT 0.667 NaN 0 0 0 1 0 12 25 PCSK6 5046 broad.mit.edu 37 15 101872078 101872078 + Nonsense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:101872078C>A uc002bwy.2 - 15 2331 c.2017G>T c.(2017-2019)GAA>TAA p.E673* PCSK6_uc010bpd.2_Nonsense_Mutation_p.E469*|PCSK6_uc010bpe.2_Nonsense_Mutation_p.E673*|PCSK6_uc002bxa.2_Nonsense_Mutation_p.E673*|PCSK6_uc002bxb.2_Nonsense_Mutation_p.E673* NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 673 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCCTCATCTTCAGGAACTTCC 0.557 NaN 1 0 0.014758 1 0.0148163 4 46 RHBDF1 64285 broad.mit.edu 37 16 111597 111597 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:111597C>T uc002cfl.3 - 12 1454 c.1306G>A c.(1306-1308)GAG>AAG p.E436K RHBDF1_uc010uty.1_Missense_Mutation_p.E459K|RHBDF1_uc010utz.1_Missense_Mutation_p.E436K|RHBDF1_uc010bqo.1_RNA NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 436 Lumenal (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) TCCACCGTCTCATGCTGCGAG 0.657 NaN 0 0 0 1 0 28 49 HBQ1 3049 broad.mit.edu 37 16 230775 230776 + Missense_Mutation DNP TC TC AA TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:230775_230776TC>AA uc002cfz.2 + 2 357_358 c.206_207TC>AA c.(205-207)CTC>CAA p.L69Q NM_005331 NP_005322 P09105 HBAT_HUMAN theta 1 globin 69 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) GCGCTGAGCCTCGCCGTGGAGC 0.698 NaN 0 0 0 1 0 3 12 PIGQ 9091 broad.mit.edu 37 16 632999 632999 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:632999C>T uc002cho.2 + 10 1750 c.1648C>T c.(1648-1650)CTA>TTA p.L550L PIGQ_uc010bqw.2_Silent_p.I570I|PIGQ_uc002chn.2_Silent_p.I570I|PIGQ_uc010uui.1_3'UTR|PIGQ_uc002chp.2_Silent_p.L120L|uc010uuj.1_3'UTR NM_148920 NP_683721 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 550 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1) 1 Hepatocellular(780;0.00335) GGGAGCTCATCTACCCCTGGA 0.672 NaN 0 0 0 1 0 57 72 FAM195A 84331 broad.mit.edu 37 16 697470 697470 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:697470C>T uc002cic.1 + 3 379 c.236C>T c.(235-237)ACG>ATG p.T79M FAM195A_uc002cid.1_Intron|FAM195A_uc002cie.2_Missense_Mutation_p.R8C|FAM195A_uc002cif.1_RNA|WDR90_uc002cig.1_5'Flank|WDR90_uc002cih.1_5'Flank|WDR90_uc002cii.1_5'Flank|WDR90_uc002cij.1_5'Flank NM_138418 NP_612427 Q9BUT9 F195A_HUMAN hypothetical protein LOC84331 79 0 GCCCCCTCCACGTCCCCATCC 0.647 NaN 0 0 0 1 0 20 14 PKD1 5310 broad.mit.edu 37 16 2153270 2153270 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:2153270C>A uc002cos.1 - 23 8997 c.8788G>T c.(8788-8790)GAC>TAC p.D2930Y PKD1_uc002cot.1_Missense_Mutation_p.D2930Y|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2930 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CACGCACCGTCCAGCAGCGTA 0.647 NaN 1 0 1.85244e-09 1 1.9727e-09 25 12 PKD1 5310 broad.mit.edu 37 16 2153839 2153839 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:2153839C>T uc002cos.1 - 23 8428 c.8219G>A c.(8218-8220)GGA>GAA p.G2740E PKD1_uc002cot.1_Missense_Mutation_p.G2740E|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2740 Extracellular (Potential).|REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 TGACTCGGCTCCCAGCTCTGA 0.597 NaN 0 0 0 1 0 13 4 MMP25 64386 broad.mit.edu 37 16 3100351 3100351 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:3100351C>G uc002cth.2 + 4 702 c.465C>G c.(463-465)CTC>CTG p.L155L MMP25_uc002cti.1_Silent_p.L91L NM_022468 NP_071913 Q9NPA2 MMP25_HUMAN matrix metalloproteinase 25 preproprotein 155 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 AGTCAGGCCTCACATTTCATG 0.637 NaN 0 0 0 1 0 15 35 TXNDC11 51061 broad.mit.edu 37 16 11773080 11773080 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:11773080C>G uc010buu.1 - 13 2991 c.2929G>C c.(2929-2931)GAA>CAA p.E977Q TXNDC11_uc002dbg.1_Missense_Mutation_p.E950Q NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 977 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 TTATTCCTTTCAGACACCAGT 0.478 NaN 0 0 0 1 0 14 44 NOMO3 408050 broad.mit.edu 37 16 16349968 16349968 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:16349968C>T uc002deq.2 + 11 1308 c.1173C>T c.(1171-1173)ATC>ATT p.I391I NOMO3_uc002dep.2_Silent_p.I391I|NOMO3_uc010bvp.1_Silent_p.I224I NM_001004067 NP_001004067 P69849 NOMO3_HUMAN nodal modulator 3 precursor 391 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CGGTCACCATCAAAATTGCAC 0.468 NaN 0 0 0 1 0 40 119 DNAH3 55567 broad.mit.edu 37 16 20998710 20998710 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:20998710G>C uc010vbe.1 - 47 6943 c.6943C>G c.(6943-6945)CTG>GTG p.L2315V DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2315 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TTGTCAATCAGACGATCATAG 0.413 NaN 0 0 0 1 0 42 75 DNAH3 55567 broad.mit.edu 37 16 21065842 21065842 + Missense_Mutation SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:21065842T>A uc010vbe.1 - 28 3938 c.3938A>T c.(3937-3939)AAG>ATG p.K1313M NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1313 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ATCATTGCTCTTTTTCAGAAA 0.537 NaN 0 0 0 1 0 9 30 IL21R 50615 broad.mit.edu 37 16 27456025 27456025 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:27456025C>A uc002doq.1 + 6 903 c.670C>A c.(670-672)CAG>AAG p.Q224K IL21R_uc002dor.1_Missense_Mutation_p.Q224K|IL21R_uc002dos.1_Missense_Mutation_p.Q224K NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 224 Extracellular (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 GGTCATCTTTCAGACCCAGTC 0.582 NaN T BCL6 NHL 1 0 0.000673444 1 0.000684208 11 40 PRRT2 112476 broad.mit.edu 37 16 29824976 29824976 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:29824976C>T uc002due.3 + 2 902 c.601C>T c.(601-603)CAC>TAC p.H201Y uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.H201Y|PRRT2_uc002duf.1_Missense_Mutation_p.H201Y|C16orf53_uc002dug.3_5'Flank NM_145239 NP_660282 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 201 Extracellular (Potential).|Pro-rich. response to biotic stimulus integral to membrane 0 CCCTGAGCCTCACTCACCACC 0.612 NaN 0 0 0 1 0 7 11 PPP4C 5531 broad.mit.edu 37 16 30096314 30096314 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:30096314C>G uc002dwe.2 + 9 999 c.855C>G c.(853-855)ATC>ATG p.I285M uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.I285M|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.I206M NM_002720 NP_002711 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 285 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity skin(1) 1 ATTTCATCATCTTTGAGGCTG 0.627 NaN 0 0 0 1 0 33 59 ARMC5 79798 broad.mit.edu 37 16 31470893 31470893 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:31470893C>T uc002ecc.2 + 1 577 c.48C>T c.(46-48)CTC>CTT p.L16L ARMC5_uc010vfn.1_Silent_p.L111L|ARMC5_uc010vfo.1_Silent_p.L48L|ARMC5_uc002eca.3_Silent_p.L16L|ARMC5_uc010vfp.1_Silent_p.L16L|ARMC5_uc002ecb.2_Silent_p.L16L NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 16 binding pancreas(1) 1 CGTTCTGCCTCGCGCAGCTCG 0.716 NaN 0 0 0 1 0 5 8 PHKB 5257 broad.mit.edu 37 16 47733202 47733202 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:47733202G>C uc002eev.3 + 31 3259 c.3207G>C c.(3205-3207)TTG>TTC p.L1069F PHKB_uc002eeu.3_Missense_Mutation_p.L1062F|PHKB_uc002eew.3_Missense_Mutation_p.L310F NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 1069 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) GCAGCTATTTGACAAAGGCGG 0.463 NaN 0 0 0 1 0 26 90 LONP2 83752 broad.mit.edu 37 16 48368170 48368170 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:48368170C>T uc002efi.1 + 12 1928 c.1839C>T c.(1837-1839)ATC>ATT p.I613I LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Silent_p.I569I NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 613 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 CTGAATCTATCAGTGACACTA 0.393 NaN 0 0 0 1 0 24 77 SALL1 6299 broad.mit.edu 37 16 51175982 51175982 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:51175982C>G uc010vgs.1 - 2 182 c.151G>C c.(151-153)GAG>CAG p.E51Q SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 51 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCAAAGAACTCGGCACAGCAC 0.453 NaN 0 0 0 1 0 107 55 OGFOD1 55239 broad.mit.edu 37 16 56504661 56504661 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:56504661G>A uc002ejb.2 + 10 1344 c.1243G>A c.(1243-1245)GAG>AAG p.E415K OGFOD1_uc002ejc.2_Missense_Mutation_p.E275K NM_018233 NP_060703 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase 415 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1) 1 Vitamin C(DB00126) ACAGAGCAATGAGCAGACAGA 0.438 NaN 0 0 0 1 0 3 14 CNOT1 23019 broad.mit.edu 37 16 58565903 58565903 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:58565903T>C uc002env.2 - 42 6429 c.6136A>G c.(6136-6138)ATA>GTA p.I2046V CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.I2041V|CNOT1_uc002ent.2_5'UTR|CNOT1_uc010vik.1_Missense_Mutation_p.I1003V NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2046 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GCAATAAATATCCGATGGGAA 0.423 NaN 0 0 0 1 0 99 33 CMTM4 146223 broad.mit.edu 37 16 66651180 66651180 + Nonstop_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:66651180C>G uc002epz.2 - 5 887 c.705G>C c.(703-705)TAG>TAC p.*235Y CMTM4_uc002eqa.2_3'UTR NM_178818 NP_848933 Q8IZR5 CKLF4_HUMAN chemokine-like factor superfamily 4 isoform 1 235 chemotaxis extracellular space|integral to membrane cytokine activity pancreas(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214) CTGAACTTTTCTAGGCAAGTT 0.363 NaN 0 0 0 1 0 10 40 DYNC1LI2 1783 broad.mit.edu 37 16 66783140 66783140 + Silent SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:66783140T>A uc002eqb.1 - 3 289 c.258A>T c.(256-258)CTA>CTT p.L86L DYNC1LI2_uc010vis.1_Silent_p.L86L|DYNC1LI2_uc010vit.1_Silent_p.L86L|DYNC1LI2_uc010viu.1_Intron NM_006141 NP_006132 O43237 DC1L2_HUMAN dynein, cytoplasmic, light intermediate 86 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|skin(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) AGAGATATTCTAGGCCTCTTC 0.468 NaN 0 0 0 1 0 35 62 ELMO3 79767 broad.mit.edu 37 16 67236431 67236431 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:67236431G>A uc002esa.2 + 14 1595 c.1552G>A c.(1552-1554)GAC>AAC p.D518N ELMO3_uc002esb.2_Missense_Mutation_p.D501N|ELMO3_uc002esc.2_Missense_Mutation_p.D352N|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 465 ELMO. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GGAGGACTTCGACAAGGTGGG 0.622 NaN 0 0 0 1 0 35 86 FHOD1 29109 broad.mit.edu 37 16 67263797 67263797 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:67263797G>A uc002esl.2 - 21 3423 c.3311C>T c.(3310-3312)TCA>TTA p.S1104L LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|FHOD1_uc002esk.2_Missense_Mutation_p.S163L|FHOD1_uc010ced.2_Missense_Mutation_p.S911L NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1104 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GATCTCATCTGATGTATCACT 0.582 NaN 0 0 0 1 0 7 118 FHOD1 29109 broad.mit.edu 37 16 67273347 67273347 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:67273347C>G uc002esl.2 - 2 324 c.212G>C c.(211-213)TGT>TCT p.C71S FHOD1_uc010ced.2_5'UTR|FHOD1_uc010vjh.1_5'UTR NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 71 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TTGCAGAGCACAATCCTCCAA 0.557 NaN 0 0 0 1 0 11 68 COG8 84342 broad.mit.edu 37 16 69369059 69369059 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:69369059T>C uc002ewy.2 - 3 849 c.778A>G c.(778-780)ACT>GCT p.T260A COG8_uc002ewz.3_Missense_Mutation_p.T260A NM_032382 NP_115758 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 260 protein transport Golgi membrane|Golgi transport complex ovary(1) 1 GGAATGGCAGTCAGGATGGAC 0.517 NaN 0 0 0 1 0 8 45 SF3B3 23450 broad.mit.edu 37 16 70603923 70603923 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:70603923G>T uc002ezf.2 + 24 3490 c.3279G>T c.(3277-3279)ATG>ATT p.M1093I NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 1093 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) AGGTGATCATGAACTACCATG 0.552 NaN 1 0 1.02788e-11 1 1.1109e-11 17 55 ADAT1 23536 broad.mit.edu 37 16 75646313 75646313 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:75646313C>T uc002feo.1 - 7 973 c.871G>A c.(871-873)GGA>AGA p.G291R ADAT1_uc002fep.1_Missense_Mutation_p.G142R NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 291 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity ovary(1)|skin(1) 2 GTTCTGTCTCCACGGCCTGGC 0.587 NaN 0 0 0 1 0 17 77 CNTNAP4 85445 broad.mit.edu 37 16 76556045 76556045 + Silent SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:76556045A>G uc002feu.1 + 19 3031 c.2646A>G c.(2644-2646)GAA>GAG p.E882E CNTNAP4_uc002fev.1_Silent_p.E746E|CNTNAP4_uc010chb.1_Silent_p.E809E|CNTNAP4_uc002fex.1_Silent_p.E885E NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 882 Extracellular (Potential).|Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TGAGGGTTGAAAGGAACATGA 0.522 NaN 0 0 0 1 0 48 139 ATMIN 23300 broad.mit.edu 37 16 81077671 81077671 + Nonsense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:81077671C>G uc002ffz.1 + 4 1586 c.1568C>G c.(1567-1569)TCA>TGA p.S523* ATMIN_uc002fga.2_Nonsense_Mutation_p.S365*|ATMIN_uc010vnn.1_Nonsense_Mutation_p.S294*|ATMIN_uc002fgb.1_Nonsense_Mutation_p.S365* NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 523 response to DNA damage stimulus nucleus zinc ion binding 0 AGTGTTCATTCATCATATAAT 0.393 NaN 0 0 0 1 0 26 66 ATMIN 23300 broad.mit.edu 37 16 81078172 81078172 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:81078172G>A uc002ffz.1 + 4 2087 c.2069G>A c.(2068-2070)GGA>GAA p.G690E ATMIN_uc002fga.2_Missense_Mutation_p.G532E|ATMIN_uc010vnn.1_Missense_Mutation_p.G461E|ATMIN_uc002fgb.1_Missense_Mutation_p.G532E NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 690 response to DNA damage stimulus nucleus zinc ion binding 0 GGGTGTAGGGGAAATTCTAAC 0.468 NaN 0 0 0 1 0 93 217 ATMIN 23300 broad.mit.edu 37 16 81078303 81078303 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:81078303G>T uc002ffz.1 + 4 2218 c.2200G>T c.(2200-2202)GAT>TAT p.D734Y ATMIN_uc002fga.2_Missense_Mutation_p.D576Y|ATMIN_uc010vnn.1_Missense_Mutation_p.D505Y|ATMIN_uc002fgb.1_Missense_Mutation_p.D576Y NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 734 response to DNA damage stimulus nucleus zinc ion binding 0 CGTGAGTACTGATTCATCTGA 0.428 NaN 1 0 3.76114e-14 1 4.10857e-14 37 221 ATMIN 23300 broad.mit.edu 37 16 81078383 81078383 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:81078383G>A uc002ffz.1 + 4 2298 c.2280G>A c.(2278-2280)TTG>TTA p.L760L ATMIN_uc002fga.2_Silent_p.L602L|ATMIN_uc010vnn.1_Silent_p.L531L|ATMIN_uc002fgb.1_Silent_p.L602L NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 760 response to DNA damage stimulus nucleus zinc ion binding 0 AAGTTCAGTTGAACAGTACAG 0.448 NaN 0 0 0 1 0 46 141 KIAA0513 9764 broad.mit.edu 37 16 85100813 85100813 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:85100813G>C uc002fiu.2 + 2 356 c.136G>C c.(136-138)GAG>CAG p.E46Q KIAA0513_uc002fis.3_Missense_Mutation_p.E46Q|KIAA0513_uc010voj.1_Missense_Mutation_p.E46Q|KIAA0513_uc002fit.2_Missense_Mutation_p.E46Q NM_014732 NP_055547 O60268 K0513_HUMAN hypothetical protein LOC9764 46 cytoplasm breast(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.234) ATCAGAGAGTGAGACCACTGA 0.647 NaN 0 0 0 1 0 15 46 FBXO31 79791 broad.mit.edu 37 16 87365010 87365010 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:87365010C>G uc002fjw.2 - 9 1548 c.1504G>C c.(1504-1506)GAG>CAG p.E502Q FBXO31_uc010vot.1_Missense_Mutation_p.E330Q|FBXO31_uc002fjv.2_Missense_Mutation_p.E394Q NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 502 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) GATTTCAGCTCCAGCCAGACG 0.622 NaN 0 0 0 1 0 14 24 ZFPM1 161882 broad.mit.edu 37 16 88594547 88594547 + Nonsense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:88594547G>T uc002fkv.2 + 6 646 c.613G>T c.(613-615)GAG>TAG p.E205* NM_153813 NP_722520 Q8IX07 FOG1_HUMAN zinc finger protein, multitype 1 205 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0478) TGTGAAGAAGGAGCCAGCAGA 0.697 NaN 1 0 0.014758 1 0.0148163 4 11 ZFPM1 161882 broad.mit.edu 37 16 88594556 88594556 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:88594556G>C uc002fkv.2 + 6 655 c.622G>C c.(622-624)GAG>CAG p.E208Q NM_153813 NP_722520 Q8IX07 FOG1_HUMAN zinc finger protein, multitype 1 208 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0478) GGAGCCAGCAGAGCCCACGTG 0.692 NaN 0 0 0 1 0 3 14 CDT1 81620 broad.mit.edu 37 16 88871024 88871024 + Missense_Mutation SNP A A C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:88871024A>C uc002flu.2 + 2 354 c.300A>C c.(298-300)AAA>AAC p.K100N NM_030928 NP_112190 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 100 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) AGATAAAGAAATCCACCCCGG 0.687 NaN 0 0 0 1 0 20 28 ANKRD11 29123 broad.mit.edu 37 16 89348054 89348054 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:89348054C>G uc002fmx.1 - 9 5357 c.4896G>C c.(4894-4896)AAG>AAC p.K1632N ANKRD11_uc002fmy.1_Missense_Mutation_p.K1632N|ANKRD11_uc002fnc.1_Missense_Mutation_p.K1632N|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.K1589N NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1632 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCAGACCCTTCTTCCGCCCGT 0.572 NaN 0 0 0 1 0 10 126 ZNF276 92822 broad.mit.edu 37 16 89799709 89799709 + Splice_Site SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:89799709G>C uc002fos.3 + 7 1267 c.1170_splice c.e7-1 p.K390_splice ZNF276_uc010ciq.2_Splice_Site_p.K176_splice|ZNF276_uc002fop.2_Splice_Site_p.K298_splice|ZNF276_uc002foq.3_Splice_Site_p.K315_splice|ZNF276_uc010cir.2_Splice_Site|ZNF276_uc002for.3_Splice_Site_p.K176_splice|ZNF276_uc010cis.2_Splice_Site_p.K149_splice|ZNF276_uc002fot.3_Splice_Site|ZNF276_uc010vpm.1_Splice_Site_p.K228_splice|ZNF276_uc010cit.1_Splice_Site_p.K149_splice NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTTTTTTTCAGAGTCTCTGGT 0.428 NaN 0 0 0 1 0 31 111 FANCA 2175 broad.mit.edu 37 16 89838145 89838145 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr16:89838145C>T uc002fou.1 - 23 2134 c.2092G>A c.(2092-2094)GAG>AAG p.E698K FANCA_uc010vpn.1_Missense_Mutation_p.E698K NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 698 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TTTGATATCTCAACGCTGCTG 0.517 NaN D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 1 0 29 64 PRPF8 10594 broad.mit.edu 37 17 1564436 1564436 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:1564436G>A uc002fte.2 - 28 4473 c.4359C>T c.(4357-4359)TTC>TTT p.F1453F NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1453 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GTGTCCACCAGAACGGATTCT 0.547 NaN 0 0 0 1 0 44 4 PRPF8 10594 broad.mit.edu 37 17 1564447 1564447 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:1564447G>C uc002fte.2 - 28 4462 c.4348C>G c.(4348-4350)CAG>GAG p.Q1450E NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1450 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) AACGGATTCTGCTTCAAAACC 0.542 NaN 0 0 0 1 0 45 5 PRPF8 10594 broad.mit.edu 37 17 1564634 1564634 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:1564634G>A uc002fte.2 - 27 4383 c.4269C>T c.(4267-4269)TTC>TTT p.F1423F NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1423 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGTCCTTCTGGAAGAGGGTAT 0.458 NaN 0 0 0 1 0 101 11 PRPF8 10594 broad.mit.edu 37 17 1564962 1564962 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:1564962G>C uc002fte.2 - 26 4259 c.4145C>G c.(4144-4146)TCT>TGT p.S1382C NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1382 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GACCCGCTGAGAATCAATGAA 0.552 NaN 0 0 0 1 0 47 6 OR1E2 8388 broad.mit.edu 37 17 3336869 3336869 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:3336869G>C uc010vre.1 - 1 267 c.267C>G c.(265-267)GAC>GAG p.D89E NM_003554 NP_003545 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, 89 Extracellular (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity large_intestine(1) 1 GGATGGATGGGTCTTGGTTCT 0.483 NaN 0 0 0 1 0 19 26 ZZEF1 23140 broad.mit.edu 37 17 3992006 3992006 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:3992006G>A uc002fxe.2 - 13 2271 c.2207C>T c.(2206-2208)ACC>ATC p.T736I ZZEF1_uc002fxk.1_Missense_Mutation_p.T736I NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 736 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 AAACTGAAGGGTCCTGAGGAG 0.527 NaN 0 0 0 1 0 5 25 ZZEF1 23140 broad.mit.edu 37 17 4013096 4013096 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:4013096G>C uc002fxe.2 - 6 1192 c.1128C>G c.(1126-1128)CTC>CTG p.L376L ZZEF1_uc002fxk.1_Silent_p.L376L NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 376 DOC. calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAACAGCCCTGAGACCATGAA 0.443 NaN 0 0 0 1 0 12 43 UBE2G1 7326 broad.mit.edu 37 17 4200037 4200037 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:4200037G>A uc002fxs.2 - 3 580 c.222C>T c.(220-222)TTC>TTT p.F74F NM_003342 NP_003333 P62253 UB2G1_HUMAN ubiquitin-conjugating enzyme E2G 1 74 protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity 0 TTTCTGTAATGAATTTCATTT 0.348 NaN 0 0 0 1 0 126 17 MYBBP1A 10514 broad.mit.edu 37 17 4457360 4457360 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:4457360T>C uc002fyb.3 - 4 469 c.407A>G c.(406-408)AAC>AGC p.N136S MYBBP1A_uc002fxz.3_Missense_Mutation_p.N136S NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 136 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 TCCAAACAGGTTTGCAAAGAG 0.592 NaN 0 0 0 1 0 47 8 SMTNL2 342527 broad.mit.edu 37 17 4498617 4498617 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:4498617C>T uc002fyf.1 + 5 1051 c.984C>T c.(982-984)GCC>GCT p.A328A SMTNL2_uc002fye.2_Silent_p.A184A NM_001114974 NP_001108446 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 isoform 1 328 0 READ - Rectum adenocarcinoma(115;0.0325) AAACGGCGGCCGGCAAGTACG 0.677 NaN 0 0 0 1 0 3 26 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:7577099C>G uc002gim.2 - 8 1033 c.839G>C c.(838-840)AGA>ACA p.R280T TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 280 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(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) GCGCCGGTCTCTCCCAGGACA 0.542 111 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 1 0 31 3 PFAS 5198 broad.mit.edu 37 17 8157482 8157482 + Splice_Site SNP A A C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:8157482A>C uc002gkr.2 + 3 284 c.143_splice c.e3-2 p.A48_splice PFAS_uc010vuv.1_Splice_Site NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTCTCCCTGCAGCTGAGGCCC 0.582 NaN 0 0 0 1 0 20 16 PIK3R5 23533 broad.mit.edu 37 17 8808182 8808182 + Silent SNP G G A rs144885920 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:8808182G>A uc002glt.2 - 5 391 c.324C>T c.(322-324)ACC>ACT p.T108T PIK3R5_uc010vuz.1_Silent_p.T108T|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.T108T|PIK3R5_uc010cob.1_5'UTR NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 108 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 ACCGGTGGTAGGTGCTGGCTG 0.552 NaN 0 0 0 1 0 10 28 MYH4 4622 broad.mit.edu 37 17 10362679 10362679 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:10362679G>C uc002gmn.2 - 15 1587 c.1476C>G c.(1474-1476)TTC>TTG p.F492L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 492 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TGTGGTGGTTGAAAAACTGTT 0.473 NaN 0 0 0 1 0 26 64 MYO15A 51168 broad.mit.edu 37 17 18045033 18045033 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:18045033G>C uc010vxh.1 + 22 5936 c.5598G>C c.(5596-5598)CTG>CTC p.L1866L NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1866 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TGTCAGTGCTGAGTCGCCTGT 0.582 NaN OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 32 28 EPN2 22905 broad.mit.edu 37 17 19235231 19235231 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:19235231C>G uc002gvd.3 + 10 1925 c.1477C>G c.(1477-1479)CAA>GAA p.Q493E EPN2_uc010cql.1_Missense_Mutation_p.Q202E|EPN2_uc002gve.3_Missense_Mutation_p.Q436E|EPN2_uc002gvf.3_Missense_Mutation_p.Q208E|EPN2_uc010vyo.1_Missense_Mutation_p.Q201E|EPN2_uc010vyp.1_Missense_Mutation_p.Q429E|EPN2_uc010vyq.1_Missense_Mutation_p.Q430E|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Missense_Mutation_p.Q156E NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 493 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CTTTGAGTCTCAACCCCTGAC 0.572 NaN 0 0 0 1 0 33 134 CCDC144NL 339184 broad.mit.edu 37 17 20768765 20768765 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:20768765C>A uc002gyf.2 - 4 749 c.629G>T c.(628-630)AGA>ATA p.R210I uc002gyg.1_5'Flank|uc002gyh.1_5'Flank NM_001004306 NP_001004306 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, 210 0 CTTCCCCTTTCTTTTTCCTCT 0.368 NaN 1 0 1.60099e-16 1 1.76978e-16 36 45 CCDC144NL 339184 broad.mit.edu 37 17 20796765 20796765 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:20796765G>C uc002gyf.2 - 2 475 c.355C>G c.(355-357)CTA>GTA p.L119V uc002gyg.1_Intron|uc002gyh.1_Intron NM_001004306 NP_001004306 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, 119 0 TCAGGAACTAGTTGCTGAATG 0.249 NaN 0 0 0 1 0 33 30 SLC13A2 9058 broad.mit.edu 37 17 26824194 26824194 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:26824194C>T uc002hbh.2 + 12 1753 c.1686C>T c.(1684-1686)CTC>CTT p.L562L SLC13A2_uc010wam.1_Silent_p.L518L|SLC13A2_uc010wan.1_Silent_p.L611L|SLC13A2_uc010wao.1_Silent_p.L519L|SLC13A2_uc002hbi.2_Silent_p.L491L NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 562 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GCATCCCCCTCTTCAGCCTGC 0.612 NaN 0 0 0 1 0 60 87 PHF12 57649 broad.mit.edu 37 17 27246266 27246266 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:27246266C>G uc002hdg.1 - 6 1394 c.864G>C c.(862-864)CAG>CAC p.Q288H PHF12_uc010wbb.1_Missense_Mutation_p.Q270H|PHF12_uc002hdi.1_Missense_Mutation_p.Q284H|PHF12_uc002hdj.1_Missense_Mutation_p.Q288H|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdh.1_Missense_Mutation_p.Q71H NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 288 PHD-type 2; atypical. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) AATAGTCACACTGGATGAGAG 0.502 NaN 0 0 0 1 0 7 29 ABHD15 116236 broad.mit.edu 37 17 27893107 27893107 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:27893107C>A uc002hed.1 - 1 942 c.878G>T c.(877-879)AGC>ATC p.S293I TP53I13_uc002hee.2_5'Flank NM_198147 NP_937790 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 precursor 293 extracellular region carboxylesterase activity 0 TACCCACCTGCTGAGGGCGAT 0.617 NaN 1 0 1.33834e-09 1 1.42971e-09 16 49 EFCAB5 374786 broad.mit.edu 37 17 28380875 28380875 + Nonsense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:28380875G>T uc002het.2 + 10 2095 c.1903G>T c.(1903-1905)GAA>TAA p.E635* EFCAB5_uc010wbi.1_Nonsense_Mutation_p.E378*|EFCAB5_uc010wbj.1_Nonsense_Mutation_p.E579*|EFCAB5_uc010wbk.1_Nonsense_Mutation_p.E292*|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Nonsense_Mutation_p.E514*|EFCAB5_uc010csf.2_Nonsense_Mutation_p.E514* NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 635 calcium ion binding ovary(1)|skin(1) 2 GTCAGCTGCAGAACAGGGATC 0.443 NaN 1 0 8.04996e-18 1 8.92782e-18 23 101 MYO1D 4642 broad.mit.edu 37 17 30986161 30986161 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:30986161C>G uc002hho.1 - 17 2329 c.2317G>C c.(2317-2319)GAG>CAG p.E773Q MYO1D_uc002hhp.1_Missense_Mutation_p.E773Q NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 773 myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) AGGGCCTCCTCAAAACGGCGA 0.517 NaN OREG0024311 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 15 65 MYO1D 4642 broad.mit.edu 37 17 30986208 30986208 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:30986208C>A uc002hho.1 - 17 2282 c.2270G>T c.(2269-2271)GGG>GTG p.G757V MYO1D_uc002hhp.1_Missense_Mutation_p.G757V NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 757 myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) CACGTGCTTCCCGTAGTCTCG 0.537 NaN OREG0024311 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.85244e-09 1 1.9727e-09 23 93 SLFN12 55106 broad.mit.edu 37 17 33749640 33749640 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:33749640G>C uc002hji.3 - 2 785 c.408C>G c.(406-408)GTC>GTG p.V136V SLFN12_uc002hjj.3_Silent_p.V136V|SLFN12_uc010cts.2_Silent_p.V136V NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 136 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGCATTCATGACTTTTGCAG 0.428 NaN 0 0 0 1 0 22 54 ACACA 31 broad.mit.edu 37 17 35468485 35468485 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:35468485G>C uc002hnm.2 - 52 6626 c.6435C>G c.(6433-6435)ATC>ATG p.I2145M ACACA_uc002hnk.2_Missense_Mutation_p.I2067M|ACACA_uc002hnl.2_Missense_Mutation_p.I2087M|ACACA_uc002hnn.2_Missense_Mutation_p.I2145M|ACACA_uc002hno.2_Missense_Mutation_p.I2182M|ACACA_uc010cuy.2_Missense_Mutation_p.I790M|ACACA_uc010wdb.1_Missense_Mutation_p.I183M|ACACA_uc010wdc.1_Missense_Mutation_p.I271M NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 2145 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CAGCCAAGTGGATGTAGACTG 0.502 NaN 0 0 0 1 0 29 47 TADA2A 6871 broad.mit.edu 37 17 35800675 35800675 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:35800675C>T uc002hnt.2 + 6 511 c.354C>T c.(352-354)TTC>TTT p.F118F TADA2A_uc002hnu.1_Silent_p.F118F|TADA2A_uc002hnv.2_Silent_p.F118F|TADA2A_uc010wdd.1_Silent_p.F118F|TADA2A_uc002hnw.2_Silent_p.F17F|TADA2A_uc010cvb.2_5'UTR NM_001488 NP_001479 O75478 TAD2A_HUMAN transcriptional adaptor 2A isoform a 118 SANT. histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(3)|skin(1) 4 TGAAGCATTTCATCAATAACC 0.458 NaN 0 0 0 1 0 12 39 SOCS7 30837 broad.mit.edu 37 17 36523881 36523881 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:36523881C>T uc002hqa.2 + 6 1431 c.1308C>T c.(1306-1308)CTC>CTT p.L436L SOCS7_uc010cvl.2_Silent_p.L402L|SOCS7_uc002hqb.2_RNA NM_014598 NP_055413 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 436 Mediates interaction with SORBS3.|SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding skin(1) 1 Breast(7;3.47e-17) TCCTGAGCCTCAGTTTCCGAT 0.483 NaN 0 0 0 1 0 17 42 IKZF3 22806 broad.mit.edu 37 17 37949123 37949123 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:37949123G>A uc002hsu.2 - 4 289 c.227C>T c.(226-228)CCC>CTC p.P76L IKZF3_uc002htd.2_Missense_Mutation_p.P42L|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.P42L|IKZF3_uc010cwe.2_Missense_Mutation_p.P76L|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.P76L|IKZF3_uc002hsx.2_Missense_Mutation_p.P76L|IKZF3_uc002hsy.2_Missense_Mutation_p.P76L|IKZF3_uc002hsz.2_Missense_Mutation_p.P76L|IKZF3_uc002hta.2_Missense_Mutation_p.P76L|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_5'UTR NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 76 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ATTTCCCATGGGTTCTGACTT 0.353 NaN 0 0 0 1 0 29 47 HCRT 3060 broad.mit.edu 37 17 40336367 40336367 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:40336367G>C uc002hzc.1 - 2 288 c.201C>G c.(199-201)GGC>GGG p.G67G NM_001524 NP_001515 O43612 OREX_HUMAN orexin precursor 67 neuropeptide signaling pathway cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle 0 all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069) BRCA - Breast invasive adenocarcinoma(366;0.124) ACCTCCGCTTGCCCAGCGTGA 0.726 NaN 0 0 0 1 0 6 4 DBF4B 80174 broad.mit.edu 37 17 42828010 42828010 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:42828010G>C uc002ihf.2 + 14 1450 c.1237G>C c.(1237-1239)GAT>CAT p.D413H DBF4B_uc010wjc.1_Missense_Mutation_p.D397H NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 413 cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) AGAATCACTAGATGGTGTGAT 0.607 NaN 0 0 0 1 0 13 40 KIAA1267 284058 broad.mit.edu 37 17 44159875 44159875 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:44159875C>G uc002ikb.2 - 3 1550 c.1465G>C c.(1465-1467)GAG>CAG p.E489Q KIAA1267_uc002ikc.2_Missense_Mutation_p.E489Q|KIAA1267_uc002ikd.2_Missense_Mutation_p.E489Q|KIAA1267_uc010dav.2_Missense_Mutation_p.E489Q NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 489 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) GTTGTATGCTCTGGGGGAGGT 0.398 NaN 0 0 0 1 0 28 27 COPZ2 51226 broad.mit.edu 37 17 46111232 46111232 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:46111232C>T uc002imy.2 - 7 278 c.265G>A c.(265-267)GAG>AAG p.E89K NM_016429 NP_057513 Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 89 intracellular protein transport|vesicle-mediated transport cis-Golgi network|COPI vesicle coat 0 CACTTACTCTCAGTCCGGCTG 0.483 NaN 0 0 0 1 0 7 5 XYLT2 64132 broad.mit.edu 37 17 48431301 48431301 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:48431301G>T uc002iqo.2 + 2 555 c.446G>T c.(445-447)GGC>GTC p.G149V XYLT2_uc010dbo.2_RNA NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 149 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) AGCGTGGAGGGCGCCCCCCAG 0.687 NaN 1 0 4.68919e-08 1 4.947e-08 9 28 EPN3 55040 broad.mit.edu 37 17 48616645 48616645 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:48616645G>C uc002ira.3 + 5 1295 c.860G>C c.(859-861)AGA>ACA p.R287T EPN3_uc010wms.1_Missense_Mutation_p.R315T|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.R260T NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 287 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) AGAGAAGAGAGAAAGGAGGAG 0.542 NaN 0 0 0 1 0 10 36 TEX14 56155 broad.mit.edu 37 17 56693643 56693643 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:56693643C>G uc010dcz.1 - 7 796 c.678G>C c.(676-678)CAG>CAC p.Q226H TEX14_uc002iwr.1_Missense_Mutation_p.Q220H|TEX14_uc002iws.1_Missense_Mutation_p.Q220H|TEX14_uc010dda.1_5'UTR NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 226 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) GATAGGCCATCTGTGTCGCCC 0.478 NaN 0 0 0 1 0 10 66 CLTC 1213 broad.mit.edu 37 17 57743482 57743482 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:57743482G>A uc002ixq.1 + 11 2106 c.1663G>A c.(1663-1665)GAA>AAA p.E555K CLTC_uc002ixp.2_Missense_Mutation_p.E555K|CLTC_uc002ixr.1_Missense_Mutation_p.E559K NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 555 Heavy chain arm.|Distal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TGTCTTTATGGAATACAATCT 0.333 NaN T ALK|TFE3 ALCL|renal 0 0 0 1 0 9 26 TBX4 9496 broad.mit.edu 37 17 59560332 59560332 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:59560332C>T uc002izi.2 + 8 1138 c.1093C>T c.(1093-1095)CAC>TAC p.H365Y TBX4_uc010ddo.2_Missense_Mutation_p.H366Y|TBX4_uc010woy.1_Missense_Mutation_p.H366Y NM_018488 NP_060958 P57082 TBX4_HUMAN T-box 4 365 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 GGGGGAGGATCACTATTTCCG 0.552 NaN 0 0 0 1 0 9 26 TANC2 26115 broad.mit.edu 37 17 61488930 61488930 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:61488930G>A uc002jal.3 + 20 3449 c.3426G>A c.(3424-3426)TTG>TTA p.L1142L TANC2_uc010wpe.1_Silent_p.L1052L|TANC2_uc002jao.3_Silent_p.L243L NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 1142 ANK 9. binding ovary(2) 2 GGGCTTGTTTGAAGGGCCATC 0.527 NaN 0 0 0 1 0 23 66 ABCA9 10350 broad.mit.edu 37 17 67023212 67023212 + Nonsense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:67023212G>C uc002jhu.2 - 15 2098 c.1955C>G c.(1954-1956)TCA>TGA p.S652* ABCA9_uc010dez.2_Nonsense_Mutation_p.S652* NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 652 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TCGGTGCCTTGAAAGAGGATC 0.438 NaN 0 0 0 1 0 24 46 C17orf80 55028 broad.mit.edu 37 17 71231891 71231891 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:71231891G>T uc002jjm.3 + 3 464 c.270G>T c.(268-270)GTG>GTT p.V90V C17orf80_uc010wqu.1_Silent_p.V90V|C17orf80_uc010dfj.2_Silent_p.V90V|C17orf80_uc002jjk.1_Silent_p.V90V|C17orf80_uc002jjl.3_Silent_p.V90V NM_017941 NP_060411 Q9BSJ5 CQ080_HUMAN lung cancer-related protein 8 isoform a 90 Extracellular (Potential). integral to membrane skin(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) AACAGACAGTGAAGACCTTTC 0.388 NaN 1 0 5.03518e-11 1 5.42456e-11 19 36 KIF19 124602 broad.mit.edu 37 17 72350300 72350300 + Splice_Site SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:72350300G>C uc002jkm.3 + 18 2447 c.2309_splice c.e18-1 p.E770_splice NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 TCCCGCTGCAGAGAGGAAGGA 0.587 NaN 0 0 0 1 0 21 76 GPR142 350383 broad.mit.edu 37 17 72366737 72366737 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:72366737G>C uc010wqy.1 + 3 436 c.436G>C c.(436-438)GAG>CAG p.E146Q GPR142_uc010wqx.1_Missense_Mutation_p.E58Q NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 146 Extracellular (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CCACTGGCCAGAGATCGCAGA 0.647 NaN 0 0 0 1 0 15 33 KIAA0195 9772 broad.mit.edu 37 17 73491026 73491026 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:73491026C>G uc002jnz.3 + 20 2914 c.2639C>G c.(2638-2640)TCC>TGC p.S880C KIAA0195_uc010wsa.1_Missense_Mutation_p.S890C|KIAA0195_uc010wsb.1_Missense_Mutation_p.S520C|KIAA0195_uc002job.3_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 880 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCCACATCTCCCTCACACCC 0.582 NaN 0 0 0 1 0 36 80 H3F3B 3021 broad.mit.edu 37 17 73775024 73775024 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:73775024C>G uc002jpl.2 - 3 282 c.149G>C c.(148-150)CGA>CCA p.R50P NM_005324 NP_005315 P84243 H33_HUMAN H3 histone, family 3B 50 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding ovary(1) 1 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) ACGAATCTCTCGAAGCGCCAC 0.652 NaN OREG0024740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 11 35 UNC13D 201294 broad.mit.edu 37 17 73830498 73830498 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:73830498G>A uc002jpp.2 - 23 2586 c.2206C>T c.(2206-2208)CAG>TAG p.Q736* UNC13D_uc010wsk.1_Nonsense_Mutation_p.Q736*|UNC13D_uc002jpq.1_Nonsense_Mutation_p.Q386* NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D 736 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TTCTGCAGCTGCCCCTGCTCC 0.692 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 1 0 10 3 QRICH2 84074 broad.mit.edu 37 17 74274098 74274098 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:74274098G>C uc002jrd.1 - 15 4771 c.4591C>G c.(4591-4593)CAG>GAG p.Q1531E QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Missense_Mutation_p.Q375E NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1531 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 CCCAGGCACTGGGCGTGCAGC 0.627 NaN 0 0 0 1 0 24 71 EIF4A3 9775 broad.mit.edu 37 17 78111251 78111251 + Nonsense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:78111251G>C uc010wuc.1 - 10 990 c.917C>G c.(916-918)TCA>TGA p.S306* EIF4A3_uc002jxs.2_Nonsense_Mutation_p.S306* NM_014740 NP_055555 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A, 306 Helicase C-terminal. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) TCCATGCATTGAGGATACAGT 0.532 NaN 0 0 0 1 0 12 15 PYCR1 5831 broad.mit.edu 37 17 79893381 79893381 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:79893381C>T uc002kcr.1 - 3 428 c.150G>A c.(148-150)GTG>GTA p.V50V PYCR1_uc002kcq.1_Silent_p.V50V|PYCR1_uc002kcp.2_Silent_p.V50V|PYCR1_uc002kcs.1_Silent_p.V50V|PYCR1_uc010wvd.1_Silent_p.V77V|PYCR1_uc002kct.1_Silent_p.V50V|PYCR1_uc002kcu.1_Silent_p.V50V|PYCR1_uc010wve.1_Silent_p.V3V NM_006907 NP_008838 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 isoform 1 50 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) GTGTCAACTTCACCCCCATCT 0.582 NaN 0 0 0 1 0 6 16 CLUL1 27098 broad.mit.edu 37 18 641518 641518 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:641518G>C uc002kkp.2 + 7 1331 c.1186G>C c.(1186-1188)GAG>CAG p.E396Q CLUL1_uc010wys.1_Missense_Mutation_p.E448Q|CLUL1_uc002kkq.2_Missense_Mutation_p.E396Q NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 396 cell death extracellular region ovary(2) 2 CCCAGAAACAGAGATCATCTT 0.458 NaN 0 0 0 1 0 20 29 MYOM1 8736 broad.mit.edu 37 18 3129355 3129355 + Missense_Mutation SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:3129355T>A uc002klp.2 - 18 3003 c.2669A>T c.(2668-2670)AAC>ATC p.N890I MYOM1_uc002klq.2_Intron NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 890 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 TTGGCCCAGGTTTTGAGAGCT 0.522 NaN OREG0024838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 39 122 RAB12 201475 broad.mit.edu 37 18 8624969 8624969 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:8624969G>C uc002knp.2 + 2 543 c.260G>C c.(259-261)AGA>ACA p.R87T NM_001025300 NP_001020471 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 87 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding 0 GTAGAGCTAAGAGGAAAGAAA 0.333 NaN 0 0 0 1 0 31 130 KIAA0802 23255 broad.mit.edu 37 18 8793020 8793020 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:8793020G>C uc002knr.2 + 8 2054 c.1912G>C c.(1912-1914)GAG>CAG p.E638Q KIAA0802_uc002knq.2_Intron|KIAA0802_uc002kns.2_Intron NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 CGTTTTACCTGAGCAGAGTGT 0.527 NaN 0 0 0 1 0 40 130 SEH1L 81929 broad.mit.edu 37 18 12948141 12948141 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:12948141C>T uc002krr.2 + 1 159 c.21C>T c.(19-21)ATC>ATT p.I7I SEH1L_uc002krq.2_Silent_p.I7I NM_031216 NP_112493 Q96EE3 SEH1_HUMAN sec13-like protein isoform 2 7 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex 0 CTCGCAGCATCGCGGCGGACC 0.672 NaN 0 0 0 1 0 7 14 IMPACT 55364 broad.mit.edu 37 18 22008854 22008854 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:22008854C>G uc002kvh.3 + 3 299 c.187C>G c.(187-189)CCA>GCA p.P63A IMPACT_uc002kvg.3_Missense_Mutation_p.P45A NM_018439 NP_060909 Q9P2X3 IMPCT_HUMAN Impact homolog 63 RWD. 0 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) GAATGAATACCCAGGTACAGC 0.353 NaN 0 0 0 1 0 12 48 MYO5B 4645 broad.mit.edu 37 18 47404156 47404156 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:47404156C>T uc002leb.2 - 25 3661 c.3373G>A c.(3373-3375)GAG>AAG p.E1125K MYO5B_uc002lea.2_Missense_Mutation_p.E266K NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1125 Potential. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) AGGGCATCCTCAGTGTCTCCG 0.512 NaN 0 0 0 1 0 53 28 SERPINB2 5055 broad.mit.edu 37 18 61570328 61570328 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:61570328G>A uc010xeu.1 + 9 1370 c.1037G>A c.(1036-1038)AGG>AAG p.R346K SERPINB2_uc002ljo.2_Missense_Mutation_p.R346K|SERPINB2_uc010dqh.2_Missense_Mutation_p.R276K|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 346 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) ATGTCGGAGAGGAATGACCTG 0.507 NaN 0 0 0 1 0 8 28 CDH7 1005 broad.mit.edu 37 18 63526160 63526160 + Splice_Site SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:63526160G>C uc002ljz.2 + 9 1698 c.1373_splice c.e9-1 p.Q458_splice CDH7_uc002lka.2_Splice_Site_p.Q458_splice|CDH7_uc002lkb.2_Splice_Site_p.Q458_splice NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TTATTTATTAGAGAATCCATC 0.373 NaN 0 0 0 1 0 13 20 NETO1 81832 broad.mit.edu 37 18 70532056 70532056 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:70532056G>C uc002lkw.2 - 3 491 c.207C>G c.(205-207)ATC>ATG p.I69M NETO1_uc002lkx.1_Missense_Mutation_p.I68M|NETO1_uc002lky.1_Missense_Mutation_p.I69M|NETO1_uc002lkz.2_Missense_Mutation_p.I68M NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 69 CUB 1.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CTATGATGTAGATGCATTCCC 0.473 NaN 0 0 0 1 0 17 36 CNDP1 84735 broad.mit.edu 37 18 72226648 72226648 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:72226648G>T uc002llq.2 + 3 455 c.244G>T c.(244-246)GCG>TCG p.A82S uc002llr.2_RNA NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN carnosinase 1 precursor 82 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity 0 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) GGCCGTGGCTGCGGACACGCT 0.622 NaN 1 0 0.000602214 1 0.000612452 5 51 ZNF407 55628 broad.mit.edu 37 18 72345042 72345042 + Silent SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr18:72345042C>A uc002llw.2 + 1 2124 c.2067C>A c.(2065-2067)TCC>TCA p.S689S ZNF407_uc010xfc.1_Silent_p.S689S|ZNF407_uc010dqu.1_Silent_p.S689S|ZNF407_uc002llu.2_Silent_p.S688S NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 689 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CTCTGAAGTCCAGGGTAAGCC 0.398 NaN 1 0 6.40141e-05 1 6.58264e-05 11 33 PTBP1 5725 broad.mit.edu 37 19 804643 804643 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:804643G>A uc002lpr.2 + 6 653 c.547G>A c.(547-549)GTG>ATG p.V183M PTBP1_uc002lpp.2_Missense_Mutation_p.V183M|PTBP1_uc002lpq.2_Missense_Mutation_p.V183M|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.V153M NM_031991 NP_114368 P26599 PTBP1_HUMAN polypyrimidine tract-binding protein 1 isoform 183 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding kidney(1)|skin(1) 2 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGAGCCCCGTGCTCAGGAT 0.677 NaN 0 0 0 1 0 18 25 KLF16 83855 broad.mit.edu 37 19 1863162 1863162 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:1863162G>C uc002luc.2 - 1 403 c.335C>G c.(334-336)TCG>TGG p.S112W KLF16_uc010xgt.1_RNA NM_031918 NP_114124 Q9BXK1 KLF16_HUMAN BTE-binding protein 4 112 Ser-rich.|Ala/Pro-rich. nucleus DNA binding|zinc ion binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ggcgcggcccgaggacgggga 0.448 NaN 0 0 0 1 0 2 0 DOT1L 84444 broad.mit.edu 37 19 2217074 2217074 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:2217074G>C uc002lvb.3 + 21 2565 c.2529G>C c.(2527-2529)GAG>GAC p.E843D DOT1L_uc002lvc.1_Missense_Mutation_p.E137D|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.E137D NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 843 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) TTGCTGGAGAGAAGAGCAGTG 0.687 NaN 0 0 0 1 0 6 16 DPP9 91039 broad.mit.edu 37 19 4689638 4689638 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:4689638C>T uc002mba.2 - 15 1951 c.1693G>A c.(1693-1695)GGC>AGC p.G565S NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 536 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) ACGATCTCGCCGGCCGCCTCA 0.652 NaN 0 0 0 1 0 2 2 RANBP3 8498 broad.mit.edu 37 19 5927994 5927994 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:5927994C>G uc002mdw.2 - 9 1025 c.798G>C c.(796-798)TTG>TTC p.L266F RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.L261F|RANBP3_uc002mdy.2_Missense_Mutation_p.L198F|RANBP3_uc002mdz.2_Missense_Mutation_p.L193F|RANBP3_uc010duq.2_Missense_Mutation_p.L171F|RANBP3_uc002mea.2_Missense_Mutation_p.L133F|RANBP3_uc010xix.1_Missense_Mutation_p.L138F NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 isoform RANBP3-d 266 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1) 1 CTCTGTCCCTCAAGTTCTGCC 0.463 NaN 0 0 0 1 0 74 55 TUBB4 10382 broad.mit.edu 37 19 6495749 6495749 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:6495749G>C uc002mfg.1 - 4 868 c.761C>G c.(760-762)GCC>GGC p.A254G TUBB4_uc002mff.1_Missense_Mutation_p.A182G|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 254 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) CATGTTGACGGCCAGCTTGCG 0.682 NaN 0 0 0 1 0 18 110 TNFSF14 8740 broad.mit.edu 37 19 6665079 6665079 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:6665079G>A uc002mfk.1 - 5 963 c.581C>T c.(580-582)TCC>TTC p.S194F TNFSF14_uc002mfj.1_Missense_Mutation_p.S158F NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 194 Extracellular (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 CCAGACCCGGGAGCTGCTGGT 0.657 NaN 0 0 0 1 0 26 56 PNPLA6 10908 broad.mit.edu 37 19 7615490 7615490 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:7615490G>A uc010xjq.1 + 18 2256 c.2061G>A c.(2059-2061)CTG>CTA p.L687L PNPLA6_uc002mgq.1_Silent_p.L639L|PNPLA6_uc010xjp.1_Silent_p.L613L|PNPLA6_uc002mgr.1_Silent_p.L639L|PNPLA6_uc002mgs.2_Silent_p.L678L NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 678 Cytoplasmic (Potential).|cNMP 3. cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 AGAAGGAGCTGGTGGGCGAGT 0.662 NaN 0 0 0 1 0 17 22 OR2Z1 284383 broad.mit.edu 37 19 8841489 8841489 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:8841489C>T uc010xkg.1 + 1 99 c.99C>T c.(97-99)GTC>GTT p.V33V NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 TGGTGGCTGTCATGTTTGTCA 0.552 NaN 0 0 0 1 0 36 66 MUC16 94025 broad.mit.edu 37 19 8969428 8969428 + Splice_Site SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:8969428C>G uc002mkp.2 - 79 43121 c.42917_splice c.e79-1 p.E14306_splice MUC16_uc010dwi.2_Splice_Site|MUC16_uc010dwj.2_Splice_Site_p.E1106_splice|MUC16_uc010xki.1_Splice_Site NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 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 GACTCCATTTCTAGAATTAAA 0.403 NaN 0 0 0 1 0 24 16 MUC16 94025 broad.mit.edu 37 19 9083460 9083460 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:9083460C>G uc002mkp.2 - 1 8559 c.8355G>C c.(8353-8355)GTG>GTC p.V2785V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2785 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTAGTGGCATCACAGATGCCC 0.502 NaN 0 0 0 1 0 8 40 TYK2 7297 broad.mit.edu 37 19 10476364 10476364 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:10476364C>G uc002moc.3 - 7 1218 c.840G>C c.(838-840)CTG>CTC p.L280L TYK2_uc010dxe.2_Silent_p.L95L|TYK2_uc002mod.2_Silent_p.L280L NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 280 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) CCAGCAGCCTCAGGTGGCACA 0.687 NaN 0 0 0 1 0 16 30 TYK2 7297 broad.mit.edu 37 19 10478979 10478979 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:10478979G>A uc002moc.3 - 4 687 c.309C>T c.(307-309)TTC>TTT p.F103F TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.F103F NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 103 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) ACCTTATGCGGAAATATAGCA 0.557 NaN 0 0 0 1 0 76 92 DNM2 1785 broad.mit.edu 37 19 10930726 10930726 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:10930726C>T uc002mps.1 + 16 1906 c.1742C>T c.(1741-1743)TCC>TTC p.S581F DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.S581F|DNM2_uc002mpv.1_Missense_Mutation_p.S577F|DNM2_uc002mpu.1_Missense_Mutation_p.S577F|DNM2_uc010dxl.1_Missense_Mutation_p.S581F|DNM2_uc002mpw.2_Missense_Mutation_p.S310F|uc010xlj.1_5'Flank|MIR199A1_hsa-mir-199a-1|MI0000242_5'Flank NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 581 PH. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GGCTTCATGTCCAACAAGCAC 0.562 NaN 0 0 0 1 0 32 103 SMARCA4 6597 broad.mit.edu 37 19 11138491 11138491 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:11138491G>A uc002mqf.3 + 24 3531 c.3247G>A c.(3247-3249)GAG>AAG p.E1083K SMARCA4_uc010dxp.2_Missense_Mutation_p.E1083K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1083K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E1083K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1083K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1083K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1083K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1083K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E303K|SMARCA4_uc002mqh.3_Missense_Mutation_p.E206K|SMARCA4_uc002mqi.1_Missense_Mutation_p.E286K NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1083 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(2) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGGTAAATTTGAGCTTCTTGA 0.517 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 1 0 64 66 ZNF491 126069 broad.mit.edu 37 19 11917579 11917579 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:11917579C>G uc002mso.1 + 3 1096 c.811C>G c.(811-813)CAT>GAT p.H271D NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 271 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AGAGAGGCCTCATAAATGTAA 0.408 NaN 0 0 0 1 0 39 54 ZNF878 729747 broad.mit.edu 37 19 12155622 12155622 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:12155622G>A uc002mta.1 - 5 735 c.735C>T c.(733-735)CCC>CCT p.P245P NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 TACATTCATAGGGTTTTTTTG 0.388 NaN 0 0 0 1 0 114 121 ZNF878 729747 broad.mit.edu 37 19 12156003 12156003 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:12156003G>C uc002mta.1 - 5 354 c.354C>G c.(352-354)CTC>CTG p.L118L NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 TACTTTCAGAGAGTCTCTCCC 0.353 NaN 0 0 0 1 0 10 16 ZNF878 729747 broad.mit.edu 37 19 12157504 12157504 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:12157504C>A uc002mta.1 - 3 216 c.216G>T c.(214-216)CAG>CAT p.Q72H NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 25 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AGAGATTTTTCTGGGAAGGAT 0.478 NaN 1 0 2.02627e-32 1 2.28715e-32 67 88 CC2D1A 54862 broad.mit.edu 37 19 14040949 14040949 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:14040949G>C uc002mxo.2 + 27 3068 c.2769G>C c.(2767-2769)CTG>CTC p.L923L CC2D1A_uc002mxp.2_Silent_p.L922L|CC2D1A_uc010dzh.2_Silent_p.L492L NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 923 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) CCCGGCGCCTGGGCAACGATG 0.692 NaN 0 0 0 1 0 10 46 CYP4F8 11283 broad.mit.edu 37 19 15728816 15728816 + Silent SNP T T G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:15728816T>G uc002nbi.2 + 3 268 c.204T>G c.(202-204)ACT>ACG p.T68T CYP4F8_uc010xoi.1_Silent_p.T68T|CYP4F8_uc010xoj.1_Intron NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 68 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 TGCAGGTCACTCCCACAGAGG 0.413 NaN 0 0 0 1 0 11 47 USE1 55850 broad.mit.edu 37 19 17327021 17327021 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:17327021C>G uc002nfo.2 + 4 335 c.275C>G c.(274-276)CCT>CGT p.P92R USE1_uc002nfn.2_Missense_Mutation_p.P92R|USE1_uc010eal.1_Missense_Mutation_p.P92R NM_018467 NP_060937 Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog 92 Cytoplasmic (Potential). lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding 0 TTCCTGGCCCCTGGCCGTGTG 0.607 NaN 0 0 0 1 0 10 45 GTPBP3 84705 broad.mit.edu 37 19 17452366 17452366 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:17452366C>G uc010eas.2 + 9 1398 c.1333C>G c.(1333-1335)CTC>GTC p.L445V GTPBP3_uc010xpo.1_Missense_Mutation_p.L467V|GTPBP3_uc002ngh.3_Missense_Mutation_p.L424V|GTPBP3_uc002ngg.3_Missense_Mutation_p.L477V|GTPBP3_uc002ngi.3_Missense_Mutation_p.L111V NM_032620 NP_116009 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) isoform V 445 tRNA modification mitochondrion GTP binding|GTPase activity skin(1) 1 CCTGGATGCCCTCGGCCACTA 0.657 NaN 0 0 0 1 0 20 55 NXNL1 115861 broad.mit.edu 37 19 17571379 17571379 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:17571379G>T uc002ngs.2 - 1 347 c.300C>A c.(298-300)TTC>TTA p.F100L NM_138454 NP_612463 Q96CM4 NXNL1_HUMAN nucleoredoxin-like 1 100 Thioredoxin. cell redox homeostasis nuclear outer membrane 0 CAAAGGGCAGGAAAAGCCATT 0.378 NaN 1 0 6.38683e-12 1 6.92474e-12 26 28 MPV17L2 84769 broad.mit.edu 37 19 18304802 18304802 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:18304802C>T uc002nid.2 + 2 368 c.316C>T c.(316-318)CAG>TAG p.Q106* MPV17L2_uc010ebj.2_Nonsense_Mutation_p.Q42* NM_032683 NP_116072 Q567V2 M17L2_HUMAN MPV17 mitochondrial membrane protein-like 2 106 Helical; (Potential). integral to membrane 0 CCTCGTGGATCAGCTGGTAGC 0.592 NaN 0 0 0 1 0 13 34 SLC25A42 284439 broad.mit.edu 37 19 19218757 19218757 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:19218757G>A uc002nlf.1 + 7 703 c.552G>A c.(550-552)AAG>AAA p.K184K NM_178526 NP_848621 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 184 Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) AGGGGCTGAAGACTCTCTACC 0.562 NaN 0 0 0 1 0 84 66 ZNF99 7652 broad.mit.edu 37 19 22939880 22939880 + Silent SNP A A T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:22939880A>T uc010xrh.1 - 6 2451 c.2451T>A c.(2449-2451)CTT>CTA p.L817L NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATGTTTCTTAAGGGTTGAGG 0.383 NaN 0 0 0 1 0 16 102 C19orf40 91442 broad.mit.edu 37 19 33467501 33467501 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:33467501G>C uc002nud.3 + 5 679 c.561G>C c.(559-561)CTG>CTC p.L187L NM_152266 NP_689479 Q9BTP7 FAP24_HUMAN Fanconi anemia-associated protein, 24 kDa 187 RuvA domain 2-like. DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding 0 Esophageal squamous(110;0.137) TCCAGCAACTGAGTAATGCTT 0.557 NaN Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks OREG0025408 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 30 132 SCN1B 6324 broad.mit.edu 37 19 35530030 35530030 + Missense_Mutation SNP A A T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:35530030A>T uc002nxp.2 + 4 649 c.458A>T c.(457-459)GAC>GTC p.D153V SCN1B_uc010xsg.1_Missense_Mutation_p.D82V|HPN_uc002nxq.1_5'Flank|HPN_uc002nxr.1_5'Flank|HPN_uc002nxs.1_5'Flank NM_001037 NP_001028 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta 153 Extracellular (Potential). axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCCAACAGAGACATGGCATCC 0.363 NaN 0 0 0 1 0 97 85 DMKN 93099 broad.mit.edu 37 19 36002341 36002341 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:36002341C>A uc002nzm.3 - 5 1073 c.890G>T c.(889-891)AGA>ATA p.R297I DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_RNA|DMKN_uc002oac.3_Missense_Mutation_p.R297I|DMKN_uc010eeb.2_Missense_Mutation_p.R297I|DMKN_uc002oaa.3_Missense_Mutation_p.R297I|DMKN_uc002oab.3_Missense_Mutation_p.R297I NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN dermokine isoform 2 precursor 297 Gly-rich. extracellular region large_intestine(1)|ovary(1)|skin(1) 3 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCTGTCACCTctgctgccacc 0.318 NaN 1 0 0.004672 1 0.00472309 3 23 KIRREL2 84063 broad.mit.edu 37 19 36357214 36357214 + Silent SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:36357214C>A uc002ocb.3 + 15 2159 c.1947C>A c.(1945-1947)GTC>GTA p.V649V KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Silent_p.V596V|KIRREL2_uc002ocd.3_Silent_p.V611V|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 649 Pro-rich.|Cytoplasmic (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGGCATGGTCCCCCCCTGCA 0.627 NaN 1 0 1.37285e-15 1 1.51267e-15 17 106 WDR62 284403 broad.mit.edu 37 19 36593683 36593683 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:36593683G>A uc002odc.2 + 27 3341 c.3250G>A c.(3250-3252)GAA>AAA p.E1084K WDR62_uc002odd.2_Missense_Mutation_p.E1089K NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 1084 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTCTGAAGCTGAAGACCACTT 0.617 NaN 0 0 0 1 0 15 54 COX7A1 1346 broad.mit.edu 37 19 36642380 36642380 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:36642380C>T uc002odm.1 - 3 633 c.171G>A c.(169-171)ATG>ATA p.M57I NM_001864 NP_001855 P24310 CX7A1_HUMAN cytochrome c oxidase subunit VIIa polypeptide 1 57 Helical; (By similarity). generation of precursor metabolites and energy integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GACACAGCGTCATTGTCACTC 0.617 NaN 0 0 0 1 0 9 77 MAP4K1 11184 broad.mit.edu 37 19 39103253 39103253 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:39103253G>C uc002oix.1 - 9 771 c.663C>G c.(661-663)CTC>CTG p.L221L MAP4K1_uc002oiy.1_Silent_p.L221L|MAP4K1_uc010xug.1_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 221 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTGCCTACCTGAGAGGGTGCA 0.607 NaN 0 0 0 1 0 30 26 ACTN4 81 broad.mit.edu 37 19 39208629 39208629 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:39208629G>A uc002oja.1 + 11 1265 c.1206G>A c.(1204-1206)CTG>CTA p.L402L ACTN4_uc010egc.1_Silent_p.L402L NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 402 Spectrin 1. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGTGGCTGCTGAATGAGATCC 0.627 NaN 0 0 0 1 0 5 10 NFKBIB 4793 broad.mit.edu 37 19 39396010 39396010 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:39396010C>T uc002ojw.2 + 3 512 c.454C>T c.(454-456)CGG>TGG p.R152W NFKBIB_uc002ojx.2_Missense_Mutation_p.R120W|NFKBIB_uc002ojy.2_Missense_Mutation_p.R152W NM_002503 NP_002494 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene 152 ANK 3. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity lung(1)|kidney(1) 2 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCCCCGCCCCCGGCGCCCCAG 0.711 NaN 0 0 0 1 0 44 21 FCGBP 8857 broad.mit.edu 37 19 40368511 40368511 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:40368511G>A uc002omp.3 - 28 12845 c.12837C>T c.(12835-12837)TTC>TTT p.F4279F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4279 VWFD 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGGGTCCGCAGAAGCCAGGGC 0.642 NaN 0 0 0 1 0 9 29 FCGBP 8857 broad.mit.edu 37 19 40433168 40433168 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:40433168G>A uc002omp.3 - 2 1109 c.1101C>T c.(1099-1101)ATC>ATT p.I367I NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 367 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCAGCCCGCTGATAGCCTTCG 0.612 NaN 0 0 0 1 0 20 42 SPTBN4 57731 broad.mit.edu 37 19 41066206 41066206 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:41066206G>A uc002ony.2 + 27 5898 c.5812G>A c.(5812-5814)GTC>ATC p.V1938I SPTBN4_uc002onx.2_Missense_Mutation_p.V1938I|SPTBN4_uc002onz.2_Missense_Mutation_p.V1938I|SPTBN4_uc010egx.2_Missense_Mutation_p.V681I|SPTBN4_uc002ooa.2_Missense_Mutation_p.V614I NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1938 Spectrin 16. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCGCCTGCATGTCAGCTCCAC 0.647 NaN 0 0 0 1 0 33 120 CYP2A6 1548 broad.mit.edu 37 19 41352802 41352802 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:41352802G>C uc002opl.3 - 5 830 c.809C>G c.(808-810)TCC>TGC p.S270C CYP2A6_uc010ehe.1_Missense_Mutation_p.S66C|CYP2A6_uc010ehf.1_RNA NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 270 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GATGAGAAAGGAGTCAATGAA 0.582 NaN 0 0 0 1 0 9 76 ZNF574 64763 broad.mit.edu 37 19 42585402 42585402 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:42585402G>C uc002osm.3 + 2 2813 c.2644G>C c.(2644-2646)GAG>CAG p.E882Q ZNF574_uc002osk.3_Missense_Mutation_p.E972Q NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 882 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GGAAGCCATTGAGATCTACCC 0.642 NaN 0 0 0 1 0 50 48 ZNF526 116115 broad.mit.edu 37 19 42728831 42728831 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:42728831G>A uc002osz.1 + 3 432 c.276G>A c.(274-276)CAG>CAA p.Q92Q NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) TGACCACACAGAATGTTGGCC 0.617 NaN 0 0 0 1 0 37 63 MEGF8 1954 broad.mit.edu 37 19 42837807 42837807 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:42837807G>A uc002otl.3 + 2 873 c.238G>A c.(238-240)GAG>AAG p.E80K NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 80 Extracellular (Potential).|CUB 1. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) CCTGGACACAGAGTGCACGTA 0.617 NaN 0 0 0 1 0 21 90 ZNF45 7596 broad.mit.edu 37 19 44418392 44418392 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:44418392C>T uc002oxu.1 - 4 1295 c.1196G>A c.(1195-1197)CGG>CAG p.R399Q ZNF45_uc002oxw.1_Missense_Mutation_p.R399Q|ZNF45_uc002oxv.1_Missense_Mutation_p.R399Q NM_003425 NP_003416 Q02386 ZNF45_HUMAN zinc finger protein 45 399 C2H2-type 9. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 ATTTGAGGCCCGGCAGAAGCC 0.502 NaN 0 0 0 1 0 53 85 ZNF223 7766 broad.mit.edu 37 19 44570825 44570825 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:44570825C>G uc002oyf.1 + 5 1097 c.844C>G c.(844-846)CAC>GAC p.H282D ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 282 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) TCAGAGAATTCACACAGGGGA 0.423 NaN 0 0 0 1 0 112 188 ZNF223 7766 broad.mit.edu 37 19 44571219 44571219 + Nonsense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:44571219C>G uc002oyf.1 + 5 1491 c.1238C>G c.(1237-1239)TCA>TGA p.S413* ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 413 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) AGACAGGCCTCAAGTATTTTG 0.423 NaN 0 0 0 1 0 13 131 ERCC1 2067 broad.mit.edu 37 19 45926592 45926592 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:45926592G>A uc002pbs.1 - 2 187 c.41C>T c.(40-42)TCA>TTA p.S14L ERCC1_uc002pbt.1_Missense_Mutation_p.S14L|ERCC1_uc002pbu.1_Missense_Mutation_p.S14L|ERCC1_uc002pbv.2_Missense_Mutation_p.S14L NM_001983 NP_001974 P07992 ERCC1_HUMAN excision repair cross-complementing 1 isofrom 2 14 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding ovary(2) 2 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) TGGCGGCCCTGAGGGCTGGGG 0.622 NaN NER 0 0 0 1 0 5 19 PNMAL2 57469 broad.mit.edu 37 19 46998632 46998632 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:46998632C>T uc002pes.2 - 1 538 c.91G>A c.(91-93)GAG>AAG p.E31K uc002peu.1_3'UTR NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 31 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) tctgcctgctccaggccctcc 0.03 NaN 0 0 0 1 0 18 65 PRKD2 25865 broad.mit.edu 37 19 47195050 47195050 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:47195050G>A uc002pfh.2 - 13 1986 c.1644C>T c.(1642-1644)GTC>GTT p.V548V PRKD2_uc002pfd.2_5'Flank|PRKD2_uc010eks.2_5'Flank|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Silent_p.V68V|PRKD2_uc002pff.2_Silent_p.V68V|PRKD2_uc002pfg.2_Silent_p.V391V|PRKD2_uc002pfi.2_Silent_p.V548V|PRKD2_uc002pfj.2_Silent_p.V548V|PRKD2_uc010xye.1_Silent_p.V548V|PRKD2_uc002pfk.2_Silent_p.V391V NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 548 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) AGATCTGGTAGACAGTGGCAA 0.577 NaN 0 0 0 1 0 27 57 GRLF1 2909 broad.mit.edu 37 19 47423316 47423316 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:47423316G>C uc010ekv.2 + 1 1384 c.1384G>C c.(1384-1386)GAG>CAG p.E462Q NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 462 FF 3. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TATTATGAATGAGGATTTCTA 0.403 NaN 0 0 0 1 0 17 37 GRLF1 2909 broad.mit.edu 37 19 47423403 47423403 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:47423403G>C uc010ekv.2 + 1 1471 c.1471G>C c.(1471-1473)GAA>CAA p.E491Q NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 491 FF 4. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) AGCAAAGGAAGAATTTCAGGA 0.368 NaN 0 0 0 1 0 30 54 GRLF1 2909 broad.mit.edu 37 19 47424472 47424472 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:47424472G>C uc010ekv.2 + 1 2540 c.2540G>C c.(2539-2541)AGA>ACA p.R847T NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 847 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TTTAGCATCAGAAAGAGCCGG 0.423 NaN 0 0 0 1 0 65 84 LIG1 3978 broad.mit.edu 37 19 48640828 48640828 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:48640828G>A uc002pia.1 - 13 1325 c.1205C>T c.(1204-1206)TCC>TTC p.S402F LIG1_uc010xze.1_Missense_Mutation_p.S95F|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.S334F|LIG1_uc010xzg.1_Missense_Mutation_p.S371F|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 402 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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 ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GAAGACCCCGGAGGCAGTGAG 0.677 NaN NER 0 0 0 1 0 33 25 LIG1 3978 broad.mit.edu 37 19 48643250 48643250 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:48643250G>C uc002pia.1 - 12 1185 c.1065C>G c.(1063-1065)CTC>CTG p.L355L LIG1_uc010xze.1_Silent_p.L48L|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.L287L|LIG1_uc010xzg.1_Silent_p.L324L|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 355 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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 ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCACTGCCTTGAGAAGGACAC 0.622 NaN NER 0 0 0 1 0 29 123 LIG1 3978 broad.mit.edu 37 19 48660322 48660322 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:48660322C>T uc002pia.1 - 5 439 c.319G>A c.(319-321)GAC>AAC p.D107N LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.D107N|LIG1_uc010xzg.1_Missense_Mutation_p.D77N|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 107 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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 ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GGAGAGGTGTCAGAGAGGGAA 0.577 NaN NER 0 0 0 1 0 20 136 PLEKHA4 57664 broad.mit.edu 37 19 49341304 49341304 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:49341304C>G uc002pkx.2 - 19 2598 c.2047G>C c.(2047-2049)GAG>CAG p.E683Q HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_Nonstop_Mutation_p.*178S|PLEKHA4_uc010eml.2_Nonstop_Mutation_p.*584S NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 683 cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) TGCGACGCCTCAGTAGCCAGG 0.542 NaN 0 0 0 1 0 14 94 GYS1 2997 broad.mit.edu 37 19 49481247 49481247 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:49481247G>C uc002plp.2 - 10 1483 c.1242C>G c.(1240-1242)CCC>CCG p.P414P GYS1_uc010xzy.1_Silent_p.P47P|GYS1_uc010emm.2_Silent_p.P350P|GYS1_uc010xzz.1_Silent_p.P334P|GYS1_uc010yaa.1_RNA NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 414 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TGTTCATGTCGGGAAGGCTCC 0.542 NaN 0 0 0 1 0 13 99 KLK5 25818 broad.mit.edu 37 19 51452167 51452167 + Silent SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:51452167A>G uc002pue.2 - 5 758 c.540T>C c.(538-540)TCT>TCC p.S180S KLK5_uc002puf.2_Silent_p.S180S|KLK5_uc002pug.2_Silent_p.S180S NM_001077491 NP_001070959 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 preproprotein 180 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) TTGTCCCAGCAGAGGGACAAT 0.532 NaN 0 0 0 1 0 32 67 KLK6 5653 broad.mit.edu 37 19 51466738 51466738 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:51466738C>G uc002pui.2 - 5 525 c.265G>C c.(265-267)GTT>CTT p.V89L KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.V98L|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_5'UTR|KLK6_uc002pul.2_Missense_Mutation_p.V89L|KLK6_uc002pum.2_5'UTR NM_001012964 NP_001012982 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 isoform A 89 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) GCCCGGACAACAGAACTCTGC 0.572 NaN 0 0 0 1 0 13 79 ZNF836 162962 broad.mit.edu 37 19 52663800 52663800 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:52663800C>T uc010ydi.1 - 4 434 c.60G>A c.(58-60)GAG>GAA p.E20E ZNF836_uc010ydj.1_Silent_p.E20E NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTTCCACTCCTCCTGAGAGA 0.438 NaN 0 0 0 1 0 55 195 ZNF534 147658 broad.mit.edu 37 19 52942411 52942411 + Silent SNP G G A rs113700997 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:52942411G>A uc002pzk.2 + 4 1798 c.1737G>A c.(1735-1737)GCG>GCA p.A579A ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.A566A NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 579 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACACCTTGCGCGACATAGGA 0.443 NaN 0 0 0 1 0 4 23 ZNF816A 125893 broad.mit.edu 37 19 53456059 53456059 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:53456059C>G uc002qal.1 - 4 436 c.135G>C c.(133-135)CAG>CAC p.Q45H ZNF321_uc010eqj.2_Missense_Mutation_p.Q29H|ZNF321_uc002qak.1_Missense_Mutation_p.Q29H|ZNF816A_uc002qam.1_Missense_Mutation_p.Q29H NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) ATAAAGCCCTCTGTGCAGGGT 0.458 NaN 0 0 0 1 0 85 223 ZNF665 79788 broad.mit.edu 37 19 53668107 53668107 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:53668107C>T uc010eqm.1 - 4 1736 c.1636G>A c.(1636-1638)GAT>AAT p.D546N NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 481 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TTGCCGCAATCATTACATTTG 0.388 NaN 0 0 0 1 0 175 81 ZNF761 388561 broad.mit.edu 37 19 53958226 53958226 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:53958226G>C uc010eqp.2 + 7 923 c.465G>C c.(463-465)CAG>CAC p.Q155H ZNF761_uc010ydy.1_Missense_Mutation_p.Q101H|ZNF761_uc002qbt.1_Missense_Mutation_p.Q101H NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ACATATTTCAGACCGAAGAGA 0.388 NaN 0 0 0 1 0 79 210 CACNG7 59284 broad.mit.edu 37 19 54444867 54444867 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:54444867G>C uc002qcr.1 + 4 583 c.568G>C c.(568-570)GAG>CAG p.E190Q CACNG7_uc010era.1_Missense_Mutation_p.E190Q NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 190 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CCTACTCAAAGAGGTGACGTC 0.443 NaN 0 0 0 1 0 13 182 TTYH1 57348 broad.mit.edu 37 19 54937898 54937898 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:54937898C>G uc002qfq.2 + 5 779 c.687C>G c.(685-687)CTC>CTG p.L229L TTYH1_uc010yey.1_Silent_p.L278L|TTYH1_uc002qfr.2_Silent_p.L229L|TTYH1_uc002qft.2_Silent_p.L229L|TTYH1_uc002qfu.1_Silent_p.L141L NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 229 Helical; Name=3; (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) TGGTCTGCCTCTTCACCCTCC 0.647 NaN 0 0 0 1 0 15 102 NLRP7 199713 broad.mit.edu 37 19 55435133 55435133 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:55435133G>T uc002qih.3 - 10 2994 c.2918C>A c.(2917-2919)CCT>CAT p.P973H NLRP7_uc002qig.3_Missense_Mutation_p.P1002H|NLRP7_uc002qii.3_Missense_Mutation_p.P1030H|NLRP7_uc010esk.2_3'UTR|NLRP7_uc010esl.2_Missense_Mutation_p.P1058H NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 973 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) ACAGCACGGAGGTGCCGTTGC 0.463 NaN 1 0 2.24893e-16 1 2.48066e-16 42 82 RDH13 112724 broad.mit.edu 37 19 55556446 55556446 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:55556446C>G uc002qio.3 - 7 1177 c.992G>C c.(991-993)AGA>ACA p.R331T RDH13_uc002qip.2_Missense_Mutation_p.R260T|RDH13_uc010esr.1_RNA NM_001145971 NP_001139443 Q8NBN7 RDH13_HUMAN retinol dehydrogenase 13 isoform 1 331 binding|oxidoreductase activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) CAGAGGTTATCTGGGGAGGGG 0.647 NaN 0 0 0 1 0 15 53 ZNF787 126208 broad.mit.edu 37 19 56600188 56600188 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:56600188C>G uc010eth.1 - 3 472 c.353G>C c.(352-354)GGC>GCC p.G118A NM_001002836 NP_001002836 Q6DD87 ZN787_HUMAN zinc finger protein 787 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) GGGCTTCTCGCCCGTGTGGAT 0.682 NaN 0 0 0 1 0 10 12 ZNF543 125919 broad.mit.edu 37 19 57835137 57835137 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:57835137G>C uc002qoi.1 + 2 451 c.106G>C c.(106-108)GAG>CAG p.E36Q NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTTGTATCAGGAGGTGATGCT 0.527 NaN 0 0 0 1 0 26 66 ZNF550 162972 broad.mit.edu 37 19 58058594 58058594 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:58058594C>T uc002qpe.1 - 2 895 c.895G>A c.(895-897)GAG>AAG p.E299K ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN zinc finger protein 550 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TAGGGCTTCTCTCCAGTGTGG 0.478 NaN 0 0 0 1 0 12 44 ZNF544 27300 broad.mit.edu 37 19 58772414 58772414 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:58772414G>C uc010euo.2 + 7 916 c.442G>C c.(442-444)GAG>CAG p.E148Q ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E120Q|ZNF544_uc010yhy.1_Missense_Mutation_p.E120Q|ZNF544_uc002qrt.3_Missense_Mutation_p.E6Q|ZNF544_uc002qru.3_Missense_Mutation_p.E6Q|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) ACTCACCTCAGAGAGACTGTT 0.458 NaN 0 0 0 1 0 28 39 ZNF544 27300 broad.mit.edu 37 19 58772614 58772614 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr19:58772614G>C uc010euo.2 + 7 1116 c.642G>C c.(640-642)GAG>GAC p.E214D ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E186D|ZNF544_uc010yhy.1_Missense_Mutation_p.E186D|ZNF544_uc002qrt.3_Missense_Mutation_p.E72D|ZNF544_uc002qru.3_Missense_Mutation_p.E72D|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AGCACTGTGAGAGTCATCAGT 0.378 NaN 0 0 0 1 0 22 51 KIDINS220 57498 broad.mit.edu 37 2 8933973 8933973 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:8933973G>A uc002qzc.2 - 12 1425 c.1243C>T c.(1243-1245)CAG>TAG p.Q415* KIDINS220_uc010yiv.1_Nonsense_Mutation_p.Q181*|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.Q373*|KIDINS220_uc010yiw.1_Nonsense_Mutation_p.Q416* NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 415 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ATACTCTTCTGATGGCTACAG 0.358 NaN 0 0 0 1 0 7 70 NCOA1 8648 broad.mit.edu 37 2 24952432 24952432 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:24952432C>G uc002rfk.2 + 15 3207 c.2949C>G c.(2947-2949)ATC>ATG p.I983M NCOA1_uc010eye.2_Missense_Mutation_p.I983M|NCOA1_uc002rfi.2_Missense_Mutation_p.I832M|NCOA1_uc002rfj.2_Missense_Mutation_p.I983M|NCOA1_uc002rfl.2_Missense_Mutation_p.I983M NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 983 Interaction with CREBBP. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTTTGATCATGGAAGAAA 0.428 NaN T PAX3 alveolar rhadomyosarcoma 0 0 0 1 0 29 154 NCOA1 8648 broad.mit.edu 37 2 24985619 24985619 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:24985619C>G uc002rfk.2 + 20 4387 c.4129C>G c.(4129-4131)CTC>GTC p.L1377V NCOA1_uc010eye.2_Missense_Mutation_p.L1377V|NCOA1_uc002rfi.2_Missense_Mutation_p.L1226V|NCOA1_uc002rfj.2_Missense_Mutation_p.L1377V|NCOA1_uc002rfl.2_Missense_Mutation_p.L1377V|NCOA1_uc010eyf.2_Intron NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 1377 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTGACCTTCTCAAAACAGA 0.373 NaN T PAX3 alveolar rhadomyosarcoma 0 0 0 1 0 51 261 GPR113 165082 broad.mit.edu 37 2 26532908 26532908 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:26532908C>G uc002rhe.3 - 13 3144 c.3144G>C c.(3142-3144)GTG>GTC p.V1048V GPR113_uc010yky.1_Intron|GPR113_uc002rhb.1_Intron|GPR113_uc010eyk.1_Intron|GPR113_uc002rhc.1_Intron|GPR113_uc002rhd.1_Intron NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN G-protein coupled receptor 113 isoform 1 1048 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCAGCAACTCACCAGGGAGA 0.572 NaN 0 0 0 1 0 14 76 C2orf53 339779 broad.mit.edu 37 2 27360495 27360495 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:27360495G>T uc002rjb.2 - 3 1283 c.703C>A c.(703-705)CAC>AAC p.H235N PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank NM_178553 NP_848648 Q53SZ7 CB053_HUMAN hypothetical protein LOC339779 235 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCCACAGGTGCTGCAAAAGC 0.687 NaN 1 0 1.61879e-10 1 1.73479e-10 12 48 GTF3C2 2976 broad.mit.edu 37 2 27559164 27559164 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:27559164G>C uc002rjv.1 - 9 1619 c.1256C>G c.(1255-1257)TCC>TGC p.S419C GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.S430C|GTF3C2_uc002rjw.1_Missense_Mutation_p.S419C|GTF3C2_uc010eyz.1_Missense_Mutation_p.S419C|uc002rjy.1_RNA NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 419 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCAGGGCTGGAGAAAAGAGC 0.617 NaN 0 0 0 1 0 33 133 ZNF513 130557 broad.mit.edu 37 2 27603017 27603017 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:27603017C>G uc002rkk.2 - 2 354 c.154G>C c.(154-156)GAG>CAG p.E52Q ZNF513_uc002rkj.2_5'UTR NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 52 Poly-Glu. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTTCCTCCTCTTCCTCTTCC 0.562 NaN 0 0 0 1 0 17 263 C2orf16 84226 broad.mit.edu 37 2 27804354 27804354 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:27804354C>T uc002rkz.3 + 1 4966 c.4915C>T c.(4915-4917)CGC>TGC p.R1639C ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1639 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) GAGGAGCCATCGCGGTCCCTC 0.577 NaN 0 0 0 1 0 50 297 SLC4A1AP 22950 broad.mit.edu 37 2 27886635 27886635 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:27886635C>A uc002rlk.3 + 1 298 c.16C>A c.(16-18)CGC>AGC p.R6S SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 6 cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) AGCACCACTTCGCAACGCTCC 0.517 NaN 1 0 2.2871e-25 1 2.57583e-25 37 164 BRE 9577 broad.mit.edu 37 2 28248194 28248194 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:28248194G>A uc002rlr.2 + 6 720 c.402G>A c.(400-402)GAG>GAA p.E134E BRE_uc002rlp.1_Silent_p.E134E|BRE_uc002rlq.2_Silent_p.E134E|BRE_uc002rls.2_Silent_p.E134E|BRE_uc002rlt.2_Silent_p.E134E|BRE_uc002rlu.2_Silent_p.E134E|BRE_uc002rlv.2_5'UTR NM_199194 NP_954664 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A 134 UEV-like 1. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding lung(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) GCCTCCGGGAGAGCTCCCGCC 0.453 NaN 0 0 0 1 0 90 42 PLB1 151056 broad.mit.edu 37 2 28761192 28761192 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:28761192C>G uc002rmb.1 + 10 562 c.562C>G c.(562-564)CTT>GTT p.L188V PLB1_uc010ezj.1_Missense_Mutation_p.L199V NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 188 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) ACAGAATGGGCTTGCGGCGGG 0.662 NaN 0 0 0 1 0 5 35 RASGRP3 25780 broad.mit.edu 37 2 33768679 33768679 + Missense_Mutation SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:33768679T>A uc002rox.2 + 14 2006 c.1379T>A c.(1378-1380)GTT>GAT p.V460D RASGRP3_uc010ync.1_Missense_Mutation_p.V460D|RASGRP3_uc002roy.2_Missense_Mutation_p.V459D NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 460 EF-hand 2. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) TCCTTCTGTGTTCTGGACAAA 0.338 NaN 0 0 0 1 0 5 19 CRIM1 51232 broad.mit.edu 37 2 36583615 36583615 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:36583615C>T uc002rpd.2 + 1 219 c.180C>T c.(178-180)TGC>TGT p.C60C NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 60 IGFBP N-terminal.|Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) AGGGCGTCTGCGGCTGCTGCT 0.697 NaN 0 0 0 1 0 5 44 C2orf56 55471 broad.mit.edu 37 2 37473327 37473327 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:37473327G>C uc002rqa.3 + 8 1000 c.925G>C c.(925-927)GAT>CAT p.D309H C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.D211H|C2orf56_uc010ynk.1_Missense_Mutation_p.D238H|C2orf56_uc010ynl.1_Missense_Mutation_p.D282H|C2orf56_uc010fah.2_RNA NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 309 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) AACAAAGACAGATACCTTCAG 0.403 NaN 0 0 0 1 0 15 92 C2orf56 55471 broad.mit.edu 37 2 37474653 37474653 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:37474653C>G uc002rqa.3 + 9 1066 c.991C>G c.(991-993)CTA>GTA p.L331V C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.L233V|C2orf56_uc010ynk.1_Missense_Mutation_p.L260V|C2orf56_uc010ynl.1_Missense_Mutation_p.L304V|C2orf56_uc010fah.2_RNA NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 331 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) AACAGCAGATCTAACAGCTGA 0.398 NaN 0 0 0 1 0 11 175 LRPPRC 10128 broad.mit.edu 37 2 44161983 44161983 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:44161983C>T uc002rtr.2 - 24 2597 c.2539G>A c.(2539-2541)GAC>AAC p.D847N LRPPRC_uc010yob.1_Missense_Mutation_p.D747N NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 847 PPR 13. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCATAGCAGTCAATGGCGACC 0.363 NaN 0 0 0 1 0 10 77 EPAS1 2034 broad.mit.edu 37 2 46583940 46583940 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:46583940C>G uc002ruv.2 + 4 935 c.447C>G c.(445-447)CTC>CTG p.L149L NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 149 PAS 1. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACCTGAGTCTCAAAAATGGTA 0.473 NaN 0 0 0 1 0 27 46 SPTBN1 6711 broad.mit.edu 37 2 54883057 54883057 + Nonsense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:54883057G>T uc002rxu.2 + 29 6217 c.5968G>T c.(5968-5970)GAA>TAA p.E1990* SPTBN1_uc002rxx.2_Nonsense_Mutation_p.E1977*|SPTBN1_uc002rxy.2_Nonsense_Mutation_p.E135*|SPTBN1_uc010you.1_5'Flank NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1990 Spectrin 17.|Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) ACAGATCAAGGAAAAATTACT 0.393 NaN 1 0 0.00136819 1 0.00138729 13 31 CCDC88A 55704 broad.mit.edu 37 2 55559821 55559821 + Silent SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:55559821C>A uc002ryv.2 - 16 3578 c.2736G>T c.(2734-2736)GTG>GTT p.V912V CCDC88A_uc010yoz.1_Silent_p.V912V|CCDC88A_uc010ypa.1_Silent_p.V912V|CCDC88A_uc002ryu.2_Silent_p.V195V|CCDC88A_uc002ryw.2_Silent_p.V195V NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 912 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 ACTTTTCACTCACCAAATCCT 0.353 NaN 1 0 3.07112e-06 1 3.19359e-06 10 80 USP34 9736 broad.mit.edu 37 2 61433904 61433904 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:61433904G>C uc002sbe.2 - 71 9059 c.9037C>G c.(9037-9039)CAG>GAG p.Q3013E USP34_uc002sbd.2_5'Flank NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3013 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CCTTTTCTCTGAAGATAAGGG 0.378 NaN 0 0 0 1 0 9 48 C2orf86 51057 broad.mit.edu 37 2 63631244 63631244 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:63631244G>A uc002sch.2 - 10 1820 c.1374C>T c.(1372-1374)ATC>ATT p.I458I C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.I299I|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.I266I|C2orf86_uc002sci.1_Silent_p.I434I|C2orf86_uc010fcr.1_Silent_p.I348I NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 458 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 GGAGATCATAGATATCACTAC 0.393 NaN 0 0 0 1 0 113 55 UGP2 7360 broad.mit.edu 37 2 64112904 64112904 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:64112904G>C uc002scm.2 + 6 1063 c.757G>C c.(757-759)GAT>CAT p.D253H UGP2_uc002scl.2_Missense_Mutation_p.D242H|UGP2_uc010ypx.1_Missense_Mutation_p.D262H NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 253 Magnesium (By similarity). glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 GTCTAACATAGATAATCTGGG 0.388 NaN 0 0 0 1 0 31 172 ATP6V1B1 525 broad.mit.edu 37 2 71189921 71189921 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:71189921T>C uc002shj.2 + 9 887 c.800T>C c.(799-801)ATC>ACC p.I267T ATP6V1B1_uc010fdv.2_Missense_Mutation_p.I267T|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.I225T NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 267 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 GAGCGGATCATCACCCCGCGC 0.587 NaN 0 0 0 1 0 9 116 DYSF 8291 broad.mit.edu 37 2 71791217 71791217 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:71791217C>T uc002sie.2 + 24 2761 c.2385C>T c.(2383-2385)ATC>ATT p.I795I DYSF_uc010feg.2_Silent_p.I826I|DYSF_uc010feh.2_Silent_p.I781I|DYSF_uc002sig.3_Silent_p.I781I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.I795I|DYSF_uc010fef.2_Silent_p.I812I|DYSF_uc010fei.2_Silent_p.I812I|DYSF_uc010fek.2_Silent_p.I813I|DYSF_uc010fej.2_Silent_p.I782I|DYSF_uc010fel.2_Silent_p.I782I|DYSF_uc010feo.2_Silent_p.I827I|DYSF_uc010fem.2_Silent_p.I796I|DYSF_uc010fen.2_Silent_p.I813I|DYSF_uc002sif.2_Silent_p.I796I NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 795 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 ACATCGTCATCTGGATGCTGC 0.642 NaN 0 0 0 1 0 28 118 ALMS1 7840 broad.mit.edu 37 2 73675948 73675948 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:73675948C>T uc002sje.1 + 10 2408 c.2297C>T c.(2296-2298)TCA>TTA p.S766L ALMS1_uc002sjf.1_Missense_Mutation_p.S722L|ALMS1_uc002sjg.2_Missense_Mutation_p.S152L|ALMS1_uc002sjh.1_Missense_Mutation_p.S152L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 764 5.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AGTTCTTACTCACAAAGAGAA 0.458 NaN 0 0 0 1 0 134 215 ALMS1 7840 broad.mit.edu 37 2 73676289 73676289 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:73676289C>T uc002sje.1 + 10 2749 c.2638C>T c.(2638-2640)CAT>TAT p.H880Y ALMS1_uc002sjf.1_Missense_Mutation_p.H836Y|ALMS1_uc002sjg.2_Missense_Mutation_p.H266Y|ALMS1_uc002sjh.1_Missense_Mutation_p.H266Y NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 878 8.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ACCCAATAGTCATCTAACTGA 0.478 NaN 0 0 0 1 0 54 98 ALMS1 7840 broad.mit.edu 37 2 73677373 73677373 + Nonsense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:73677373C>G uc002sje.1 + 10 3833 c.3722C>G c.(3721-3723)TCA>TGA p.S1241* ALMS1_uc002sjf.1_Nonsense_Mutation_p.S1197*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.S627*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.S627* NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1239 15.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GCTTCTTACTCACACACAGAG 0.473 NaN 0 0 0 1 0 70 129 ALMS1 7840 broad.mit.edu 37 2 73677410 73677410 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:73677410C>T uc002sje.1 + 10 3870 c.3759C>T c.(3757-3759)GTC>GTT p.V1253V ALMS1_uc002sjf.1_Silent_p.V1209V|ALMS1_uc002sjg.2_Silent_p.V639V|ALMS1_uc002sjh.1_Silent_p.V639V NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1251 16.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ACCAACAGGTCTTGCCAGATA 0.483 NaN 0 0 0 1 0 72 114 ALMS1 7840 broad.mit.edu 37 2 73677968 73677968 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:73677968C>G uc002sje.1 + 10 4428 c.4317C>G c.(4315-4317)TTC>TTG p.F1439L ALMS1_uc002sjf.1_Missense_Mutation_p.F1395L|ALMS1_uc002sjg.2_Missense_Mutation_p.F825L|ALMS1_uc002sjh.1_Missense_Mutation_p.F825L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1437 19.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CTGGTAGTTTCTACCAACAGG 0.488 NaN 0 0 0 1 0 107 180 ALMS1 7840 broad.mit.edu 37 2 73678719 73678719 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:73678719C>G uc002sje.1 + 10 5179 c.5068C>G c.(5068-5070)CTG>GTG p.L1690V ALMS1_uc002sjf.1_Missense_Mutation_p.L1646V|ALMS1_uc002sjg.2_Missense_Mutation_p.L1076V|ALMS1_uc002sjh.1_Missense_Mutation_p.L1076V NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1688 25.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TGAAGAAGCTCTGAAAGTTCC 0.438 NaN 0 0 0 1 0 60 110 ALMS1 7840 broad.mit.edu 37 2 73678860 73678860 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:73678860C>G uc002sje.1 + 10 5320 c.5209C>G c.(5209-5211)CTG>GTG p.L1737V ALMS1_uc002sjf.1_Missense_Mutation_p.L1693V|ALMS1_uc002sjg.2_Missense_Mutation_p.L1123V|ALMS1_uc002sjh.1_Missense_Mutation_p.L1123V NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1735 34 X 47 AA approximate tandem repeat.|26. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TCAAGAAGCTCTGAAAGTTTC 0.423 NaN 0 0 0 1 0 75 120 LOXL3 84695 broad.mit.edu 37 2 74761668 74761668 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:74761668C>G uc002smp.1 - 10 1885 c.1813G>C c.(1813-1815)GAG>CAG p.E605Q LOXL3_uc002smo.1_Missense_Mutation_p.E244Q|LOXL3_uc010ffm.1_Missense_Mutation_p.E549Q|LOXL3_uc002smq.1_Missense_Mutation_p.E460Q|LOXL3_uc010ffn.1_Missense_Mutation_p.E460Q NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 605 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 CCATGGCACTCGTGCCACACC 0.607 NaN 0 0 0 1 0 18 13 C2orf65 130951 broad.mit.edu 37 2 74787419 74787419 + Splice_Site SNP C C G rs77403431 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:74787419C>G uc002smy.2 - 9 1399 c.1282_splice c.e9-1 p.S428_splice C2orf65_uc010ysa.1_Splice_Site_p.S428_splice|C2orf65_uc010ffp.2_Splice_Site_p.S77_splice|C2orf65_uc002smx.2_Splice_Site_p.S184_splice NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 CCAGCATGCTCTGAGGAAAAG 0.547 NaN 0 0 0 1 0 8 52 LRRTM1 347730 broad.mit.edu 37 2 80529574 80529574 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:80529574G>T uc002sok.1 - 2 1641 c.1371C>A c.(1369-1371)CTC>CTA p.L457L CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 457 Cytoplasmic (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 TGAGCTGCCTGAGGCTGGCTG 0.557 NaN HNSCC(69;0.2) 1 0 4.36969e-10 1 4.67295e-10 12 80 POLR1A 25885 broad.mit.edu 37 2 86315961 86315961 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:86315961G>T uc002sqs.2 - 5 952 c.573C>A c.(571-573)CTC>CTA p.L191L POLR1A_uc002sqv.2_Silent_p.L191L NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 191 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AGAGAGCAATGAGCTTGCTCT 0.448 NaN 1 0 2.35188e-11 1 2.53913e-11 19 91 KDM3A 55818 broad.mit.edu 37 2 86718100 86718100 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:86718100C>G uc002sri.3 + 24 3997 c.3670C>G c.(3670-3672)CAA>GAA p.Q1224E KDM3A_uc010ytj.1_Missense_Mutation_p.Q1224E|KDM3A_uc010ytk.1_Missense_Mutation_p.Q1172E NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 1224 JmjC. androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 ACGTCTTCATCAAGAGTATGG 0.438 NaN 0 0 0 1 0 62 43 RNF103 7844 broad.mit.edu 37 2 86832071 86832071 + Nonsense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:86832071G>C uc002srn.2 - 4 1922 c.953C>G c.(952-954)TCA>TGA p.S318* VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Nonsense_Mutation_p.S179*|uc002sro.2_Intron NM_005667 NP_005658 O00237 RN103_HUMAN ring finger protein 103 318 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1) 1 GGGTTGTAATGAGCGCAAAAA 0.388 NaN 0 0 0 1 0 21 122 FER1L5 90342 broad.mit.edu 37 2 97369274 97369274 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:97369274G>A uc010fia.2 + 50 5814 c.5814G>A c.(5812-5814)ATG>ATA p.M1938I FER1L5_uc002sws.3_Missense_Mutation_p.M647I|FER1L5_uc002swt.3_Missense_Mutation_p.M647I|FER1L5_uc010yus.1_Missense_Mutation_p.M646I NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1938 integral to membrane ovary(1) 1 AGGTGAAGATGAGCCTGGAGA 0.572 NaN 0 0 0 1 0 4 57 CNNM4 26504 broad.mit.edu 37 2 97427901 97427901 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:97427901G>A uc002swx.2 + 1 1263 c.1165G>A c.(1165-1167)GAT>AAT p.D389N NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN cyclin M4 389 CBS 1. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|ovary(1) 3 GATCCGCAGCGATGCCATCCT 0.498 NaN 0 0 0 1 0 12 89 ANKRD36 375248 broad.mit.edu 37 2 97866080 97866080 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:97866080G>A uc010yva.1 + 45 3009 c.2765G>A c.(2764-2766)CGG>CAG p.R922Q ANKRD36_uc002sxo.2_Missense_Mutation_p.R338Q|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 922 0 GTGTCTTCTCGGAAAAAACCA 0.338 NaN 0 0 0 1 0 13 85 RANBP2 5903 broad.mit.edu 37 2 109388219 109388219 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:109388219C>T uc002tem.3 + 21 8038 c.7912C>T c.(7912-7914)CTA>TTA p.L2638L NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2638 Required for E3 SUMO-ligase activity.|1.|Interaction with UBE2I.|2 X 50 AA approximate repeats. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TGTATATGAACTAACTCCAAC 0.373 NaN 0 0 0 1 0 32 191 RABL2A 11159 broad.mit.edu 37 2 114399013 114399013 + Missense_Mutation SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:114399013A>G uc002tkn.3 + 7 704 c.490A>G c.(490-492)ACC>GCC p.T164A RABL2A_uc010flb.2_Missense_Mutation_p.T164A|RABL2A_uc002tkl.3_Missense_Mutation_p.T83A|RABL2A_uc002tkm.3_Missense_Mutation_p.T101A|RABL2A_uc002tks.3_Missense_Mutation_p.T165A|RABL2A_uc002tkr.2_Missense_Mutation_p.T165A|RABL2A_uc002tkp.3_Missense_Mutation_p.T165A NM_007082 NP_009013 Q9UBK7 RBL2A_HUMAN RAB, member of RAS oncogene family-like 2A 164 small GTPase mediated signal transduction GTP binding|GTPase activity skin(1) 1 TGCTGATGGTACCAATGTTGT 0.498 NaN 0 0 0 1 0 22 71 CNTNAP5 129684 broad.mit.edu 37 2 125405445 125405445 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:125405445G>A uc002tno.2 + 13 2348 c.1984G>A c.(1984-1986)GAA>AAA p.E662K CNTNAP5_uc010flu.2_Missense_Mutation_p.E663K NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 662 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GGGCAGCATGGAACAGCTGGA 0.627 NaN 0 0 0 1 0 4 11 ERCC3 2071 broad.mit.edu 37 2 128016992 128016992 + Silent SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:128016992T>C uc002toh.1 - 14 2192 c.2097A>G c.(2095-2097)GAA>GAG p.E699E ERCC3_uc002toe.1_Silent_p.E454E|ERCC3_uc002tof.1_Silent_p.E635E|ERCC3_uc002tog.1_Silent_p.E635E NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 699 Asp/Glu-rich (acidic).|Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) ACGCCAAGTCTTCCTCCTCCA 0.572 NaN Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 1 0 39 66 MYO7B 4648 broad.mit.edu 37 2 128367562 128367562 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:128367562C>G uc002top.2 + 24 3216 c.3163C>G c.(3163-3165)CAG>GAG p.Q1055E NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1055 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCACGGTGCCCAGGTTCCACA 0.657 NaN 0 0 0 1 0 5 11 NCKAP5 344148 broad.mit.edu 37 2 133542301 133542301 + Nonsense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:133542301C>A uc002ttp.2 - 14 2457 c.2083G>T c.(2083-2085)GAG>TAG p.E695* NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 695 protein binding 0 ATGGAAATCTCATTTCTGGTA 0.458 NaN 1 0 1.17739e-12 1 1.28065e-12 25 111 MCM6 4175 broad.mit.edu 37 2 136603845 136603845 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:136603845G>C uc002tuw.2 - 15 2247 c.2171C>G c.(2170-2172)TCT>TGT p.S724C NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 724 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) AATAAGGTTAGAGATTCGGCA 0.483 NaN 0 0 0 1 0 55 38 EPC2 26122 broad.mit.edu 37 2 149528807 149528807 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:149528807G>A uc010zbt.1 + 10 1598 c.1571G>A c.(1570-1572)CGA>CAA p.R524Q NM_015630 NP_056445 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 524 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1)|breast(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0516) AGATCATGTCGACTACAGTGT 0.368 NaN 0 0 0 1 0 72 41 NEB 4703 broad.mit.edu 37 2 152477516 152477516 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:152477516C>G uc010fnx.2 - 68 9939 c.9748G>C c.(9748-9750)GAA>CAA p.E3250Q NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3250 Nebulin 88. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTTGGCTTCTTCCATGGCC 0.438 NaN 0 0 0 1 0 11 12 CACNB4 785 broad.mit.edu 37 2 152728976 152728976 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:152728976C>G uc002tya.2 - 6 621 c.553G>C c.(553-555)GGA>CGA p.G185R CACNB4_uc002txy.2_Missense_Mutation_p.G151R|CACNB4_uc002txz.2_Missense_Mutation_p.G167R|CACNB4_uc010fnz.2_Missense_Mutation_p.G185R|CACNB4_uc002tyb.2_Missense_Mutation_p.G151R NM_000726 NP_000717 O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 185 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) ACCATTTCTCCAAGACTTGAA 0.358 NaN 0 0 0 1 0 13 102 GPD2 2820 broad.mit.edu 37 2 157407191 157407191 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:157407191G>A uc002tzf.3 + 8 1264 c.904G>A c.(904-906)GAT>AAT p.D302N GPD2_uc010zch.1_Missense_Mutation_p.D75N|GPD2_uc002tzd.3_Missense_Mutation_p.D302N|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 302 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 CAAAATGGATGATAAAGACGC 0.473 NaN 0 0 0 1 0 51 109 TANC1 85461 broad.mit.edu 37 2 160027154 160027154 + Nonsense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:160027154G>T uc002uag.2 + 10 1463 c.1189G>T c.(1189-1191)GAA>TAA p.E397* TANC1_uc010fol.1_Nonsense_Mutation_p.E291*|TANC1_uc010zcm.1_Nonsense_Mutation_p.E389*|TANC1_uc010fom.1_Nonsense_Mutation_p.E203* NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 397 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CCAGATAGAAGAAAACTTGAG 0.468 NaN 1 0 7.21436e-19 1 8.04496e-19 21 119 PLA2R1 22925 broad.mit.edu 37 2 160801453 160801453 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:160801453G>C uc002ube.1 - 28 4315 c.4108C>G c.(4108-4110)CAA>GAA p.Q1370E PLA2R1_uc010zcp.1_Missense_Mutation_p.Q1368E NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 1370 Extracellular (Potential).|C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TTTTTTTCTTGACACGGGGAT 0.423 NaN 0 0 0 1 0 33 297 SLC4A10 57282 broad.mit.edu 37 2 162830786 162830786 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:162830786G>C uc002ubx.3 + 24 3371 c.3187G>C c.(3187-3189)GAT>CAT p.D1063H SLC4A10_uc002uby.3_Missense_Mutation_p.D1033H|SLC4A10_uc010zcs.1_Missense_Mutation_p.D1044H NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 1063 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 AGCTATGGAAGATGAGGGCAC 0.323 NaN 0 0 0 1 0 3 27 SCN7A 6332 broad.mit.edu 37 2 167313506 167313506 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:167313506C>A uc002udu.1 - 10 1291 c.1164G>T c.(1162-1164)TTG>TTT p.L388F SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 388 Helical; Name=S6 of repeat I; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TGCCTAAGAACAAACTTGCCA 0.348 NaN 1 0 0.115264 1 0.115264 3 21 LRP2 4036 broad.mit.edu 37 2 170050365 170050365 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:170050365C>T uc002ues.2 - 47 8949 c.8736G>A c.(8734-8736)AAG>AAA p.K2912K NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2912 LDL-receptor class A 21.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACCATCACACTTGAACTCAT 0.463 NaN 0 0 0 1 0 29 134 RAPGEF4 11069 broad.mit.edu 37 2 173891907 173891907 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:173891907G>T uc002uhv.3 + 25 2665 c.2478G>T c.(2476-2478)TGG>TGT p.W826C RAPGEF4_uc002uhw.3_Missense_Mutation_p.W682C NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 826 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) TTCAGTTTTGGGTCGTCACTG 0.373 NaN 1 0 1.20869e-33 1 1.36582e-33 59 7 PDE11A 50940 broad.mit.edu 37 2 178705092 178705092 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:178705092C>T uc002ulq.2 - 6 1704 c.1386G>A c.(1384-1386)GAG>GAA p.E462E PDE11A_uc002ulp.2_Silent_p.E18E|PDE11A_uc002ulr.2_Silent_p.E212E|PDE11A_uc002uls.1_Silent_p.E104E|PDE11A_uc002ult.1_Silent_p.E212E|PDE11A_uc002ulu.1_Silent_p.E104E NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 462 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) ATGATGATTTCTCCATGCTTT 0.423 NaN Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 0 0 0 1 0 69 1 PLEKHA3 65977 broad.mit.edu 37 2 179360322 179360322 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:179360322G>C uc002umn.2 + 5 948 c.550G>C c.(550-552)GAG>CAG p.E184Q NM_019091 NP_061964 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A 184 cytoplasm|membrane ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) GTTTAAACCTGAGATGTTTCA 0.428 NaN 0 0 0 1 0 22 146 TTN 7273 broad.mit.edu 37 2 179413724 179413724 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:179413724C>T uc010zfg.1 - 288 85149 c.84925G>A c.(84925-84927)GTG>ATG p.V28309M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V22004M|TTN_uc010zfi.1_Missense_Mutation_p.V21937M|TTN_uc010zfj.1_Missense_Mutation_p.V21812M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29236 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTGTTTTCACACATGCCTCT 0.423 NaN 0 0 0 1 0 49 41 TTN 7273 broad.mit.edu 37 2 179435376 179435376 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:179435376C>G uc010zfg.1 - 275 68003 c.67779G>C c.(67777-67779)AAG>AAC p.K22593N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K16288N|TTN_uc010zfi.1_Missense_Mutation_p.K16221N|TTN_uc010zfj.1_Missense_Mutation_p.K16096N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23520 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTCGGTGCTCTTTATTTCTA 0.413 NaN 0 0 0 1 0 17 80 TTN 7273 broad.mit.edu 37 2 179514605 179514605 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:179514605C>G uc010zfg.1 - 165 32756 c.32532G>C c.(32530-32532)AAG>AAC p.K10844N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11771 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGATGATCTTCTTGGGCTCTT 0.338 NaN 0 0 0 1 0 41 78 NCKAP1 10787 broad.mit.edu 37 2 183817172 183817172 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:183817172G>T uc002upc.2 - 23 2964 c.2562C>A c.(2560-2562)AGC>AGA p.S854R NCKAP1_uc002upb.2_Missense_Mutation_p.S860R NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 854 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GCCACATAAGGCTTTCACTTA 0.313 NaN 1 0 8.00594e-06 1 8.29128e-06 19 63 SF3B1 23451 broad.mit.edu 37 2 198257718 198257718 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:198257718C>G uc002uue.2 - 24 3782 c.3734G>C c.(3733-3735)AGA>ACA p.R1245T NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 1245 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTGCAACATTCTACATGGTCC 0.294 NaN 0 0 0 1 0 5 32 KCTD18 130535 broad.mit.edu 37 2 201369515 201369515 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:201369515C>T uc002uvs.2 - 3 845 c.328G>A c.(328-330)GAA>AAA p.E110K KCTD18_uc002uvt.2_Missense_Mutation_p.E110K|KCTD18_uc002uvu.1_Missense_Mutation_p.E110K NM_152387 NP_689600 Q6PI47 KCD18_HUMAN potassium channel tetramerization domain 110 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 GTCTCCATTTCATTGGCCAAA 0.373 NaN 0 0 0 1 0 7 30 TRAK2 66008 broad.mit.edu 37 2 202251049 202251049 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:202251049T>C uc002uyb.3 - 14 2301 c.1855A>G c.(1855-1857)ACT>GCT p.T619A NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 619 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding 0 ACCTGAAAAGTAATACCCTCC 0.463 NaN 0 0 0 1 0 9 69 NRP2 8828 broad.mit.edu 37 2 206659622 206659622 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:206659622T>C uc002vaw.2 + 17 3427 c.2636T>C c.(2635-2637)CTG>CCG p.L879P NRP2_uc002vax.2_Missense_Mutation_p.L874P|NRP2_uc002vay.2_Missense_Mutation_p.L857P NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 879 Helical; (Potential). angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 GGCGTCCTCCTGGGGGCCACC 0.612 NaN 0 0 0 1 0 25 27 MDH1B 130752 broad.mit.edu 37 2 207621668 207621668 + Nonsense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:207621668C>A uc002vbs.2 - 4 422 c.367G>T c.(367-369)GAA>TAA p.E123* MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Nonsense_Mutation_p.E123*|MDH1B_uc010fuj.2_Nonsense_Mutation_p.E25*|MDH1B_uc002vbt.2_RNA NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 123 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TTCAGGGCTTCTTCCTCCTGC 0.428 NaN 1 0 2.80697e-09 1 2.97985e-09 10 28 ERBB4 2066 broad.mit.edu 37 2 212248420 212248420 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:212248420C>G uc002veg.1 - 28 3945 c.3847G>C c.(3847-3849)GAA>CAA p.E1283Q ERBB4_uc002veh.1_Missense_Mutation_p.E1267Q|ERBB4_uc010zji.1_Missense_Mutation_p.E1273Q|ERBB4_uc010zjj.1_Missense_Mutation_p.E1257Q NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1283 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GAGAGGTATTCAGGATTCTCT 0.502 NaN TSP Lung(8;0.080) 0 0 0 1 0 11 31 STK36 27148 broad.mit.edu 37 2 219544719 219544719 + Nonsense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:219544719C>G uc002viu.2 + 9 1318 c.1052C>G c.(1051-1053)TCA>TGA p.S351* STK36_uc002viv.2_Nonsense_Mutation_p.S351* NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 351 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CCTCAGGAATCAAGCCTCCTG 0.587 NaN 0 0 0 1 0 21 34 CCDC108 255101 broad.mit.edu 37 2 219870931 219870931 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:219870931G>C uc002vjl.1 - 31 4818 c.4734C>G c.(4732-4734)ATC>ATG p.I1578M NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1578 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGGTTCTTGATGGGAGGCA 0.607 NaN 0 0 0 1 0 38 8 SLC16A14 151473 broad.mit.edu 37 2 230911034 230911034 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:230911034G>C uc002vqd.1 - 4 1171 c.808C>G c.(808-810)CAG>GAG p.Q270E FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.Q270E|SLC16A14_uc002vqf.2_Missense_Mutation_p.Q270E NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 270 Extracellular (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TGCCCGGCCTGATCGGGGCAC 0.587 NaN 0 0 0 1 0 54 9 INPP5D 3635 broad.mit.edu 37 2 234072504 234072504 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:234072504C>T uc010zmo.1 + 11 1545 c.1392C>T c.(1390-1392)ATC>ATT p.I464I INPP5D_uc010zmp.1_Silent_p.I463I NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 464 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) GGCTGGAGATCCTCAAACACT 0.552 NaN 0 0 0 1 0 31 6 HJURP 55355 broad.mit.edu 37 2 234749322 234749322 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:234749322C>G uc002vvg.2 - 8 2170 c.2104G>C c.(2104-2106)GAT>CAT p.D702H HJURP_uc010znd.1_Missense_Mutation_p.D641H|HJURP_uc010zne.1_Missense_Mutation_p.D610H NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 702 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TCCACCCCATCTGAGGCACCC 0.577 NaN 0 0 0 1 0 28 36 SNED1 25992 broad.mit.edu 37 2 242004846 242004846 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr2:242004846G>A uc002wah.1 + 21 2845 c.2845G>A c.(2845-2847)GAC>AAC p.D949N SNED1_uc002wai.1_Missense_Mutation_p.D184N|SNED1_uc002waj.1_Missense_Mutation_p.D36N|SNED1_uc002wak.2_Missense_Mutation_p.D36N NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN 6720455I24Rik homolog precursor 949 Fibronectin type-III 1. cell-matrix adhesion extracellular region calcium ion binding breast(1)|central_nervous_system(1) 2 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CGTCTCCTCCGACGGCTCCTA 0.647 NaN 0 0 0 1 0 11 20 C20orf186 149954 broad.mit.edu 37 20 31685467 31685467 + Silent SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:31685467C>A uc010zue.1 + 11 1458 c.1443C>A c.(1441-1443)ATC>ATA p.I481I NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 481 cytoplasm|extracellular region lipid binding 0 TCATCAGGATCCAGGTGCTGA 0.597 NaN 1 0 1.39806e-14 1 1.53379e-14 29 256 C20orf144 128864 broad.mit.edu 37 20 32251484 32251484 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:32251484G>T uc002wzs.1 + 2 305 c.273G>T c.(271-273)CCG>CCT p.P91P NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank NM_080825 NP_543015 Q9BQM9 CT144_HUMAN hypothetical protein LOC128864 91 0 AGCGCGAGCCGAGGATGCCGG 0.741 NaN 1 0 0.000157383 1 0.000160863 8 4 C20orf144 128864 broad.mit.edu 37 20 32251518 32251518 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:32251518G>C uc002wzs.1 + 2 339 c.307G>C c.(307-309)GAG>CAG p.E103Q NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank NM_080825 NP_543015 Q9BQM9 CT144_HUMAN hypothetical protein LOC128864 103 0 GCGGCGGCAAGAGGCGCGGCG 0.766 NaN 0 0 0 1 0 2 3 RALY 22913 broad.mit.edu 37 20 32661429 32661429 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:32661429C>G uc002xab.2 + 4 615 c.317C>G c.(316-318)TCT>TGT p.S106C RALY_uc010zui.1_Missense_Mutation_p.S106C|RALY_uc002xac.2_Missense_Mutation_p.S106C|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.S106C NM_016732 NP_057951 Q9UKM9 RALY_HUMAN RNA binding protein (autoantigenic, 106 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding ovary(1) 1 AGAGCAGCATCTGCCATATAC 0.517 NaN 0 0 0 1 0 13 66 MYH7B 57644 broad.mit.edu 37 20 33588881 33588881 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:33588881G>A uc002xbi.1 + 39 5613 c.5521G>A c.(5521-5523)GAG>AAG p.E1841K NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1799 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GACGGTGCGCGAGCTCCAGGC 0.637 NaN 0 0 0 1 0 10 53 CEP250 11190 broad.mit.edu 37 20 34086527 34086527 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:34086527G>T uc002xcm.2 + 28 4430 c.3759G>T c.(3757-3759)TGG>TGT p.W1253C CEP250_uc010zve.1_Missense_Mutation_p.W621C NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 1253 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AAGACCTGTGGAAGACTCAAC 0.532 NaN 1 0 2.22156e-40 1 2.51595e-40 82 22 C20orf4 25980 broad.mit.edu 37 20 34828499 34828499 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:34828499G>C uc002xfc.1 + 2 802 c.709G>C c.(709-711)GAG>CAG p.E237Q C20orf4_uc002xfd.1_Missense_Mutation_p.E237Q|C20orf4_uc002xfe.1_Missense_Mutation_p.E237Q NM_015511 NP_056326 Q9Y312 CT004_HUMAN hypothetical protein LOC25980 237 0 Breast(12;0.0162) Myeloproliferative disorder(115;0.0393) CTATGCCCTGGAGACTGTGCT 0.577 NaN 0 0 0 1 0 12 46 TGIF2 60436 broad.mit.edu 37 20 35207317 35207317 + Nonsense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:35207317C>A uc002xfn.2 + 2 313 c.140C>A c.(139-141)TCA>TAA p.S47* C20orf24_uc002xfo.2_Nonsense_Mutation_p.S47* NM_021809 NP_068581 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 47 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1)|skin(1) 2 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GCCTACCCCTCAGAGCAGGAG 0.517 NaN 1 0 0.000151284 1 0.000155097 12 83 CTNNBL1 56259 broad.mit.edu 37 20 36431427 36431427 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:36431427G>A uc010zvw.1 + 12 1281 c.1190G>A c.(1189-1191)GGA>GAA p.G397E CTNNBL1_uc002xhh.2_Missense_Mutation_p.G210E|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.G145E NM_030877 NP_110517 Q8WYA6 CTBL1_HUMAN beta catenin-like 1 397 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding ovary(2) 2 Myeloproliferative disorder(115;0.00878) AAGAAAGTGGGAACCACTGAG 0.428 NaN 0 0 0 1 0 10 26 RALGAPB 57148 broad.mit.edu 37 20 37191299 37191299 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:37191299G>T uc002xiw.2 + 24 3913 c.3656G>T c.(3655-3657)TGG>TTG p.W1219L RALGAPB_uc002xix.2_Missense_Mutation_p.W1215L|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.W997L NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 1219 Rap-GAP. activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TCTACCAGTTGGTCTATTAAT 0.403 NaN 1 0 2.59497e-14 1 2.84078e-14 42 43 SLC32A1 140679 broad.mit.edu 37 20 37353648 37353648 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:37353648C>T uc002xjc.2 + 1 544 c.281C>T c.(280-282)CCG>CTG p.P94L NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 94 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) GCTCCTCTGCCGCCCTCCGGC 0.662 NaN 0 0 0 1 0 13 45 GTSF1L 149699 broad.mit.edu 37 20 42355269 42355269 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:42355269G>A uc002xld.2 - 1 374 c.66C>T c.(64-66)TTC>TTT p.F22F GTSF1L_uc002xlc.2_Silent_p.F22F NM_176791 NP_789761 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like isoform 1 22 CHHC-type. metal ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGTGGTACTGGAATCTGCTGA 0.493 NaN 0 0 0 1 0 36 87 KCNS1 3787 broad.mit.edu 37 20 43723710 43723710 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:43723710G>A uc002xnc.2 - 5 1779 c.1382C>T c.(1381-1383)TCC>TTC p.S461F KCNS1_uc002xnd.2_Missense_Mutation_p.S461F NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 461 Cytoplasmic (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) GTAGAAGTGGGAGAACTTGTT 0.597 NaN 0 0 0 1 0 10 131 MATN4 8785 broad.mit.edu 37 20 43933045 43933045 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:43933045C>T uc002xnn.2 - 3 653 c.466G>A c.(466-468)GAG>AAG p.E156K MATN4_uc002xno.2_Missense_Mutation_p.E156K|MATN4_uc002xnp.2_Missense_Mutation_p.E156K|MATN4_uc010zwr.1_Missense_Mutation_p.E104K|MATN4_uc002xnr.1_Missense_Mutation_p.E156K|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 156 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) GCCGCCACCTCGGCCACGCGG 0.746 NaN 0 0 0 1 0 4 20 CEBPB 1051 broad.mit.edu 37 20 48807986 48807986 + Missense_Mutation SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:48807986A>G uc002xvi.1 + 1 611 c.416A>G c.(415-417)TAC>TGC p.Y139C CEBPB_uc002xvh.2_RNA NM_005194 NP_005185 P17676 CEBPB_HUMAN CCAAT/enhancer binding protein beta 139 acute-phase response|immune response sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19) GAGTACGGCTACGTGAGCCTG 0.577 NaN 0 0 0 1 0 2 0 LSM14B 149986 broad.mit.edu 37 20 60708371 60708371 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:60708371G>C uc010gjy.1 + 8 1218 c.1012G>C c.(1012-1014)GAG>CAG p.E338Q LSM14B_uc002ybv.2_Missense_Mutation_p.E312Q|LSM14B_uc010zzz.1_Missense_Mutation_p.E258Q NM_144703 NP_653304 Q9BX40 LS14B_HUMAN LSM14 homolog B 338 TFG box. multicellular organismal development|regulation of translation ribonucleoprotein complex 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) GTGGGCCGAAGAGAGGAAGCT 0.612 NaN 0 0 0 1 0 34 44 ZBTB46 140685 broad.mit.edu 37 20 62421402 62421402 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:62421402G>A uc002ygv.1 - 2 910 c.709C>T c.(709-711)CAG>TAG p.Q237* ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CCTCCGTACTGAGACGGTGAA 0.597 NaN 0 0 0 1 0 4 50 PRPF6 24148 broad.mit.edu 37 20 62654184 62654184 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:62654184G>C uc002yho.2 + 13 1890 c.1722G>C c.(1720-1722)AAG>AAC p.K574N PRPF6_uc002yhp.2_Missense_Mutation_p.K574N NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 574 HAT 4. assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) CCAGCAAGAAGAGTGTGTGGC 0.582 NaN 0 0 0 1 0 19 58 TPTE 7179 broad.mit.edu 37 21 10942732 10942732 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr21:10942732G>C uc002yip.1 - 13 1077 c.709C>G c.(709-711)CTA>GTA p.L237V TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L219V|TPTE_uc002yir.1_Missense_Mutation_p.L199V|TPTE_uc010gkv.1_Missense_Mutation_p.L99V NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 237 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTGAGGTCTAGGTCAAATCCA 0.323 NaN 0 0 0 1 0 41 289 RNF160 26046 broad.mit.edu 37 21 30307437 30307437 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr21:30307437G>T uc002ymr.2 - 27 5020 c.5007C>A c.(5005-5007)GGC>GGA p.G1669G NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1623 ligase activity|zinc ion binding 0 TAACCGTCATGCCATTAAATA 0.313 NaN 1 0 4.36969e-10 1 4.67295e-10 13 47 USP16 10600 broad.mit.edu 37 21 30419060 30419060 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr21:30419060G>C uc002ymy.2 + 14 1631 c.1429G>C c.(1429-1431)GAA>CAA p.E477Q USP16_uc002ymx.2_Missense_Mutation_p.E476Q|USP16_uc002ymw.2_Missense_Mutation_p.E477Q|USP16_uc011acm.1_Missense_Mutation_p.E462Q|USP16_uc011acn.1_Missense_Mutation_p.E143Q|USP16_uc011aco.1_Missense_Mutation_p.E167Q NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN ubiquitin specific protease 16 isoform a 477 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(2)|breast(1)|pancreas(1) 4 TGACCATCCTGAAGACAGTGA 0.318 NaN 0 0 0 1 0 9 51 C21orf63 59271 broad.mit.edu 37 21 33876247 33876247 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr21:33876247G>C uc002ypr.1 + 7 1281 c.871G>C c.(871-873)GAC>CAC p.D291H C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.D288H|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.D196H|C21orf63_uc011adq.1_5'UTR NM_058187 NP_478067 P58658 CU063_HUMAN hypothetical protein LOC59271 precursor 291 Extracellular (Potential). integral to membrane sugar binding ovary(2)|pancreas(1) 3 TATAAACTTCGACCCAAGCGG 0.443 NaN 0 0 0 1 0 37 112 ITSN1 6453 broad.mit.edu 37 21 35147080 35147080 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr21:35147080G>T uc002yta.1 + 13 1621 c.1353G>T c.(1351-1353)CGG>CGT p.R451R DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.R451R|ITSN1_uc010gmg.2_Silent_p.R414R|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.R451R|ITSN1_uc010gmi.2_Silent_p.R414R|ITSN1_uc010gmj.2_Silent_p.R335R|ITSN1_uc002ysy.2_Silent_p.R451R|ITSN1_uc002ysx.2_Silent_p.R414R|ITSN1_uc002ytb.1_Silent_p.R451R|ITSN1_uc002ytc.1_Silent_p.R451R|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.R414R|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.R451R|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.R385R NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 451 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 AGTGGGAACGGAATCGAAGGC 0.368 NaN 1 0 1.5739e-10 1 1.68845e-10 17 43 RIPK4 54101 broad.mit.edu 37 21 43187192 43187192 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr21:43187192C>G uc002yzn.1 - 1 58 c.10G>C c.(10-12)GAC>CAC p.D4H NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 4 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 GTCCCGCCGTCGCCCTCCATC 0.736 NaN 0 0 0 1 0 3 6 UBASH3A 53347 broad.mit.edu 37 21 43833142 43833142 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr21:43833142C>G uc002zbe.2 + 4 400 c.364C>G c.(364-366)CAG>GAG p.Q122E UBASH3A_uc002zbf.2_Missense_Mutation_p.Q122E|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.Q122E NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 122 cytosol|nucleus ovary(3) 3 GTGTGAAGACCAGAAGGTGGA 0.512 NaN 0 0 0 1 0 33 141 RRP1 8568 broad.mit.edu 37 21 45222172 45222172 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr21:45222172G>C uc002zds.2 + 12 1120 c.1027G>C c.(1027-1029)GAG>CAG p.E343Q RRP1_uc011aez.1_Missense_Mutation_p.E343Q|RRP1_uc010gpk.1_Missense_Mutation_p.E193Q|RRP1_uc010gpl.1_Missense_Mutation_p.E241Q|RRP1_uc010gpm.1_Missense_Mutation_p.E210Q NM_003683 NP_003674 P56182 RRP1_HUMAN ribosomal RNA processing 1 homolog 343 rRNA processing nucleolus|preribosome, small subunit precursor 0 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) CCCTGAAGATGAGATCCCAGA 0.602 NaN 0 0 0 1 0 23 27 TRAPPC10 7109 broad.mit.edu 37 21 45475622 45475622 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr21:45475622C>G uc002zea.2 + 5 695 c.526C>G c.(526-528)CAG>GAG p.Q176E TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.Q176E NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 176 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 TTCTCGAACTCAGGAATCCTG 0.478 NaN 0 0 0 1 0 91 101 GAB4 128954 broad.mit.edu 37 22 17468986 17468986 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr22:17468986G>A uc002zlw.2 - 3 658 c.550C>T c.(550-552)CAG>TAG p.Q184* GAB4_uc010gqs.1_Nonsense_Mutation_p.Q167* NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 184 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) GGGAGGTGCTGATGGGAGCAG 0.612 NaN 0 0 0 1 0 21 19 PRODH 5625 broad.mit.edu 37 22 18918658 18918658 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr22:18918658C>A uc010grl.2 - 2 341 c.327G>T c.(325-327)ATG>ATT p.M109I PRODH_uc002zoj.3_5'UTR|PRODH_uc002zol.3_5'UTR|PRODH_uc002zok.3_Missense_Mutation_p.M109I NM_016335 NP_057419 O43272 PROD_HUMAN proline dehydrogenase 1 109 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1) 1 L-Proline(DB00172) AGGTCATCTTCATGAGCTTGT 0.557 NaN 1 0 5.3912e-06 1 5.58905e-06 17 37 CCDC157 550631 broad.mit.edu 37 22 30766456 30766456 + Missense_Mutation SNP G G C rs5753102 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr22:30766456G>C uc011aku.1 + 5 1222 c.562G>C c.(562-564)GAG>CAG p.E188Q CCDC157_uc011akv.1_Missense_Mutation_p.E188Q NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 188 central_nervous_system(1) 1 CCAAGAGCCAGAGAGCATCCC 0.602 NaN 0 0 0 1 0 35 33 INPP5J 27124 broad.mit.edu 37 22 31522449 31522449 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr22:31522449C>A uc003aju.3 + 3 1451 c.1359C>A c.(1357-1359)AGC>AGA p.S453R INPP5J_uc010gwf.2_Missense_Mutation_p.S453R|INPP5J_uc003ajv.3_Missense_Mutation_p.S86R|INPP5J_uc003ajs.3_Missense_Mutation_p.S86R|INPP5J_uc011alk.1_Missense_Mutation_p.S386R|INPP5J_uc010gwg.2_Missense_Mutation_p.S18R|INPP5J_uc003ajw.2_5'UTR|INPP5J_uc003ajt.3_Missense_Mutation_p.S85R|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 453 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 GTGACGACAGCGACGGCGCAG 0.672 NaN 1 0 1.7881e-09 1 1.90818e-09 30 60 PISD 23761 broad.mit.edu 37 22 32016599 32016599 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr22:32016599G>T uc003alm.3 - 7 952 c.945C>A c.(943-945)TTC>TTA p.F315L PISD_uc003alk.2_Missense_Mutation_p.F281L|PISD_uc003all.2_Intron|PISD_uc011alr.1_Missense_Mutation_p.F280L|PISD_uc003aln.3_Intron NM_014338 NP_055153 Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 315 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(2)|ovary(1) 3 Phosphatidylserine(DB00144) TCAGTGAGAAGAAGCCATGTT 0.587 NaN 1 0 3.03607e-14 1 3.32009e-14 13 24 EFCAB6 64800 broad.mit.edu 37 22 43985982 43985982 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr22:43985982C>T uc003bdy.1 - 24 3219 c.3004G>A c.(3004-3006)GAA>AAA p.E1002K EFCAB6_uc003bdz.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzi.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E228K NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1002 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) AGCTCCCCTTCGGTAAGAGAA 0.408 NaN 0 0 0 1 0 31 43 LRRN1 57633 broad.mit.edu 37 3 3887605 3887605 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:3887605C>G uc003bpt.3 + 2 2041 c.1280C>G c.(1279-1281)TCT>TGT p.S427C SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 427 Ig-like C2-type.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CCAATGATATCTCACGACAGC 0.502 NaN 0 0 0 1 0 53 66 SUMF1 285362 broad.mit.edu 37 3 4508701 4508701 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:4508701G>C uc003bpz.1 - 1 254 c.229C>G c.(229-231)CCG>GCG p.P77A SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.P77A|SUMF1_uc010hby.1_Missense_Mutation_p.P77A|SUMF1_uc011ast.1_Missense_Mutation_p.P77A NM_182760 NP_877437 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 isoform 1 77 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity upper_aerodigestive_tract(1) 1 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) ACGGGGCCCGGAGCGTTAGCC 0.706 NaN 0 0 0 1 0 3 9 ITPR1 3708 broad.mit.edu 37 3 4842241 4842241 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:4842241C>T uc003bqa.2 + 51 7268 c.6920C>T c.(6919-6921)TCA>TTA p.S2307L ITPR1_uc010hca.1_Missense_Mutation_p.S2292L|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.S1277L|ITPR1_uc010hcc.1_Missense_Mutation_p.S75L|ITPR1_uc011asv.1_Missense_Mutation_p.S31L NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 2355 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CTGATATTTTCAGTCGGGTTA 0.483 NaN 0 0 0 1 0 17 61 ITPR1 3708 broad.mit.edu 37 3 4856165 4856165 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:4856165G>T uc003bqa.2 + 55 7824 c.7476G>T c.(7474-7476)CTG>CTT p.L2492L ITPR1_uc010hca.1_Silent_p.L2477L|ITPR1_uc011asu.1_Silent_p.L503L|ITPR1_uc003bqc.2_Silent_p.L1462L|ITPR1_uc010hcc.1_Silent_p.L260L|ITPR1_uc011asv.1_Silent_p.L216L NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 2540 Lumenal (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGACGCTGCTGATGTGCATTG 0.537 NaN 1 0 1.30897e-18 1 1.45808e-18 31 71 EDEM1 9695 broad.mit.edu 37 3 5241290 5241290 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:5241290C>T uc003bqi.2 + 3 728 c.596C>T c.(595-597)TCA>TTA p.S199L EDEM1_uc011asz.1_Intron|EDEM1_uc003bqh.2_Missense_Mutation_p.S199L NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 199 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) ATGGGAAATTCATCCGAGTTC 0.408 NaN 0 0 0 1 0 28 28 MKRN2 23609 broad.mit.edu 37 3 12611602 12611602 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:12611602G>C uc003bxd.2 + 3 244 c.188G>C c.(187-189)GGA>GCA p.G63A MKRN2_uc003bxe.2_Missense_Mutation_p.G61A|MKRN2_uc011aus.1_Missense_Mutation_p.G20A NM_014160 NP_054879 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 63 intracellular ligase activity|nucleic acid binding|zinc ion binding 0 GCTGCAGCTGGAGGTGCTGTG 0.547 NaN 0 0 0 1 0 23 73 TRIM71 131405 broad.mit.edu 37 3 32932040 32932040 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:32932040G>A uc003cff.2 + 4 1407 c.1344G>A c.(1342-1344)CGG>CGA p.R448R NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 448 multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 AGACCGTGCGGAGCCTCCTGC 0.617 NaN 0 0 0 1 0 27 43 GLB1 2720 broad.mit.edu 37 3 33109743 33109743 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:33109743G>C uc003cfi.1 - 4 553 c.436C>G c.(436-438)CTT>GTT p.L146V GLB1_uc003cfh.1_Missense_Mutation_p.L116V|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Missense_Mutation_p.L194V NM_000404 NP_000395 P16278 BGAL_HUMAN galactosidase, beta 1 isoform a preproprotein 146 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding large_intestine(1) 1 Melanoma(143;0.104) GAGCGGAGAAGAATAGACTCT 0.383 NaN 0 0 0 1 0 13 39 CLASP2 23122 broad.mit.edu 37 3 33614798 33614798 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:33614798C>G uc003cfu.2 - 25 2857 c.2503G>C c.(2503-2505)GAT>CAT p.D835H CLASP2_uc003cfs.2_Missense_Mutation_p.D43H|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.D436H NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 844 ovary(3)|central_nervous_system(1) 4 TTGGCGTCATCATCTGAATGC 0.393 NaN 0 0 0 1 0 32 54 MLH1 4292 broad.mit.edu 37 3 37035095 37035095 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:37035095C>T uc003cgl.2 + 1 117 c.57C>T c.(55-57)ATC>ATT p.I19I MLH1_uc011aye.1_5'Flank|EPM2AIP1_uc003cgk.2_5'Flank|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Silent_p.I19I|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 19 I -> F (in HNPCC2; uncertain pathogenicity). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 TGAACCGCATCGCGGCGGGGG 0.567 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 0 0 0 1 0 15 34 GOLGA4 2803 broad.mit.edu 37 3 37368570 37368570 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:37368570G>A uc003cgv.2 + 14 5497 c.5193G>A c.(5191-5193)CAG>CAA p.Q1731Q GOLGA4_uc010hgr.1_Silent_p.Q1292Q|GOLGA4_uc003cgw.2_Silent_p.Q1753Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.Q1612Q NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 1731 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 GCTGTGTGCAGAAGACATATG 0.373 NaN 0 0 0 1 0 39 104 OXSR1 9943 broad.mit.edu 37 3 38292922 38292922 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:38292922C>G uc003chy.2 + 16 1746 c.1404C>G c.(1402-1404)CTC>CTG p.L468L OXSR1_uc010hhb.2_Silent_p.L402L NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 468 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CTCAGGAACTCATTTCTGCTG 0.468 NaN 0 0 0 1 0 48 138 TTC21A 199223 broad.mit.edu 37 3 39166841 39166841 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:39166841G>T uc003cjc.2 + 11 1411 c.1234G>T c.(1234-1236)GCC>TCC p.A412S TTC21A_uc003cje.2_Missense_Mutation_p.A412S|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.A363S NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 412 binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TTTCCTCCAAGCCCTCCTGAT 0.562 NaN OREG0015487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.75199e-13 1 1.90972e-13 29 28 CX3CR1 1524 broad.mit.edu 37 3 39307166 39307166 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:39307166C>T uc003cjl.2 - 2 927 c.835G>A c.(835-837)GAG>AAG p.E279K NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 279 Helical; Name=7; (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) GCAACCGTCTCAGTCACACTG 0.468 NaN 0 0 0 1 0 39 74 CCR8 1237 broad.mit.edu 37 3 39374656 39374656 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:39374656G>A uc010hhr.2 + 2 972 c.834G>A c.(832-834)CTG>CTA p.L278L CCR8_uc003cjm.2_Silent_p.L195L NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 278 Extracellular (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) GCCAACAGCTGACTTATGCCA 0.433 NaN 0 0 0 1 0 26 30 NKTR 4820 broad.mit.edu 37 3 42687461 42687461 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:42687461C>T uc003clo.2 + 17 4530 c.4383C>T c.(4381-4383)TAC>TAT p.Y1461Y NKTR_uc003clp.2_Silent_p.Y1209Y|NKTR_uc011azp.1_Missense_Mutation_p.T272I|NKTR_uc003cls.2_Silent_p.Y1161Y NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1461 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) GCAGCAGATACAGTTGAAAAC 0.373 NaN 0 0 0 1 0 5 17 CCDC13 152206 broad.mit.edu 37 3 42793446 42793446 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:42793446C>G uc003cly.3 - 5 669 c.585G>C c.(583-585)CAG>CAC p.Q195H CCDC13_uc003clz.2_Missense_Mutation_p.Q195H|CCDC13_uc011azq.1_Missense_Mutation_p.Q195H NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 195 Potential. ovary(1) 1 TGTCTCCCATCTGGGCCCTCG 0.592 NaN 0 0 0 1 0 6 22 CYP8B1 1582 broad.mit.edu 37 3 42916916 42916916 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:42916916C>G uc003cmh.2 - 1 718 c.393G>C c.(391-393)CTG>CTC p.L131L CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.L131L NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 131 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CATCCCCCCTCAGATGCTTGG 0.502 NaN 0 0 0 1 0 21 54 SETD2 29072 broad.mit.edu 37 3 47098400 47098400 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:47098400G>C uc003cqs.2 - 15 6927 c.6874C>G c.(6874-6876)CAA>GAA p.Q2292E SETD2_uc003cqv.2_Missense_Mutation_p.Q2359E NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 2292 Gln-rich.|Low charge region. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ATGGTTGCTTGAGACTGTGCA 0.463 NaN N|F|S|Mis clear cell renal carcinoma 0 0 0 1 0 23 20 C3orf75 54859 broad.mit.edu 37 3 47539889 47539889 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:47539889C>G uc003crk.2 - 6 678 c.559G>C c.(559-561)GAT>CAT p.D187H C3orf75_uc003crj.2_Missense_Mutation_p.D114H|C3orf75_uc011bba.1_Missense_Mutation_p.D138H|C3orf75_uc003crl.1_Missense_Mutation_p.D187H NM_001031703 NP_001026873 Q0PNE2 CC075_HUMAN transmembrane protein 103 187 0 TCCTCCGCATCTCCACTGTCG 0.562 NaN 0 0 0 1 0 28 25 CELSR3 1951 broad.mit.edu 37 3 48678958 48678958 + Splice_Site SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:48678958C>T uc003cul.2 - 33 9106 c.8825_splice c.e33-1 p.D2942_splice CELSR3_uc003cuf.1_Splice_Site_p.D3040_splice|CELSR3_uc010hkf.2_Splice_Site_p.D232_splice|CELSR3_uc010hkg.2_Splice_Site_p.D925_splice NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCATCCACATCTGTGGAGCCA 0.597 NaN 0 0 0 1 0 23 17 CELSR3 1951 broad.mit.edu 37 3 48699135 48699135 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:48699135G>C uc003cul.2 - 1 1214 c.933C>G c.(931-933)AAC>AAG p.N311K CELSR3_uc003cuf.1_Missense_Mutation_p.N381K NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 311 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGCGTGCCCGGTTCGCCGAGG 0.706 NaN 0 0 0 1 0 15 28 NCKIPSD 51517 broad.mit.edu 37 3 48716150 48716150 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:48716150G>C uc003cun.2 - 12 1906 c.1812C>G c.(1810-1812)TTC>TTG p.F604L NCKIPSD_uc003cum.2_Missense_Mutation_p.F597L NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain isoform 604 cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCTCATGTTTGAAGATGCGCA 0.587 NaN 0 0 0 1 0 16 40 USP19 10869 broad.mit.edu 37 3 49153551 49153551 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:49153551G>C uc003cwd.1 - 9 1258 c.1097C>G c.(1096-1098)TCT>TGT p.S366C USP19_uc003cwa.2_Missense_Mutation_p.S172C|USP19_uc003cvz.3_Missense_Mutation_p.S467C|USP19_uc011bcg.1_Missense_Mutation_p.S457C|USP19_uc003cwb.2_Missense_Mutation_p.S452C|USP19_uc003cwc.1_Missense_Mutation_p.S122C|USP19_uc011bch.1_Missense_Mutation_p.S467C|USP19_uc011bci.1_Missense_Mutation_p.S452C NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 366 CS 2.|Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GTCGATGCGAGAAGCCGTGAA 0.572 NaN 0 0 0 1 0 3 16 CCDC36 339834 broad.mit.edu 37 3 49293674 49293674 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:49293674G>A uc003cwk.2 + 10 1131 c.744G>A c.(742-744)CTG>CTA p.L248L CCDC36_uc011bck.1_Silent_p.L248L NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 248 ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TAGGCCAGCTGAATGTGCCCA 0.507 NaN 0 0 0 1 0 37 23 DOCK3 1795 broad.mit.edu 37 3 51418783 51418783 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:51418783C>T uc011bds.1 + 53 5909 c.5886C>T c.(5884-5886)GTC>GTT p.V1962V NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1962 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAGGGTGCGTCATCCCTCAGG 0.682 NaN 0 0 0 1 0 13 29 NEK4 6787 broad.mit.edu 37 3 52800388 52800388 + Missense_Mutation SNP A A C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:52800388A>C uc003dfq.3 - 3 553 c.364T>G c.(364-366)TTA>GTA p.L122V NEK4_uc011bej.1_Missense_Mutation_p.L33V|NEK4_uc003dfr.2_Missense_Mutation_p.L122V NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 122 Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TTTTCATGTAAATACTGAGGA 0.333 NaN 0 0 0 1 0 24 15 CCDC66 285331 broad.mit.edu 37 3 56655611 56655611 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:56655611G>A uc003dhz.2 + 18 2899 c.2812G>A c.(2812-2814)GAA>AAA p.E938K CCDC66_uc003dhy.2_Missense_Mutation_p.E574K|CCDC66_uc003dhu.2_Missense_Mutation_p.E904K|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Missense_Mutation_p.E306K|C3orf63_uc003dib.3_3'UTR|C3orf63_uc003dic.3_3'UTR|C3orf63_uc003die.3_3'UTR|C3orf63_uc003did.3_3'UTR NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 938 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) GCCTTTAGCTGAAAATCAAGA 0.358 NaN 0 0 0 1 0 26 50 FAM116A 201627 broad.mit.edu 37 3 57631450 57631450 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:57631450G>C uc003dja.2 - 11 1046 c.975C>G c.(973-975)TTC>TTG p.F325L NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 325 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) AATAAGGTCGGAAATCACTGA 0.343 NaN 0 0 0 1 0 10 29 PXK 54899 broad.mit.edu 37 3 58395832 58395832 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:58395832G>C uc003djz.1 + 16 1510 c.1411G>C c.(1411-1413)GCT>CCT p.A471P PXK_uc003djx.1_Missense_Mutation_p.A471P|PXK_uc003djy.1_Missense_Mutation_p.A454P|PXK_uc003dka.1_Missense_Mutation_p.A471P|PXK_uc003dkb.1_Missense_Mutation_p.A388P|PXK_uc003dkc.1_Missense_Mutation_p.A454P|PXK_uc011bfe.1_Missense_Mutation_p.A438P|PXK_uc010hnj.1_Missense_Mutation_p.A438P|PXK_uc003dkd.1_Missense_Mutation_p.A334P|PXK_uc010hnk.1_Missense_Mutation_p.A245P NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 471 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) AAAACGATCTGCTCTTGAAAA 0.408 NaN 0 0 0 1 0 11 15 OR5H1 26341 broad.mit.edu 37 3 97852408 97852408 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:97852408C>G uc011bgt.1 + 1 867 c.867C>G c.(865-867)ATC>ATG p.I289M NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 289 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 ATCCTATCATCTACAGTCTGA 0.343 NaN 0 0 0 1 0 20 84 OR5K1 26339 broad.mit.edu 37 3 98189098 98189098 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:98189098C>G uc003dsm.2 + 1 678 c.678C>G c.(676-678)TTC>TTG p.F226L NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 TTACTATTTTCAAAATGAAAT 0.343 NaN 0 0 0 1 0 75 58 HHLA2 11148 broad.mit.edu 37 3 108074154 108074154 + Nonsense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:108074154C>G uc003dwy.3 + 5 778 c.611C>G c.(610-612)TCA>TGA p.S204* HHLA2_uc011bhl.1_Nonsense_Mutation_p.S140*|HHLA2_uc010hpu.2_Nonsense_Mutation_p.S204*|HHLA2_uc003dwz.2_Nonsense_Mutation_p.S204* NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 204 Ig-like C1-type. integral to membrane ovary(1) 1 ATTACAGGATCAAATTCATCT 0.403 NaN 0 0 0 1 0 52 32 TRAT1 50852 broad.mit.edu 37 3 108572606 108572606 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:108572606C>G uc003dxi.1 + 6 587 c.443C>G c.(442-444)TCT>TGT p.S148C TRAT1_uc010hpx.1_Missense_Mutation_p.S111C NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 148 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 GCCAGCGTTTCTAAGACCACC 0.458 NaN 0 0 0 1 0 39 74 ATP6V1A 523 broad.mit.edu 37 3 113500007 113500007 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:113500007C>G uc003eao.2 + 3 259 c.193C>G c.(193-195)CAG>GAG p.Q65E ATP6V1A_uc011bik.1_Missense_Mutation_p.Q32E NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 65 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 GGCTACTATTCAGGTGTATGA 0.378 NaN 0 0 0 1 0 36 107 KPNA1 3836 broad.mit.edu 37 3 122160940 122160940 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:122160940G>C uc003efd.1 - 10 977 c.941C>G c.(940-942)TCT>TGT p.S314C KPNA1_uc003efb.1_Missense_Mutation_p.S113C|KPNA1_uc003efc.1_Missense_Mutation_p.S113C|KPNA1_uc011bjr.1_Missense_Mutation_p.S113C|KPNA1_uc010hrh.2_Missense_Mutation_p.S113C|KPNA1_uc003efe.2_Missense_Mutation_p.S314C NM_002264 NP_002255 P52294 IMA1_HUMAN karyopherin alpha 1 314 Binding to RAG1.|ARM 6. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.0898) CAAAGCAGGAGAAACCACTTT 0.338 NaN 0 0 0 1 0 25 150 ADCY5 111 broad.mit.edu 37 3 123166643 123166643 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:123166643C>T uc003egh.1 - 1 750 c.750G>A c.(748-750)GTG>GTA p.V250V NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 250 Helical; (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) GGCACACGAGCACCAGCACGG 0.662 NaN 0 0 0 1 0 8 30 HEG1 57493 broad.mit.edu 37 3 124748209 124748209 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:124748209G>A uc003ehs.3 - 2 508 c.440C>T c.(439-441)TCT>TTT p.S147F HEG1_uc011bke.1_Missense_Mutation_p.S147F NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 147 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 GCTCTTCCCAGAGGTCTGAAC 0.483 NaN 0 0 0 1 0 20 45 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:126707544T>G uc003ejg.2 + 1 43 c.39T>G c.(37-39)GGT>GGG p.G13G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.567 NaN 0 0 0 1 0 11 20 H1FOO 132243 broad.mit.edu 37 3 129269986 129269986 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:129269986G>C uc003emu.2 + 5 849 c.844G>C c.(844-846)GTG>CTG p.V282L H1FOO_uc003emv.2_Missense_Mutation_p.V143L NM_153833 NP_722575 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 282 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding skin(1) 1 CAAAAAGAAGGTGGTGGCCAA 0.408 NaN 0 0 0 1 0 15 53 NUDT16 131870 broad.mit.edu 37 3 131101103 131101103 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:131101103G>C uc003eof.2 + 2 294 c.253G>C c.(253-255)GAG>CAG p.E85Q uc003eoc.1_5'Flank|NUDT16_uc011bln.1_Missense_Mutation_p.E72Q|NUDT16_uc003eog.1_Missense_Mutation_p.E85Q NM_152395 NP_689608 Q96DE0 NUD16_HUMAN nudix-type motif 16 118 Nudix hydrolase. nucleolus|nucleoplasm hydrolase activity|metal ion binding|RNA binding 0 TCTGACGCTCGAGGAGCTGTT 0.657 NaN 0 0 0 1 0 13 38 PCOLCE2 26577 broad.mit.edu 37 3 142606552 142606552 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:142606552C>T uc003evd.2 - 2 347 c.151G>A c.(151-153)GGA>AGA p.G51R NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 51 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 GGGTACACTCCAGGAAAACCT 0.398 NaN 0 0 0 1 0 19 30 MLF1 4291 broad.mit.edu 37 3 158314723 158314723 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:158314723G>C uc003fcb.2 + 3 405 c.268G>C c.(268-270)GAA>CAA p.E90Q MLF1_uc003fbz.2_Missense_Mutation_p.E65Q|MLF1_uc003fca.2_Missense_Mutation_p.E65Q|MLF1_uc003fbx.2_Missense_Mutation_p.E80Q|MLF1_uc003fcc.2_Missense_Mutation_p.E121Q|MLF1_uc003fby.2_Missense_Mutation_p.E16Q|MLF1_uc010hvx.2_Missense_Mutation_p.E65Q NM_022443 NP_071888 P58340 MLF1_HUMAN myeloid leukemia factor 1 isoform 1 90 Interaction with COPS3. cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding 0 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) GCAGAAATTAGAAAGAAACTT 0.264 NaN T NPM1 AML 0 0 0 1 0 20 6 SMC4 10051 broad.mit.edu 37 3 160150149 160150149 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:160150149G>C uc003fdh.2 + 22 3489 c.3376G>C c.(3376-3378)GAT>CAT p.D1126H IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.D1101H|SMC4_uc003fdj.2_Missense_Mutation_p.D1126H|SMC4_uc010hwd.2_Missense_Mutation_p.D1068H|SMC4_uc003fdl.2_Missense_Mutation_p.D829H NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 1126 Potential. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGCATATGAAGATCTTCGGAA 0.338 NaN 0 0 0 1 0 16 65 PPM1L 151742 broad.mit.edu 37 3 160786817 160786817 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:160786817G>A uc003fdr.2 + 4 1056 c.955G>A c.(955-957)GAG>AAG p.E319K PPM1L_uc003fds.2_Missense_Mutation_p.E140K|PPM1L_uc003fdt.2_Missense_Mutation_p.E192K|PPM1L_uc010hwf.2_RNA NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN protein phosphatase 1 (formerly 2C)-like 319 Cytoplasmic (Potential).|PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1) 1 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ATTCATCAAGGAGCGCTTGGA 0.468 NaN 0 0 0 1 0 58 45 PRKCI 5584 broad.mit.edu 37 3 170020896 170020896 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:170020896C>G uc003fgs.2 + 18 2010 c.1772C>G c.(1771-1773)TCT>TGT p.S591C PRKCI_uc003fgt.2_Missense_Mutation_p.S146C NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 591 AGC-kinase C-terminal. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CTTTTGATGTCTGCAGAAGAA 0.333 NaN 0 0 0 1 0 8 40 SKIL 6498 broad.mit.edu 37 3 170108880 170108880 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:170108880G>C uc003fgu.2 + 6 2440 c.1728G>C c.(1726-1728)CAG>CAC p.Q576H SKIL_uc011bps.1_Missense_Mutation_p.Q556H|SKIL_uc003fgv.2_Missense_Mutation_p.Q530H|SKIL_uc003fgw.2_Missense_Mutation_p.Q576H NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 576 Potential. cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AAGAACAGCAGAATTTACAGA 0.313 NaN 0 0 0 1 0 31 10 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 1 0 25 84 MCF2L2 23101 broad.mit.edu 37 3 183097188 183097188 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:183097188C>G uc003fli.1 - 3 262 c.172G>C c.(172-174)GAG>CAG p.E58Q MCF2L2_uc003flj.1_Missense_Mutation_p.E58Q|MCF2L2_uc003flp.1_Missense_Mutation_p.E93Q NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 58 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GCGCCATCCTCCCCTCGGCCT 0.512 NaN 0 0 0 1 0 23 9 CHRD 8646 broad.mit.edu 37 3 184107170 184107170 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:184107170G>A uc003fov.2 + 23 3074 c.2828G>A c.(2827-2829)AGA>AAA p.R943K CHRD_uc003fow.2_Missense_Mutation_p.R573K|CHRD_uc003fox.2_Missense_Mutation_p.R942K|CHRD_uc003foy.2_Missense_Mutation_p.R573K|CHRD_uc010hyc.2_Missense_Mutation_p.R533K|CHRD_uc011brr.1_Missense_Mutation_p.R485K NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 943 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCAGAGACCAGAACTGATCCA 0.512 NaN 0 0 0 1 0 6 13 AHSG 197 broad.mit.edu 37 3 186334313 186334313 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:186334313C>G uc003fqk.3 + 3 487 c.406C>G c.(406-408)CCA>GCA p.P136A AHSG_uc003fqj.2_Missense_Mutation_p.P136A|AHSG_uc003fql.3_Missense_Mutation_p.P136A|AHSG_uc003fqm.3_Missense_Mutation_p.P135A|AHSG_uc010hyp.2_Missense_Mutation_p.P99A NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 136 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) TGATTCCAGTCCAGGTACAGA 0.413 NaN 0 0 0 1 0 4 20 CLDN16 10686 broad.mit.edu 37 3 190120206 190120206 + Silent SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:190120206T>C uc003fsi.2 + 2 473 c.405T>C c.(403-405)GAT>GAC p.D135D CLDN16_uc010hze.2_Intron NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN claudin 16 135 Extracellular (Potential). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) ATGAGTACGATTCCATACTTG 0.488 NaN 0 0 0 1 0 28 89 LSG1 55341 broad.mit.edu 37 3 194371614 194371614 + Nonsense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:194371614G>C uc003fui.2 - 10 1730 c.1415C>G c.(1414-1416)TCA>TGA p.S472* NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 472 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) GGATATTAGTGATACAGGAGG 0.418 NaN 0 0 0 1 0 25 49 PPP1R2 5504 broad.mit.edu 37 3 195251628 195251628 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:195251628G>A uc003fup.2 - 3 673 c.297C>T c.(295-297)ATC>ATT p.I99I NM_006241 NP_006232 P41236 IPP2_HUMAN protein phosphatase 1, regulatory subunit 2 99 glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity urinary_tract(1) 1 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) TCCTGGCTAAGATGTCTGGCG 0.468 NaN 0 0 0 1 0 21 33 CRMP1 1400 broad.mit.edu 37 4 5851128 5851128 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:5851128C>G uc003gip.2 - 7 713 c.612G>C c.(610-612)TTG>TTC p.L204F CRMP1_uc003gin.1_Missense_Mutation_p.L116F|CRMP1_uc003giq.2_Missense_Mutation_p.L204F|CRMP1_uc003gir.2_Missense_Mutation_p.L199F|CRMP1_uc003gis.2_Missense_Mutation_p.L318F NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 204 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) CCTGAGCTATCAAATCTCCAT 0.458 NaN 0 0 0 1 0 15 59 BOD1L 259282 broad.mit.edu 37 4 13604756 13604756 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:13604756C>G uc003gmz.1 - 10 3885 c.3768G>C c.(3766-3768)TTG>TTC p.L1256F BOD1L_uc010idr.1_Missense_Mutation_p.L593F NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1256 DNA binding ovary(5)|breast(1) 6 CTGTGTTTTTCAAATTCTTCT 0.393 NaN 0 0 0 1 0 6 58 SEL1L3 23231 broad.mit.edu 37 4 25760599 25760599 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:25760599G>C uc003gru.3 - 21 3199 c.3047C>G c.(3046-3048)TCT>TGT p.S1016C SEL1L3_uc003grt.2_Missense_Mutation_p.S64C|SEL1L3_uc003grv.2_Missense_Mutation_p.S423C NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 1016 integral to membrane binding 0 GATGTTATTAGAATGGAGAGT 0.428 NaN 0 0 0 1 0 41 48 RBPJ 3516 broad.mit.edu 37 4 26417162 26417162 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:26417162T>C uc003grx.1 + 5 496 c.260T>C c.(259-261)ATG>ACG p.M87T RBPJ_uc003gry.1_Missense_Mutation_p.M72T|RBPJ_uc003grz.1_Missense_Mutation_p.M87T|RBPJ_uc011bxt.1_Missense_Mutation_p.M87T|RBPJ_uc003gsa.1_Missense_Mutation_p.M73T|RBPJ_uc003gsb.1_Missense_Mutation_p.M74T|RBPJ_uc003gsc.1_Missense_Mutation_p.M73T NM_005349 NP_005340 Q06330 SUH_HUMAN recombining binding protein suppressor of 87 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Breast(46;0.0503) AAAGAACAAATGGAACGCGAT 0.388 NaN 0 0 0 1 0 37 94 PCDH7 5099 broad.mit.edu 37 4 30723251 30723251 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:30723251G>T uc003gsk.1 + 1 1215 c.207G>T c.(205-207)GAG>GAT p.E69D PCDH7_uc011bxw.1_Missense_Mutation_p.E69D|PCDH7_uc011bxx.1_Missense_Mutation_p.E69D NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 69 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 TCAGCCTGGAGTCCGGTTCCG 0.647 NaN 1 0 3.59834e-05 1 3.70396e-05 6 34 PCDH7 5099 broad.mit.edu 37 4 30724469 30724469 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:30724469C>T uc003gsk.1 + 1 2433 c.1425C>T c.(1423-1425)GAC>GAT p.D475D PCDH7_uc011bxw.1_Silent_p.D428D|PCDH7_uc011bxx.1_Silent_p.D475D NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 475 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CAGCCAGCGACACCGAGGGCG 0.627 NaN 0 0 0 1 0 8 31 WDR19 57728 broad.mit.edu 37 4 39280196 39280196 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:39280196G>C uc003gtv.2 + 36 4109 c.3955G>C c.(3955-3957)GAA>CAA p.E1319Q WDR19_uc011byi.1_Missense_Mutation_p.E1159Q NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1319 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TATGTGTTCAGAAAGATTAAA 0.443 NaN 0 0 0 1 0 23 37 TXK 7294 broad.mit.edu 37 4 48078437 48078437 + Nonsense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:48078437G>C uc003gxx.3 - 12 1306 c.1220C>G c.(1219-1221)TCA>TGA p.S407* TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Nonsense_Mutation_p.S94* NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 407 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TCCAAAGTCTGAAATTTTTAC 0.308 NaN 0 0 0 1 0 14 31 TXK 7294 broad.mit.edu 37 4 48078458 48078458 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:48078458G>A uc003gxx.3 - 12 1285 c.1199C>T c.(1198-1200)TCA>TTA p.S400L TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Missense_Mutation_p.S87L NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 400 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TATGCATGTTGAACTGACCAA 0.323 NaN 0 0 0 1 0 16 38 SLAIN2 57606 broad.mit.edu 37 4 48371957 48371957 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:48371957C>T uc003gya.3 + 2 625 c.481C>T c.(481-483)CCT>TCT p.P161S NM_020846 NP_065897 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 161 centrosome 0 TTACCCAAGTCCTGATGTTGA 0.358 NaN 0 0 0 1 0 8 45 PPAT 5471 broad.mit.edu 37 4 57272738 57272738 + Missense_Mutation SNP C C T rs141469911 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:57272738C>T uc003hbr.2 - 3 527 c.325G>A c.(325-327)GTT>ATT p.V109I NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 109 Glutamine amidotransferase type-2. glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) GTTTCAACAACGAAGGGCTGA 0.378 NaN 0 0 0 1 0 22 50 UBA6 55236 broad.mit.edu 37 4 68530981 68530981 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:68530981C>T uc003hdg.3 - 10 875 c.823G>A c.(823-825)GAC>AAC p.D275N UBA6_uc003hdi.2_Missense_Mutation_p.D275N|UBA6_uc003hdj.2_Missense_Mutation_p.D275N NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 275 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 TCTGTGGTGTCACCAATACTA 0.299 NaN 0 0 0 1 0 14 44 YTHDC1 91746 broad.mit.edu 37 4 69202901 69202901 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:69202901C>G uc003hdx.2 - 4 1080 c.727G>C c.(727-729)GAG>CAG p.E243Q YTHDC1_uc003hdy.2_Missense_Mutation_p.E243Q NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 243 Glu-rich. upper_aerodigestive_tract(1)|ovary(1) 2 tcctcctcctcctcctcctct 0.184 NaN 0 0 0 1 0 7 31 MOBKL1A 92597 broad.mit.edu 37 4 71824646 71824646 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:71824646C>T uc003hfw.2 + 2 260 c.70C>T c.(70-72)CAC>TAC p.H24Y MOBKL1A_uc003hfv.1_Missense_Mutation_p.H24Y|MOBKL1A_uc011cba.1_Missense_Mutation_p.H29Y NM_173468 NP_775739 Q7L9L4 MOL1A_HUMAN MOB1, Mps One Binder kinase activator-like 1A 24 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding 0 all_hematologic(202;0.21) Lung(101;0.235) AGAGGGTTCTCACCAGTATGA 0.413 NaN 0 0 0 1 0 59 24 MOBKL1A 92597 broad.mit.edu 37 4 71824735 71824735 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:71824735C>T uc003hfw.2 + 2 349 c.159C>T c.(157-159)CTC>CTT p.L53L MOBKL1A_uc003hfv.1_Silent_p.L53L|MOBKL1A_uc011cba.1_Silent_p.L58L NM_173468 NP_775739 Q7L9L4 MOL1A_HUMAN MOB1, Mps One Binder kinase activator-like 1A 53 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding 0 all_hematologic(202;0.21) Lung(101;0.235) GGGAAGATCTCAATGAATGGG 0.468 NaN 0 0 0 1 0 29 22 SEPT11 55752 broad.mit.edu 37 4 77952017 77952017 + Nonsense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:77952017G>T uc003hkj.2 + 9 1330 c.1168G>T c.(1168-1170)GAG>TAG p.E390* SEPT11_uc010ijh.1_Nonsense_Mutation_p.E382*|SEPT11_uc011cca.1_Nonsense_Mutation_p.E400* NM_018243 NP_060713 Q9NVA2 SEP11_HUMAN septin 11 390 Potential. cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding 0 GGAGCTTGAGGAGGAGGTGAA 0.468 NaN 1 0 7.48243e-07 1 7.82884e-07 10 37 SCD5 79966 broad.mit.edu 37 4 83552481 83552481 + Nonstop_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:83552481C>G uc003hna.2 - 5 1312 c.992G>C c.(991-993)TGA>TCA p.*331S NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 isoform a 331 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity ovary(1) 1 Colorectal(4;0.0323)|Hepatocellular(203;0.115) GTTCCAAGTTCAAGCACTGCT 0.562 NaN 0 0 0 1 0 5 17 COPS4 51138 broad.mit.edu 37 4 83984258 83984258 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:83984258C>G uc003hoa.2 + 7 884 c.745C>G c.(745-747)CTT>GTT p.L249V COPS4_uc003hob.2_Missense_Mutation_p.L249V|COPS4_uc010ijw.2_Missense_Mutation_p.L249V|COPS4_uc010ijx.2_Missense_Mutation_p.L249V NM_016129 NP_057213 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 249 PCI. cullin deneddylation cytoplasm|signalosome protein binding kidney(1) 1 Hepatocellular(203;0.114) GCTAGCTACTCTTTTTAAGGA 0.378 NaN 0 0 0 1 0 20 55 PTPN13 5783 broad.mit.edu 37 4 87622564 87622564 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:87622564G>C uc003hpz.2 + 7 1285 c.805G>C c.(805-807)GAA>CAA p.E269Q PTPN13_uc003hpy.2_Missense_Mutation_p.E269Q|PTPN13_uc003hqa.2_Missense_Mutation_p.E269Q|PTPN13_uc003hqb.2_Missense_Mutation_p.E269Q NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 269 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TGAAGATTCTGAAAATACATT 0.383 NaN 0 0 0 1 0 9 23 SLC10A6 345274 broad.mit.edu 37 4 87749251 87749251 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:87749251G>C uc003hqd.2 - 4 804 c.656C>G c.(655-657)TCT>TGT p.S219C NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 219 Extracellular (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) TGAATTCCAAGATCCTTTCGC 0.478 NaN 0 0 0 1 0 7 40 HERC6 55008 broad.mit.edu 37 4 89363544 89363544 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:89363544G>C uc011cdi.1 + 23 3184 c.3001G>C c.(3001-3003)GAG>CAG p.E1001Q HERC6_uc011cdj.1_Missense_Mutation_p.E965Q|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 1001 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GGAAAGAATGGAGGAAGCACT 0.428 NaN 0 0 0 1 0 4 18 FAM13A 10144 broad.mit.edu 37 4 89912254 89912254 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:89912254C>G uc003hse.1 - 4 683 c.475G>C c.(475-477)GAG>CAG p.E159Q FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.E159Q|FAM13A_uc003hsj.2_Missense_Mutation_p.E159Q NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 159 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 TCTGGCAGCTCTTTTATTAAG 0.383 NaN 0 0 0 1 0 6 20 TBCK 93627 broad.mit.edu 37 4 107170104 107170104 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:107170104C>T uc010ilv.2 - 8 1059 c.694G>A c.(694-696)GAG>AAG p.E232K TBCK_uc003hyb.2_5'Flank|TBCK_uc003hye.2_Missense_Mutation_p.E193K|TBCK_uc003hyc.2_Missense_Mutation_p.E169K|TBCK_uc003hyd.2_Missense_Mutation_p.E60K|TBCK_uc003hyf.2_Missense_Mutation_p.E232K NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 232 Protein kinase. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 CAACCATGCTCTTCAGCCAGA 0.219 NaN 0 0 0 1 0 18 15 SEC24B 10427 broad.mit.edu 37 4 110384480 110384480 + Nonsense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:110384480C>G uc003hzk.2 + 2 612 c.557C>G c.(556-558)TCA>TGA p.S186* SEC24B_uc003hzl.2_Nonsense_Mutation_p.S186*|SEC24B_uc011cfp.1_Nonsense_Mutation_p.S217*|SEC24B_uc011cfq.1_Nonsense_Mutation_p.S186*|SEC24B_uc011cfr.1_Nonsense_Mutation_p.S186* NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 186 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TATGCTATGTCAACTGTTTCT 0.453 NaN 0 0 0 1 0 44 144 PRDM5 11107 broad.mit.edu 37 4 121828712 121828712 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:121828712C>A uc003idn.2 - 2 344 c.94G>T c.(94-96)GGT>TGT p.G32C PRDM5_uc003ido.2_Missense_Mutation_p.G32C|PRDM5_uc010ine.2_Missense_Mutation_p.G32C|PRDM5_uc010inf.2_Missense_Mutation_p.G32C|PRDM5_uc003idp.1_Missense_Mutation_p.G32C NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 32 SET. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 AACTTTTCACCCTGAGTAGCA 0.358 NaN 1 0 5.35267e-07 1 5.62362e-07 20 26 KIAA1109 84162 broad.mit.edu 37 4 123274148 123274148 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:123274148G>C uc003ieh.2 + 79 13984 c.13939G>C c.(13939-13941)GAA>CAA p.E4647Q KIAA1109_uc003iem.2_Missense_Mutation_p.E1003Q NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4647 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TCCATTACCAGAAGATGGAAT 0.413 NaN 0 0 0 1 0 20 33 SLC25A31 83447 broad.mit.edu 37 4 128665848 128665848 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:128665848G>T uc003ifl.2 + 2 400 c.254G>T c.(253-255)GGC>GTC p.G85V NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; 85 Solcar 1. transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity 0 TTTTGGCGTGGCAATTTGGCA 0.318 NaN 1 0 2.23348e-06 1 2.32731e-06 17 67 RNF150 57484 broad.mit.edu 37 4 141832307 141832307 + Missense_Mutation SNP T T G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:141832307T>G uc003iio.1 - 6 1843 c.1189A>C c.(1189-1191)ACT>CCT p.T397P RNF150_uc010iok.1_Missense_Mutation_p.T355P|RNF150_uc003iip.1_Missense_Mutation_p.T397P NM_020724 NP_065775 Q9ULK6 RN150_HUMAN ring finger protein 150 precursor 397 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 all_hematologic(180;0.162) CTGTTAGTAGTAAAGATGACG 0.463 NaN 0 0 0 1 0 5 33 MORF4 10934 broad.mit.edu 37 4 174537200 174537200 + Silent SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr4:174537200A>G uc011cke.1 - 1 595 c.595T>C c.(595-597)TTA>CTA p.L199L NM_006792 NP_006783 mortality factor 4 0 Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107) all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TAATTGAGTAATAAAGCAAGG 0.428 NaN 0 0 0 1 0 22 30 CTNND2 1501 broad.mit.edu 37 5 11411762 11411762 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:11411762C>A uc003jfa.1 - 5 470 c.325G>T c.(325-327)GGT>TGT p.G109C CTNND2_uc010itt.2_Missense_Mutation_p.G18C|CTNND2_uc011cmy.1_Missense_Mutation_p.G18C|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 109 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TCTTTTTGACCATCTGAAATG 0.338 NaN 1 0 9.62906e-15 1 1.05753e-14 42 27 MYO10 4651 broad.mit.edu 37 5 16769282 16769282 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:16769282C>G uc003jft.3 - 10 1429 c.961G>C c.(961-963)GAG>CAG p.E321Q MYO10_uc010itx.2_5'Flank NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 321 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CGAACTTCCTCCTTGCTGAAC 0.418 NaN 0 0 0 1 0 7 34 CDH6 1004 broad.mit.edu 37 5 31317550 31317550 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:31317550G>C uc003jhe.1 + 10 1907 c.1581G>C c.(1579-1581)TTG>TTC p.L527F CDH6_uc003jhd.1_Missense_Mutation_p.L527F NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 527 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CGTTTTCCTTGGCCCCTGAAG 0.413 NaN 0 0 0 1 0 29 114 PDZD2 23037 broad.mit.edu 37 5 32074700 32074700 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:32074700C>T uc003jhl.2 + 18 3876 c.3488C>T c.(3487-3489)TCT>TTT p.S1163F PDZD2_uc003jhm.2_Missense_Mutation_p.S1163F|PDZD2_uc011cnx.1_Missense_Mutation_p.S989F NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1163 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CAGGCCACTTCTGTCAAAGTG 0.522 NaN 0 0 0 1 0 41 23 NIPBL 25836 broad.mit.edu 37 5 37016225 37016225 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:37016225G>A uc003jkl.3 + 23 5228 c.4729G>A c.(4729-4731)GAA>AAA p.E1577K NIPBL_uc003jkk.3_Missense_Mutation_p.E1577K NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1577 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CAATAAGCCTGAATGGCCAGC 0.368 NaN 0 0 0 1 0 57 34 EGFLAM 133584 broad.mit.edu 37 5 38407999 38407999 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:38407999G>C uc003jlc.1 + 9 1564 c.1240G>C c.(1240-1242)GAA>CAA p.E414Q EGFLAM_uc003jlb.1_Missense_Mutation_p.E414Q|EGFLAM_uc003jle.1_Missense_Mutation_p.E180Q|EGFLAM_uc003jlf.1_Intron NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 414 Laminin G-like 1. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) AATTACTCTTGAATTTAGGGT 0.413 NaN 0 0 0 1 0 13 61 HCN1 348980 broad.mit.edu 37 5 45396805 45396805 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:45396805G>A uc003jok.2 - 4 1044 c.1019C>T c.(1018-1020)TCT>TTT p.S340F NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 340 Extracellular (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTTTCCCCAAGAATCATTCTG 0.428 NaN 0 0 0 1 0 19 59 DHX29 54505 broad.mit.edu 37 5 54581607 54581607 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:54581607C>G uc003jpx.2 - 9 1269 c.1149G>C c.(1147-1149)CTG>CTC p.L383L DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 383 ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) CCCAATCAATCAGAAATTGTT 0.348 NaN 0 0 0 1 0 13 14 GFM2 84340 broad.mit.edu 37 5 74035829 74035829 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:74035829C>G uc003kdh.1 - 12 1368 c.1064G>C c.(1063-1065)CGT>CCT p.R355P GFM2_uc003kdi.1_Missense_Mutation_p.R355P|GFM2_uc010izj.1_Missense_Mutation_p.R387P|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.R355P|GFM2_uc010izl.1_Missense_Mutation_p.R313P NM_032380 NP_115756 Q969S9 RRF2M_HUMAN mitochondrial elongation factor G2 isoform 1 355 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity 0 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) TTCATAGTTACGCTCTTCAGG 0.363 NaN 0 0 0 1 0 17 1 WDR41 55255 broad.mit.edu 37 5 76736794 76736794 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:76736794G>A uc003kff.1 - 9 1013 c.726C>T c.(724-726)GTC>GTT p.V242V WDR41_uc011csy.1_Silent_p.V184V|WDR41_uc011csz.1_Silent_p.V187V|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA NM_018268 NP_060738 Q9HAD4 WDR41_HUMAN WD repeat domain 41 242 WD 4. 0 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) TCAGCTCTCCGACGTGGGAGC 0.453 NaN 0 0 0 1 0 11 27 SERINC5 256987 broad.mit.edu 37 5 79473155 79473155 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:79473155G>C uc003kgj.2 - 4 568 c.439C>G c.(439-441)CAG>GAG p.Q147E SERINC5_uc003kgk.2_Missense_Mutation_p.Q147E|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.Q147E|SERINC5_uc011ctj.1_Missense_Mutation_p.Q147E NM_178276 NP_840060 Q86VE9 SERC5_HUMAN developmentally regulated protein TPO1 147 Cytoplasmic (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) AAGGTGTCCTGATCTGGAATG 0.413 NaN 0 0 0 1 0 29 4 TTC37 9652 broad.mit.edu 37 5 94834293 94834293 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:94834293G>C uc003klb.2 - 33 3614 c.3344C>G c.(3343-3345)TCT>TGT p.S1115C NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1115 binding ovary(3)|pancreas(1) 4 CTTTAAGATAGAGCTGTAAAG 0.279 NaN 0 0 0 1 0 11 15 GLRX 2745 broad.mit.edu 37 5 95158310 95158310 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:95158310G>C uc003klo.3 - 1 268 c.57C>G c.(55-57)ATC>ATG p.I19M GLRX_uc003kln.3_Missense_Mutation_p.I19M NM_001118890 NP_001112362 P35754 GLRX1_HUMAN glutaredoxin (thioltransferase) 19 Glutaredoxin. cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport cytosol electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding 0 all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;2.62e-16) Glutathione(DB00143) AGGTGGGCTTGATGAACACAA 0.547 NaN 0 0 0 1 0 19 29 ERAP2 64167 broad.mit.edu 37 5 96219518 96219518 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:96219518G>C uc003kmq.2 + 3 1308 c.598G>C c.(598-600)GAG>CAG p.E200Q uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.E200Q|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.E194Q|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 200 Lumenal (Potential). Substrate (By similarity). antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding 0 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) AACAGATTTTGAGCCAACCCA 0.433 NaN 0 0 0 1 0 15 18 ERAP2 64167 broad.mit.edu 37 5 96249154 96249154 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:96249154C>T uc003kmq.2 + 17 3360 c.2650C>T c.(2650-2652)CTG>TTG p.L884L uc003kmo.1_Intron|ERAP2_uc003kmt.2_Silent_p.L884L|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Silent_p.L833L|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 884 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding 0 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GACCCATCTTCTGAAAAAGTT 0.413 NaN 0 0 0 1 0 7 15 RIOK2 55781 broad.mit.edu 37 5 96503580 96503580 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:96503580C>G uc003kmz.2 - 8 1098 c.988G>C c.(988-990)GAG>CAG p.E330Q RIOK2_uc003kna.3_Missense_Mutation_p.E330Q NM_018343 NP_060813 Q9BVS4 RIOK2_HUMAN RIO kinase 2 isoform 1 330 Protein kinase. ATP binding|protein serine/threonine kinase activity kidney(1) 1 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TCAGATCCCTCTTTTGTTTCA 0.408 NaN 0 0 0 1 0 52 69 REEP5 7905 broad.mit.edu 37 5 112238167 112238167 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:112238167C>G uc003kqe.1 - 3 405 c.261G>C c.(259-261)CTG>CTC p.L87L REEP5_uc011cvw.1_Silent_p.L60L|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Silent_p.L87L|REEP5_uc011cvz.1_Intron NM_005669 NP_005660 Q00765 REEP5_HUMAN receptor accessory protein 5 87 integral to membrane protein binding 0 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) CCCAGTAGGTCAGCCACTGGG 0.398 NaN 0 0 0 1 0 13 28 LOX 4015 broad.mit.edu 37 5 121413262 121413262 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:121413262G>A uc003ksu.2 - 1 794 c.419C>T c.(418-420)TCG>TTG p.S140L LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_5'Flank|LOX_uc010jcr.2_5'Flank NM_002317 NP_002308 P28300 LYOX_HUMAN lysyl oxidase preproprotein 140 protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity lung(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) CTCCGCGCGCGAGGCGCCAGC 0.692 NaN 0 0 0 1 0 14 3 PRRC1 133619 broad.mit.edu 37 5 126862374 126862374 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:126862374C>T uc003kuk.2 + 4 738 c.558C>T c.(556-558)ACC>ACT p.T186T PRRC1_uc003kuj.3_Silent_p.T186T NM_130809 NP_570721 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 186 Golgi apparatus 0 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) GAACTGGAACCACATCAGCCA 0.413 NaN 0 0 0 1 0 16 17 EGR1 1958 broad.mit.edu 37 5 137801586 137801586 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:137801586C>A uc003ldb.1 + 1 406 c.136C>A c.(136-138)CCC>ACC p.P46T EGR1_uc011cyu.1_Missense_Mutation_p.P46T NM_001964 NP_001955 P18146 EGR1_HUMAN early growth response 1 46 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CAACGGGGCTCCCCAGTTCCT 0.433 NaN 1 0 2.40579e-17 1 2.66234e-17 37 2 PCDHB1 29930 broad.mit.edu 37 5 140432144 140432144 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:140432144G>C uc003lik.1 + 1 1166 c.1089G>C c.(1087-1089)CAG>CAC p.Q363H NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 363 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCACCACAGACAGTAGTAG 0.502 NaN 0 0 0 1 0 19 31 PCDHB2 56133 broad.mit.edu 37 5 140476693 140476693 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:140476693C>T uc003lil.2 + 1 2457 c.2319C>T c.(2317-2319)ATC>ATT p.I773I PCDHB2_uc003lim.1_Silent_p.I434I NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 773 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCAATTATCCCCAACTTCG 0.512 NaN 0 0 0 1 0 40 10 PCDHB5 26167 broad.mit.edu 37 5 140516663 140516663 + Silent SNP G G A rs149096993 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:140516663G>A uc003liq.2 + 1 1864 c.1647G>A c.(1645-1647)CTG>CTA p.L549L NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 549 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCGCGTGCTGGTGCTGGACG 0.721 NaN 0 0 0 1 0 21 37 PCDHGA7 56108 broad.mit.edu 37 5 140763490 140763490 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:140763490G>A uc003lka.1 + 1 1024 c.1024G>A c.(1024-1026)GAT>AAT p.D342N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.D342N NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 342 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATGTAAATGATAATGCTCC 0.413 NaN 0 0 0 1 0 38 5 PCDHGA7 56108 broad.mit.edu 37 5 140763541 140763541 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:140763541G>A uc003lka.1 + 1 1075 c.1075G>A c.(1075-1077)GAC>AAC p.D359N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.D359N NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 359 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATCCCTGAAGACACACCTCT 0.418 NaN 0 0 0 1 0 26 4 SPINK5 11005 broad.mit.edu 37 5 147449904 147449904 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:147449904C>T uc003lox.2 + 3 173 c.100C>T c.(100-102)CAG>TAG p.Q34* SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Nonsense_Mutation_p.Q6*|SPINK5_uc010jgr.2_Intron|SPINK5_uc003low.2_Nonsense_Mutation_p.Q34*|SPINK5_uc003loy.2_Nonsense_Mutation_p.Q34* NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 34 Kazal-like 1; atypical. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATGAATTTCAGGCATTTAT 0.289 NaN 0 0 0 1 0 29 4 IL17B 27190 broad.mit.edu 37 5 148754083 148754083 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:148754083G>A uc003lqo.2 - 3 442 c.392C>T c.(391-393)ACC>ATC p.T131I NM_014443 NP_055258 Q9UHF5 IL17B_HUMAN interleukin 17B precursor 131 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTGCATGGTGAAGGGGTT 0.682 NaN 0 0 0 1 0 18 17 SLC36A3 285641 broad.mit.edu 37 5 150660605 150660605 + Missense_Mutation SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:150660605A>G uc003ltw.2 - 9 1533 c.1114T>C c.(1114-1116)TCT>CCT p.S372P GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.S357P|SLC36A3_uc003ltx.2_Missense_Mutation_p.S413P NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 372 Helical; (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGCGGACAGACAGGTCTACA 0.552 NaN 0 0 0 1 0 19 23 GEMIN5 25929 broad.mit.edu 37 5 154268890 154268890 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:154268890C>G uc003lvx.3 - 27 4433 c.4350G>C c.(4348-4350)GAG>GAC p.E1450D GEMIN5_uc011ddk.1_Missense_Mutation_p.E1449D NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 1450 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCTTAATGCTCTCAGGAAATT 0.368 NaN 0 0 0 1 0 13 16 ITK 3702 broad.mit.edu 37 5 156659373 156659373 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:156659373G>A uc003lwo.1 + 8 819 c.737G>A c.(736-738)CGA>CAA p.R246Q NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 246 SH2. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGTATCAGCCGAGACAAAGCT 0.269 NaN T SYK peripheral T-cell lymphoma 0 0 0 1 0 16 1 STK10 6793 broad.mit.edu 37 5 171544538 171544538 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:171544538C>T uc003mbo.1 - 4 767 c.467G>A c.(466-468)CGA>CAA p.R156Q NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 156 Protein kinase. ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTCAGATCTCGGTGGATGAT 0.597 NaN 0 0 0 1 0 16 19 UNC5A 90249 broad.mit.edu 37 5 176304229 176304229 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:176304229G>T uc003mey.2 + 9 1607 c.1415G>T c.(1414-1416)CGA>CTA p.R472L NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 472 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCATACCCCGAGGGAAGATC 0.637 NaN 1 0 7.26314e-15 1 7.98553e-15 29 2 MAPK9 5601 broad.mit.edu 37 5 179707519 179707519 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr5:179707519C>G uc003mls.3 - 2 314 c.43G>C c.(43-45)GTG>CTG p.V15L MAPK9_uc003mlt.3_Missense_Mutation_p.V15L|MAPK9_uc010jlc.2_Missense_Mutation_p.V15L|MAPK9_uc003mlv.3_Missense_Mutation_p.V15L|MAPK9_uc011dgx.1_Missense_Mutation_p.V15L NM_002752 NP_002743 P45984 MK09_HUMAN mitogen-activated protein kinase 9 isoform JNK2 15 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding|protein binding central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1) 4 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGTCTGCCACTTGCACACTA 0.458 NaN 0 0 0 1 0 8 43 ACOT13 55856 broad.mit.edu 37 6 24667557 24667557 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:24667557G>C uc003nek.2 + 1 295 c.66G>C c.(64-66)GAG>GAC p.E22D TDP2_uc003nei.2_5'Flank|TDP2_uc003nej.2_5'Flank|TDP2_uc010jpu.1_5'Flank|ACOT13_uc010jpv.2_5'UTR NM_018473 NP_060943 Q9NPJ3 ACO13_HUMAN acyl-CoA thioesterase 13 isoform 1 22 protein homotetramerization mitochondrion acyl-CoA thioesterase activity 0 GCAATTTTGAGAGAGTTTTGG 0.502 NaN OREG0017230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 13 29 FAM65B 9750 broad.mit.edu 37 6 24843425 24843425 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:24843425C>G uc003neo.1 - 14 1761 c.1585G>C c.(1585-1587)GAG>CAG p.E529Q FAM65B_uc011djs.1_Missense_Mutation_p.E508Q|FAM65B_uc011dju.1_Missense_Mutation_p.E513Q|FAM65B_uc003nep.2_Missense_Mutation_p.E479Q|FAM65B_uc011djt.1_Missense_Mutation_p.E479Q NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 529 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 AACAGGTGCTCAGCCCCAGCA 0.572 NaN 0 0 0 1 0 18 68 LRRC16A 55604 broad.mit.edu 37 6 25581557 25581557 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:25581557C>T uc011djw.1 + 31 3272 c.2896C>T c.(2896-2898)CGG>TGG p.R966W LRRC16A_uc010jpx.2_Missense_Mutation_p.R966W|LRRC16A_uc010jpy.2_Missense_Mutation_p.R966W NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 966 LRR 11.|Inhibits capping activity of CAPZA2 (By similarity). actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 ACAGGAGAAGCGGAGCTCGGG 0.463 NaN 0 0 0 1 0 15 5 DHX16 8449 broad.mit.edu 37 6 30624524 30624524 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:30624524G>C uc003nqz.2 - 14 2373 c.2161C>G c.(2161-2163)CAG>GAG p.Q721E DHX16_uc003nqy.2_Missense_Mutation_p.Q240E|DHX16_uc011dmo.1_Missense_Mutation_p.Q661E NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 721 Helicase C-terminal. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 CCAGCTCGCTGATTGGCTGAG 0.542 NaN 0 0 0 1 0 18 50 HLA-C 3107 broad.mit.edu 37 6 31237268 31237268 + Splice_Site SNP A A C rs111308207 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:31237268A>C uc003nsy.2 - 6 1055 c.1048_splice c.e6+1 p.C350_splice HLA-C_uc011dnj.1_Splice_Site_p.C322_splice|HLA-C_uc003nsx.2_Splice_Site_p.C229_splice|HLA-C_uc003nsz.2_Splice_Site_p.C356_splice|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Splice_Site_p.S350_splice|HLA-C_uc003ntb.2_Splice_Site|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Splice_Site NM_002117 NP_002108 Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex 0 GCCATCACTTACACGCAGCCT 0.557 NaN 0 0 0 1 0 5 14 TEAD3 7005 broad.mit.edu 37 6 35443426 35443426 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:35443426G>A uc003oku.3 - 11 1194 c.958C>T c.(958-960)CAG>TAG p.Q320* TEAD3_uc003okt.2_Nonsense_Mutation_p.Q209*|TEAD3_uc010jvx.2_Nonsense_Mutation_p.Q260* NM_003214 NP_003205 Q99594 TEAD3_HUMAN TEA domain family member 3 320 Transcriptional activation (Potential). female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GAGCTGTACTGAGAGCTGACC 0.612 NaN 0 0 0 1 0 18 39 TULP1 7287 broad.mit.edu 37 6 35478728 35478728 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:35478728C>G uc003okv.3 - 5 421 c.409G>C c.(409-411)GAG>CAG p.E137Q TULP1_uc003okw.3_Missense_Mutation_p.E84Q NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 137 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 AGGATTTTctctttcttttcc 0.408 NaN 0 0 0 1 0 19 31 LHFPL5 222662 broad.mit.edu 37 6 35773514 35773514 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:35773514C>T uc003olg.1 + 1 444 c.67C>T c.(67-69)CGA>TGA p.R23* NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 23 integral to membrane skin(1) 1 GCGGAACTCGCGAGCCGTGGG 0.617 NaN 0 0 0 1 0 24 59 BTBD9 114781 broad.mit.edu 37 6 38561774 38561774 + Missense_Mutation SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:38561774A>G uc003ooa.3 - 4 1091 c.515T>C c.(514-516)GTC>GCC p.V172A BTBD9_uc003ony.3_Missense_Mutation_p.V104A|BTBD9_uc010jwv.2_Missense_Mutation_p.V104A|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.V172A NM_052893 NP_443125 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 isoform a 172 BACK. cell adhesion 0 ACTTGAGAGGACTTCCTGAGC 0.383 NaN 0 0 0 1 0 48 137 GLO1 2739 broad.mit.edu 37 6 38670780 38670780 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:38670780G>A uc003ooc.2 - 1 173 c.51C>T c.(49-51)CTC>CTT p.L17L NM_006708 NP_006699 Q04760 LGUL_HUMAN glyoxalase I 17 anti-apoptosis|carbohydrate metabolic process cytoplasm lactoylglutathione lyase activity|metal ion binding ovary(1) 1 Glutathione(DB00143) AGCAGCAACTGAGGGCGGCCT 0.692 NaN 0 0 0 1 0 10 1 ZNF318 24149 broad.mit.edu 37 6 43322436 43322436 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:43322436G>C uc003oux.2 - 4 2714 c.2636C>G c.(2635-2637)TCT>TGT p.S879C ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 879 Potential. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTTCTCATCAGAGATCTTCTC 0.438 NaN 0 0 0 1 0 67 5 NFKBIE 4794 broad.mit.edu 37 6 44232769 44232769 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:44232769C>G uc003oxe.1 - 1 757 c.732G>C c.(730-732)CTG>CTC p.L244L NM_004556 NP_004547 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene 244 cytoplasmic sequestering of transcription factor protein binding breast(2) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCTGAGGGCTCAGCGCCCCCA 0.662 NaN 0 0 0 1 0 3 2 C6orf138 442213 broad.mit.edu 37 6 47847059 47847059 + Silent SNP A A C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:47847059A>C uc011dwm.1 - 3 1555 c.1470T>G c.(1468-1470)GTT>GTG p.V490V C6orf138_uc011dwn.1_Silent_p.V254V NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 507 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 ATTTCTGCTGAACCATGGCAT 0.478 NaN 0 0 0 1 0 9 3 TFAP2D 83741 broad.mit.edu 37 6 50740451 50740451 + Silent SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:50740451A>G uc003paf.2 + 8 1745 c.1233A>G c.(1231-1233)AAA>AAG p.K411K TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 411 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) ACTTGGAAAAACACACTACTC 0.502 NaN 0 0 0 1 0 16 28 GSTA2 2939 broad.mit.edu 37 6 52615459 52615459 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:52615459C>G uc003pay.2 - 7 735 c.585G>C c.(583-585)AAG>AAC p.K195N NM_000846 NP_000837 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 195 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) GTAGAAACTTCTTCACTGTGG 0.453 NaN 0 0 0 1 0 54 38 BAI3 577 broad.mit.edu 37 6 69949067 69949067 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:69949067C>T uc003pev.3 + 20 3211 c.2763C>T c.(2761-2763)ATC>ATT p.I921I BAI3_uc010kak.2_Silent_p.I921I|BAI3_uc011dxx.1_Silent_p.I127I|BAI3_uc003pex.1_Silent_p.I51I NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 921 Helical; Name=2; (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GCCTGTCTATCATCTCATCCA 0.353 NaN 0 0 0 1 0 37 44 COL9A1 1297 broad.mit.edu 37 6 70964891 70964891 + Silent SNP T T G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:70964891T>G uc003pfg.3 - 23 1732 c.1573A>C c.(1573-1575)AGA>CGA p.R525R COL9A1_uc003pfe.3_Silent_p.R98R|COL9A1_uc003pff.3_Silent_p.R282R NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 525 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 GGAATTCCTCTAGCACCTTCA 0.443 NaN 0 0 0 1 0 37 55 BEND3 57673 broad.mit.edu 37 6 107391788 107391788 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:107391788G>C uc003prs.2 - 5 1257 c.607C>G c.(607-609)CTG>GTG p.L203V NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 203 ovary(3) 3 AGGGTGTTCAGCATGTAGAAC 0.572 NaN 0 0 0 1 0 4 27 MICAL1 64780 broad.mit.edu 37 6 109766413 109766413 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:109766413C>T uc003ptj.2 - 21 3122 c.2868G>A c.(2866-2868)TTG>TTA p.L956L MICAL1_uc003ptk.2_Silent_p.L956L|MICAL1_uc010kdr.2_Silent_p.L870L|MICAL1_uc011eaq.1_Silent_p.L975L NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 956 Potential. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TCTGGCGCCTCAAGGCCAGCT 0.592 NaN 0 0 0 1 0 16 19 REV3L 5980 broad.mit.edu 37 6 111697217 111697217 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:111697217C>T uc003puy.3 - 13 2664 c.2341G>A c.(2341-2343)GAA>AAA p.E781K REV3L_uc003pux.3_Missense_Mutation_p.E703K|REV3L_uc003puz.3_Missense_Mutation_p.E703K NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 781 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GTTTTATGTTCTTGAAATTCT 0.378 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 1 0 23 33 C6orf225 619208 broad.mit.edu 37 6 112420507 112420507 + Silent SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:112420507C>A uc003pvs.2 + 3 446 c.21C>A c.(19-21)ACC>ACA p.T7T NM_001033564 NP_001028736 Q4G0N7 CF225_HUMAN hypothetical protein LOC619208 7 0 AATTTGGAACCCAGCCAAGGA 0.428 NaN 1 0 2.70639e-06 1 2.8172e-06 21 31 STX7 8417 broad.mit.edu 37 6 132785148 132785148 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:132785148C>T uc003qdg.2 - 9 927 c.677G>A c.(676-678)AGG>AAG p.R226K STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Missense_Mutation_p.R51K NM_003569 NP_003560 O15400 STX7_HUMAN syntaxin 7 226 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity 0 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) ATCTGCTGCCCTTGACAGCTG 0.393 NaN 0 0 0 1 0 28 35 TAAR5 9038 broad.mit.edu 37 6 132910508 132910508 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:132910508G>C uc003qdk.2 - 1 370 c.318C>G c.(316-318)CTC>CTG p.L106L NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 106 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GCAGGCGGCAGAGGAAGTCCC 0.592 NaN 0 0 0 1 0 30 31 GRM1 2911 broad.mit.edu 37 6 146350756 146350756 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:146350756C>T uc010khw.1 + 2 573 c.103C>T c.(103-105)CAG>TAG p.Q35* GRM1_uc010khu.1_Nonsense_Mutation_p.Q35*|GRM1_uc010khv.1_Nonsense_Mutation_p.Q35*|GRM1_uc003qll.2_Nonsense_Mutation_p.Q35*|GRM1_uc011edz.1_Nonsense_Mutation_p.Q35*|GRM1_uc011eea.1_Nonsense_Mutation_p.Q35* NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 35 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AGCGTCGTCTCAGCGCTCGGT 0.582 NaN 0 0 0 1 0 44 81 SYNE1 23345 broad.mit.edu 37 6 152583209 152583209 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:152583209C>G uc010kiw.2 - 101 19532 c.18930G>C c.(18928-18930)CAG>CAC p.Q6310H SYNE1_uc010kiv.2_Missense_Mutation_p.Q834H|SYNE1_uc003qos.3_Missense_Mutation_p.Q834H|SYNE1_uc003qot.3_Missense_Mutation_p.Q6239H|SYNE1_uc003qou.3_Missense_Mutation_p.Q6310H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6310 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) GTAGTAGTTTCTGCTTGGTAC 0.368 NaN HNSCC(10;0.0054) 0 0 0 1 0 15 28 SYNE1 23345 broad.mit.edu 37 6 152599392 152599392 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:152599392C>G uc010kiw.2 - 98 19007 c.18405G>C c.(18403-18405)CAG>CAC p.Q6135H SYNE1_uc010kiv.2_Missense_Mutation_p.Q659H|SYNE1_uc003qos.3_Missense_Mutation_p.Q659H|SYNE1_uc003qot.3_Missense_Mutation_p.Q6064H|SYNE1_uc003qou.3_Missense_Mutation_p.Q6135H|SYNE1_uc010kiy.1_Missense_Mutation_p.Q314H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6135 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) CCACCACCTTCTGCTCTATTT 0.498 NaN HNSCC(10;0.0054) 0 0 0 1 0 6 95 TAGAP 117289 broad.mit.edu 37 6 159457377 159457377 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:159457377C>G uc003qrz.2 - 10 2010 c.1678G>C c.(1678-1680)GAA>CAA p.E560Q TAGAP_uc011eft.1_Missense_Mutation_p.E497Q|TAGAP_uc003qsa.2_Missense_Mutation_p.E382Q NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 560 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTGTGGGTTTCACACCCATTT 0.607 NaN 0 0 0 1 0 7 38 RPS6KA2 6196 broad.mit.edu 37 6 166923801 166923801 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:166923801C>T uc003qvb.1 - 4 562 c.343G>A c.(343-345)GAA>AAA p.E115K RPS6KA2_uc011ego.1_Missense_Mutation_p.E26K|RPS6KA2_uc010kkl.1_Missense_Mutation_p.E26K|RPS6KA2_uc003qvc.1_Missense_Mutation_p.E123K|RPS6KA2_uc003qvd.1_Missense_Mutation_p.E140K|MIR1913_hsa-mir-1913|MI0008334_5'Flank NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 115 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TGATTCACTTCTGCCAAGATG 0.423 NaN 0 0 0 1 0 16 26 MEOX2 4223 broad.mit.edu 37 7 15666538 15666538 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:15666538G>A uc003stc.2 - 2 804 c.523C>T c.(523-525)CAG>TAG p.Q175* MEOX2_uc011jxw.1_Nonsense_Mutation_p.Q175* NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 175 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TTTCCTTCCTGGGAGTCTGAA 0.363 NaN 0 0 0 1 0 14 60 HOXA10 3206 broad.mit.edu 37 7 27211618 27211618 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:27211618C>T uc011jzm.1 - 2 1163 c.1133G>A c.(1132-1134)AGA>AAA p.R378K MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.3_Missense_Mutation_p.R62K NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 378 Homeobox. spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TTTCACTTGTCTGTCCGTGAG 0.483 NaN 0 0 0 1 0 27 84 ANLN 54443 broad.mit.edu 37 7 36438741 36438741 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:36438741G>A uc003tff.2 + 3 430 c.226G>A c.(226-228)GAA>AAA p.E76K ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Missense_Mutation_p.E76K|ANLN_uc010kxe.2_Missense_Mutation_p.E76K NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 76 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 TGACAACACTGAAGTAGAAGT 0.373 NaN 0 0 0 1 0 11 31 AEBP1 165 broad.mit.edu 37 7 44144280 44144280 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:44144280G>T uc003tkb.2 + 1 321 c.16G>T c.(16-18)GGG>TGG p.G6W NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 6 cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ggccgtgcgcggggcgccccT 0.368 NaN 1 0 0.004672 1 0.00472309 3 4 ABCA13 154664 broad.mit.edu 37 7 48450206 48450206 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:48450206T>C uc003toq.2 + 40 12185 c.12160T>C c.(12160-12162)TGC>CGC p.C4054R ABCA13_uc010kys.1_Missense_Mutation_p.C1128R|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4054 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GAGGCTCAGGTGCTGCGGTCC 0.597 NaN 0 0 0 1 0 46 83 ABCB4 5244 broad.mit.edu 37 7 87060748 87060748 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:87060748C>A uc003uiv.1 - 15 1941 c.1865G>T c.(1864-1866)GGG>GTG p.G622V ABCB4_uc003uiw.1_Missense_Mutation_p.G622V|ABCB4_uc003uix.1_Missense_Mutation_p.G622V NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 622 ABC transporter 1.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GAAGTACACCCCTTCCTTCTT 0.413 NaN 1 0 3.52763e-06 1 3.66456e-06 18 113 SLC25A40 55972 broad.mit.edu 37 7 87485664 87485664 + Missense_Mutation SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:87485664T>A uc003uje.2 - 4 451 c.100A>T c.(100-102)ACA>TCA p.T34S NM_018843 NP_061331 Q8TBP6 S2540_HUMAN mitochondrial carrier family protein 34 Solcar 1.|Helical; Name=1; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1) 1 Esophageal squamous(14;0.00202) TCCAGGGGTGTCACTATGAAG 0.343 NaN 0 0 0 1 0 23 155 ADAM22 53616 broad.mit.edu 37 7 87743932 87743932 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:87743932C>G uc003ujn.2 + 6 586 c.507C>G c.(505-507)CTC>CTG p.L169L ADAM22_uc003uji.1_Silent_p.L168L|ADAM22_uc003ujj.1_Silent_p.L169L|ADAM22_uc003ujk.1_Silent_p.L169L|ADAM22_uc003ujl.1_Silent_p.L169L|ADAM22_uc003ujm.2_Silent_p.L169L|ADAM22_uc003ujo.2_Silent_p.L169L|ADAM22_uc003ujp.1_Silent_p.L221L NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 169 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ACACATATCTCATTGAGCCAG 0.398 NaN 0 0 0 1 0 11 59 HEPACAM2 253012 broad.mit.edu 37 7 92848468 92848468 + Missense_Mutation SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:92848468T>A uc003umm.2 - 2 399 c.376A>T c.(376-378)ATT>TTT p.I126F HEPACAM2_uc003uml.2_Missense_Mutation_p.I114F|HEPACAM2_uc010lff.2_Missense_Mutation_p.I114F|HEPACAM2_uc011khy.1_Missense_Mutation_p.I149F NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 126 Extracellular (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 TTTCCCTGAATGTTGACCTTC 0.443 NaN 0 0 0 1 0 23 72 PEG10 23089 broad.mit.edu 37 7 94293033 94293033 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:94293033G>A uc011kie.1 + 2 610 c.393G>A c.(391-393)GAG>GAA p.E131E NM_001040152 NP_001035242 Q86TG7 PEG10_HUMAN paternally expressed 10 isoform RF1 55 apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CTGAGGATGAGGATGATGACA 0.587 NaN 0 0 0 1 0 3 20 C7orf43 55262 broad.mit.edu 37 7 99755004 99755004 + Missense_Mutation SNP A A T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:99755004A>T uc003utr.2 - 4 896 c.716T>A c.(715-717)GTG>GAG p.V239E C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'UTR|C7orf43_uc003uts.2_5'UTR NM_018275 NP_060745 Q8WVR3 CG043_HUMAN hypothetical protein LOC55262 239 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACCCTTGAGCACGGTCAAGTG 0.632 NaN OREG0018198 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 5 41 AP1S1 1174 broad.mit.edu 37 7 100802372 100802372 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:100802372G>A uc003uxv.3 + 4 434 c.324G>A c.(322-324)GAG>GAA p.E108E NM_001283 NP_001274 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 108 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) TCAACTTTGAGAAGGCCTACT 0.552 NaN 0 0 0 1 0 6 45 VGF 7425 broad.mit.edu 37 7 100808035 100808035 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:100808035C>T uc003uxx.3 - 2 308 c.90G>A c.(88-90)GCG>GCA p.A30A NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 30 response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) GAGGAGGCTGCGCCTCAGGGC 0.652 NaN 0 0 0 1 0 4 21 PSMC2 5701 broad.mit.edu 37 7 102996214 102996214 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:102996214G>C uc003vbs.2 + 4 334 c.264G>C c.(262-264)CAG>CAC p.Q88H SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.Q88H|PSMC2_uc011klo.1_Intron NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 88 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 AGACACTCCAGAGTGAACAGC 0.453 NaN 0 0 0 1 0 31 22 MLL5 55904 broad.mit.edu 37 7 104748167 104748167 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:104748167C>T uc003vcm.2 + 22 3797 c.3263C>T c.(3262-3264)ACA>ATA p.T1088I MLL5_uc010ljc.2_Missense_Mutation_p.T1088I|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_5'UTR|MLL5_uc010ljh.1_5'Flank NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1088 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 AGGGACCTGACACCCTCGCAT 0.493 NaN 0 0 0 1 0 4 42 LAMB1 3912 broad.mit.edu 37 7 107564523 107564523 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:107564523C>G uc003vew.2 - 34 5569 c.5234G>C c.(5233-5235)AGA>ACA p.R1745T LAMB1_uc003vev.2_Missense_Mutation_p.R1769T|LAMB1_uc003veu.2_Missense_Mutation_p.R228T NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1745 Potential.|Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCATATTTTCTTTCTAAATC 0.303 NaN 0 0 0 1 0 29 17 LAMB1 3912 broad.mit.edu 37 7 107566684 107566684 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:107566684C>G uc003vew.2 - 32 5343 c.5008G>C c.(5008-5010)GAA>CAA p.E1670Q LAMB1_uc003vev.2_Missense_Mutation_p.E1694Q|LAMB1_uc003veu.2_Missense_Mutation_p.E153Q NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1670 Potential.|Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAATATATTCTGCCTCCCCG 0.423 NaN 0 0 0 1 0 15 81 NRCAM 4897 broad.mit.edu 37 7 107849877 107849877 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:107849877C>G uc003vfb.2 - 12 1534 c.1063G>C c.(1063-1065)GTT>CTT p.V355L NRCAM_uc003vfc.2_Missense_Mutation_p.V349L|NRCAM_uc011kmk.1_Missense_Mutation_p.V350L|NRCAM_uc003vfd.2_Missense_Mutation_p.V331L|NRCAM_uc003vfe.2_Missense_Mutation_p.V331L NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 355 Ig-like 3.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 TTAACTCTAACAGAAATGGTA 0.338 NaN 0 0 0 1 0 47 61 FOXP2 93986 broad.mit.edu 37 7 114299708 114299708 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:114299708C>T uc003vhb.2 + 13 2001 c.1627C>T c.(1627-1629)CGT>TGT p.R543C FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.R568C|FOXP2_uc003vha.2_Missense_Mutation_p.R451C|FOXP2_uc011kmu.1_Missense_Mutation_p.R560C|FOXP2_uc011kmv.1_Missense_Mutation_p.R542C|FOXP2_uc010ljz.1_Missense_Mutation_p.R358C|FOXP2_uc003vhe.1_Missense_Mutation_p.R113C NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 543 Fork-head. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TTACTTCAGGCGTAATGCAGC 0.318 NaN 0 0 0 1 0 17 91 CFTR 1080 broad.mit.edu 37 7 117232152 117232152 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:117232152T>C uc003vjd.2 + 14 2063 c.1931T>C c.(1930-1932)CTC>CCC p.L644P CFTR_uc011knq.1_Missense_Mutation_p.L50P NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 644 Cytoplasmic (Potential).|ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AGCTCAAAACTCATGGGATGT 0.373 NaN Cystic_Fibrosis 0 0 0 1 0 23 86 AASS 10157 broad.mit.edu 37 7 121773712 121773712 + Missense_Mutation SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:121773712T>A uc003vka.2 - 1 165 c.69A>T c.(67-69)AAA>AAT p.K23N AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.K23N|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 23 protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) CCAACACAGCTTTGTGGTGAA 0.557 NaN 0 0 0 1 0 107 72 RNF148 378925 broad.mit.edu 37 7 122342732 122342732 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:122342732G>C uc003vkk.1 - 1 290 c.73C>G c.(73-75)CTA>GTA p.L25V CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.L25V NM_198085 NP_932351 Q8N7C7 RN148_HUMAN ring finger protein 148 precursor 25 integral to membrane zinc ion binding 0 CTAAGTAGTAGAAAGATACTA 0.403 NaN 0 0 0 1 0 5 27 SLC13A1 6561 broad.mit.edu 37 7 122839945 122839945 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:122839945G>A uc003vkm.2 - 1 81 c.56C>T c.(55-57)ACT>ATT p.T19I SLC13A1_uc010lks.2_5'UTR NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 19 Helical; (Potential). integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) AACCAACACAGTGAAAACCAC 0.433 NaN 0 0 0 1 0 25 21 IQUB 154865 broad.mit.edu 37 7 123152297 123152297 + Nonsense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:123152297G>C uc003vkn.2 - 2 675 c.98C>G c.(97-99)TCA>TGA p.S33* IQUB_uc003vko.2_Nonsense_Mutation_p.S33*|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Nonsense_Mutation_p.S33*|IQUB_uc003vkq.2_Nonsense_Mutation_p.S33* NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 33 ovary(3)|large_intestine(1) 4 AGGCTCTTCTGAGGGAACTGG 0.398 NaN 0 0 0 1 0 20 133 SPAM1 6677 broad.mit.edu 37 7 123594167 123594167 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:123594167C>G uc003vld.2 + 4 945 c.543C>G c.(541-543)CTC>CTG p.L181L SPAM1_uc003vle.2_Silent_p.L181L|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.L181L|SPAM1_uc010lku.2_Silent_p.L181L NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 181 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) AACTTAGTCTCACAGAGGCCA 0.388 NaN 0 0 0 1 0 22 71 ZNF800 168850 broad.mit.edu 37 7 127014383 127014383 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:127014383G>A uc003vlx.1 - 5 1270 c.1007C>T c.(1006-1008)TCT>TTT p.S336F ZNF800_uc003vlw.1_Missense_Mutation_p.S239F|ZNF800_uc003vly.1_Missense_Mutation_p.S336F|ZNF800_uc010lla.2_Missense_Mutation_p.S336F NM_176814 NP_789784 Q2TB10 ZN800_HUMAN zinc finger protein 800 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTTTTAGGAGAAATAGAATC 0.373 NaN 0 0 0 1 0 35 59 CALU 813 broad.mit.edu 37 7 128407602 128407602 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:128407602G>A uc003vns.2 + 6 888 c.736G>A c.(736-738)GAT>AAT p.D246N CALU_uc003vnq.2_Missense_Mutation_p.D246N|CALU_uc003vnr.2_Missense_Mutation_p.D246N NM_001130674 NP_001124146 O43852 CALU_HUMAN calumenin isoform b precursor 246 EF-hand 5.|5 (Potential). platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding 0 TAAGAACCGTGATGGGAAGAT 0.493 NaN 0 0 0 1 0 18 88 NUP205 23165 broad.mit.edu 37 7 135303333 135303333 + Missense_Mutation SNP A A C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:135303333A>C uc003vsw.2 + 28 3976 c.3945A>C c.(3943-3945)TTA>TTC p.L1315F NUP205_uc003vsx.2_5'Flank NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1315 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 GTGATATTTTACAAGATGTGC 0.378 NaN 0 0 0 1 0 29 141 DGKI 9162 broad.mit.edu 37 7 137271945 137271945 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:137271945G>C uc003vtt.2 - 13 1324 c.1323C>G c.(1321-1323)ATC>ATG p.I441M DGKI_uc003vtu.2_Missense_Mutation_p.I141M NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 441 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 GGATGGAAAGGATCCAGCCCA 0.517 NaN 0 0 0 1 0 35 27 KIAA1549 57670 broad.mit.edu 37 7 138588413 138588413 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:138588413G>A uc011kql.1 - 8 3639 c.3590C>T c.(3589-3591)GCC>GTC p.A1197V KIAA1549_uc003vuk.3_Missense_Mutation_p.A1147V|KIAA1549_uc011kqj.1_Missense_Mutation_p.A1197V NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1197 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GAGCAGCTGGGCCAGCTTGCG 0.532 NaN O BRAF pilocytic astrocytoma 0 0 0 1 0 6 21 TBXAS1 6916 broad.mit.edu 37 7 139715540 139715540 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:139715540C>G uc011kqv.1 + 12 1549 c.1385C>G c.(1384-1386)GCT>GGT p.A462G TBXAS1_uc003vvh.2_Missense_Mutation_p.A416G|TBXAS1_uc010lne.2_Missense_Mutation_p.A348G|TBXAS1_uc011kqu.1_Missense_Mutation_p.A367G|TBXAS1_uc003vvi.2_Missense_Mutation_p.A416G|TBXAS1_uc003vvj.2_Missense_Mutation_p.A416G|TBXAS1_uc011kqw.1_Missense_Mutation_p.A396G NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 415 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) CGGGAGGCAGCTCAGGACTGC 0.647 NaN 0 0 0 1 0 13 85 PRSS1 5644 broad.mit.edu 37 7 142459637 142459637 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:142459637G>A uc003wak.2 + 3 230 c.213G>A c.(211-213)GTG>GTA p.V71V uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.V11V NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 71 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GCATCCAGGTGAGACTGGGAG 0.577 NaN Hereditary_Pancreatitis 0 0 0 1 0 12 198 TAS2R40 259286 broad.mit.edu 37 7 142919411 142919411 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:142919411C>A uc011ksx.1 + 1 240 c.240C>A c.(238-240)TTC>TTA p.F80L NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 80 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) AGAACATTTTCAGTCTGCTAT 0.448 NaN 1 0 2.48779e-11 1 2.68302e-11 27 83 OR2A14 135941 broad.mit.edu 37 7 143826871 143826871 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:143826871C>T uc011kua.1 + 1 666 c.666C>T c.(664-666)GCC>GCT p.A222A NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) GCATCCTGGCCGCCATCTTGA 0.612 NaN 0 0 0 1 0 114 124 CUL1 8454 broad.mit.edu 37 7 148463737 148463737 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:148463737G>A uc010lpg.2 + 8 1400 c.874G>A c.(874-876)GAA>AAA p.E292K CUL1_uc003wey.2_Missense_Mutation_p.E292K|CUL1_uc003wez.2_Missense_Mutation_p.E182K NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 292 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AAGGAAATGTGAACAAGTCCT 0.378 NaN 0 0 0 1 0 14 54 PDIA4 9601 broad.mit.edu 37 7 148702271 148702271 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:148702271G>C uc003wff.2 - 9 1766 c.1484C>G c.(1483-1485)TCT>TGT p.S495C NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 495 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) GAGGGTGTCAGAGTCAAACTC 0.597 NaN 0 0 0 1 0 8 155 ABCB8 11194 broad.mit.edu 37 7 150737621 150737621 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:150737621G>C uc003wil.3 + 12 1432 c.1339G>C c.(1339-1341)GAG>CAG p.E447Q ABCB8_uc010lpw.1_Missense_Mutation_p.E319Q|ABCB8_uc010lpx.2_Missense_Mutation_p.E430Q|ABCB8_uc011kvd.1_Missense_Mutation_p.E342Q|ABCB8_uc003wim.3_Missense_Mutation_p.E225Q|ABCB8_uc003wik.3_Missense_Mutation_p.E430Q NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 447 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGGGTCTTTGAGTACATGGC 0.622 NaN 0 0 0 1 0 33 46 ABCB8 11194 broad.mit.edu 37 7 150737667 150737667 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:150737667G>T uc003wil.3 + 12 1478 c.1385G>T c.(1384-1386)TGC>TTC p.C462F ABCB8_uc010lpw.1_Missense_Mutation_p.C334F|ABCB8_uc010lpx.2_Missense_Mutation_p.C445F|ABCB8_uc011kvd.1_Missense_Mutation_p.C357F|ABCB8_uc003wim.3_Missense_Mutation_p.C240F|ABCB8_uc003wik.3_Missense_Mutation_p.C445F NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 462 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGGGGCTGCTGCGTCCCCAAA 0.647 NaN 1 0 1.42033e-22 1 1.59083e-22 34 48 MLL3 58508 broad.mit.edu 37 7 151962147 151962147 + Missense_Mutation SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 T A T T Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:151962147T>A uc003wla.2 - 8 1379 c.1160A>T c.(1159-1161)GAG>GTG p.E387V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 387 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CACTTTGCACTCAGGACATTG 0.413 NaN N medulloblastoma 0 0 0 1 0 22 241 RBM33 155435 broad.mit.edu 37 7 155534734 155534734 + Silent SNP G G A rs113181766 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:155534734G>A uc010lqk.1 + 13 2639 c.2271G>A c.(2269-2271)ACG>ACA p.T757T RBM33_uc011kvv.1_Silent_p.T566T NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 757 nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) AGGGAAAGACGGAAGTGAAAG 0.547 NaN 0 0 0 1 0 9 41 CSMD1 64478 broad.mit.edu 37 8 3009031 3009031 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:3009031G>T uc011kwk.1 - 40 6312 c.5922C>A c.(5920-5922)ACC>ACA p.T1974T CSMD1_uc011kwj.1_Silent_p.T1366T|CSMD1_uc003wqe.2_Silent_p.T1130T|CSMD1_uc010lrg.2_Silent_p.T42T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1974 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCCTCCACAGGTTGCTGTTA 0.527 NaN 1 0 0.00909568 1 0.00914966 3 2 PNOC 5368 broad.mit.edu 37 8 28196682 28196682 + Silent SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:28196682C>A uc010lva.2 + 3 460 c.252C>A c.(250-252)CTC>CTA p.L84L PNOC_uc003xgp.2_Silent_p.L84L|PNOC_uc011lau.1_Silent_p.L20L NM_006228 NP_006219 Q13519 PNOC_HUMAN prepronociceptin precursor 84 neuropeptide signaling pathway|sensory perception|synaptic transmission extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(1) 1 Ovarian(32;0.000953) KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245) CGGCTGCTCTCTACCAGCCGA 0.652 NaN 1 0 7.45023e-12 1 8.06909e-12 20 4 KCNU1 157855 broad.mit.edu 37 8 36697995 36697995 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:36697995G>C uc010lvw.2 + 15 1620 c.1533G>C c.(1531-1533)CAG>CAC p.Q511H KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 511 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) TGCCTAAACAGACCTGGAAGA 0.403 NaN 0 0 0 1 0 5 34 UBE2V2 7336 broad.mit.edu 37 8 48973350 48973350 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:48973350C>G uc003xqm.2 + 4 421 c.400C>G c.(400-402)CTT>GTT p.L134V NM_003350 NP_003341 Q15819 UB2V2_HUMAN ubiquitin-conjugating enzyme E2v2 134 cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair cytoplasm|nucleus|UBC13-MMS2 complex acid-amino acid ligase activity|protein binding 0 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196) AAATATGAAGCTTCCACAGCC 0.353 NaN Direct_reversal_of_damage|Rad6_pathway 0 0 0 1 0 13 79 CHD7 55636 broad.mit.edu 37 8 61654316 61654316 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:61654316C>A uc003xue.2 + 2 802 c.325C>A c.(325-327)CCC>ACC p.P109T NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 109 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCACACCCCTCCCGTTCCTCA 0.567 NaN 1 0 2.32078e-09 1 2.46887e-09 16 20 DNAJC5B 85479 broad.mit.edu 37 8 66963882 66963882 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:66963882G>C uc003xvs.1 + 3 391 c.100G>C c.(100-102)GAA>CAA p.E34Q DNAJC5B_uc003xvt.1_RNA NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 34 J. protein folding membrane heat shock protein binding|unfolded protein binding 0 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) ATCAAATGAAGAAATTAAGAA 0.393 NaN 0 0 0 1 0 13 99 CPA6 57094 broad.mit.edu 37 8 68536432 68536432 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:68536432C>T uc003xxq.3 - 2 427 c.171G>A c.(169-171)AAG>AAA p.K57K CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Silent_p.K57K NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 57 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) AGGATATTTTCTTCAGTGCAT 0.318 NaN 0 0 0 1 0 37 15 SLCO5A1 81796 broad.mit.edu 37 8 70650368 70650368 + Nonsense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:70650368C>A uc003xyl.2 - 5 2037 c.1330G>T c.(1330-1332)GAG>TAG p.E444* SLCO5A1_uc010lzb.2_Intron|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Nonsense_Mutation_p.E444*|SLCO5A1_uc010lzc.2_Intron NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 444 Helical; Name=7; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ATGGCACTCTCAGCTGTGTAT 0.423 NaN 1 0 2.48254e-18 1 2.75928e-18 51 35 TRAM1 23471 broad.mit.edu 37 8 71520314 71520314 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:71520314C>G uc003xyo.1 - 1 291 c.121G>C c.(121-123)GAG>CAG p.E41Q TRAM1_uc011lfc.1_Missense_Mutation_p.E10Q NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 41 Helical; (Potential). cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) GGGCTCACCTCAAACATGAGC 0.692 NaN 0 0 0 1 0 19 4 LACTB2 51110 broad.mit.edu 37 8 71550853 71550853 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:71550853C>G uc011lfd.1 - 6 845 c.753G>C c.(751-753)GAG>GAC p.E251D LACTB2_uc003xyp.2_Missense_Mutation_p.E251D NM_016027 NP_057111 Q53H82 LACB2_HUMAN lactamase, beta 2 251 hydrolase activity|metal ion binding ovary(1) 1 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) CATGTAAATTCTCAGGAGTAT 0.244 NaN 0 0 0 1 0 34 18 PI15 51050 broad.mit.edu 37 8 75737667 75737667 + Silent SNP C C T rs147092656 by1000genomes TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:75737667C>T uc003yal.2 + 2 362 c.183C>T c.(181-183)TAC>TAT p.Y61Y uc003yak.1_Intron|PI15_uc003yam.2_Silent_p.Y61Y NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 61 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) GGAAGCGCTACATTTCGCAGA 0.443 NaN 0 0 0 1 0 49 42 RALYL 138046 broad.mit.edu 37 8 85441685 85441685 + Silent SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:85441685A>G uc003ycq.3 + 3 545 c.129A>G c.(127-129)TCA>TCG p.S43S RALYL_uc003ycr.3_Silent_p.S43S|RALYL_uc003ycs.3_Silent_p.S43S|RALYL_uc010lzy.2_Silent_p.S43S|RALYL_uc003yct.3_Silent_p.S56S NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 43 RRM. identical protein binding|nucleotide binding|RNA binding ovary(1) 1 CCATTTTTTCAAAGTATGGAA 0.408 NaN 0 0 0 1 0 16 17 PSKH2 85481 broad.mit.edu 37 8 87076268 87076268 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:87076268G>A uc011lfy.1 - 2 778 c.778C>T c.(778-780)CTG>TTG p.L260L NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 260 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) TCAAAAGGCAGGAATCCGCTA 0.403 NaN 0 0 0 1 0 37 41 POP1 10940 broad.mit.edu 37 8 99142401 99142401 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:99142401G>C uc003yij.3 + 5 782 c.682G>C c.(682-684)GTC>CTC p.V228L POP1_uc011lgv.1_Missense_Mutation_p.V228L|POP1_uc003yik.2_Missense_Mutation_p.V228L NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 228 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GAGGCCAACAGTCAAGAGCCA 0.483 NaN 0 0 0 1 0 31 95 VPS13B 157680 broad.mit.edu 37 8 100844696 100844696 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:100844696G>C uc003yiv.2 + 52 9616 c.9505G>C c.(9505-9507)GAC>CAC p.D3169H VPS13B_uc003yiw.2_Missense_Mutation_p.D3144H NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3169 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTTGATGCCTGACATCAGTCA 0.522 NaN 0 0 0 1 0 16 30 VPS13B 157680 broad.mit.edu 37 8 100866115 100866115 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:100866115G>A uc003yiv.2 + 56 10684 c.10573G>A c.(10573-10575)GAA>AAA p.E3525K VPS13B_uc003yiw.2_Missense_Mutation_p.E3500K NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3525 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTTCAGCTTTGAATTAAAACC 0.383 NaN 0 0 0 1 0 41 178 SPAG1 6674 broad.mit.edu 37 8 101253173 101253173 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:101253173G>C uc003yjh.1 + 19 2790 c.2704G>C c.(2704-2706)GAG>CAG p.E902Q SPAG1_uc003yji.1_Missense_Mutation_p.E902Q NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 902 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) ACAGCTGTTTGAGGACCTTTC 0.333 NaN 0 0 0 1 0 10 112 UBR5 51366 broad.mit.edu 37 8 103298599 103298599 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:103298599G>C uc003ykr.1 - 38 5237 c.5204C>G c.(5203-5205)TCT>TGT p.S1735C UBR5_uc003yks.1_Missense_Mutation_p.S1735C NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1735 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGCTGGTGTAGATGTACTGGA 0.453 NaN 0 0 0 1 0 5 61 FZD6 8323 broad.mit.edu 37 8 104337017 104337017 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:104337017G>A uc003ylh.2 + 4 967 c.683G>A c.(682-684)AGA>AAA p.R228K FZD6_uc003yli.2_Missense_Mutation_p.R228K|FZD6_uc003ylj.2_Missense_Mutation_p.R228K|FZD6_uc011lhn.1_Missense_Mutation_p.R194K|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.R173K NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 228 Cytoplasmic (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) AGAAGATTCAGATACCCAGAG 0.338 NaN 0 0 0 1 0 26 57 RIMS2 9699 broad.mit.edu 37 8 104955043 104955043 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:104955043C>T uc003yls.2 + 12 2165 c.1924C>T c.(1924-1926)CAT>TAT p.H642Y RIMS2_uc003ylp.2_Missense_Mutation_p.H864Y|RIMS2_uc003ylw.2_Missense_Mutation_p.H656Y|RIMS2_uc003ylq.2_Missense_Mutation_p.H656Y|RIMS2_uc003ylr.2_Missense_Mutation_p.H703Y|RIMS2_uc003ylt.2_Missense_Mutation_p.H249Y NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 926 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGATGAGCCACATTGGTACAA 0.393 NaN HNSCC(12;0.0054) 0 0 0 1 0 11 62 ZFPM2 23414 broad.mit.edu 37 8 106815184 106815184 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:106815184C>G uc003ymd.2 + 8 2897 c.2874C>G c.(2872-2874)AAC>AAG p.N958K ZFPM2_uc011lhs.1_Missense_Mutation_p.N689K NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 958 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AAGAAGAAAACAGACATTTGT 0.428 NaN 0 0 0 1 0 7 30 TAF2 6873 broad.mit.edu 37 8 120768248 120768248 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:120768248G>A uc003you.2 - 22 3146 c.2876C>T c.(2875-2877)TCT>TTT p.S959F NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 959 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) TCTCTCACCAGAATTCATAAG 0.323 NaN 0 0 0 1 0 29 75 WDR67 93594 broad.mit.edu 37 8 124109655 124109655 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:124109655G>C uc003ypp.1 + 6 895 c.805G>C c.(805-807)GAT>CAT p.D269H WDR67_uc011lig.1_Missense_Mutation_p.D269H|WDR67_uc011lih.1_Missense_Mutation_p.D159H|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.D269H|WDR67_uc003ypr.2_RNA NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 269 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) ATTTCTTCCTGATAGTTTTGA 0.398 NaN 0 0 0 1 0 5 72 C8orf76 84933 broad.mit.edu 37 8 124243745 124243745 + Missense_Mutation SNP A A C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:124243745A>C uc003yqc.1 - 4 641 c.610T>G c.(610-612)TTC>GTC p.F204V C8orf76_uc003yqd.2_Missense_Mutation_p.F172V NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 204 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TGTGGAAAGAAGGATTTGATA 0.448 NaN 0 0 0 1 0 75 97 ZHX1 11244 broad.mit.edu 37 8 124267094 124267094 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:124267094G>C uc003yqe.2 - 3 1523 c.1093C>G c.(1093-1095)CAG>GAG p.Q365E C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Q365E|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Q365E NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 365 Required for dimerization.|Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) GTTATGGTCTGAGGTACAGTA 0.433 NaN 0 0 0 1 0 38 241 WDYHV1 55093 broad.mit.edu 37 8 124453558 124453558 + Missense_Mutation SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:124453558A>G uc003yqn.1 + 6 646 c.521A>G c.(520-522)AAC>AGC p.N174S WDYHV1_uc011lij.1_Missense_Mutation_p.N114S|WDYHV1_uc003yqo.1_RNA NM_018024 NP_060494 Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 174 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity ovary(1)|skin(1) 2 TCCAAAATGAACCTGAACGAT 0.368 NaN 0 0 0 1 0 120 47 RNF139 11236 broad.mit.edu 37 8 125487416 125487416 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:125487416C>G uc003yrc.2 + 1 409 c.66C>G c.(64-66)CTC>CTG p.L22L uc003yrb.2_5'Flank NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 22 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GGGCGGCGCTCGAAGTGGCGC 0.632 NaN Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 0 0 0 1 0 8 71 RNF139 11236 broad.mit.edu 37 8 125499414 125499414 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:125499414C>G uc003yrc.2 + 2 1867 c.1524C>G c.(1522-1524)ATC>ATG p.I508M NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 508 Helical; (Potential). negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ATTTTAACATCTACTTACAAG 0.378 NaN Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 0 0 0 1 0 20 151 ASAP1 50807 broad.mit.edu 37 8 131140337 131140337 + Splice_Site SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:131140337C>T uc003yta.1 - 15 1246 c.1218_splice c.e15-1 p.A406_splice ASAP1_uc003ysz.1_Splice_Site_p.A217_splice|ASAP1_uc011liw.1_Splice_Site_p.A399_splice NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TGATATCCATCTGTTGGTAAA 0.363 NaN 0 0 0 1 0 25 37 TG 7038 broad.mit.edu 37 8 133879281 133879281 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:133879281C>T uc003ytw.2 + 1 77 c.36C>T c.(34-36)GCC>GCT p.A12A NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 12 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCCTGCTGGCCTCCATCTGCT 0.547 NaN 0 0 0 1 0 3 8 SLA 6503 broad.mit.edu 37 8 134057253 134057253 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:134057253C>G uc003ytz.2 - 7 1292 c.460G>C c.(460-462)GAG>CAG p.E154Q TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.E171Q|SLA_uc011ljf.1_Missense_Mutation_p.E46Q|SLA_uc011ljg.1_Intron|SLA_uc011ljd.1_Missense_Mutation_p.E194Q NM_001045556 NP_001039021 Q13239 SLAP1_HUMAN Src-like-adaptor isoform a 154 SH2. endosome SH3/SH2 adaptor activity lung(1)|liver(1) 2 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) ACCAGGTCCTCCAGGCACTGG 0.517 NaN 0 0 0 1 0 8 92 TG 7038 broad.mit.edu 37 8 134108561 134108561 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:134108561C>T uc003ytw.2 + 43 7557 c.7516C>T c.(7516-7518)CTG>TTG p.L2506L TG_uc010mdw.2_Silent_p.L1265L|TG_uc011ljb.1_Silent_p.L875L|TG_uc011ljc.1_Silent_p.L639L|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2506 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGAGGTCGATCTGCTCATTGG 0.577 NaN 0 0 0 1 0 26 237 TRAPPC9 83696 broad.mit.edu 37 8 140744407 140744407 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:140744407C>T uc003yvj.2 - 22 3228 c.3094G>A c.(3094-3096)GTG>ATG p.V1032M TRAPPC9_uc003yvh.2_Missense_Mutation_p.V1130M NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 1032 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 CAGGCCGCCACAGCCTCGCGG 0.716 NaN 0 0 0 1 0 11 17 CHRAC1 54108 broad.mit.edu 37 8 141525224 141525224 + Splice_Site SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:141525224G>C uc003yvl.2 + 3 473 c.275_splice c.e3-1 p.D92_splice CHRAC1_uc010mem.1_Splice_Site NM_017444 NP_059140 Q9NRG0 CHRC1_HUMAN chromatin accessibility complex 1 chromatin remodeling chromatin accessibility complex|epsilon DNA polymerase complex DNA-directed DNA polymerase activity|sequence-specific DNA binding ovary(1) 1 all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.107) ATGTTTTTAAGATATATTACC 0.333 NaN 0 0 0 1 0 14 204 FAM83H 286077 broad.mit.edu 37 8 144810771 144810771 + Missense_Mutation SNP G G A rs137854442 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:144810771G>A uc003yzk.2 - 5 929 c.860C>T c.(859-861)TCG>TTG p.S287L FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 287 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGCCGCGGCCGAGGGCACAAG 0.711 NaN 0 0 0 1 0 6 12 FAM83H 286077 broad.mit.edu 37 8 144812730 144812730 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:144812730G>A uc003yzk.2 - 2 92 c.23C>T c.(22-24)TCC>TTC p.S8F FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 8 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCCCTGCGAGGAGCTCTGAGA 0.677 NaN 0 0 0 1 0 8 24 EPPK1 83481 broad.mit.edu 37 8 144942543 144942543 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:144942543C>T uc003zaa.1 - 1 4892 c.4879G>A c.(4879-4881)GAG>AAG p.E1627K NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1627 Plectin 27. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TTGAACGCCTCCTCCACGGTC 0.637 NaN 0 0 0 1 0 22 65 PARP10 84875 broad.mit.edu 37 8 145059158 145059158 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:145059158C>G uc003zal.3 - 5 1120 c.1012G>C c.(1012-1014)GGT>CGT p.G338R PARP10_uc003zak.3_Missense_Mutation_p.G44R|PARP10_uc011lku.1_Missense_Mutation_p.G350R|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.G338R|PARP10_uc010mfn.1_Missense_Mutation_p.G253R|PARP10_uc010mfo.1_3'UTR NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 338 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCATGGGACCTGTCCTCAGA 0.612 NaN 0 0 0 1 0 65 68 GPAA1 8733 broad.mit.edu 37 8 145140309 145140309 + Nonsense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:145140309G>T uc003zax.2 + 10 1488 c.1378G>T c.(1378-1380)GAG>TAG p.E460* NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 460 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCAGTGGCAGAGGCTGAGGC 0.632 NaN 1 0 0.00909568 1 0.00914966 4 35 GPAA1 8733 broad.mit.edu 37 8 145140621 145140621 + Missense_Mutation SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:145140621G>T uc003zax.2 + 11 1707 c.1597G>T c.(1597-1599)GCG>TCG p.A533S NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 533 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCCACTGCTGCGCTTGCCAA 0.612 NaN 1 0 2.80697e-09 1 2.97985e-09 10 122 ZNF7 7553 broad.mit.edu 37 8 146067042 146067042 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:146067042C>G uc003zeg.3 + 5 687 c.550C>G c.(550-552)CTT>GTT p.L184V ZNF7_uc010mge.2_Missense_Mutation_p.L195V|ZNF7_uc011lln.1_Missense_Mutation_p.L88V|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.L88V|COMMD5_uc003zel.1_RNA NM_003416 NP_003407 P17097 ZNF7_HUMAN zinc finger protein 7 184 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) TTGTCAGCCTCTTGAAAGTCA 0.537 NaN 0 0 0 1 0 13 85 MLANA 2315 broad.mit.edu 37 9 5908664 5908664 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:5908664G>C uc003zjo.1 + 5 366 c.313G>C c.(313-315)GAG>CAG p.E105Q NM_005511 NP_005502 Q16655 MAR1_HUMAN melan-A 105 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network protein binding 0 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103) ACCTGCTTATGAGAAACTCTC 0.433 NaN 0 0 0 1 0 26 28 KIAA2026 158358 broad.mit.edu 37 9 5954074 5954074 + Missense_Mutation SNP T T G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:5954074T>G uc003zjq.3 - 4 2450 c.2234A>C c.(2233-2235)AAA>ACA p.K745T KIAA2026_uc010mht.2_5'UTR NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 745 Lys-rich. ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TGTGATTGCTTTTTTAGAGAC 0.308 NaN 0 0 0 1 0 2 1 PSIP1 11168 broad.mit.edu 37 9 15490123 15490123 + Splice_Site SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:15490123C>A uc003zlv.3 - 4 480 c.150_splice c.e4-1 p.T50_splice PSIP1_uc003zlw.3_Splice_Site_p.T50_splice|PSIP1_uc003zlz.3_Splice_Site_p.T50_splice|PSIP1_uc003zma.3_Splice_Site_p.T50_splice|PSIP1_uc003zly.2_Splice_Site_p.T50_splice NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) TAAAAAAGCACTAAAAAAGAA 0.313 NaN 1 0 1.15088e-07 1 1.21289e-07 14 1 CDKN2A 1029 broad.mit.edu 37 9 21974736 21974736 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:21974736G>C uc003zpk.2 - 1 303 c.91C>G c.(91-93)CTG>GTG p.L31V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.L31V|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 31 ANK 1. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(23)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28_V51del(1)|p.R29fs*9(1)|p.L31P(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCCTCCAGCAGCGCCCGCACC 0.736 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 0 0 0 1 0 10 19 TAF1L 138474 broad.mit.edu 37 9 32630951 32630951 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:32630951C>G uc003zrg.1 - 1 4717 c.4627G>C c.(4627-4629)GAT>CAT p.D1543H uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1543 Bromo 2. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGCCAAGAATCTGGAACTGCC 0.388 NaN 0 0 0 1 0 8 49 PRSS3 5646 broad.mit.edu 37 9 33797839 33797839 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:33797839G>A uc003ztj.3 + 3 384 c.384G>A c.(382-384)GTG>GTA p.V128V uc003ztk.1_Intron|PRSS3_uc003zti.3_Silent_p.V85V|PRSS3_uc003ztl.3_Silent_p.V71V NM_007343 NP_031369 P35030 TRY3_HUMAN mesotrypsin isoform 1 preproprotein 128 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity 0 LUSC - Lung squamous cell carcinoma(29;0.0176) GCATCCAGGTGAGACTGGGAG 0.587 NaN 0 0 0 1 0 4 48 TLN1 7094 broad.mit.edu 37 9 35698825 35698825 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:35698825C>G uc003zxt.2 - 53 7459 c.7105G>C c.(7105-7107)GAA>CAA p.E2369Q NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 2369 I/LWEQ. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCCACTAGTTCTCTCTGGGCA 0.522 NaN 0 0 0 1 0 15 30 SMC5 23137 broad.mit.edu 37 9 72892386 72892386 + Nonsense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:72892386C>T uc004ahr.2 + 4 658 c.541C>T c.(541-543)CAG>TAG p.Q181* NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 181 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 GTTTCTCCCTCAGGTATGAGA 0.338 NaN 0 0 0 1 0 16 19 FAM108B1 51104 broad.mit.edu 37 9 74489886 74489886 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:74489886C>T uc004aim.1 - 2 713 c.111G>A c.(109-111)CTG>CTA p.L37L FAM108B1_uc004ail.2_Silent_p.L37L NM_001025780 NP_001020951 Q5VST6 F108B_HUMAN family with sequence similarity 108, member B1 37 extracellular region hydrolase activity 0 CATCACACATCAGTGTGTAAG 0.428 NaN 0 0 0 1 0 7 74 ROR2 4920 broad.mit.edu 37 9 94487117 94487117 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:94487117G>A uc004arj.1 - 9 1858 c.1659C>T c.(1657-1659)TTC>TTT p.F553F ROR2_uc004ari.1_Silent_p.F413F NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 553 Cytoplasmic (Potential).|Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 AACAGTAGCTGAAGATCATGC 0.637 NaN 0 0 0 1 0 31 4 TEX10 54881 broad.mit.edu 37 9 103090142 103090142 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:103090142G>T uc004bas.2 - 8 1943 c.1728C>A c.(1726-1728)ATC>ATA p.I576I TEX10_uc011lvf.1_Silent_p.I415I|TEX10_uc011lvg.1_Silent_p.I579I NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 576 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) CGGTATGAATGATATCGATAA 0.418 NaN 1 0 3.01185e-09 1 3.194e-09 26 8 OR13C3 138803 broad.mit.edu 37 9 107298330 107298330 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:107298330G>C uc004bcb.1 - 1 765 c.765C>G c.(763-765)ATC>ATG p.I255M NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, 255 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 TCATTTGCAAGATGGTGTAGA 0.413 NaN 0 0 0 1 0 57 9 OR13C3 138803 broad.mit.edu 37 9 107298688 107298688 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:107298688G>A uc004bcb.1 - 1 407 c.407C>T c.(406-408)GCA>GTA p.A136V NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, 136 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 TGACCCCATTGCAAACCCAAA 0.453 NaN 0 0 0 1 0 53 87 C9orf152 401546 broad.mit.edu 37 9 112963584 112963584 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:112963584C>G uc011lwk.1 - 2 918 c.364G>C c.(364-366)GAG>CAG p.E122Q NM_001012993 NP_001013011 Q5JTZ5 CI152_HUMAN hypothetical protein LOC401546 122 0 CAATGCATCTCCAGGTGCGTG 0.587 NaN 0 0 0 1 0 48 47 C9orf84 158401 broad.mit.edu 37 9 114510461 114510461 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:114510461C>T uc004bfr.2 - 7 824 c.689G>A c.(688-690)GGA>GAA p.G230E C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.G294E|C9orf84_uc004bfq.2_Missense_Mutation_p.G191E|C9orf84_uc010mug.2_Missense_Mutation_p.G176E NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 230 ovary(2) 2 ATCCTCAATTCCATGCTTGTT 0.353 NaN 0 0 0 1 0 19 36 ODF2 4957 broad.mit.edu 37 9 131256844 131256844 + Missense_Mutation SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:131256844T>A uc011mbd.1 + 17 2119 c.1808T>A c.(1807-1809)CTG>CAG p.L603Q ODF2_uc011maz.1_Missense_Mutation_p.L603Q|ODF2_uc011mbc.1_Missense_Mutation_p.L522Q|ODF2_uc004bva.2_Missense_Mutation_p.L556Q|ODF2_uc004bvb.2_Missense_Mutation_p.L579Q|ODF2_uc011mbe.1_Missense_Mutation_p.L598Q|ODF2_uc004bvc.2_Missense_Mutation_p.L579Q|ODF2_uc011mbf.1_Missense_Mutation_p.L584Q|ODF2_uc004bvd.3_Missense_Mutation_p.L603Q|ODF2_uc004bve.2_Missense_Mutation_p.L584Q|ODF2_uc004bvh.2_5'Flank NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 603 Potential. cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 CCTGACATCCTGAAGATCACG 0.562 NaN 0 0 0 1 0 10 21 SPTAN1 6709 broad.mit.edu 37 9 131341958 131341958 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:131341958G>A uc004bvl.3 + 10 1377 c.1264G>A c.(1264-1266)GAA>AAA p.E422K SPTAN1_uc011mbg.1_Missense_Mutation_p.E422K|SPTAN1_uc011mbh.1_Missense_Mutation_p.E434K|SPTAN1_uc004bvm.3_Missense_Mutation_p.E422K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E422K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 422 Spectrin 5. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ATCTGCAGATGAATCTGGACA 0.428 NaN 0 0 0 1 0 34 2 FCN1 2219 broad.mit.edu 37 9 137803022 137803022 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:137803022C>G uc004cfi.2 - 8 782 c.690G>C c.(688-690)GAG>GAC p.E230D NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 230 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GCTTGTACTTCTCTGCCTCGT 0.552 NaN 0 0 0 1 0 72 173 KIAA0649 9858 broad.mit.edu 37 9 138378236 138378236 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:138378236G>A uc004cfr.1 + 4 2429 c.1880G>A c.(1879-1881)AGA>AAA p.R627K NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 627 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) AGCCAGGGGAGAGCTGAGCCC 0.662 NaN 0 0 0 1 0 4 41 SNAPC4 6621 broad.mit.edu 37 9 139273711 139273711 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:139273711C>G uc004chh.2 - 21 2577 c.2568G>C c.(2566-2568)AAG>AAC p.K856N NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 856 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GGCTGGCACTCTTTGAGGCTT 0.662 NaN 0 0 0 1 0 14 4 NOTCH1 4851 broad.mit.edu 37 9 139405623 139405623 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:139405623G>C uc004chz.2 - 16 2568 c.2568C>G c.(2566-2568)GTC>GTG p.V856V NOTCH1_uc004cia.1_Silent_p.V86V NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 856 Extracellular (Potential).|EGF-like 22. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCGTGGGGCAGACACAGGAGA 0.677 NaN T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 0 0 0 1 0 17 69 COBRA1 25920 broad.mit.edu 37 9 140166654 140166654 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:140166654C>T uc004cmm.3 + 11 1670 c.1467C>T c.(1465-1467)TTC>TTT p.F489F NM_015456 NP_056271 Q8WX92 NELFB_HUMAN cofactor of BRCA1 489 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) TCGATGGCTTCTTCCTCACCG 0.617 NaN 0 0 0 1 0 58 26 EHMT1 79813 broad.mit.edu 37 9 140657159 140657159 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr9:140657159G>C uc011mfc.1 + 10 1571 c.1534G>C c.(1534-1536)GAC>CAC p.D512H EHMT1_uc004coa.2_Missense_Mutation_p.D512H|EHMT1_uc004cob.1_Missense_Mutation_p.D481H|FLJ40292_uc010nco.2_5'Flank NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 512 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GCTGGAGACAGACGGCCTCCA 0.537 NaN 0 0 0 1 0 6 31 MXRA5 25878 broad.mit.edu 37 X 3229461 3229461 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:3229461C>T uc004crg.3 - 7 6940 c.6783G>A c.(6781-6783)CTG>CTA p.L2261L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2261 Ig-like C2-type 7. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGTCCACTTTCAGGTCACCCC 0.557 NaN 0 0 0 1 0 35 35 ARHGAP6 395 broad.mit.edu 37 X 11197423 11197423 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:11197423G>A uc004cup.1 - 7 2352 c.1479C>T c.(1477-1479)CTC>CTT p.L493L ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.L493L|ARHGAP6_uc004cum.1_Silent_p.L290L|ARHGAP6_uc004cun.1_Silent_p.L313L|ARHGAP6_uc010neb.1_Silent_p.L315L|ARHGAP6_uc011mif.1_Silent_p.L290L NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 493 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 ATTACGCACAGAGAGTGTTGA 0.453 NaN 0 0 0 1 0 54 4 DDX3X 1654 broad.mit.edu 37 X 41203072 41203072 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:41203072G>A uc004dfe.2 + 8 1617 c.762G>A c.(760-762)ATG>ATA p.M254I DDX3X_uc010nhf.1_Missense_Mutation_p.M238I|DDX3X_uc004dff.2_Missense_Mutation_p.M254I|DDX3X_uc011mkq.1_Missense_Mutation_p.M238I|DDX3X_uc011mkr.1_Missense_Mutation_p.M254I|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 254 Helicase ATP-binding. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TGAGGGCCATGAAGGTAGATG 0.398 NaN HNSCC(61;0.18) 0 0 0 1 0 20 20 WDR45 11152 broad.mit.edu 37 X 48932868 48932868 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:48932868G>A uc004dmk.1 - 10 1072 c.900C>T c.(898-900)TTC>TTT p.F300F PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Silent_p.F261F|WDR45_uc004dml.1_Silent_p.F301F|WDR45_uc004dmm.1_Silent_p.F265F|WDR45_uc010nim.1_Intron|WDR45_uc004dmn.1_Silent_p.F191F|WDR45_uc004dmo.1_Silent_p.F323F|WDR45_uc004dmp.1_Silent_p.F301F NM_001029896 NP_001025067 Q9Y484 WIPI4_HUMAN WD repeat domain 45 isoform 2 300 FTV -> YTA (in Ref. 1; AAV80764). autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 CAGGCACAGTGAAGCTCGCCA 0.597 NaN 0 0 0 1 0 6 12 CCDC22 28952 broad.mit.edu 37 X 49106025 49106025 + Missense_Mutation SNP A A T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:49106025A>T uc004dnd.1 + 15 1847 c.1691A>T c.(1690-1692)CAC>CTC p.H564L CCDC22_uc004dnc.1_RNA NM_014008 NP_054727 O60826 CCD22_HUMAN coiled-coil domain containing 22 564 central_nervous_system(1) 1 GCTGCTCTGCACGAGGTGAGG 0.597 NaN 0 0 0 1 0 10 11 CCNB3 85417 broad.mit.edu 37 X 50053381 50053381 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:50053381G>A uc004dox.3 + 6 2510 c.2212G>A c.(2212-2214)GAG>AAG p.E738K CCNB3_uc004doy.2_Missense_Mutation_p.E738K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 738 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) GCTTTCTGCTGAGGCAGCCAC 0.428 NaN 0 0 0 1 0 29 1 SHROOM4 57477 broad.mit.edu 37 X 50377284 50377284 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:50377284G>A uc004dpe.2 - 4 1815 c.1789C>T c.(1789-1791)CAG>TAG p.Q597* SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Nonsense_Mutation_p.Q481* NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 597 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) TTCCTCCTCTGAATTTCATTA 0.582 NaN 0 0 0 1 0 27 1 SHROOM4 57477 broad.mit.edu 37 X 50377642 50377642 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:50377642G>A uc004dpe.2 - 4 1457 c.1431C>T c.(1429-1431)ACC>ACT p.T477T SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.T361T NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 477 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) CCACTTGTCTGGTCTTTCTTT 0.527 NaN 0 0 0 1 0 73 7 HUWE1 10075 broad.mit.edu 37 X 53575134 53575134 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:53575134G>A uc004dsp.2 - 68 10538 c.10136C>T c.(10135-10137)TCC>TTC p.S3379F HUWE1_uc004dsn.2_Missense_Mutation_p.S2187F NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3379 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 ACTGCTGGAGGACTGTGAGGA 0.507 NaN 0 0 0 1 0 5 3 MAGEE1 57692 broad.mit.edu 37 X 75649791 75649791 + Missense_Mutation SNP C C A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:75649791C>A uc004ecm.1 + 1 1675 c.1468C>A c.(1468-1470)CCT>ACT p.P490T NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 490 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GCCCCAAGACCCTATGGAACA 0.483 NaN 1 0 2.17888e-05 1 2.24966e-05 9 26 RPS6KA6 27330 broad.mit.edu 37 X 83375020 83375020 + Missense_Mutation SNP T T C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:83375020T>C uc004eej.1 - 9 739 c.662A>G c.(661-663)AAG>AGG p.K221R RPS6KA6_uc011mqt.1_Missense_Mutation_p.K221R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.K118R|RPS6KA6_uc010nmo.1_RNA NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 221 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 TACTGACTCCTTGCTGAGTCC 0.343 NaN 0 0 0 1 0 50 10 MID2 11043 broad.mit.edu 37 X 107084381 107084381 + Nonsense_Mutation SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:107084381T>A uc004enl.2 + 2 1059 c.486T>A c.(484-486)TGT>TGA p.C162* MID2_uc004enk.2_Nonsense_Mutation_p.C162* NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 162 B box-type 1; degenerate. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 TCTCCTACTGTGACCGTTGCC 0.572 NaN 0 0 0 1 0 7 23 AMOT 154796 broad.mit.edu 37 X 112033888 112033888 + Silent SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:112033888C>T uc004epr.2 - 7 2049 c.2049G>A c.(2047-2049)CAG>CAA p.Q683Q AMOT_uc004eps.2_Silent_p.Q274Q NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 683 Potential. actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 CCAAATATTTCTGCTCCCACT 0.493 NaN 0 0 0 1 0 34 103 ODZ1 10178 broad.mit.edu 37 X 123518337 123518337 + Silent SNP T T A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:123518337T>A uc004euj.2 - 29 6487 c.6423A>T c.(6421-6423)GGA>GGT p.G2141G ODZ1_uc011muj.1_Silent_p.G2147G|ODZ1_uc010nqy.2_Silent_p.G2148G NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2141 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TGGCATCTACTCCTACCCTTA 0.398 NaN 0 0 0 1 0 38 153 ODZ1 10178 broad.mit.edu 37 X 123680941 123680941 + Splice_Site SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:123680941C>G uc004euj.2 - 15 2499 c.2435_splice c.e15-1 p.D812_splice ODZ1_uc011muj.1_Splice_Site_p.D811_splice|ODZ1_uc010nqy.2_Splice_Site_p.D812_splice NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GTTAAACCATCTGGAAATAAA 0.348 NaN 0 0 0 1 0 37 3 BCORL1 63035 broad.mit.edu 37 X 129149535 129149535 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:129149535G>A uc004evb.1 + 4 2901 c.2787G>A c.(2785-2787)CAG>CAA p.Q929Q BCORL1_uc010nrd.1_Silent_p.Q831Q NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 929 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TCAGCCCTCAGACTGGGACCC 0.537 NaN 0 0 0 1 0 13 34 GPR119 139760 broad.mit.edu 37 X 129519381 129519381 + Missense_Mutation SNP A A C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:129519381A>C uc011muv.1 - 1 41 c.41T>G c.(40-42)CTG>CGG p.L14R NM_178471 NP_848566 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 14 Helical; Name=1; (Potential). integral to membrane|plasma membrane lipid binding ovary(2) 2 GAGGGAGGCCAGGACAGCAAG 0.483 NaN 0 0 0 1 0 68 136 DKC1 1736 broad.mit.edu 37 X 153995277 153995277 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:153995277G>C uc004fmm.2 + 6 664 c.454G>C c.(454-456)GAG>CAG p.E152Q DKC1_uc010nvf.2_Missense_Mutation_p.E152Q|SNORA36A_uc004fmn.2_5'Flank NM_001363 NP_001354 O60832 DKC1_HUMAN dyskerin isoform 1 152 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity 0 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTCAGGCAAAGAGTATGTGGG 0.463 NaN Congenital_Dyskeratosis 0 0 0 1 0 10 49 MUC5B 727897 broad.mit.edu 37 11 1278842 1278866 + Frame_Shift_Del DEL GTGACGCCCAGGGTCAGCCCCCGCC GTGACGCCCAGGGTCAGCCCCCGCC - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr11:1278842_1278866delGTGACGCCCAGGGTCAGCCCCCGCC uc009ycr.1 + 63 17489_17513 c.17363_17387delGTGACGCCCAGGGTCAGCCCCCGCC c.(17362-17388)TGTGACGCCCAGGGTCAGCCCCCGCCGfs p.C5788fs MUC5B_uc001ltb.2_Frame_Shift_Del_p.C5454fs NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5451_5459 VWFC 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCCTGCCCTGTGACGCCCAGGGTCAGCCCCCGCCGTGCAACCGT 0.684 NaN NaN NaN NaN NaN NaN 7 9 --- --- AKAP6 9472 broad.mit.edu 37 14 33004894 33004908 + In_Frame_Del DEL GCTTCGAGTCTCAGT GCTTCGAGTCTCAGT - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr14:33004894_33004908delGCTTCGAGTCTCAGT uc001wrq.2 + 3 629_643 c.459_473delGCTTCGAGTCTCAGT c.(457-474)CAGCTTCGAGTCTCAGTG>CAG p.LRVSV154del AKAP6_uc010aml.2_In_Frame_Del_p.LRVSV151del NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 154_158 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCTGGCACCAGCTTCGAGTCTCAGTGCTGGTTCTG 0.521 NaN NaN NaN NaN NaN NaN 18 40 --- --- DMXL2 23312 broad.mit.edu 37 15 51778370 51778370 + Frame_Shift_Del DEL A A - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr15:51778370delA uc002abf.2 - 23 5607 c.5382delT c.(5380-5382)GATfs p.D1794fs DMXL2_uc010ufy.1_Frame_Shift_Del_p.D1794fs|DMXL2_uc010bfa.2_Frame_Shift_Del_p.D1158fs NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1794 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) GCAGGAAAGGATCAGGATGTA 0.408 NaN NaN NaN NaN NaN NaN 25 38 --- --- TRIM16 10626 broad.mit.edu 37 17 15501958 15501975 + Splice_Site DEL ATCCCAGTATCTGCAGGA ATCCCAGTATCTGCAGGA - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:15501958_15501975delATCCCAGTATCTGCAGGA uc002gor.1 - 14 2701 c.2364_splice c.e14-1 p.R788_splice CDRT1_uc010vvy.1_5'UTR|CDRT1_uc010vvz.1_5'UTR|CDRT1_uc002gov.3_Splice_Site_p.R478_splice|CDRT1_uc002gou.2_Splice_Site_p.R86_splice|CDRT1_uc010cos.1_5'UTR O95361 TRI16_HUMAN SubName: Full=Putative uncharacterized protein; Flags: Fragment; histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid cytoplasm|plasma membrane|PML body DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding ovary(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) CACTTTTCAGATCCCAGTATCTGCAGGAATCAGGCCAA 0.472 NaN NaN NaN NaN NaN NaN 7 13 --- --- NF1 4763 broad.mit.edu 37 17 29592283 29592283 + Frame_Shift_Del DEL G G - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 G - G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:29592283delG uc002hgg.2 + 36 5094 c.4761delG c.(4759-4761)TTGfs p.L1587fs NF1_uc002hgh.2_Frame_Shift_Del_p.L1566fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L599fs|NF1_uc010cso.2_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1587 CRAL-TRIO. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(3)|p.L1587*(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCAAGGCTTTGAAAACGTTAA 0.343 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) NaN NaN NaN NaN NaN 19 105 --- --- CDK12 51755 broad.mit.edu 37 17 37618605 37618605 + Frame_Shift_Del DEL G G - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:37618605delG uc010cvv.2 + 1 867 c.281delG c.(280-282)AGGfs p.R94fs CDK12_uc010wef.1_Frame_Shift_Del_p.R94fs|CDK12_uc002hrw.3_Frame_Shift_Del_p.R94fs NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 94 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 CTAGACCGAAGGGAGAACGAC 0.522 NaN TCGA Ovarian(9;0.13) NaN NaN NaN NaN NaN 10 53 --- --- CNP 1267 broad.mit.edu 37 17 40123969 40123969 + Frame_Shift_Del DEL C C - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr17:40123969delC uc002hyl.1 + 3 880 c.736delC c.(736-738)CCCfs p.P246fs CNP_uc010wfz.1_Frame_Shift_Del_p.P123fs|CNP_uc002hym.1_Frame_Shift_Del_p.P226fs|CNP_uc010wga.1_Frame_Shift_Del_p.P11fs|CNP_uc002hyn.1_Frame_Shift_Del_p.P11fs NM_033133 NP_149124 P09543 CN37_HUMAN 2',3'-cyclic nucleotide 3' phosphodiesterase 246 cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission extracellular space|melanosome 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding 0 all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143) UCEC - Uterine corpus endometrioid carcinoma (308;0.171) TGGAAAGAGACCCCCAGGCGT 0.592 NaN NaN NaN NaN NaN NaN 16 36 --- --- CDH4 1002 broad.mit.edu 37 20 60485588 60485606 + Frame_Shift_Del DEL CAGTGGGGATCCATCCGGG CAGTGGGGATCCATCCGGG - rs35293044 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr20:60485588_60485606delCAGTGGGGATCCATCCGGG uc002ybn.1 + 9 1313_1331 c.1299_1317delCAGTGGGGATCCATCCGGG c.(1297-1317)ATCAGTGGGGATCCATCCGGGfs p.I433fs CDH4_uc002ybp.1_Frame_Shift_Del_p.I359fs NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 433_439 Cadherin 3.|Extracellular (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) ACCGCATCATCAGTGGGGATCCATCCGGGCACTTCAGCG 0.603 NaN NaN NaN NaN NaN NaN 7 73 --- --- RFPL2 10739 broad.mit.edu 37 22 32590428 32590434 + Frame_Shift_Del DEL TCCCACC TCCCACC - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr22:32590428_32590434delTCCCACC uc003amg.3 - 3 1099_1105 c.163_169delGGTGGGA c.(163-171)GGTGGGAATfs p.G55fs RFPL2_uc003ame.3_5'Flank|RFPL2_uc003amf.3_Intron|RFPL2_uc003amh.3_Intron NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 55_57 zinc ion binding skin(1) 1 TTGGTGAGATTCCCACCTCCCACTGGG 0.507 NaN NaN NaN NaN NaN NaN 2 4 --- --- SH3BP5 9467 broad.mit.edu 37 3 15373833 15373835 + In_Frame_Del DEL TCC TCC - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr3:15373833_15373835delTCC uc003bzp.1 - 1 270_272 c.81_83delGGA c.(79-84)GAGGAA>GAA p.27_28EE>E SH3BP5_uc010hem.1_RNA|SH3BP5_uc003bzq.1_Intron|SH3BP5_uc003bzr.1_Intron NM_004844 NP_004835 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 27_28 Glu-rich. intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding 0 catcccctcttcctcctcctcct 0.522 NaN NaN NaN NaN NaN NaN 2 4 --- --- RFPL4B 442247 broad.mit.edu 37 6 112671551 112671561 + Frame_Shift_Del DEL ACTTAGAAGAA ACTTAGAAGAA - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr6:112671551_112671561delACTTAGAAGAA uc003pvx.1 + 3 953_963 c.641_651delACTTAGAAGAA c.(640-651)GACTTAGAAGAAfs p.D214fs NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 214_217 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) CTGGATGCTGACTTAGAAGAAATCCAGTTTT 0.455 NaN NaN NaN NaN NaN NaN 9 32 --- --- CDK5 1020 broad.mit.edu 37 7 150751123 150751134 + In_Frame_Del DEL GGGGTGCTGCAG GGGGTGCTGCAG - rs11541602 TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr7:150751123_150751134delGGGGTGCTGCAG uc003wir.1 - 12 902_913 c.841_852delCTGCAGCACCCC c.(841-852)CTGCAGCACCCCdel p.LQHP281del NM_004935 NP_004926 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 isoform 1 281_284 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity lung(1)|central_nervous_system(1) 2 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) CGGAGAAGTAGGGGTGCTGCAGGGCCTCTTCT 0.623 NaN NaN NaN NaN NaN NaN 5 8 --- --- C8orf34 116328 broad.mit.edu 37 8 69358655 69358656 + Frame_Shift_Del DEL TG TG - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:69358655_69358656delTG uc010lyz.2 + 3 358_359 c.309_310delTG c.(307-312)GCTGTGfs p.A103fs C8orf34_uc010lyx.1_Frame_Shift_Del_p.A103fs|C8orf34_uc010lyy.1_Frame_Shift_Del_p.A103fs|C8orf34_uc003xyb.2_Frame_Shift_Del_p.A78fs NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 103_104 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) GTGACCTTGCTGTGTCTAATAT 0.337 NaN NaN NaN NaN NaN NaN 13 59 --- --- YWHAZ 7534 broad.mit.edu 37 8 101936227 101936245 + Frame_Shift_Del DEL TGTATGACTCTTCACTTAA TGTATGACTCTTCACTTAA - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:101936227_101936245delTGTATGACTCTTCACTTAA uc011lhe.1 - 5 793_811 c.616_634delTTAAGTGAAGAGTCATACA c.(616-636)TTAAGTGAAGAGTCATACAAAfs p.L206fs YWHAZ_uc003yjv.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc011lhf.1_Frame_Shift_Del_p.L206fs|YWHAZ_uc003yjw.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc010mbq.2_Frame_Shift_Del_p.L129fs|YWHAZ_uc011lhg.1_Frame_Shift_Del_p.L86fs|YWHAZ_uc010mbr.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc003yjx.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc003yjy.2_Frame_Shift_Del_p.L206fs NM_001135702 NP_001129174 P63104 1433Z_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 206_212 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding 0 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) GTGCTGTCTTTGTATGACTCTTCACTTAATGTATCAAGT 0.333 NaN NaN NaN NaN NaN NaN 16 155 --- --- MTBP 27085 broad.mit.edu 37 8 121483136 121483144 + In_Frame_Del DEL AATGGAAGG AATGGAAGG - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chr8:121483136_121483144delAATGGAAGG uc003ypc.1 + 11 1169_1177 c.1124_1132delAATGGAAGG c.(1123-1134)AAATGGAAGGAA>AAA p.WKE376del MTBP_uc011lie.1_RNA NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 376_378 cell cycle arrest skin(2)|ovary(1) 3 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) AGTTCAAGAAAATGGAAGGAATATATAGC 0.33 NaN NaN NaN NaN NaN NaN 9 125 --- --- KLHL34 257240 broad.mit.edu 37 X 21674920 21674922 + In_Frame_Del DEL CTC CTC - TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03337bf0-498e-440a-8159-42a376fa73aa 9ac3221e-f850-465c-953b-2f735aa8d368 g.chrX:21674920_21674922delCTC uc004czz.1 - 1 1527_1529 c.985_987delGAG c.(985-987)GAGdel p.E329del NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 329 Kelch 1.|Glu-rich. ovary(1) 1 TGAGCTCCCActcctcctcctcc 0.527 NaN NaN NaN NaN NaN NaN 2 4 --- ---