Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values CPSF3L 54973 broad.mit.edu 37 1 1249291 1249291 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:1249291T>C uc001aee.1 - 9 836 c.778A>G c.(778-780)AAC>GAC p.N260D CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.N266D|CPSF3L_uc009vjz.1_Missense_Mutation_p.N238D|CPSF3L_uc010nyj.1_Missense_Mutation_p.N231D|CPSF3L_uc001aeg.1_Missense_Mutation_p.N136D|CPSF3L_uc001aeh.1_Missense_Mutation_p.N159D|CPSF3L_uc001aei.1_Missense_Mutation_p.N162D|CPSF3L_uc001aej.1_Missense_Mutation_p.N87D|CPSF3L_uc001aek.1_Missense_Mutation_p.N2D NM_017871 NP_060341 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 260 Golgi apparatus|nucleus hydrolase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) ACCTTCAGGTTCATGCGCTCC 0.622 MXRA8 54587 broad.mit.edu 37 1 1290349 1290349 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:1290349C>T uc001aew.2 - 5 693 c.662G>A c.(661-663)CGC>CAC p.R221H MXRA8_uc001aex.3_Missense_Mutation_p.R221H|MXRA8_uc001aey.3_Missense_Mutation_p.R221H|MXRA8_uc010nyl.1_Missense_Mutation_p.R221H|MXRA8_uc001aez.2_Missense_Mutation_p.R120H|MXRA8_uc001afa.2_Missense_Mutation_p.R212H NM_032348 NP_115724 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 precursor 221 Ig-like V-type 2.|Extracellular (Potential). integral to membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GTCCAGCAGGCGGTCCGCGCG 0.736 MORN1 79906 broad.mit.edu 37 1 2317268 2317268 + Missense_Mutation SNP C C T rs147757432 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:2317268C>T uc001ajb.1 - 5 448 c.427G>A c.(427-429)GGC>AGC p.G143S MORN1_uc009vld.2_Missense_Mutation_p.G119S|MORN1_uc001ajd.1_Missense_Mutation_p.G143S|MORN1_uc010nyy.1_Silent_p.T85T NM_024848 NP_079124 Q5T089 MORN1_HUMAN MORN repeat containing 1 143 MORN 5. ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) TGCCCAGGGCCGTGCCTCTTG 0.582 MMEL1 79258 broad.mit.edu 37 1 2528129 2528129 + Splice_Site SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:2528129C>A uc001ajy.2 - 14 1487 c.1273_splice c.e14-1 p.A425_splice MMEL1_uc009vlg.1_Splice_Site NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 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) CAAACAGCGCCTGGTGGGGCC 0.657 LRRC47 57470 broad.mit.edu 37 1 3703754 3703754 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:3703754C>T uc001akx.1 - 2 764 c.736G>A c.(736-738)GTC>ATC p.V246I NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 246 LRR 7. translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CAGCCGCTGACCATCTTCTCC 0.602 LRRC47 57470 broad.mit.edu 37 1 3703780 3703780 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:3703780A>G uc001akx.1 - 2 738 c.710T>C c.(709-711)CTG>CCG p.L237P NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 237 LRR 7. translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CTTGTCCCTCAGCTTGTTCCC 0.612 CHD5 26038 broad.mit.edu 37 1 6208971 6208971 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:6208971G>A uc001amb.1 - 9 1426 c.1326C>T c.(1324-1326)TGC>TGT p.C442C CHD5_uc001amc.1_5'Flank NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 442 PHD-type 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCGGGTTGAGGCAATGCAGGT 0.502 PLEKHG5 57449 broad.mit.edu 37 1 6534577 6534577 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:6534577A>T uc001ano.1 - 7 642 c.541T>A c.(541-543)TCC>ACC p.S181T PLEKHG5_uc001ann.1_Missense_Mutation_p.S162T|PLEKHG5_uc001anq.1_Missense_Mutation_p.S202T|PLEKHG5_uc001anp.1_Missense_Mutation_p.S202T|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.S194T|PLEKHG5_uc001ank.1_Missense_Mutation_p.S125T|PLEKHG5_uc009vmb.1_Missense_Mutation_p.S125T|PLEKHG5_uc001anl.1_Missense_Mutation_p.S125T|PLEKHG5_uc001anm.1_Missense_Mutation_p.S125T NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 181 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GGTGTGTTGGACTGGTCCAGG 0.592 SLC45A1 50651 broad.mit.edu 37 1 8384496 8384496 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:8384496C>T uc001apb.2 + 1 107 c.107C>T c.(106-108)ACA>ATA p.T36I NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 36 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GGGTCCGTGACACGACACCTC 0.682 RERE 473 broad.mit.edu 37 1 8420006 8420006 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:8420006G>A uc001ape.2 - 20 4246 c.3436C>T c.(3436-3438)CGG>TGG p.R1146W RERE_uc001apf.2_Missense_Mutation_p.R1146W|RERE_uc001apd.2_Missense_Mutation_p.R592W NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1146 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AGGTCTGTCCGGGCACACGAG 0.622 TARDBP 23435 broad.mit.edu 37 1 11082567 11082567 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:11082567C>T uc001art.2 + 6 1235 c.1101C>T c.(1099-1101)TTC>TTT p.F367F TARDBP_uc010oap.1_Silent_p.F251F NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 367 Gly-rich. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) ACCAGGCCTTCGGTTCTGGAA 0.517 MTOR 2475 broad.mit.edu 37 1 11307756 11307756 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:11307756T>C uc001asd.2 - 8 1272 c.1151A>G c.(1150-1152)AAG>AGG p.K384R NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 384 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 CAGCGAGTTCTTGCTATTCCT 0.498 CLCN6 1185 broad.mit.edu 37 1 11887152 11887152 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:11887152G>T uc001ate.3 + 10 827 c.714G>T c.(712-714)AAG>AAT p.K238N CLCN6_uc009vnf.1_Nonsense_Mutation_p.E242*|CLCN6_uc009vng.1_Intron|CLCN6_uc009vnh.1_Missense_Mutation_p.K238N|CLCN6_uc010oat.1_Intron|CLCN6_uc010oau.1_Missense_Mutation_p.K216N NM_001286 NP_001277 P51797 CLCN6_HUMAN chloride channel 6 isoform ClC-6a 238 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCAGAGACAAGAGAGACTTTG 0.527 VPS13D 55187 broad.mit.edu 37 1 12337111 12337111 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:12337111T>C uc001atv.2 + 19 3607 c.3466T>C c.(3466-3468)TAC>CAC p.Y1156H VPS13D_uc001atw.2_Missense_Mutation_p.Y1156H|VPS13D_uc001atx.2_Missense_Mutation_p.Y344H NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1156 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) ACAAGGAACTTACCAGTCTAC 0.378 ZBTB17 7709 broad.mit.edu 37 1 16269901 16269901 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:16269901C>A uc001axl.3 - 12 1929 c.1690G>T c.(1690-1692)GGC>TGC p.G564C ZBTB17_uc010obq.1_Missense_Mutation_p.G481C|ZBTB17_uc010obr.1_Missense_Mutation_p.G564C|ZBTB17_uc010obs.1_Missense_Mutation_p.G488C NM_003443 NP_003434 Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 564 C2H2-type 10. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GACCTCTTGCCGCAGCGCTCG 0.667 ZBTB17 7709 broad.mit.edu 37 1 16270392 16270392 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:16270392T>C uc001axl.3 - 10 1611 c.1372_splice c.e10-1 p.V458_splice ZBTB17_uc010obq.1_Splice_Site_p.V375_splice|ZBTB17_uc010obr.1_Splice_Site_p.V458_splice|ZBTB17_uc010obs.1_Splice_Site_p.V382_splice|ZBTB17_uc010obt.1_3'UTR|ZBTB17_uc010obu.1_3'UTR NM_003443 NP_003434 Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GTTCCCTACCTGTGCCCAGGG 0.652 PADI3 51702 broad.mit.edu 37 1 17609341 17609341 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:17609341G>A uc001bai.2 + 16 1802 c.1762G>A c.(1762-1764)GTG>ATG p.V588M NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 588 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGACTGCAGGTGAACATGCT 0.582 KLHDC7A 127707 broad.mit.edu 37 1 18808480 18808480 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:18808480A>G uc001bax.2 + 1 1057 c.1005A>G c.(1003-1005)CAA>CAG p.Q335Q KLHDC7A_uc009vpg.2_Silent_p.Q117Q NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 335 Kelch 1. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CGGGAGGCCAAGCCGGTGACA 0.687 TAS1R2 80834 broad.mit.edu 37 1 19166520 19166520 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:19166520A>G uc001bba.1 - 6 2094 c.2093T>C c.(2092-2094)CTG>CCG p.L698P NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 698 Helical; Name=4; (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GCCCGTGGCCAGCATGCCAAT 0.557 NBL1 4681 broad.mit.edu 37 1 19983449 19983449 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:19983449A>G uc001bck.1 + 4 525 c.370A>G c.(370-372)AAG>GAG p.K124E NBL1_uc009vpl.1_Missense_Mutation_p.K125E|NBL1_uc001bcj.1_Missense_Mutation_p.K160E|NBL1_uc009vpm.1_Missense_Mutation_p.K125E NM_005380 NP_005371 P41271 NBL1_HUMAN neuroblastoma, suppression of tumorigenicity 1 2 124 extracellular region ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCCTGCGGCAAGGAGCCTAG 0.577 HSPG2 3339 broad.mit.edu 37 1 22179477 22179477 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:22179477G>A uc001bfj.2 - 51 6566 c.6526C>T c.(6526-6528)CCC>TCC p.P2176S HSPG2_uc009vqd.2_Missense_Mutation_p.P2177S NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2176 Ig-like C2-type 7. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCCTGCCCGGGCACCACGCAG 0.716 E2F2 1870 broad.mit.edu 37 1 23845552 23845552 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:23845552T>C uc001bhe.1 - 5 1236 c.808A>G c.(808-810)AAG>GAG p.K270E NM_004091 NP_004082 Q14209 E2F2_HUMAN E2F transcription factor 2 270 Dimerization (Potential). G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|skin(2) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) GGAGGGGCCTTGACGGCAATC 0.557 EIF2C1 26523 broad.mit.edu 37 1 36358858 36358858 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:36358858T>C uc001bzl.2 + 4 704 c.491T>C c.(490-492)ATG>ACG p.M164T EIF2C1_uc001bzk.2_Missense_Mutation_p.M89T|EIF2C1_uc009vuy.2_5'Flank NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 164 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GATGTGGCCATGAGGCACCTG 0.562 MRPS15 64960 broad.mit.edu 37 1 36921835 36921835 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:36921835G>A uc001cas.2 - 7 753 c.589C>T c.(589-591)CGA>TGA p.R197* NM_031280 NP_112570 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 precursor 197 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGGCTCTTCGGTAATACAGA 0.522 CSF3R 1441 broad.mit.edu 37 1 36938264 36938264 + Missense_Mutation SNP G G A rs150616658 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:36938264G>A uc001caw.1 - 7 875 c.697C>T c.(697-699)CGG>TGG p.R233W CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.R233W|CSF3R_uc001cax.1_Missense_Mutation_p.R233W|CSF3R_uc001cay.1_Missense_Mutation_p.R233W NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 233 Extracellular (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) TCCATGGTCCGCAGCATGGGG 0.627 MACF1 23499 broad.mit.edu 37 1 39844153 39844153 + Nonsense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:39844153G>T uc010oiu.1 + 17 8685 c.8554G>T c.(8554-8556)GGA>TGA p.G2852* MACF1_uc010ois.1_Nonsense_Mutation_p.G2350*|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4417 SILPSVG -> EYRLFKI (in Ref. 5; BAA86565). cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCCCTCTGTAGGAAGCTCTGT 0.468 KIAA0754 643314 broad.mit.edu 37 1 39876405 39876405 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:39876405A>G uc009vvt.1 + 1 1230 c.468A>G c.(466-468)TCA>TCG p.S156S MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 20 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTGAGGTTTCAGAAGCTGGTG 0.463 HPCAL4 51440 broad.mit.edu 37 1 40149624 40149624 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:40149624C>T uc001cdr.2 - 3 483 c.363G>A c.(361-363)ATG>ATA p.M121I HPCAL4_uc010oix.1_Intron NM_016257 NP_057341 Q9UM19 HPCL4_HUMAN hippocalcin-like protein 4 121 EF-hand 3. central nervous system development intracellular calcium ion binding central_nervous_system(1) 1 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGATCTCCAGCATCTCCAGGC 0.701 TRIT1 54802 broad.mit.edu 37 1 40309854 40309854 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:40309854A>G uc010oiz.1 - 10 1167 c.1153T>C c.(1153-1155)TAC>CAC p.Y385H TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.Y81H|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.Y139H|TRIT1_uc001ceh.3_Missense_Mutation_p.Y139H|TRIT1_uc009vvv.2_Missense_Mutation_p.Y218H|TRIT1_uc001cei.3_Missense_Mutation_p.Y139H|TRIT1_uc001ceq.2_Missense_Mutation_p.Y81H|TRIT1_uc001cek.2_Missense_Mutation_p.Y81H|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.Y303H|TRIT1_uc001cen.2_Missense_Mutation_p.Y139H|TRIT1_uc001ceo.2_Missense_Mutation_p.Y139H|TRIT1_uc001cep.2_Missense_Mutation_p.Y139H NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 385 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCTTCATTGTATGGCATCTTT 0.448 ZNF642 339559 broad.mit.edu 37 1 40961584 40961584 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:40961584T>C uc001cfo.2 + 6 1728 c.1434T>C c.(1432-1434)CAT>CAC p.H478H ZNF642_uc009vwb.2_Silent_p.H478H|ZNF642_uc010ojk.1_Silent_p.H479H NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 478 C2H2-type 8. 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) CCTATAGGCATGATTCATCCT 0.398 LEPRE1 64175 broad.mit.edu 37 1 43224593 43224593 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:43224593T>C uc001chv.2 - 4 983 c.870A>G c.(868-870)CCA>CCG p.P290P LEPRE1_uc001chw.2_Silent_p.P290P|LEPRE1_uc001chx.3_Silent_p.P290P NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 290 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCTCTCGACTTGGGTGGGAAG 0.443 ZNF691 51058 broad.mit.edu 37 1 43317265 43317265 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:43317265C>T uc001cih.2 + 2 768 c.717C>T c.(715-717)GGC>GGT p.G239G ZNF691_uc001cig.2_Silent_p.G212G|ZNF691_uc009vwm.2_Silent_p.G232G NM_015911 NP_056995 Q5VV52 ZN691_HUMAN zinc finger protein 691 243 C2H2-type 5. nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCAGCTTTGGCGTGCATCACC 0.587 ELOVL1 64834 broad.mit.edu 37 1 43829798 43829798 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:43829798A>G uc001ciz.2 - 9 872 c.629T>C c.(628-630)GTC>GCC p.V210A ELOVL1_uc001cja.2_Missense_Mutation_p.V210A|ELOVL1_uc001cjb.2_Missense_Mutation_p.V210A|ELOVL1_uc001cjc.2_RNA|ELOVL1_uc010okh.1_Missense_Mutation_p.V183A NM_022821 NP_073732 Q9BW60 ELOV1_HUMAN elongation of very long chain fatty acids-like 210 Helical; (Potential). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGAGACCAGGACAAACTGGAT 0.478 KIAA0467 23334 broad.mit.edu 37 1 43896402 43896402 + Silent SNP C C T rs147043685 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:43896402C>T uc001cjk.1 + 17 2481 c.2019C>T c.(2017-2019)TCC>TCT p.S673S NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1572 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCACGTGCTCCGTGCGGCTAC 0.607 KDM4A 9682 broad.mit.edu 37 1 44163664 44163664 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:44163664C>T uc001cjx.2 + 19 2987 c.2821C>T c.(2821-2823)CTT>TTT p.L941F KDM4A_uc010oki.1_Intron NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 941 Tudor 1. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 CAGCGACAATCTTTATCCTGA 0.488 IPO13 9670 broad.mit.edu 37 1 44415386 44415386 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:44415386G>A uc001ckx.2 + 2 1177 c.382G>A c.(382-384)GCC>ACC p.A128T NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 128 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) CGTGGCACTGGCCTCACTGGC 0.572 DPH2 1802 broad.mit.edu 37 1 44437275 44437275 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:44437275T>C uc001ckz.2 + 4 896 c.701T>C c.(700-702)CTG>CCG p.L234P DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.L99P|DPH2_uc001clb.2_Missense_Mutation_p.L158P NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN diphthamide biosynthesis protein 2 isoform a 234 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GACCCAGACCTGAGTCGGCTG 0.627 B4GALT2 8704 broad.mit.edu 37 1 44447558 44447558 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:44447558C>T uc001clg.2 + 3 881 c.511C>T c.(511-513)CGG>TGG p.R171W B4GALT2_uc001clh.2_Missense_Mutation_p.R105W|B4GALT2_uc010okl.1_Missense_Mutation_p.R200W|B4GALT2_uc001cli.2_Missense_Mutation_p.R171W NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 171 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CATCTTGAGGCGGCAGCGGCT 0.612 DMAP1 55929 broad.mit.edu 37 1 44684858 44684858 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:44684858C>T uc001clq.1 + 7 931 c.851C>T c.(850-852)ACG>ATG p.T284M DMAP1_uc001clr.1_Missense_Mutation_p.T284M|DMAP1_uc001cls.1_Missense_Mutation_p.T284M|DMAP1_uc010oku.1_Missense_Mutation_p.T274M NM_001034024 NP_001029196 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 284 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding 0 Acute lymphoblastic leukemia(166;0.155) CAGCGGCGCACGGAACGCAAG 0.622 KIF2C 11004 broad.mit.edu 37 1 45218915 45218915 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:45218915C>A uc001cmg.3 + 6 666 c.551C>A c.(550-552)CCT>CAT p.P184H KIF2C_uc010olb.1_Intron|KIF2C_uc010olc.1_Missense_Mutation_p.P71H|KIF2C_uc001cmh.3_Missense_Mutation_p.P130H NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 184 Globular (Potential). blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TCTGCAAACCCTGTGAACTCA 0.527 ZSWIM5 57643 broad.mit.edu 37 1 45504669 45504669 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:45504669G>A uc001cnd.2 - 8 2061 c.1833C>T c.(1831-1833)TGC>TGT p.C611C NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 611 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) TGAGAAACAGGCAGTCGATGG 0.537 GPBP1L1 60313 broad.mit.edu 37 1 46094046 46094046 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:46094046A>G uc001coq.2 - 13 2668 c.1307T>C c.(1306-1308)TTG>TCG p.L436S GPBP1L1_uc001coo.2_Missense_Mutation_p.L180S NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GCGGCTCTGCAAGAAGCCATT 0.443 GPBP1L1 60313 broad.mit.edu 37 1 46095321 46095321 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:46095321T>C uc001coq.2 - 12 2560 c.1199A>G c.(1198-1200)TAT>TGT p.Y400C GPBP1L1_uc001coo.2_Missense_Mutation_p.Y144C NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ATTTTCAGGATATTCCTGCCA 0.443 MAST2 23139 broad.mit.edu 37 1 46500422 46500422 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:46500422C>T uc001cov.2 + 29 4364 c.4081C>T c.(4081-4083)CGG>TGG p.R1361W MAST2_uc001cow.2_Missense_Mutation_p.R1360W|MAST2_uc001cpa.2_Intron NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 1361 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) TTCACCTCAGCGGTCCCCATC 0.642 CYP4Z1 199974 broad.mit.edu 37 1 47571852 47571852 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:47571852C>T uc001cqu.1 + 9 1123 c.1120C>T c.(1120-1122)CGC>TGC p.R374C NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 374 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 GGAATGCCTCCGCCTCTACGC 0.493 ELAVL4 1996 broad.mit.edu 37 1 50663114 50663114 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:50663114C>T uc001csb.2 + 6 1016 c.748C>T c.(748-750)CTT>TTT p.L250F ELAVL4_uc001cry.3_Missense_Mutation_p.L253F|ELAVL4_uc001crz.3_Missense_Mutation_p.L250F|ELAVL4_uc001csa.3_Missense_Mutation_p.L267F|ELAVL4_uc001csc.3_Missense_Mutation_p.L250F|ELAVL4_uc009vyu.2_Missense_Mutation_p.L255F|ELAVL4_uc010omz.1_Missense_Mutation_p.L255F NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 250 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 GGACAATTTGCTTAATATGGC 0.408 TTC39A 22996 broad.mit.edu 37 1 51771659 51771659 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:51771659G>A uc001csl.2 - 7 791 c.686C>T c.(685-687)GCC>GTC p.A229V TTC39A_uc001csk.2_Missense_Mutation_p.A194V|TTC39A_uc010ond.1_Missense_Mutation_p.A166V|TTC39A_uc010one.1_Missense_Mutation_p.A193V|TTC39A_uc010onf.1_Missense_Mutation_p.A197V|TTC39A_uc001csn.2_Missense_Mutation_p.A228V|TTC39A_uc001cso.1_Missense_Mutation_p.A225V|TTC39A_uc009vyy.1_Missense_Mutation_p.A166V NM_001080494 NP_001073963 Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A isoform 2 229 binding skin(1) 1 CAGGTTGAAGGCCCCTACACC 0.562 OSBPL9 114883 broad.mit.edu 37 1 52179678 52179678 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:52179678G>A uc001cst.2 + 4 264 c.245G>A c.(244-246)CGT>CAT p.R82H OSBPL9_uc001css.2_Missense_Mutation_p.R100H|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.R83H|OSBPL9_uc001csu.2_Missense_Mutation_p.R82H|OSBPL9_uc001csv.2_Translation_Start_Site|OSBPL9_uc001csw.2_Missense_Mutation_p.R82H NM_024586 NP_078862 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 isoform e 82 PH. lipid transport lipid binding central_nervous_system(1) 1 ATTCCAGCCCGTGATGCTGAT 0.328 LRRC42 115353 broad.mit.edu 37 1 54433549 54433549 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:54433549A>G uc001cwj.1 + 8 1424 c.1224A>G c.(1222-1224)CAA>CAG p.Q408Q LRRC42_uc001cwl.1_Silent_p.Q408Q|LRRC42_uc001cwk.1_Silent_p.Q408Q|LRRC42_uc009vzm.1_Silent_p.Q404Q NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 408 0 ACTCTTCACAACCTTCAAAGC 0.433 DHCR24 1718 broad.mit.edu 37 1 55337114 55337114 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:55337114T>C uc001cyc.1 - 5 914 c.785A>G c.(784-786)CAG>CGG p.Q262R DHCR24_uc010ooj.1_Missense_Mutation_p.Q124R|DHCR24_uc010ook.1_Missense_Mutation_p.Q221R NM_014762 NP_055577 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase precursor 262 anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding pancreas(1) 1 GTGGTTCTCCTGCCGCTGGGA 0.582 USP24 23358 broad.mit.edu 37 1 55624658 55624658 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:55624658G>A uc001cyg.3 - 9 784 c.784C>T c.(784-786)CGC>TGC p.R262C NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 374 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 GGTTGGAAGCGCATGCAAAGT 0.378 MYSM1 114803 broad.mit.edu 37 1 59126870 59126870 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:59126870C>T uc009wab.1 - 19 2323 c.2300G>A c.(2299-2301)CGG>CAG p.R767Q uc001cza.2_5'Flank|MYSM1_uc009waa.1_Missense_Mutation_p.R173Q|MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 767 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) GTCAGAATCCCGGCGAAAGAT 0.363 MIER1 57708 broad.mit.edu 37 1 67436605 67436605 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:67436605C>T uc001dde.2 + 9 1021 c.887C>T c.(886-888)GCA>GTA p.A296V MIER1_uc010opf.1_Missense_Mutation_p.A260V|MIER1_uc009way.2_Missense_Mutation_p.A260V|MIER1_uc001ddc.2_Missense_Mutation_p.A296V|MIER1_uc001ddh.2_Missense_Mutation_p.A180V|MIER1_uc001ddf.2_Missense_Mutation_p.A260V|MIER1_uc001ddg.2_Missense_Mutation_p.A216V|MIER1_uc010opg.1_Missense_Mutation_p.A260V|MIER1_uc001ddj.1_Missense_Mutation_p.A243V|MIER1_uc001ddi.2_Missense_Mutation_p.A243V NM_001077700 NP_001071168 Q8N108 MIER1_HUMAN mesoderm induction early response 1 isoform b 267 ELM2.|Interaction with HDAC1. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1) 1 GGTGTAGAAGCAATTCCTGAA 0.383 PTGER3 5733 broad.mit.edu 37 1 71512898 71512898 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:71512898C>T uc001dfg.1 - 1 594 c.363G>A c.(361-363)GAG>GAA p.E121E PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.E121E|PTGER3_uc001dfl.1_Silent_p.E121E|PTGER3_uc009wbm.1_Silent_p.E121E|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.E121E|PTGER3_uc009wbn.1_Silent_p.E121E|PTGER3_uc009wbo.2_Silent_p.E121E|PTGER3_uc001dfo.2_Silent_p.E121E|PTGER3_uc001dfp.1_Silent_p.E121E|PTGER3_uc001dfq.2_Silent_p.E121E|uc001dfr.2_RNA NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 121 Extracellular (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) GGTCGATGTGCTCCCAACGCT 0.642 SLC44A5 204962 broad.mit.edu 37 1 75693519 75693519 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:75693519A>G uc001dgu.2 - 13 1021 c.877T>C c.(877-879)TAC>CAC p.Y293H SLC44A5_uc001dgt.2_Missense_Mutation_p.Y293H|SLC44A5_uc001dgs.2_Missense_Mutation_p.Y251H|SLC44A5_uc001dgr.2_Missense_Mutation_p.Y251H|SLC44A5_uc010oqz.1_Missense_Mutation_p.Y332H|SLC44A5_uc010ora.1_Missense_Mutation_p.Y287H|SLC44A5_uc010orb.1_Missense_Mutation_p.Y163H NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 293 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 AGATTGGTGTACTGCTGGTAA 0.343 ELTD1 64123 broad.mit.edu 37 1 79383320 79383320 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:79383320A>G uc001diq.3 - 12 1904 c.1748T>C c.(1747-1749)CTT>CCT p.L583P NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 583 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TATACATACAAGAATGATTAG 0.274 ELTD1 64123 broad.mit.edu 37 1 79383329 79383329 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:79383329A>T uc001diq.3 - 12 1895 c.1739T>A c.(1738-1740)CTA>CAA p.L580Q NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 580 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AAGAATGATTAGGCATGCTGG 0.284 CCBL2 56267 broad.mit.edu 37 1 89408688 89408688 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:89408688T>C uc001dmp.2 - 13 1679 c.1302A>G c.(1300-1302)AAA>AAG p.K434K CCBL2_uc001dmq.2_Silent_p.K400K|CCBL2_uc001dmr.2_Silent_p.K270K NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 434 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGGAACTTACTTTAATGAAGC 0.308 LRRC8D 55144 broad.mit.edu 37 1 90399962 90399962 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:90399962A>G uc001dnm.2 + 3 1760 c.1335A>G c.(1333-1335)AAA>AAG p.K445K LRRC8D_uc001dnn.2_Silent_p.K445K NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 445 integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GTGAAAATAAACTTAGGGAAA 0.418 MTF2 22823 broad.mit.edu 37 1 93602519 93602519 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:93602519C>T uc009wdj.2 + 15 2009 c.1717C>T c.(1717-1719)CGT>TGT p.R573C MTF2_uc010oth.1_Missense_Mutation_p.R471C|MTF2_uc009wdk.2_Missense_Mutation_p.R516C|MTF2_uc001dpi.3_Missense_Mutation_p.R300C|MTF2_uc010oti.1_Missense_Mutation_p.R471C|MTF2_uc001dpj.3_Missense_Mutation_p.R471C|MTF2_uc001dpl.3_Missense_Mutation_p.R471C|MTF2_uc001dpm.3_Missense_Mutation_p.R242C NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 573 nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) AGTTTTGGCACGTCGGGTGAC 0.443 GCLM 2730 broad.mit.edu 37 1 94360237 94360237 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:94360237C>T uc001dqg.1 - 6 881 c.588G>A c.(586-588)ATG>ATA p.M196I NM_002061 NP_002052 P48507 GSH0_HUMAN glutamate-cysteine ligase regulatory protein 196 glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process cytosol|soluble fraction glutamate-cysteine ligase catalytic subunit binding ovary(1) 1 all_lung(203;0.000815)|Lung NSC(277;0.00363) all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) AATCTGGTGGCATCACACAGC 0.318 PTBP2 58155 broad.mit.edu 37 1 97250755 97250755 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:97250755A>G uc001drq.2 + 8 1095 c.849A>G c.(847-849)CAA>CAG p.Q283Q PTBP2_uc001drn.2_Silent_p.Q283Q|PTBP2_uc001dro.2_Silent_p.Q283Q|PTBP2_uc010otz.1_Silent_p.Q294Q|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Silent_p.Q231Q|PTBP2_uc001drr.2_Silent_p.Q283Q|PTBP2_uc010oua.1_Silent_p.Q291Q|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 283 nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) GGGATGGACAACCTGCATTGG 0.383 WDR47 22911 broad.mit.edu 37 1 109525279 109525279 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:109525279T>C uc001dwj.2 - 12 2594 c.2218A>G c.(2218-2220)ACC>GCC p.T740A WDR47_uc001dwl.2_Missense_Mutation_p.T748A|WDR47_uc001dwi.2_Missense_Mutation_p.T741A|WDR47_uc010ovf.1_Missense_Mutation_p.T665A NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 740 WD 3. ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TGACAATCGGTTGTATAAATG 0.413 LIX1L 128077 broad.mit.edu 37 1 145487432 145487432 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:145487432A>G uc001enr.2 + 2 495 c.421A>G c.(421-423)ACC>GCC p.T141A NBPF10_uc001emp.3_Intron NM_153713 NP_714924 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse) like 141 ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGCTATGTCACCCTGCCTGG 0.507 POLR3C 10623 broad.mit.edu 37 1 145606365 145606365 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:145606365T>C uc001eoh.2 - 5 751 c.590_splice c.e5-1 p.G197_splice NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Splice_Site_p.G210_splice|POLR3C_uc001eoi.2_Splice_Site|POLR3C_uc009wix.2_Splice_Site_p.G197_splice NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TACCTTTCCCTGCCAAACAAA 0.423 SETDB1 9869 broad.mit.edu 37 1 150923206 150923206 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:150923206A>G uc001evu.2 + 13 2043 c.1853A>G c.(1852-1854)AAC>AGC p.N618S SETDB1_uc009wmf.2_Missense_Mutation_p.N619S|SETDB1_uc001evv.2_Missense_Mutation_p.N618S|SETDB1_uc009wmg.1_Missense_Mutation_p.N618S NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 618 MBD. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CGTCGAGTTAACCGCAAGATG 0.527 TCHH 7062 broad.mit.edu 37 1 152081227 152081227 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:152081227T>C uc001ezp.2 - 2 4466 c.4466A>G c.(4465-4467)GAG>GGG p.E1489G TCHH_uc009wne.1_Missense_Mutation_p.E1489G NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1489 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTTCCTCCTCCAGGAATTT 0.552 HRNR 388697 broad.mit.edu 37 1 152188012 152188012 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:152188012T>C uc001ezt.1 - 3 6169 c.6093A>G c.(6091-6093)CAA>CAG p.Q2031Q NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2031 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAGCTCCATGTTGGCCACAGC 0.562 HRNR 388697 broad.mit.edu 37 1 152192934 152192934 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:152192934C>A uc001ezt.1 - 3 1247 c.1171G>T c.(1171-1173)GGC>TGC p.G391C NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 391 4. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCTGGAGCCATGTTGGCCA 0.577 FLG2 388698 broad.mit.edu 37 1 152326514 152326514 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:152326514T>C uc001ezw.3 - 3 3821 c.3748A>G c.(3748-3750)AGC>GGC p.S1250G uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1250 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGACTGGCTATGTCTAGTG 0.473 LCE5A 254910 broad.mit.edu 37 1 152484072 152484072 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:152484072C>A uc001ezy.2 + 2 238 c.62C>A c.(61-63)CCT>CAT p.P21H CRCT1_uc001ezz.2_5'Flank NM_178438 NP_848525 Q5TCM9 LCE5A_HUMAN late cornified envelope 5A 21 Cys-rich. keratinization ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTAAATGCcctcccaagtgt 0.428 IVL 3713 broad.mit.edu 37 1 152882474 152882474 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:152882474A>G uc001fau.2 + 2 247 c.201A>G c.(199-201)GTA>GTG p.V67V NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 67 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGACTGCTGTAAAGGGACTGC 0.373 NPR1 4881 broad.mit.edu 37 1 153657446 153657446 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:153657446G>A uc001fcs.3 + 8 1912 c.1491G>A c.(1489-1491)ATG>ATA p.M497I NPR1_uc010pdz.1_Missense_Mutation_p.M243I|NPR1_uc010pea.1_Missense_Mutation_p.M1I NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 497 Cytoplasmic (Potential). body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CCAGGAAGATGCAGCTGGAGA 0.667 CREB3L4 148327 broad.mit.edu 37 1 153946445 153946445 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:153946445T>C uc001fdn.3 + 10 1358 c.1092T>C c.(1090-1092)GAT>GAC p.D364D CREB3L4_uc010pef.1_Silent_p.D217D|CREB3L4_uc001fdo.3_Silent_p.D344D|CREB3L4_uc001fdm.1_Silent_p.D364D|CREB3L4_uc001fdp.1_Silent_p.D344D|CREB3L4_uc001fdr.2_Silent_p.D364D|CREB3L4_uc001fdq.2_Silent_p.D344D NM_130898 NP_570968 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 364 Lumenal (Potential). response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GAGCCAAGGATGCAAATGGCT 0.542 NUP210L 91181 broad.mit.edu 37 1 154112412 154112412 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:154112412C>T uc001fdw.2 - 5 655 c.583G>A c.(583-585)GAA>AAA p.E195K NUP210L_uc010peh.1_Missense_Mutation_p.E195K NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 195 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TATTCTGCTTCGGAGTATTTA 0.363 UBAP2L 9898 broad.mit.edu 37 1 154239006 154239006 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:154239006G>A uc001fep.3 + 25 3099 c.2932G>A c.(2932-2934)GTG>ATG p.V978M UBAP2L_uc010pel.1_Missense_Mutation_p.V988M|UBAP2L_uc001feq.2_Missense_Mutation_p.V174M|UBAP2L_uc001fer.2_Missense_Mutation_p.V174M NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 978 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TAACACGGGCGTGCCAGATAT 0.517 DCST1 149095 broad.mit.edu 37 1 155020285 155020285 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:155020285C>T uc001fgn.1 + 15 1731 c.1635C>T c.(1633-1635)GGC>GGT p.G545G DCST1_uc010pes.1_Silent_p.G520G|uc001fgo.2_Intron NM_152494 NP_689707 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 isoform 1 545 Extracellular (Potential). integral to membrane zinc ion binding ovary(1)|skin(1) 2 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) AGCCTGTGGGCCTGGATGCCA 0.647 TRIM46 80128 broad.mit.edu 37 1 155154563 155154563 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:155154563C>T uc001fhs.1 + 9 1907 c.1824C>T c.(1822-1824)GGC>GGT p.G608G RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.G482G|TRIM46_uc001fhu.1_Silent_p.G585G|TRIM46_uc009wpg.1_Silent_p.G595G|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 608 B30.2/SPRY. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCAAGGTGGGCGTCGGGCTGG 0.642 HCN3 57657 broad.mit.edu 37 1 155252506 155252506 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:155252506C>T uc001fjz.1 + 2 591 c.583C>T c.(583-585)CGG>TGG p.R195W RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Translation_Start_Site NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 195 Extracellular (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGGAGCCACGGTTGGACGC 0.602 FDPS 2224 broad.mit.edu 37 1 155282155 155282155 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:155282155G>A uc001fkc.2 + 4 668 c.449G>A c.(448-450)CGG>CAG p.R150Q RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.R84Q|FDPS_uc001fke.2_Missense_Mutation_p.R150Q|FDPS_uc001fkf.2_Missense_Mutation_p.R84Q NM_002004 NP_001995 P14324 FPPS_HUMAN farnesyl diphosphate synthase isoform a 150 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) AGTCTCCAGCGGGCCTGGACT 0.567 ASH1L 55870 broad.mit.edu 37 1 155451338 155451338 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:155451338A>G uc009wqq.2 - 3 1803 c.1323T>C c.(1321-1323)AGT>AGC p.S441S ASH1L_uc001fkt.2_Silent_p.S441S|ASH1L_uc009wqr.1_Silent_p.S441S NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 441 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) TGATGTTTGTACTACAAGAAG 0.418 LMNA 4000 broad.mit.edu 37 1 156105025 156105025 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:156105025G>A uc001fni.2 + 5 1107 c.858G>A c.(856-858)GGG>GGA p.G286G LMNA_uc001fnf.1_Silent_p.G286G|LMNA_uc001fng.2_Silent_p.G286G|LMNA_uc001fnh.2_Silent_p.G286G|LMNA_uc009wro.1_Silent_p.G286G|LMNA_uc010pgz.1_Silent_p.G174G|LMNA_uc001fnj.2_Silent_p.G205G|LMNA_uc001fnk.2_Silent_p.G187G|LMNA_uc009wrp.2_Missense_Mutation_p.G14E|LMNA_uc010pha.1_5'Flank NM_170707 NP_733821 P02545 LMNA_HUMAN lamin A/C isoform 1 precursor 286 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity|structural molecule activity ovary(2) 2 Hepatocellular(266;0.158) ACCTGGTGGGGGCTGCCCACG 0.637 Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome SMG5 23381 broad.mit.edu 37 1 156235734 156235734 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:156235734T>G uc001foc.3 - 12 1842 c.1693A>C c.(1693-1695)AGC>CGC p.S565R SMG5_uc009wrv.2_Missense_Mutation_p.S50R NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 565 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) TGTAGATTGCTGGCAATGCTA 0.627 NES 10763 broad.mit.edu 37 1 156642747 156642747 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:156642747A>G uc001fpq.2 - 4 1366 c.1233T>C c.(1231-1233)CCT>CCC p.P411P NM_006617 NP_006608 P48681 NEST_HUMAN nestin 411 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCAGAGAGAGAGGAGCATCCT 0.652 SH2D2A 9047 broad.mit.edu 37 1 156779193 156779193 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:156779193G>A uc001fqd.2 - 7 944 c.804C>T c.(802-804)CGC>CGT p.R268R SH2D2A_uc001fqc.1_Silent_p.R240R|SH2D2A_uc009wsh.2_Silent_p.R278R|SH2D2A_uc001fqe.2_Silent_p.R250R|SH2D2A_uc010phs.1_Silent_p.R268R NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 268 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTGGGGCCGGGCGGTGTCGTG 0.632 INSRR 3645 broad.mit.edu 37 1 156816356 156816356 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:156816356G>A uc010pht.1 - 8 2019 c.1765C>T c.(1765-1767)CAA>TAA p.Q589* NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 589 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGCTCCTTGATGAGGGCTG 0.597 CD1D 912 broad.mit.edu 37 1 158152042 158152042 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:158152042C>T uc001frr.2 + 4 1048 c.549C>T c.(547-549)ACC>ACT p.T183T CD1D_uc009wsr.1_Silent_p.T183T|CD1D_uc009wss.2_Silent_p.T183T|CD1D_uc009wst.1_Silent_p.T79T NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 183 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) TTAATGGCACCTGCCCCCAAT 0.547 CD1A 909 broad.mit.edu 37 1 158226686 158226686 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:158226686C>T uc001frt.2 + 4 1248 c.715C>T c.(715-717)CGG>TGG p.R239W NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 239 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GATGTGGATGCGGGGTGAGCA 0.642 CD1B 910 broad.mit.edu 37 1 158299763 158299763 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:158299763G>T uc001frx.2 - 3 594 c.486C>A c.(484-486)TTC>TTA p.F162L CD1B_uc001frw.2_Missense_Mutation_p.F55L NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 162 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) TTAGTGCACAGAATTTCTGTG 0.478 CD1E 913 broad.mit.edu 37 1 158325868 158325868 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:158325868G>A uc001fse.2 + 4 1116 c.877G>A c.(877-879)GGG>AGG p.G293R CD1E_uc010pid.1_Missense_Mutation_p.G291R|CD1E_uc010pie.1_Missense_Mutation_p.G194R|CD1E_uc010pif.1_Missense_Mutation_p.G104R|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.G203R|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.G104R|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.G293R|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.G104R|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.G194R|CD1E_uc001frz.2_Missense_Mutation_p.G203R|CD1E_uc009wsw.2_Missense_Mutation_p.G51R NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 293 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) CAGCAGTCTAGGGGGCCATGA 0.557 SPTA1 6708 broad.mit.edu 37 1 158581162 158581162 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:158581162T>G uc001fst.1 - 52 7351 c.7152A>C c.(7150-7152)CAA>CAC p.Q2384H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2384 EF-hand 3. 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) AGAATGACACTTGCTCTGGGG 0.443 OR6K3 391114 broad.mit.edu 37 1 158687251 158687251 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:158687251T>C uc010pip.1 - 1 703 c.703A>G c.(703-705)AGA>GGA p.R235G NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GTGACAATTCTTACATAGGAC 0.458 IGSF9 57549 broad.mit.edu 37 1 159900941 159900941 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:159900941A>G uc001fur.2 - 13 1822 c.1624T>C c.(1624-1626)TGG>CGG p.W542R IGSF9_uc001fuq.2_Missense_Mutation_p.W526R|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 542 Fibronectin type-III 1.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGGTGTACCAGACACTGAAT 0.532 NOS1AP 9722 broad.mit.edu 37 1 162325131 162325131 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:162325131C>T uc001gbv.2 + 7 1137 c.750C>T c.(748-750)CAC>CAT p.H250H NOS1AP_uc010pkr.1_Silent_p.H245H|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Silent_p.H245H NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 250 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GAGGCTCTCACACAGGCTCCA 0.562 UCK2 7371 broad.mit.edu 37 1 165876941 165876941 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:165876941C>T uc001gdp.2 + 7 848 c.667C>T c.(667-669)CAG>TAG p.Q223* UCK2_uc010plb.1_Nonsense_Mutation_p.Q85* NM_012474 NP_036606 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 223 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity ovary(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCTCATCGTGCAGCACATCCA 0.612 MAEL 84944 broad.mit.edu 37 1 166958612 166958612 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:166958612G>A uc001gdy.1 + 1 94 c.23G>A c.(22-24)CGG>CAG p.R8Q MAEL_uc001gdz.1_Missense_Mutation_p.R8Q|MAEL_uc009wvf.1_5'Flank NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 8 HMG box. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 AAGGCCAGCCGGAATGCTTAC 0.607 METTL13 51603 broad.mit.edu 37 1 171753504 171753504 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:171753504C>T uc001ghz.2 + 2 1125 c.778C>T c.(778-780)CGC>TGC p.R260C METTL13_uc001gia.2_Missense_Mutation_p.R174C|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.R259C NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 260 methyltransferase activity|protein binding kidney(1) 1 CAGCCAGCTGCGCCGCAAGGC 0.677 KLHL20 27252 broad.mit.edu 37 1 173702865 173702865 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:173702865C>T uc001gjc.2 + 3 216 c.37C>T c.(37-39)CGA>TGA p.R13* KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_5'UTR|KLHL20_uc001gjd.2_Nonsense_Mutation_p.R13* NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 13 cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 TACCAACATTCGACCAGGAGA 0.473 KLHL20 27252 broad.mit.edu 37 1 173735385 173735385 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:173735385G>A uc001gjc.2 + 8 1431 c.1252G>A c.(1252-1254)GTG>ATG p.V418M KLHL20_uc010pmr.1_Missense_Mutation_p.V229M|KLHL20_uc009wwf.2_Missense_Mutation_p.V400M NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 418 Kelch 3. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 TCTTTATGCTGTGGGTGGCCA 0.438 GPR52 9293 broad.mit.edu 37 1 174417458 174417458 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:174417458T>C uc001gka.1 + 1 247 c.209T>C c.(208-210)CTG>CCG p.L70P RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron NM_005684 NP_005675 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 70 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity skin(1) 1 TGTGCTCCACTGTTACATCAT 0.418 TNR 7143 broad.mit.edu 37 1 175372584 175372584 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:175372584C>T uc001gkp.1 - 2 749 c.668G>A c.(667-669)AGC>AAC p.S223N TNR_uc009wwu.1_Missense_Mutation_p.S223N|TNR_uc010pmz.1_Missense_Mutation_p.S223N NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 223 Cys-rich.|EGF-like 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.S223S(1) pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GCTGTACTCGCTGTCACAGAT 0.627 RFWD2 64326 broad.mit.edu 37 1 175996767 175996767 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:175996767T>C uc001gku.1 - 15 1926 c.1670A>G c.(1669-1671)AAT>AGT p.N557S RFWD2_uc001gkv.1_Missense_Mutation_p.N533S|RFWD2_uc001gkw.1_Missense_Mutation_p.N317S|RFWD2_uc009wwv.2_Missense_Mutation_p.N356S|RFWD2_uc001gkt.1_Missense_Mutation_p.N396S NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 557 WD 4. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 ACAGCACACATTAGCCTTTGC 0.413 RFWD2 64326 broad.mit.edu 37 1 176012905 176012905 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:176012905A>G uc001gku.1 - 13 1727 c.1471T>C c.(1471-1473)TAT>CAT p.Y491H RFWD2_uc001gkv.1_Missense_Mutation_p.Y467H|RFWD2_uc001gkw.1_Missense_Mutation_p.Y251H|RFWD2_uc009wwv.2_Missense_Mutation_p.Y290H|RFWD2_uc001gkt.1_Missense_Mutation_p.Y330H NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 491 WD 2. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 GTGCCTTCATAATCACTGCTA 0.333 CACNA1E 777 broad.mit.edu 37 1 181686388 181686388 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:181686388G>A uc001gow.2 + 11 1640 c.1475G>A c.(1474-1476)TGT>TAT p.C492Y CACNA1E_uc009wxs.2_Missense_Mutation_p.C399Y NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 492 Helical; Name=S1 of repeat II.|II. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AACACTGCCTGTGTGGCCATT 0.552 HMCN1 83872 broad.mit.edu 37 1 186107029 186107029 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:186107029T>A uc001grq.1 + 89 14078 c.13849T>A c.(13849-13851)TCA>ACA p.S4617T HMCN1_uc001grs.1_Missense_Mutation_p.S186T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4617 TSP type-1 2. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CAATAATCCATCAGTTCAGCA 0.493 TPR 7175 broad.mit.edu 37 1 186325579 186325579 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:186325579A>G uc001grv.2 - 15 2024 c.1727T>C c.(1726-1728)ATC>ACC p.I576T NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 576 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AAGCTCAGTGATTCTGTAGAA 0.408 T NTRK1 papillary thyroid CRB1 23418 broad.mit.edu 37 1 197390889 197390889 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:197390889A>G uc001gtz.2 + 6 2066 c.1931A>G c.(1930-1932)CAA>CGA p.Q644R CRB1_uc010poz.1_Missense_Mutation_p.Q575R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.Q532R|CRB1_uc010ppb.1_Missense_Mutation_p.Q644R|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.Q125R|CRB1_uc001gub.1_Missense_Mutation_p.Q293R NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 644 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 GGCTGTCTCCAAGACATTAAA 0.433 KIF21B 23046 broad.mit.edu 37 1 200977992 200977992 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:200977992C>T uc001gvs.1 - 3 669 c.352G>A c.(352-354)GCA>ACA p.A118T KIF21B_uc001gvr.1_Missense_Mutation_p.A118T|KIF21B_uc009wzl.1_Missense_Mutation_p.A118T|KIF21B_uc010ppn.1_Missense_Mutation_p.A118T NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 118 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 AAGAGGTGTGCGATGGCCCTC 0.627 ARL8A 127829 broad.mit.edu 37 1 202107101 202107101 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:202107101G>A uc001gxk.1 - 3 436 c.270C>T c.(268-270)AGC>AGT p.S90S NM_138795 NP_620150 Q96BM9 ARL8A_HUMAN ADP-ribosylation factor-like 8A 90 cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity ovary(2) 2 ACACGATGGCGCTCACTCCTC 0.537 PPFIA4 8497 broad.mit.edu 37 1 203015058 203015058 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:203015058T>C uc009xaj.2 + 12 1389 c.1389T>C c.(1387-1389)CAT>CAC p.H463H PPFIA4_uc010pqf.1_Silent_p.H23H O75335 LIPA4_HUMAN SubName: Full=Liprin alpha4; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 CATCCATCCATGACCTCAATG 0.577 CHI3L1 1116 broad.mit.edu 37 1 203152803 203152803 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:203152803C>T uc001gzi.2 - 5 602 c.431G>A c.(430-432)CGG>CAG p.R144Q FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Missense_Mutation_p.R144Q NM_001276 NP_001267 P36222 CH3L1_HUMAN chitinase 3-like 1 precursor 144 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding pancreas(1) 1 TTTGTCTCTCCGTCCAGGGTA 0.577 ZC3H11A 9877 broad.mit.edu 37 1 203819736 203819736 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:203819736C>T uc001hac.2 + 18 2649 c.2033C>T c.(2032-2034)GCT>GTT p.A678V ZC3H11A_uc001had.2_Missense_Mutation_p.A678V|ZC3H11A_uc001hae.2_Missense_Mutation_p.A678V|ZC3H11A_uc001haf.2_Missense_Mutation_p.A678V|ZC3H11A_uc010pqm.1_Missense_Mutation_p.A624V NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 678 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) ATGCACGCTGCTGTCATTGCC 0.502 TMCC2 9911 broad.mit.edu 37 1 205238532 205238532 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:205238532G>A uc001hbz.1 + 4 1646 c.1202G>A c.(1201-1203)GGC>GAC p.G401D TMCC2_uc010prf.1_Missense_Mutation_p.G323D|TMCC2_uc001hca.2_Missense_Mutation_p.G176D|TMCC2_uc001hcb.1_Missense_Mutation_p.G161D|TMCC2_uc001hcc.1_Missense_Mutation_p.G22D|TMCC2_uc001hcd.2_Missense_Mutation_p.G168D NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 401 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) TTTGGGGGCGGCGTGGTGGAG 0.706 CR1 1378 broad.mit.edu 37 1 207739212 207739212 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:207739212A>G uc001hfy.2 + 16 2686 c.2546A>G c.(2545-2547)TAT>TGT p.Y849C CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.Y1299C|CR1_uc009xck.1_Intron NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 849 Extracellular (Potential).|Sushi 13. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TCTGCTAGTTATTGTGTCTTG 0.423 CR1 1378 broad.mit.edu 37 1 207782932 207782932 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:207782932T>C uc001hfy.2 + 29 4984 c.4844T>C c.(4843-4845)ATC>ACC p.I1615T CR1_uc009xcl.1_Missense_Mutation_p.I1165T|CR1_uc001hfx.2_Missense_Mutation_p.I2065T NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1615 Extracellular (Potential).|Sushi 25. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 ACTGAGATCATCAGATTTAGA 0.502 LAMB3 3914 broad.mit.edu 37 1 209788709 209788709 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:209788709C>T uc001hhg.2 - 22 3816 c.3426G>A c.(3424-3426)CTG>CTA p.L1142L LAMB3_uc009xco.2_Silent_p.L1142L|LAMB3_uc001hhh.2_Silent_p.L1142L NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 1142 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCGCTGAGCGCAGCATGATGG 0.582 LAMB3 3914 broad.mit.edu 37 1 209789929 209789929 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:209789929T>C uc001hhg.2 - 21 3659 c.3269A>G c.(3268-3270)GAC>GGC p.D1090G LAMB3_uc009xco.2_Missense_Mutation_p.D1090G|LAMB3_uc001hhh.2_Missense_Mutation_p.D1090G NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 1090 Domain I.|Potential. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) ACCCAACCGGTCCTTCAACTC 0.488 SERTAD4 56256 broad.mit.edu 37 1 210415037 210415037 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:210415037A>G uc001hhy.2 + 4 605 c.426A>G c.(424-426)GAA>GAG p.E142E SERTAD4_uc009xcw.2_Silent_p.E142E NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 142 SERTA. protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) TCCATGGAGAAATTATCATGC 0.418 KCNH1 3756 broad.mit.edu 37 1 210857460 210857460 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:210857460G>A uc001hib.2 - 11 2303 c.2133C>T c.(2131-2133)AGC>AGT p.S711S KCNH1_uc001hic.2_Silent_p.S684S NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 711 Cytoplasmic (Potential).|Calmodulin-binding. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GTTTCACATCGCTGATCTTCC 0.562 PPP2R5A 5525 broad.mit.edu 37 1 212519208 212519208 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:212519208C>T uc001hjb.2 + 5 1211 c.637C>T c.(637-639)CGA>TGA p.R213* PPP2R5A_uc010ptd.1_Nonsense_Mutation_p.R154* NM_006243 NP_006234 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B 213 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) TGTTCTGCACCGAATTTATGG 0.323 TATDN3 128387 broad.mit.edu 37 1 212981104 212981104 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:212981104T>C uc001hjo.2 + 8 608 c.514T>C c.(514-516)TTT>CTT p.F172L TATDN3_uc010ptj.1_Missense_Mutation_p.F172L|TATDN3_uc010ptk.1_Missense_Mutation_p.F172L|TATDN3_uc001hjp.2_Missense_Mutation_p.F172L|TATDN3_uc010ptl.1_Missense_Mutation_p.F151L|TATDN3_uc010ptm.1_Missense_Mutation_p.F120L NM_001042552 NP_001036017 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 isoform 1 172 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) GCTGCATGCATTTGATGGTCG 0.388 PROX1 5629 broad.mit.edu 37 1 214169903 214169903 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:214169903C>A uc001hkh.2 + 2 297 c.25C>A c.(25-27)CTC>ATC p.L9I PROX1_uc001hkg.1_Missense_Mutation_p.L9I NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 9 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CAGCACAGCCCTCTTAAGCCG 0.512 KCNK2 3776 broad.mit.edu 37 1 215179291 215179291 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:215179291T>C uc001hko.2 + 1 407 c.27T>C c.(25-27)GAT>GAC p.D9D KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA NM_001017424 NP_001017424 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform Error:Variant_position_missing_in_O95069_after_alignment outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CAAAAAGGGATTTCTACTGTG 0.373 KCTD3 51133 broad.mit.edu 37 1 215777493 215777493 + Silent SNP C C T rs138597417 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:215777493C>T uc001hks.2 + 13 1452 c.1158C>T c.(1156-1158)ATC>ATT p.I386I KCTD3_uc001hkt.2_Silent_p.I386I|KCTD3_uc010pub.1_Silent_p.I284I|KCTD3_uc009xdn.2_Silent_p.I138I NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 386 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GTAACTGGATCGAGATCGCCT 0.443 USH2A 7399 broad.mit.edu 37 1 216496967 216496967 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:216496967A>G uc001hku.1 - 8 1786 c.1399T>C c.(1399-1401)TAC>CAC p.Y467H USH2A_uc001hkv.2_Missense_Mutation_p.Y467H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 467 Laminin N-terminal.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGTTATTGTATCCAGGACGA 0.388 HNSCC(13;0.011) TGFB2 7042 broad.mit.edu 37 1 218607454 218607454 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:218607454A>G uc001hlm.2 + 3 1194 c.541A>G c.(541-543)ACC>GCC p.T181A TGFB2_uc001hln.2_Missense_Mutation_p.T209A|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 181 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AACATCTCCAACCCAGCGCTA 0.433 LBR 3930 broad.mit.edu 37 1 225598068 225598068 + Silent SNP G G A rs149483088 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:225598068G>A uc001hoy.2 - 10 1382 c.1239C>T c.(1237-1239)CGC>CGT p.R413R LBR_uc001hoz.2_Silent_p.R413R|LBR_uc001hpa.1_Silent_p.R413R NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 413 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) ATGGAACAGCGCGGTCCTGTA 0.358 PARP1 142 broad.mit.edu 37 1 226562030 226562030 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:226562030G>A uc001hqd.3 - 14 2138 c.1967C>T c.(1966-1968)ACA>ATA p.T656I NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 656 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) AGGATTTACTGTCAGCTTCTT 0.468 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA OBSCN 84033 broad.mit.edu 37 1 228434434 228434434 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:228434434C>T uc009xez.1 + 13 4007 c.3963C>T c.(3961-3963)GGC>GGT p.G1321G OBSCN_uc001hsn.2_Silent_p.G1321G NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1321 Ig-like 13. 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) AGCAGGCAGGCCAGGCAGATG 0.597 OBSCN 84033 broad.mit.edu 37 1 228468282 228468282 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:228468282G>A uc009xez.1 + 30 8026 c.7982G>A c.(7981-7983)CGC>CAC p.R2661H OBSCN_uc001hsn.2_Missense_Mutation_p.R2661H|OBSCN_uc001hsp.1_Missense_Mutation_p.R360H|OBSCN_uc001hsq.1_5'UTR NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2661 Ig-like 26. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GCAGAGGAGCGCGGCACCCTG 0.637 URB2 9816 broad.mit.edu 37 1 229770731 229770731 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:229770731G>A uc001hts.1 + 4 507 c.371G>A c.(370-372)CGA>CAA p.R124Q URB2_uc009xfd.1_Missense_Mutation_p.R124Q NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 124 nucleolus central_nervous_system(2)|ovary(1) 3 GCTGTCCTTCGATGTTGCCAG 0.498 C1orf198 84886 broad.mit.edu 37 1 230979463 230979463 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:230979463C>T uc001hub.2 - 3 608 c.564G>A c.(562-564)GCG>GCA p.A188A C1orf198_uc009xfh.1_Silent_p.A58A|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Silent_p.A150A NM_032800 NP_116189 Q9H425 CA198_HUMAN hypothetical protein LOC84886 isoform 1 188 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TCCAGAATGACGCTTCCTCCT 0.642 SIPA1L2 57568 broad.mit.edu 37 1 232581327 232581327 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:232581327C>T uc001hvg.2 - 9 3459 c.3301G>A c.(3301-3303)GCT>ACT p.A1101T SIPA1L2_uc001hvf.2_Missense_Mutation_p.A175T NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1101 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) GGAATGGCAGCCTGGGCCTGC 0.662 KIAA1804 84451 broad.mit.edu 37 1 233507898 233507898 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:233507898C>T uc001hvt.3 + 6 1928 c.1667C>T c.(1666-1668)GCC>GTC p.A556V KIAA1804_uc001hvs.1_Missense_Mutation_p.A556V NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 556 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) CGACTCCGAGCCATACAGTGT 0.547 ARID4B 51742 broad.mit.edu 37 1 235345722 235345722 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:235345722A>C uc001hwq.2 - 20 3010 c.2512T>G c.(2512-2514)TCA>GCA p.S838A ARID4B_uc001hwr.2_Missense_Mutation_p.S752A|ARID4B_uc001hws.3_Missense_Mutation_p.S752A|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.S519A NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 838 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TTGCCAGGTGATCCAGTTTTT 0.373 LYST 1130 broad.mit.edu 37 1 235840481 235840481 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:235840481A>C uc001hxj.2 - 50 11123 c.10948T>G c.(10948-10950)TAT>GAT p.Y3650D LYST_uc001hxi.2_Missense_Mutation_p.Y874D NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3650 WD 4. 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) CTTTGTACATAGCATAACCTG 0.373 Chediak-Higashi_syndrome NID1 4811 broad.mit.edu 37 1 236208817 236208817 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:236208817T>C uc001hxo.2 - 3 794 c.692A>G c.(691-693)AAG>AGG p.K231R NID1_uc009xgd.2_Missense_Mutation_p.K231R NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 231 NIDO. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TCCGTTGCTCTTCCATAAGAA 0.408 RYR2 6262 broad.mit.edu 37 1 237919637 237919637 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:237919637A>G uc001hyl.1 + 81 11315 c.11195A>G c.(11194-11196)CAC>CGC p.H3732R RYR2_uc010pya.1_Missense_Mutation_p.H147R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3732 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCCGACTCCACGATCGTGGC 0.473 RGS7 6000 broad.mit.edu 37 1 240990446 240990446 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:240990446C>A uc001hyv.2 - 10 966 c.636G>T c.(634-636)GTG>GTT p.V212V RGS7_uc010pyh.1_Silent_p.V186V|RGS7_uc010pyj.1_Silent_p.V128V|RGS7_uc001hyu.2_Silent_p.V212V|RGS7_uc009xgn.1_Silent_p.V159V|RGS7_uc001hyw.2_Silent_p.V212V|RGS7_uc001hyt.2_Silent_p.V44V NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 212 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TCTTAATGTCCACTTCAGTTG 0.403 CHML 1122 broad.mit.edu 37 1 241798364 241798364 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:241798364T>C uc001hzd.2 - 1 869 c.705A>G c.(703-705)TCA>TCG p.S235S OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 235 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) ACAGCAGTTTTGACACCAAAT 0.318 EXO1 9156 broad.mit.edu 37 1 242030359 242030359 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:242030359T>C uc001hzh.2 + 11 1807 c.1267_splice c.e11+2 p.A423_splice EXO1_uc001hzi.2_Splice_Site_p.A423_splice|EXO1_uc001hzj.2_Splice_Site_p.A423_splice|EXO1_uc009xgq.2_Splice_Site_p.E423_splice NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CAAGAAGTGGTACGTATTTCA 0.264 Direct_reversal_of_damage|Editing_and_processing_nucleases ZNF695 57116 broad.mit.edu 37 1 247150914 247150914 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:247150914A>G uc009xgu.2 - 4 1048 c.903T>C c.(901-903)TGT>TGC p.C301C ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 301 C2H2-type 6. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AGGATTTGCCACATTCTTCAC 0.358 OR2G3 81469 broad.mit.edu 37 1 247769239 247769239 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:247769239A>G uc010pyz.1 + 1 352 c.352A>G c.(352-354)ATG>GTG p.M118V NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTTGGCTGACATGGCCTTGGA 0.507 OR2W3 343171 broad.mit.edu 37 1 248059019 248059019 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:248059019C>T uc001idp.1 + 3 400 c.131C>T c.(130-132)ACC>ATC p.T44I OR2W3_uc010pzb.1_Missense_Mutation_p.T44I NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCAACACCACCATCATCCTG 0.577 OR2M5 127059 broad.mit.edu 37 1 248309326 248309326 + Missense_Mutation SNP C C A rs150445512 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:248309326C>A uc010pze.1 + 1 877 c.877C>A c.(877-879)CGC>AGC p.R293S NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CTACAGCCTCCGCAACAAGGA 0.493 OR2T27 403239 broad.mit.edu 37 1 248813394 248813394 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:248813394A>G uc010pzo.1 - 1 792 c.792T>C c.(790-792)TCT>TCC p.S264S NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 264 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGTGTGGTAAGAATGAGGCA 0.527 SH3BP5L 80851 broad.mit.edu 37 1 249107289 249107289 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:249107289C>T uc001iew.1 - 6 1162 c.610G>A c.(610-612)GCT>ACT p.A204T SH3BP5L_uc010pzp.1_Missense_Mutation_p.A97T|SH3BP5L_uc010pzq.1_Missense_Mutation_p.A172T|SH3BP5L_uc001iev.1_Missense_Mutation_p.A85T NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 204 Potential. 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CGAGCCTCAGCCTGTTGGCAC 0.637 ZMYND11 10771 broad.mit.edu 37 10 293373 293373 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:293373A>G uc010pzt.1 + 12 1622 c.1194A>G c.(1192-1194)GGA>GGG p.G398G ZMYND11_uc001ifk.2_Silent_p.G397G|ZMYND11_uc010pzu.1_Silent_p.G398G|ZMYND11_uc010pzv.1_Silent_p.G343G|ZMYND11_uc010pzw.1_Silent_p.G313G|ZMYND11_uc001ifm.2_Silent_p.G344G|ZMYND11_uc010pzx.1_Silent_p.G398G|ZMYND11_uc001ifn.2_Silent_p.G344G|ZMYND11_uc009xhg.2_Silent_p.G381G|ZMYND11_uc009xhh.2_Silent_p.G272G|ZMYND11_uc010pzy.1_Silent_p.G250G NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 358 Nuclear localization signal (Potential). cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CAAAGAAAGGACGACGTAATC 0.383 GDI2 2665 broad.mit.edu 37 10 5808594 5808594 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:5808594G>A uc001iil.3 - 9 1290 c.999C>T c.(997-999)TAC>TAT p.Y333Y GDI2_uc001iim.3_Silent_p.Y288Y|GDI2_uc009xid.2_Silent_p.Y337Y NM_001494 NP_001485 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 isoform 1 333 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity 0 TCATGCAGACGTAGATATCTA 0.448 SFMBT2 57713 broad.mit.edu 37 10 7239569 7239569 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:7239569T>G uc009xio.1 - 15 1730 c.1639A>C c.(1639-1641)AGG>CGG p.R547R SFMBT2_uc001ijn.1_Silent_p.R547R|SFMBT2_uc010qay.1_Intron NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 547 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 TCTGCAATCCTTCCTTTGTTC 0.507 ITIH2 3698 broad.mit.edu 37 10 7773852 7773852 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:7773852A>G uc001ijs.2 + 13 1702 c.1540A>G c.(1540-1542)ACT>GCT p.T514A NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 514 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 CACGGACGTCACTCAAAACAA 0.438 TAF3 83860 broad.mit.edu 37 10 8007477 8007477 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:8007477T>C uc010qbd.1 + 3 2004 c.2004T>C c.(2002-2004)CCT>CCC p.P668P NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 668 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 TGTTCAGCCCTGCCACAGCCT 0.423 UPF2 26019 broad.mit.edu 37 10 12009391 12009391 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:12009391T>C uc001ila.2 - 9 2490 c.2016A>G c.(2014-2016)GAA>GAG p.E672E UPF2_uc001ilb.2_Silent_p.E672E|UPF2_uc001ilc.2_Silent_p.E672E|UPF2_uc009xiz.1_Silent_p.E672E NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 672 MIF4G 2. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) ACTTAGTTAGTTCTCCTATAA 0.279 FAM171A1 221061 broad.mit.edu 37 10 15256119 15256119 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:15256119T>C uc001iob.2 - 8 1475 c.1468A>G c.(1468-1470)AAC>GAC p.N490D NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 490 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 AGCACGGTGTTGTAACTACCC 0.493 CUBN 8029 broad.mit.edu 37 10 17113596 17113596 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:17113596C>A uc001ioo.2 - 19 2506 c.2454G>T c.(2452-2454)GGG>GGT p.G818G NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 818 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTAATTCATCCCCGCAAGCTG 0.408 GPR158 57512 broad.mit.edu 37 10 25887406 25887406 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:25887406A>G uc001isj.2 + 11 2911 c.2851A>G c.(2851-2853)ACA>GCA p.T951A GPR158_uc001isk.2_Missense_Mutation_p.T326A NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 951 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TTCTGATAACACAGAGACTAA 0.443 APBB1IP 54518 broad.mit.edu 37 10 26789948 26789948 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:26789948A>G uc001iss.2 + 5 682 c.361A>G c.(361-363)ATC>GTC p.I121V APBB1IP_uc001isr.2_Missense_Mutation_p.I121V|APBB1IP_uc009xks.1_Missense_Mutation_p.I121V NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 121 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 TGCCACTGGTATCAGCCAATA 0.478 KIF5B 3799 broad.mit.edu 37 10 32306209 32306209 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:32306209T>C uc001iwe.3 - 24 3093 c.2623A>G c.(2623-2625)AAA>GAA p.K875E NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 875 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) TCCAAAGCTTTCACTCTCTCA 0.433 NRP1 8829 broad.mit.edu 37 10 33552726 33552726 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:33552726T>C uc001iwx.3 - 4 1029 c.506A>G c.(505-507)AAC>AGC p.N169S NRP1_uc001iwv.3_Missense_Mutation_p.N169S|NRP1_uc009xlz.2_Missense_Mutation_p.N169S|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.N169S|NRP1_uc001iwz.2_Missense_Mutation_p.N169S|NRP1_uc001ixa.2_Missense_Mutation_p.N169S|NRP1_uc001ixb.1_Missense_Mutation_p.N169S|NRP1_uc001ixc.1_Missense_Mutation_p.N169S NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 169 Extracellular (Potential).|CUB 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) TTCAAGGCTGTTGGGATATTT 0.438 GJD4 219770 broad.mit.edu 37 10 35896701 35896701 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:35896701T>C uc001iyy.1 + 2 418 c.260T>C c.(259-261)CTC>CCC p.L87P NM_153368 NP_699199 Q96KN9 CXD4_HUMAN connexin40.1 87 Helical; (Potential). cell communication connexon complex|integral to membrane large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TGCGTCCTCCTCCCCTCCGCC 0.706 C10orf25 220979 broad.mit.edu 37 10 45496198 45496198 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:45496198T>C uc001jbv.1 - 1 139 c.110A>G c.(109-111)AAC>AGC p.N37S C10orf25_uc010qff.1_RNA|ZNF22_uc001jbw.2_5'Flank NM_001039380 NP_001034469 Q5T742 CJ025_HUMAN hypothetical protein LOC220979 precursor 37 extracellular region 0 ACAGGGGCGGTTACAGCTCTT 0.517 ALOX5 240 broad.mit.edu 37 10 45938585 45938585 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:45938585C>T uc001jce.2 + 10 1471 c.1372C>T c.(1372-1374)CGG>TGG p.R458W ALOX5_uc009xmt.2_Missense_Mutation_p.R426W|ALOX5_uc010qfg.1_Missense_Mutation_p.R458W NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 458 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CATCAAGGCCCGGGGCATGGA 0.657 SYT15 83849 broad.mit.edu 37 10 46969273 46969273 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:46969273G>A uc001jea.2 - 2 341 c.188C>T c.(187-189)CCG>CTG p.P63L SYT15_uc001jdz.2_Missense_Mutation_p.P63L|SYT15_uc001jeb.2_Intron|SYT15_uc010qfp.1_5'Flank NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 63 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 CCTAGCATGCGGCTGGCAGGG 0.612 ERCC6 2074 broad.mit.edu 37 10 50732687 50732687 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:50732687G>A uc001jhs.3 - 5 943 c.789C>T c.(787-789)ATC>ATT p.I263I PGBD3_uc001jht.2_5'Flank|PGBD3_uc009xoe.2_Silent_p.I263I|PGBD3_uc001jhu.2_Silent_p.I263I NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 263 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 CATTAAGCATGATTTTTCTGG 0.448 Direct_reversal_of_damage|NER CISD1 55847 broad.mit.edu 37 10 60036948 60036948 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:60036948T>C uc001jkc.3 + 2 242 c.103T>C c.(103-105)TAT>CAT p.Y35H NM_018464 NP_060934 Q9NZ45 CISD1_HUMAN CDGSH iron sulfur domain 1 35 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane 2 iron, 2 sulfur cluster binding|metal ion binding 0 CAAAAGATTTTATGTTAAAGA 0.378 ANK3 288 broad.mit.edu 37 10 61827769 61827769 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:61827769T>C uc001jky.2 - 38 12437 c.12245_splice c.e38-1 p.G4082_splice ANK3_uc001jkw.2_Splice_Site_p.S603_splice|ANK3_uc009xpa.2_Splice_Site_p.S603_splice|ANK3_uc001jkx.2_Splice_Site_p.S647_splice|ANK3_uc010qih.1_Splice_Site_p.S1470_splice|ANK3_uc001jkz.3_Splice_Site_p.S1463_splice|ANK3_uc001jkv.2_Splice_Site_p.S2_splice|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TCTGTGGACCTACGATTTACA 0.393 EGR2 1959 broad.mit.edu 37 10 64573620 64573620 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:64573620G>A uc010qim.1 - 3 932 c.778C>T c.(778-780)CCT>TCT p.P260S EGR2_uc010qin.1_Missense_Mutation_p.P210S|EGR2_uc001jmi.2_Missense_Mutation_p.P260S|EGR2_uc010qio.1_Missense_Mutation_p.P273S|EGR2_uc009xph.2_Missense_Mutation_p.P260S NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 260 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GTGAGTGGAGGGGGCACCCGC 0.632 CTNNA3 29119 broad.mit.edu 37 10 67829230 67829230 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:67829230C>A uc009xpn.1 - 15 2118 c.1995G>T c.(1993-1995)CTG>CTT p.L665L CTNNA3_uc001jmw.2_Silent_p.L665L NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 665 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CTGCCTCAGGCAGTTGAGTCA 0.348 CCAR1 55749 broad.mit.edu 37 10 70509441 70509441 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:70509441T>C uc001joo.2 + 10 1236 c.1117T>C c.(1117-1119)TGT>CGT p.C373R CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.C178R|CCAR1_uc009xpx.1_Missense_Mutation_p.C347R|CCAR1_uc001jon.1_Missense_Mutation_p.C319R|CCAR1_uc010qiz.1_Missense_Mutation_p.C358R|CCAR1_uc010qja.1_Missense_Mutation_p.C358R|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 373 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 TTCTTTAGATTGGTAGGTTAT 0.403 KIAA1279 26128 broad.mit.edu 37 10 70768669 70768669 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:70768669G>A uc001joy.2 + 5 958 c.862G>A c.(862-864)GCC>ACC p.A288T NM_015634 NP_056449 Q96EK5 KBP_HUMAN KIF1 binding protein 288 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding ovary(1) 1 AAAGATCTCAGCCACAGAAGA 0.284 HKDC1 80201 broad.mit.edu 37 10 71026488 71026488 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:71026488T>C uc001jpf.3 + 18 2862 c.2729T>C c.(2728-2730)TTA>TCA p.L910S HKDC1_uc010qje.1_Missense_Mutation_p.L773S|HKDC1_uc009xqb.2_RNA NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 910 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 GCCAAGAGGTTACAGCAGGCA 0.512 CDH23 64072 broad.mit.edu 37 10 73405660 73405660 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:73405660G>A uc001jrx.3 + 12 1590 c.1213G>A c.(1213-1215)GTC>ATC p.V405I CDH23_uc001jrw.3_Missense_Mutation_p.V405I|CDH23_uc001jry.2_Missense_Mutation_p.V21I|CDH23_uc001jrz.2_Missense_Mutation_p.V21I NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 405 Cadherin 4.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CCCGACCTCCGTCCAGGGGAA 0.567 CDH23 64072 broad.mit.edu 37 10 73491866 73491866 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:73491866A>G uc001jrx.3 + 31 4215 c.3838A>G c.(3838-3840)ATG>GTG p.M1280V CDH23_uc001jrz.2_Missense_Mutation_p.M896V|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.M88V NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1280 Cadherin 12.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GACCAGCTACATGATGAATGT 0.572 CDH23 64072 broad.mit.edu 37 10 73571099 73571099 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:73571099G>A uc001jrx.3 + 61 9482 c.9105G>A c.(9103-9105)AAG>AAA p.K3035K CDH23_uc001jsg.3_Silent_p.K795K|CDH23_uc001jsh.3_Silent_p.K795K|CDH23_uc001jsi.3_Silent_p.K795K|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 3035 Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ATGAGAACAAGGAGCAGCTAC 0.607 OIT3 170392 broad.mit.edu 37 10 74684031 74684031 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:74684031A>G uc001jte.1 + 7 1214 c.996A>G c.(994-996)CTA>CTG p.L332L OIT3_uc009xqs.1_Intron NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 332 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) TGACAGGTCTACCCAAGCAGA 0.552 USP54 159195 broad.mit.edu 37 10 75279629 75279629 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:75279629C>T uc001juo.2 - 17 2621 c.2604G>A c.(2602-2604)CAG>CAA p.Q868Q USP54_uc010qkk.1_Silent_p.Q50Q|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Intron|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Silent_p.Q868Q NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 868 Poly-Gln. ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) GTGGTGATTGCTGCTGCTGCA 0.557 SYNPO2L 79933 broad.mit.edu 37 10 75407636 75407636 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:75407636C>T uc001jut.3 - 4 1926 c.1774G>A c.(1774-1776)GCG>ACG p.A592T SYNPO2L_uc001jus.3_Missense_Mutation_p.A368T NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 592 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) TCTGGGCGCGCAGAGGGTCGC 0.692 POLR3A 11128 broad.mit.edu 37 10 79761979 79761979 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:79761979T>C uc001jzn.2 - 17 2429 c.2335A>G c.(2335-2337)ACC>GCC p.T779A NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 779 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGAGCCATGGTGAGGGGGCTG 0.582 GRID1 2894 broad.mit.edu 37 10 87484209 87484209 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:87484209T>C uc001kdl.1 - 11 1859 c.1758A>G c.(1756-1758)ATA>ATG p.I586M GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.I157M NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 586 Cytoplasmic (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TCACAGCCTGTATCCTGTTCA 0.552 Multiple Myeloma(13;0.14) GLUD1 2746 broad.mit.edu 37 10 88820800 88820800 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:88820800T>C uc001keh.2 - 7 1028 c.931A>G c.(931-933)AAT>GAT p.N311D GLUD1_uc001keg.2_Missense_Mutation_p.N144D|GLUD1_uc010qmp.1_Missense_Mutation_p.N178D NM_005271 NP_005262 P00367 DHE3_HUMAN glutamate dehydrogenase 1 precursor 311 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding 0 L-Glutamic Acid(DB00142)|NADH(DB00157) AGGCCCACATTACCAAATCCC 0.373 STAMBPL1 57559 broad.mit.edu 37 10 90665321 90665321 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:90665321A>G uc001kfk.2 + 3 575 c.152A>G c.(151-153)TAC>TGC p.Y51C STAMBPL1_uc010qmx.1_Missense_Mutation_p.Y51C|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Missense_Mutation_p.Y51C|STAMBPL1_uc001kfm.2_5'Flank NM_020799 NP_065850 Q96FJ0 STALP_HUMAN STAM binding protein-like 1 51 metal ion binding|metallopeptidase activity|protein binding ovary(1) 1 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) CCACGACGTTACTTTAGGTCT 0.418 NOC3L 64318 broad.mit.edu 37 10 96117944 96117944 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:96117944T>C uc001kjq.1 - 3 334 c.246A>G c.(244-246)GAA>GAG p.E82E NOC3L_uc009xuk.1_5'UTR NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 82 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) CTTCTTCTTCTTCCTCTTCTT 0.358 CYP2C19 1557 broad.mit.edu 37 10 96541727 96541727 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:96541727T>C uc010qnz.1 + 5 792 c.792T>C c.(790-792)ATT>ATC p.I264I CYP2C19_uc009xus.1_Silent_p.I129I|CYP2C19_uc010qny.1_Silent_p.I242I NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 264 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GGGACTTTATTGATTGCTTCC 0.338 TM9SF3 56889 broad.mit.edu 37 10 98292872 98292872 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:98292872A>G uc001kmm.3 - 10 1478 c.1261T>C c.(1261-1263)TCA>CCA p.S421P TM9SF3_uc010qot.1_Missense_Mutation_p.S421P NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 421 integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) GGCTGACCTGACAGATTTCGG 0.388 PYROXD2 84795 broad.mit.edu 37 10 100167414 100167414 + Splice_Site SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:100167414T>G uc001kpc.2 - 4 328 c.242_splice c.e4-1 p.G81_splice PYROXD2_uc001kpb.2_Splice_Site|PYROXD2_uc001kpd.2_Splice_Site|PYROXD2_uc010qpe.1_Splice_Site_p.G81_splice NM_032709 NP_116098 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase oxidoreductase activity central_nervous_system(1) 1 ACTTAAACCCTGAAACCGAAT 0.622 CPN1 1369 broad.mit.edu 37 10 101841235 101841235 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:101841235T>G uc001kql.2 - 1 408 c.148A>C c.(148-150)AGC>CGC p.S50R NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 50 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CGCCCAATGCTGTAGACCCGC 0.592 GBF1 8729 broad.mit.edu 37 10 104117861 104117861 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:104117861G>A uc001kux.1 + 9 945 c.705G>A c.(703-705)CGG>CGA p.R235R GBF1_uc001kuw.2_Silent_p.R235R|GBF1_uc001kuy.1_Silent_p.R235R|GBF1_uc001kuz.1_Silent_p.R235R NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 235 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GATCCCCTCGGCCCCCACGCC 0.498 NT5C2 22978 broad.mit.edu 37 10 104860806 104860806 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:104860806T>C uc001kwo.2 - 8 721 c.535A>G c.(535-537)ACC>GCC p.T179A NT5C2_uc010qqp.1_Missense_Mutation_p.T150A|NT5C2_uc001kwq.2_Missense_Mutation_p.T179A|NT5C2_uc001kwp.2_Translation_Start_Site NM_012229 NP_036361 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 179 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding 0 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) ACATACCTGGTATATCTGGGA 0.303 NHLRC2 374354 broad.mit.edu 37 10 115639427 115639427 + Silent SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:115639427A>T uc001lax.1 + 4 1094 c.882A>T c.(880-882)GCA>GCT p.A294A NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 294 NHL 2. cell redox homeostasis ovary(1) 1 Epithelial(162;0.017)|all cancers(201;0.0187) TATATGTGGCAGACACTGAAA 0.289 ATRNL1 26033 broad.mit.edu 37 10 116881571 116881571 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:116881571A>G uc001lcg.2 + 3 872 c.486A>G c.(484-486)GTA>GTG p.V162V ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Silent_p.V162V|ATRNL1_uc009xyq.2_Silent_p.V162V NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 162 CUB.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TAATAGCTGTACTTAGGTGAG 0.284 KCNK18 338567 broad.mit.edu 37 10 118960795 118960795 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:118960795G>A uc010qsr.1 + 2 349 c.349G>A c.(349-351)GTG>ATG p.V117M NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 117 integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) GTTCAGCACCGTGGGTAAGTG 0.562 INPP5F 22876 broad.mit.edu 37 10 121587268 121587268 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:121587268C>T uc001leo.2 + 20 3541 c.3375C>T c.(3373-3375)TGC>TGT p.C1125C INPP5F_uc001lep.2_Silent_p.C515C NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 1125 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) TTATACAATGCCAGACACGGA 0.328 TACC2 10579 broad.mit.edu 37 10 123971212 123971212 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:123971212G>A uc001lfv.2 + 9 7632 c.7272G>A c.(7270-7272)ACG>ACA p.T2424T TACC2_uc001lfw.2_Silent_p.T570T|TACC2_uc009xzx.2_Silent_p.T2379T|TACC2_uc010qtv.1_Silent_p.T2428T|TACC2_uc001lfx.2_Silent_p.T128T|TACC2_uc001lfy.2_Silent_p.T128T|TACC2_uc001lfz.2_Silent_p.T502T|TACC2_uc001lga.2_Silent_p.T502T|TACC2_uc009xzy.2_Silent_p.T502T|TACC2_uc001lgb.2_Silent_p.T459T|TACC2_uc010qtw.1_Silent_p.T519T NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2424 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) AGAAGAAGACGCCCCTAAAGA 0.557 CTBP2 1488 broad.mit.edu 37 10 126683183 126683183 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:126683183T>C uc009yak.2 - 7 922 c.635A>G c.(634-636)TAC>TGC p.Y212C CTBP2_uc009yal.2_Missense_Mutation_p.Y212C|CTBP2_uc001lif.3_Missense_Mutation_p.Y212C|CTBP2_uc001lih.3_Missense_Mutation_p.Y212C|CTBP2_uc001lid.3_Missense_Mutation_p.Y280C|CTBP2_uc001lie.3_Missense_Mutation_p.Y752C NM_001329 NP_001320 P56545 CTBP2_HUMAN C-terminal binding protein 2 isoform 1 212 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding 0 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) ATCCTGCAAGTAGGGGTCATA 0.567 UROS 7390 broad.mit.edu 37 10 127504804 127504804 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:127504804G>A uc001liw.3 - 2 222 c.89C>T c.(88-90)GCC>GTC p.A30V UROS_uc001liv.3_5'Flank|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.A30V|UROS_uc001liy.3_RNA|UROS_uc001liz.2_5'Flank NM_000375 NP_000366 P10746 HEM4_HUMAN uroporphyrinogen III synthase 30 heme biosynthetic process|uroporphyrinogen III biosynthetic process cytosol|mitochondrion uroporphyrinogen-III synthase activity 0 all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203) GATCAAAGTGGCTTCAAGTCC 0.368 BNIP3 664 broad.mit.edu 37 10 133784230 133784230 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:133784230T>C uc001lkv.1 - 5 577 c.451A>G c.(451-453)ATG>GTG p.M151V BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.M151V NM_004052 NP_004043 Q12983 BNIP3_HUMAN BCL2/adenovirus E1B 19kD-interacting protein 3 151 cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm GTPase binding|protein heterodimerization activity|protein homodimerization activity lung(1)|skin(1) 2 all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203) Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CCTTTCTTCATGACGCTCGTG 0.522 C10orf91 170393 broad.mit.edu 37 10 134261301 134261301 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:134261301A>G uc001llm.2 + 3 214 c.174A>G c.(172-174)AAA>AAG p.K58K NM_173541 NP_775812 Q5T1B1 CJ091_HUMAN hypothetical protein LOC170393 58 ovary(1) 1 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) TCACAGAGAAACCTCAGACAA 0.567 ADAM8 101 broad.mit.edu 37 10 135083930 135083930 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:135083930C>T uc010qva.1 - 15 1653 c.1602G>A c.(1600-1602)GCG>GCA p.A534A ADAM8_uc010quz.1_Silent_p.A573A|ADAM8_uc009ybi.2_Silent_p.A573A P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 534 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) CTGTGGTGAGCGCGTGGCACA 0.667 TUBGCP2 10844 broad.mit.edu 37 10 135106172 135106172 + Missense_Mutation SNP C C T rs145003131 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:135106172C>T uc001lmg.1 - 8 1402 c.1045G>A c.(1045-1047)GAA>AAA p.E349K TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Missense_Mutation_p.E377K|TUBGCP2_uc009ybk.1_Missense_Mutation_p.E349K|TUBGCP2_uc010qvd.1_Missense_Mutation_p.E219K|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 349 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CCAAGACATTCGCCTTTGTCC 0.627 LRDD 55367 broad.mit.edu 37 11 802043 802043 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:802043G>A uc001lro.1 - 7 1366 c.1224C>T c.(1222-1224)TGC>TGT p.C408C LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.C408C|LRDD_uc001lrl.1_Silent_p.C262C|LRDD_uc001lrm.1_Silent_p.C95C|LRDD_uc001lrn.1_Silent_p.C262C|LRDD_uc001lrp.1_5'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 408 ZU5 1. apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCACTTCACGGCAGCGCCGGG 0.672 AP2A2 161 broad.mit.edu 37 11 959505 959505 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:959505G>T uc001lss.2 + 2 317 c.136G>T c.(136-138)GGT>TGT p.G46C AP2A2_uc001lst.1_Missense_Mutation_p.G46C|AP2A2_uc009yco.1_RNA NM_012305 NP_036437 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 46 Lipid-binding. axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity 0 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) AAAATTTAAAGGTAAGTATGT 0.289 SYT8 90019 broad.mit.edu 37 11 1858627 1858627 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:1858627G>A uc001lue.1 + 9 1300 c.1172G>A c.(1171-1173)CGC>CAC p.R391H SYT8_uc001lud.2_Missense_Mutation_p.R391H|SYT8_uc001luf.1_Missense_Mutation_p.R377H|TNNI2_uc010qxc.1_5'Flank|TNNI2_uc010qxd.1_5'Flank|TNNI2_uc010qxe.1_5'Flank NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN synaptotagmin VIII 391 Cytoplasmic (Potential). acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CTGCAGCCCCGCCTTCGCCTG 0.726 TH 7054 broad.mit.edu 37 11 2192945 2192945 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:2192945C>T uc001lvq.2 - 1 91 c.72G>A c.(70-72)AAG>AAA p.K24K TH_uc001lvp.2_Silent_p.K24K|TH_uc001lvr.2_Silent_p.K24K|TH_uc010qxj.1_Silent_p.K24K|TH_uc001lvs.2_Silent_p.K24K|TH_uc001lvt.2_Silent_p.K24K NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 24 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) CCTCTGCCTGCTTGGCGTCCA 0.701 OSBPL5 114879 broad.mit.edu 37 11 3141754 3141754 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:3141754G>A uc001lxk.2 - 6 661 c.503C>T c.(502-504)ACG>ATG p.T168M OSBPL5_uc010qxq.1_Intron|OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.2_Missense_Mutation_p.T192M NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 168 PH. cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CAGCAGCACCGTGCCCACCCA 0.647 ZNF195 7748 broad.mit.edu 37 11 3380779 3380779 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:3380779T>C uc001lxt.2 - 6 1637 c.1459A>G c.(1459-1461)ACT>GCT p.T487A uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.T464A|ZNF195_uc001lxs.2_Missense_Mutation_p.T415A|ZNF195_uc010qxr.1_Missense_Mutation_p.T468A|ZNF195_uc009ydz.2_Missense_Mutation_p.T442A|ZNF195_uc001lxu.2_Missense_Mutation_p.T419A NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 487 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TCAGAATGAGTTCTCTTATGG 0.428 OR51B2 79345 broad.mit.edu 37 11 5345074 5345074 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:5345074C>T uc001mao.1 - 1 509 c.454G>A c.(454-456)GTA>ATA p.V152I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGATGGATACAAAACCCCTT 0.403 OR51I1 390063 broad.mit.edu 37 11 5462728 5462728 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:5462728C>T uc010qze.1 - 1 17 c.17G>A c.(16-18)GGC>GAC p.G6D HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGGGGTGCCATTGAGACC 0.507 APBB1 322 broad.mit.edu 37 11 6432080 6432080 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:6432080A>T uc001mdb.1 - 2 598 c.498T>A c.(496-498)GAT>GAA p.D166E APBB1_uc001mdc.1_Missense_Mutation_p.D166E|APBB1_uc010rah.1_Intron NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 166 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) cctcctcttcatcatcatcat 0.408 OR2AG2 338755 broad.mit.edu 37 11 6789258 6789258 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:6789258G>A uc001meq.1 - 1 931 c.931C>T c.(931-933)CTG>TTG p.L311L NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 311 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAATGTGCCAGCAGTATGTAT 0.483 OLFML1 283298 broad.mit.edu 37 11 7531212 7531212 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:7531212G>T uc001mfi.2 + 3 1354 c.1002G>T c.(1000-1002)GGG>GGT p.G334G OLFML1_uc010raz.1_Silent_p.G198G|OLFML1_uc010rba.1_Silent_p.G334G NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 precursor 334 Olfactomedin-like. extracellular region ovary(2) 2 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) ACAGTACTGGGGGCCAGGGCC 0.542 CYB5R2 51700 broad.mit.edu 37 11 7687700 7687700 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:7687700G>T uc001mfm.2 - 8 878 c.640C>A c.(640-642)CTG>ATG p.L214M CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Missense_Mutation_p.L214M NM_016229 NP_057313 Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase b5R.2 214 sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity 0 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGCCTGTCCAGGGTGTACCAC 0.498 OREG0020724 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SCUBE2 57758 broad.mit.edu 37 11 9096091 9096091 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:9096091A>G uc001mhh.1 - 4 534 c.454T>C c.(454-456)TGC>CGC p.C152R SCUBE2_uc001mhi.1_Missense_Mutation_p.C152R|SCUBE2_uc001mhj.1_Missense_Mutation_p.C152R NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 152 EGF-like 3; calcium-binding (Potential). extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) TTGCAGCAGCACTCATAGCTC 0.567 ZNF143 7702 broad.mit.edu 37 11 9530309 9530309 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:9530309A>G uc001mhr.2 + 12 1409 c.1291A>G c.(1291-1293)ACG>GCG p.T431A ZNF143_uc009yfu.2_Missense_Mutation_p.T430A|ZNF143_uc010rby.1_Missense_Mutation_p.T400A NM_003442 NP_003433 P52747 ZN143_HUMAN zinc finger protein 143 431 C2H2-type 7. regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding 0 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) GCAGATCTCCACGCTGGCCAT 0.493 FAR1 84188 broad.mit.edu 37 11 13732384 13732384 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:13732384G>A uc001mld.2 + 5 845 c.690G>A c.(688-690)TCG>TCA p.S230S FAR1_uc009ygp.2_Silent_p.S230S NM_032228 NP_115604 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 230 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding ovary(1)|skin(1) 2 TAAGGCCATCGATTGTTGGTG 0.343 MRGPRX3 117195 broad.mit.edu 37 11 18159005 18159005 + Missense_Mutation SNP C C T rs141255495 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:18159005C>T uc001mnu.2 + 3 617 c.256C>T c.(256-258)CGC>TGC p.R86C NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 86 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 TTCGCCGTTACGCCTCATCAA 0.547 SLC6A5 9152 broad.mit.edu 37 11 20622906 20622906 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:20622906T>C uc001mqd.2 + 2 508 c.235T>C c.(235-237)TCT>CCT p.S79P SLC6A5_uc009yic.2_5'UTR NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 79 Cytoplasmic (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) AGGAGTGGGGTCTTGCAAACT 0.726 LUZP2 338645 broad.mit.edu 37 11 24518834 24518834 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:24518834G>A uc001mqs.2 + 1 279 c.45G>A c.(43-45)GCG>GCA p.A15A LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Silent_p.A15A NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 15 extracellular region ovary(1)|skin(1) 2 TCCTGCCTGCGCTGGTCCTCA 0.662 BDNF 627 broad.mit.edu 37 11 27679694 27679694 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:27679694C>T uc010rdu.1 - 2 1269 c.418G>A c.(418-420)GTG>ATG p.V140M BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Missense_Mutation_p.V140M|BDNF_uc001mrt.2_Missense_Mutation_p.V155M|BDNF_uc010rdw.1_Missense_Mutation_p.V140M|BDNF_uc009yjd.2_Missense_Mutation_p.V140M|BDNF_uc001mru.2_Missense_Mutation_p.V140M|BDNF_uc010rdx.1_Missense_Mutation_p.V140M|BDNF_uc010rdy.1_Missense_Mutation_p.V140M|BDNF_uc009yjg.2_Missense_Mutation_p.V140M|BDNF_uc009yje.2_Missense_Mutation_p.V222M|BDNF_uc009yjf.2_Missense_Mutation_p.V169M|BDNF_uc001mrv.2_Missense_Mutation_p.V140M|BDNF_uc001mrw.3_Missense_Mutation_p.V140M|BDNF_uc001mrx.2_Missense_Mutation_p.V140M|BDNF_uc001mry.3_Missense_Mutation_p.V140M|BDNF_uc001mrz.3_Missense_Mutation_p.V140M|BDNF_uc001msa.2_Missense_Mutation_p.V148M NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 140 extracellular region growth factor activity 0 CTGTCACACACGCTCAGCTCC 0.542 CAT 847 broad.mit.edu 37 11 34470818 34470818 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:34470818C>A uc001mvm.2 + 2 229 c.146C>A c.(145-147)CCC>CAC p.P49H CAT_uc009ykc.1_RNA NM_001752 NP_001743 P04040 CATA_HUMAN catalase 49 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity ovary(2)|pancreas(1) 3 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) CCCCGTGGGCCCCTTCTTGTT 0.468 RAG2 5897 broad.mit.edu 37 11 36615184 36615184 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:36615184G>T uc001mwv.3 - 2 723 c.535C>A c.(535-537)CTG>ATG p.L179M C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 179 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) ACACAGGGCAGGCAGTCAGCT 0.453 Familial_Hemophagocytic_Lymphohistiocytosis CREB3L1 90993 broad.mit.edu 37 11 46338915 46338915 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:46338915G>A uc001ncf.2 + 10 1570 c.1135G>A c.(1135-1137)GCA>ACA p.A379T CREB3L1_uc001ncg.2_Missense_Mutation_p.A13T NM_052854 NP_443086 Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 379 Helical; Signal-anchor for type II membrane protein; (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) soft_tissue(6)|ovary(2) 8 GBM - Glioblastoma multiforme(35;0.0285) CTACCAGGTGGCAGCCTTGTG 0.617 T FUS myxofibrosarcoma LRP4 4038 broad.mit.edu 37 11 46917831 46917831 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:46917831C>A uc001ndn.3 - 9 1124 c.978G>T c.(976-978)GGG>GGT p.G326G NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 326 Extracellular (Potential).|LDL-receptor class A 8. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) GCTTCCTCTGCCCAATGCAGC 0.607 MYBPC3 4607 broad.mit.edu 37 11 47353733 47353733 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:47353733A>G uc001nfa.3 - 32 3759 c.3704T>C c.(3703-3705)GTG>GCG p.V1235A NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 1234 Ig-like C2-type 7. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) CAGAGTCAACACTCCCTGCTT 0.557 FOLH1 2346 broad.mit.edu 37 11 49208219 49208219 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:49208219C>T uc001ngy.2 - 5 877 c.616G>A c.(616-618)GGG>AGG p.G206R FOLH1_uc001ngz.2_Missense_Mutation_p.G206R|FOLH1_uc009yly.2_Missense_Mutation_p.G191R|FOLH1_uc009ylz.2_Missense_Mutation_p.G191R|FOLH1_uc009yma.2_5'UTR NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 206 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) AAAACTTTCCCATATCTGGCA 0.338 OR4S2 219431 broad.mit.edu 37 11 55418630 55418630 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:55418630T>C uc001nhs.1 + 1 251 c.251T>C c.(250-252)TTA>TCA p.L84S NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) GTTGACCTGTTAGCAAAGGAC 0.418 OR5M9 390162 broad.mit.edu 37 11 56230509 56230509 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:56230509G>A uc010rjj.1 - 1 369 c.369C>T c.(367-369)GCC>GCT p.A123A NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GGTTGCAGCCGGCCATGTACC 0.483 APLNR 187 broad.mit.edu 37 11 57003943 57003943 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:57003943A>G uc001njo.2 - 1 985 c.536T>C c.(535-537)GTG>GCG p.V179A APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 179 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 GTAGCACTGCACCTTAGTGGT 0.637 OR10Q1 219960 broad.mit.edu 37 11 57995687 57995687 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:57995687C>T uc010rkd.1 - 1 661 c.661G>A c.(661-663)GTC>ATC p.V221I NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 221 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) ACGTAGGAGACGCAGATGAGC 0.642 CNTF 1270 broad.mit.edu 37 11 58391580 58391580 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:58391580A>G uc001nna.3 + 2 268 c.188A>G c.(187-189)CAG>CGG p.Q63R ZFP91-CNTF_uc010rkm.1_RNA NM_000614 NP_000605 P26441 CNTF_HUMAN ciliary neurotrophic factor 63 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AGCACTGATCAGTGGAGTGAG 0.537 CD6 923 broad.mit.edu 37 11 60777101 60777101 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:60777101T>A uc001nqq.2 + 5 1062 c.839T>A c.(838-840)GTA>GAA p.V280E CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Missense_Mutation_p.V280E|CD6_uc001nqr.2_Missense_Mutation_p.V280E|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.V280E NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 280 SRCR 3.|Extracellular (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 CAGGTGGAGGTACACTTCCGA 0.627 CD5 921 broad.mit.edu 37 11 60885876 60885876 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:60885876C>T uc009ynk.2 + 3 427 c.324C>T c.(322-324)TAC>TAT p.Y108Y NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 108 Extracellular (Potential).|SRCR 1. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) TCATCTGCTACGGACAACTGG 0.562 DAGLA 747 broad.mit.edu 37 11 61490373 61490373 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:61490373T>C uc001nsa.2 + 4 461 c.350T>C c.(349-351)GTC>GCC p.V117A NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 117 Helical; (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) GTGGGCATCGTCTGGCTCACT 0.612 FADS2 9415 broad.mit.edu 37 11 61632650 61632650 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:61632650A>G uc001nsl.1 + 11 1334 c.1184A>G c.(1183-1185)AAC>AGC p.N395S FADS2_uc001nsj.2_Missense_Mutation_p.N373S|FADS2_uc010rlo.1_Missense_Mutation_p.N364S NM_004265 NP_004256 O95864 FADS2_HUMAN fatty acid desaturase 2 395 Cytoplasmic (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding ovary(1)|pancreas(1) 2 Alpha-Linolenic Acid(DB00132) CCCCGGCACAACTTACACAAG 0.602 INCENP 3619 broad.mit.edu 37 11 61908215 61908215 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:61908215C>T uc001nsw.1 + 9 1585 c.1383C>T c.(1381-1383)GAC>GAT p.D461D INCENP_uc009ynw.1_Silent_p.D461D|INCENP_uc001nsx.1_Silent_p.D461D NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 461 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 GTGAGCTGGACGAGGAGCAGC 0.687 AHNAK 79026 broad.mit.edu 37 11 62301479 62301479 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:62301479T>C uc001ntl.2 - 5 710 c.410A>G c.(409-411)GAT>GGT p.D137G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 137 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTCCACTCCATCTTCCGACTT 0.602 RARRES3 5920 broad.mit.edu 37 11 63312165 63312165 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:63312165G>A uc001nxf.3 + 3 259 c.191G>A c.(190-192)CGC>CAC p.R64H NM_004585 NP_004576 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene 64 lipid catabolic process|negative regulation of cell proliferation hydrolase activity ovary(1) 1 AAACGGGAGCGCCTGGAAGAT 0.582 PYGM 5837 broad.mit.edu 37 11 64527327 64527327 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:64527327C>T uc001oax.3 - 1 861 c.44G>A c.(43-45)AGT>AAT p.S15N PYGM_uc001oay.3_Missense_Mutation_p.S15N NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 15 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) GCCACGCACACTGATTTGCTT 0.597 CAPN1 823 broad.mit.edu 37 11 64972271 64972271 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:64972271G>A uc009yqd.1 + 11 1394 c.1283G>A c.(1282-1284)CGT>CAT p.R428H CAPN1_uc001odf.1_Missense_Mutation_p.R428H|CAPN1_uc001odg.1_Missense_Mutation_p.R428H|CAPN1_uc010roa.1_Missense_Mutation_p.R169H NM_005186 NP_005177 P07384 CAN1_HUMAN calpain 1, large subunit 428 Domain III. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding ovary(1) 1 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) CAGAAGCACCGTCGCCGCGAG 0.637 OREG0021073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FRMD8 83786 broad.mit.edu 37 11 65172535 65172535 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:65172535G>T uc001odu.3 + 10 1464 c.1272G>T c.(1270-1272)GAG>GAT p.E424D FRMD8_uc009yqj.2_Missense_Mutation_p.E368D|FRMD8_uc010rof.1_Missense_Mutation_p.E390D NM_031904 NP_114110 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 424 cytoskeleton binding lung(1)|pancreas(1) 2 ACTACGTGGAGGACGGTGAGC 0.632 SCYL1 57410 broad.mit.edu 37 11 65298114 65298114 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:65298114C>T uc001oea.1 + 7 941 c.864C>T c.(862-864)GCC>GCT p.A288A SCYL1_uc009yqk.2_Silent_p.A288A|SCYL1_uc001oeb.1_Silent_p.A288A|SCYL1_uc001oec.1_Silent_p.A288A|SCYL1_uc001oed.1_Silent_p.A145A|SCYL1_uc001oee.1_5'UTR NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A 288 Protein kinase. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 AAGAGCCAGCCGAGAAGCAAA 0.582 SART1 9092 broad.mit.edu 37 11 65729303 65729303 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:65729303G>A uc001ogl.2 + 1 144 c.52G>A c.(52-54)GCG>ACG p.A18T SART1_uc009yqy.1_Missense_Mutation_p.A18T|SART1_uc010rot.1_5'UTR NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 18 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 cgggacgacggcggcggccgg 0.264 SART1 9092 broad.mit.edu 37 11 65746378 65746378 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:65746378A>G uc001ogl.2 + 19 2469 c.2377A>G c.(2377-2379)ATG>GTG p.M793V NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 793 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 CGGCAAGAGCATGAACGCGTG 0.542 CATSPER1 117144 broad.mit.edu 37 11 65788382 65788382 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:65788382G>A uc001ogt.2 - 6 1965 c.1827C>T c.(1825-1827)GAC>GAT p.D609D NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 609 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 AGCGCTTGGGGTCAGATTTGC 0.602 SLC29A2 3177 broad.mit.edu 37 11 66136862 66136862 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:66136862G>T uc001oht.2 - 3 482 c.253C>A c.(253-255)CTC>ATC p.L85I SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Missense_Mutation_p.L85I|SLC29A2_uc001ohv.2_Missense_Mutation_p.L85I|uc001ohw.1_RNA NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 85 Helical; (Potential). cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 AAGGAGTTGAGGAGGGTGAAG 0.647 SPTBN2 6712 broad.mit.edu 37 11 66472378 66472378 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:66472378C>T uc001ojd.2 - 14 2441 c.2369G>A c.(2368-2370)CGG>CAG p.R790Q NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 790 Spectrin 5. 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 CTCCAGGGCCCGATGCTGCCT 0.677 C11orf80 79703 broad.mit.edu 37 11 66581352 66581352 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:66581352C>A uc001ojf.2 + 10 1062 c.1055C>A c.(1054-1056)CCT>CAT p.P352H C11orf80_uc001ojg.2_Missense_Mutation_p.P119H|C11orf80_uc001ojh.2_Missense_Mutation_p.P120H|C11orf80_uc001oji.2_Missense_Mutation_p.P120H|C11orf80_uc010rpl.1_5'UTR|C11orf80_uc001ojj.2_5'UTR NM_024650 NP_078926 Q8N6T0 CK080_HUMAN hypothetical protein LOC79703 197 0 CTATATGGACCTTTGGGTCTG 0.358 RHOD 29984 broad.mit.edu 37 11 66833381 66833381 + Silent SNP G G A rs147100013 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:66833381G>A uc001ojv.2 + 2 232 c.147G>A c.(145-147)ACG>ACA p.T49T NM_014578 NP_055393 O00212 RHOD_HUMAN ras homolog D precursor 49 Effector region (Potential). regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 ACACCCCCACGGTGTTTGAGC 0.627 ADRBK1 156 broad.mit.edu 37 11 67046979 67046979 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:67046979G>A uc009yrn.1 + 4 621 c.355G>A c.(355-357)GCC>ACC p.A119T ADRBK1_uc009yrm.1_Missense_Mutation_p.A119T NM_001619 NP_001610 P25098 ARBK1_HUMAN beta-adrenergic receptor kinase 1 119 RGS.|N-terminal. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GGAGCTGCTGGCCTGCTCGCA 0.592 TCIRG1 10312 broad.mit.edu 37 11 67816415 67816415 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:67816415G>A uc001one.2 + 14 1732 c.1624G>A c.(1624-1626)GGC>AGC p.G542S TCIRG1_uc001ong.2_Missense_Mutation_p.G326S|TCIRG1_uc001onh.2_Missense_Mutation_p.G244S|TCIRG1_uc001oni.2_Missense_Mutation_p.G46S|TCIRG1_uc009ysd.2_5'Flank NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 542 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 CGTCATCCTGGGCGTCGTGCA 0.627 CPT1A 1374 broad.mit.edu 37 11 68548161 68548161 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:68548161G>T uc001oog.3 - 12 1575 c.1405C>A c.(1405-1407)CTC>ATC p.L469I CPT1A_uc001oof.3_Missense_Mutation_p.L469I|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 469 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) TCAGCGTTGAGGCCCATCTTC 0.463 ANO1 55107 broad.mit.edu 37 11 69957855 69957855 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:69957855A>G uc001opj.2 + 7 1147 c.842A>G c.(841-843)TAC>TGC p.Y281C ANO1_uc001opk.1_Missense_Mutation_p.Y253C|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.Y16C NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 281 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 GCGGCTGCATACCCACTGCAC 0.562 ANO1 55107 broad.mit.edu 37 11 70028653 70028653 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:70028653T>C uc001opj.2 + 24 2754 c.2449T>C c.(2449-2451)TAC>CAC p.Y817H ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.Y526H|ANO1_uc010rql.1_5'UTR NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 817 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 GCGCCTGGTGTACCTCTACAT 0.612 KRTAP5-8 57830 broad.mit.edu 37 11 71249264 71249264 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:71249264G>T uc001oqr.1 + 1 194 c.163G>T c.(163-165)GGC>TGC p.G55C NM_021046 NP_066384 O75690 KRA58_HUMAN keratin associated protein 5-8 55 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis 0 CTCCTGTGGGGGCTCCAAGGG 0.667 FOLR2 2350 broad.mit.edu 37 11 71932561 71932561 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:71932561T>G uc009ytd.2 + 5 692 c.523T>G c.(523-525)TAC>GAC p.Y175D FOLR2_uc009yte.2_Missense_Mutation_p.Y175D|FOLR2_uc001ose.3_Missense_Mutation_p.Y175D|FOLR2_uc009ytf.2_Missense_Mutation_p.Y175D NM_001113534 NP_001107006 P14207 FOLR2_HUMAN folate receptor 2 precursor 175 folic acid transport anchored to membrane|extracellular region|membrane fraction|plasma membrane folic acid binding|receptor activity breast(2)|ovary(1) 3 Folic Acid(DB00158) CTTTGAGTCCTACTTCCCCAC 0.592 ARAP1 116985 broad.mit.edu 37 11 72424265 72424265 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:72424265G>A uc001osu.2 - 5 892 c.703C>T c.(703-705)CCA>TCA p.P235S ARAP1_uc001osv.2_Missense_Mutation_p.P235S|ARAP1_uc001osr.2_5'UTR|ARAP1_uc001oss.2_5'UTR|ARAP1_uc009yth.2_5'UTR|ARAP1_uc010rre.1_5'UTR NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 235 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 CCCTCCTCTGGGACCTCATCG 0.662 C2CD3 26005 broad.mit.edu 37 11 73820094 73820094 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:73820094T>C uc001ouu.2 - 12 2174 c.1947A>G c.(1945-1947)AAA>AAG p.K649K NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 649 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TCTGTGGAGTTTTCTTTACAT 0.398 C2CD3 26005 broad.mit.edu 37 11 73820180 73820180 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:73820180G>A uc001ouu.2 - 12 2088 c.1861C>T c.(1861-1863)CGA>TGA p.R621* NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 621 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) AACACAAATCGCTGCTGGAAC 0.443 INTS4 92105 broad.mit.edu 37 11 77667073 77667073 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:77667073C>T uc001oys.2 - 8 861 c.833G>A c.(832-834)CGC>CAC p.R278H INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.R278H NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 278 HEAT 5. snRNA processing integrator complex protein binding ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) ATCAACTAAGCGTATTTCTTC 0.373 ODZ4 26011 broad.mit.edu 37 11 78369281 78369281 + Missense_Mutation SNP C C T rs148029717 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:78369281C>T uc001ozl.3 - 34 8595 c.8132G>A c.(8131-8133)CGG>CAG p.R2711Q ODZ4_uc001ozk.3_Missense_Mutation_p.R936Q|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2711 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CTCCCCTTCCCGCAGTCTCTG 0.667 GRM5 2915 broad.mit.edu 37 11 88241901 88241901 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:88241901C>T uc001pcq.2 - 9 3698 c.3498G>A c.(3496-3498)CCG>CCA p.P1166P GRM5_uc009yvm.2_Silent_p.P1134P NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 1166 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) TGAAGGGGGACGGCGGGGTGA 0.706 GRM5 2915 broad.mit.edu 37 11 88300530 88300530 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:88300530A>T uc001pcq.2 - 7 2521 c.2321T>A c.(2320-2322)ATC>AAC p.I774N GRM5_uc009yvm.2_Missense_Mutation_p.I774N NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 774 Helical; Name=6; (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) TGTGAAGGCGATATACTTGGC 0.438 FAT3 120114 broad.mit.edu 37 11 92534857 92534857 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:92534857T>C uc001pdj.3 + 9 8695 c.8678T>C c.(8677-8679)GTG>GCG p.V2893A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2893 Cadherin 26.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCTTCTCTGTGGTGGCCTCT 0.498 TCGA Ovarian(4;0.039) MED17 9440 broad.mit.edu 37 11 93529642 93529642 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:93529642A>G uc001pem.3 + 7 1354 c.1079A>G c.(1078-1080)GAG>GGG p.E360G NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 360 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTTGCTACTGAGAAGCAATGT 0.358 MRE11A 4361 broad.mit.edu 37 11 94224123 94224123 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:94224123T>C uc001peu.2 - 3 218 c.29A>G c.(28-30)GAA>GGA p.E10G MRE11A_uc001pev.2_Missense_Mutation_p.E10G|MRE11A_uc009ywj.2_Missense_Mutation_p.E13G NM_005591 NP_005582 P49959 MRE11_HUMAN meiotic recombination 11 homolog A isoform 1 10 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(4)|lung(1) 5 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) AAATGTGTTTTCATCATCACT 0.244 Homologous_recombination Ataxia-Telangiectasia-Like_Disorder SESN3 143686 broad.mit.edu 37 11 94910901 94910901 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:94910901T>C uc001pfk.1 - 8 1451 c.1229A>G c.(1228-1230)CAC>CGC p.H410R SESN3_uc010rug.1_Missense_Mutation_p.H271R NM_144665 NP_653266 P58005 SESN3_HUMAN sestrin 3 410 cell cycle arrest nucleus 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) AAACATACAGTGAACATAGTT 0.373 MMP8 4317 broad.mit.edu 37 11 102593239 102593239 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:102593239G>A uc001phe.2 - 2 367 c.268C>T c.(268-270)CGC>TGC p.R90C MMP8_uc010rut.1_Missense_Mutation_p.R25C|MMP8_uc010ruu.1_Missense_Mutation_p.R67C NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 90 Cysteine switch (By similarity). collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ACTCCACAGCGAGGCTTTTTC 0.453 KIAA1826 84437 broad.mit.edu 37 11 105881471 105881471 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:105881471T>C uc001piy.2 - 2 347 c.174A>G c.(172-174)GTA>GTG p.V58V KIAA1826_uc001piz.2_Silent_p.V58V NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 58 nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) CTCCTTCTCCTACAGCATTCA 0.443 DDX10 1662 broad.mit.edu 37 11 108593810 108593810 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:108593810C>T uc001pkm.2 + 13 1651 c.1586C>T c.(1585-1587)GCC>GTC p.A529V DDX10_uc001pkl.1_Missense_Mutation_p.A529V NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 529 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) AGGAGCCAAGCCGATAAAGTA 0.433 T NUP98 AML* C11orf52 91894 broad.mit.edu 37 11 111796699 111796699 + Nonsense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:111796699G>T uc001pmh.2 + 5 631 c.148G>T c.(148-150)GGA>TGA p.G50* C11orf52_uc001pmi.2_Nonsense_Mutation_p.G50* NM_080659 NP_542390 Q96A22 CK052_HUMAN hypothetical protein LOC91894 50 ovary(1) 1 all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) TGAAACAACAGGACATACGTA 0.502 FAM55D 54827 broad.mit.edu 37 11 114453454 114453454 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:114453454C>A uc001ppc.2 - 3 567 c.386G>T c.(385-387)CGC>CTC p.R129L FAM55D_uc001ppd.2_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 129 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) TTGCTTCCTGCGTCCCAAGTG 0.587 APOA5 116519 broad.mit.edu 37 11 116660973 116660973 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:116660973G>A uc001ppr.2 - 3 980 c.972C>T c.(970-972)TTC>TTT p.F324F ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.F324F|APOA5_uc009yzf.2_Silent_p.F324F|APOA5_uc009yzg.2_Silent_p.F350F NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 324 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) ACTCTGGGGCGAAGGCACTGT 0.592 SIK3 23387 broad.mit.edu 37 11 116767059 116767059 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:116767059C>T uc001ppy.2 - 6 637 c.601G>A c.(601-603)GGT>AGT p.G201S SIK3_uc001ppz.2_Missense_Mutation_p.G100S|SIK3_uc001pqa.2_Missense_Mutation_p.G201S NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 201 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 GGCAGGGCACCGCACACAAGC 0.498 DSCAML1 57453 broad.mit.edu 37 11 117303920 117303920 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:117303920G>A uc001prh.1 - 29 5142 c.5140C>T c.(5140-5142)CGG>TGG p.R1714W NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1654 Cytoplasmic (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) ATGTGTAGCCGTGGGCCCTGG 0.567 UBE4A 9354 broad.mit.edu 37 11 118255401 118255401 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:118255401C>A uc001psw.2 + 14 2378 c.2249C>A c.(2248-2250)CCT>CAT p.P750H UBE4A_uc001psv.2_Missense_Mutation_p.P757H NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 750 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CCCATGTATCCTATCCTAAGA 0.443 MLL 4297 broad.mit.edu 37 11 118363823 118363823 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:118363823C>T uc001pta.2 + 16 5070 c.5047C>T c.(5047-5049)CGC>TGC p.R1683C MLL_uc001ptb.2_Missense_Mutation_p.R1686C NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1683 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) TATACCTTCCCGCAGCTCCCC 0.478 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 ARCN1 372 broad.mit.edu 37 11 118463520 118463520 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:118463520G>A uc001ptq.2 + 7 1242 c.1081G>A c.(1081-1083)GTG>ATG p.V361M ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.V273M|ARCN1_uc009zag.2_Missense_Mutation_p.V402M NM_001655 NP_001646 P48444 COPD_HUMAN archain isoform 1 361 MHD. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TGACGTAGGGGTGCTAAAGTG 0.438 BCL9L 283149 broad.mit.edu 37 11 118770759 118770759 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:118770759C>T uc001pug.2 - 7 4238 c.3273G>A c.(3271-3273)ATG>ATA p.M1091I BCL9L_uc009zal.2_Missense_Mutation_p.M1086I NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1091 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CGTACTTGGACATCTGGGTCA 0.627 ABCG4 64137 broad.mit.edu 37 11 119025010 119025010 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:119025010C>T uc001pvs.2 + 4 733 c.397C>T c.(397-399)CCA>TCA p.P133S ABCG4_uc009zar.2_Missense_Mutation_p.P133S NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 133 Cytoplasmic (Potential).|ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TAATGGAAGGCCACGGGAGCT 0.557 PUS3 83480 broad.mit.edu 37 11 125765567 125765567 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:125765567G>A uc001qcy.2 - 3 594 c.496C>T c.(496-498)CGG>TGG p.R166W HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron NM_031307 NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 166 nucleus RNA binding ovary(1) 1 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) GGGAGTACCCGATTGAGAATG 0.502 RPUSD4 84881 broad.mit.edu 37 11 126081486 126081486 + Silent SNP G G A rs141244684 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:126081486G>A uc001qde.2 - 1 102 c.48C>T c.(46-48)AAC>AAT p.N16N FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Silent_p.N16N|RPUSD4_uc009zby.2_RNA NM_032795 NP_116184 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 16 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1) 1 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) AACCTTGGCCGTTTCCCCGGA 0.622 SRPR 6734 broad.mit.edu 37 11 126136516 126136516 + Missense_Mutation SNP G G A rs148507841 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:126136516G>A uc001qdh.2 - 6 746 c.695C>T c.(694-696)ACG>ATG p.T232M SRPR_uc010sbm.1_Missense_Mutation_p.T204M|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 232 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) ATCTGACTTCGTGGACTTGCT 0.493 FLI1 2313 broad.mit.edu 37 11 128564097 128564097 + Translation_Start_Site SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:128564097G>T uc010sbu.1 + 1 285 c.-56G>T c.(-58--54)CAGGC>CATGC FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Translation_Start_Site|FLI1_uc009zci.2_Translation_Start_Site|uc001qel.2_Intron NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TGCGAGGTCAGGCTGTAACCG 0.682 T EWSR1 Ewing sarcoma ARHGAP32 9743 broad.mit.edu 37 11 128844793 128844793 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:128844793T>C uc009zcp.2 - 20 2257 c.2257A>G c.(2257-2259)AAT>GAT p.N753D ARHGAP32_uc009zcq.1_Missense_Mutation_p.N713D|ARHGAP32_uc009zco.2_Translation_Start_Site|ARHGAP32_uc001qez.2_Missense_Mutation_p.N404D NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 753 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 TGAGGCAGATTATCATAGGAG 0.498 PRDM10 56980 broad.mit.edu 37 11 129775589 129775589 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:129775589T>C uc001qfm.2 - 21 3455 c.3223A>G c.(3223-3225)ACA>GCA p.T1075A PRDM10_uc001qfj.2_Missense_Mutation_p.T976A|PRDM10_uc001qfk.2_Missense_Mutation_p.T938A|PRDM10_uc001qfl.2_Missense_Mutation_p.T989A|PRDM10_uc010sbx.1_Missense_Mutation_p.T985A|PRDM10_uc001qfn.2_Missense_Mutation_p.T1071A NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 1062 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CCACTGTCTGTAATCACAAAC 0.463 SLC6A13 6540 broad.mit.edu 37 12 333237 333237 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:333237C>T uc001qic.1 - 11 1285 c.1232G>A c.(1231-1233)CGC>CAC p.R411H SLC6A13_uc009zdj.1_Missense_Mutation_p.R401H|SLC6A13_uc010sdl.1_Missense_Mutation_p.R319H NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 411 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GTTCTTCTTGCGGAACACGTG 0.572 KDM5A 5927 broad.mit.edu 37 12 442691 442691 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:442691T>C uc001qif.1 - 12 1978 c.1615A>G c.(1615-1617)ATC>GTC p.I539V KDM5A_uc001qie.1_Missense_Mutation_p.I539V|KDM5A_uc010sdn.1_Missense_Mutation_p.I498V|KDM5A_uc010sdo.1_Missense_Mutation_p.I158V NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 539 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 GGGTTCATGATGGTAACTAAC 0.418 T NUP98 AML RAD52 5893 broad.mit.edu 37 12 1036391 1036391 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:1036391A>G uc001qis.1 - 6 501 c.387T>C c.(385-387)AGT>AGC p.S129S RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.S52S|RAD52_uc001qiu.1_Silent_p.S129S|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Silent_p.S129S|RAD52_uc001qix.1_Silent_p.S129S NM_134424 NP_602296 P43351 RAD52_HUMAN RAD52 homolog 129 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) TGAGGCCCTCACTAACACCAT 0.557 Homologous_recombination CACNA1C 775 broad.mit.edu 37 12 2692102 2692102 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:2692102G>A uc009zdu.1 + 15 2531 c.2218G>A c.(2218-2220)GGA>AGA p.G740R CACNA1C_uc009zdv.1_Missense_Mutation_p.G737R|CACNA1C_uc001qkb.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkc.2_Missense_Mutation_p.G740R|CACNA1C_uc001qke.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkf.2_Missense_Mutation_p.G740R|CACNA1C_uc001qjz.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkd.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkg.2_Missense_Mutation_p.G740R|CACNA1C_uc009zdw.1_Missense_Mutation_p.G740R|CACNA1C_uc001qkh.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkl.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkn.2_Missense_Mutation_p.G740R|CACNA1C_uc001qko.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkp.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkr.2_Missense_Mutation_p.G740R|CACNA1C_uc001qku.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkq.2_Missense_Mutation_p.G740R|CACNA1C_uc001qks.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkt.2_Missense_Mutation_p.G740R|CACNA1C_uc001qka.1_Missense_Mutation_p.G275R|CACNA1C_uc001qki.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkj.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkk.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkm.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkw.2_Missense_Mutation_p.G29R NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 740 Helical; Name=S6 of repeat II; (Potential).|II. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTTCATCTGTGGAAACTGTAT 0.587 CACNA1C 775 broad.mit.edu 37 12 2764356 2764356 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:2764356G>A uc009zdu.1 + 36 4641 c.4328G>A c.(4327-4329)CGG>CAG p.R1443Q CACNA1C_uc009zdv.1_Missense_Mutation_p.R1392Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qke.2_Missense_Mutation_p.R1384Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1384Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1382Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1417Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1384Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1443Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qko.2_Missense_Mutation_p.R1415Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1412Q|CACNA1C_uc001qku.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1423Q|CACNA1C_uc001qks.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qki.1_Missense_Mutation_p.R1131Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1131Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1131Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1120Q|CACNA1C_uc010sea.1_Missense_Mutation_p.R86Q NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1443 Extracellular (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GAGATCAACCGGAACAACAAC 0.502 FKBP4 2288 broad.mit.edu 37 12 2907948 2907948 + Missense_Mutation SNP G G A rs1062478 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:2907948G>A uc001qkz.2 + 4 668 c.470G>A c.(469-471)CGC>CAC p.R157H NM_002014 NP_002005 Q02790 FKBP4_HUMAN FK506 binding protein 52 157 negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging 0 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) ATACAGACTCGCGGTGAAGGC 0.363 ITFG2 55846 broad.mit.edu 37 12 2929961 2929961 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:2929961G>A uc001qlb.1 + 6 682 c.618G>A c.(616-618)GCG>GCA p.A206A ITFG2_uc010seb.1_Silent_p.A29A|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 206 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CAGGTTGTGCGTATGCAATTC 0.562 KCNA5 3741 broad.mit.edu 37 12 5153819 5153819 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:5153819G>A uc001qni.2 + 1 735 c.506G>A c.(505-507)CGG>CAG p.R169Q NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 169 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 GACCGCAACCGGCCCAGCTTC 0.657 CHD4 1108 broad.mit.edu 37 12 6692419 6692419 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:6692419T>G uc001qpo.2 - 26 4169 c.4005A>C c.(4003-4005)AAA>AAC p.K1335N CHD4_uc001qpn.2_Missense_Mutation_p.K1328N|CHD4_uc001qpp.2_Missense_Mutation_p.K1332N|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1335 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TTCTTTTTCCTTTGCCCAGAT 0.532 CHD4 1108 broad.mit.edu 37 12 6707515 6707515 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:6707515G>T uc001qpo.2 - 11 1723 c.1559C>A c.(1558-1560)CCT>CAT p.P520H CHD4_uc001qpn.2_Missense_Mutation_p.P513H|CHD4_uc001qpp.2_Missense_Mutation_p.P517H NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 520 Chromo 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGGAGGCCGAGGCACTGGTGT 0.552 ACRBP 84519 broad.mit.edu 37 12 6753468 6753468 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:6753468G>T uc001qpu.1 - 5 827 c.779C>A c.(778-780)TCT>TAT p.S260Y ACRBP_uc010sfg.1_Missense_Mutation_p.S227Y NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 260 acrosomal vesicle|extracellular region central_nervous_system(1) 1 AGAAGATAGAGATTCAGAGTG 0.363 ATN1 1822 broad.mit.edu 37 12 7044832 7044832 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:7044832T>C uc001qrw.1 + 5 639 c.402T>C c.(400-402)AGT>AGC p.S134S ATN1_uc001qrx.1_Silent_p.S134S|ATN1_uc001qry.1_Silent_p.S133S NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 134 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CGTCCCCCAGTATCTACAGCC 0.592 CLEC4A 50856 broad.mit.edu 37 12 8290795 8290795 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:8290795G>A uc001qtz.1 + 6 873 c.626G>A c.(625-627)CGT>CAT p.R209H CLEC4A_uc009zga.1_Missense_Mutation_p.R170H|CLEC4A_uc001qub.1_Missense_Mutation_p.R176H|CLEC4A_uc001quc.1_Missense_Mutation_p.R137H|CLEC4A_uc009zgb.1_3'UTR NM_016184 NP_057268 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A isoform 209 Extracellular (Potential).|C-type lectin. cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 Kidney(36;0.0915) CTAAATTTTCGTAAATCACCC 0.433 RIMKLB 57494 broad.mit.edu 37 12 8926340 8926340 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:8926340A>G uc001quu.2 + 6 1372 c.1121A>G c.(1120-1122)AAC>AGC p.N374S RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.N374S|RIMKLB_uc010sgl.1_Missense_Mutation_p.N374S|RIMKLB_uc001quw.2_Intron NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 374 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 TTCAACATGAACCAGCTGCTA 0.463 M6PR 4074 broad.mit.edu 37 12 9095057 9095057 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:9095057C>T uc001qvf.2 - 6 836 c.666G>A c.(664-666)CAG>CAA p.Q222Q NM_002355 NP_002346 P20645 MPRD_HUMAN cation-dependent mannose-6-phosphate receptor 222 Cytoplasmic (Potential). endosome to lysosome transport|receptor-mediated endocytosis cell surface|endosome|integral to plasma membrane|lysosomal membrane mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity 0 Hepatocellular(102;0.137) BRCA - Breast invasive adenocarcinoma(232;0.0146) AGTGGGGAAACTGCTCCATTC 0.473 BCL2L14 79370 broad.mit.edu 37 12 12247797 12247797 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:12247797T>C uc001rac.2 + 5 1079 c.878T>C c.(877-879)GTC>GCC p.V293A ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Missense_Mutation_p.V293A|BCL2L14_uc001rae.2_3'UTR NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN BCL2-like 14 isoform 1 293 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding skin(1) 1 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) ATGAACAGGGTCCTGGGCTTT 0.498 LRP6 4040 broad.mit.edu 37 12 12339968 12339968 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:12339968G>A uc001rah.3 - 4 875 c.733C>T c.(733-735)CAC>TAC p.H245Y BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.H245Y NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 245 Extracellular (Potential).|Beta-propeller 1.|LDL-receptor class B 5. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) AAAATGGAGTGTGTGCTCCAG 0.448 LMO3 55885 broad.mit.edu 37 12 16713448 16713448 + Silent SNP G G A rs149014326 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:16713448G>A uc001rdk.1 - 3 671 c.231C>T c.(229-231)TGC>TGT p.C77C LMO3_uc001rdj.1_Silent_p.C88C|LMO3_uc010shy.1_Silent_p.C95C|LMO3_uc001rdl.1_Silent_p.C77C|LMO3_uc009zii.1_RNA|LMO3_uc010shz.1_Silent_p.C99C|LMO3_uc001rdm.1_Silent_p.C77C|LMO3_uc001rdo.1_RNA|LMO3_uc001rdp.1_RNA|LMO3_uc001rdn.1_Silent_p.C77C|LMO3_uc009zij.1_RNA|LMO3_uc009zik.1_RNA NM_018640 NP_061110 Q8TAP4 LMO3_HUMAN LIM domain only 3 77 LIM zinc-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding 0 Hepatocellular(102;0.244) TACAGGCAGCGCAGTTTCCCG 0.413 RECQL 5965 broad.mit.edu 37 12 21628712 21628712 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:21628712A>G uc001rex.2 - 10 1344 c.996T>C c.(994-996)GTT>GTC p.V332V RECQL_uc001rey.2_Silent_p.V332V NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 332 Helicase C-terminal. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 TCTGCAAACTAACCGTAACTT 0.378 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function ABCD2 225 broad.mit.edu 37 12 40013372 40013372 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:40013372T>C uc001rmb.2 - 1 472 c.46A>G c.(46-48)AGA>GGA p.R16G NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 16 Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 GCACTCGATCTGGTCCATTTC 0.473 PRICKLE1 144165 broad.mit.edu 37 12 42859016 42859016 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:42859016C>T uc010skv.1 - 7 1107 c.820G>A c.(820-822)GCC>ACC p.A274T PRICKLE1_uc001rnl.2_Missense_Mutation_p.A274T|PRICKLE1_uc010skw.1_Missense_Mutation_p.A274T|PRICKLE1_uc001rnm.2_Missense_Mutation_p.A274T NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 274 LIM zinc-binding 3. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GCTTCCGTGGCGTGCCAGTGC 0.473 SLC38A4 55089 broad.mit.edu 37 12 47178327 47178327 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:47178327C>T uc001rpi.2 - 7 890 c.491G>A c.(490-492)GGA>GAA p.G164E SLC38A4_uc001rpj.2_Missense_Mutation_p.G164E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G164E NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 164 Helical; (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) CCCCTTACCTCCAATGTTCTG 0.348 ADCY6 112 broad.mit.edu 37 12 49167430 49167430 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:49167430A>G uc001rsh.3 - 15 3103 c.2443T>C c.(2443-2445)TAC>CAC p.Y815H ADCY6_uc001rsj.3_Missense_Mutation_p.Y815H|ADCY6_uc001rsi.3_Missense_Mutation_p.Y762H|ADCY6_uc010slw.1_Missense_Mutation_p.Y46H NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 815 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 CCGATGAAGTACTGCGGGGGT 0.597 MLL2 8085 broad.mit.edu 37 12 49434800 49434800 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:49434800C>T uc001rta.3 - 31 6753 c.6753G>A c.(6751-6753)TCG>TCA p.S2251S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2251 Pro-rich. 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 AGTTATCCAGCGAGGGGCAGC 0.667 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) DIP2B 57609 broad.mit.edu 37 12 51100412 51100412 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:51100412T>C uc001rwv.2 + 21 2654 c.2498T>C c.(2497-2499)TTG>TCG p.L833S DIP2B_uc009zlt.2_Missense_Mutation_p.L263S NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 833 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 GCTACTGGATTGGCTGTAGAA 0.383 SLC4A8 9498 broad.mit.edu 37 12 51865099 51865099 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:51865099C>T uc001rys.1 + 14 1865 c.1687C>T c.(1687-1689)CGA>TGA p.R563* SLC4A8_uc010sni.1_Nonsense_Mutation_p.R510*|SLC4A8_uc001rym.2_Nonsense_Mutation_p.R510*|SLC4A8_uc001ryn.2_Nonsense_Mutation_p.R510*|SLC4A8_uc001ryo.2_Nonsense_Mutation_p.R510*|SLC4A8_uc010snj.1_Nonsense_Mutation_p.R590*|SLC4A8_uc001ryq.3_Nonsense_Mutation_p.R563*|SLC4A8_uc001ryr.2_Nonsense_Mutation_p.R563*|SLC4A8_uc010snk.1_Nonsense_Mutation_p.R510* NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 563 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) CCTCTCCCTGCGAGCTTGTAT 0.468 KRT84 3890 broad.mit.edu 37 12 52779139 52779139 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:52779139G>A uc001sah.1 - 1 279 c.231C>T c.(229-231)GTC>GTT p.V77V NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 77 Head. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) CACCAAAGCGGACTCCACAGT 0.597 KRT74 121391 broad.mit.edu 37 12 52960950 52960950 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:52960950C>A uc001sap.1 - 9 1441 c.1393G>T c.(1393-1395)GTC>TTC p.V465F NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 465 Tail. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) CTGCTGATGACAGCTGAGGAG 0.607 KRT18 3875 broad.mit.edu 37 12 53343180 53343180 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:53343180G>A uc001sbe.2 + 2 292 c.223G>A c.(223-225)GGA>AGA p.G75R KRT18_uc009zmn.1_Missense_Mutation_p.G75R|KRT18_uc001sbf.1_5'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.G75R|KRT18_uc009zmo.2_Missense_Mutation_p.G75R|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 75 Head.|Necessary for interaction with PNN. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity skin(1) 1 GGCAGGAATGGGAGGCATCCA 0.657 AMHR2 269 broad.mit.edu 37 12 53818978 53818978 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:53818978C>T uc001scx.1 + 4 532 c.454C>T c.(454-456)CTG>TTG p.L152L AMHR2_uc009zmy.1_Silent_p.L152L NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 152 Helical; (Potential). Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) ACTGGTGCTGCTGGGGCTGTT 0.577 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) ITGA5 3678 broad.mit.edu 37 12 54801974 54801974 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:54801974T>C uc001sga.2 - 7 805 c.737A>G c.(736-738)TAC>TGC p.Y246C ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 246 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 GTACTCGGGGTAATAAGATTC 0.547 LACRT 90070 broad.mit.edu 37 12 55025549 55025549 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:55025549C>T uc001sgi.1 - 4 366 c.328G>A c.(328-330)GTG>ATG p.V110M NM_033277 NP_150593 Q9GZZ8 LACRT_HUMAN lacritin precursor 110 calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion extracellular region|stored secretory granule collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding central_nervous_system(1) 1 CCACCTGGCACGCCTCCGTGC 0.468 DGKA 1606 broad.mit.edu 37 12 56333930 56333930 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:56333930T>C uc001sij.2 + 10 1038 c.774T>C c.(772-774)TAT>TAC p.Y258Y DGKA_uc009zoc.1_Silent_p.Y258Y|DGKA_uc001sih.1_Silent_p.Y146Y|DGKA_uc001sii.1_Silent_p.Y116Y|DGKA_uc009zod.1_Silent_p.Y177Y|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Silent_p.Y258Y|DGKA_uc001sil.2_Silent_p.Y258Y|DGKA_uc001sim.2_Silent_p.Y258Y|DGKA_uc001sin.2_Silent_p.Y258Y|DGKA_uc009zof.2_Intron|DGKA_uc001sio.2_Missense_Mutation_p.M1T NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 258 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) TCAGCACCTATGCCAAGTCTC 0.557 OREG0021913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ERBB3 2065 broad.mit.edu 37 12 56489571 56489571 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:56489571G>A uc001sjh.2 + 17 2229 c.2036G>A c.(2035-2037)CGA>CAA p.R679Q ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.R36Q|ERBB3_uc010sqc.1_Missense_Mutation_p.R620Q|ERBB3_uc009zok.2_Missense_Mutation_p.R121Q|ERBB3_uc001sjk.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 679 Cytoplasmic (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GCTATGAGGCGATACTTGGAA 0.433 ANKRD52 283373 broad.mit.edu 37 12 56642611 56642611 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:56642611G>A uc001skm.3 - 16 1726 c.1636C>T c.(1636-1638)CGG>TGG p.R546W NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 546 protein binding ovary(2) 2 TGCCTGTCCCGCAGGGAGGGG 0.637 MYO1A 4640 broad.mit.edu 37 12 57435035 57435035 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:57435035T>A uc001smw.3 - 14 1445 c.1202A>T c.(1201-1203)AAT>ATT p.N401I MYO1A_uc010sqz.1_Missense_Mutation_p.N239I|MYO1A_uc009zpd.2_Missense_Mutation_p.N401I NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 401 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 CAGCTTCTCATTGCAGTAGTT 0.443 ARHGAP9 64333 broad.mit.edu 37 12 57871291 57871291 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:57871291A>G uc001sod.2 - 7 1113 c.920T>C c.(919-921)CTG>CCG p.L307P ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.L52P|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.L236P|ARHGAP9_uc001soc.2_Missense_Mutation_p.L236P|ARHGAP9_uc001soe.1_Missense_Mutation_p.L315P|ARHGAP9_uc010sro.1_Missense_Mutation_p.L236P NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 236 WW. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) GCAGCCAGTCAGTGAATTTAT 0.632 DCTN2 10540 broad.mit.edu 37 12 57924555 57924555 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:57924555G>A uc001som.1 - 14 1255 c.1123C>T c.(1123-1125)CAG>TAG p.Q375* DCTN2_uc009zpu.1_Nonsense_Mutation_p.Q380*|DCTN2_uc009zpv.1_Nonsense_Mutation_p.Q288*|DCTN2_uc009zpw.1_Nonsense_Mutation_p.Q288*|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Nonsense_Mutation_p.Q288*|DCTN2_uc001sop.1_Nonsense_Mutation_p.Q288*|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Nonsense_Mutation_p.Q351* NM_006400 NP_006391 Q13561 DCTN2_HUMAN dynactin 2 375 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding ovary(1) 1 ATGGTTGTCTGCACCTACAAA 0.478 MON2 23041 broad.mit.edu 37 12 62943509 62943509 + Missense_Mutation SNP A A G rs71465159 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:62943509A>G uc001sre.2 + 23 3206 c.2815A>G c.(2815-2817)ACA>GCA p.T939A MON2_uc009zqj.2_Missense_Mutation_p.T939A|MON2_uc010ssl.1_Missense_Mutation_p.T867A|MON2_uc010ssm.1_Missense_Mutation_p.T916A|MON2_uc010ssn.1_Missense_Mutation_p.T939A|MON2_uc001srf.2_Missense_Mutation_p.T702A NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 940 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTTTCTACCAACAATGCCTTG 0.358 MON2 23041 broad.mit.edu 37 12 62954787 62954787 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:62954787T>C uc001sre.2 + 26 4317 c.3926T>C c.(3925-3927)GTC>GCC p.V1309A MON2_uc009zqj.2_Missense_Mutation_p.V1309A|MON2_uc010ssl.1_Missense_Mutation_p.V1237A|MON2_uc010ssm.1_Missense_Mutation_p.V1286A|MON2_uc010ssn.1_Missense_Mutation_p.V1309A|MON2_uc001srf.2_Missense_Mutation_p.V1072A|MON2_uc001srg.2_Missense_Mutation_p.V184A NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1310 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) GCTATTTCAGTCCCAATAAGT 0.373 RAP1B 5908 broad.mit.edu 37 12 69050939 69050939 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:69050939G>A uc001sub.2 + 7 690 c.527G>A c.(526-528)CGC>CAC p.R176H RAP1B_uc010ste.1_Missense_Mutation_p.R110H|RAP1B_uc001suc.2_Missense_Mutation_p.R176H|RAP1B_uc010stf.1_Missense_Mutation_p.R157H|RAP1B_uc010stg.1_Missense_Mutation_p.R134H|RAP1B_uc010sth.1_Missense_Mutation_p.R134H|RAP1B_uc010sti.1_Missense_Mutation_p.R129H NM_001089704 NP_001083173 P61224 RAP1B_HUMAN SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family; 176 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding 0 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) GGGAAGGCTCGCAAAAAGTCA 0.378 RAB3IP 117177 broad.mit.edu 37 12 70149312 70149312 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:70149312C>T uc001svp.2 + 2 619 c.172C>T c.(172-174)CGG>TGG p.R58W RAB3IP_uc001svl.1_Missense_Mutation_p.R42W|RAB3IP_uc001svm.2_Missense_Mutation_p.R42W|RAB3IP_uc001svn.2_Missense_Mutation_p.R42W|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.R58W|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA NM_175623 NP_783322 Q96QF0 RAB3I_HUMAN RAB3A interacting protein isoform alpha 2 58 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TGTCATCTACCGGCCACACCC 0.468 NAP1L1 4673 broad.mit.edu 37 12 76453978 76453978 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:76453978A>G uc001sxw.2 - 5 700 c.288T>C c.(286-288)TAT>TAC p.Y96Y NAP1L1_uc001sxv.2_Silent_p.Y54Y|NAP1L1_uc001sxz.2_Silent_p.Y54Y|NAP1L1_uc001sxx.2_Silent_p.Y96Y|NAP1L1_uc001sxy.2_Silent_p.Y33Y|NAP1L1_uc010sty.1_Silent_p.Y54Y|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Silent_p.Y96Y|NAP1L1_uc001syb.2_Silent_p.Y96Y|NAP1L1_uc001sya.2_Silent_p.Y54Y|NAP1L1_uc001syc.2_Silent_p.Y96Y NM_139207 NP_631946 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 96 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding ovary(1)|skin(1) 2 Colorectal(145;0.09) GAACTTCCTCATAGAATTTGG 0.373 NAV3 89795 broad.mit.edu 37 12 78513556 78513556 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:78513556G>A uc001syp.2 + 15 3753 c.3580G>A c.(3580-3582)GTC>ATC p.V1194I NAV3_uc001syo.2_Missense_Mutation_p.V1194I|NAV3_uc010sub.1_Missense_Mutation_p.V694I|NAV3_uc009zsf.2_Missense_Mutation_p.V202I NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1194 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCCTGTCACCGTCAACCAAAC 0.512 HNSCC(70;0.22) PPFIA2 8499 broad.mit.edu 37 12 81688718 81688718 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:81688718T>C uc001szo.1 - 24 2982 c.2821A>G c.(2821-2823)AGA>GGA p.R941G PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 867 ovary(3)|lung(2)|pancreas(1) 6 CCAATTTCTCTCTGGATCTCA 0.498 PPFIA2 8499 broad.mit.edu 37 12 81839401 81839401 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:81839401G>T uc001szo.1 - 6 665 c.504C>A c.(502-504)TCC>TCA p.S168S PPFIA2_uc010sue.1_Silent_p.S68S|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 94 ovary(3)|lung(2)|pancreas(1) 6 CAACTTCACTGGATACTCCTG 0.438 CCDC41 51134 broad.mit.edu 37 12 94772812 94772812 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:94772812T>C uc001tdd.2 - 7 1142 c.556A>G c.(556-558)AGA>GGA p.R186G CCDC41_uc001tde.2_Missense_Mutation_p.R186G|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.R186G NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 178 Potential. 0 TCCTCCAGTCTTGCAATCTAA 0.318 CCDC38 120935 broad.mit.edu 37 12 96288828 96288828 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:96288828T>C uc001tek.1 - 8 945 c.711A>G c.(709-711)GCA>GCG p.A237A NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 237 skin(1) 1 CTCTTTTTAGTGCTTGCTGGA 0.338 IKBIP 121457 broad.mit.edu 37 12 99007899 99007899 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:99007899T>C uc001tfv.2 - 3 627 c.517A>G c.(517-519)ACA>GCA p.T173A IKBIP_uc001tfw.2_3'UTR NM_201612 NP_963906 Q70UQ0 IKIP_HUMAN IKK interacting protein isoform 2 173 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding 0 TTTACACTTGTAATCTTGAGA 0.348 GAS2L3 283431 broad.mit.edu 37 12 100994275 100994275 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:100994275C>T uc001thu.2 + 4 360 c.134C>T c.(133-135)GCC>GTC p.A45V GAS2L3_uc009zty.2_Missense_Mutation_p.A45V|GAS2L3_uc001thv.2_5'UTR NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 45 cell cycle arrest skin(1) 1 AGGCATGAAGCCACTTTGTTG 0.428 NT5DC3 51559 broad.mit.edu 37 12 104200659 104200659 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:104200659G>A uc010swe.1 - 3 483 c.442C>T c.(442-444)CGT>TGT p.R148C NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 148 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 TGAAGTCCACGAATTGCAAAA 0.373 ACACB 32 broad.mit.edu 37 12 109702084 109702084 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:109702084C>T uc001tob.2 + 50 6954 c.6835C>T c.(6835-6837)CTA>TTA p.L2279L ACACB_uc001toc.2_Silent_p.L2279L|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.L945L NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2279 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GGAGGGCCGGCTAAAGGCTCG 0.612 OREG0022102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TRPV4 59341 broad.mit.edu 37 12 110232159 110232159 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:110232159G>A uc001tpj.1 - 7 1561 c.1466C>T c.(1465-1467)GCC>GTC p.A489V TRPV4_uc001tpg.1_Missense_Mutation_p.A455V|TRPV4_uc001tph.1_Missense_Mutation_p.A442V|TRPV4_uc001tpi.1_Missense_Mutation_p.A382V|TRPV4_uc001tpk.1_Missense_Mutation_p.A489V|TRPV4_uc001tpl.1_Missense_Mutation_p.A429V NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 489 Extracellular (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CTGGTAGTAGGCGGTGAGAGT 0.627 TRPV4 59341 broad.mit.edu 37 12 110240832 110240832 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:110240832A>G uc001tpj.1 - 3 771 c.676T>C c.(676-678)TTC>CTC p.F226L TRPV4_uc001tpg.1_Missense_Mutation_p.F192L|TRPV4_uc001tph.1_Missense_Mutation_p.F226L|TRPV4_uc001tpi.1_Missense_Mutation_p.F226L|TRPV4_uc001tpk.1_Missense_Mutation_p.F226L|TRPV4_uc001tpl.1_Missense_Mutation_p.F226L NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 226 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GAGTTAATGAACTCCCTCATG 0.627 GLTP 51228 broad.mit.edu 37 12 110293442 110293442 + Silent SNP G G A rs138733952 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:110293442G>A uc001tpm.2 - 4 543 c.429C>T c.(427-429)ATC>ATT p.I143I GLTP_uc010sxt.1_RNA NM_016433 NP_057517 Q9NZD2 GLTP_HUMAN glycolipid transfer protein 143 cytoplasm glycolipid binding|glycolipid transporter activity 0 Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122) BRCA - Breast invasive adenocarcinoma(302;0.0025) TCTTCTGCACGATCCAGCCAT 0.617 SUDS3 64426 broad.mit.edu 37 12 118841306 118841306 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:118841306T>C uc001twz.2 + 10 926 c.787T>C c.(787-789)TAC>CAC p.Y263H NM_022491 NP_071936 Q9H7L9 SDS3_HUMAN suppressor of defective silencing 3 263 chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex histone deacetylase binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGCAAACTGTACTATGACAA 0.478 GCN1L1 10985 broad.mit.edu 37 12 120567103 120567103 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:120567103G>A uc001txo.2 - 57 7880 c.7867C>T c.(7867-7869)CGG>TGG p.R2623W NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2623 HEAT 24. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCACCCTGCCGCATCTTGAGG 0.522 PXN 5829 broad.mit.edu 37 12 120660799 120660799 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:120660799G>A uc001txt.2 - 4 491 c.360C>T c.(358-360)TTC>TTT p.F120F PXN_uc001txv.2_5'UTR|PXN_uc001txx.2_5'UTR|PXN_uc001txy.2_Silent_p.F120F|PXN_uc001txz.2_RNA|uc001tya.2_5'Flank NM_001080855 NP_001074324 P49023 PAXI_HUMAN paxillin isoform 1 120 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding ovary(1)|breast(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTTGTTGGGGAAGCTTTGAG 0.532 GATC 283459 broad.mit.edu 37 12 120894950 120894950 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:120894950G>A uc010szi.1 + 3 326 c.326G>A c.(325-327)CGC>CAC p.R109H NM_176818 NP_789788 O43716 GATCL_HUMAN glutamyl-tRNA(Gln) amidotransferase, subunit C 109 regulation of translational fidelity 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACTCCCATCGCGTCGTGGAG 0.478 OREG0022192 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RHOF 54509 broad.mit.edu 37 12 122219030 122219030 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:122219030C>T uc001ubb.2 - 3 350 c.295G>A c.(295-297)GAC>AAC p.D99N TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA|RHOF_uc001ubd.3_Missense_Mutation_p.D99N NM_019034 NP_061907 Q9HBH0 RHOF_HUMAN ras homolog gene family, member F precursor 99 actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity ovary(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223) TTCATGACGTCATAGCAGATG 0.637 WDR66 144406 broad.mit.edu 37 12 122395142 122395142 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:122395142C>G uc009zxk.2 + 11 1840 c.1698C>G c.(1696-1698)GAC>GAG p.D566E NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 566 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) ATCCTCCTGACTGCACTTTAA 0.378 KNTC1 9735 broad.mit.edu 37 12 123073263 123073263 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:123073263T>C uc001ucv.2 + 40 4062 c.3899T>C c.(3898-3900)TTT>TCT p.F1300S KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1300 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TAAAAGTTATTTGGAGAGACT 0.269 HIP1R 9026 broad.mit.edu 37 12 123333393 123333393 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:123333393C>T uc001udj.1 + 4 410 c.351C>T c.(349-351)GAC>GAT p.D117D HIP1R_uc001udg.1_Silent_p.D105D|HIP1R_uc001udi.1_Silent_p.D117D|HIP1R_uc001udh.2_Silent_p.D117D NM_003959 NP_003950 O75146 HIP1R_HUMAN huntingtin interacting protein-1-related 117 ENTH. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) AGATTGGAGACCTGTGGGTAG 0.637 MPHOSPH9 10198 broad.mit.edu 37 12 123706165 123706165 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:123706165A>G uc001uel.2 - 1 277 c.170T>C c.(169-171)CTG>CCG p.L57P MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 57 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) AGATTTGTACAGATTTAATTC 0.443 SNRNP35 11066 broad.mit.edu 37 12 123950369 123950369 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:123950369C>T uc001ufb.1 + 2 398 c.282C>T c.(280-282)TAC>TAT p.Y94Y SNRNP35_uc010tar.1_Silent_p.Y99Y|SNRNP35_uc009zxz.2_Silent_p.Y99Y|SNRNP35_uc001ufc.1_Intron NM_022717 NP_073208 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 94 RRM. mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding 0 CAAAGGGCTACGCCTTCATCG 0.507 TCTN2 79867 broad.mit.edu 37 12 124191372 124191372 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:124191372T>C uc001ufp.2 + 16 1997 c.1869T>C c.(1867-1869)CCT>CCC p.P623P TCTN2_uc009zya.2_Silent_p.P622P NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 623 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TTAAAATTCCTGCACAGTTAC 0.453 PIWIL1 9271 broad.mit.edu 37 12 130846109 130846109 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:130846109G>A uc001uik.2 + 16 2023 c.1933G>A c.(1933-1935)GCA>ACA p.A645T PIWIL1_uc001uij.1_Missense_Mutation_p.A645T NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 645 RNA-binding (By similarity).|Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAGGTCAATCGCAGGATTTGT 0.483 PABPC3 5042 broad.mit.edu 37 13 25670687 25670687 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:25670687T>G uc001upy.2 + 1 412 c.351T>G c.(349-351)GAT>GAG p.D117E NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 117 RRM 2. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(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) CACTGTATGATACAGTTTCTG 0.393 NUPL1 9818 broad.mit.edu 37 13 25911075 25911075 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:25911075G>A uc001uqi.2 + 14 1683 c.1437G>A c.(1435-1437)GGG>GGA p.G479G NUPL1_uc001uqj.2_Silent_p.G467G NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 479 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) TTATACCAGGGCCACAGCCAT 0.373 SLC46A3 283537 broad.mit.edu 37 13 29286869 29286869 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:29286869C>A uc001usi.2 - 2 1978 c.1008G>T c.(1006-1008)ATG>ATT p.M336I SLC46A3_uc001usg.2_Missense_Mutation_p.M261I|SLC46A3_uc001usj.2_Missense_Mutation_p.M336I|SLC46A3_uc001ush.2_Missense_Mutation_p.M336I|SLC46A3_uc001usk.2_Missense_Mutation_p.M261I NM_181785 NP_861450 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 isoform a 336 Helical; (Potential). transmembrane transport integral to membrane central_nervous_system(1)|skin(1) 2 Lung SC(185;0.0367) all cancers(112;0.159) CCATTCCTGTCATCGTGGTAA 0.373 NBEA 26960 broad.mit.edu 37 13 35716483 35716483 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:35716483T>C uc001uvb.2 + 19 2620 c.2414T>C c.(2413-2415)GTG>GCG p.V805A NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 805 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACAAACACTGTGACTGTCACC 0.299 MAB21L1 4081 broad.mit.edu 37 13 36049859 36049859 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:36049859C>T uc001uvc.2 - 1 974 c.417G>A c.(415-417)GCG>GCA p.A139A NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 139 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) ATTTGTCTACCGCTTGAGCCA 0.562 DCLK1 9201 broad.mit.edu 37 13 36700166 36700166 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:36700166C>T uc001uvf.2 - 2 342 c.109G>A c.(109-111)GCC>ACC p.A37T NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 37 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CTGCAGTGGGCGCTGTGCGTC 0.607 C13orf36 400120 broad.mit.edu 37 13 37269461 37269461 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:37269461C>T uc001uvt.3 + 2 692 c.246C>T c.(244-246)GAC>GAT p.D82D NM_203451 NP_982276 A2A2V5 CM036_HUMAN hypothetical protein LOC400120 82 integral to membrane skin(1) 1 ATCCAAGCGACGCTGGAAGTT 0.453 POSTN 10631 broad.mit.edu 37 13 38160400 38160400 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:38160400C>T uc001uwo.3 - 7 889 c.771G>A c.(769-771)TCG>TCA p.S257S POSTN_uc001uwp.3_Silent_p.S257S|POSTN_uc001uwr.2_Silent_p.S257S|POSTN_uc001uwq.2_Silent_p.S257S|POSTN_uc010teu.1_Silent_p.S257S|POSTN_uc010tev.1_Silent_p.S257S|POSTN_uc010tew.1_Silent_p.S257S|POSTN_uc010tex.1_Silent_p.S172S NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 257 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CCAATATGTCCGATGTGATGG 0.458 KBTBD6 89890 broad.mit.edu 37 13 41706053 41706053 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:41706053T>C uc001uxu.1 - 1 884 c.595A>G c.(595-597)AAC>GAC p.N199D KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.N133D|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 199 protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) TGCTTGAAGTTCTGAGCTATA 0.562 AKAP11 11215 broad.mit.edu 37 13 42876041 42876041 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:42876041A>G uc001uys.1 + 8 3334 c.3159A>G c.(3157-3159)ACA>ACG p.T1053T NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1053 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGAATAGTACATCACTTGAGG 0.428 ENOX1 55068 broad.mit.edu 37 13 43934001 43934001 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:43934001G>A uc001uza.3 - 7 875 c.575C>T c.(574-576)GCC>GTC p.A192V ENOX1_uc001uzb.3_Missense_Mutation_p.A192V|ENOX1_uc001uzc.3_Missense_Mutation_p.A192V|ENOX1_uc010tfm.1_Missense_Mutation_p.A5V NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 192 RRM. electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) AAGGTAAATGGCTTTATCAAC 0.368 SPERT 220082 broad.mit.edu 37 13 46287374 46287374 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:46287374G>A uc001van.1 + 3 294 c.214G>A c.(214-216)GCG>ACG p.A72T SPERT_uc001vao.2_Missense_Mutation_p.A36T NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 72 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CCCTCGCTGCGCGCAGCAGGC 0.652 SPERT 220082 broad.mit.edu 37 13 46287395 46287395 + Missense_Mutation SNP C C T rs149478922 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:46287395C>T uc001van.1 + 3 315 c.235C>T c.(235-237)CGG>TGG p.R79W SPERT_uc001vao.2_Missense_Mutation_p.R43W NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 79 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CGCCCTGCCCCGGCTGAGCCG 0.667 RB1 5925 broad.mit.edu 37 13 48919305 48919305 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:48919305T>C uc001vcb.2 + 4 636 c.470T>C c.(469-471)GTA>GCA p.V157A RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 157 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(5) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGTATGATGTATTGTTTGCA 0.303 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) SETDB2 83852 broad.mit.edu 37 13 50062611 50062611 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:50062611C>T uc001vcz.2 + 13 2704 c.1798C>T c.(1798-1800)CGA>TGA p.R600* SETDB2_uc010adh.2_3'UTR|SETDB2_uc001vda.2_Nonsense_Mutation_p.R588* NM_031915 NP_114121 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 isoform a 600 SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) CCAAGAGGGACGATCTACAGC 0.393 FAM124A 220108 broad.mit.edu 37 13 51854685 51854685 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:51854685A>G uc001vfg.1 + 4 1065 c.934A>G c.(934-936)AGC>GGC p.S312G FAM124A_uc001vff.1_Missense_Mutation_p.S348G NM_145019 NP_659456 Q86V42 F124A_HUMAN hypothetical protein LOC220108 312 central_nervous_system(1) 1 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) TGCTGTACCAAGCCATACACC 0.587 UTP14C 9724 broad.mit.edu 37 13 52603377 52603377 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:52603377T>C uc001vgb.2 + 2 972 c.437T>C c.(436-438)ATC>ACC p.I146T UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 146 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome ovary(3)|large_intestine(1)|breast(1) 5 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TGGGACCCTATCATCCTGAAG 0.498 PCDH8 5100 broad.mit.edu 37 13 53418897 53418897 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:53418897T>C uc001vhi.2 - 3 3214 c.3011A>G c.(3010-3012)TAC>TGC p.Y1004C PCDH8_uc001vhj.2_Missense_Mutation_p.Y907C NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 1004 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CTGGGCCTGGTAGTAATTGTC 0.587 PCDH8 5100 broad.mit.edu 37 13 53420526 53420526 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:53420526G>A uc001vhi.2 - 1 2249 c.2046C>T c.(2044-2046)CCC>CCT p.P682P PCDH8_uc001vhj.2_Silent_p.P682P NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 682 Extracellular (Potential).|Cadherin 6. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) ACACGCGACCGGGTGGCTCCT 0.701 PCDH20 64881 broad.mit.edu 37 13 61987878 61987878 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:61987878G>T uc001vid.3 - 2 718 c.354C>A c.(352-354)TCC>TCA p.S118S PCDH20_uc010thj.1_Silent_p.S118S NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 91 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CCAGGCTGAAGGAGAGAGGGG 0.682 MYCBP2 23077 broad.mit.edu 37 13 77672481 77672481 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:77672481G>A uc001vkf.2 - 57 8785 c.8694C>T c.(8692-8694)TGC>TGT p.C2898C MYCBP2_uc010aev.2_Silent_p.C2302C|MYCBP2_uc001vkg.1_Silent_p.C421C|MYCBP2_uc010aew.2_Silent_p.C284C NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2898 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TACTTGAGGTGCAGACTTCGA 0.428 MYCBP2 23077 broad.mit.edu 37 13 77718664 77718664 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:77718664T>C uc001vkf.2 - 50 7196 c.7105A>G c.(7105-7107)AAT>GAT p.N2369D MYCBP2_uc010aev.2_Missense_Mutation_p.N1773D NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2369 Filamin. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GTCCCATCATTATTGACACGG 0.368 MYCBP2 23077 broad.mit.edu 37 13 77900654 77900654 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:77900654T>A uc001vkf.2 - 2 234 c.143A>T c.(142-144)AAT>ATT p.N48I MYCBP2_uc010aev.2_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 48 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GTCCCTGTCATTGAGCGCAGC 0.711 SLITRK1 114798 broad.mit.edu 37 13 84453749 84453749 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:84453749C>T uc001vlk.2 - 1 2780 c.1894G>A c.(1894-1896)GCC>ACC p.A632T NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 632 Helical; (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ACGGTGAAGGCGGAGGTGACA 0.587 SLITRK1 114798 broad.mit.edu 37 13 84455314 84455314 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:84455314C>A uc001vlk.2 - 1 1215 c.329G>T c.(328-330)AGG>ATG p.R110M NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 110 Extracellular (Potential).|LRR 3. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GATGTGCAGCCTTTTCACCAG 0.438 GPC6 10082 broad.mit.edu 37 13 95034795 95034795 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:95034795G>T uc001vlt.2 + 7 1912 c.1280G>T c.(1279-1281)AGC>ATC p.S427I NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 427 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) AACGGGCACAGCAAAGCCAGG 0.552 LIG4 3981 broad.mit.edu 37 13 108862651 108862651 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:108862651A>G uc001vqn.2 - 2 1239 c.966T>C c.(964-966)GAT>GAC p.D322D LIG4_uc001vqo.2_Silent_p.D322D|LIG4_uc010agg.1_Silent_p.D255D|LIG4_uc010agf.2_Silent_p.D322D|LIG4_uc001vqp.2_Silent_p.D322D NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 322 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AGATTTGTATATCTGCTTTGA 0.348 NHEJ ATP11A 23250 broad.mit.edu 37 13 113526106 113526106 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:113526106A>G uc001vsi.3 + 26 3137 c.3049A>G c.(3049-3051)ACA>GCA p.T1017A ATP11A_uc001vsj.3_Missense_Mutation_p.T1017A|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1017 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GTTCACAGTTACACTAAAGGT 0.478 PCID2 55795 broad.mit.edu 37 13 113851504 113851504 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:113851504G>A uc010tju.1 - 4 335 c.254C>T c.(253-255)ACC>ATC p.T85I PCID2_uc010tjv.1_Missense_Mutation_p.T85I|PCID2_uc010tjw.1_Missense_Mutation_p.T85I|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA NM_001127203 NP_001120675 Q5JVF3 PCID2_HUMAN PCI domain containing 2 85 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) GACTATCACGGTCTGGCACTT 0.483 FAM70B 348013 broad.mit.edu 37 13 114507949 114507949 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:114507949G>A uc001vuh.2 + 8 788 c.761G>A c.(760-762)CGC>CAC p.R254H NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 254 integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) GCAGGCTTCCGCCTGACGCCC 0.677 RNASE9 390443 broad.mit.edu 37 14 21025060 21025060 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:21025060C>T uc010aho.2 - 4 328 c.169G>A c.(169-171)GCC>ACC p.A57T RNASE9_uc001vxq.3_Missense_Mutation_p.A62T|RNASE9_uc010ahp.2_Missense_Mutation_p.A62T|RNASE9_uc010ahq.2_Missense_Mutation_p.A62T|RNASE9_uc010ahr.2_Missense_Mutation_p.A62T|RNASE9_uc010ahs.2_Missense_Mutation_p.A57T|RNASE9_uc010aht.2_Missense_Mutation_p.A57T|RNASE9_uc010ahu.2_Missense_Mutation_p.A57T NM_001110357 NP_001103827 P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 57 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(2) 2 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) GGTGGTCTGGCGGGCCCTGTA 0.378 RNASE2 6036 broad.mit.edu 37 14 21423932 21423932 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:21423932T>C uc010aif.2 + 2 71 c.2T>C c.(1-3)ATG>ACG p.M1T RNASE2_uc001vyl.1_Missense_Mutation_p.M1T NM_002934 NP_002925 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, 1 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity ovary(1) 1 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) ACAGGAAACATGGTTCCAAAA 0.498 RNF31 55072 broad.mit.edu 37 14 24619849 24619849 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:24619849T>C uc001wmn.1 + 8 1489 c.1240T>C c.(1240-1242)TAC>CAC p.Y414H RNF31_uc001wml.1_Missense_Mutation_p.Y263H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Y229H|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 414 Polyubiquitin-binding.|RanBP2-type 3. 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) TCAAGTCTGGTACTGTATTCA 0.547 ARHGAP5 394 broad.mit.edu 37 14 32562773 32562773 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:32562773A>G uc001wrl.2 + 2 3137 c.2898A>G c.(2896-2898)CTA>CTG p.L966L ARHGAP5_uc001wrm.2_Silent_p.L966L|ARHGAP5_uc001wrn.2_Silent_p.L966L|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 966 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATGTTTTTCTACCATCTCCCA 0.353 SNX6 58533 broad.mit.edu 37 14 35045035 35045035 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:35045035C>T uc001wsf.1 - 11 892 c.884G>A c.(883-885)CGA>CAA p.R295Q SNX6_uc001wse.1_Missense_Mutation_p.R167Q|SNX6_uc010tpm.1_Missense_Mutation_p.R171Q|SNX6_uc010amm.1_Missense_Mutation_p.R171Q NM_152233 NP_689419 Q9UNH7 SNX6_HUMAN sorting nexin 6 isoform b 283 cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi cytoplasmic vesicle membrane|early endosome membrane|nucleus phosphatidylinositol binding|protein homodimerization activity 0 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.0245) AGCAGACACTCGTGCTTCTAT 0.284 BAZ1A 11177 broad.mit.edu 37 14 35227976 35227976 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:35227976T>C uc001wsk.2 - 25 4888 c.4320A>G c.(4318-4320)CAA>CAG p.Q1440Q BAZ1A_uc001wsl.2_Silent_p.Q1408Q NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1440 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CTACAACAAGTTGTTCAAAAG 0.393 MIPOL1 145282 broad.mit.edu 37 14 37754595 37754595 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:37754595T>C uc001wuc.2 + 8 1069 c.566T>C c.(565-567)ATT>ACT p.I189T MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.I158T|MIPOL1_uc001wud.2_Missense_Mutation_p.I189T|MIPOL1_uc010ams.2_Missense_Mutation_p.I189T|MIPOL1_uc001wue.2_Missense_Mutation_p.I158T|MIPOL1_uc010amt.2_Missense_Mutation_p.I8T NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 189 Potential. ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) CAATTAGCCATTGAGGAGAGA 0.378 FANCM 57697 broad.mit.edu 37 14 45665536 45665536 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:45665536T>C uc001wwd.3 + 21 5601 c.5502T>C c.(5500-5502)ATT>ATC p.I1834I FANCM_uc010anf.2_Silent_p.I1808I|FANCM_uc001wwe.3_Silent_p.I1370I|FANCM_uc010ang.2_Silent_p.I1083I NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1834 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 TAGAAGTAATTTCTTCCCTAA 0.423 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia POLE2 5427 broad.mit.edu 37 14 50131378 50131378 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:50131378A>G uc001wwu.2 - 9 662 c.648T>C c.(646-648)GGT>GGC p.G216G SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_5'UTR|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_5'UTR NM_002692 NP_002683 P56282 DPOE2_HUMAN DNA-directed DNA polymerase epsilon 2 216 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity ovary(1)|skin(1) 2 all_epithelial(31;0.0021)|Breast(41;0.0124) CTGTGTATAAACCACTATGGA 0.363 DLGAP5 9787 broad.mit.edu 37 14 55650367 55650367 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:55650367G>A uc001xbs.2 - 3 560 c.343C>T c.(343-345)CGA>TGA p.R115* DLGAP5_uc001xbt.2_Nonsense_Mutation_p.R115* NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 115 Potential. cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 AATATTCCTCGTTTAGCTTTC 0.338 C14orf101 54916 broad.mit.edu 37 14 57052589 57052589 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:57052589T>C uc001xcm.2 + 3 425 c.303T>C c.(301-303)TTT>TTC p.F101F C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Silent_p.F101F|C14orf101_uc010aot.1_Silent_p.F101F|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 101 Helical; (Potential). integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) GTGGCTTATTTGGAGCAGTAG 0.393 ACTR10 55860 broad.mit.edu 37 14 58669640 58669640 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:58669640C>T uc001xdf.2 + 2 248 c.145C>T c.(145-147)CCT>TCT p.P49S C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_5'UTR|ACTR10_uc001xdh.2_5'UTR NM_018477 NP_060947 Q9NZ32 ARP10_HUMAN uncharacterized hypothalamus protein HARP11 49 cytoplasm central_nervous_system(1) 1 AGCTGGGATGCCTAAGGTATT 0.279 TRMT5 57570 broad.mit.edu 37 14 61446155 61446156 + Missense_Mutation DNP GC GC AT TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:61446155_61446156GC>AT uc001xff.3 - 2 551_552 c.460_461GC>AT c.(460-462)GCA>ATA p.A154I SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank NM_020810 NP_065861 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 154 cytoplasm tRNA (guanine-N1-)-methyltransferase activity central_nervous_system(2)|large_intestine(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0873) ACTGAGTTCTGCTTTCTCAAAG 0.356 TRMT5 57570 broad.mit.edu 37 14 61446523 61446523 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:61446523A>G uc001xff.3 - 2 184 c.93T>C c.(91-93)ATT>ATC p.I31I SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank NM_020810 NP_065861 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 31 cytoplasm tRNA (guanine-N1-)-methyltransferase activity central_nervous_system(2)|large_intestine(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0873) AAGCTACTGGAATCAACGATT 0.368 ZBTB1 22890 broad.mit.edu 37 14 64988914 64988914 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:64988914T>C uc001xhh.3 + 4 1123 c.692T>C c.(691-693)TTA>TCA p.L231S ZBTB1_uc010aqg.2_Missense_Mutation_p.L231S|ZBTB1_uc001xhi.2_Missense_Mutation_p.L231S NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 231 C2H2-type 1; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) GAAAAATTATTAGATGAGCAT 0.373 HSPA2 3306 broad.mit.edu 37 14 65008542 65008542 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:65008542C>T uc001xhj.2 + 2 1051 c.975C>T c.(973-975)CGC>CGT p.R325R HSPA2_uc001xhk.3_Silent_p.R325R NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 325 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) AGGCGCTGCGCGACGCCAAGC 0.627 GPHN 10243 broad.mit.edu 37 14 66975274 66975274 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:66975274A>G uc001xiy.2 + 1 1150 c.29A>G c.(28-30)AAC>AGC p.N10S GPHN_uc001xiw.2_Missense_Mutation_p.N10S|GPHN_uc001xix.2_Missense_Mutation_p.N10S|GPHN_uc010tss.1_Missense_Mutation_p.N10S|GPHN_uc010tst.1_Missense_Mutation_p.N10S|uc010tsr.1_5'Flank NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN gephyrin isoform 2 10 N -> Y (in STHE; sporadic case). Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity ovary(2) 2 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) ATCCTTACTAACCACGACCAT 0.622 T MLL AL PNMA1 9240 broad.mit.edu 37 14 74179954 74179954 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:74179954G>A uc001xor.1 - 1 1175 c.389C>T c.(388-390)CCG>CTG p.P130L NM_006029 NP_006020 Q8ND90 PNMA1_HUMAN paraneoplastic antigen MA1 130 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) gcccggggtcggagtagggtt 0 DLST 1743 broad.mit.edu 37 14 75361033 75361033 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:75361033C>T uc001xqv.2 + 10 754 c.691C>T c.(691-693)CGG>TGG p.R231W DLST_uc001xqu.2_Missense_Mutation_p.R143W|DLST_uc001xqt.2_Missense_Mutation_p.R147W|DLST_uc010tuw.1_Missense_Mutation_p.R145W|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.R231W NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 231 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) GAACAGGATGCGGCAGCGCAT 0.468 FAM164C 79696 broad.mit.edu 37 14 75537864 75537864 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:75537864G>A uc001xri.2 + 2 761 c.588G>A c.(586-588)ACG>ACA p.T196T FAM164C_uc001xrh.2_Silent_p.T196T NM_001042430 NP_001035895 Q53FD0 F164C_HUMAN chromosome 14 open reading frame 140 isoform b 196 ovary(1) 1 TTGCTGCCACGCAGGCGGAGA 0.542 BATF 10538 broad.mit.edu 37 14 75991481 75991481 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:75991481G>A uc001xrr.2 + 2 360 c.118G>A c.(118-120)GCC>ACC p.A40T NM_006399 NP_006390 Q16520 BATF_HUMAN basic leucine zipper transcription factor, 40 Basic motif. nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.028) TCGTATTGCCGCCCAGAAGAG 0.527 TTLL5 23093 broad.mit.edu 37 14 76368497 76368497 + Silent SNP G G A rs142835737 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:76368497G>A uc001xrx.2 + 31 3958 c.3753G>A c.(3751-3753)GCG>GCA p.A1251A TTLL5_uc001xsa.2_Silent_p.A325A NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1251 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) GGTCCTCCGCGGAAGGGCAGC 0.577 C14orf179 112752 broad.mit.edu 37 14 76549611 76549611 + Silent SNP G G A rs143729954 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:76549611G>A uc010asm.1 + 8 520 c.486G>A c.(484-486)GCG>GCA p.A162A C14orf179_uc001xsg.2_Silent_p.A167A|C14orf179_uc010tve.1_RNA NM_001102564 NP_001096034 Q96FT9 IFT43_HUMAN hypothetical protein LOC112752 isoform 2 162 cilium morphogenesis|intraflagellar retrograde transport 0 BRCA - Breast invasive adenocarcinoma(234;0.0199) AAGTGCTCGCGCCGGAGCACG 0.582 C14orf4 64207 broad.mit.edu 37 14 77493111 77493111 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:77493111C>T uc001xsy.2 - 1 1924 c.1025G>A c.(1024-1026)CGC>CAC p.R342H NM_024496 NP_078772 Q9H1B7 I2BPL_HUMAN chromosome 14 open reading frame 4 342 Potential. nucleus 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878) CTTCAACTCGCGCTCCTGGTC 0.677 NRXN3 9369 broad.mit.edu 37 14 79181267 79181267 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:79181267G>A uc001xun.2 + 5 1201 c.710G>A c.(709-711)TGC>TAC p.C237Y NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.C371Y NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 610 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TACGTGGGCTGCATCCGCGAC 0.572 TSHR 7253 broad.mit.edu 37 14 81422185 81422185 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:81422185C>T uc001xvd.1 + 1 317 c.161C>T c.(160-162)ACG>ATG p.T54M C14orf145_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.T54M|TSHR_uc001xvc.2_Missense_Mutation_p.T54M|TSHR_uc010tvs.1_Missense_Mutation_p.T54M NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 54 Extracellular (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CCGCCCAGTACGCAGACTCTG 0.567 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism TSHR 7253 broad.mit.edu 37 14 81610680 81610680 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:81610680A>G uc001xvd.1 + 10 2434 c.2278A>G c.(2278-2280)ATG>GTG p.M760V NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 760 Cytoplasmic (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) AGAAGAGTATATGCAAACGGT 0.413 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism GTF2A1 2957 broad.mit.edu 37 14 81670341 81670341 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:81670341C>A uc001xvf.1 - 3 672 c.240G>T c.(238-240)CAG>CAT p.Q80H GTF2A1_uc010atb.1_Missense_Mutation_p.Q30H|GTF2A1_uc001xvg.1_Missense_Mutation_p.Q41H|GTF2A1_uc001xvh.1_Missense_Mutation_p.Q41H|SNORA79_uc001xvi.1_5'Flank NM_015859 NP_056943 P52655 TF2AA_HUMAN TFIIA alpha, p55 isoform 1 80 Poly-Gln. regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|transcription factor TFIIA complex DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0287) ggtggtgatgctgctgctgct 0.249 STON2 85439 broad.mit.edu 37 14 81743536 81743536 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:81743536G>A uc010tvu.1 - 4 2320 c.2119C>T c.(2119-2121)CTG>TTG p.L707L STON2_uc001xvk.1_Silent_p.L707L|STON2_uc010tvt.1_Silent_p.L504L NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 707 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) GACATCCTCAGCCAGCTCTGC 0.557 STON2 85439 broad.mit.edu 37 14 81837500 81837500 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:81837500A>G uc010tvu.1 - 3 604 c.403T>C c.(403-405)TGC>CGC p.C135R STON2_uc001xvk.1_Missense_Mutation_p.C135R NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 135 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) AAGGAAGGGCATGTCCAGCAG 0.473 CCDC88C 440193 broad.mit.edu 37 14 91770131 91770131 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:91770131G>A uc010aty.2 - 20 3648 c.3549C>T c.(3547-3549)GCC>GCT p.A1183A NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1183 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) CCTCGTACTCGGCCGATTGCC 0.642 CPSF2 53981 broad.mit.edu 37 14 92597333 92597333 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:92597333C>T uc001yah.1 + 3 242 c.5C>T c.(4-6)ACG>ATG p.T2M NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 2 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) AAAAAAATGACGTCTATTATC 0.343 C14orf109 26175 broad.mit.edu 37 14 93652935 93652935 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:93652935C>T uc010auo.2 + 2 787 c.429C>T c.(427-429)TGC>TGT p.C143C MOAP1_uc001ybj.2_5'Flank|C14orf109_uc001ybk.3_Silent_p.C105C NM_001098621 NP_001092091 Q8N6I4 CN109_HUMAN hypothetical protein LOC26175 isoform 1 137 integral to membrane 0 all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488) Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202) TCCCTATATGCTTGGCAGTTA 0.403 GSC 145258 broad.mit.edu 37 14 95235311 95235311 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:95235311C>T uc001ydu.2 - 2 746 c.599G>A c.(598-600)CGC>CAC p.R200H NM_173849 NP_776248 P56915 GSC_HUMAN goosecoid 200 Homeobox. gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) TTTCTCCTCGCGGAGGTGCAC 0.682 DICER1 23405 broad.mit.edu 37 14 95590985 95590985 + Silent SNP G G A rs142397473 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:95590985G>A uc001ydw.2 - 9 1106 c.924C>T c.(922-924)GCC>GCT p.A308A DICER1_uc001ydv.2_Silent_p.A298A|DICER1_uc001ydx.2_Silent_p.A308A NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 308 Required for interaction with PRKRA and TARBP2. 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) CTACCAATACGGCACGACAGT 0.383 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ ATG2B 55102 broad.mit.edu 37 14 96797967 96797967 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:96797967T>C uc001yfi.2 - 11 1841 c.1476A>G c.(1474-1476)CCA>CCG p.P492P NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 492 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CAGATCTAGATGGGAGAGCTA 0.279 BEGAIN 57596 broad.mit.edu 37 14 101005631 101005631 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:101005631G>A uc010txa.1 - 6 603 c.457C>T c.(457-459)CGC>TGC p.R153C BEGAIN_uc001yhp.2_Missense_Mutation_p.R89C|BEGAIN_uc001yhq.2_Missense_Mutation_p.R153C NM_001159531 NP_001153003 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 153 cytoplasm|membrane protein binding 0 Melanoma(154;0.212) AGGCTCACGCGCTCCTGGAAA 0.672 RTL1 388015 broad.mit.edu 37 14 101347381 101347381 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:101347381G>A uc010txj.1 - 1 3804 c.3745C>T c.(3745-3747)CAT>TAT p.H1249Y MIR431_hsa-mir-431|MI0001721_RNA|MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 1249 pancreas(1) 1 AGGCCGTCATGCAGGCCACAC 0.632 RTL1 388015 broad.mit.edu 37 14 101348236 101348236 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:101348236C>T uc010txj.1 - 1 2949 c.2890G>A c.(2890-2892)GTA>ATA p.V964I MIR433_hsa-mir-433|MI0001723_RNA|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 964 pancreas(1) 1 GGGAGAAGTACGGTGAGCCTG 0.552 MARK3 4140 broad.mit.edu 37 14 103941357 103941357 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:103941357C>T uc001ymz.3 + 13 1958 c.1292C>T c.(1291-1293)GCG>GTG p.A431V MARK3_uc001ymx.3_Missense_Mutation_p.A431V|MARK3_uc001ymw.3_Missense_Mutation_p.A431V|MARK3_uc001yna.3_Missense_Mutation_p.A415V|MARK3_uc001ymy.3_Missense_Mutation_p.A352V|MARK3_uc010awp.2_Missense_Mutation_p.A454V|MARK3_uc010tyb.1_Missense_Mutation_p.A226V|MARK3_uc010awq.2_5'UTR NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 431 ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) TCTGTTGTGGCGTATCCGAAA 0.398 MARK3 4140 broad.mit.edu 37 14 103941521 103941521 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:103941521C>T uc001ymz.3 + 13 2122 c.1456C>T c.(1456-1458)CGC>TGC p.R486C MARK3_uc001ymx.3_Missense_Mutation_p.R486C|MARK3_uc001ymw.3_Missense_Mutation_p.R486C|MARK3_uc001yna.3_Missense_Mutation_p.R470C|MARK3_uc001ymy.3_Missense_Mutation_p.R407C|MARK3_uc010awp.2_Missense_Mutation_p.R509C|MARK3_uc010tyb.1_Missense_Mutation_p.R281C|MARK3_uc010awq.2_Missense_Mutation_p.R16C NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 486 ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) TATTCCTGAACGCAAGAAAAG 0.478 KIF26A 26153 broad.mit.edu 37 14 104639382 104639382 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:104639382T>C uc001yos.3 + 8 1489 c.1489T>C c.(1489-1491)TCC>CCC p.S497P NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 497 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CTGCGCCATCTCCTGGCTCTT 0.687 ADSSL1 122622 broad.mit.edu 37 14 105206963 105206963 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:105206963G>A uc001ypd.2 + 6 576 c.502G>A c.(502-504)GGA>AGA p.G168R INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.G211R|ADSSL1_uc001ypf.2_RNA NM_152328 NP_689541 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 isoform 2 168 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GAAGGGAATCGGACCAACCTA 0.567 KIAA0284 283638 broad.mit.edu 37 14 105353032 105353032 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:105353032G>T uc010axb.2 + 12 2680 c.2456G>T c.(2455-2457)GGG>GTG p.G819V INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.G749V|KIAA0284_uc001yps.2_Missense_Mutation_p.G725V|KIAA0284_uc001ypt.2_5'Flank NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 819 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) CCAGGGGATGGGGAGGGCCTA 0.642 AHNAK2 113146 broad.mit.edu 37 14 105419601 105419601 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:105419601G>A uc010axc.1 - 7 2307 c.2187C>T c.(2185-2187)TCC>TCT p.S729S AHNAK2_uc001ypx.2_Silent_p.S629S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 729 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) CCAGGTCAGCGGAAGGGGTCT 0.652 MKRN3 7681 broad.mit.edu 37 15 23811911 23811911 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:23811911C>T uc001ywh.3 + 1 1458 c.982C>T c.(982-984)CGC>TGC p.R328C MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R328C NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 328 RING-type. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CAATGACCGCCGCTTTGGCAT 0.493 MAGEL2 54551 broad.mit.edu 37 15 23890382 23890382 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:23890382C>A uc001ywj.3 - 1 794 c.699G>T c.(697-699)TGG>TGT p.W233C NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GCTGTGGGACCCATGGAACTG 0.587 UBE3A 7337 broad.mit.edu 37 15 25601091 25601091 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:25601091T>C uc001zaq.2 - 7 2081 c.2081A>G c.(2080-2082)TAT>TGT p.Y694C uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.Y671C|UBE3A_uc001zas.2_Missense_Mutation_p.Y691C|UBE3A_uc001zat.2_Missense_Mutation_p.Y671C NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 694 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) CTTTAGATCATACATCATTGG 0.308 ATP10A 57194 broad.mit.edu 37 15 25972394 25972394 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:25972394T>C uc010ayu.2 - 4 866 c.760A>G c.(760-762)AAG>GAG p.K254E NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 254 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AGCCCGGCCTTTTTCCCGTTG 0.562 HERC2 8924 broad.mit.edu 37 15 28447365 28447365 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:28447365T>A uc001zbj.2 - 47 7617 c.7511A>T c.(7510-7512)GAC>GTC p.D2504V HERC2_uc001zbk.1_Missense_Mutation_p.D39V NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2504 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) GTCGGAGTGGTCCAGCAGCCA 0.587 HERC2 8924 broad.mit.edu 37 15 28465618 28465618 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:28465618G>A uc001zbj.2 - 37 5931 c.5825C>T c.(5824-5826)TCG>TTG p.S1942L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1942 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) CTCTGTGTCCGAATCCTCTGC 0.577 RYR3 6263 broad.mit.edu 37 15 34150026 34150026 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:34150026A>G uc001zhi.2 + 99 14123 c.14053A>G c.(14053-14055)ACT>GCT p.T4685A RYR3_uc010bar.2_Missense_Mutation_p.T4680A NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4685 Helical; Name=M8; (Potential). 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) TTATCTCTATACTGTGGTGGC 0.498 ZNF770 54989 broad.mit.edu 37 15 35273809 35273809 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:35273809A>G uc001ziw.2 - 3 2138 c.1827T>C c.(1825-1827)CCT>CCC p.P609P NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) AACTGCAAAAAGGATTGCTTT 0.423 EIF2AK4 440275 broad.mit.edu 37 15 40301865 40301865 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:40301865A>G uc001zkm.1 + 26 3677 c.3627A>G c.(3625-3627)ATA>ATG p.I1209M EIF2AK4_uc010bbj.1_Missense_Mutation_p.I910M|EIF2AK4_uc001zkn.1_Missense_Mutation_p.I309M|EIF2AK4_uc001zko.1_Missense_Mutation_p.I147M|EIF2AK4_uc010bbk.1_RNA NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 1209 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TGAAAGCAATACTCTTACACT 0.308 GANC 2595 broad.mit.edu 37 15 42632010 42632010 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:42632010A>G uc001zpi.2 + 17 2301 c.1987A>G c.(1987-1989)ACC>GCC p.T663A NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 663 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GGAGGAACACACCCGACTCAT 0.572 DUOXA1 90527 broad.mit.edu 37 15 45410170 45410170 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:45410170C>T uc001zup.2 - 10 1489 c.1089G>A c.(1087-1089)TGG>TGA p.W363* DUOXA2_uc001zuo.2_3'UTR|DUOXA2_uc010beb.2_RNA|DUOXA1_uc010uem.1_Nonsense_Mutation_p.W318*|DUOXA1_uc010bec.2_Nonsense_Mutation_p.W363* NM_144565 NP_653166 Q1HG43 DOXA1_HUMAN Numb-interacting protein Error:Variant_position_missing_in_Q1HG43_after_alignment protein transport endoplasmic reticulum membrane|integral to membrane ovary(1) 1 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) GCAGTGCCCGCCAGGCCTGGG 0.642 OREG0023102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SECISBP2L 9728 broad.mit.edu 37 15 49293144 49293144 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:49293144G>T uc001zxe.1 - 15 2312 c.2178C>A c.(2176-2178)ACC>ACA p.T726T SECISBP2L_uc001zxd.1_Silent_p.T681T|SECISBP2L_uc010bep.1_Silent_p.T488T NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 726 breast(1)|skin(1) 2 TCATATGTTTGGTAACTTCTC 0.378 GLDN 342035 broad.mit.edu 37 15 51693862 51693862 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:51693862A>G uc002aba.2 + 9 1269 c.1100A>G c.(1099-1101)TAC>TGC p.Y367C GLDN_uc002abb.2_Missense_Mutation_p.Y243C NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 367 Extracellular (Potential).|Olfactomedin-like. 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) CACCTTCCATACTATTTCCAT 0.493 OREG0023125 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYO5A 4644 broad.mit.edu 37 15 52689455 52689455 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:52689455T>C uc002aby.2 - 10 1506 c.1262A>G c.(1261-1263)CAG>CGG p.Q421R MYO5A_uc002abx.3_Missense_Mutation_p.Q421R|MYO5A_uc010uge.1_Missense_Mutation_p.Q290R NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 421 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) ATGGAGAGCCTGATTGACATT 0.448 NEDD4 4734 broad.mit.edu 37 15 56132872 56132872 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:56132872T>C uc002adj.2 - 16 3449 c.3149A>G c.(3148-3150)CAC>CGC p.H1050R NEDD4_uc002adl.2_Missense_Mutation_p.H631R|NEDD4_uc002adi.2_Missense_Mutation_p.H978R|NEDD4_uc010ugj.1_Missense_Mutation_p.H1034R|NEDD4_uc010bfm.2_Missense_Mutation_p.H1033R|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 1050 HECT. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GTAAGAGAGGTGATCTTCGTT 0.333 ADAM10 102 broad.mit.edu 37 15 58925422 58925422 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:58925422G>A uc002afd.1 - 9 1593 c.1149C>T c.(1147-1149)CAC>CAT p.H383H ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Silent_p.H82H|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 383 Peptidase M12B.|Extracellular (Potential). Zinc; catalytic. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) GTCCAACTTCGTGAGCAAAAG 0.318 DIS3L 115752 broad.mit.edu 37 15 66615118 66615118 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:66615118G>A uc010ujm.1 + 10 1435 c.1420G>A c.(1420-1422)GTA>ATA p.V474I DIS3L_uc010ujl.1_Missense_Mutation_p.V104I|DIS3L_uc002app.2_Missense_Mutation_p.V391I|DIS3L_uc002apq.2_Missense_Mutation_p.V474I|DIS3L_uc010bho.2_Missense_Mutation_p.V340I NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 474 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 AAGCCATCTCGTATTCAGCAT 0.458 CORO2B 10391 broad.mit.edu 37 15 69011084 69011084 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:69011084C>T uc002arj.3 + 9 1044 c.1015C>T c.(1015-1017)CGC>TGC p.R339C CORO2B_uc010bic.2_Missense_Mutation_p.R334C|CORO2B_uc002ark.2_Missense_Mutation_p.R106C NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 339 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 CGAGGTGTTCCGCTTCTACAA 0.627 MYO9A 4649 broad.mit.edu 37 15 72172765 72172765 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:72172765A>T uc002atl.3 - 29 6006 c.5533T>A c.(5533-5535)TTG>ATG p.L1845M MYO9A_uc002atk.2_Missense_Mutation_p.L640M|MYO9A_uc002atm.1_Missense_Mutation_p.L641M NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1845 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 ATAGAATCCAAAGCCACGTTG 0.428 CELF6 60677 broad.mit.edu 37 15 72580753 72580753 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:72580753T>C uc002auh.2 - 11 1524 c.1214A>G c.(1213-1215)CAG>CGG p.Q405R uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Missense_Mutation_p.Q292R|CELF6_uc010ukl.1_Missense_Mutation_p.Q268R|CELF6_uc010ukm.1_Missense_Mutation_p.Q378R|CELF6_uc002aui.2_Missense_Mutation_p.Q511R|CELF6_uc002auj.2_Missense_Mutation_p.Q292R NM_052840 NP_443072 Q96J87 CELF6_HUMAN bruno-like 6, RNA binding protein 405 RRM 3. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 ACCAAACTCCTGAGGCAGGTG 0.547 C15orf59 388135 broad.mit.edu 37 15 74032759 74032759 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:74032759A>G uc002avy.2 - 2 726 c.381T>C c.(379-381)GGT>GGC p.G127G NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 127 pancreas(1) 1 TCGACTCGGGACCATCCACGG 0.632 CCDC33 80125 broad.mit.edu 37 15 74573063 74573063 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:74573063C>T uc002axo.2 + 9 1338 c.944C>T c.(943-945)CCG>CTG p.P315L CCDC33_uc002axp.2_Missense_Mutation_p.P137L NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 518 protein binding ovary(3)|skin(2) 5 TCTGTGTTGCCGCTAAAGAGC 0.612 TMED3 23423 broad.mit.edu 37 15 79606185 79606185 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:79606185C>T uc002beu.2 + 2 356 c.255C>T c.(253-255)TAC>TAT p.Y85Y TMED3_uc010unj.1_Silent_p.Y85Y|TMED3_uc002bev.2_RNA NM_007364 NP_031390 Q9Y3Q3 TMED3_HUMAN transmembrane emp24 domain containing 3 85 Lumenal (Potential).|GOLD. protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane ovary(1)|skin(1) 2 AGAAGCAGTACGACAGCTTCA 0.483 MEX3B 84206 broad.mit.edu 37 15 82336563 82336563 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:82336563G>A uc002bgq.1 - 2 963 c.648C>T c.(646-648)CGC>CGT p.R216R NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 216 KH 2. protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 CCTCTCGAGCGCGATCCACGT 0.612 AP3B2 8120 broad.mit.edu 37 15 83349406 83349406 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:83349406G>A uc010uoh.1 - 8 1050 c.873C>T c.(871-873)CCC>CCT p.P291P AP3B2_uc010uoi.1_Silent_p.P291P|AP3B2_uc010uoj.1_Silent_p.P259P|AP3B2_uc010uog.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 291 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) GCTTTCGGGAGGGGGCGGCCG 0.677 ADAMTSL3 57188 broad.mit.edu 37 15 84488696 84488696 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:84488696A>G uc002bjz.3 + 6 721 c.497A>G c.(496-498)CAT>CGT p.H166R ADAMTSL3_uc002bjy.1_Missense_Mutation_p.H166R|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.H166R|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.H166R NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 166 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CTCAAGTGTCATGCACAAGGA 0.502 AEN 64782 broad.mit.edu 37 15 89169602 89169602 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:89169602C>T uc002bmt.2 + 2 313 c.162C>T c.(160-162)AGC>AGT p.S54S AEN_uc010bnl.2_Silent_p.S54S|AEN_uc010bnm.1_Silent_p.S54S NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene 54 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 GGCTGCTGAGCATGCCTCCAG 0.627 ABHD2 11057 broad.mit.edu 37 15 89719194 89719194 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:89719194C>T uc002bnj.2 + 11 1607 c.690C>T c.(688-690)TGC>TGT p.C230C ABHD2_uc002bnk.2_Silent_p.C230C NM_007011 NP_008942 P08910 ABHD2_HUMAN alpha/beta hydrolase domain containing protein 230 integral to membrane carboxylesterase activity ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) TCCTGTGCTGCGTCAGCGTGT 0.567 C15orf42 90381 broad.mit.edu 37 15 90170282 90170282 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:90170282A>G uc002boe.2 + 22 5698 c.5698A>G c.(5698-5700)AAG>GAG p.K1900E C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1900 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TTATACACGGAAGAAGCTCAT 0.498 AP3S2 10239 broad.mit.edu 37 15 90446505 90446505 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:90446505C>T uc002bos.3 - 5 770 c.615G>A c.(613-615)TCG>TCA p.S205S C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Silent_p.S205S NM_182616 NP_872422 P59780 AP3S2_HUMAN hypothetical protein LOC348110 Error:Variant_position_missing_in_P59780_after_alignment intracellular protein transport|vesicle-mediated transport cytoplasmic vesicle membrane|Golgi apparatus|membrane coat protein transporter activity 0 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) CAGCCCCCTTCGAACACTTTT 0.562 TTLL13 440307 broad.mit.edu 37 15 90794020 90794020 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:90794020C>A uc002bpd.1 + 2 446 c.158C>A c.(157-159)CCC>CAC p.P53H TTLL13_uc002bpe.1_RNA NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 53 protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) AATGGGGTTCCCTCACCCATT 0.473 ZNF774 342132 broad.mit.edu 37 15 90903582 90903582 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:90903582C>T uc002bpk.3 + 4 705 c.519C>T c.(517-519)CAC>CAT p.H173H NM_001004309 NP_001004309 Q6NX45 ZN774_HUMAN zinc finger protein 774 173 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TAAGAACCCACACTGGCGAGA 0.498 ADAMTS17 170691 broad.mit.edu 37 15 100739577 100739577 + Missense_Mutation SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:100739577G>C uc002bvv.1 - 8 1206 c.1127C>G c.(1126-1128)GCC>GGC p.A376G ADAMTS17_uc002bvx.1_Missense_Mutation_p.A133G NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 376 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) ATTGTCTTCGGCAAGCACACA 0.488 ADAMTS17 170691 broad.mit.edu 37 15 100801716 100801716 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:100801716C>T uc002bvv.1 - 6 1078 c.999G>A c.(997-999)CCG>CCA p.P333P ADAMTS17_uc002bvx.1_Silent_p.P90P NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 333 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CCACCAGGGGCGGGTCGTCCT 0.562 TARSL2 123283 broad.mit.edu 37 15 102241308 102241308 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:102241308G>A uc002bxm.2 - 10 1356 c.1301C>T c.(1300-1302)ACG>ATG p.T434M TARSL2_uc002bxl.2_Translation_Start_Site|TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 434 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATCTGTAAGCGTATTATAAAT 0.308 TARSL2 123283 broad.mit.edu 37 15 102263369 102263369 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:102263369T>C uc002bxm.2 - 2 353 c.298_splice c.e2-1 p.P100_splice TARSL2_uc010usi.1_Splice_Site NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGGAGGAGGCTGAAAGATAAA 0.418 LUC7L 55692 broad.mit.edu 37 16 277242 277242 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:277242G>A uc002cgc.1 - 2 266 c.155C>T c.(154-156)ACG>ATG p.T52M LUC7L_uc002cga.1_Missense_Mutation_p.T52M|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.T52M|LUC7L_uc010bqq.1_3'UTR NM_201412 NP_958815 Q9NQ29 LUC7L_HUMAN LUC7-like isoform b 52 metal ion binding central_nervous_system(1) 1 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) TGCACCTACCGTCCCAGCCAG 0.478 RAB40C 57799 broad.mit.edu 37 16 676026 676026 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:676026C>A uc002chr.2 + 5 586 c.470C>A c.(469-471)CCC>CAC p.P157H RAB40C_uc002chq.2_Missense_Mutation_p.P138H NM_021168 NP_066991 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 157 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Hepatocellular(780;0.0218) GAGGTCAGCCCCCTGTGCAAC 0.617 UBE2I 7329 broad.mit.edu 37 16 1374749 1374749 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:1374749C>T uc002clc.1 + 7 536 c.432C>T c.(430-432)TAC>TAT p.Y144Y UBE2I_uc002cld.1_Silent_p.Y144Y|UBE2I_uc002clf.1_Silent_p.Y144Y|UBE2I_uc002clg.1_Silent_p.Y144Y NM_194261 NP_919237 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 144 cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|skin(1) 2 Hepatocellular(780;0.00369) GAGTGGAGTACGAGAAAAGGG 0.552 HS3ST6 64711 broad.mit.edu 37 16 1961936 1961936 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:1961936G>A uc002cnf.2 - 2 591 c.591C>T c.(589-591)TAC>TAT p.Y197Y NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 197 0 GGTGCTGGGCGTACAGGCCGA 0.721 TBL3 10607 broad.mit.edu 37 16 2026277 2026277 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:2026277C>T uc002cnu.1 + 13 1356 c.1254C>T c.(1252-1254)TCC>TCT p.S418S TBL3_uc002cnv.1_Silent_p.S304S|TBL3_uc010bsb.1_Silent_p.S207S|TBL3_uc010bsc.1_Intron|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank NM_006453 NP_006444 Q12788 TBL3_HUMAN transducin beta-like 3 418 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity 0 CTCAGGGTTCCGGTCACACAC 0.637 TSC2 7249 broad.mit.edu 37 16 2131669 2131669 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:2131669G>A uc002con.2 + 31 3790 c.3684G>A c.(3682-3684)CTG>CTA p.L1228L TSC2_uc010bsd.2_Silent_p.L1228L|TSC2_uc002coo.2_Silent_p.L1184L|TSC2_uc010uvv.1_Silent_p.L1148L|TSC2_uc010uvw.1_Silent_p.L1136L|TSC2_uc002cop.2_Silent_p.L984L|TSC2_uc002coq.2_5'Flank|TSC2_uc002cor.2_5'Flank NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 1228 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) ACATGCCCCTGCAGGAGCTGT 0.637 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis TSC2 7249 broad.mit.edu 37 16 2136307 2136307 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:2136307G>A uc002con.2 + 37 4882 c.4776G>A c.(4774-4776)GTG>GTA p.V1592V TSC2_uc010bsd.2_Silent_p.V1569V|TSC2_uc002coo.2_Silent_p.V1525V|TSC2_uc010uvv.1_Silent_p.V1489V|TSC2_uc010uvw.1_Silent_p.V1477V|TSC2_uc002cop.2_Silent_p.V1348V|TSC2_uc002coq.2_Silent_p.V367V|TSC2_uc002cor.2_Silent_p.V293V NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 1592 Rap-GAP. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) CGGACAAGGTGTACCTGGGAG 0.627 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis PDPK1 5170 broad.mit.edu 37 16 2636711 2636711 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:2636711A>G uc002cqs.2 + 11 1304 c.1160A>G c.(1159-1161)CAG>CGG p.Q387R PDPK1_uc002cqt.2_Missense_Mutation_p.Q260R|PDPK1_uc010bsn.2_Missense_Mutation_p.Q387R|PDPK1_uc002cqu.2_Missense_Mutation_p.Q360R NM_002613 NP_002604 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 387 actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|ovary(1) 3 Ovarian(90;0.17) Celecoxib(DB00482) GGCTGCATGCAGGTGTCTTCG 0.557 PRSS22 64063 broad.mit.edu 37 16 2906205 2906205 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:2906205G>A uc002cry.1 - 3 225 c.159C>T c.(157-159)GGC>GGT p.G53G PRSS22_uc002crz.1_Silent_p.G53G NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN protease, serine, 22 precursor 53 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 TGCTGTCCTCGCCGCCCACAA 0.572 ZNF205 7755 broad.mit.edu 37 16 3169648 3169648 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:3169648G>A uc002cub.2 + 7 1122 c.987G>A c.(985-987)ACG>ACA p.T329T ZNF205_uc002cua.2_Silent_p.T329T NM_001042428 NP_001035893 O95201 ZN205_HUMAN zinc finger protein 205 329 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 ACCGGCGCACGCACACGGGCG 0.677 ZNF213 7760 broad.mit.edu 37 16 3191136 3191136 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:3191136G>A uc010uws.1 + 6 1615 c.1168G>A c.(1168-1170)GAC>AAC p.D390N ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.D390N|ZNF213_uc010uwt.1_3'UTR NM_004220 NP_004211 O14771 ZN213_HUMAN zinc finger protein 213 390 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTACCTGGCCGACCACCAGCG 0.662 MEFV 4210 broad.mit.edu 37 16 3293377 3293377 + Missense_Mutation SNP C C T rs104895096 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:3293377C>T uc002cun.1 - 10 2150 c.2110G>A c.(2110-2112)GTT>ATT p.V704I NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 704 B30.2/SPRY. V -> I (in arFMF). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) GTCGGGGGAACGCTGGACGCC 0.517 MEFV 4210 broad.mit.edu 37 16 3304678 3304678 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:3304678G>A uc002cun.1 - 2 430 c.390C>T c.(388-390)AAC>AAT p.N130N NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 130 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) GCCGAGGGCCGTTCCCCTCGT 0.677 ZNF434 54925 broad.mit.edu 37 16 3434756 3434756 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:3434756G>T uc002cuz.2 - 5 1103 c.301C>A c.(301-303)CTA>ATA p.L101I ZNF434_uc002cux.3_Missense_Mutation_p.L312I|ZNF434_uc010uwx.1_Missense_Mutation_p.L24I|ZNF434_uc002cuy.3_Missense_Mutation_p.L24I|ZNF434_uc010uwy.1_Missense_Mutation_p.L24I|ZNF434_uc010uwz.1_Missense_Mutation_p.L312I|ZNF434_uc010uxa.1_Missense_Mutation_p.L101I NM_017810 NP_060280 Q9NX65 ZN434_HUMAN zinc finger protein 434 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CTCAACTGTAGGCTTTTGAAC 0.542 BTBD12 84464 broad.mit.edu 37 16 3641099 3641099 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:3641099T>C uc002cvp.2 - 12 3167 c.2540A>G c.(2539-2541)AAT>AGT p.N847S NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 847 Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TTCTGCTTCATTCACGTTTTC 0.483 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia CORO7 79585 broad.mit.edu 37 16 4409528 4409528 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:4409528G>T uc002cwh.3 - 22 2323 c.2203C>A c.(2203-2205)CTG>ATG p.L735M CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.L735M|CORO7_uc002cwg.3_Missense_Mutation_p.L515M|CORO7_uc010uxh.1_Missense_Mutation_p.L717M|CORO7_uc010uxi.1_Missense_Mutation_p.L650M|CORO7_uc002cwi.1_Missense_Mutation_p.L515M NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 735 WD 8. cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 TAGCTGGGCAGCAGGGTTGAG 0.672 OREG0023580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GLYR1 84656 broad.mit.edu 37 16 4861222 4861222 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:4861222C>T uc002cxx.3 - 15 1573 c.1536G>A c.(1534-1536)GCG>GCA p.A512A GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.A426A|GLYR1_uc002cya.2_Silent_p.A506A|GLYR1_uc010uxv.1_Silent_p.A431A NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 512 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 CATCACCCAGCGCAATGGCTA 0.478 ALG1 56052 broad.mit.edu 37 16 5123189 5123189 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:5123189G>A uc002cym.2 + 3 363 c.322G>A c.(322-324)GTA>ATA p.V108I ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.V108I|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR NM_019109 NP_061982 Q9BT22 ALG1_HUMAN beta-1,4-mannosyltransferase 108 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(90;0.0164) AGTCAAAGTTGTACTTCAGGC 0.507 TXNDC11 51061 broad.mit.edu 37 16 11792005 11792005 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:11792005G>A uc010buu.1 - 8 1226 c.1164C>T c.(1162-1164)GCC>GCT p.A388A TXNDC11_uc002dbg.1_Silent_p.A361A NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 388 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 GATGACTTTCGGCCAGGGGAT 0.507 ABCC1 4363 broad.mit.edu 37 16 16130382 16130382 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:16130382T>C uc010bvi.2 + 7 906 c.731T>C c.(730-732)TTA>TCA p.L244S ABCC1_uc010bvj.2_Missense_Mutation_p.L244S|ABCC1_uc010bvk.2_Missense_Mutation_p.L244S|ABCC1_uc010bvl.2_Missense_Mutation_p.L244S|ABCC1_uc010bvm.2_Missense_Mutation_p.L244S|ABCC1_uc002del.3_Missense_Mutation_p.L128S|ABCC1_uc010bvn.2_Missense_Mutation_p.L107S NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 244 Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CTCTGGTCCTTAAACAAGGAG 0.537 ACSM2A 123876 broad.mit.edu 37 16 20491904 20491904 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:20491904G>A uc010bwe.2 + 12 1530 c.1291G>A c.(1291-1293)GAC>AAC p.D431N ACSM2A_uc010vax.1_Missense_Mutation_p.D352N|ACSM2A_uc002dhf.3_Missense_Mutation_p.D431N|ACSM2A_uc002dhg.3_Missense_Mutation_p.D431N|ACSM2A_uc010vay.1_Missense_Mutation_p.D352N|ACSM2A_uc002dhh.3_Missense_Mutation_p.D61N NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 431 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GGACAATCCCGACAAGACAGC 0.493 DNAH3 55567 broad.mit.edu 37 16 21123071 21123071 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:21123071C>T uc010vbe.1 - 14 1975 c.1975G>A c.(1975-1977)GTG>ATG p.V659M DNAH3_uc002die.2_Missense_Mutation_p.V599M NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 659 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) GCTAAAGGCACGGTGATGTTC 0.438 UQCRC2 7385 broad.mit.edu 37 16 21974140 21974140 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:21974140G>A uc002djx.2 + 6 584 c.448G>A c.(448-450)GAA>AAA p.E150K UQCRC2_uc002djy.2_Missense_Mutation_p.E150K|UQCRC2_uc010bxa.2_RNA|UQCRC2_uc002djz.1_Missense_Mutation_p.E17K NM_003366 NP_003357 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 150 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding large_intestine(2) 2 GBM - Glioblastoma multiforme(48;0.0264) TCGTCGTTGGGAAGTAGCTGA 0.413 EEF2K 29904 broad.mit.edu 37 16 22291579 22291579 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:22291579T>C uc002dki.2 + 17 2435 c.1950T>C c.(1948-1950)TGT>TGC p.C650C EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 650 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) TGACGGACTGTGATGAGGGCG 0.597 PLK1 5347 broad.mit.edu 37 16 23701317 23701317 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:23701317A>G uc002dlz.1 + 10 1798 c.1745A>G c.(1744-1746)TAC>TGC p.Y582C NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 582 POLO box 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) CGGCTCCGCTACGCCCGCACT 0.647 TNRC6A 27327 broad.mit.edu 37 16 24803029 24803029 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:24803029G>T uc002dmm.2 + 6 3180 c.3066G>T c.(3064-3066)TGG>TGT p.W1022C TNRC6A_uc010bxs.2_Missense_Mutation_p.W769C|TNRC6A_uc010vcc.1_Missense_Mutation_p.W769C|TNRC6A_uc002dmn.2_Missense_Mutation_p.W769C|TNRC6A_uc002dmo.2_Missense_Mutation_p.W769C NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1022 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TGAACATGTGGAACAAAAACG 0.458 TNRC6A 27327 broad.mit.edu 37 16 24815588 24815588 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:24815588G>A uc002dmm.2 + 12 3899 c.3785G>A c.(3784-3786)CGG>CAG p.R1262Q TNRC6A_uc010bxs.2_Missense_Mutation_p.R1009Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1009Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R950Q|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1262 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) CCTGGTTCTCGGCCTCAGATT 0.388 TNRC6A 27327 broad.mit.edu 37 16 24817552 24817552 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:24817552C>T uc002dmm.2 + 16 4391 c.4277C>T c.(4276-4278)GCG>GTG p.A1426V TNRC6A_uc010bxs.2_Missense_Mutation_p.A1173V|TNRC6A_uc002dmn.2_Missense_Mutation_p.A1124V|TNRC6A_uc002dmo.2_Missense_Mutation_p.A1065V|TNRC6A_uc002dmp.2_Missense_Mutation_p.A27V|TNRC6A_uc002dmq.2_Missense_Mutation_p.A93V NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1426 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) CAGCAAAGGGCGCAGAGTCAG 0.507 JMJD5 79831 broad.mit.edu 37 16 27232030 27232030 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:27232030G>T uc002doh.2 + 8 1412 c.1230G>T c.(1228-1230)TCG>TCT p.S410S JMJD5_uc010vcn.1_Silent_p.S448S|JMJD5_uc010bxw.2_Silent_p.S214S|JMJD5_uc010bxx.2_RNA NM_024773 NP_079049 Q8N371 KDM8_HUMAN jumonji domain containing 5 isoform 2 410 JmjC. G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(2)|upper_aerodigestive_tract(1) 3 TGAGCTTCTCGGTCAGCTTCT 0.527 KIAA0556 23247 broad.mit.edu 37 16 27751366 27751366 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:27751366T>C uc002dow.2 + 15 1772 c.1748T>C c.(1747-1749)CTT>CCT p.L583P NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 583 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 TTTCAGGATCTTGACATTGGT 0.403 SRCAP 10847 broad.mit.edu 37 16 30750430 30750430 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:30750430C>T uc002dze.1 + 34 9454 c.9069C>T c.(9067-9069)CCC>CCT p.P3023P SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.P2818P NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 3023 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GCCAGCTCCCCGTCTTGGACC 0.607 SLC5A2 6524 broad.mit.edu 37 16 31499991 31499991 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:31499991C>T uc002ecf.3 + 10 1197 c.1178C>T c.(1177-1179)TCG>TTG p.S393L SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 393 Extracellular (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 CTCATGTCCTCGCTGGCCTCC 0.706 VPS35 55737 broad.mit.edu 37 16 46696158 46696158 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:46696158C>A uc002eef.3 - 15 2163 c.2064G>T c.(2062-2064)GAG>GAT p.E688D VPS35_uc002eed.2_Missense_Mutation_p.E509D|VPS35_uc002eee.2_Missense_Mutation_p.E649D NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 688 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) ACCTTACCTCCTCCCCATTTT 0.493 NETO2 81831 broad.mit.edu 37 16 47165884 47165884 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:47165884G>A uc002eer.1 - 2 472 c.87C>T c.(85-87)ACC>ACT p.T29T NETO2_uc002ees.1_Silent_p.T29T NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 29 Extracellular (Potential). integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CTTTACCTTGGGTTTTTTGGG 0.363 HNSCC(25;0.065) ZNF423 23090 broad.mit.edu 37 16 49670272 49670272 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:49670272T>C uc002efs.2 - 5 3089 c.2791A>G c.(2791-2793)AAG>GAG p.K931E ZNF423_uc010vgn.1_Missense_Mutation_p.K814E NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 931 C2H2-type 22. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) ACGTTGCACTTGTGACTGCCC 0.592 IRX6 79190 broad.mit.edu 37 16 55363169 55363169 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:55363169T>C uc002ehy.2 + 5 1812 c.1279T>C c.(1279-1281)TGC>CGC p.C427R IRX6_uc002ehx.2_Missense_Mutation_p.C427R NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 427 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 CTGTGCGCCGTGCCCGCGGAG 0.617 MT2A 4502 broad.mit.edu 37 16 56643249 56643249 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:56643249T>C uc002ejh.2 + 3 259 c.169T>C c.(169-171)TGC>CGC p.C57R MT1A_uc002eji.2_Intron NM_005953 NP_005944 P02795 MT2_HUMAN metallothionein 2A 57 Alpha. Divalent metal cation; cluster A. cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway metal ion binding|protein binding 0 GTCGGACAAGTGCAGCTGCTG 0.617 NLRC5 84166 broad.mit.edu 37 16 57067548 57067548 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:57067548G>T uc002ekk.1 + 12 2735 c.2510G>T c.(2509-2511)AGG>ATG p.R837M NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R586M|NLRC5_uc002ekl.2_Missense_Mutation_p.R642M|NLRC5_uc002ekm.2_Missense_Mutation_p.R642M|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_5'Flank NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 837 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) GACGGCCAGAGGAAAGGGGCT 0.552 CNOT1 23019 broad.mit.edu 37 16 58619303 58619303 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:58619303T>C uc002env.2 - 8 1038 c.745A>G c.(745-747)ACC>GCC p.T249A CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.T249A|CNOT1_uc002enx.2_Missense_Mutation_p.T249A|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 249 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) TCCATCATGGTTTTAGCTACC 0.458 CDH11 1009 broad.mit.edu 37 16 64981761 64981761 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:64981761G>A uc002eoi.2 - 13 2570 c.2136C>T c.(2134-2136)CCC>CCT p.P712P CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Silent_p.P586P NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 712 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCACGCTGTTGGGCGCTGGCC 0.512 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) CMTM3 123920 broad.mit.edu 37 16 66643409 66643409 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:66643409G>A uc002epu.2 + 4 634 c.375G>A c.(373-375)TCG>TCA p.S125S CMTM3_uc002epv.2_Silent_p.S125S|CMTM3_uc002epw.2_Silent_p.S125S|CMTM3_uc002epx.2_Silent_p.S125S|CMTM3_uc002epy.2_RNA NM_001048251 NP_001041716 Q96MX0 CKLF3_HUMAN chemokine-like factor superfamily 3 125 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164) CCAAGTACTCGGATGGGGCTT 0.632 CA7 766 broad.mit.edu 37 16 66880978 66880978 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:66880978G>A uc002eqi.2 + 2 195 c.86G>A c.(85-87)CGC>CAC p.R29H uc002eqh.2_Intron|CA7_uc002eqj.2_5'UTR NM_005182 NP_005173 P43166 CAH7_HUMAN carbonic anhydrase VII isoform 1 29 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CAGGGAGATCGCCAATCACCC 0.592 CES8 283848 broad.mit.edu 37 16 67040713 67040713 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:67040713C>T uc002eqv.2 + 11 1343 c.1300C>T c.(1300-1302)CGC>TGC p.R434C CES8_uc010vix.1_Intron|CES8_uc002eqw.2_Intron|CES8_uc002eqy.2_Missense_Mutation_p.R406C|CES8_uc002eqx.2_Missense_Mutation_p.R310C|CES8_uc010viy.1_Intron|CES8_uc010viz.1_Missense_Mutation_p.R406C|CES8_uc002eqz.2_Intron NM_173815 NP_776176 Q5XG92 EST4A_HUMAN carboxylesterase 8 (putative) 504 extracellular region carboxylesterase activity 0 CAACTTTGCCCGCACAGGGTG 0.567 EXOC3L 283849 broad.mit.edu 37 16 67221443 67221443 + Missense_Mutation SNP C C T rs141744902 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:67221443C>T uc002erx.1 - 5 966 c.725G>A c.(724-726)CGG>CAG p.R242Q EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.R186Q|EXOC3L_uc010vje.1_Missense_Mutation_p.R181Q NM_178516 NP_848611 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 242 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616) ACGCCAGTCCCGGGGGACCTG 0.692 PLEKHG4 25894 broad.mit.edu 37 16 67314806 67314806 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:67314806G>A uc002eso.3 + 3 3152 c.617G>A c.(616-618)CGG>CAG p.R206Q PLEKHG4_uc002esp.3_Missense_Mutation_p.R13Q|PLEKHG4_uc002esq.3_Missense_Mutation_p.R206Q|PLEKHG4_uc002esr.1_Missense_Mutation_p.R54Q|PLEKHG4_uc010cef.2_Missense_Mutation_p.R206Q|PLEKHG4_uc002ess.3_Missense_Mutation_p.R206Q|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R125Q NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 206 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GTCCAAGGCCGGGCAGTGCTG 0.647 HSD11B2 3291 broad.mit.edu 37 16 67470195 67470195 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:67470195A>C uc002etd.2 + 4 824 c.708A>C c.(706-708)AAA>AAC p.K236N NM_000196 NP_000187 P80365 DHI2_HUMAN hydroxysteroid (11-beta) dehydrogenase 2 236 glucocorticoid biosynthetic process endoplasmic reticulum|microsome 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891) NADH(DB00157) GAACCTCCAAAGCGGCCGTGG 0.577 ATP6V0D1 9114 broad.mit.edu 37 16 67477028 67477028 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:67477028C>T uc002ete.1 - 4 635 c.535G>A c.(535-537)GAG>AAG p.E179K ATP6V0D1_uc010vjo.1_Missense_Mutation_p.E220K|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.E102K NM_004691 NP_004682 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal, V0 subunit 179 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) CGGATGATCTCGATGTTCATC 0.572 CTCF 10664 broad.mit.edu 37 16 67670738 67670738 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:67670738G>A uc002etl.2 + 11 2273 c.1983G>A c.(1981-1983)CAG>CAA p.Q661Q CTCF_uc010cek.2_Silent_p.Q333Q|CTCF_uc002etm.1_Silent_p.Q150Q NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 661 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GAACCAACCAGCCCAAACAGA 0.597 RANBP10 57610 broad.mit.edu 37 16 67763281 67763281 + Silent SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:67763281G>C uc002eud.2 - 10 1370 c.1254C>G c.(1252-1254)TCC>TCG p.S418S RANBP10_uc010ceo.2_Silent_p.S189S|RANBP10_uc010vju.1_Silent_p.S362S|RANBP10_uc010vjv.1_Silent_p.S301S|RANBP10_uc010vjw.1_Silent_p.S79S NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 418 Ser-rich. ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) aagaggacgaggaggaggagg 0.408 PSKH1 5681 broad.mit.edu 37 16 67943103 67943103 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:67943103C>T uc002euv.2 + 2 621 c.451C>T c.(451-453)CGT>TGT p.R151C PSKH1_uc010cet.2_Missense_Mutation_p.R151C NM_006742 NP_006733 P11801 KPSH1_HUMAN protein serine kinase H1 151 Protein kinase. endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane ATP binding|protein serine/threonine kinase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128) GCGTCGGGTGCGTCATGCCAA 0.612 SLC7A6 9057 broad.mit.edu 37 16 68308738 68308738 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:68308738G>A uc002evt.1 + 4 418 c.109G>A c.(109-111)GAA>AAA p.E37K SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.E37K|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA NM_001076785 NP_001070253 Q92536 YLAT2_HUMAN solute carrier family 7 (cationic amino acid 37 Cytoplasmic (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) AAGGTCCTCCGAAACTATGCA 0.577 SMPD3 55512 broad.mit.edu 37 16 68405541 68405541 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:68405541C>T uc002ewa.2 - 3 966 c.544G>A c.(544-546)GCT>ACT p.A182T SMPD3_uc010cfe.2_Missense_Mutation_p.A182T|SMPD3_uc010vlh.1_Missense_Mutation_p.A182T NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN neutral sphingomyelin phosphodiesterase 3 182 Lumenal (Potential). cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CTGAAGCTAGCGGCGCTGATG 0.637 HAS3 3038 broad.mit.edu 37 16 69143627 69143627 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:69143627G>A uc010cfh.2 + 2 553 c.329G>A c.(328-330)CGC>CAC p.R110H HAS3_uc002ewk.2_Missense_Mutation_p.R110H|HAS3_uc010vlk.1_Missense_Mutation_p.R110H|HAS3_uc002ewl.2_Missense_Mutation_p.R110H NM_005329 NP_005320 O00219 HAS3_HUMAN hyaluronan synthase 3 isoform a 110 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) TCGGCCCAGCGCATCTCCTTC 0.657 TERF2 7014 broad.mit.edu 37 16 69404408 69404408 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:69404408T>C uc002exd.2 - 5 817 c.692A>G c.(691-693)GAC>GGC p.D231G TERF2_uc002exe.2_Missense_Mutation_p.D231G NM_005652 NP_005643 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 231 TRFH dimerization. age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity lung(1) 1 Ovarian(137;0.101) GGGCTCGGCGTCATCCAGGTG 0.517 COG4 25839 broad.mit.edu 37 16 70517769 70517769 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:70517769C>T uc002ezc.2 - 14 1825 c.1814G>A c.(1813-1815)CGA>CAA p.R605Q COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Missense_Mutation_p.R61Q|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R584Q|COG4_uc002eze.2_Missense_Mutation_p.R299Q NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 601 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) CAAGAGGTCTCGGAATTTGTT 0.552 SF3B3 23450 broad.mit.edu 37 16 70590798 70590798 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:70590798C>A uc002ezf.2 + 15 2087 c.1876C>A c.(1876-1878)CAA>AAA p.Q626K NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 626 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) GGACTGTTTGCAACCTCTAAG 0.448 DHX38 9785 broad.mit.edu 37 16 72143405 72143405 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:72143405G>A uc002fcb.2 + 25 3828 c.3473G>A c.(3472-3474)CGG>CAG p.R1158Q DHX38_uc010vmp.1_Missense_Mutation_p.R470Q NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 1158 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) GGCAAGTCACGGCAGGTGAGG 0.597 ADAMTS18 170692 broad.mit.edu 37 16 77356327 77356327 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:77356327T>C uc002ffc.3 - 14 2488 c.2069A>G c.(2068-2070)AAC>AGC p.N690S ADAMTS18_uc010chc.1_Missense_Mutation_p.N278S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.N386S NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 690 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 AAATTCAAAGTTCTCAGCCTT 0.388 SLC38A8 146167 broad.mit.edu 37 16 84067036 84067036 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:84067036G>A uc002fhg.1 - 3 427 c.427C>T c.(427-429)CAG>TAG p.Q143* NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 143 amino acid transport|sodium ion transport integral to membrane 0 TACCACGGCTGCGGGGCGGGC 0.657 MBTPS1 8720 broad.mit.edu 37 16 84126839 84126839 + Missense_Mutation SNP G G A rs149564178 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:84126839G>A uc002fhi.2 - 6 1302 c.800C>T c.(799-801)GCT>GTT p.A267V NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 267 Serine protease.|Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 TGCATCTGGAGCAAATCCTTG 0.438 ANKRD11 29123 broad.mit.edu 37 16 89383423 89383423 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:89383423G>A uc002fmx.1 - 3 466 c.5C>T c.(4-6)CCC>CTC p.P2L ANKRD11_uc002fmy.1_Missense_Mutation_p.P2L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P2L|ANKRD11_uc002fnd.2_5'UTR|ANKRD11_uc002fne.2_5'UTR|ANKRD11_uc002fng.1_Missense_Mutation_p.P2L|ANKRD11_uc002fnf.1_Missense_Mutation_p.P2L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2 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) CCCACCCTTGGGCATCGTCCT 0.542 FANCA 2175 broad.mit.edu 37 16 89857811 89857811 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:89857811C>A uc002fou.1 - 14 1401 c.1359G>T c.(1357-1359)AAG>AAT p.K453N FANCA_uc010vpn.1_Missense_Mutation_p.K453N NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 453 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) GGTCACTTACCTTGAACCAGT 0.572 D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia TUBB3 10381 broad.mit.edu 37 16 89999011 89999011 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:89999011C>T uc002fph.1 + 2 155 c.90C>T c.(88-90)ATC>ATT p.I30I TUBB3_uc002fpf.2_Silent_p.I377I|TUBB3_uc010ciz.1_5'UTR|TUBB3_uc010cja.1_RNA|TUBB3_uc002fpg.1_5'UTR|TUBB3_uc002fpi.1_5'UTR|TUBB3_uc002fpj.1_5'UTR|TUBB3_uc010cjb.1_5'UTR|TUBB3_uc002fpk.1_5'Flank NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 30 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) AGCATGGCATCGACCCCAGCG 0.622 TUBB3 10381 broad.mit.edu 37 16 90001305 90001305 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:90001305C>T uc002fph.1 + 4 511 c.446C>T c.(445-447)ACG>ATG p.T149M TUBB3_uc002fpf.2_Missense_Mutation_p.T496M|TUBB3_uc010ciz.1_Missense_Mutation_p.T77M|TUBB3_uc002fpg.1_Missense_Mutation_p.T3M|TUBB3_uc002fpi.1_Missense_Mutation_p.T77M|TUBB3_uc002fpj.1_Missense_Mutation_p.T77M|TUBB3_uc010cjb.1_Missense_Mutation_p.T3M|TUBB3_uc002fpk.1_Missense_Mutation_p.T3M NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 149 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GGCATGGGCACGTTGCTCATC 0.637 GLOD4 51031 broad.mit.edu 37 17 685454 685454 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:685454T>C uc002frv.2 - 1 118 c.42A>G c.(40-42)GGA>GGG p.G14G GLOD4_uc002fru.2_Silent_p.G14G|GLOD4_uc010vqc.1_5'UTR|RNMTL1_uc002frw.2_5'Flank NM_016080 NP_057164 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 14 mitochondrion 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GGAAGCGGTTTCCCACTTTGA 0.677 NXN 64359 broad.mit.edu 37 17 729260 729260 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:729260G>A uc002fsa.2 - 2 511 c.419C>T c.(418-420)GCC>GTC p.A140V NXN_uc002fsb.1_Missense_Mutation_p.A27V|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.A32V NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN nucleoredoxin 140 cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity ovary(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) CCCAGTGGTGGCGTCGAGGAA 0.468 SGSM2 9905 broad.mit.edu 37 17 2282378 2282378 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:2282378C>T uc002fun.3 + 22 2988 c.2813C>T c.(2812-2814)GCC>GTC p.A938V SGSM2_uc002fum.3_Missense_Mutation_p.A983V|SGSM2_uc010vqw.1_Missense_Mutation_p.A938V|SGSM2_uc002fup.1_Missense_Mutation_p.A116V|SGSM2_uc002fuq.2_Missense_Mutation_p.A100V NM_001098509 NP_001091979 O43147 SGSM2_HUMAN RUN and TBC1 domain containing 1 isoform 2 938 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) ATCTGGGCAGCCAGGCACATC 0.547 METT10D 79066 broad.mit.edu 37 17 2323528 2323528 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:2323528C>A uc002fut.2 - 10 1573 c.1425G>T c.(1423-1425)GAG>GAT p.E475D METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Missense_Mutation_p.E257D NM_024086 NP_076991 Q86W50 MET16_HUMAN methyltransferase 10 domain containing 475 methyltransferase activity 0 TTTCCAAAACCTCCACCCCTC 0.612 TRPV3 162514 broad.mit.edu 37 17 3417934 3417934 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:3417934G>A uc002fvt.1 - 17 2553 c.2231C>T c.(2230-2232)ACG>ATG p.T744M SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.T728M|TRPV3_uc010vri.1_Missense_Mutation_p.T699M|TRPV3_uc010vrj.1_Missense_Mutation_p.T728M|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.T728M|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.T744M|TRPV3_uc002fvu.2_Missense_Mutation_p.T744M NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 744 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) GGAGACGTGCGTCTTCCATTC 0.473 CTNS 1497 broad.mit.edu 37 17 3560021 3560021 + Missense_Mutation SNP G G A rs113994208 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:3560021G>A uc002fwb.2 + 9 1206 c.613G>A c.(613-615)GAC>AAC p.D205N CTNS_uc002fwa.2_Missense_Mutation_p.D205N|CTNS_uc010ckj.2_Missense_Mutation_p.D205N|CTNS_uc010vrv.1_Missense_Mutation_p.D58N|CTNS_uc010vrw.1_Missense_Mutation_p.D97N NM_004937 NP_004928 O60931 CTNS_HUMAN cystinosin isoform 2 205 Lumenal (Potential). Missing (in CTNS).|D -> N (in CTNS). ATP metabolic process|brain development|cognition|glutathione metabolic process integral to membrane|late endosome|lysosomal membrane L-cystine transmembrane transporter activity 0 COAD - Colon adenocarcinoma(5;0.0829) L-Cystine(DB00138) GAACAGCAACGACGTCTTCTT 0.617 CHRNE 1145 broad.mit.edu 37 17 4804184 4804184 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:4804184G>A uc002fzk.1 - 8 832 c.821C>T c.(820-822)ACG>ATG p.T274M C17orf107_uc002fzl.3_3'UTR NM_000080 NP_000071 Q04844 ACHE_HUMAN nicotinic acetylcholine receptor epsilon 274 Helical; (Potential). muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 GATGGAGACCGTGCATTTCTG 0.647 ZNF594 84622 broad.mit.edu 37 17 5086206 5086206 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:5086206C>T uc010cla.1 - 2 1502 c.1346G>A c.(1345-1347)AGA>AAA p.R449K NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 449 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 ACGATGGTGTCTAATAAGATC 0.423 NLRP1 22861 broad.mit.edu 37 17 5456824 5456824 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:5456824G>T uc002gci.2 - 5 2965 c.2410C>A c.(2410-2412)CTC>ATC p.L804I NLRP1_uc002gcg.1_Missense_Mutation_p.L804I|NLRP1_uc002gck.2_Missense_Mutation_p.L804I|NLRP1_uc002gcj.2_Missense_Mutation_p.L804I|NLRP1_uc002gcl.2_Missense_Mutation_p.L804I|NLRP1_uc002gch.3_Missense_Mutation_p.L804I|NLRP1_uc010clh.2_Missense_Mutation_p.L804I NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 804 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GTGACCTTGAGGACGGAGAAG 0.552 AIPL1 23746 broad.mit.edu 37 17 6337403 6337403 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:6337403G>A uc002gcp.2 - 2 207 c.112C>T c.(112-114)CGC>TGC p.R38C AIPL1_uc002gcq.2_Intron|AIPL1_uc002gcr.2_Missense_Mutation_p.R38C|AIPL1_uc010clk.2_Intron|AIPL1_uc010cll.2_Missense_Mutation_p.R38C|AIPL1_uc002gcs.2_Missense_Mutation_p.R38C NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 38 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) TTCATGGTGCGGAAATGAAAG 0.567 SLC16A11 162515 broad.mit.edu 37 17 6945418 6945418 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:6945418G>A uc002gei.1 - 3 1421 c.1083C>T c.(1081-1083)TTC>TTT p.F361F NM_153357 NP_699188 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 361 Extracellular (Potential). integral to membrane|plasma membrane symporter activity ovary(1) 1 GGAGTACACCGAAAACCAGCG 0.711 DNAH2 146754 broad.mit.edu 37 17 7681430 7681430 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:7681430G>A uc002giu.1 + 33 5297 c.5283G>A c.(5281-5283)ACG>ACA p.T1761T NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1761 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGACCAACACGCAATTTCAGT 0.532 DNAH2 146754 broad.mit.edu 37 17 7701025 7701025 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:7701025A>G uc002giu.1 + 52 8122 c.8108A>G c.(8107-8109)TAT>TGT p.Y2703C NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2703 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCCAAGGTGTATGAAGACCTC 0.542 PER1 5187 broad.mit.edu 37 17 8050660 8050660 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:8050660C>T uc002gkd.2 - 13 1775 c.1537G>A c.(1537-1539)GGC>AGC p.G513S PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.G497S NM_002616 NP_002607 O15534 PER1_HUMAN period 1 513 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 GTCACGGCGCCGACTCCACAG 0.662 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes MYH10 4628 broad.mit.edu 37 17 8390804 8390804 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:8390804C>T uc002gll.2 - 34 4996 c.4900G>A c.(4900-4902)GAG>AAG p.E1634K MYH10_uc002glm.2_Missense_Mutation_p.E1665K|MYH10_uc010cnx.2_Missense_Mutation_p.E1643K NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1634 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TTCGCAGCCTCGATTTGGGCT 0.552 MFSD6L 162387 broad.mit.edu 37 17 8700779 8700779 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:8700779A>G uc002glp.1 - 1 1808 c.1660T>C c.(1660-1662)TCG>CCG p.S554P NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 554 integral to membrane central_nervous_system(1) 1 AGCAGCTTCGAGTACTTGATT 0.587 WDR16 146845 broad.mit.edu 37 17 9515752 9515752 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:9515752A>G uc002gly.2 + 8 1050 c.981A>G c.(979-981)ATA>ATG p.I327M WDR16_uc002glz.2_Missense_Mutation_p.I259M|WDR16_uc010coc.2_Missense_Mutation_p.I337M NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 327 WD 4. cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 AGACGCTCATAGCGACTTGTC 0.418 USP43 124739 broad.mit.edu 37 17 9631968 9631968 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:9631968T>C uc010cod.2 + 15 3033 c.3033T>C c.(3031-3033)AAT>AAC p.N1011N USP43_uc002gma.3_Silent_p.N700N|USP43_uc010vva.1_Silent_p.N1006N|USP43_uc010coe.2_Silent_p.N808N|USP43_uc002gmc.3_Silent_p.N523N NM_153210 NP_694942 Q70EL4 UBP43_HUMAN ubiquitin specific protease 43 1011 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 ACAGGAGGAATGAGAGGGCAG 0.642 DHRS7C 201140 broad.mit.edu 37 17 9684848 9684848 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:9684848C>T uc010vvb.1 - 2 218 c.218G>A c.(217-219)AGG>AAG p.R73K DHRS7C_uc010cof.2_Missense_Mutation_p.R73K NM_001105571 NP_001099041 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 73 extracellular region binding|oxidoreductase activity 0 GTTCTCTAGCCTCTCCCAGTT 0.572 MYH3 4621 broad.mit.edu 37 17 10532979 10532979 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:10532979C>T uc002gmq.1 - 39 5808 c.5731G>A c.(5731-5733)GCG>ACG p.A1911T NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1911 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 GCGATATCCGCACGTTCCTCG 0.562 MYH3 4621 broad.mit.edu 37 17 10533718 10533718 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:10533718G>A uc002gmq.1 - 36 5421 c.5344C>T c.(5344-5346)CGG>TGG p.R1782W NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1782 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TTCTTCATCCGCTCAAGGTGG 0.577 MYH3 4621 broad.mit.edu 37 17 10535909 10535909 + Missense_Mutation SNP G G A rs141020227 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:10535909G>A uc002gmq.1 - 33 4917 c.4840C>T c.(4840-4842)CGG>TGG p.R1614W NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1614 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TTCTTGAGCCGGATGGCTTCA 0.582 MYH3 4621 broad.mit.edu 37 17 10542774 10542774 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:10542774C>A uc002gmq.1 - 23 3020 c.2943G>T c.(2941-2943)GAG>GAT p.E981D NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 981 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CAGAGAGTTCCTCAGTAAGGT 0.413 MYOCD 93649 broad.mit.edu 37 17 12655775 12655775 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:12655775G>A uc002gnn.2 + 10 1469 c.1170G>A c.(1168-1170)GTG>GTA p.V390V MYOCD_uc002gno.2_Silent_p.V390V|MYOCD_uc002gnp.1_Silent_p.V294V|MYOCD_uc002gnq.2_Silent_p.V109V NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 390 SAP. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCTTGCCTGTGTCAGGCACCA 0.468 RICH2 9912 broad.mit.edu 37 17 12888089 12888089 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:12888089G>A uc002gnr.3 + 20 2508 c.2181G>A c.(2179-2181)CGG>CGA p.R727R RICH2_uc010vvk.1_Silent_p.R727R|RICH2_uc010vvl.1_Silent_p.R721R|RICH2_uc002gns.3_Silent_p.R521R|RICH2_uc010vvm.1_Silent_p.R721R|RICH2_uc010vvn.1_RNA NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 727 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 GCAAATCGCGGCCCACTCCTA 0.627 ZNF624 57547 broad.mit.edu 37 17 16526349 16526349 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:16526349G>A uc010cpi.1 - 6 1934 c.1851C>T c.(1849-1851)TGC>TGT p.C617C NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 617 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ATGCCCTCTCGCAGTCAGTAC 0.383 RAI1 10743 broad.mit.edu 37 17 17701059 17701059 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:17701059G>A uc002grm.2 + 3 5266 c.4797G>A c.(4795-4797)GTG>GTA p.V1599V RAI1_uc002grn.1_Silent_p.V1599V NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1599 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CACCCTTCGTGCGGGTGGAGA 0.562 MYO15A 51168 broad.mit.edu 37 17 18053803 18053803 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:18053803G>T uc010vxh.1 + 35 7611 c.7273G>T c.(7273-7275)GGC>TGC p.G2425C NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 2425 Tail. 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) GCCCGGTGGAGGCAGCAGTAG 0.622 CCDC144NL 339184 broad.mit.edu 37 17 20799228 20799228 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:20799228A>G uc002gyf.2 - 1 226 c.106T>C c.(106-108)TGG>CGG p.W36R uc002gyg.1_Intron|uc002gyh.1_Intron NM_001004306 NP_001004306 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, 36 0 TCCAAGTACCACTGGTCCTCC 0.647 KSR1 8844 broad.mit.edu 37 17 25935009 25935009 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:25935009G>A uc010crg.2 + 16 2164 c.1719G>A c.(1717-1719)ACG>ACA p.T573T KSR1_uc002gzm.2_Silent_p.T352T|KSR1_uc002gzn.2_5'Flank NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 708 Protein kinase. Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(1) 4 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TCAACAAGACGAGGCAAATCG 0.612 KIAA0100 9703 broad.mit.edu 37 17 26961642 26961642 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:26961642A>G uc002hbu.2 - 16 3062 c.2963T>C c.(2962-2964)GTA>GCA p.V988A NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 988 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AACCTGTTCTACCACATGCTC 0.537 TLCD1 116238 broad.mit.edu 37 17 27051645 27051645 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:27051645A>G uc002hco.2 - 4 742 c.627T>C c.(625-627)GGT>GGC p.G209G TLCD1_uc010waw.1_Silent_p.G162G NM_138463 NP_612472 Q96CP7 TLCD1_HUMAN TLC domain containing 1 isoform 1 209 TLC.|Helical; (Potential). integral to membrane 0 Lung NSC(42;0.00431) TGAGCAGGATACCCAGCAGGA 0.537 SSH2 85464 broad.mit.edu 37 17 28030050 28030050 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:28030050A>G uc002heo.1 - 3 138 c.138T>C c.(136-138)GGT>GGC p.G46G SSH2_uc010wbh.1_Silent_p.G73G|SSH2_uc002hep.1_Silent_p.G46G|SSH2_uc002heq.2_Silent_p.G53G|SSH2_uc002her.2_Silent_p.G46G|SSH2_uc010csc.1_Silent_p.G46G NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 46 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 AAAGGGCAGCACCTTTGACAG 0.418 ATAD5 79915 broad.mit.edu 37 17 29161389 29161389 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:29161389A>G uc002hfs.1 + 2 636 c.290A>G c.(289-291)GAC>GGC p.D97G ATAD5_uc002hft.1_5'UTR NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 97 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGCAACAAAGACTGTACGACA 0.328 TMEM132E 124842 broad.mit.edu 37 17 32953298 32953298 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:32953298C>T uc002hif.2 + 2 548 c.220C>T c.(220-222)CAG>TAG p.Q74* NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 74 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CAGCTCTCTGCAGCGCTCCGA 0.701 LIG3 3980 broad.mit.edu 37 17 33319045 33319045 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:33319045C>T uc002hik.1 + 7 1385 c.1277C>T c.(1276-1278)GCA>GTA p.A426V LIG3_uc002hij.2_Missense_Mutation_p.A426V|LIG3_uc010cth.1_Missense_Mutation_p.A435V NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 426 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) AACTCAGGTGCAAAACATGTG 0.388 Other_BER_factors FNDC8 54752 broad.mit.edu 37 17 33454302 33454302 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:33454302A>G uc002hix.2 + 2 533 c.451A>G c.(451-453)AGG>GGG p.R151G NM_017559 NP_060029 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 151 ovary(2) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) GATGGCCACAAGGGGCCTGCT 0.577 SLFN11 91607 broad.mit.edu 37 17 33679860 33679860 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:33679860A>G uc010ctp.2 - 7 2663 c.2221T>C c.(2221-2223)TTA>CTA p.L741L SLFN11_uc010ctq.2_Silent_p.L741L|SLFN11_uc002hjh.3_Silent_p.L741L|SLFN11_uc002hjg.3_Silent_p.L741L|SLFN11_uc010ctr.2_Silent_p.L741L NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 741 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCTTTTTGTAAGTACTTGGCT 0.463 GGNBP2 79893 broad.mit.edu 37 17 34941792 34941792 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:34941792T>C uc002hnb.2 + 10 1527 c.1278T>C c.(1276-1278)ACT>ACC p.T426T GGNBP2_uc002hna.2_Silent_p.T426T|GGNBP2_uc002hnc.1_Silent_p.T255T NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 426 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) ATGGTAATACTTGTGTAGAAG 0.373 ACACA 31 broad.mit.edu 37 17 35518796 35518796 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:35518796G>A uc002hnm.2 - 42 5328 c.5137C>T c.(5137-5139)CGC>TGC p.R1713C ACACA_uc002hnk.2_Missense_Mutation_p.R1635C|ACACA_uc002hnl.2_Missense_Mutation_p.R1655C|ACACA_uc002hnn.2_Missense_Mutation_p.R1713C|ACACA_uc002hno.2_Missense_Mutation_p.R1750C|ACACA_uc010cuy.2_Missense_Mutation_p.R358C|ACACA_uc010wdc.1_Translation_Start_Site NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1713 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) ACATAGATGCGTGGAATACCT 0.463 CDK12 51755 broad.mit.edu 37 17 37627441 37627441 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:37627441A>G uc010cvv.2 + 2 1942 c.1356A>G c.(1354-1356)AAA>AAG p.K452K CDK12_uc010wef.1_Silent_p.K451K|CDK12_uc002hrw.3_Silent_p.K452K NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 452 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 GAAGTGTAAAATTGGAAAAAT 0.383 TCGA Ovarian(9;0.13) CDK12 51755 broad.mit.edu 37 17 37667883 37667883 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:37667883G>T uc010cvv.2 + 8 3354 c.2768G>T c.(2767-2769)GGA>GTA p.G923V CDK12_uc010wef.1_Missense_Mutation_p.G922V|CDK12_uc002hrw.3_Missense_Mutation_p.G923V NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 923 Protein kinase. 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 TGGAGCTGTGGGTAAGGTTCT 0.408 TCGA Ovarian(9;0.13) WIPF2 147179 broad.mit.edu 37 17 38421184 38421184 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:38421184T>G uc002hug.1 + 5 996 c.756T>G c.(754-756)CCT>CCG p.P252P WIPF2_uc002huh.1_Silent_p.P102P|WIPF2_uc010cww.1_Silent_p.P102P|WIPF2_uc002hui.1_Silent_p.P252P|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Silent_p.P252P NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN WIRE protein 252 Poly-Pro. cytoplasm|cytoskeleton actin binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 CTCCTCCTCCTCCGCCTTACC 0.592 HNSCC(43;0.11) SMARCE1 6605 broad.mit.edu 37 17 38788517 38788517 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:38788517A>T uc002hux.2 - 8 768 c.644T>A c.(643-645)GTT>GAT p.V215D SMARCE1_uc010wff.1_Missense_Mutation_p.V180D|SMARCE1_uc010wfg.1_Missense_Mutation_p.V145D|SMARCE1_uc002huy.2_Missense_Mutation_p.V180D|SMARCE1_uc010wfh.1_Missense_Mutation_p.V145D|SMARCE1_uc010wfi.1_Missense_Mutation_p.V197D NM_003079 NP_003070 Q969G3 SMCE1_HUMAN SWI/SNF-related matrix-associated 215 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity 0 Breast(137;0.000812) AACTGACCGAACGTCTGGCAC 0.453 KRT33A 3883 broad.mit.edu 37 17 39502761 39502761 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:39502761G>A uc002hwk.1 - 6 1073 c.1036C>T c.(1036-1038)CGG>TGG p.R346W NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 346 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) AGCCGCGCCCGCACGTCCAGC 0.602 STAT3 6774 broad.mit.edu 37 17 40467787 40467787 + Silent SNP C C T rs147202525 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:40467787C>T uc002hzl.1 - 24 2529 c.2289G>A c.(2287-2289)TCG>TCA p.S763S STAT3_uc002hzk.1_3'UTR|STAT3_uc002hzm.1_Silent_p.S762S|STAT3_uc010wgh.1_Silent_p.S665S|STAT3_uc002hzn.1_Silent_p.S763S|STAT3_uc010cyf.1_3'UTR NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 763 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TAGCGCACTCCGAGGTCAACT 0.582 Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome PTRF 284119 broad.mit.edu 37 17 40575031 40575031 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:40575031C>T uc002hzo.2 - 1 244 c.85G>A c.(85-87)GCT>ACT p.A29T PTRF_uc010wgi.1_Missense_Mutation_p.A29T NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 29 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) GCTGCCTGAGCCCCAGCGGAG 0.672 PLEKHH3 79990 broad.mit.edu 37 17 40822025 40822025 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:40822025G>A uc002iau.2 - 11 2391 c.1924C>T c.(1924-1926)CGA>TGA p.R642* PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Nonsense_Mutation_p.R3*|PLEKHH3_uc002iaw.2_Nonsense_Mutation_p.R639* NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 642 FERM. signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GCCTCAGCTCGGCCCATGCCC 0.692 WNK4 65266 broad.mit.edu 37 17 40940391 40940391 + Missense_Mutation SNP G G A rs146190504 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:40940391G>A uc002ibj.2 + 10 2027 c.2006G>A c.(2005-2007)CGG>CAG p.R669Q WNK4_uc010wgx.1_Missense_Mutation_p.R333Q|WNK4_uc002ibk.1_Missense_Mutation_p.R441Q|WNK4_uc010wgy.1_Missense_Mutation_p.R13Q NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 669 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGGAATCTCCGGCGCAGACCC 0.572 BRCA1 672 broad.mit.edu 37 17 41234588 41234588 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:41234588C>A uc002icq.2 - 12 4422 c.4190G>T c.(4189-4191)AGG>ATG p.R1397M BRCA1_uc010whp.1_Missense_Mutation_p.R247M|BRCA1_uc010whl.1_Missense_Mutation_p.R294M|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R1326M|BRCA1_uc002icu.2_Missense_Mutation_p.R294M|BRCA1_uc010cyx.2_Missense_Mutation_p.R1350M|BRCA1_uc002ict.2_Missense_Mutation_p.R1397M|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.R126M|BRCA1_uc002idc.1_Missense_Mutation_p.R293M|BRCA1_uc010whr.1_Missense_Mutation_p.R247M NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 1397 Interaction with PALB2. androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CATGGTATCCCTCTGCTTCAA 0.383 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) BRCA1 672 broad.mit.edu 37 17 41244577 41244577 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:41244577T>G uc002icq.2 - 10 3203 c.2971A>C c.(2971-2973)AAA>CAA p.K991Q BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.K920Q|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.K944Q|BRCA1_uc002ict.2_Missense_Mutation_p.K991Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.K991Q|BRCA1_uc002ide.1_Missense_Mutation_p.K822Q|BRCA1_uc010cyy.1_Missense_Mutation_p.K991Q|BRCA1_uc010whs.1_Missense_Mutation_p.K991Q|BRCA1_uc010cyz.2_Missense_Mutation_p.K944Q|BRCA1_uc010cza.2_Missense_Mutation_p.K965Q|BRCA1_uc010wht.1_Missense_Mutation_p.K695Q NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 991 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CATTTAGTTTTAACAAATGAC 0.363 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) C17orf46 124783 broad.mit.edu 37 17 43334552 43334552 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:43334552G>A uc002iis.1 - 2 132 c.36C>T c.(34-36)TGC>TGT p.C12C LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_5'UTR NM_152343 NP_689556 Q96LK8 CQ046_HUMAN hypothetical protein LOC124783 12 large_intestine(1)|ovary(1) 2 ACCCTTTGCCGCAGCATGGAA 0.632 PLEKHM1 9842 broad.mit.edu 37 17 43545824 43545824 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:43545824C>A uc002ija.2 - 5 1229 c.1059G>T c.(1057-1059)GAG>GAT p.E353D PLEKHM1_uc010wjm.1_Missense_Mutation_p.E325D|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E302D NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 353 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) CTGCAGGTGCCTCACAGTGCA 0.632 WNT9B 7484 broad.mit.edu 37 17 44952494 44952494 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:44952494C>T uc002ikw.1 + 3 399 c.362C>T c.(361-363)GCG>GTG p.A121V WNT9B_uc002ikx.1_Missense_Mutation_p.A121V NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 121 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) TTCCTGTACGCGGTGTCCTCT 0.542 WNT9B 7484 broad.mit.edu 37 17 44952641 44952641 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:44952641C>T uc002ikw.1 + 3 546 c.509C>T c.(508-510)ACC>ATC p.T170I WNT9B_uc002ikx.1_Missense_Mutation_p.T170I NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 170 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) AAGTACAGCACCAAGTTTCTG 0.627 SP6 80320 broad.mit.edu 37 17 45924731 45924731 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:45924731G>A uc002img.1 - 2 1397 c.1065C>T c.(1063-1065)GGC>GGT p.G355G SP6_uc002imh.1_Silent_p.G355G NM_199262 NP_954871 Q3SY56 SP6_HUMAN Sp6 transcription factor 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GCTCCACTGCGCCGCCGGCCT 0.711 ITGA3 3675 broad.mit.edu 37 17 48148781 48148781 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:48148781G>T uc010dbl.2 + 6 1322 c.858G>T c.(856-858)CAG>CAT p.Q286H ITGA3_uc010dbm.2_Missense_Mutation_p.Q286H NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 286 FG-GAP 4.|Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 TGCTGAGCCAGGAGGCAGGCG 0.617 BZRAP1 9256 broad.mit.edu 37 17 56382987 56382987 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:56382987G>A uc002ivx.3 - 28 6146 c.5275C>T c.(5275-5277)CCC>TCC p.P1759S BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_5'UTR|BZRAP1_uc010dcs.2_Missense_Mutation_p.P1699S|BZRAP1_uc010wnt.1_Missense_Mutation_p.P1750S NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 1759 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCAGCAGAGGGGACCAGCTTA 0.612 CLTC 1213 broad.mit.edu 37 17 57752157 57752157 + Silent SNP T T C rs139004755 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:57752157T>C uc002ixq.1 + 16 2957 c.2514T>C c.(2512-2514)GGT>GGC p.G838G CLTC_uc002ixp.2_Silent_p.G838G|CLTC_uc002ixr.1_Silent_p.G842G NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 838 Heavy chain arm.|Proximal 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) TTGTAAGAGGTCAATTCTCTA 0.368 T ALK|TFE3 ALCL|renal CACNG5 27091 broad.mit.edu 37 17 64881122 64881122 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:64881122A>G uc010wqi.1 + 6 830 c.593A>G c.(592-594)TAC>TGC p.Y198C CACNG5_uc010wqj.1_Missense_Mutation_p.Y198C NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 198 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). 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|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) ATGTCTGTGTACCTGTTTATG 0.612 HELZ 9931 broad.mit.edu 37 17 65103454 65103454 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:65103454T>C uc010wqk.1 - 31 5262 c.5075A>G c.(5074-5076)AAT>AGT p.N1692S HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.N1691S NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CATTAGGTGATTCTGTTGCAA 0.483 BPTF 2186 broad.mit.edu 37 17 65905705 65905705 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:65905705T>C uc002jgf.2 + 10 2881 c.2820T>C c.(2818-2820)AAT>AAC p.N940N BPTF_uc002jge.2_Silent_p.N1066N NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1066 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TAGCCAAAAATAATATGGATG 0.279 ABCA8 10351 broad.mit.edu 37 17 66898920 66898920 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:66898920A>G uc002jhp.2 - 19 2757 c.2578T>C c.(2578-2580)TAT>CAT p.Y860H ABCA8_uc002jhq.2_Missense_Mutation_p.Y900H|ABCA8_uc010wqq.1_Missense_Mutation_p.Y900H|ABCA8_uc010wqr.1_Missense_Mutation_p.Y839H|ABCA8_uc002jhr.2_Missense_Mutation_p.Y900H NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 860 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GCAAGGAAATACAAATGAGGA 0.378 ABCA10 10349 broad.mit.edu 37 17 67186554 67186554 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:67186554T>C uc010dfa.1 - 19 2955 c.2076A>G c.(2074-2076)ACA>ACG p.T692T ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Silent_p.T293T NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 692 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CATTCAGAGATGTCACTGAAA 0.333 COG1 9382 broad.mit.edu 37 17 71197647 71197647 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:71197647G>A uc002jjg.2 + 7 1717 c.1681G>A c.(1681-1683)GCA>ACA p.A561T COG1_uc002jjh.2_Missense_Mutation_p.A561T|COG1_uc002jjf.1_Missense_Mutation_p.A561T NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 561 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) TGACAGATACGCAGATGCGGG 0.552 SDK2 54549 broad.mit.edu 37 17 71389790 71389790 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:71389790G>A uc010dfm.2 - 27 3807 c.3807C>T c.(3805-3807)TAC>TAT p.Y1269Y SDK2_uc002jjt.3_Silent_p.Y428Y|SDK2_uc010dfn.2_Silent_p.Y948Y NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1269 Fibronectin type-III 7.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CATAGAGCACGTATTTGCCCA 0.617 TMEM104 54868 broad.mit.edu 37 17 72832458 72832458 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:72832458A>G uc002jls.3 + 10 1285 c.1123A>G c.(1123-1125)ACC>GCC p.T375A TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.T375A NM_017728 NP_060198 Q8NE00 TM104_HUMAN transmembrane protein 104 375 Helical; (Potential). integral to membrane 0 all_lung(278;0.23) CATTGCCGTGACCCTGCGCAA 0.647 GALR2 8811 broad.mit.edu 37 17 74072970 74072970 + Missense_Mutation SNP G G A rs142971884 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:74072970G>A uc002jqm.1 + 2 703 c.622G>A c.(622-624)GCG>ACG p.A208T ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank NM_003857 NP_003848 O43603 GALR2_HUMAN galanin receptor 2 208 Helical; Name=5; (Potential). digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity 0 CCTGACCTACGCGCGCACCTT 0.697 SEC14L1 6397 broad.mit.edu 37 17 75196727 75196727 + Silent SNP C C T rs143920033 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:75196727C>T uc002jto.2 + 9 1248 c.981C>T c.(979-981)TAC>TAT p.Y327Y SEC14L1_uc010dhc.2_Silent_p.Y327Y|SEC14L1_uc010wth.1_Silent_p.Y327Y|SEC14L1_uc002jtm.2_Silent_p.Y327Y|SEC14L1_uc010wti.1_Silent_p.Y293Y NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 327 CRAL-TRIO. transport Golgi apparatus|integral to membrane binding ovary(2) 2 AGGATTACTACGCGGGAGGCT 0.493 TNRC6C 57690 broad.mit.edu 37 17 76073380 76073380 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:76073380G>A uc002jud.2 + 10 3775 c.3175G>A c.(3175-3177)GGG>AGG p.G1059R TNRC6C_uc002juf.2_Missense_Mutation_p.G1056R|TNRC6C_uc002jue.2_Missense_Mutation_p.G1056R NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 1059 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GATTGCCTCCGGGCTGGGCAT 0.527 RNF213 57674 broad.mit.edu 37 17 78341838 78341838 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:78341838G>A uc002jyh.1 + 19 6492 c.6269G>A c.(6268-6270)TGC>TAC p.C2090Y uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.C472Y NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CACGTGCACTGCCTGCGCTGC 0.567 AZI1 22994 broad.mit.edu 37 17 79171622 79171622 + Missense_Mutation SNP C C T rs144147050 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:79171622C>T uc002jzp.1 - 13 1746 c.1546G>A c.(1546-1548)GAA>AAA p.E516K AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.E513K|AZI1_uc002jzo.1_Missense_Mutation_p.E513K|AZI1_uc010wum.1_Missense_Mutation_p.E516K NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 516 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TCAGGAGGTTCGGGGAACGCA 0.567 RAB40B 10966 broad.mit.edu 37 17 80617530 80617530 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:80617530C>T uc002kft.2 - 4 394 c.268G>A c.(268-270)GTG>ATG p.V90M RAB40B_uc002kfs.2_RNA NM_006822 NP_006813 Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 90 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1) 1 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) ACCAGGATCACACCCTGGGGG 0.502 FN3KRP 79672 broad.mit.edu 37 17 80684826 80684826 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:80684826T>C uc002kfu.2 + 6 759 c.709T>C c.(709-711)TCT>CCT p.S237P FN3KRP_uc010wvr.1_Missense_Mutation_p.S187P NM_024619 NP_078895 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 237 kinase activity 0 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TGACCCAGCTTCTTTCTACGG 0.557 TBCD 6904 broad.mit.edu 37 17 80861316 80861316 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:80861316A>G uc002kfz.2 + 19 1896 c.1766A>G c.(1765-1767)AAC>AGC p.N589S TBCD_uc002kfx.1_Missense_Mutation_p.N572S|TBCD_uc002kfy.1_Missense_Mutation_p.N589S|TBCD_uc002kgb.1_5'UTR NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 589 HEAT 2. 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GCGCTGCACAACCTGGCCCAG 0.572 KIAA0802 23255 broad.mit.edu 37 18 8824732 8824732 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:8824732G>A uc002knr.2 + 15 3366 c.3224G>A c.(3223-3225)CGT>CAT p.R1075H KIAA0802_uc002knq.2_Missense_Mutation_p.R1034H|KIAA0802_uc002kns.2_Missense_Mutation_p.R415H NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1385 0 GAGTTCCAGCGTCTAATGGAC 0.592 PPP4R1 9989 broad.mit.edu 37 18 9559564 9559564 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:9559564A>G uc002koe.1 - 14 1999 c.1881T>C c.(1879-1881)TCT>TCC p.S627S PPP4R1_uc002kof.2_Silent_p.S44S|PPP4R1_uc010wzo.1_Silent_p.S473S|PPP4R1_uc002kod.1_Silent_p.S610S|PPP4R1_uc010wzp.1_RNA NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 627 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 GGTCAGTCATAGATAAATACT 0.458 ROCK1 6093 broad.mit.edu 37 18 18624112 18624112 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:18624112G>T uc002kte.2 - 6 1567 c.626C>A c.(625-627)TCT>TAT p.S209Y NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 209 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) CAAATGTCCAGATTTATCCAG 0.313 OSBPL1A 114876 broad.mit.edu 37 18 21912999 21912999 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:21912999T>C uc002kve.2 - 7 706 c.532A>G c.(532-534)ACA>GCA p.T178A NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 178 ANK 3. cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TGCAAGGGTGTATTTCCTAAC 0.393 ZNF521 25925 broad.mit.edu 37 18 22806757 22806757 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:22806757C>T uc002kvk.2 - 4 1372 c.1125G>A c.(1123-1125)CCG>CCA p.P375P ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.P375P|ZNF521_uc002kvl.2_Silent_p.P155P NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 375 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGGGATTGGCGGGGCAGCTT 0.547 T PAX5 ALL PSMA8 143471 broad.mit.edu 37 18 23758861 23758861 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:23758861C>T uc002kvq.2 + 5 677 c.563C>T c.(562-564)GCC>GTC p.A188V PSMA8_uc002kvo.2_Missense_Mutation_p.A144V|PSMA8_uc002kvp.2_Missense_Mutation_p.A182V|PSMA8_uc002kvr.2_Missense_Mutation_p.A156V NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN proteasome alpha 8 subunit isoform 1 188 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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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 cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity skin(1) 1 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) ACAGAAGATGCCATAGCAAGT 0.308 TTR 7276 broad.mit.edu 37 18 29171922 29171922 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:29171922G>T uc002kwx.3 + 1 193 c.57G>T c.(55-57)GAG>GAT p.E19D NM_000371 NP_000362 P02766 TTHY_HUMAN transthyretin precursor 19 transport cytoplasm hormone activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.00523) Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279) TTGTGTCTGAGGCTGGCCCTA 0.507 B4GALT6 9331 broad.mit.edu 37 18 29264301 29264301 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:29264301T>C uc002kwz.3 - 1 386 c.89A>G c.(88-90)TAC>TGC p.Y30C B4GALT6_uc010dma.2_Missense_Mutation_p.Y30C|B4GALT6_uc010dmb.2_Missense_Mutation_p.Y30C NM_004775 NP_004766 Q9UBX8 B4GT6_HUMAN beta-1,4-galactosyltransferase 6 30 Helical; Signal-anchor for type II membrane protein; (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(10;0.00791) ATAGATGAAGTACAGACAGGA 0.557 KLHL14 57565 broad.mit.edu 37 18 30350456 30350456 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:30350456G>A uc002kxm.1 - 2 487 c.99C>T c.(97-99)TGC>TGT p.C33C NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 33 BTB. cytosol|endoplasmic reticulum membrane ovary(1) 1 GGGTCACGTCGCAAAACAGCT 0.642 MOCOS 55034 broad.mit.edu 37 18 33795823 33795823 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:33795823C>T uc002kzq.3 + 8 1703 c.1680C>T c.(1678-1680)GTC>GTT p.V560V NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 560 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) TGTGTGATGTCGCCAGAACCC 0.552 MOCOS 55034 broad.mit.edu 37 18 33831236 33831236 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:33831236A>G uc002kzq.3 + 11 2177 c.2154A>G c.(2152-2154)AAA>AAG p.K718K NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 718 MOSC. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) CAAAGAAGAAACATGGAAAAG 0.398 CELF4 56853 broad.mit.edu 37 18 34853109 34853109 + Silent SNP C C T rs145932686 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:34853109C>T uc002lae.2 - 7 1215 c.819G>A c.(817-819)GCG>GCA p.A273A CELF4_uc010dnd.1_Silent_p.A271A|CELF4_uc002lag.2_Silent_p.A263A|CELF4_uc002laf.2_Silent_p.A268A|CELF4_uc002lai.2_Silent_p.A258A|CELF4_uc002lah.1_5'UTR|CELF4_uc002laj.1_Missense_Mutation_p.G109S NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 273 Sufficient for RNA-binding and MSE- dependent splicing activity.|Ala-rich. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CCATCAGGGCCGCTTGCTGCT 0.637 CELF4 56853 broad.mit.edu 37 18 35145576 35145576 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:35145576T>C uc002lae.2 - 1 425 c.29A>G c.(28-30)AAC>AGC p.N10S CELF4_uc010dnd.1_Missense_Mutation_p.N10S|CELF4_uc002lag.2_Missense_Mutation_p.N10S|CELF4_uc002laf.2_Missense_Mutation_p.N6S|CELF4_uc002lai.2_Missense_Mutation_p.N6S NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 10 Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 AGCCTGTCCGTTTGCTAACGT 0.557 TCEB3B 51224 broad.mit.edu 37 18 44560392 44560392 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:44560392T>C uc002lcr.1 - 1 1597 c.1244A>G c.(1243-1245)AAC>AGC p.N415S KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 415 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 CTTGGATTCGTTTGCTTTCCT 0.502 KIAA0427 9811 broad.mit.edu 37 18 46385824 46385824 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:46385824G>A uc002ldc.2 + 12 1976 c.1691G>A c.(1690-1692)CGG>CAG p.R564Q KIAA0427_uc002ldd.2_Missense_Mutation_p.R566Q|KIAA0427_uc002lde.3_Missense_Mutation_p.R193Q NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 564 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding p.R564Q(1) 0 ATGCTGACCCGGTCGCTGCTC 0.602 LIPG 9388 broad.mit.edu 37 18 47110076 47110076 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:47110076A>G uc002ldv.2 + 8 1560 c.1308A>G c.(1306-1308)CAA>CAG p.Q436Q LIPG_uc010xdh.1_Silent_p.Q362Q NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 436 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 ACCTGTCTCAACCCCGCAACC 0.587 MBD1 4152 broad.mit.edu 37 18 47803030 47803030 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:47803030A>G uc010dow.1 - 5 912 c.475_splice c.e5+1 p.A159_splice MBD1_uc002lef.2_Splice_Site|MBD1_uc002leg.2_Splice_Site_p.A159_splice|MBD1_uc010xdi.1_Splice_Site_p.A185_splice|MBD1_uc002leh.3_Splice_Site_p.A159_splice|MBD1_uc002len.2_Splice_Site_p.A159_splice|MBD1_uc002lei.3_Splice_Site_p.A159_splice|MBD1_uc002lej.3_Splice_Site_p.A159_splice|MBD1_uc002lek.3_Splice_Site_p.A159_splice|MBD1_uc002lel.3_Splice_Site_p.A159_splice|MBD1_uc002lem.3_Splice_Site_p.A159_splice|MBD1_uc010xdj.1_Splice_Site_p.A159_splice|MBD1_uc010xdk.1_Splice_Site_p.A159_splice|MBD1_uc010dox.1_Splice_Site_p.A159_splice|MBD1_uc002leo.2_Splice_Site_p.A159_splice NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GAGGCCACTCACCTCGACAGT 0.567 LMAN1 3998 broad.mit.edu 37 18 57020469 57020469 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:57020469G>A uc002lhz.2 - 5 636 c.604C>T c.(604-606)CGA>TGA p.R202* LMAN1_uc010xek.1_Nonsense_Mutation_p.R202* NM_005570 NP_005561 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 precursor 202 Lumenal (Potential).|L-type lectin-like. blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding skin(1) 1 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) ATCTTTGCTCGGACAGGATAG 0.408 TNFRSF11A 8792 broad.mit.edu 37 18 60035961 60035961 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:60035961A>G uc002lin.2 + 9 849 c.811A>G c.(811-813)ACA>GCA p.T271A TNFRSF11A_uc010dpv.2_Intron NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 271 Cytoplasmic (Potential). adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) TTGTGTCAGTACACACACGGC 0.453 Paget_Disease_of_Bone VPS4B 9525 broad.mit.edu 37 18 61067280 61067280 + Splice_Site SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:61067280C>T uc002lix.2 - 7 1050 c.790_splice c.e7+1 p.G264_splice VPS4B_uc010dpx.2_Splice_Site_p.G264_splice|VPS4B_uc010dpy.2_Splice_Site_p.G146_splice|VPS4B_uc010dpz.1_Splice_Site_p.G146_splice NM_004869 NP_004860 O75351 VPS4B_HUMAN vacuolar protein sorting factor 4B cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding ovary(1) 1 AGTAACACTACCTTGCATTTG 0.214 CDH7 1005 broad.mit.edu 37 18 63529940 63529940 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:63529940C>T uc002ljz.2 + 11 1976 c.1651C>T c.(1651-1653)CGG>TGG p.R551W CDH7_uc002lka.2_Missense_Mutation_p.R551W|CDH7_uc002lkb.2_Missense_Mutation_p.R551W NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 551 Extracellular (Potential).|Cadherin 5. 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) AAACGGCTTCCGGAGACAGGA 0.458 CCDC102B 79839 broad.mit.edu 37 18 66678242 66678242 + Silent SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:66678242T>A uc002lkk.2 + 9 1558 c.1335T>A c.(1333-1335)ACT>ACA p.T445T CCDC102B_uc002lki.2_Silent_p.T445T NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 445 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) CAGAACTGACTCATGCAAACA 0.353 RTTN 25914 broad.mit.edu 37 18 67755348 67755348 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:67755348C>T uc002lkp.2 - 31 4247 c.4179G>A c.(4177-4179)CTG>CTA p.L1393L RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L481L NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1393 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CAAGGGTGGTCAGTGCTGATC 0.438 CTDP1 9150 broad.mit.edu 37 18 77470424 77470424 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:77470424C>T uc002lnh.1 + 6 998 c.851C>T c.(850-852)ACG>ATG p.T284M CTDP1_uc002lni.1_Missense_Mutation_p.T284M|CTDP1_uc010drd.1_Missense_Mutation_p.T284M NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 284 FCP1 homology. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) TTTTCTAAAACGGGAAACCTT 0.398 C19orf21 126353 broad.mit.edu 37 19 757730 757730 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:757730C>T uc002lpo.2 + 2 867 c.784C>T c.(784-786)CGT>TGT p.R262C NM_173481 NP_775752 Q8IVT2 CS021_HUMAN hypothetical protein LOC126353 262 upper_aerodigestive_tract(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) 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) GAACAAGGTGCGTGCTGTGCC 0.657 ELANE 1991 broad.mit.edu 37 19 856072 856072 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:856072T>C uc002lqb.2 + 5 750 c.712T>C c.(712-714)TTT>CTT p.F238L NM_001972 NP_001963 P08246 ELNE_HUMAN neutrophil elastase preproprotein 238 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding pancreas(1) 1 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) GGTGGCACAGTTTGTAAACTG 0.642 Kostmann_syndrome MED16 10025 broad.mit.edu 37 19 889762 889762 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:889762C>T uc002lqd.1 - 4 474 c.323G>A c.(322-324)TGG>TAG p.W108* MED16_uc002lqe.2_Nonsense_Mutation_p.W97*|MED16_uc002lqf.2_Nonsense_Mutation_p.W97*|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Nonsense_Mutation_p.W97*|MED16_uc010xfx.1_Nonsense_Mutation_p.W97*|MED16_uc010xfy.1_Nonsense_Mutation_p.W97* NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 108 WD 1. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 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;9.42e-05)|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) CGCCATGCTCCAGCACTTGAT 0.622 REXO1 57455 broad.mit.edu 37 19 1828587 1828587 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:1828587G>A uc002lua.3 - 2 296 c.201C>T c.(199-201)CCC>CCT p.P67P REXO1_uc010dsr.1_Silent_p.P21P NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 67 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTCTGCGCGGGGGGCTTGG 0.677 KLF16 83855 broad.mit.edu 37 19 1854753 1854753 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:1854753C>T uc002luc.2 - 2 532 c.464G>A c.(463-465)CGC>CAC p.R155H KLF16_uc010xgt.1_RNA NM_031918 NP_114124 Q9BXK1 KLF16_HUMAN BTE-binding protein 4 155 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) AGCAAAAGGGCGTTCCCCTGG 0.657 DOT1L 84444 broad.mit.edu 37 19 2210737 2210737 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:2210737G>A uc002lvb.3 + 14 1270 c.1234G>A c.(1234-1236)GGG>AGG p.G412R DOT1L_uc002lvc.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 412 Required for interaction with nucleosomes and DNA. 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) CCGCAAGCGCGGGCGCCCCAA 0.607 AMH 268 broad.mit.edu 37 19 2249524 2249524 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:2249524G>A uc002lvh.2 + 1 412 c.193G>A c.(193-195)GGC>AGC p.G65S hsa-mir-4321|MI0015852_5'Flank NM_000479 NP_000470 P03971 MIS_HUMAN anti-Mullerian hormone precursor 65 cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination extracellular space growth factor activity|hormone activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGACAGCAATGGCAGCAGCTC 0.692 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) TBXA2R 6915 broad.mit.edu 37 19 3600213 3600213 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:3600213G>A uc002lyg.1 - 2 634 c.420C>T c.(418-420)CGC>CGT p.R140R TBXA2R_uc002lye.1_Intron NM_001060 NP_001051 P21731 TA2R_HUMAN thromboxane A2 receptor isoform alpha 140 Cytoplasmic (Potential). platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CGACCGCCGGGCGCGAGAAGG 0.746 TBXA2R 6915 broad.mit.edu 37 19 3600354 3600354 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:3600354G>A uc002lyg.1 - 2 493 c.279C>T c.(277-279)TTC>TTT p.F93F TBXA2R_uc002lye.1_Silent_p.F93F NM_001060 NP_001051 P21731 TA2R_HUMAN thromboxane A2 receptor isoform alpha 93 Extracellular (Potential). platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CGTGCCACTCGAAGAGCGCGG 0.672 TBXA2R 6915 broad.mit.edu 37 19 3600562 3600562 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:3600562A>G uc002lyg.1 - 2 285 c.71T>C c.(70-72)CTG>CCG p.L24P TBXA2R_uc002lye.1_Missense_Mutation_p.L24P NM_001060 NP_001051 P21731 TA2R_HUMAN thromboxane A2 receptor isoform alpha 24 Extracellular (Potential). platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CGAGGCGATCAGCCGTCTCTC 0.692 PIP5K1C 23396 broad.mit.edu 37 19 3633494 3633494 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:3633494A>G uc002lyj.1 - 17 2002 c.1945T>C c.(1945-1947)TAC>CAC p.Y649H PIP5K1C_uc010xhq.1_Intron NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 649 Mediates interaction with TLN2. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) AGCGGGGAGTACACCCAGCTC 0.706 PIP5K1C 23396 broad.mit.edu 37 19 3638999 3638999 + Silent SNP C C T rs146725634 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:3638999C>T uc002lyj.1 - 16 1860 c.1803G>A c.(1801-1803)CCG>CCA p.P601P PIP5K1C_uc010xhq.1_Silent_p.P601P|PIP5K1C_uc010xhr.1_Silent_p.P601P NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 601 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) AGGCACCGGCCGGGGAAGCCT 0.697 EEF2 1938 broad.mit.edu 37 19 3977575 3977575 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:3977575G>A uc002lze.2 - 13 2184 c.2101C>T c.(2101-2103)CGC>TGC p.R701C NM_001961 NP_001952 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 701 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTCGAAGCGCACACCCCGC 0.682 FSD1 79187 broad.mit.edu 37 19 4318416 4318416 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:4318416C>T uc002lzy.2 + 9 1026 c.873C>T c.(871-873)GAC>GAT p.D291D FSD1_uc002lzz.2_Silent_p.D291D|FSD1_uc002maa.2_Silent_p.D104D NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 291 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGTGGGACGCTATGGGCG 0.572 SH3GL1 6455 broad.mit.edu 37 19 4366969 4366969 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:4366969C>A uc002maj.2 - 2 174 c.68G>T c.(67-69)GGG>GTG p.G23V SH3GL1_uc002mak.2_Missense_Mutation_p.G23V|SH3GL1_uc010xig.1_Missense_Mutation_p.G23V NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 23 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CCCCTCGGCCCCTCCGACCTT 0.597 T MLL AL PTPRS 5802 broad.mit.edu 37 19 5231328 5231328 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:5231328G>A uc002mbv.2 - 14 2382 c.2148C>T c.(2146-2148)GAC>GAT p.D716D PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Silent_p.D703D|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 716 Extracellular (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TACCATCCTCGTCGGTGCGGA 0.682 PTPRS 5802 broad.mit.edu 37 19 5258116 5258116 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:5258116A>G uc002mbv.2 - 8 852 c.618T>C c.(616-618)AGT>AGC p.S206S PTPRS_uc002mbu.1_Silent_p.S197S|PTPRS_uc010xin.1_Silent_p.S197S|PTPRS_uc002mbw.2_Silent_p.S197S|PTPRS_uc002mbx.2_Silent_p.S197S|PTPRS_uc002mby.2_Silent_p.S197S NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 206 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CGGTTTCCTCACTGCTTTCAA 0.592 DUS3L 56931 broad.mit.edu 37 19 5785423 5785423 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:5785423G>A uc002mdc.2 - 12 1948 c.1851C>T c.(1849-1851)AGC>AGT p.S617S PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Silent_p.S375S|DUS3L_uc010duk.2_Silent_p.S282S NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 617 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 CTGCCTTCTGGCTGGCCATCA 0.687 RANBP3 8498 broad.mit.edu 37 19 5918577 5918577 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:5918577G>A uc002mdw.2 - 15 1630 c.1403C>T c.(1402-1404)GCC>GTC p.A468V RANBP3_uc002mdv.2_Missense_Mutation_p.A187V|RANBP3_uc002mdx.2_Missense_Mutation_p.A463V|RANBP3_uc002mdy.2_Missense_Mutation_p.A400V|RANBP3_uc002mdz.2_Missense_Mutation_p.A395V|RANBP3_uc010duq.2_Missense_Mutation_p.A373V|RANBP3_uc002mea.2_Missense_Mutation_p.A335V|RANBP3_uc010xix.1_Missense_Mutation_p.A340V NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 isoform RANBP3-d 468 RanBD1. intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1) 1 CTTCTCGCTGGCCTTGTCGAT 0.612 RFX2 5990 broad.mit.edu 37 19 6002856 6002856 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:6002856T>C uc002meb.2 - 14 1795 c.1526A>G c.(1525-1527)CAG>CGG p.Q509R RFX2_uc002mec.2_Missense_Mutation_p.Q484R NM_000635 NP_000626 P48378 RFX2_HUMAN regulatory factor X2 isoform a 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|ovary(1)|skin(1) 6 CCGCAGCGTCTGGGCGAAGGC 0.667 VAV1 7409 broad.mit.edu 37 19 6833932 6833932 + Missense_Mutation SNP G G A rs140267055 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:6833932G>A uc002mfu.1 + 19 1842 c.1745G>A c.(1744-1746)CGC>CAC p.R582H VAV1_uc010xjh.1_Missense_Mutation_p.R550H|VAV1_uc010dva.1_Missense_Mutation_p.R582H|VAV1_uc002mfv.1_Missense_Mutation_p.R527H NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 582 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 AAACTACATCGCAGGGCTCAG 0.532 ARHGEF18 23370 broad.mit.edu 37 19 7518514 7518514 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:7518514C>T uc002mgi.2 + 7 1706 c.1453C>T c.(1453-1455)CTC>TTC p.L485F ARHGEF18_uc010xjm.1_Missense_Mutation_p.L327F|ARHGEF18_uc002mgh.2_Missense_Mutation_p.L327F|ARHGEF18_uc002mgj.1_Missense_Mutation_p.L128F NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 485 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) CAAGAACGGGCTCACCTTCCG 0.577 KIAA1543 57662 broad.mit.edu 37 19 7670306 7670306 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:7670306C>T uc002mgv.3 + 2 444 c.343C>T c.(343-345)CCT>TCT p.P115S KIAA1543_uc002mgu.3_Missense_Mutation_p.P115S NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 115 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 GGGCACAGTGCCTGCTTTGCC 0.677 KIAA1543 57662 broad.mit.edu 37 19 7675616 7675616 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:7675616T>C uc002mgv.3 + 7 1032 c.931T>C c.(931-933)TTC>CTC p.F311L KIAA1543_uc002mgu.3_Missense_Mutation_p.F338L NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 311 CH. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 GGCCGAGTTGTTCATGTGTTT 0.677 EVI5L 115704 broad.mit.edu 37 19 7913812 7913812 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:7913812G>A uc002min.2 + 4 487 c.333G>A c.(331-333)CTG>CTA p.L111L EVI5L_uc010xjz.1_Silent_p.L111L|EVI5L_uc002mio.1_5'Flank NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 111 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 GCCAGGAGCTGATCCGCAAGG 0.687 MAP2K7 5609 broad.mit.edu 37 19 7975205 7975205 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:7975205G>A uc002mit.2 + 4 459 c.394G>A c.(394-396)GGC>AGC p.G132S MAP2K7_uc002miv.2_Missense_Mutation_p.G132S|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.G132S|MAP2K7_uc010dvv.2_Missense_Mutation_p.G7S NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 132 Protein kinase.|ATP (By similarity). activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) CGGCACCTGCGGCCAGGTGTG 0.667 MAP2K7 5609 broad.mit.edu 37 19 7976447 7976447 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:7976447T>C uc002mit.2 + 9 1128 c.1063T>C c.(1063-1065)TCC>CCC p.S355P MAP2K7_uc002miv.2_Missense_Mutation_p.S362P|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.S362P|MAP2K7_uc010dvv.2_Missense_Mutation_p.S230P NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 355 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) GGACTTCCAGTCCTTCGTCAA 0.602 FBN3 84467 broad.mit.edu 37 19 8201281 8201281 + Missense_Mutation SNP C C T rs139750989 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:8201281C>T uc002mjf.2 - 10 1357 c.1336G>A c.(1336-1338)GAG>AAG p.E446K NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 446 EGF-like 3. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCAATGCACTCGCCGCGCACG 0.647 HNRNPM 4670 broad.mit.edu 37 19 8536286 8536286 + Silent SNP C C T rs17179758 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:8536286C>T uc010dwe.2 + 10 1052 c.972C>T c.(970-972)ATC>ATT p.I324I HNRNPM_uc010dwc.1_Silent_p.I324I|HNRNPM_uc010xke.1_Silent_p.I285I|HNRNPM_uc010dwd.2_Silent_p.I285I|HNRNPM_uc002mka.2_Silent_p.I204I NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 324 alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 ATAAAGGCATCGGAATGGGAA 0.468 MUC16 94025 broad.mit.edu 37 19 9066715 9066715 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:9066715T>C uc002mkp.2 - 3 20935 c.20731A>G c.(20731-20733)ACC>GCC p.T6911A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6913 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 GTGGCCTTGGTTTTTTCTGAG 0.473 MUC16 94025 broad.mit.edu 37 19 9077648 9077648 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:9077648G>T uc002mkp.2 - 3 10002 c.9798C>A c.(9796-9798)ACC>ACA p.T3266T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3267 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 TTGGTGATGTGGTTCCTGTGG 0.527 MUC16 94025 broad.mit.edu 37 19 9087145 9087145 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:9087145G>A uc002mkp.2 - 1 4874 c.4670C>T c.(4669-4671)ACC>ATC p.T1557I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1557 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 TGCAGAAAGGGTGTCCTGTGC 0.488 OR7G2 390882 broad.mit.edu 37 19 9213067 9213067 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:9213067C>T uc010xkk.1 - 1 916 c.916G>A c.(916-918)GTG>ATG p.V306M NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AAGGGGTTCACCATTTGAGGG 0.458 OR7G2 390882 broad.mit.edu 37 19 9213738 9213738 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:9213738A>G uc010xkk.1 - 1 245 c.245T>C c.(244-246)TTC>TCC p.F82S NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GGAGAGGAAGAAGTACATGGG 0.498 RDH8 50700 broad.mit.edu 37 19 10132068 10132068 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:10132068G>T uc002mmr.2 + 5 923 c.674G>T c.(673-675)AGG>ATG p.R225M NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 225 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) CCAGCCTCCAGGAAGCTGTTT 0.592 PDE4A 5141 broad.mit.edu 37 19 10568615 10568615 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:10568615C>T uc002moj.2 + 8 1046 c.938C>T c.(937-939)GCG>GTG p.A313V PDE4A_uc002mok.2_Missense_Mutation_p.A287V|PDE4A_uc002mol.2_Missense_Mutation_p.A252V|PDE4A_uc002mom.2_Missense_Mutation_p.A74V|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_5'Flank NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 313 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) AAACAGCAAGCGCCGCGACCA 0.532 SLC44A2 57153 broad.mit.edu 37 19 10746171 10746171 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:10746171G>A uc002mpf.2 + 14 1352 c.1213G>A c.(1213-1215)GCG>ACG p.A405T SLC44A2_uc002mpe.3_Missense_Mutation_p.A403T|SLC44A2_uc002mpg.1_Missense_Mutation_p.A125T|SLC44A2_uc002mph.2_5'Flank NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 405 Extracellular (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CCCATTTACTGCGAAAACCTG 0.557 TMED1 11018 broad.mit.edu 37 19 10943855 10943855 + Missense_Mutation SNP C C T rs151223408 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:10943855C>T uc002mpy.2 - 4 616 c.500G>A c.(499-501)CGC>CAC p.R167H DNM2_uc002mpx.1_3'UTR NM_006858 NP_006849 Q13445 TMED1_HUMAN interleukin 1 receptor-like 1 ligand precursor 167 Extracellular (Potential). cell-cell signaling|signal transduction|transport integral to membrane|plasma membrane receptor binding ovary(2)|breast(1)|central_nervous_system(1) 4 CTGGATGCTGCGCTCCAGCCG 0.617 C19orf52 90580 broad.mit.edu 37 19 11040108 11040108 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:11040108C>T uc002mqd.1 + 2 588 c.513C>T c.(511-513)CGC>CGT p.R171R YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank NM_138358 NP_612367 Q9BSF4 CS052_HUMAN hypothetical protein LOC90580 171 0 TCGTGGGTCGCTGGTGGGTGC 0.706 RAB3D 9545 broad.mit.edu 37 19 11446376 11446376 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:11446376G>A uc002mqy.2 - 3 550 c.312C>T c.(310-312)ATC>ATT p.I104I NM_004283 NP_004274 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 104 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(2) 2 CCTGATTGGCGATGTCATACA 0.607 CCDC151 115948 broad.mit.edu 37 19 11537809 11537809 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:11537809C>T uc002mrs.2 - 4 639 c.496G>A c.(496-498)GCC>ACC p.A166T CCDC151_uc002mrr.2_Missense_Mutation_p.A101T|CCDC151_uc010dxz.2_Missense_Mutation_p.A140T NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 166 Potential. ovary(1) 1 TGCCGCAGGGCGTTCTGCTGC 0.657 CNN1 1264 broad.mit.edu 37 19 11658614 11658614 + Silent SNP G G A rs3826802 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:11658614G>A uc002msc.1 + 5 557 c.393G>A c.(391-393)GCG>GCA p.A131A CNN1_uc010xmb.1_Silent_p.A81A|CNN1_uc010xmc.1_Silent_p.A81A NM_001299 NP_001290 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 131 CH. actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding 0 CCACCTAGGCGAAGACGAAAG 0.493 ZNF44 51710 broad.mit.edu 37 19 12383962 12383962 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:12383962A>G uc010xmj.1 - 5 1457 c.1252T>C c.(1252-1254)TGT>CGT p.C418R ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.C370R NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 418 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AATTTCCCACATTGCTTACAT 0.418 NACC1 112939 broad.mit.edu 37 19 13249039 13249039 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:13249039G>A uc002mwm.2 + 6 1571 c.1403G>A c.(1402-1404)CGC>CAC p.R468H NM_052876 NP_443108 Q96RE7 NACC1_HUMAN transcriptional repressor NAC1 468 BEN. negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body 0 ACCAACGCCCGCCGCGTCGTG 0.617 CACNA1A 773 broad.mit.edu 37 19 13346469 13346469 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:13346469T>C uc010dze.2 - 32 5265 c.5029A>G c.(5029-5031)ACC>GCC p.T1677A CACNA1A_uc010xnd.1_Missense_Mutation_p.T382A|CACNA1A_uc002mwx.3_Missense_Mutation_p.T382A|CACNA1A_uc010dzc.2_Missense_Mutation_p.T1202A|CACNA1A_uc002mwy.3_Missense_Mutation_p.T1676A|CACNA1A_uc002mwv.3_Missense_Mutation_p.T193A NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1677 IV.|Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) ATGCGGATGGTGTAACCCTGA 0.562 OREG0025293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CC2D1A 54862 broad.mit.edu 37 19 14029367 14029367 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:14029367C>A uc002mxo.2 + 8 1223 c.924C>A c.(922-924)CTC>CTA p.L308L CC2D1A_uc002mxn.2_Silent_p.L207L|CC2D1A_uc002mxp.2_Silent_p.L308L|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 308 Pro-rich. 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) CCGTGGACCTCTCCTGCCTGC 0.592 CC2D1A 54862 broad.mit.edu 37 19 14034390 14034390 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:14034390C>T uc002mxo.2 + 16 2093 c.1794C>T c.(1792-1794)ACC>ACT p.T598T CC2D1A_uc002mxp.2_Silent_p.T598T|CC2D1A_uc010dzh.2_Silent_p.T167T|CC2D1A_uc002mxq.1_Silent_p.T243T NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 598 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) ACCAATTCACCCAGCTGGGCA 0.592 PKN1 5585 broad.mit.edu 37 19 14582559 14582559 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:14582559C>T uc002myp.2 + 22 2960 c.2792C>T c.(2791-2793)GCC>GTC p.A931V PKN1_uc002myq.2_Missense_Mutation_p.A937V|PKN1_uc002myr.2_Missense_Mutation_p.A271V NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 931 AGC-kinase C-terminal. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 GAGCAGGCAGCCTTCCTGGAC 0.542 GIPC1 10755 broad.mit.edu 37 19 14593766 14593766 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:14593766C>T uc002myt.2 - 4 293 c.23G>A c.(22-24)CGG>CAG p.R8Q GIPC1_uc002myu.2_Missense_Mutation_p.R8Q|GIPC1_uc002myv.2_Intron|GIPC1_uc002myw.2_Intron|GIPC1_uc002myx.2_Missense_Mutation_p.R8Q|GIPC1_uc002myy.2_Intron NM_005716 NP_005707 O14908 GIPC1_HUMAN regulator of G-protein signalling 19 interacting 8 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding 0 CGCCTTTTTCCGCCGCCCCAG 0.687 EMR3 84658 broad.mit.edu 37 19 14772873 14772873 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:14772873T>C uc002mzi.3 - 4 405 c.257A>G c.(256-258)TAC>TGC p.Y86C EMR3_uc010dzp.2_Intron|EMR3_uc010xnv.1_Intron NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 86 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 TTCGACATTGTAACACACAGC 0.363 NOTCH3 4854 broad.mit.edu 37 19 15281319 15281319 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:15281319A>C uc002nan.2 - 27 5013 c.4937T>G c.(4936-4938)CTG>CGG p.L1646R NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1646 Helical; (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGCCACTAGCAGTGGCAGCAG 0.682 CYP4F22 126410 broad.mit.edu 37 19 15648443 15648443 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:15648443G>T uc002nbh.3 + 6 686 c.519G>T c.(517-519)AAG>AAT p.K173N NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 173 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 CTTACATGAAGATCTTCAACC 0.557 CYP4F2 8529 broad.mit.edu 37 19 16000362 16000362 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:16000362C>T uc002nbs.1 - 7 839 c.789G>A c.(787-789)GTG>GTA p.V263V CYP4F2_uc010xot.1_Silent_p.V114V|CYP4F2_uc010xou.1_Silent_p.V114V NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 263 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 TGAAGTCGTGCACCAGGCGGC 0.557 OR10H4 126541 broad.mit.edu 37 19 16060359 16060359 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:16060359A>G uc010xov.1 + 1 542 c.542A>G c.(541-543)CAT>CGT p.H181R NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TTTTTCTGTCATGTGCTTTCC 0.473 FAM129C 199786 broad.mit.edu 37 19 17648228 17648228 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:17648228T>C uc010xpr.1 + 6 702 c.564T>C c.(562-564)CCT>CCC p.P188P FAM129C_uc010xpq.1_Silent_p.P188P|FAM129C_uc010xps.1_Silent_p.P157P|FAM129C_uc010xpt.1_RNA|FAM129C_uc002ngy.3_5'Flank|FAM129C_uc010xpu.1_5'Flank|FAM129C_uc002ngz.3_5'Flank|FAM129C_uc010eaw.2_5'Flank|FAM129C_uc002nhb.2_5'Flank NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 188 0 TGGAAGTGCCTGTGAGCTTCC 0.557 TMEM161A 54929 broad.mit.edu 37 19 19232368 19232368 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:19232368C>T uc002nlg.2 - 8 796 c.766G>A c.(766-768)GCA>ACA p.A256T TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.A231T|TMEM161A_uc002nli.2_Missense_Mutation_p.A153T|TMEM161A_uc002nlj.2_Missense_Mutation_p.A131T NM_017814 NP_060284 Q9NX61 T161A_HUMAN transmembrane protein 161A precursor 256 Extracellular (Potential). cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2) 2 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) ATGGTCAGTGCGTCCCGGTGG 0.657 ZNF682 91120 broad.mit.edu 37 19 20133814 20133814 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:20133814T>C uc002noq.2 - 3 348 c.225A>G c.(223-225)CCA>CCG p.P75P ZNF682_uc002noo.2_Silent_p.P43P|ZNF682_uc002nop.2_Silent_p.P43P|ZNF682_uc010eck.2_Intron NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 CCAACCTACCTGGGGGTTTGG 0.473 ZNF430 80264 broad.mit.edu 37 19 21240210 21240210 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:21240210A>G uc002npj.2 + 5 1206 c.1096A>G c.(1096-1098)ATT>GTT p.I366V ZNF430_uc002npk.2_Missense_Mutation_p.I365V NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 366 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 ACATAAGATAATTCATGCTGG 0.348 UQCRFS1 7386 broad.mit.edu 37 19 29698962 29698962 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:29698962G>A uc002nsd.2 - 2 429 c.318C>T c.(316-318)AGC>AGT p.S106S NM_006003 NP_005994 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske 106 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity 0 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) TAGCCTCGCTGCTTTCTCTTG 0.473 ZNF536 9745 broad.mit.edu 37 19 30935815 30935815 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:30935815C>A uc002nsu.1 + 2 1484 c.1346C>A c.(1345-1347)CCC>CAC p.P449H ZNF536_uc010edd.1_Missense_Mutation_p.P449H NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CTGAGCGAGCCCAGCCAGCTC 0.657 ZNF536 9745 broad.mit.edu 37 19 31039827 31039827 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:31039827G>A uc002nsu.1 + 4 3439 c.3301G>A c.(3301-3303)GAC>AAC p.D1101N ZNF536_uc010edd.1_Missense_Mutation_p.D1101N NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CGGCCACGTGGACCCTGCATT 0.542 RGS9BP 388531 broad.mit.edu 37 19 33167385 33167385 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:33167385C>T uc002ntp.1 + 1 1073 c.216C>T c.(214-216)CGC>CGT p.R72R ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank NM_207391 NP_997274 Q6ZS82 R9BP_HUMAN RGS9 anchor protein 72 Cytoplasmic (Potential). negative regulation of signal transduction integral to membrane central_nervous_system(1) 1 Esophageal squamous(110;0.137) CCGACGAGCGCGCCGAGTTCG 0.731 WDR88 126248 broad.mit.edu 37 19 33638559 33638559 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:33638559C>T uc002nui.2 + 4 563 c.485C>T c.(484-486)GCC>GTC p.A162V NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 162 WD 2. ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) AGAGTCATTGCCGCATCCTAT 0.398 SCN1B 6324 broad.mit.edu 37 19 35523445 35523445 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:35523445C>T uc002nxp.2 + 2 245 c.54C>T c.(52-54)TGC>TGT p.C18C SCN1B_uc002nxo.1_Silent_p.C18C|SCN1B_uc010xsg.1_Silent_p.C18C NM_001037 NP_001028 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta 18 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) CCTCAGCCTGCGGGGGCTGCG 0.612 FAM187B 148109 broad.mit.edu 37 19 35719446 35719446 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:35719446G>T uc002nyk.1 - 1 183 c.138C>A c.(136-138)TCC>TCA p.S46S NM_152481 NP_689694 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 46 Extracellular (Potential). integral to membrane ovary(2) 2 GCGCCCCCGAGGAGTTGCAAT 0.532 GAPDHS 26330 broad.mit.edu 37 19 36034357 36034357 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:36034357C>T uc002oaf.1 + 8 973 c.857C>T c.(856-858)GCG>GTG p.A286V uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank NM_014364 NP_055179 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, 286 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) ACTGGGGCTGCGAAAGCTGTG 0.622 KIRREL2 84063 broad.mit.edu 37 19 36351855 36351855 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:36351855G>A uc002ocb.3 + 8 1185 c.973G>A c.(973-975)GTG>ATG p.V325M KIRREL2_uc002obz.3_Missense_Mutation_p.V325M|KIRREL2_uc002oca.3_Missense_Mutation_p.V275M|KIRREL2_uc002occ.3_Missense_Mutation_p.V272M|KIRREL2_uc002ocd.3_Missense_Mutation_p.V322M NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 325 Extracellular (Potential).|Ig-like C2-type 4. 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) GTCCGTGGACGTGGGGGAAGA 0.662 ZNF382 84911 broad.mit.edu 37 19 37117125 37117125 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:37117125T>G uc002oek.2 + 5 439 c.326T>G c.(325-327)CTA>CGA p.L109R ZNF382_uc010efa.2_Missense_Mutation_p.L60R|ZNF382_uc010efb.2_Missense_Mutation_p.L108R|ZNF382_uc002oel.2_Missense_Mutation_p.L108R NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 109 Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CACAAAAAACTAATTAAGGAG 0.323 ZNF585B 92285 broad.mit.edu 37 19 37697974 37697974 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:37697974G>T uc002ofq.2 - 2 294 c.40C>A c.(40-42)CTG>ATG p.L14M ZNF585B_uc002ofr.1_Translation_Start_Site NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTGGAGCCAGGGCTGAGGAT 0.522 SIPA1L3 23094 broad.mit.edu 37 19 38643562 38643562 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:38643562G>A uc002ohk.2 + 13 4125 c.3616G>A c.(3616-3618)GGC>AGC p.G1206S NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1206 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTCCTCTTCCGGCGGCCTGAC 0.667 RYR1 6261 broad.mit.edu 37 19 38990588 38990588 + Nonsense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:38990588G>T uc002oit.2 + 45 7385 c.7255G>T c.(7255-7257)GGA>TGA p.G2419* RYR1_uc002oiu.2_Nonsense_Mutation_p.G2419*|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2419 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGTGCACCTGGGACACGCCAT 0.637 CAPN12 147968 broad.mit.edu 37 19 39228150 39228150 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:39228150C>T uc002ojd.1 - 9 1403 c.1094G>A c.(1093-1095)CGT>CAT p.R365H CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank NM_144691 NP_653292 Q6ZSI9 CAN12_HUMAN calpain 12 365 Domain III. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GTTGAAGCCACGCACCCAGCG 0.706 IL28B 282617 broad.mit.edu 37 19 39734729 39734729 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:39734729A>G uc010xut.1 - 3 331 c.327T>C c.(325-327)GCT>GCC p.A109A IL28B_uc010xuu.1_Silent_p.A109A NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 109 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGTCAGTGTCAGCGGTGGCCT 0.572 FCGBP 8857 broad.mit.edu 37 19 40362848 40362848 + Silent SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:40362848G>C uc002omp.3 - 32 15230 c.15222C>G c.(15220-15222)CGC>CGG p.R5074R NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5074 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) ATACGCATTGGCGGAAGTACT 0.667 FCGBP 8857 broad.mit.edu 37 19 40424239 40424239 + Missense_Mutation SNP T T G rs144589100 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:40424239T>G uc002omp.3 - 4 1972 c.1964A>C c.(1963-1965)AAC>ACC p.N655T NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 655 VWFD 1. 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) GGGACAGTTGTTCTGGCAGCC 0.617 SPTBN4 57731 broad.mit.edu 37 19 41008168 41008168 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:41008168T>C uc002ony.2 + 9 1117 c.1031T>C c.(1030-1032)GTG>GCG p.V344A SPTBN4_uc002onx.2_Missense_Mutation_p.V344A|SPTBN4_uc002onz.2_Missense_Mutation_p.V344A NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 344 Spectrin 1. 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) TTAAGTGGGGTGCAGCAGCAA 0.607 HNRNPUL1 11100 broad.mit.edu 37 19 41807512 41807512 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:41807512A>G uc002oqb.3 + 11 1879 c.1590A>G c.(1588-1590)GTA>GTG p.V530V CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.V430V|HNRNPUL1_uc002oqa.3_Silent_p.V430V|HNRNPUL1_uc010ehm.2_Silent_p.V530V|HNRNPUL1_uc002oqc.3_Silent_p.V416V|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.V430V|HNRNPUL1_uc010ehn.2_Silent_p.V430V|HNRNPUL1_uc010eho.2_Silent_p.V430V|HNRNPUL1_uc010xvy.1_Silent_p.V430V|HNRNPUL1_uc010ehp.2_Silent_p.V386V|HNRNPUL1_uc002oqf.3_5'Flank NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 530 Necessary for interaction with TP53.|Necessary for interaction with BRD7 and transcriptional activation. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 AAGCTATTGTAATTTGTCCCA 0.453 HNRNPUL1 11100 broad.mit.edu 37 19 41807560 41807560 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:41807560C>T uc002oqb.3 + 11 1927 c.1638C>T c.(1636-1638)ACC>ACT p.T546T CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.T446T|HNRNPUL1_uc002oqa.3_Silent_p.T446T|HNRNPUL1_uc010ehm.2_Silent_p.T546T|HNRNPUL1_uc002oqc.3_Silent_p.T432T|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.T446T|HNRNPUL1_uc010ehn.2_Silent_p.T446T|HNRNPUL1_uc010eho.2_Silent_p.T446T|HNRNPUL1_uc010xvy.1_Silent_p.T446T|HNRNPUL1_uc010ehp.2_Silent_p.T402T|HNRNPUL1_uc002oqf.3_5'Flank NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 546 Necessary for interaction with TP53.|Necessary for interaction with BRD7 and transcriptional activation. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 TAAAGCGAACCGACGAGGAAG 0.483 HNRNPUL1 11100 broad.mit.edu 37 19 41810111 41810111 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:41810111C>A uc002oqb.3 + 13 2496 c.2207C>A c.(2206-2208)CCT>CAT p.P736H CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.P636H|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.P636H|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.P736H|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.P622H|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.P636H|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.P636H|HNRNPUL1_uc010eho.2_Missense_Mutation_p.P636H|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.P636H|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.P592H|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.P260H NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 736 Pro-rich.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 AGCAACATCCCTGGCTCAAGC 0.468 ZNF526 116115 broad.mit.edu 37 19 42730321 42730321 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:42730321G>A uc002osz.1 + 3 1922 c.1766G>A c.(1765-1767)CGA>CAA p.R589Q NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 589 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) GCGGGCTTGCGACTGCATCAG 0.642 LIPE 3991 broad.mit.edu 37 19 42910420 42910420 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:42910420T>C uc002otr.2 - 7 2535 c.2258A>G c.(2257-2259)TAC>TGC p.Y753C uc010eif.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 753 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) TGTGGCCGGGTAGGCTGCCAT 0.672 PSG11 5680 broad.mit.edu 37 19 43519329 43519329 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:43519329G>A uc002ovm.1 - 4 1010 c.903C>T c.(901-903)TGC>TGT p.C301C PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Silent_p.C307C|PSG11_uc002ovo.1_Silent_p.C179C|PSG11_uc002ovp.1_Silent_p.C179C NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 301 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) TACGAGCAGAGCAAGCATAGA 0.458 ZNF226 7769 broad.mit.edu 37 19 44681086 44681086 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:44681086A>G uc002oyp.2 + 6 1815 c.1671A>G c.(1669-1671)AAA>AAG p.K557K ZNF226_uc002oyq.2_Silent_p.K440K|ZNF226_uc002oyr.2_Silent_p.K440K|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.K557K|ZNF226_uc002oyt.2_Silent_p.K557K NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) GTATAGAGAAACCTTTTAAGT 0.448 CEACAM20 125931 broad.mit.edu 37 19 45017279 45017279 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:45017279G>A uc010ejn.1 - 7 1395 c.1379C>T c.(1378-1380)GCT>GTT p.A460V CEACAM20_uc010ejo.1_Missense_Mutation_p.A460V|CEACAM20_uc010ejp.1_Missense_Mutation_p.A367V|CEACAM20_uc010ejq.1_Missense_Mutation_p.A367V NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion 460 Helical; (Potential). integral to membrane large_intestine(2) 2 Prostate(69;0.0352) TGAGGCCACAGCAATGACAGC 0.582 OREG0025538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BCAM 4059 broad.mit.edu 37 19 45315630 45315630 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:45315630G>A uc002ozu.2 + 3 459 c.415G>A c.(415-417)GCG>ACG p.A139T BCAM_uc002ozt.1_Missense_Mutation_p.A139T NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 139 Extracellular (Potential).|Ig-like V-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TGAGGCCACTGCGCGGCTCAA 0.687 MARK4 57787 broad.mit.edu 37 19 45805630 45805630 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:45805630A>G uc002pbb.1 + 17 1928 c.1923_splice c.e17-2 p.S641_splice MARK4_uc002pba.1_Splice_Site_p.V668_splice Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) TTCTCGCCTCAGTTGCCATCT 0.562 PPP1R13L 10848 broad.mit.edu 37 19 45901297 45901297 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:45901297G>A uc002pbn.2 - 3 241 c.164C>T c.(163-165)GCG>GTG p.A55V PPP1R13L_uc002pbo.2_Missense_Mutation_p.A55V|PPP1R13L_uc002pbp.2_Missense_Mutation_p.A55V NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 55 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GCCAGGAGGCGCGGGAGAGTC 0.622 CD3EAP 10849 broad.mit.edu 37 19 45911523 45911523 + Silent SNP G G A rs140241488 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:45911523G>A uc002pbq.1 + 3 785 c.297G>A c.(295-297)ACG>ACA p.T99T PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Silent_p.T101T NM_012099 NP_036231 O15446 RPA34_HUMAN CD3E antigen, epsilon polypeptide associated 99 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity large_intestine(2)|ovary(2) 4 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) CCCCCTCAACGGAGGCAGGAG 0.647 NANOS2 339345 broad.mit.edu 37 19 46417728 46417728 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:46417728A>G uc002pdu.2 - 1 309 c.224T>C c.(223-225)GTC>GCC p.V75A NM_001029861 NP_001025032 P60321 NANO2_HUMAN nanos homolog 2 75 Nanos-type.|C2HC 1. germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding 0 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) TGAGGAGTAGACGTGGCGGGA 0.687 GRLF1 2909 broad.mit.edu 37 19 47422063 47422063 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:47422063G>A uc010ekv.2 + 1 131 c.131G>A c.(130-132)CGC>CAC p.R44H NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 44 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) CGCTTCGTGCGCCCGAGTGCT 0.527 DHX34 9704 broad.mit.edu 37 19 47884088 47884088 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:47884088C>T uc010xyn.1 + 15 3339 c.2998C>T c.(2998-3000)CGG>TGG p.R1000W DHX34_uc010xyo.1_Missense_Mutation_p.R129W NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 1000 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TTACAGCCTCCGGCGGCTCAC 0.353 FAM83E 54854 broad.mit.edu 37 19 49106851 49106851 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:49106851C>T uc002pjn.2 - 4 1141 c.1076G>A c.(1075-1077)CGC>CAC p.R359H NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN hypothetical protein LOC54854 359 ovary(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) ggtccgggcgcgcTGCACACT 0.567 FAM83E 54854 broad.mit.edu 37 19 49116511 49116511 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:49116511C>T uc002pjn.2 - 1 184 c.119G>A c.(118-120)AGC>AAC p.S40N NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN hypothetical protein LOC54854 40 ovary(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CGCGCCCTTGCTCAACAGAGC 0.682 NOSIP 51070 broad.mit.edu 37 19 50059938 50059938 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:50059938G>A uc002pok.2 - 8 745 c.593C>T c.(592-594)ACG>ATG p.T198M NOSIP_uc002pol.2_Missense_Mutation_p.T198M NM_015953 NP_057037 Q9Y314 NOSIP_HUMAN nitric oxide synthase interacting protein 198 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding skin(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) GTGCACGGGCGTCAGGTCCGA 0.692 CPT1C 126129 broad.mit.edu 37 19 50208489 50208489 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:50208489C>T uc002ppj.2 + 9 1103 c.898C>T c.(898-900)CGC>TGC p.R300C CPT1C_uc002ppl.3_Missense_Mutation_p.R266C|CPT1C_uc002ppi.2_Missense_Mutation_p.R217C|CPT1C_uc002ppk.2_Missense_Mutation_p.R289C|CPT1C_uc010eng.2_Missense_Mutation_p.R300C|CPT1C_uc010enh.2_Missense_Mutation_p.R300C|CPT1C_uc010ybc.1_Missense_Mutation_p.R171C|CPT1C_uc010eni.1_5'Flank NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 300 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GATGGGAATGCGCCCCTTATG 0.582 PTOV1 53635 broad.mit.edu 37 19 50360333 50360333 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:50360333C>T uc002pqf.1 + 6 830 c.660C>T c.(658-660)TAC>TAT p.Y220Y PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.Y188Y|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 220 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) TCATCCCCTACGACCAGAGCG 0.617 ZNF473 25888 broad.mit.edu 37 19 50549260 50549260 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:50549260C>T uc002prn.2 + 5 1797 c.1560C>T c.(1558-1560)TGC>TGT p.C520C ZNF473_uc002prm.2_Silent_p.C520C|ZNF473_uc010ybo.1_Silent_p.C508C NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 520 C2H2-type 10.|Interaction with SLBP/pre-mRNA complex. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GTCAGGAGTGCGGAGAACGCT 0.468 SHANK1 50944 broad.mit.edu 37 19 51220008 51220008 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:51220008G>T uc002psx.1 - 1 188 c.169C>A c.(169-171)CTC>ATC p.L57I NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 57 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CGGCCCTGGAGGCCTCTAACA 0.672 CD33 945 broad.mit.edu 37 19 51728620 51728620 + Missense_Mutation SNP C C T rs138300409 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:51728620C>T uc002pwa.2 + 2 224 c.184C>T c.(184-186)CGG>TGG p.R62W CD33_uc010eos.1_Missense_Mutation_p.R62W|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 62 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TTACTGGTTCCGGGAAGGAGC 0.537 ZNF836 162962 broad.mit.edu 37 19 52660326 52660326 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:52660326A>G uc010ydi.1 - 5 984 c.610T>C c.(610-612)TTA>CTA p.L204L ZNF836_uc010ydj.1_Silent_p.L204L NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGGGTGGGTAATGACAGCTGC 0.363 ZNF83 55769 broad.mit.edu 37 19 53117526 53117526 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:53117526G>A uc002pzu.3 - 2 1536 c.292C>T c.(292-294)CGT>TGT p.R98C ZNF83_uc002pzv.3_Missense_Mutation_p.R98C|ZNF83_uc010eps.2_Missense_Mutation_p.R98C|ZNF83_uc010ept.2_Missense_Mutation_p.R98C|ZNF83_uc010epu.2_Missense_Mutation_p.R98C|ZNF83_uc010epv.2_Missense_Mutation_p.R98C|ZNF83_uc010epw.2_Missense_Mutation_p.R98C|ZNF83_uc010epx.2_Missense_Mutation_p.R98C|ZNF83_uc010epy.2_Missense_Mutation_p.R98C|ZNF83_uc010epz.2_Missense_Mutation_p.R98C|ZNF83_uc010eqb.1_Missense_Mutation_p.R98C NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 98 C2H2-type 1; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) GCCTTGCCACGCTCACTACAT 0.333 ZNF28 7576 broad.mit.edu 37 19 53304670 53304670 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:53304670C>G uc002qad.2 - 4 548 c.428G>C c.(427-429)AGC>ACC p.S143T ZNF28_uc002qac.2_Missense_Mutation_p.S90T|ZNF28_uc010eqe.2_Missense_Mutation_p.S89T NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) CGAATGAAAGCTTAATCCAAG 0.413 ZNF160 90338 broad.mit.edu 37 19 53589549 53589549 + Translation_Start_Site SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:53589549C>A uc010eqk.2 - 4 397 c.-19G>T c.(-21--17)GAGGA>GATGA ZNF160_uc002qaq.3_Translation_Start_Site|ZNF160_uc002qar.3_Translation_Start_Site|ZNF160_uc002qas.3_Translation_Start_Site NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) CTTTTCTTTCCTCTTCCTCTT 0.413 LILRA3 11026 broad.mit.edu 37 19 54802622 54802622 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:54802622G>T uc002qfd.2 - 5 884 c.819C>A c.(817-819)CCC>CCA p.P273P LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.P209P NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 273 Ig-like C2-type 3. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCCCAGCCTGGGGCTGCCGGC 0.627 LILRA3 11026 broad.mit.edu 37 19 54802639 54802639 + Missense_Mutation SNP G G A rs143103718 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:54802639G>A uc002qfd.2 - 5 867 c.802C>T c.(802-804)CGC>TGC p.R268C LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.R204C NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 268 Ig-like C2-type 3. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGGCCAGGGCGCTGGAGGAAG 0.642 LENG9 94059 broad.mit.edu 37 19 54974255 54974255 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:54974255G>A uc010yez.1 - 1 640 c.521C>T c.(520-522)GCG>GTG p.A174V NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 174 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) CCCGCGTCCCGCCGCCGAGCC 0.726 TMEM86B 255043 broad.mit.edu 37 19 55738739 55738739 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:55738739C>T uc002qju.2 - 3 1014 c.491G>A c.(490-492)CGC>CAC p.R164H TMEM86B_uc002qjt.2_Missense_Mutation_p.R163H NM_173804 NP_776165 Q8N661 TM86B_HUMAN transmembrane protein 86B 164 Helical; (Potential). ether lipid metabolic process cytoplasmic part|integral to membrane alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) GGCCAGGCCGCGCCACAGCAT 0.701 ZNF71 58491 broad.mit.edu 37 19 57132978 57132978 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:57132978G>A uc002qnm.3 + 3 561 c.323G>A c.(322-324)GGC>GAC p.G108D NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 108 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GTAAGGCGTGGCAAGAACTTC 0.582 ZIM3 114026 broad.mit.edu 37 19 57647283 57647283 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:57647283A>G uc002qnz.1 - 5 808 c.422T>C c.(421-423)GTA>GCA p.V141A NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATTATTTTGTACATAGTGTTG 0.363 ZNF543 125919 broad.mit.edu 37 19 57840578 57840578 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:57840578A>G uc002qoi.1 + 4 2093 c.1748A>G c.(1747-1749)GAA>GGA p.E583G NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 583 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) AACATCCAGGAACTTTTATTA 0.403 ZNF419 79744 broad.mit.edu 37 19 58005213 58005213 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:58005213A>G uc002qov.2 + 5 1528 c.1288A>G c.(1288-1290)AGG>GGG p.R430G ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.R431G|ZNF419_uc010etz.1_Missense_Mutation_p.R418G|ZNF419_uc010eua.1_Missense_Mutation_p.R417G|ZNF419_uc002qow.2_Missense_Mutation_p.R398G|ZNF419_uc010eub.1_Missense_Mutation_p.R385G|ZNF419_uc010euc.1_Missense_Mutation_p.R384G NM_024691 NP_078967 Q96HQ0 ZN419_HUMAN zinc finger protein 419 isoform 2 430 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) TTATGAGTGCAGGGAATGTGG 0.413 ZNF773 374928 broad.mit.edu 37 19 58018753 58018753 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:58018753T>C uc002qox.2 + 4 1430 c.1290T>C c.(1288-1290)CTT>CTC p.L430L ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Silent_p.L429L|ZNF773_uc002qoz.2_Intron NM_198542 NP_940944 Q6PK81 ZN773_HUMAN zinc finger protein 773 430 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) GCTCCAGTCTTGTTAAACATC 0.423 ZNF135 7694 broad.mit.edu 37 19 58573064 58573064 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:58573064G>T uc010yhq.1 + 3 246 c.150G>T c.(148-150)CTG>CTT p.L50L ZNF135_uc002qre.2_Silent_p.L50L|ZNF135_uc002qrd.1_Silent_p.L8L|ZNF135_uc002qrf.2_Silent_p.L8L|ZNF135_uc002qrg.2_Silent_p.L8L|ZNF135_uc010yhr.1_Intron NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 50 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) TCAGGCTTCTGGTCTCTGTGG 0.522 ZNF497 162968 broad.mit.edu 37 19 58867759 58867759 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:58867759C>T uc002qsh.1 - 3 1432 c.1243G>A c.(1243-1245)GCC>ACC p.A415T A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.A415T|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank NM_198458 NP_940860 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 415 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0278) TCTGCGCAGGCGAAGGGTCGC 0.721 ZNF446 55663 broad.mit.edu 37 19 58991071 58991071 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:58991071A>C uc002qsz.2 + 5 806 c.689A>C c.(688-690)AAG>ACG p.K230T ZNF446_uc002qta.2_Intron|ZNF446_uc010eur.2_Missense_Mutation_p.K230T|SLC27A5_uc002qtb.2_RNA NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN zinc finger protein 446 230 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) ATGCTGGAGAAGTACGGCACA 0.667 TMEM18 129787 broad.mit.edu 37 2 675542 675542 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:675542T>C uc002qwl.2 - 2 240 c.146A>G c.(145-147)TAC>TGC p.Y49C TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank NM_152834 NP_690047 Q96B42 TMM18_HUMAN transmembrane protein 18 49 cell migration integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) CTGTAGTCTGTAGCTTCGGGA 0.527 TPO 7173 broad.mit.edu 37 2 1500522 1500522 + Missense_Mutation SNP C C T rs113070603 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:1500522C>T uc002qww.2 + 13 2462 c.2371C>T c.(2371-2373)CCT>TCT p.P791S TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.P734S|TPO_uc002qwr.2_Missense_Mutation_p.P791S|TPO_uc002qwx.2_Missense_Mutation_p.P734S|TPO_uc010yio.1_Missense_Mutation_p.P618S|TPO_uc010yip.1_Missense_Mutation_p.P791S|TPO_uc002qwy.1_Missense_Mutation_p.P131S|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 791 Extracellular (Potential).|Sushi. cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGATTTCCAGCCTCCCCTCTG 0.493 TPO 7173 broad.mit.edu 37 2 1544465 1544465 + Silent SNP G G A rs149611408 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:1544465G>A uc002qww.2 + 16 2809 c.2718G>A c.(2716-2718)CCG>CCA p.P906P TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.P849P|TPO_uc002qwr.2_Silent_p.P906P|TPO_uc002qwx.2_Silent_p.P849P|TPO_uc010yio.1_Silent_p.P733P|TPO_uc010yip.1_Silent_p.P862P|TPO_uc002qwy.1_Silent_p.P202P|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 906 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGACCTCACCGCAGCGGGCCG 0.642 PXDN 7837 broad.mit.edu 37 2 1670198 1670198 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:1670198G>A uc002qxa.2 - 10 1143 c.1079C>T c.(1078-1080)ACG>ATG p.T360M PXDN_uc002qxb.1_Missense_Mutation_p.T360M|PXDN_uc002qxc.1_Missense_Mutation_p.T177M NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 360 Ig-like C2-type 2. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCACTCCAGCGTGACGCTCTC 0.572 PXDN 7837 broad.mit.edu 37 2 1684063 1684063 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:1684063G>A uc002qxa.2 - 7 696 c.632C>T c.(631-633)GCG>GTG p.A211V PXDN_uc002qxb.1_Missense_Mutation_p.A211V|PXDN_uc002qxc.1_Missense_Mutation_p.A28V NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 211 LRRCT. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCCCGACTCCGCGTAGGTTTT 0.577 MYT1L 23040 broad.mit.edu 37 2 1926341 1926341 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:1926341C>T uc002qxe.2 - 10 2027 c.1200G>A c.(1198-1200)GCG>GCA p.A400A MYT1L_uc002qxd.2_Silent_p.A400A|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 400 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CATCCTCCTTCGCACAGCTGG 0.597 COLEC11 78989 broad.mit.edu 37 2 3687869 3687869 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:3687869T>C uc002qya.2 + 5 424 c.276T>C c.(274-276)GGT>GGC p.G92G COLEC11_uc002qxz.2_Silent_p.G89G|COLEC11_uc002qyb.2_Silent_p.G68G|COLEC11_uc002qyc.2_Silent_p.G68G|COLEC11_uc010ewo.2_Silent_p.G44G|COLEC11_uc010ewp.2_Silent_p.G66G|COLEC11_uc010ewq.2_Silent_p.G42G|COLEC11_uc010ewr.2_Silent_p.G42G|COLEC11_uc010ews.2_Silent_p.G18G NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 92 Collagen-like. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) TATTTTCAGGTGAGAAAGGAG 0.388 HPCAL1 3241 broad.mit.edu 37 2 10566920 10566920 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:10566920C>T uc002raj.2 + 5 929 c.555C>T c.(553-555)TGC>TGT p.C185C HPCAL1_uc002rak.2_Silent_p.C185C|HPCAL1_uc002ral.2_Silent_p.C185C|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.C185C NM_002149 NP_002140 P37235 HPCL1_HUMAN hippocalcin-like 1 185 calcium ion binding pancreas(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) TGCTGCAGTGCGACCCCAGCA 0.572 MSGN1 343930 broad.mit.edu 37 2 17998228 17998228 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:17998228G>A uc010yjt.1 + 1 443 c.443G>A c.(442-444)CGG>CAG p.R148Q NM_001105569 NP_001099039 A6NI15 MSGN1_HUMAN mesogenin 1 148 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CACACCCTCCGGAATTACCTG 0.572 WDR35 57539 broad.mit.edu 37 2 20130156 20130156 + Splice_Site SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:20130156C>T uc002rdi.2 - 26 3262 c.3154_splice c.e26+1 p.A1052_splice WDR35_uc002rdj.2_Splice_Site_p.A1041_splice|WDR35_uc010ext.2_Splice_Site|WDR35_uc002rdh.2_Splice_Site_p.V525_splice NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACATGCCCACCTGTCTTCAG 0.423 GDF7 151449 broad.mit.edu 37 2 20870891 20870891 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:20870891G>A uc002rdz.1 + 2 1635 c.1059G>A c.(1057-1059)CCG>CCA p.P353P NM_182828 NP_878248 Q7Z4P5 GDF7_HUMAN growth differentiation factor 7 preproprotein 353 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCGCAAGCCGTTGCACGTGG 0.537 POMC 5443 broad.mit.edu 37 2 25384348 25384348 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:25384348T>C uc002rfy.1 - 4 669 c.406A>G c.(406-408)AAG>GAG p.K136E POMC_uc002rfz.1_Missense_Mutation_p.K136E|POMC_uc002rga.1_Missense_Mutation_p.K136E NM_001035256 NP_001030333 P01189 COLI_HUMAN proopiomelanocortin preproprotein 136 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TAGGAGCGCTTGCCCTCGCGC 0.721 DNMT3A 1788 broad.mit.edu 37 2 25523110 25523110 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:25523110G>A uc002rgc.2 - 3 332 c.75C>T c.(73-75)GAC>GAT p.D25D DNMT3A_uc002rgd.2_Silent_p.D25D|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Silent_p.D22D|DNMT3A_uc002rgf.2_Silent_p.D25D NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 25 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTCCTCTCCGTCCTGCAGGC 0.687 Mis|F|N|S AML OTOF 9381 broad.mit.edu 37 2 26684657 26684657 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:26684657T>C uc002rhk.2 - 43 5567 c.5440A>G c.(5440-5442)ATG>GTG p.M1814V OTOF_uc010yla.1_Missense_Mutation_p.M544V|OTOF_uc002rhh.2_Missense_Mutation_p.M1047V|OTOF_uc002rhi.2_Missense_Mutation_p.M1124V|OTOF_uc002rhj.2_Missense_Mutation_p.M1047V NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1814 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGAGAACATGGACTCCTTC 0.607 EMILIN1 11117 broad.mit.edu 37 2 27306603 27306603 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:27306603A>C uc002rii.3 + 4 2592 c.2164A>C c.(2164-2166)AGC>CGC p.S722R EMILIN1_uc002rik.3_5'UTR NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 722 Potential. cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGTGCCCCAGCTTAGAGGG 0.627 EIF2B4 8890 broad.mit.edu 37 2 27591882 27591882 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:27591882T>G uc002rkb.2 - 4 552 c.409A>C c.(409-411)ACC>CCC p.T137P EIF2B4_uc002rjz.2_Missense_Mutation_p.T157P|EIF2B4_uc002rka.2_Missense_Mutation_p.T122P|EIF2B4_uc002rkc.2_Missense_Mutation_p.T136P|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Missense_Mutation_p.T106P|EIF2B4_uc002rkf.1_Missense_Mutation_p.T106P|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank NM_001034116 NP_001029288 Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, 137 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGAGGGGGTTTCTCCAGCT 0.552 C2orf16 84226 broad.mit.edu 37 2 27801187 27801187 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:27801187C>T uc002rkz.3 + 1 1799 c.1748C>T c.(1747-1749)ACA>ATA p.T583I NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 583 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) GTGGAGTTGACAGGGTTTCAA 0.413 C2orf16 84226 broad.mit.edu 37 2 27803773 27803773 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:27803773A>G uc002rkz.3 + 1 4385 c.4334A>G c.(4333-4335)TAC>TGC p.Y1445C 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 1445 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) AGAAGAGCTTACTCTTTCCAA 0.527 RBKS 64080 broad.mit.edu 37 2 28050499 28050499 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:28050499G>A uc002rlo.1 - 7 741 c.730C>T c.(730-732)CTG>TTG p.L244L RBKS_uc010ezi.1_Silent_p.L177L|RBKS_uc010ymg.1_Silent_p.L244L NM_022128 NP_071411 Q9H477 RBSK_HUMAN ribokinase 244 D-ribose metabolic process ATP binding|ribokinase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155) GTCTGTGACAGCACCACACAT 0.493 TTC27 55622 broad.mit.edu 37 2 32961876 32961876 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:32961876A>G uc002rom.2 + 12 1676 c.1445A>G c.(1444-1446)CAC>CGC p.H482R TTC27_uc010ymx.1_Missense_Mutation_p.H432R|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 482 TPR 2. protein binding central_nervous_system(1) 1 GCCGGGCAGCACGGAAAGGTA 0.423 DHX57 90957 broad.mit.edu 37 2 39095333 39095333 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:39095333C>T uc002rrf.2 - 2 314 c.215G>A c.(214-216)CGC>CAC p.R72H DHX57_uc002rre.2_5'Flank|DHX57_uc002rrg.2_Missense_Mutation_p.R72H NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 72 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) CCTGGAAGGGCGCCTTGATTC 0.338 PKDCC 91461 broad.mit.edu 37 2 42281307 42281307 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:42281307C>T uc002rsg.2 + 3 1073 c.894C>T c.(892-894)GAC>GAT p.D298D NM_138370 NP_612379 Q504Y2 PKDCC_HUMAN protein kinase-like protein SgK493 298 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(1) 1 ACCTGGATGACGCACGTGTGG 0.647 COX7A2L 9167 broad.mit.edu 37 2 42578377 42578377 + Silent SNP C C T rs79591809 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:42578377C>T uc002rsk.2 - 3 382 c.327G>A c.(325-327)TCG>TCA p.S109S COX7A2L_uc002rsl.2_RNA NM_004718 NP_004709 O14548 COX7R_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 109 respiratory electron transport chain mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity 0 TTTTGGGCTGCGAAGCCATGT 0.453 MCFD2 90411 broad.mit.edu 37 2 47135054 47135054 + Silent SNP C C T rs144700781 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:47135054C>T uc002rvk.2 - 3 298 c.204G>A c.(202-204)TCG>TCA p.S68S MCFD2_uc002rvl.2_Silent_p.S16S|MCFD2_uc010fba.2_Silent_p.S66S|MCFD2_uc010yof.1_Silent_p.S49S NM_139279 NP_644808 Q8NI22 MCFD2_HUMAN multiple coagulation factor deficiency 2 68 EF-hand 1. post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus calcium ion binding central_nervous_system(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Antihemophilic Factor(DB00025) ATTCTTGTGGCGACATCTCCG 0.428 PSME4 23198 broad.mit.edu 37 2 54164655 54164655 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:54164655C>T uc002rxp.2 - 5 624 c.568G>A c.(568-570)GCT>ACT p.A190T PSME4_uc010yop.1_Missense_Mutation_p.A76T|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 190 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGCATCTCAGCGGTGGCATCT 0.368 ARHGAP25 9938 broad.mit.edu 37 2 69049486 69049486 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:69049486T>C uc002seu.2 + 10 1576 c.1212T>C c.(1210-1212)GAT>GAC p.D404D ARHGAP25_uc010fdg.2_Silent_p.D405D|ARHGAP25_uc010yql.1_Silent_p.D365D|ARHGAP25_uc002sew.2_Silent_p.D397D|ARHGAP25_uc002sex.2_Silent_p.D398D|ARHGAP25_uc002sey.2_Silent_p.D131D NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 404 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 GCGACTCTGATACAACCAGCC 0.517 AAK1 22848 broad.mit.edu 37 2 69741805 69741805 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:69741805T>G uc002sfp.2 - 13 2079 c.1574A>C c.(1573-1575)CAG>CCG p.Q525P AAK1_uc010fdk.2_Missense_Mutation_p.Q525P|AAK1_uc010yqm.1_Missense_Mutation_p.Q525P NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 525 Gln-rich. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 CATTAGCTGCTGTTGAGAGCC 0.388 ZNF638 27332 broad.mit.edu 37 2 71577170 71577170 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:71577170A>G uc002shx.2 + 2 1405 c.1086A>G c.(1084-1086)GTA>GTG p.V362V ZNF638_uc010fec.2_Silent_p.V468V|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Silent_p.V362V|ZNF638_uc002shy.2_Silent_p.V362V|ZNF638_uc002shz.2_Silent_p.V362V|ZNF638_uc002sia.2_Silent_p.V362V|ZNF638_uc002sib.1_Silent_p.V362V NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 362 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 CATCTAACGTACATGTTGGAT 0.428 CCDC142 84865 broad.mit.edu 37 2 74702431 74702431 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:74702431C>T uc002slr.2 - 7 2110 c.1717G>A c.(1717-1719)GCC>ACC p.A573T MRPL53_uc002sln.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.A566T|CCDC142_uc002slp.2_Missense_Mutation_p.A573T NM_032779 NP_116168 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 573 central_nervous_system(1) 1 AGGGCAGGGGCCTGGGCTTGA 0.572 DQX1 165545 broad.mit.edu 37 2 74746779 74746779 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:74746779C>T uc010yrw.1 - 10 1875 c.1710G>A c.(1708-1710)ATG>ATA p.M570I DQX1_uc002smc.2_Missense_Mutation_p.M131I NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 570 nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 CAATTCGTTGCATGAGTTCTA 0.512 TACR1 6869 broad.mit.edu 37 2 75347784 75347784 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:75347784T>C uc002sng.2 - 2 1085 c.500A>G c.(499-501)TAC>TGC p.Y167C TACR1_uc002snh.2_Missense_Mutation_p.Y167C NM_001058 NP_001049 P25103 NK1R_HUMAN tachykinin receptor 1 isoform long 167 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding ovary(1) 1 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GGTTGAGTAGTAGCCCTGGGG 0.547 CTNNA2 1496 broad.mit.edu 37 2 80773145 80773145 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:80773145C>T uc010ysh.1 + 10 1502 c.1497C>T c.(1495-1497)GCC>GCT p.A499A CTNNA2_uc010yse.1_Silent_p.A499A|CTNNA2_uc010ysf.1_Silent_p.A499A|CTNNA2_uc010ysg.1_Silent_p.A499A|CTNNA2_uc010ysi.1_Silent_p.A131A NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 499 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TGACAGAGGCCGTGGATGACA 0.532 SUCLG1 8802 broad.mit.edu 37 2 84668521 84668521 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:84668521A>G uc002son.2 - 4 574 c.381T>C c.(379-381)GCT>GCC p.A127A SUCLG1_uc010ysk.1_Silent_p.A114A NM_003849 NP_003840 P53597 SUCA_HUMAN succinate-CoA ligase, GDP-forming alpha subunit 127 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity 0 Succinic acid(DB00139) CATTAATGGCAGCAGCAGCAA 0.453 TCF7L1 83439 broad.mit.edu 37 2 85536512 85536512 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:85536512C>T uc002soy.2 + 12 1768 c.1694C>T c.(1693-1695)ACG>ATG p.T565M NM_031283 NP_112573 Q9HCS4 TF7L1_HUMAN HMG-box transcription factor TCF-3 565 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1)|central_nervous_system(1) 3 TTCCCCGCCACGCTCCATGCC 0.697 GGCX 2677 broad.mit.edu 37 2 85779652 85779652 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:85779652G>A uc002sps.2 - 10 1432 c.1326C>T c.(1324-1326)GAC>GAT p.D442D GGCX_uc010yss.1_Silent_p.D281D|GGCX_uc010yst.1_Silent_p.D385D NM_000821 NP_000812 P38435 VKGC_HUMAN gamma-glutamyl carboxylase isoform 1 442 Lumenal (Potential). blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity ovary(1) 1 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) GCTTCAGCATGTCTGCATGAT 0.478 OREG0014747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) POLR1A 25885 broad.mit.edu 37 2 86266558 86266558 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:86266558G>A uc002sqs.2 - 26 4147 c.3768C>T c.(3766-3768)AGC>AGT p.S1256S POLR1A_uc010ytb.1_Silent_p.S622S|POLR1A_uc002sqt.1_Silent_p.S279S NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1256 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 TGATGTTGGCGCTGGCCACCA 0.522 SNRNP200 23020 broad.mit.edu 37 2 96956125 96956125 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:96956125A>G uc002svu.2 - 20 2767 c.2681T>C c.(2680-2682)GTT>GCT p.V894A SNRNP200_uc002svw.1_5'Flank NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 894 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 AAGCTTTGAAACCATCTGGCT 0.478 ZAP70 7535 broad.mit.edu 37 2 98354255 98354255 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:98354255C>T uc002syd.1 + 12 1725 c.1518C>T c.(1516-1518)TAC>TAT p.Y506Y ZAP70_uc002sye.1_Silent_p.Y396Y|ZAP70_uc002syf.1_Silent_p.Y199Y NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 506 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 TCAAGTGGTACGCACCCGAAT 0.632 TSGA10 80705 broad.mit.edu 37 2 99695187 99695187 + Missense_Mutation SNP G G T rs17852533 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:99695187G>T uc002szg.3 - 10 1445 c.817C>A c.(817-819)CTG>ATG p.L273M TSGA10_uc002szh.3_Missense_Mutation_p.L273M|TSGA10_uc002szi.3_Missense_Mutation_p.L273M|TSGA10_uc010fin.1_Missense_Mutation_p.L273M|TSGA10_uc010yvn.1_Missense_Mutation_p.L273M NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 273 L -> M (in Ref. 5; AAH28366). spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 CATGCTTGCAGGCATTCCTTT 0.378 C2orf15 150590 broad.mit.edu 37 2 99767017 99767017 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:99767017T>C uc002szk.2 + 4 497 c.98T>C c.(97-99)ATC>ACC p.I33T TSGA10_uc002szi.3_Intron|MRPL30_uc002szl.1_Intron NM_144706 NP_653307 Q8WU43 CB015_HUMAN hypothetical protein LOC150590 33 0 TGTTCAGCTATCCTAATGGGA 0.328 EIF5B 9669 broad.mit.edu 37 2 99978135 99978135 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:99978135A>G uc002tab.2 + 4 955 c.771A>G c.(769-771)GAA>GAG p.E257E NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 257 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 AAGAAAAAGAAGAGTTAGAAA 0.378 NPAS2 4862 broad.mit.edu 37 2 101565870 101565870 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:101565870A>G uc002tap.1 + 7 812 c.526A>G c.(526-528)AGC>GGC p.S176G NPAS2_uc010yvt.1_Missense_Mutation_p.S241G NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 176 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 TCTCAGAGGCAGCTTGAACCC 0.388 MAP4K4 9448 broad.mit.edu 37 2 102476242 102476242 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:102476242A>G uc002tbg.2 + 15 1675 c.1620A>G c.(1618-1620)CCA>CCG p.P540P MAP4K4_uc002tbc.2_Silent_p.P540P|MAP4K4_uc002tbd.2_Silent_p.P509P|MAP4K4_uc002tbe.2_Silent_p.P509P|MAP4K4_uc002tbf.2_Silent_p.P509P|MAP4K4_uc010yvy.1_Silent_p.P509P|MAP4K4_uc002tbh.2_Silent_p.P509P|MAP4K4_uc002tbi.2_Silent_p.P393P|MAP4K4_uc010yvz.1_Silent_p.P489P|MAP4K4_uc002tbk.2_Silent_p.P49P|MAP4K4_uc002tbj.1_Silent_p.P405P NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 540 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 AGCAGCCGCCACCACCGCAGC 0.592 UXS1 80146 broad.mit.edu 37 2 106717534 106717534 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:106717534C>T uc002tdm.2 - 12 1047 c.949G>A c.(949-951)GTC>ATC p.V317I UXS1_uc002tdl.2_Missense_Mutation_p.V149I|UXS1_uc002tdn.2_Missense_Mutation_p.V322I|UXS1_uc002tdo.2_Missense_Mutation_p.V260I|UXS1_uc010ywh.1_Missense_Mutation_p.V161I NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 317 Lumenal (Potential). cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity ovary(2) 2 GGGCTGCTGACGTTGCTGTTC 0.552 SULT1C4 27233 broad.mit.edu 37 2 108994805 108994805 + Silent SNP C C T rs144464562 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:108994805C>T uc002tea.1 + 1 385 c.12C>T c.(10-12)CAC>CAT p.H4H SULT1C4_uc002tdz.2_Silent_p.H4H|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.H4H NM_006588 NP_006579 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 4 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity 0 TGGCCTTACACGACATGGAGG 0.448 ANAPC1 64682 broad.mit.edu 37 2 112601029 112601029 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:112601029A>G uc002thi.2 - 17 2247 c.2000T>C c.(1999-2001)ATG>ACG p.M667T NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 667 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 ATAACCCATCATGTTCATGAG 0.378 ANAPC1 64682 broad.mit.edu 37 2 112621311 112621311 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:112621311T>C uc002thi.2 - 9 1240 c.993A>G c.(991-993)TCA>TCG p.S331S NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 331 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 GTGATGAGGTTGAGCGACTCT 0.473 IL1F9 56300 broad.mit.edu 37 2 113742478 113742478 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:113742478G>A uc002tio.1 + 5 431 c.362G>A c.(361-363)CGT>CAT p.R121H IL1F9_uc010fkr.1_Missense_Mutation_p.R86H NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN interleukin 1 family, member 9 121 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 CTTTTCTACCGTGCCAAGACT 0.512 SLC35F5 80255 broad.mit.edu 37 2 114512832 114512832 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:114512832A>G uc002tku.1 - 3 607 c.183T>C c.(181-183)AGT>AGC p.S61S SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Silent_p.S55S|SLC35F5_uc002tkw.2_Silent_p.S61S NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 61 transport integral to membrane 0 GAGTGAAACCACTGTTCTGGG 0.393 DPP10 57628 broad.mit.edu 37 2 116520172 116520172 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:116520172T>C uc002tla.1 + 12 1556 c.1099T>C c.(1099-1101)TGG>CGG p.W367R DPP10_uc002tlb.1_Missense_Mutation_p.W317R|DPP10_uc002tlc.1_Missense_Mutation_p.W363R|DPP10_uc002tle.2_Missense_Mutation_p.W371R|DPP10_uc002tlf.1_Missense_Mutation_p.W360R NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 367 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ATCAGATACGTGGCTCTCTCA 0.343 CNTNAP5 129684 broad.mit.edu 37 2 125192170 125192170 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:125192170A>T uc002tno.2 + 5 1003 c.639A>T c.(637-639)CAA>CAT p.Q213H CNTNAP5_uc010flu.2_Missense_Mutation_p.Q213H NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 213 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGAGCATGCAAGGAGATGGGG 0.507 CYP27C1 339761 broad.mit.edu 37 2 127952980 127952980 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:127952980C>A uc002tod.2 - 5 781 c.650G>T c.(649-651)AGG>ATG p.R217M NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, 217 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) TGGAACATGCCTTTCCCCTAA 0.532 PROC 5624 broad.mit.edu 37 2 128186037 128186037 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:128186037G>A uc002tok.2 + 9 974 c.901G>A c.(901-903)GCA>ACA p.A301T PROC_uc002tol.2_Missense_Mutation_p.A322T|PROC_uc010yzi.1_Missense_Mutation_p.A357T|PROC_uc010yzj.1_Missense_Mutation_p.A196T|PROC_uc010yzk.1_Missense_Mutation_p.A356T|PROC_uc002tom.2_Missense_Mutation_p.A335T NM_000312 NP_000303 P04070 PROC_HUMAN protein C 301 Peptidase S1. A -> V (in patients with PROC deficiency).|A -> T (in patients with PROC deficiency). blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) CAATGACATCGCACTGCTGCA 0.637 LIMS2 55679 broad.mit.edu 37 2 128400603 128400603 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:128400603A>G uc002tpa.2 - 5 570 c.404T>C c.(403-405)CTG>CCG p.L135P LIMS2_uc002tou.2_5'Flank|LIMS2_uc002tov.2_5'UTR|LIMS2_uc002tow.2_5'UTR|LIMS2_uc002tox.2_Missense_Mutation_p.L159P|LIMS2_uc010fmb.2_Missense_Mutation_p.L45P|LIMS2_uc002toy.2_Missense_Mutation_p.L130P|LIMS2_uc010yzm.1_Missense_Mutation_p.L157P|LIMS2_uc002toz.2_Missense_Mutation_p.L130P|LIMS2_uc002tpb.2_Missense_Mutation_p.L130P|GPR17_uc010yzn.1_5'Flank|GPR17_uc002tpc.2_5'Flank|GPR17_uc010yzo.1_5'Flank|GPR17_uc002tpd.2_5'Flank NM_001161403 NP_001154875 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 135 cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) GTACTTGCCCAGGCCCTTGGC 0.657 SAP130 79595 broad.mit.edu 37 2 128712741 128712741 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:128712741G>A uc002tpp.2 - 15 2346 c.2214C>T c.(2212-2214)GCC>GCT p.A738A SAP130_uc002tpn.2_Silent_p.A498A|SAP130_uc002tpo.2_Silent_p.A518A|SAP130_uc010fmd.2_Silent_p.A773A|SAP130_uc002tpq.1_Silent_p.A746A NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 738 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) AAAGGGCAACGGCTGGTTGTG 0.577 CCDC74B 91409 broad.mit.edu 37 2 130897150 130897150 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:130897150C>T uc002tqm.1 - 8 1183 c.1121G>A c.(1120-1122)CGC>CAC p.R374H CCDC74B_uc010yzw.1_Missense_Mutation_p.R476H|CCDC74B_uc002tqn.1_Missense_Mutation_p.R308H NM_207310 NP_997193 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 374 0 Colorectal(110;0.1) GCGATGCAGGCGCCGTTTCTG 0.597 TUBA3E 112714 broad.mit.edu 37 2 130951615 130951615 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:130951615A>G uc002tqv.2 - 4 901 c.800T>C c.(799-801)TTC>TCC p.F267S NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 267 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) GGCCAGGGGGAAGTGGATGCG 0.602 NCKAP5 344148 broad.mit.edu 37 2 133542601 133542601 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:133542601T>A uc002ttp.2 - 14 2157 c.1783A>T c.(1783-1785)AGC>TGC p.S595C NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 595 protein binding 0 TCATCACTGCTCTCTATGTGC 0.527 THSD7B 80731 broad.mit.edu 37 2 138208468 138208468 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:138208468G>A uc002tva.1 + 14 2920 c.2920G>A c.(2920-2922)GAT>AAT p.D974N THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CAAGTTAAGCGATTGGTCTAG 0.388 LRP1B 53353 broad.mit.edu 37 2 141458106 141458106 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:141458106G>A uc002tvj.1 - 41 7484 c.6512C>T c.(6511-6513)GCC>GTC p.A2171V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2171 Extracellular (Potential).|EGF-like 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATATCCATGGGCACAAGCACA 0.408 TSP Lung(27;0.18) ZEB2 9839 broad.mit.edu 37 2 145156685 145156685 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:145156685T>C uc002tvu.2 - 8 2549 c.2069A>G c.(2068-2070)GAA>GGA p.E690G ZEB2_uc002tvv.2_Missense_Mutation_p.E684G|ZEB2_uc010zbm.1_Missense_Mutation_p.E661G|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.E719G NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 690 Homeobox; atypical. cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TTCAAACCATTCCTTCACAAA 0.468 GPD2 2820 broad.mit.edu 37 2 157425876 157425876 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:157425876T>C uc002tzf.3 + 11 1662 c.1302T>C c.(1300-1302)GGT>GGC p.G434G GPD2_uc010zch.1_Silent_p.G207G|GPD2_uc002tzd.3_Silent_p.G434G|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 434 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 TCTTTATAGGTGGAAAGTGGA 0.343 ACVR1 90 broad.mit.edu 37 2 158634684 158634684 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:158634684C>T uc002tzm.3 - 6 841 c.502G>A c.(502-504)GAA>AAA p.E168K ACVR1_uc002tzn.3_Missense_Mutation_p.E168K|ACVR1_uc010fog.2_Missense_Mutation_p.E168K NM_001111067 NP_001104537 Q04771 ACVR1_HUMAN activin A receptor, type I precursor 168 Cytoplasmic (Potential). BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) ATGAGCCCTTCGATAGTGCCA 0.498 TANC1 85461 broad.mit.edu 37 2 160019872 160019872 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:160019872T>C uc002uag.2 + 8 1035 c.761T>C c.(760-762)TTA>TCA p.L254S TANC1_uc010fol.1_Missense_Mutation_p.L148S|TANC1_uc010zcm.1_Missense_Mutation_p.L253S|TANC1_uc010fom.1_Intron NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 254 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 AACCTAAGATTAGGGGTTCAG 0.493 TANC1 85461 broad.mit.edu 37 2 160031474 160031474 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:160031474A>G uc002uag.2 + 12 1788 c.1514A>G c.(1513-1515)TAC>TGC p.Y505C TANC1_uc010fol.1_Missense_Mutation_p.Y399C|TANC1_uc010zcm.1_Missense_Mutation_p.Y497C|TANC1_uc010fom.1_Missense_Mutation_p.Y311C|TANC1_uc002uai.1_5'Flank NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 505 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 GTGGTGGCCTACCACTACTGC 0.577 XIRP2 129446 broad.mit.edu 37 2 168104267 168104267 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:168104267G>A uc002udx.2 + 8 6383 c.6365G>A c.(6364-6366)GGA>GAA p.G2122E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G1947E|XIRP2_uc010fpq.2_Missense_Mutation_p.G1900E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'UTR NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1947 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AAAACCGTTGGAAAGCAACAG 0.348 XIRP2 129446 broad.mit.edu 37 2 168107832 168107832 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:168107832G>T uc002udx.2 + 8 9948 c.9930G>T c.(9928-9930)CAG>CAT p.Q3310H XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q3135H|XIRP2_uc010fpq.2_Missense_Mutation_p.Q3088H|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3135 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGCACACACAGAGATATGAAG 0.458 ABCB11 8647 broad.mit.edu 37 2 169828384 169828384 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:169828384G>T uc002ueo.1 - 14 1737 c.1611C>A c.(1609-1611)GCC>GCA p.A537A ABCB11_uc010zda.1_5'UTR|ABCB11_uc010zdb.1_Silent_p.A13A NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 537 Cytoplasmic (Potential).|ABC transporter 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TGAAGTTGTAGGCATTGGCCT 0.448 LRP2 4036 broad.mit.edu 37 2 170134319 170134319 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:170134319G>A uc002ues.2 - 13 1921 c.1708C>T c.(1708-1710)CGT>TGT p.R570C LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 570 LDL-receptor class B 4.|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) CAGTAAACACGCTTCGATATC 0.408 PPIG 9360 broad.mit.edu 37 2 170488344 170488344 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:170488344T>A uc002uez.2 + 11 1050 c.830T>A c.(829-831)ATC>AAC p.I277N PPIG_uc010fpx.2_Missense_Mutation_p.I262N|PPIG_uc010fpy.2_Missense_Mutation_p.I270N|PPIG_uc002ufa.2_Missense_Mutation_p.I277N|PPIG_uc002ufb.2_Missense_Mutation_p.I277N|PPIG_uc002ufd.2_Missense_Mutation_p.I274N NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 277 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) CCAGAAGAGATCCCTCCTATA 0.328 PHOSPHO2 493911 broad.mit.edu 37 2 170558005 170558005 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:170558005T>A uc002ufg.2 + 4 912 c.524T>A c.(523-525)GTT>GAT p.V175D KLHL23_uc002ufh.1_Intron NM_001008489 NP_001008489 Q8TCD6 PHOP2_HUMAN phosphatase, orphan 2 175 metal ion binding|pyridoxal phosphatase activity skin(1) 1 ACACAAATTGTTTATATTGGT 0.348 HOXD12 3238 broad.mit.edu 37 2 176964613 176964613 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:176964613C>T uc010zev.1 + 1 84 c.84C>T c.(82-84)AAC>AAT p.N28N HOXD12_uc010zew.1_Silent_p.N28N NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 28 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) ACTTCTCCAACCTGAGGCCGA 0.662 HOXD10 3236 broad.mit.edu 37 2 176981694 176981694 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:176981694A>G uc002ukj.2 + 1 203 c.133A>G c.(133-135)ACC>GCC p.T45A NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 45 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) AGACATGGGGACCTATGGAAT 0.468 TTN 7273 broad.mit.edu 37 2 179399998 179399998 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:179399998T>C uc010zfg.1 - 307 93864 c.93640A>G c.(93640-93642)ACC>GCC p.T31214A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T24909A|TTN_uc010zfi.1_Missense_Mutation_p.T24842A|TTN_uc010zfj.1_Missense_Mutation_p.T24717A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32141 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) TCTTCTTTGGTTATGGTTGGT 0.408 TTN 7273 broad.mit.edu 37 2 179407619 179407619 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:179407619C>T uc010zfg.1 - 297 89482 c.89258G>A c.(89257-89259)GGC>GAC p.G29753D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G23448D|TTN_uc010zfi.1_Missense_Mutation_p.G23381D|TTN_uc010zfj.1_Missense_Mutation_p.G23256D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30680 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) TACTGGTCTGCCAGCTGGGAC 0.458 TTN 7273 broad.mit.edu 37 2 179451992 179451992 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:179451992C>T uc010zfg.1 - 256 56466 c.56242G>A c.(56242-56244)GTT>ATT p.V18748I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12443I|TTN_uc010zfi.1_Missense_Mutation_p.V12376I|TTN_uc010zfj.1_Missense_Mutation_p.V12251I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19675 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) TCTGGGGTAACGGTCGACCAT 0.488 TTN 7273 broad.mit.edu 37 2 179471746 179471746 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:179471746A>G uc010zfg.1 - 227 46101 c.45877_splice c.e227+1 p.G15293_splice uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.G8988_splice|TTN_uc010zfi.1_Splice_Site_p.G8921_splice|TTN_uc010zfj.1_Splice_Site_p.G8796_splice NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 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) CTTCTCTTTTACCTAGTGGAT 0.373 TTN 7273 broad.mit.edu 37 2 179485917 179485917 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:179485917T>C uc010zfg.1 - 195 38048 c.37824A>G c.(37822-37824)CTA>CTG p.L12608L TTN_uc010zfh.1_Silent_p.L6303L|TTN_uc010zfi.1_Silent_p.L6236L|TTN_uc010zfj.1_Silent_p.L6111L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13535 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) CTTTCACAACTAGGACCCTCT 0.433 TTN 7273 broad.mit.edu 37 2 179486301 179486301 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:179486301T>C uc010zfg.1 - 194 37770 c.37546A>G c.(37546-37548)AAG>GAG p.K12516E TTN_uc010zfh.1_Missense_Mutation_p.K6211E|TTN_uc010zfi.1_Missense_Mutation_p.K6144E|TTN_uc010zfj.1_Missense_Mutation_p.K6019E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13443 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) AGGATTCTCTTCCGTCCTTCA 0.468 TTN 7273 broad.mit.edu 37 2 179599675 179599675 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:179599675T>C uc010zfg.1 - 48 11468 c.11244A>G c.(11242-11244)TTA>TTG p.L3748L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L409L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4675 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) CTGGGAGCATTAAATAAGAGG 0.403 TTN 7273 broad.mit.edu 37 2 179614709 179614709 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:179614709T>C uc002unb.2 - 46 12642 c.12418A>G c.(12418-12420)ACT>GCT p.T4140A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTGATTGAGTAACTTGATCT 0.393 NEUROD1 4760 broad.mit.edu 37 2 182543033 182543033 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:182543033C>T uc002uof.2 - 2 791 c.555G>A c.(553-555)GCG>GCA p.A185A CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 185 A -> G (in Ref. 2; BAA11558 and 5; BAA87605). amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCAGGCAGCCCGCAACCAGGT 0.607 NCKAP1 10787 broad.mit.edu 37 2 183860523 183860523 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:183860523C>T uc002upc.2 - 7 1049 c.647G>A c.(646-648)CGA>CAA p.R216Q NCKAP1_uc002upb.2_Missense_Mutation_p.R222Q NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 216 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) AAGATTCCTTCGAGGATATAC 0.378 TFPI 7035 broad.mit.edu 37 2 188332652 188332652 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:188332652G>T uc002upx.2 - 7 669 c.636C>A c.(634-636)CAC>CAA p.H212Q TFPI_uc002upy.2_Missense_Mutation_p.H212Q|TFPI_uc002upz.2_Missense_Mutation_p.H208Q NM_006287 NP_006278 P10646 TFPI1_HUMAN tissue factor pathway inhibitor isoform a 212 blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) ATGAGGGACCGTGAAATTCTA 0.388 DNAH7 56171 broad.mit.edu 37 2 196746682 196746682 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:196746682A>G uc002utj.3 - 36 5899 c.5798T>C c.(5797-5799)TTG>TCG p.L1933S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1933 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGCTTCTTTCAATTTCTTTAT 0.338 C2orf66 401027 broad.mit.edu 37 2 197672182 197672182 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:197672182A>G uc002utv.2 - 2 1228 c.339T>C c.(337-339)AAT>AAC p.N113N NM_213608 NP_998773 Q6UXQ4 CB066_HUMAN hypothetical protein LOC401027 precursor 113 extracellular region 0 CTTTGAGATAATTGTGAAAGG 0.398 CTLA4 1493 broad.mit.edu 37 2 204735621 204735621 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:204735621T>C uc002vak.1 + 2 579 c.422T>C c.(421-423)CTG>CCG p.L141P CTLA4_uc002val.1_Missense_Mutation_p.L141P|CTLA4_uc010fty.1_Intron|CTLA4_uc010ftz.1_Intron NM_005214 NP_005205 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 141 Extracellular (Potential). B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm 0 Abatacept(DB01281) CCATACTACCTGGGCATAGGC 0.483 PARD3B 117583 broad.mit.edu 37 2 206050586 206050586 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:206050586A>G uc002var.1 + 14 2230 c.2023A>G c.(2023-2025)AGC>GGC p.S675G PARD3B_uc010fub.1_Missense_Mutation_p.S675G|PARD3B_uc002vao.1_Missense_Mutation_p.S675G|PARD3B_uc002vap.1_Missense_Mutation_p.S613G|PARD3B_uc002vaq.1_Missense_Mutation_p.S675G NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 675 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TTACAGCCACAGGTATTGATA 0.423 INO80D 54891 broad.mit.edu 37 2 206874370 206874370 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:206874370G>A uc002vaz.3 - 9 2096 c.1691C>T c.(1690-1692)CCT>CTT p.P564L NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 564 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GGGGACTGCAGGTGGAATGGG 0.547 ZDBF2 57683 broad.mit.edu 37 2 207174184 207174184 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:207174184T>C uc002vbp.2 + 5 5182 c.4932T>C c.(4930-4932)GAT>GAC p.D1644D NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1644 nucleic acid binding|zinc ion binding ovary(3) 3 AAGGACCTGATGAGAAAATGG 0.368 ADAM23 8745 broad.mit.edu 37 2 207437886 207437886 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:207437886T>C uc002vbq.2 + 18 1927 c.1704T>C c.(1702-1704)GAT>GAC p.D568D ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 568 Disintegrin.|May bind the integrin receptor.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) ACGAGTGTGATATTACTGAAT 0.323 IKZF2 22807 broad.mit.edu 37 2 213872794 213872794 + Nonsense_Mutation SNP G G A rs146574423 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:213872794G>A uc002vem.2 - 8 1040 c.871C>T c.(871-873)CGA>TGA p.R291* IKZF2_uc010fuu.2_Nonsense_Mutation_p.R146*|IKZF2_uc002vej.2_Nonsense_Mutation_p.R238*|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Nonsense_Mutation_p.R217*|IKZF2_uc002vel.2_Nonsense_Mutation_p.R212*|IKZF2_uc010fuw.2_Nonsense_Mutation_p.R65*|IKZF2_uc010fux.2_Nonsense_Mutation_p.R65*|IKZF2_uc010fuy.2_Nonsense_Mutation_p.R219*|IKZF2_uc002ven.2_Nonsense_Mutation_p.R265*|IKZF2_uc002vei.2_Nonsense_Mutation_p.R69* NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TAGCTGAATCGCATGAGCTTT 0.383 TNS1 7145 broad.mit.edu 37 2 218673324 218673324 + Splice_Site SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:218673324A>T uc002vgt.2 - 31 5428 c.5030_splice c.e31+1 p.K1677_splice TNS1_uc002vgr.2_Splice_Site_p.K1663_splice|TNS1_uc002vgs.2_Splice_Site_p.K1656_splice|TNS1_uc002vgq.2_Splice_Site_p.K177_splice NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CAAGAGACTTACTTTCTTTCC 0.363 TNS1 7145 broad.mit.edu 37 2 218682650 218682650 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:218682650T>G uc002vgt.2 - 24 4491 c.4093A>C c.(4093-4095)AGC>CGC p.S1365R TNS1_uc002vgr.2_Missense_Mutation_p.S1352R|TNS1_uc002vgs.2_Missense_Mutation_p.S1344R|TNS1_uc010zjv.1_Missense_Mutation_p.S1344R NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1365 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GTGGCAGGGCTGCTCAGGCCA 0.662 TNS1 7145 broad.mit.edu 37 2 218682831 218682831 + Silent SNP G G A rs149340421 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:218682831G>A uc002vgt.2 - 24 4310 c.3912C>T c.(3910-3912)CTC>CTT p.L1304L TNS1_uc002vgr.2_Silent_p.L1291L|TNS1_uc002vgs.2_Silent_p.L1283L|TNS1_uc010zjv.1_Silent_p.L1283L NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1304 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CAGACCCTCCGAGGTGACGGC 0.657 RNF25 64320 broad.mit.edu 37 2 219528977 219528977 + Silent SNP G G A rs148126928 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:219528977G>A uc002vit.2 - 10 1171 c.1083C>T c.(1081-1083)CAC>CAT p.H361H RNF25_uc010fvw.2_Silent_p.H249H NM_022453 NP_071898 Q96BH1 RNF25_HUMAN ring finger protein 25 361 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTTAGGGGCGTGGCACTCCC 0.627 STK36 27148 broad.mit.edu 37 2 219559251 219559251 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:219559251G>A uc002viu.2 + 21 2670 c.2404G>A c.(2404-2406)GCA>ACA p.A802T STK36_uc002viv.2_Missense_Mutation_p.A802T|STK36_uc002viw.2_5'UTR|STK36_uc002vix.2_5'Flank NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 802 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) CCCACAGAGTGCAGCAGCCTG 0.512 STK36 27148 broad.mit.edu 37 2 219561249 219561249 + Splice_Site SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:219561249G>T uc002viu.2 + 22 2778 c.2512_splice c.e22-1 p.V838_splice STK36_uc002viv.2_Intron|STK36_uc002viw.2_Splice_Site_p.V17_splice|STK36_uc002vix.2_5'Flank NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 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) CTCTCTGACAGGTTCGGTTGA 0.498 CRYBA2 1412 broad.mit.edu 37 2 219856929 219856929 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:219856929C>T uc002vjj.1 - 3 233 c.198G>A c.(196-198)CAG>CAA p.Q66Q CRYBA2_uc002vjk.1_Silent_p.Q66Q NM_057094 NP_476435 P53672 CRBA2_HUMAN crystallin, beta A2 66 Beta/gamma crystallin 'Greek key' 2. structural constituent of eye lens 0 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAATGAACTGCTGTCCCTGGA 0.612 MOGAT1 116255 broad.mit.edu 37 2 223553067 223553067 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:223553067G>A uc010fws.1 + 2 147 c.99G>A c.(97-99)CCG>CCA p.P33P MOGAT1_uc010fwt.1_5'UTR NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 33 Helical; (Potential). glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1) 1 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) TTACAGGGCCGATGTCCATTG 0.423 SERPINE2 5270 broad.mit.edu 37 2 224842297 224842297 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:224842297T>C uc002vnu.2 - 8 1366 c.1123A>G c.(1123-1125)AGA>GGA p.R375G SERPINE2_uc002vnt.2_Missense_Mutation_p.R374G|SERPINE2_uc010zlr.1_Missense_Mutation_p.R386G|SERPINE2_uc002vnv.2_Missense_Mutation_p.R374G NM_006216 NP_006207 P07093 GDN_HUMAN plasminogen activator inhibitor type 1, member 2 375 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|ovary(1)|central_nervous_system(1) 4 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) AGAAAAGGTCTGTCTACTATA 0.413 CUL3 8452 broad.mit.edu 37 2 225360635 225360635 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:225360635T>C uc002vny.2 - 13 2140 c.1756A>G c.(1756-1758)AAT>GAT p.N586D CUL3_uc010zls.1_Missense_Mutation_p.N520D|CUL3_uc010fwy.1_Missense_Mutation_p.N592D|CUL3_uc002vnz.1_Missense_Mutation_p.N33D NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 586 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TTCCGTGTATTAGAGCCAGTT 0.348 TRIP12 9320 broad.mit.edu 37 2 230723776 230723776 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:230723776A>G uc002vpw.1 - 3 722 c.613T>C c.(613-615)TCG>CCG p.S205P TRIP12_uc002vpx.1_Missense_Mutation_p.S247P|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.S205P NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 205 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GCAGAAGACGAGGAGGAAGTA 0.537 SP140 11262 broad.mit.edu 37 2 231106186 231106186 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:231106186A>G uc002vql.2 + 4 589 c.474A>G c.(472-474)CTA>CTG p.L158L SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Silent_p.L158L|SP140_uc002vqn.2_Silent_p.L158L|SP140_uc002vqm.2_Silent_p.L158L|SP140_uc010fxl.2_Silent_p.L158L NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 158 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCAGATTACTACCATATGGTA 0.358 C2orf57 165100 broad.mit.edu 37 2 232458157 232458157 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:232458157G>A uc002vrz.2 + 1 546 c.495G>A c.(493-495)CAG>CAA p.Q165Q NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 165 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) TGGAGGCTCAGCCCGTCGAGA 0.602 CHRND 1144 broad.mit.edu 37 2 233392150 233392150 + Nonsense_Mutation SNP G G T rs121909504 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:233392150G>T uc002vsw.2 + 3 242 c.238G>T c.(238-240)GAG>TAG p.E80* CHRND_uc010zmg.1_Intron|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 80 Extracellular (Potential). E -> K (in FCCMS; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TGTGTGGATAGAGCACGTAAG 0.294 TRPM8 79054 broad.mit.edu 37 2 234835246 234835246 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:234835246C>T uc002vvh.2 + 2 104 c.64C>T c.(64-66)CGG>TGG p.R22W TRPM8_uc010fyj.2_5'UTR NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 22 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GGACAGCACCCGGACCCTGTA 0.512 AGAP1 116987 broad.mit.edu 37 2 237029052 237029052 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:237029052C>T uc002vvs.2 + 17 2926 c.2331C>T c.(2329-2331)TGC>TGT p.C777C AGAP1_uc002vvt.2_Silent_p.C724C NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 777 ANK 1. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 ATCTGGCCTGCCGCAAGGGGA 0.682 HDAC4 9759 broad.mit.edu 37 2 240029856 240029856 + Missense_Mutation SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:240029856G>C uc002vyk.3 - 15 2779 c.1987C>G c.(1987-1989)CTG>GTG p.L663V HDAC4_uc010fyz.1_Missense_Mutation_p.L658V|HDAC4_uc010zoa.1_Missense_Mutation_p.L663V|HDAC4_uc010fza.2_Missense_Mutation_p.L668V|HDAC4_uc010fyy.2_Missense_Mutation_p.L620V|HDAC4_uc010znz.1_Missense_Mutation_p.L546V NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 663 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TGGTGCTTCAGCATCAGCGTG 0.706 HDAC4 9759 broad.mit.edu 37 2 240048352 240048352 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:240048352C>T uc002vyk.3 - 12 2110 c.1318G>A c.(1318-1320)GCA>ACA p.A440T HDAC4_uc010fyz.1_Missense_Mutation_p.A435T|HDAC4_uc010zoa.1_Missense_Mutation_p.A440T|HDAC4_uc010fza.2_Missense_Mutation_p.A445T|HDAC4_uc010fyy.2_Missense_Mutation_p.A397T|HDAC4_uc010znz.1_Missense_Mutation_p.A323T|HDAC4_uc010fzb.1_RNA NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 440 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) AAGGACTGTGCGTGGAGGGGC 0.622 NDUFA10 4705 broad.mit.edu 37 2 240954271 240954271 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:240954271T>C uc002vyn.2 - 5 634 c.554A>G c.(553-555)GAC>GGC p.D185G NDUFA10_uc010fzc.1_Missense_Mutation_p.D225G|NDUFA10_uc002vyo.1_Missense_Mutation_p.D185G NM_004544 NP_004535 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 185 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1) 1 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) GTTGTAGTGGTCCACACCTGG 0.547 RNPEPL1 57140 broad.mit.edu 37 2 241516004 241516004 + Silent SNP G G A rs139086666 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:241516004G>A uc002vzi.2 + 9 1463 c.870G>A c.(868-870)CCG>CCA p.P290P RNPEPL1_uc010fzf.2_Silent_p.P196P|RNPEPL1_uc002vzj.2_5'UTR NM_018226 NP_060696 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 290 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) TGGCTGAGCCGGACCTGTCTC 0.682 KIF1A 547 broad.mit.edu 37 2 241683449 241683449 + Missense_Mutation SNP A A G rs35698242 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:241683449A>G uc002vzy.2 - 31 3337 c.3191T>C c.(3190-3192)ATT>ACT p.I1064T KIF1A_uc010fzk.2_Missense_Mutation_p.I1165T|KIF1A_uc002vzz.1_Missense_Mutation_p.I1165T NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1064 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GATGTACTCAATGAAGGACTT 0.597 HDLBP 3069 broad.mit.edu 37 2 242176107 242176107 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:242176107C>T uc002waz.2 - 21 3055 c.2827G>A c.(2827-2829)GGC>AGC p.G943S HDLBP_uc002wba.2_Missense_Mutation_p.G943S|HDLBP_uc002wbb.2_Missense_Mutation_p.G895S NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 943 KH 11. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) CTTGGAGAGCCGGGGTCACAA 0.547 C2orf85 285093 broad.mit.edu 37 2 242815392 242815392 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:242815392G>A uc010fzu.1 + 2 1708 c.1685G>A c.(1684-1686)CGG>CAG p.R562Q NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 562 integral to membrane ovary(1) 1 TGCATGTGTCGGCTGAACCCC 0.662 TGM3 7053 broad.mit.edu 37 20 2312896 2312896 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:2312896G>T uc002wfx.3 + 10 1679 c.1582G>T c.(1582-1584)GGC>TGC p.G528C NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 528 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) CATCTACAACGGCACGCTTGT 0.522 SIGLEC1 6614 broad.mit.edu 37 20 3672650 3672650 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:3672650C>T uc002wja.2 - 16 4230 c.4230G>A c.(4228-4230)CGG>CGA p.R1410R SIGLEC1_uc002wjb.1_Silent_p.R49R|SIGLEC1_uc002wiz.3_Silent_p.R1410R NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1410 Ig-like C2-type 14.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GCACCTGCAGCCGTAGGGCGT 0.597 FLRT3 23767 broad.mit.edu 37 20 14306292 14306292 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:14306292T>C uc002wov.1 - 3 2328 c.1861A>G c.(1861-1863)AAT>GAT p.N621D MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.N621D NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 621 Cytoplasmic (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TTGTACAGATTCATTCCATTA 0.408 KIF16B 55614 broad.mit.edu 37 20 16359766 16359766 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:16359766C>T uc002wpg.1 - 19 3039 c.2881G>A c.(2881-2883)GCC>ACC p.A961T KIF16B_uc002wpe.1_Missense_Mutation_p.A343T|KIF16B_uc002wpf.1_Missense_Mutation_p.A343T|KIF16B_uc010gch.1_Missense_Mutation_p.A961T|KIF16B_uc010gci.1_Missense_Mutation_p.A961T|KIF16B_uc010gcj.1_Missense_Mutation_p.A972T NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 961 Glu-rich.|Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TTTGCATTGGCCTGGTACTGT 0.418 CSRP2BP 57325 broad.mit.edu 37 20 18123412 18123412 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:18123412G>A uc002wqj.2 + 2 730 c.108G>A c.(106-108)ACG>ACA p.T36T CSRP2BP_uc002wqk.2_5'Flank NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 36 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 AGGGAGAGACGCTCCTGATCG 0.542 C20orf26 26074 broad.mit.edu 37 20 20180465 20180465 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:20180465C>A uc002wru.2 + 17 1927 c.1851C>A c.(1849-1851)CCC>CCA p.P617P C20orf26_uc010zse.1_Silent_p.P597P NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 617 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) ACTTGGTTCCCGTGCGACCAC 0.532 PAX1 5075 broad.mit.edu 37 20 21687475 21687475 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:21687475C>T uc002wsj.2 + 2 740 c.686C>T c.(685-687)GCG>GTG p.A229V PAX1_uc010zsl.1_Missense_Mutation_p.A229V|PAX1_uc010zsm.1_Missense_Mutation_p.A205V NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 229 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 GGCAGCCTGGCGCAGCCCGGA 0.647 NINL 22981 broad.mit.edu 37 20 25456684 25456684 + Silent SNP G G A rs144098143 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:25456684G>A uc002wux.1 - 17 3317 c.3243C>T c.(3241-3243)AAC>AAT p.N1081N NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1081 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CAAACCTGTCGTTCTCTCTCA 0.443 DNMT3B 1789 broad.mit.edu 37 20 31387087 31387087 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:31387087G>A uc002wyc.2 + 16 2033 c.1712G>A c.(1711-1713)CGA>CAA p.R571Q DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R551Q|DNMT3B_uc002wye.2_Missense_Mutation_p.R551Q|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R509Q|DNMT3B_uc010zua.1_Missense_Mutation_p.R475Q|DNMT3B_uc002wyf.2_Missense_Mutation_p.R563Q|DNMT3B_uc002wyg.2_Missense_Mutation_p.R270Q|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 571 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 CCCGCAGCCCGAAGGCGGCCC 0.587 MAPRE1 22919 broad.mit.edu 37 20 31427577 31427577 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:31427577C>T uc002wyh.2 + 5 651 c.512C>T c.(511-513)GCG>GTG p.A171V NM_012325 NP_036457 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, 171 Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding 0 AGAACCGCTGCGGCTCCTAAG 0.552 AHCY 191 broad.mit.edu 37 20 32878616 32878616 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:32878616G>A uc002xai.2 - 6 826 c.687C>T c.(685-687)GCC>GCT p.A229A AHCY_uc002xaj.2_Silent_p.A201A NM_000687 NP_000678 P23526 SAHH_HUMAN adenosylhomocysteinase isoform 1 229 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding 0 GCAGGGCCTGGGCACAGCCCT 0.612 GGT7 2686 broad.mit.edu 37 20 33451198 33451198 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:33451198G>A uc002xay.2 - 2 366 c.323C>T c.(322-324)ACG>ATG p.T108M GGT7_uc002xaz.1_Missense_Mutation_p.T125M|GGT7_uc002xba.1_Missense_Mutation_p.T108M NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 108 Helical; Signal-anchor for type II membrane protein; (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 GACGATGACCGTGAGCCCATC 0.667 GSS 2937 broad.mit.edu 37 20 33530761 33530761 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:33530761C>T uc002xbg.2 - 4 404 c.324G>A c.(322-324)AAG>AAA p.K108K GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Intron|GSS_uc010zup.1_Silent_p.K39K|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 108 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TTAGGACTTGCTTGTGGATGT 0.453 SLC32A1 140679 broad.mit.edu 37 20 37356949 37356949 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:37356949C>T uc002xjc.2 + 2 1508 c.1245C>T c.(1243-1245)CGC>CGT p.R415R NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 415 Lumenal, vesicle (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) AAGGCAGCCGCGCCTTTTTCC 0.622 DHX35 60625 broad.mit.edu 37 20 37652340 37652340 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:37652340T>C uc002xjh.2 + 17 1612 c.1601T>C c.(1600-1602)GTG>GCG p.V534A DHX35_uc010zwa.1_Missense_Mutation_p.V379A|DHX35_uc010zwb.1_Missense_Mutation_p.V379A|DHX35_uc010zwc.1_Missense_Mutation_p.V503A NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 534 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CAGATTCGAGTGCACCGTAAA 0.313 PTPRT 11122 broad.mit.edu 37 20 40911166 40911166 + Splice_Site SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:40911166C>T uc002xkg.2 - 13 2324 c.2140_splice c.e13-1 p.E714_splice PTPRT_uc010ggj.2_Splice_Site_p.E714_splice NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTTTGGTCTCCTGTGAACAAC 0.323 IFT52 51098 broad.mit.edu 37 20 42252676 42252676 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:42252676G>T uc002xkw.2 + 10 1036 c.914G>T c.(913-915)AGC>ATC p.S305I IFT52_uc002xky.2_Missense_Mutation_p.S305I|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.S281I|IFT52_uc002xkz.2_Missense_Mutation_p.S305I NM_016004 NP_057088 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog 305 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding ovary(2) 2 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCCTTCCACAGCGTCATCGAG 0.532 SERINC3 10955 broad.mit.edu 37 20 43141554 43141554 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:43141554A>G uc002xme.2 - 3 417 c.283T>C c.(283-285)TAT>CAT p.Y95H SERINC3_uc002xmf.1_Missense_Mutation_p.Y95H|SERINC3_uc010ggs.1_Missense_Mutation_p.Y88H|SERINC3_uc010zwp.1_Missense_Mutation_p.Y40H NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 95 Extracellular (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) ACAGCTTTATAACCAACCAGC 0.388 KCNS1 3787 broad.mit.edu 37 20 43727239 43727239 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:43727239G>A uc002xnc.2 - 4 571 c.174C>T c.(172-174)GGC>GGT p.G58G KCNS1_uc002xnd.2_Silent_p.G58G NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 58 Cytoplasmic (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) GCCGCCGCACGCCACCCACGT 0.761 ZSWIM3 140831 broad.mit.edu 37 20 44505669 44505669 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:44505669T>C uc002xqd.2 + 2 675 c.472T>C c.(472-474)TCC>CCC p.S158P ZSWIM3_uc010zxg.1_Missense_Mutation_p.S152P NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 158 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) GGTACAAGTGTCCTCAAAGCC 0.498 CD40 958 broad.mit.edu 37 20 44747031 44747031 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:44747031G>A uc002xrg.1 + 1 126 c.49G>A c.(49-51)GCT>ACT p.A17T CD40_uc002xrf.1_Missense_Mutation_p.A17T|CD40_uc002xrh.1_Missense_Mutation_p.A17T|CD40_uc002xri.1_Missense_Mutation_p.A17T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA NM_001250 NP_001241 P25942 TNR5_HUMAN CD40 antigen isoform 1 precursor 17 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity lung(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) CTTGCTGACCGCTGTGAGTTG 0.612 Immune_Deficiency_with_Hyper-IgM CDH22 64405 broad.mit.edu 37 20 44839105 44839105 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:44839105C>T uc002xrm.2 - 6 1528 c.1127G>A c.(1126-1128)CGC>CAC p.R376H CDH22_uc010ghk.1_Missense_Mutation_p.R376H|CDH22_uc002xrn.1_Missense_Mutation_p.R127H NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 376 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CGCCTGGTCGCGGAACGTGCC 0.711 ZNF334 55713 broad.mit.edu 37 20 45130215 45130215 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:45130215A>G uc002xsc.2 - 5 1947 c.1763T>C c.(1762-1764)GTT>GCT p.V588A ZNF334_uc002xsa.2_Missense_Mutation_p.V611A|ZNF334_uc002xsb.2_Missense_Mutation_p.V550A|ZNF334_uc002xsd.2_Missense_Mutation_p.V550A|ZNF334_uc010ghl.2_Missense_Mutation_p.V587A NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 588 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) CTGATGTTCAACAAAGGAGAA 0.443 NCOA3 8202 broad.mit.edu 37 20 46265284 46265284 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:46265284C>T uc002xtk.2 + 12 2359 c.2154C>T c.(2152-2154)GAC>GAT p.D718D NCOA3_uc010ght.1_Silent_p.D728D|NCOA3_uc002xtl.2_Silent_p.D718D|NCOA3_uc002xtm.2_Silent_p.D718D|NCOA3_uc002xtn.2_Silent_p.D718D|NCOA3_uc010zyc.1_Silent_p.D513D NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 718 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 CTTGTGGGGACGGAAATGTTG 0.473 SPATA2 9825 broad.mit.edu 37 20 48522877 48522877 + Missense_Mutation SNP G G A rs140549434 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:48522877G>A uc010gie.2 - 3 1192 c.842C>T c.(841-843)ACG>ATG p.T281M SPATA2_uc002xuw.2_Missense_Mutation_p.T281M|SPATA2_uc010zyn.1_Missense_Mutation_p.T144M NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 281 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CCCCACATCCGTTGCCACAGG 0.627 ADNP 23394 broad.mit.edu 37 20 49510674 49510674 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:49510674C>A uc002xvt.1 - 5 922 c.577G>T c.(577-579)GCA>TCA p.A193S ADNP_uc002xvu.1_Missense_Mutation_p.A193S NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 193 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TAAGGTGCTGCCACATGCTGA 0.443 ADNP 23394 broad.mit.edu 37 20 49510754 49510754 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:49510754T>C uc002xvt.1 - 5 842 c.497A>G c.(496-498)TAC>TGC p.Y166C ADNP_uc002xvu.1_Missense_Mutation_p.Y166C NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 166 C2H2-type 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 CTTCTTACAGTAATAAACAGC 0.423 ZFP64 55734 broad.mit.edu 37 20 50705027 50705027 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:50705027G>A uc002xwk.2 - 8 1481 c.1132C>T c.(1132-1134)CGG>TGG p.R378W ZFP64_uc002xwj.2_Missense_Mutation_p.R159W NM_199427 NP_955459 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform d 335 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GAGTGGATCCGCAGGTGCTTC 0.602 ZFP64 55734 broad.mit.edu 37 20 50769628 50769628 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:50769628T>C uc002xwl.2 - 6 1452 c.1103A>G c.(1102-1104)GAC>GGC p.D368G ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.D366G|ZFP64_uc002xwn.2_Missense_Mutation_p.D314G NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GAAAGGGCGGTCGGTGCAGTG 0.577 TSHZ2 128553 broad.mit.edu 37 20 51872037 51872037 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:51872037C>T uc002xwo.2 + 2 2996 c.2040C>T c.(2038-2040)TGC>TGT p.C680C NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 680 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GCAATGGGTGCGCCCTCGCCA 0.632 BCAS1 8537 broad.mit.edu 37 20 52645436 52645436 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:52645436G>A uc002xws.2 - 4 556 c.218C>T c.(217-219)GCG>GTG p.A73V BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Missense_Mutation_p.A73V|BCAS1_uc010gil.1_Missense_Mutation_p.A73V|BCAS1_uc010zzc.1_5'UTR NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 73 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GTTGGCATCCGCAACAGCACT 0.493 TUBB1 81027 broad.mit.edu 37 20 57597917 57597917 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:57597917T>C uc002yak.2 + 2 344 c.75T>C c.(73-75)GGT>GGC p.G25G NM_030773 NP_110400 Q9H4B7 TBB1_HUMAN beta tubulin 1, class VI 25 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity ovary(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) AGATGATTGGTGAGGAACACG 0.552 ZNF831 128611 broad.mit.edu 37 20 57769627 57769627 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:57769627T>C uc002yan.2 + 1 3553 c.3553T>C c.(3553-3555)TGG>CGG p.W1185R NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1185 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GCGGCTCACGTGGTGTTGCCT 0.637 PPP1R3D 5509 broad.mit.edu 37 20 58514148 58514148 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:58514148C>T uc002ybb.2 - 1 1205 c.839G>A c.(838-840)CGC>CAC p.R280H C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 280 glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) CGCGTGGTTGCGACATGTGAG 0.652 CDH4 1002 broad.mit.edu 37 20 60498546 60498546 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:60498546C>T uc002ybn.1 + 10 1426 c.1412C>T c.(1411-1413)ACA>ATA p.T471I CDH4_uc002ybp.1_Missense_Mutation_p.T397I NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 471 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) TTCATGCTGACAGTGATGGTG 0.602 CDH4 1002 broad.mit.edu 37 20 60509183 60509183 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:60509183C>T uc002ybn.1 + 15 2463 c.2449C>T c.(2449-2451)CGT>TGT p.R817C CDH4_uc002ybp.1_Missense_Mutation_p.R743C NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 817 Cytoplasmic (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCCTGGCGTGCGTCGCGTGGA 0.682 LAMA5 3911 broad.mit.edu 37 20 60887787 60887787 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:60887787A>G uc002ycq.2 - 67 9195 c.9128T>C c.(9127-9129)GTG>GCG p.V3043A NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 3043 Laminin G-like 2. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCCGCTCCACACGCACCAG 0.701 COL20A1 57642 broad.mit.edu 37 20 61943318 61943318 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:61943318G>T uc011aau.1 + 14 1814 c.1714G>T c.(1714-1716)GCG>TCG p.A572S COL20A1_uc011aav.1_Missense_Mutation_p.A393S NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 572 Fibronectin type-III 4. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) GAGCCACGACGCGGCACGAGT 0.677 ZNF512B 57473 broad.mit.edu 37 20 62598853 62598853 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:62598853G>A uc002yhl.1 - 3 199 c.145C>T c.(145-147)CAG>TAG p.Q49* NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGCACTGTCTGTCCACCACGG 0.627 OPRL1 4987 broad.mit.edu 37 20 62729410 62729410 + Silent SNP G G A rs141501506 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:62729410G>A uc002yic.2 + 4 891 c.489G>A c.(487-489)ACG>ACA p.T163T OPRL1_uc002yid.2_Silent_p.T163T|OPRL1_uc002yif.3_Silent_p.T158T NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 163 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) ACGTCCGCACGTCCAGCAAAG 0.587 NPBWR2 2832 broad.mit.edu 37 20 62738003 62738003 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:62738003G>A uc011abt.1 - 1 182 c.182C>T c.(181-183)ACT>ATT p.T61I NM_005286 NP_005277 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 61 Helical; Name=1; (Potential). plasma membrane opioid receptor activity|protein binding large_intestine(1) 1 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CGTGTTGCCAGTCAGCCCCAC 0.607 MYT1 4661 broad.mit.edu 37 20 62839761 62839761 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:62839761G>A uc002yii.2 + 7 1576 c.1212G>A c.(1210-1212)GAG>GAA p.E404E MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Silent_p.E36E NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 404 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CGCCTGCCGAGCAGAGCCAGC 0.652 MYT1 4661 broad.mit.edu 37 20 62871118 62871118 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:62871118C>A uc002yii.2 + 22 3463 c.3099C>A c.(3097-3099)TCC>TCA p.S1033S MYT1_uc002yij.2_Silent_p.S692S|MYT1_uc002yik.2_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 1033 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CACAGATCTCCTCCATGGAGA 0.587 TPTE 7179 broad.mit.edu 37 21 10969127 10969127 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:10969127G>T uc002yip.1 - 7 489 c.121C>A c.(121-123)CCA>ACA p.P41T TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 41 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) CTTGTGTGTGGGCTAGAGGAT 0.269 NCAM2 4685 broad.mit.edu 37 21 22664426 22664426 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:22664426C>A uc002yld.1 + 5 733 c.484C>A c.(484-486)CGG>AGG p.R162R NCAM2_uc011acb.1_Silent_p.R20R|NCAM2_uc011acc.1_Silent_p.R187R NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 162 Ig-like C2-type 2.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CTTTCCAGATCGGTTCGCTAT 0.403 APP 351 broad.mit.edu 37 21 27394347 27394347 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:27394347A>G uc002ylz.2 - 6 874 c.674T>C c.(673-675)GTA>GCA p.V225A APP_uc010glk.2_Missense_Mutation_p.V220A|APP_uc002yma.2_Missense_Mutation_p.V225A|APP_uc011ach.1_Missense_Mutation_p.V169A|APP_uc002ymb.2_Missense_Mutation_p.V225A|APP_uc010glj.2_Missense_Mutation_p.V169A|APP_uc011aci.1_Missense_Mutation_p.V190A|APP_uc011acj.1_Missense_Mutation_p.V225A NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 225 Extracellular (Potential). adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) tacttctactactttgtcttc 0.154 CLDN17 26285 broad.mit.edu 37 21 31538742 31538742 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:31538742T>C uc011acv.1 - 1 194 c.194A>G c.(193-195)AAG>AGG p.K65R NM_012131 NP_036263 P56750 CLD17_HUMAN claudin 17 65 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity ovary(2) 2 GCTATAGAACTTGCATTGCAA 0.542 KRTAP13-2 337959 broad.mit.edu 37 21 31744414 31744414 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:31744414G>T uc002ynz.3 - 1 144 c.118C>A c.(118-120)CTC>ATC p.L40I NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 40 intermediate filament 0 GGAGAGCAGAGGTCAGTGCTG 0.592 SYNJ1 8867 broad.mit.edu 37 21 34003306 34003306 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:34003306T>C uc002yqh.2 - 32 4838 c.4838A>G c.(4837-4839)TAA>TGA p.*1613* SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.*1527*|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Silent_p.*199* NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1613 inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 TGCATGGCGTTATCTTTCTGT 0.478 SYNJ1 8867 broad.mit.edu 37 21 34045776 34045776 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:34045776G>A uc002yqh.2 - 14 1717 c.1717C>T c.(1717-1719)CGA>TGA p.R573* SYNJ1_uc011ads.1_Nonsense_Mutation_p.R529*|SYNJ1_uc002yqf.2_Nonsense_Mutation_p.R534*|SYNJ1_uc002yqg.2_Nonsense_Mutation_p.R529*|SYNJ1_uc002yqi.2_Nonsense_Mutation_p.R573* NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 534 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 ACACATACTCGAATTTTCTTA 0.388 PRDM15 63977 broad.mit.edu 37 21 43248570 43248570 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:43248570A>G uc002yzq.1 - 19 2695 c.2584T>C c.(2584-2586)TTC>CTC p.F862L PRDM15_uc002yzo.2_Missense_Mutation_p.F533L|PRDM15_uc002yzp.2_Missense_Mutation_p.F553L|PRDM15_uc002yzr.1_Missense_Mutation_p.F553L NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 862 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTGCGGTAGAACATCTTGCTG 0.602 CBS 875 broad.mit.edu 37 21 44486452 44486452 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:44486452C>T uc002zcu.2 - 5 597 c.352G>A c.(352-354)GTG>ATG p.V118M CBS_uc002zcs.1_Missense_Mutation_p.V13M|CBS_uc002zct.2_Missense_Mutation_p.V118M|CBS_uc002zcw.3_Missense_Mutation_p.V118M|CBS_uc002zcv.2_Missense_Mutation_p.V118M NM_000071 NP_000062 P35520 CBS_HUMAN cystathionine-beta-synthase 118 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding 0 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) CGGTCCTTCACGCTCCCGCCC 0.627 PDXK 8566 broad.mit.edu 37 21 45163612 45163612 + Silent SNP G G A rs144786200 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:45163612G>A uc002zdm.3 + 4 453 c.255G>A c.(253-255)ACG>ACA p.T85T PDXK_uc010gpj.2_Silent_p.T85T|PDXK_uc002zdn.3_Intron|PDXK_uc002zdq.3_Silent_p.T12T NM_003681 NP_003672 O00764 PDXK_HUMAN pyridoxal kinase 85 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding 0 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) AAGGTTATACGAGGGACAAGT 0.572 AGPAT3 56894 broad.mit.edu 37 21 45401009 45401009 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:45401009G>A uc002zdv.2 + 9 1205 c.983G>A c.(982-984)GGC>GAC p.G328D AGPAT3_uc002zdw.2_Missense_Mutation_p.G328D|AGPAT3_uc002zdx.2_Missense_Mutation_p.G415D|AGPAT3_uc002zdy.2_Missense_Mutation_p.G266D NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 328 Helical; (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TTTGTCTTGGGCGTCTTTGCC 0.582 C21orf29 54084 broad.mit.edu 37 21 45941887 45941887 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:45941887A>G uc002zfe.1 - 9 1511 c.1445T>C c.(1444-1446)TTC>TCC p.F482S C21orf29_uc010gpv.1_Missense_Mutation_p.F414S NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 482 EAR 4. cell adhesion extracellular region structural molecule activity 0 CCCCACACTGAAGAACTCCCA 0.607 MCM3AP 8888 broad.mit.edu 37 21 47695152 47695152 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:47695152C>T uc002zir.1 - 6 1982 c.1946G>A c.(1945-1947)CGG>CAG p.R649Q NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 649 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) ACGGGTCTCCCGCATGTACCT 0.592 CECR2 27443 broad.mit.edu 37 22 18022149 18022149 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:18022149G>A uc010gqw.1 + 15 2377 c.2251G>A c.(2251-2253)GTC>ATC p.V751I CECR2_uc010gqv.1_Missense_Mutation_p.V610I|CECR2_uc002zml.2_Missense_Mutation_p.V610I NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 793 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) ACACTCTGCCGTCTGGAATGG 0.587 MICAL3 57553 broad.mit.edu 37 22 18347700 18347700 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:18347700G>A uc002zng.3 - 19 2923 c.2570C>T c.(2569-2571)GCC>GTC p.A857V MICAL3_uc011agl.1_Missense_Mutation_p.A857V|MICAL3_uc002znh.2_Missense_Mutation_p.A857V|MICAL3_uc002znj.1_Missense_Mutation_p.A585V|MICAL3_uc002znk.1_Missense_Mutation_p.A857V|MICAL3_uc002znl.1_Missense_Mutation_p.A490V|MICAL3_uc002znm.2_Missense_Mutation_p.A358V|MICAL3_uc010grf.2_Missense_Mutation_p.A981V NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 857 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CACGGCGTTGGCCCGTCCGTT 0.587 TUBA8 51807 broad.mit.edu 37 22 18604328 18604328 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:18604328G>A uc002znv.1 + 2 159 c.86G>A c.(85-87)GGC>GAC p.G29D TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Missense_Mutation_p.G53D|TUBA8_uc002znu.1_Missense_Mutation_p.G29D NM_018943 NP_061816 Q9NY65 TBA8_HUMAN tubulin, alpha 8 29 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 CTGGAACACGGCATCCAGGCA 0.552 CLTCL1 8218 broad.mit.edu 37 22 19197931 19197931 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:19197931C>T uc002zpb.2 - 20 3229 c.3154G>A c.(3154-3156)GCA>ACA p.A1052T CLTCL1_uc011agv.1_Missense_Mutation_p.A1052T|CLTCL1_uc011agw.1_Missense_Mutation_p.A1052T|CLTCL1_uc011agt.1_5'Flank|CLTCL1_uc011agu.1_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpe.2_Missense_Mutation_p.A12T|CLTCL1_uc002zpd.1_Missense_Mutation_p.A12T NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1052 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) ATGTCCAGTGCGTCATAGTTG 0.537 T ? ALCL PI4KA 5297 broad.mit.edu 37 22 21064220 21064220 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:21064220C>T uc002zsz.3 - 53 6206 c.5975G>A c.(5974-5976)CGC>CAC p.R1992H PI4KA_uc010gsp.2_Missense_Mutation_p.R383H|PI4KA_uc002zsy.3_Missense_Mutation_p.R802H NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1992 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TGTCTGGCCGCGAAAACAGGG 0.592 LZTR1 8216 broad.mit.edu 37 22 21342386 21342386 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:21342386C>T uc002zto.2 + 5 591 c.488C>T c.(487-489)ACG>ATG p.T163M LZTR1_uc002ztn.2_Missense_Mutation_p.T122M|LZTR1_uc011ahy.1_Missense_Mutation_p.T144M|LZTR1_uc010gsr.1_Missense_Mutation_p.T34M NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 163 Kelch 2. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GGCCAGTGGACGGAGTGGAAA 0.473 CCDC116 164592 broad.mit.edu 37 22 21989291 21989291 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:21989291G>A uc002zve.2 + 4 1032 c.939G>A c.(937-939)CTG>CTA p.L313L CCDC116_uc011aih.1_Silent_p.L313L NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 313 ovary(1)|skin(1) 2 Colorectal(54;0.105) TCCCTGCCCTGCAAAGCGTGG 0.662 PPIL2 23759 broad.mit.edu 37 22 22025326 22025326 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:22025326G>A uc010gtj.1 + 4 285 c.169G>A c.(169-171)GAT>AAT p.D57N PPIL2_uc002zvh.3_Missense_Mutation_p.D57N|PPIL2_uc002zvi.3_Missense_Mutation_p.D57N|PPIL2_uc002zvg.3_Missense_Mutation_p.D57N|PPIL2_uc011aij.1_Intron NM_148175 NP_680480 Q13356 PPIL2_HUMAN peptidylprolyl isomerase-like 2 isoform a 57 U-box. blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity ovary(2) 2 Colorectal(54;0.105) CTGCACTCCCGATGGCATCGT 0.493 SUSD2 56241 broad.mit.edu 37 22 24579170 24579170 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:24579170C>T uc002zzn.1 + 2 266 c.222C>T c.(220-222)GGC>GGT p.G74G NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 74 Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CCATGATGGGCGGCAAGGACT 0.622 C22orf36 388886 broad.mit.edu 37 22 24981946 24981946 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:24981946C>A uc003aaq.2 - 4 885 c.856G>T c.(856-858)GGC>TGC p.G286C GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_RNA|C22orf36_uc003aap.2_RNA NM_207644 NP_997527 Q2VPJ9 LRC6X_HUMAN hypothetical protein LOC388886 286 0 GCCGCACTGCCCTCAGGCTCA 0.731 PIWIL3 440822 broad.mit.edu 37 22 25150758 25150758 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:25150758G>A uc003abd.1 - 7 1183 c.766C>T c.(766-768)CGT>TGT p.R256C PIWIL3_uc011ajx.1_Missense_Mutation_p.R147C|PIWIL3_uc011ajy.1_Missense_Mutation_p.R147C|PIWIL3_uc010gut.1_Missense_Mutation_p.R256C NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 256 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 AACCCATGACGGTATAACTGA 0.338 MYO18B 84700 broad.mit.edu 37 22 26423476 26423476 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:26423476C>T uc003abz.1 + 43 7786 c.7536C>T c.(7534-7536)TCC>TCT p.S2512S MYO18B_uc003aca.1_Silent_p.S2393S|MYO18B_uc010guy.1_Silent_p.S2394S|MYO18B_uc010guz.1_Silent_p.S2392S|MYO18B_uc011aka.1_Silent_p.S1666S|MYO18B_uc011akb.1_Silent_p.S2025S|MYO18B_uc010gva.1_Silent_p.S495S|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2512 Poly-Ser. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CCTCATCCTCCGGCTCCATCG 0.582 KREMEN1 83999 broad.mit.edu 37 22 29490351 29490351 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:29490351A>G uc011akm.1 + 2 216 c.203A>G c.(202-204)TAC>TGC p.Y68C KREMEN1_uc003ael.2_Missense_Mutation_p.Y68C|KREMEN1_uc011akn.1_Translation_Start_Site NM_032045 NP_114434 Q96MU8 KREM1_HUMAN kringle-containing transmembrane protein 1 66 Extracellular (Potential).|Kringle. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding ovary(3)|lung(2) 5 CAGCATCCATACAACACTCTG 0.483 THOC5 8563 broad.mit.edu 37 22 29913074 29913074 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:29913074G>A uc003afr.2 - 18 1960 c.1625C>T c.(1624-1626)GCG>GTG p.A542V THOC5_uc003afq.2_Missense_Mutation_p.A203V|THOC5_uc003afs.2_Missense_Mutation_p.A542V|THOC5_uc003aft.2_Missense_Mutation_p.A542V|THOC5_uc003afu.2_Missense_Mutation_p.A542V|THOC5_uc010gvo.2_Missense_Mutation_p.A286V NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 542 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 AGCCAGTCCCGCATCCACAAT 0.537 MTMR3 8897 broad.mit.edu 37 22 30412615 30412615 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:30412615T>C uc003agv.3 + 15 1930 c.1602T>C c.(1600-1602)TGT>TGC p.C534C MTMR3_uc003agu.3_Silent_p.C534C|MTMR3_uc003agw.3_Silent_p.C534C NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 534 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) AACGGACATGTTCCGTGTGGT 0.493 LIF 3976 broad.mit.edu 37 22 30640888 30640888 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:30640888T>C uc003agz.2 - 2 166 c.54A>G c.(52-54)AAA>AAG p.K18K LIF_uc011aks.1_Intron|uc003aha.2_5'Flank NM_002309 NP_002300 P15018 LIF_HUMAN leukemia inhibitory factor (cholinergic 18 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding 0 Epithelial(10;0.171) CCGCCCCATGTTTCCAGTGCA 0.592 DUSP18 150290 broad.mit.edu 37 22 31059826 31059826 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:31059826C>A uc003aiu.2 - 2 666 c.165G>T c.(163-165)GAG>GAT p.E55D SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Missense_Mutation_p.E55D NM_152511 NP_689724 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 55 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 TGTTCACTACCTCCACTGAGA 0.483 CARD10 29775 broad.mit.edu 37 22 37914037 37914037 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:37914037G>T uc003asx.1 - 2 317 c.314C>A c.(313-315)CCC>CAC p.P105H CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Missense_Mutation_p.P105H NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN caspase recruitment domain protein 10 105 CARD. activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1) 6 Melanoma(58;0.0574) GAAGTGTTCGGGGTAGTAGAA 0.627 SOX10 6663 broad.mit.edu 37 22 38369825 38369825 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:38369825T>C uc003aun.1 - 4 1356 c.1078A>G c.(1078-1080)ACC>GCC p.T360A POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.T360A NM_006941 NP_008872 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 360 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity 0 Melanoma(58;0.045) GGCCCCGCGGTCTCTGTCTTC 0.662 TMEM184B 25829 broad.mit.edu 37 22 38621482 38621482 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:38621482C>T uc003avf.1 - 7 960 c.736G>A c.(736-738)GTC>ATC p.V246I TMEM184B_uc003avg.1_Missense_Mutation_p.V246I|TMEM184B_uc003avh.1_Missense_Mutation_p.V180I|TMEM184B_uc010gxl.1_RNA NM_012264 NP_036396 Q9Y519 T184B_HUMAN transmembrane protein 184B 246 integral to membrane 0 Melanoma(58;0.045) AACTTGAGGACGGGGCTGTAG 0.592 CBX6 23466 broad.mit.edu 37 22 39262317 39262317 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:39262317G>A uc003awl.2 - 5 1199 c.1136C>T c.(1135-1137)ACG>ATG p.T379M NM_014292 NP_055107 O95503 CBX6_HUMAN chromobox homolog 6 379 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex 0 Melanoma(58;0.04) GATTGTGACCGTCAGGAGGTT 0.652 TAB1 10454 broad.mit.edu 37 22 39772162 39772162 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:39772162G>A uc003axr.2 + 2 2003 c.221G>A c.(220-222)CGG>CAG p.R74Q SYNGR1_uc003axo.3_Missense_Mutation_p.R148Q|SYNGR1_uc003axp.3_Silent_p.P114P|SYNGR1_uc003axq.3_Missense_Mutation_p.R148Q|SYNGR1_uc003axs.3_Missense_Mutation_p.R149Q NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 Error:Variant_position_missing_in_Q15750_after_alignment activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB 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|endosome membrane catalytic activity|protein binding breast(1) 1 GACGCAGCCCGGGCCGCCATC 0.622 CACNA1I 8911 broad.mit.edu 37 22 40064344 40064344 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:40064344C>T uc003ayc.2 + 24 4152 c.4152C>T c.(4150-4152)AAC>AAT p.N1384N CACNA1I_uc003ayd.2_Silent_p.N1349N|CACNA1I_uc003aye.2_Silent_p.N1299N|CACNA1I_uc003ayf.2_Silent_p.N1264N NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1384 Extracellular (Potential).|III. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GTTGGGTGAACATCATGTACA 0.572 EP300 2033 broad.mit.edu 37 22 41574817 41574817 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:41574817G>A uc003azl.3 + 31 7497 c.7102G>A c.(7102-7104)GAC>AAC p.D2368N NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 2368 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TGCCAGCCCGGACCAGAATTC 0.567 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome PPARA 5465 broad.mit.edu 37 22 46611162 46611162 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:46611162G>A uc003bgw.1 + 5 567 c.301G>A c.(301-303)GAA>AAA p.E101K PPARA_uc003bgx.1_Missense_Mutation_p.E101K|PPARA_uc010hab.1_Missense_Mutation_p.E101K|PPARA_uc003bha.2_Missense_Mutation_p.E101K|PPARA_uc003bhb.1_Missense_Mutation_p.E101K|PPARA_uc010hac.1_5'UTR NM_005036 NP_005027 Q07869 PPARA_HUMAN peroxisome proliferative activated receptor, 101 Nuclear receptor. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) ATTGAACATCGAATGTAGAAT 0.597 CELSR1 9620 broad.mit.edu 37 22 46780469 46780469 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:46780469G>A uc003bhw.1 - 20 6854 c.6854C>T c.(6853-6855)GCC>GTC p.A2285V CELSR1_uc011arc.1_Missense_Mutation_p.A606V NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2285 Extracellular (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GAAGAAGTCGGCTGGGAAGGA 0.582 SELO 83642 broad.mit.edu 37 22 50647139 50647139 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:50647139C>T uc011arr.1 + 3 991 c.933C>T c.(931-933)TTC>TTT p.F311F SELO_uc010hap.2_Silent_p.F122F|SELO_uc003bjy.2_5'UTR|SELO_uc003bjz.2_5'Flank NM_031454 NP_113642 Q9BVL4 SELO_HUMAN selenoprotein O 311 0 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CTGCCTTCTTCCGGGAGGTCA 0.607 TUBGCP6 85378 broad.mit.edu 37 22 50682331 50682331 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:50682331T>C uc003bkb.1 - 1 1070 c.558A>G c.(556-558)CCA>CCG p.P186P TUBGCP6_uc010har.1_Silent_p.P186P|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.P186P NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 186 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGCCAGTGCCTGGAGCAGCCT 0.557 PLXNB2 23654 broad.mit.edu 37 22 50720088 50720088 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:50720088C>A uc003bkv.3 - 21 3535 c.3429G>T c.(3427-3429)ACG>ACT p.T1143T PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.T128T NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1143 Extracellular (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTCGGTCTCCGTCAGCGTCT 0.657 SAPS2 9701 broad.mit.edu 37 22 50869710 50869710 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:50869710G>A uc003blb.1 + 12 1656 c.1234G>A c.(1234-1236)GGA>AGA p.G412R SAPS2_uc003bky.1_Missense_Mutation_p.G412R|SAPS2_uc003bkz.1_Missense_Mutation_p.G412R|SAPS2_uc003blc.2_Missense_Mutation_p.G412R|SAPS2_uc003bla.1_Missense_Mutation_p.G413R|SAPS2_uc003bld.1_5'UTR NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 412 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) AGAAGCCAGCGGATCCGAGAG 0.582 KLHDC7B 113730 broad.mit.edu 37 22 50987578 50987578 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:50987578G>A uc003bmi.2 + 1 1117 c.983G>A c.(982-984)CGG>CAG p.R328Q NM_138433 NP_612442 Q96G42 KLD7B_HUMAN kelch domain containing 7B 328 Kelch 1. central_nervous_system(1) 1 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TTCAACCCCCGGGAGAACACC 0.716 KLHDC7B 113730 broad.mit.edu 37 22 50987635 50987635 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:50987635G>A uc003bmi.2 + 1 1174 c.1040G>A c.(1039-1041)TGC>TAC p.C347Y NM_138433 NP_612442 Q96G42 KLD7B_HUMAN kelch domain containing 7B 347 Kelch 1. central_nervous_system(1) 1 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTTCGGGGCTGCGGTCTCTGC 0.662 ATP2B2 491 broad.mit.edu 37 3 10452437 10452437 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:10452437G>A uc003bvt.2 - 3 701 c.262C>T c.(262-264)CCT>TCT p.P88S ATP2B2_uc003bvv.2_Missense_Mutation_p.P88S|ATP2B2_uc003bvw.2_Missense_Mutation_p.P88S|ATP2B2_uc010hdp.2_Missense_Mutation_p.P88S|ATP2B2_uc010hdo.2_5'UTR NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 88 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TTCTTTGGAGGTATAAAGTTT 0.557 TBC1D5 9779 broad.mit.edu 37 3 17208262 17208262 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:17208262T>C uc003cbf.2 - 21 3756 c.2091A>G c.(2089-2091)AAA>AAG p.K697K TBC1D5_uc010heu.2_Silent_p.K284K|TBC1D5_uc010hev.2_Silent_p.K719K|TBC1D5_uc003cbe.2_Silent_p.K697K NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 697 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 TCTGTACCTGTTTAATGGCCC 0.483 EFHB 151651 broad.mit.edu 37 3 19974823 19974823 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:19974823T>G uc003cbl.3 - 1 884 c.688A>C c.(688-690)AGA>CGA p.R230R EFHB_uc003cbm.2_Silent_p.R100R NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 230 signal transduction proteinaceous extracellular matrix calcium ion binding 0 GCCTCCTTTCTCTGTTCATGT 0.507 THRB 7068 broad.mit.edu 37 3 24185077 24185077 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:24185077T>C uc003ccx.3 - 8 1002 c.653A>G c.(652-654)GAA>GGA p.E218G THRB_uc010hfe.2_Missense_Mutation_p.E218G|THRB_uc003ccy.3_Missense_Mutation_p.E218G|THRB_uc003ccz.3_Missense_Mutation_p.E213G NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta 218 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) GAGCTCCCATTCCTCGTCTGT 0.567 TRANK1 9881 broad.mit.edu 37 3 36873314 36873314 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:36873314C>T uc003cgj.2 - 12 6280 c.5978G>A c.(5977-5979)CGC>CAC p.R1993H NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2543 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CCGGAAGTGGCGATACAGGAG 0.592 TRANK1 9881 broad.mit.edu 37 3 36875321 36875321 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:36875321T>A uc003cgj.2 - 12 4273 c.3971A>T c.(3970-3972)TAT>TTT p.Y1324F NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1874 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TGCACTCAGATACTTTGCTGC 0.433 DLEC1 9940 broad.mit.edu 37 3 38139378 38139378 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:38139378G>T uc003cho.1 + 18 2730 c.2709G>T c.(2707-2709)CAG>CAT p.Q903H DLEC1_uc003chp.1_Missense_Mutation_p.Q903H|DLEC1_uc010hgv.1_Missense_Mutation_p.Q903H|DLEC1_uc003chr.1_Missense_Mutation_p.Q9H|DLEC1_uc010hgx.1_RNA NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 903 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TCTCCCTCCAGGAAAGGCCTG 0.587 OXSR1 9943 broad.mit.edu 37 3 38287635 38287635 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:38287635C>T uc003chy.2 + 13 1522 c.1180C>T c.(1180-1182)CAG>TAG p.Q394* OXSR1_uc010hhb.2_Nonsense_Mutation_p.Q328* NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 394 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) TCATCTACCTCAGCCAGCTGG 0.493 WDR48 57599 broad.mit.edu 37 3 39107318 39107318 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:39107318C>T uc003cit.2 + 3 216 c.206C>T c.(205-207)GCA>GTA p.A69V WDR48_uc011ayt.1_Missense_Mutation_p.A69V|WDR48_uc011ayu.1_Intron|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN WD repeat domain 48 69 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCATATATAGCATCTATGGAA 0.289 ZNF620 253639 broad.mit.edu 37 3 40557593 40557593 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:40557593T>C uc003ckk.2 + 5 657 c.508T>C c.(508-510)TTT>CTT p.F170L ZNF620_uc003ckl.2_Missense_Mutation_p.F56L NM_175888 NP_787084 Q6ZNG0 ZN620_HUMAN zinc finger protein 620 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TGGAGAGAAGTTTGAGAAATT 0.403 C3orf39 84892 broad.mit.edu 37 3 43122150 43122150 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:43122150G>A uc003cmq.1 - 2 915 c.774C>T c.(772-774)CTC>CTT p.L258L C3orf39_uc003cmr.1_Silent_p.L258L NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN glycosyltransferase precursor 258 extracellular region transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) TGCCTGAGACGAGGATGTTGG 0.562 C3orf23 285343 broad.mit.edu 37 3 44434452 44434453 + Nonsense_Mutation DNP GC GC TT TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:44434452_44434453GC>TT uc010him.2 + 6 923_924 c.678_679GC>TT c.(676-681)TTGCAA>TTTTAA p.226_227LQ>F* C3orf23_uc003cnd.3_Nonsense_Mutation_p.226_227LQ>F*|C3orf23_uc003cne.3_Nonsense_Mutation_p.82_83LQ>F* NM_173826 NP_776187 Q8N3R3 CC023_HUMAN hypothetical protein LOC285343 isoform 1 226_227 mitochondrion upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CTCATCAATTGCAACTCTCAGA 0.322 ZNF197 10168 broad.mit.edu 37 3 44683855 44683855 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:44683855G>A uc003cnm.2 + 6 1439 c.1233G>A c.(1231-1233)TCG>TCA p.S411S ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 411 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) TTCAGCGTTCGAGCCTTCTAA 0.373 ZNF197 10168 broad.mit.edu 37 3 44684845 44684845 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:44684845G>T uc003cnm.2 + 6 2429 c.2223G>T c.(2221-2223)AAG>AAT p.K741N ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 741 C2H2-type 14. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) ATTGTGGGAAGGCTTTCAGTT 0.423 ZNF502 91392 broad.mit.edu 37 3 44762936 44762936 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:44762936A>G uc011baa.1 + 4 882 c.627A>G c.(625-627)AAA>AAG p.K209K ZNF502_uc003cns.2_Silent_p.K209K|ZNF502_uc011bab.1_Silent_p.K209K|ZNF502_uc003cnt.2_Silent_p.K209K NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) CTGGAGTGAAACCATATGGAT 0.408 SMARCC1 6599 broad.mit.edu 37 3 47719787 47719787 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:47719787C>T uc003crq.2 - 16 1590 c.1472G>A c.(1471-1473)CGA>CAA p.R491Q SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.R382Q NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 491 SWIRM. chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) CATAAAATTTCGATATGCCAA 0.388 DHX30 22907 broad.mit.edu 37 3 47888976 47888976 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:47888976G>A uc003cru.2 + 13 2486 c.2060G>A c.(2059-2061)CGC>CAC p.R687H DHX30_uc003crt.2_Missense_Mutation_p.R648H|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 687 Helicase C-terminal. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GTGCAGCAGCGCCTCCAGGAG 0.627 COL7A1 1294 broad.mit.edu 37 3 48628108 48628108 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:48628108C>T uc003ctz.2 - 13 1779 c.1778G>A c.(1777-1779)CGG>CAG p.R593Q NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 593 Fibronectin type-III 4.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTACTCACCCCGGCGGACAGT 0.592 COL7A1 1294 broad.mit.edu 37 3 48631901 48631901 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:48631901C>T uc003ctz.2 - 2 167 c.166G>A c.(166-168)GAG>AAG p.E56K NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 56 Nonhelical region (NC1).|VWFA 1. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGCGGACCTCGCGGAAATTG 0.602 UQCRC1 7384 broad.mit.edu 37 3 48636573 48636573 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:48636573C>T uc003cub.1 - 13 1476 c.1431G>A c.(1429-1431)TGG>TGA p.W477* UQCRC1_uc003cua.1_Nonsense_Mutation_p.W362*|UQCRC1_uc003cuc.1_Nonsense_Mutation_p.W478*|UQCRC1_uc003cud.1_Nonsense_Mutation_p.W476* NM_003365 NP_003356 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 477 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) AGAAGCGCAGCCAGAACATGC 0.627 CELSR3 1951 broad.mit.edu 37 3 48677916 48677916 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:48677916T>G uc003cul.2 - 34 9383 c.9102A>C c.(9100-9102)GCA>GCC p.A3034A CELSR3_uc003cuf.1_Silent_p.A3132A|CELSR3_uc010hkf.2_Silent_p.A324A|CELSR3_uc010hkg.2_Silent_p.A1017A NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 3034 Cytoplasmic (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) CCAAGGTGGCTGCACGGCACC 0.632 AMT 275 broad.mit.edu 37 3 49459855 49459855 + Missense_Mutation SNP C C T rs150649086 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:49459855C>T uc003cww.2 - 1 158 c.29G>A c.(28-30)CGT>CAT p.R10H AMT_uc011bcn.1_5'UTR|AMT_uc003cwx.2_Missense_Mutation_p.R10H|AMT_uc011bco.1_Missense_Mutation_p.R10H|AMT_uc003cwy.2_5'UTR|AMT_uc011bcp.1_5'UTR|AMT_uc011bcq.1_Missense_Mutation_p.R10H|NICN1_uc003cwz.1_3'UTR NM_000481 NP_000472 P48728 GCST_HUMAN aminomethyltransferase isoform 1 precursor 10 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) AAAGCCCAGACGGGCCACCAC 0.642 BSN 8927 broad.mit.edu 37 3 49700719 49700719 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:49700719C>A uc003cxe.3 + 7 11242 c.11128C>A c.(11128-11130)CGT>AGT p.R3710S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 3710 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ACAGCCATCCCGTGCTTCATC 0.632 RNF123 63891 broad.mit.edu 37 3 49736480 49736480 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:49736480G>A uc003cxh.2 + 10 792 c.706G>A c.(706-708)GCC>ACC p.A236T RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 236 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CTACTTCCCAGCCATCAGCCT 0.567 C3orf54 389119 broad.mit.edu 37 3 49842011 49842011 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:49842011G>A uc003cxq.1 + 2 588 c.455G>A c.(454-456)CGG>CAG p.R152Q NM_203370 NP_976248 Q96EL1 CC054_HUMAN hypothetical protein LOC389119 150 0 BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CACCATCCACGGCCCAAGTCC 0.662 GNAI2 2771 broad.mit.edu 37 3 50293689 50293689 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:50293689G>A uc003cyq.1 + 5 651 c.530G>A c.(529-531)CGG>CAG p.R177Q GNAI2_uc003cyo.1_Missense_Mutation_p.R161Q|GNAI2_uc003cyp.1_Missense_Mutation_p.R161Q|GNAI2_uc010hlg.1_Missense_Mutation_p.R96Q|GNAI2_uc011bdn.1_Missense_Mutation_p.R140Q|GNAI2_uc003cyr.1_Missense_Mutation_p.R96Q NM_002070 NP_002061 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), 177 GTP (By similarity). adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) GATGTGCTACGGACCCGCGTA 0.597 C3orf45 132228 broad.mit.edu 37 3 50316562 50316562 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:50316562C>T uc003cyz.2 + 1 45 c.18C>T c.(16-18)CCC>CCT p.P6P NM_153215 NP_694947 Q8N112 CC045_HUMAN hypothetical protein LOC132228 6 integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CATTGGCCCCCGACTGCCCAC 0.602 MAPKAPK3 7867 broad.mit.edu 37 3 50683670 50683670 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:50683670T>C uc003day.1 + 10 1400 c.804T>C c.(802-804)CCT>CCC p.P268P MAPKAPK3_uc003daz.1_Silent_p.P268P|MAPKAPK3_uc003dba.1_Silent_p.P268P|MAPKAPK3_uc010hlr.1_Silent_p.P268P NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 268 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|MAP kinase kinase activity|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) TCCCCAATCCTGAGTGGTCAG 0.547 RBM15B 29890 broad.mit.edu 37 3 51430939 51430939 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:51430939C>T uc003dbd.2 + 1 2209 c.2109C>T c.(2107-2109)CAC>CAT p.H703H NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 703 interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGCCAAAACACGAGACCAAAA 0.542 RAD54L2 23132 broad.mit.edu 37 3 51696633 51696633 + Missense_Mutation SNP G G A rs146832677 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:51696633G>A uc011bdt.1 + 22 3726 c.3601G>A c.(3601-3603)GCC>ACC p.A1201T RAD54L2_uc003dbh.2_Missense_Mutation_p.A790T|RAD54L2_uc011bdu.1_Missense_Mutation_p.A895T|RAD54L2_uc003dbj.2_Missense_Mutation_p.A527T NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 1201 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CACCAATGCCGCCCTGCCTGG 0.607 GRM2 2912 broad.mit.edu 37 3 51751698 51751698 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:51751698G>A uc010hlv.2 + 5 2649 c.2410G>A c.(2410-2412)GTG>ATG p.V804M GRM2_uc003dbo.3_Missense_Mutation_p.V186M|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 804 Helical; Name=7; (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CAGCGGCTCCGTGGTGCTTGG 0.627 RRP9 9136 broad.mit.edu 37 3 51970485 51970485 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:51970485C>T uc003dbw.1 - 7 643 c.604G>A c.(604-606)GTC>ATC p.V202I NM_004704 NP_004695 O43818 U3IP2_HUMAN RNA, U3 small nucleolar interacting protein 2 202 WD 2. rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) ATGCAGAGGACGTGGCTGCTG 0.642 PARP3 10039 broad.mit.edu 37 3 51980202 51980202 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:51980202C>T uc003dby.2 + 9 1490 c.1119C>T c.(1117-1119)CAC>CAT p.H373H PARP3_uc003dbz.2_Silent_p.H380H NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 373 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TCCAGGCCCACTCCAAACTGG 0.587 GPR62 118442 broad.mit.edu 37 3 51989789 51989789 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:51989789C>T uc003dca.3 + 1 460 c.121C>T c.(121-123)CGC>TGC p.R41C NM_080865 NP_543141 Q9BZJ7 GPR62_HUMAN G protein-coupled receptor 62 41 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CGTGGTGCTGCGCACGCCGGG 0.711 TLR9 54106 broad.mit.edu 37 3 52255388 52255388 + Missense_Mutation SNP G G A rs142806370 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:52255388G>A uc003dda.1 - 2 3578 c.2944C>T c.(2944-2946)CGG>TGG p.R982W TLR9_uc003ddb.2_Missense_Mutation_p.R1079W NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 982 TIR.|Cytoplasmic (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TGGCGCAGCCGCACGTAGCGG 0.716 PHF7 51533 broad.mit.edu 37 3 52453868 52453868 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:52453868C>A uc003ddy.2 + 5 1012 c.206C>A c.(205-207)CCT>CAT p.P69H PHF7_uc003ddz.2_Missense_Mutation_p.P69H NM_016483 NP_057567 Q9BWX1 PHF7_HUMAN PHD finger protein 7 isoform 1 69 nucleus zinc ion binding breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) AGTAAGCTGCCTCAGAGGGGC 0.498 GNL3 26354 broad.mit.edu 37 3 52723158 52723158 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:52723158T>G uc003dfd.2 + 6 650 c.477T>G c.(475-477)CCT>CCG p.P159P GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Silent_p.P147P|GNL3_uc003dff.2_Silent_p.P147P|SNORD19_uc003dfg.1_5'Flank|SNORD19B_uc010hml.1_5'Flank NM_014366 NP_055181 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 159 regulation of cell proliferation nucleolus GTP binding|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) GCAGATGTCCTCAGGTAGAAG 0.428 GLT8D1 55830 broad.mit.edu 37 3 52730046 52730046 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:52730046A>G uc003dfi.3 - 7 682 c.543T>C c.(541-543)CTT>CTC p.L181L GLT8D1_uc003dfj.2_Silent_p.L181L|GLT8D1_uc003dfk.2_Silent_p.L181L|GLT8D1_uc003dfl.2_Silent_p.L181L|GLT8D1_uc003dfm.2_Silent_p.L181L|GLT8D1_uc003dfn.2_Silent_p.L181L|GLT8D1_uc003dfo.1_Silent_p.L181L NM_152932 NP_690909 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 181 Lumenal (Potential). integral to membrane|mitochondrion transferase activity, transferring glycosyl groups 0 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGTAAAGGGCAAGAATATCAC 0.428 NEK4 6787 broad.mit.edu 37 3 52786250 52786250 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:52786250T>C uc003dfq.3 - 7 1255 c.1066A>G c.(1066-1068)ACC>GCC p.T356A NEK4_uc011bej.1_Missense_Mutation_p.T267A|NEK4_uc003dfr.2_Missense_Mutation_p.T356A NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 356 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) AGTTCTGTGGTATTGCTCAAG 0.478 CACNA1D 776 broad.mit.edu 37 3 53806910 53806910 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:53806910G>A uc003dgv.3 + 33 4258 c.4095G>A c.(4093-4095)GCG>GCA p.A1365A CACNA1D_uc003dgu.3_Silent_p.A1385A|CACNA1D_uc003dgy.3_Silent_p.A1350A|CACNA1D_uc003dgw.3_Silent_p.A1032A|CACNA1D_uc003dgx.1_Silent_p.A541A NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1365 IV.|Helical; Name=S5 of repeat IV; (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TCATCTATGCGGTCATTGGCA 0.582 WNT5A 7474 broad.mit.edu 37 3 55508419 55508419 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:55508419G>T uc003dhn.2 - 4 948 c.630C>A c.(628-630)TCC>TCA p.S210S WNT5A_uc003dhm.2_Silent_p.S195S|WNT5A_uc010hmw.2_Silent_p.S195S|WNT5A_uc010hmx.2_Silent_p.S121S NM_003392 NP_003383 P41221 WNT5A_HUMAN wingless-type MMTV integration site family, 210 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) CACTCTCGTAGGAGCCCTTGG 0.667 KCTD6 200845 broad.mit.edu 37 3 58486884 58486884 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:58486884C>T uc003dkj.3 + 3 356 c.239C>T c.(238-240)CCG>CTG p.P80L KCTD6_uc003dki.3_Missense_Mutation_p.P80L|KCTD6_uc003dkk.3_Missense_Mutation_p.P80L NM_001128214 NP_001121686 Q8NC69 KCTD6_HUMAN potassium channel tetramerisation domain 80 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) TTGACCTTACCGTTGGATTTT 0.418 PRICKLE2 166336 broad.mit.edu 37 3 64184458 64184458 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:64184458A>G uc003dmf.2 - 2 730 c.144_splice c.e2+1 p.Q48_splice NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CCAGAATGGTACCTGTTCAGG 0.502 LRIG1 26018 broad.mit.edu 37 3 66455662 66455662 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:66455662T>C uc003dmx.2 - 9 1134 c.1120A>G c.(1120-1122)ACG>GCG p.T374A LRIG1_uc011bfu.1_5'Flank|LRIG1_uc003dmw.2_Missense_Mutation_p.T40A|LRIG1_uc010hnz.2_Missense_Mutation_p.T114A|LRIG1_uc010hoa.2_Missense_Mutation_p.T374A NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 374 Extracellular (Potential).|LRR 13. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCGCCGCTCGTGTCCTCTATT 0.612 CNTN3 5067 broad.mit.edu 37 3 74350697 74350697 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:74350697C>T uc003dpm.1 - 15 2027 c.1947G>A c.(1945-1947)GTG>GTA p.V649V NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 649 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TGACCTCAGGCACTACAAAGG 0.438 OR5H1 26341 broad.mit.edu 37 3 97852151 97852151 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:97852151G>A uc011bgt.1 + 1 610 c.610G>A c.(610-612)GGT>AGT p.G204S NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TATTTTCTCAGGTTCAATTCA 0.313 GPR128 84873 broad.mit.edu 37 3 100413713 100413713 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:100413713G>A uc003duc.2 + 16 2530 c.2262G>A c.(2260-2262)AGG>AGA p.R754R GPR128_uc011bhc.1_Silent_p.R455R|GPR128_uc003dud.2_Silent_p.R277R NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 754 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 CGCGGCCGAGGCTGCGTGTAA 0.458 SENP7 57337 broad.mit.edu 37 3 101136469 101136469 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:101136469T>C uc003dut.2 - 5 561 c.450A>G c.(448-450)GAA>GAG p.E150E SENP7_uc003duu.2_Silent_p.E150E|SENP7_uc003duv.2_Silent_p.E117E|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 150 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 GGCGAAGAGGTTCTAATTTTT 0.368 CEP97 79598 broad.mit.edu 37 3 101481356 101481356 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:101481356T>C uc003dvk.1 + 10 1872 c.1845T>C c.(1843-1845)CGT>CGC p.R615R CEP97_uc011bhf.1_Silent_p.R556R|CEP97_uc003dvl.1_Silent_p.R311R|CEP97_uc003dvm.1_Silent_p.R453R NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 615 CEP110 binding. centrosome|nucleus protein binding ovary(2) 2 ATGAAGAACGTATTAAAAAAT 0.333 ALCAM 214 broad.mit.edu 37 3 105252520 105252520 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:105252520A>G uc003dvx.2 + 5 1073 c.533A>G c.(532-534)CAT>CGT p.H178R ALCAM_uc003dvw.1_Missense_Mutation_p.H178R|ALCAM_uc003dvy.2_Missense_Mutation_p.H178R|ALCAM_uc011bhh.1_Missense_Mutation_p.H127R|ALCAM_uc010hpp.2_5'UTR NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 178 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 AAAGTGCTACATCCCCTTGAA 0.413 CBLB 868 broad.mit.edu 37 3 105470339 105470339 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:105470339A>G uc003dwc.2 - 5 1012 c.690T>C c.(688-690)GTT>GTC p.V230V CBLB_uc011bhi.1_Silent_p.V252V|CBLB_uc003dwd.1_Silent_p.V230V|CBLB_uc003dwe.1_Silent_p.V230V|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 230 Potential.|Cbl-PTB.|EF-hand-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 CAAATTCAAAAACTGAAATGT 0.318 Mis S AML HHLA2 11148 broad.mit.edu 37 3 108072520 108072520 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:108072520C>T uc003dwy.3 + 4 478 c.311C>T c.(310-312)GCG>GTG p.A104V HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Missense_Mutation_p.A104V|HHLA2_uc003dwz.2_Missense_Mutation_p.A104V NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 104 Ig-like V-type 1. integral to membrane ovary(1) 1 AATGGGAATGCGTCGCTATTT 0.403 PVRL3 25945 broad.mit.edu 37 3 110852716 110852716 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:110852716G>A uc003dxt.1 + 6 1304 c.1304G>A c.(1303-1305)CGT>CAT p.R435H PVRL3_uc003dxu.1_Intron NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 435 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity p.R435C(1) upper_aerodigestive_tract(2) 2 CGGACGTTTCGTGGAGACTAC 0.418 BOC 91653 broad.mit.edu 37 3 112991451 112991451 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:112991451A>G uc003dzx.2 + 7 1483 c.862A>G c.(862-864)ACC>GCC p.T288A BOC_uc003dzy.2_Missense_Mutation_p.T288A|BOC_uc003dzz.2_Missense_Mutation_p.T288A|BOC_uc003eab.2_5'UTR NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 288 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) CCTCATCGACACCACCAGCGA 0.627 CCDC52 152185 broad.mit.edu 37 3 113179491 113179491 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:113179491T>A uc003eag.3 - 12 1699 c.1408A>T c.(1408-1410)ACA>TCA p.T470S CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.T366S NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 470 cell division|mitosis centriole|spindle protein binding 0 CTTCTACCTGTGGCTCCGCTT 0.413 UPK1B 7348 broad.mit.edu 37 3 118909928 118909928 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:118909928A>G uc003ecc.2 + 5 534 c.445A>G c.(445-447)ACC>GCC p.T149A UPK1B_uc011bix.1_Missense_Mutation_p.T69A|UPK1B_uc003ecd.2_Missense_Mutation_p.T141A NM_006952 NP_008883 O75841 UPK1B_HUMAN uroplakin 1B 149 Extracellular (Potential). epithelial cell differentiation integral to membrane structural molecule activity 0 GBM - Glioblastoma multiforme(114;0.222) AGTCACCAAAACCTGGGACAG 0.493 NR1I2 8856 broad.mit.edu 37 3 119531741 119531741 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:119531741T>C uc003edj.2 + 5 2567 c.728T>C c.(727-729)ATG>ACG p.M243T NR1I2_uc003edi.2_Missense_Mutation_p.M206T|NR1I2_uc003edk.2_Missense_Mutation_p.M282T|NR1I2_uc003edl.2_Missense_Mutation_p.M131T NM_003889 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 243 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) CTGCCCCACATGGCTGACATG 0.547 POLQ 10721 broad.mit.edu 37 3 121206385 121206385 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:121206385G>T uc003eee.3 - 16 5522 c.5393C>A c.(5392-5394)CCT>CAT p.P1798H POLQ_uc003eed.2_Missense_Mutation_p.P970H NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1798 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) GTCACTAATAGGGCTGTTGTC 0.383 DNA_polymerases_(catalytic_subunits) POLQ 10721 broad.mit.edu 37 3 121260235 121260235 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:121260235G>T uc003eee.3 - 3 564 c.435C>A c.(433-435)CCC>CCA p.P145P NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 145 Helicase ATP-binding. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) CAGAAACAAAGGGAAGAATAA 0.373 DNA_polymerases_(catalytic_subunits) KPNA1 3836 broad.mit.edu 37 3 122146494 122146494 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:122146494T>C uc003efd.1 - 13 1356 c.1320A>G c.(1318-1320)GTA>GTG p.V440V KPNA1_uc003efb.1_Silent_p.V239V|KPNA1_uc003efc.1_Silent_p.V239V|KPNA1_uc011bjr.1_Silent_p.V239V|KPNA1_uc010hrh.2_Silent_p.V239V|KPNA1_uc003efe.2_Silent_p.V440V NM_002264 NP_002255 P52294 IMA1_HUMAN karyopherin alpha 1 440 ARM 9. 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) GGGCAACCTGTACAATCTTAG 0.428 ITGB5 3693 broad.mit.edu 37 3 124492710 124492710 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:124492710G>A uc003eho.2 - 11 2040 c.1743C>T c.(1741-1743)ATC>ATT p.I581I ITGB5_uc010hrx.2_RNA|ITGB5_uc003ehp.1_RNA NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 581 III.|Extracellular (Potential).|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) AGTTGTCCCCGATGTAACCTG 0.527 CCDC37 348807 broad.mit.edu 37 3 126137587 126137587 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:126137587A>G uc003eiu.1 + 7 719 c.620A>G c.(619-621)AAT>AGT p.N207S CCDC37_uc010hsg.1_Missense_Mutation_p.N208S NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 207 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) GTCAGGGAGAATGACTGCAGC 0.667 C3orf22 152065 broad.mit.edu 37 3 126268739 126268739 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:126268739G>A uc003ejb.2 - 4 727 c.398C>T c.(397-399)GCG>GTG p.A133V NM_152533 NP_689746 Q8N5N4 CC022_HUMAN hypothetical protein LOC152065 133 0 GBM - Glioblastoma multiforme(114;0.147) CAGCCCTGCCGCCTTGCTGGT 0.627 MCM2 4171 broad.mit.edu 37 3 127339714 127339714 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:127339714C>G uc003ejp.2 + 14 2496 c.2439C>G c.(2437-2439)AGC>AGG p.S813R MCM2_uc011bkm.1_Missense_Mutation_p.S683R|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.S766R NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 813 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 chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 TCATGCGCAGCATGCGCAAGG 0.597 PIK3R4 30849 broad.mit.edu 37 3 130422668 130422668 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:130422668A>G uc003enj.2 - 13 3578 c.2997T>C c.(2995-2997)ATT>ATC p.I999I NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 999 WD 1. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 CAGAGACTCTAATTCGATTCA 0.423 PIK3R4 30849 broad.mit.edu 37 3 130463961 130463961 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:130463961A>G uc003enj.2 - 2 683 c.102T>C c.(100-102)AGT>AGC p.S34S NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 34 ATP (By similarity).|Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 AAAACCGAGTACTCCCCAGGC 0.438 ATP2C1 27032 broad.mit.edu 37 3 130717188 130717188 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:130717188C>T uc003enl.2 + 26 2664 c.2442C>T c.(2440-2442)TGC>TGT p.C814C ATP2C1_uc011blg.1_Silent_p.C848C|ATP2C1_uc011blh.1_Silent_p.C809C|ATP2C1_uc011bli.1_Silent_p.C848C|ATP2C1_uc003enk.2_Silent_p.C798C|ATP2C1_uc003enm.2_Silent_p.C814C|ATP2C1_uc003enn.2_Silent_p.C798C|ATP2C1_uc003eno.2_Silent_p.C814C|ATP2C1_uc003enp.2_Silent_p.C814C|ATP2C1_uc003enq.2_Silent_p.C814C|ATP2C1_uc003enr.2_Silent_p.C814C|ATP2C1_uc003ens.2_Silent_p.C814C|ATP2C1_uc003ent.2_Silent_p.C814C|ATP2C1_uc003enu.2_Silent_p.C492C NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 814 Helical; Name=8; (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) CCTTCACATGCTTTGTGTTTT 0.388 Hailey-Hailey_disease ACPP 55 broad.mit.edu 37 3 132071668 132071668 + Splice_Site SNP G G A rs144833647 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:132071668G>A uc010htp.2 + 9 1058 c.968_splice c.e9+1 p.G323_splice ACPP_uc003eon.3_Splice_Site_p.G290_splice|ACPP_uc003eop.3_Splice_Site_p.G323_splice NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 TTGAGAAGGGGTAAGTGACTA 0.428 GRK7 131890 broad.mit.edu 37 3 141497368 141497368 + Missense_Mutation SNP G G A rs34429284 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:141497368G>A uc011bnd.1 + 1 326 c.242G>A c.(241-243)CGC>CAC p.R81H NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 81 RGS. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 CCCACGTTCCGCAAGGCGGCA 0.647 CPA3 1359 broad.mit.edu 37 3 148597629 148597629 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:148597629G>A uc003ewm.2 + 6 581 c.529G>A c.(529-531)GCA>ACA p.A177T NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 177 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TGGCATTCACGCACGAGAATG 0.413 FAM194A 131831 broad.mit.edu 37 3 150421606 150421606 + Missense_Mutation SNP T T A rs140978408 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:150421606T>A uc003eyg.2 - 1 137 c.80A>T c.(79-81)GAG>GTG p.E27V FAM194A_uc003eyh.2_5'UTR NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 27 Glu-rich. skin(2)|ovary(1) 3 ctcctcctcctcctctaactc 0.274 FAM194A 131831 broad.mit.edu 37 3 150421612 150421613 + Missense_Mutation DNP AA AA TC rs144754399 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:150421612_150421613AA>TC uc003eyg.2 - 1 130_131 c.73_74TT>GA c.(73-75)TTA>GAA p.L25E FAM194A_uc003eyh.2_5'UTR NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 25 Glu-rich. skin(2)|ovary(1) 3 ctcctcctctaactcctcctcT 0.297 SIAH2 6478 broad.mit.edu 37 3 150460129 150460129 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:150460129G>A uc003eyi.2 - 2 1401 c.774C>T c.(772-774)GCC>GCT p.A258A NM_005067 NP_005058 O43255 SIAH2_HUMAN seven in absentia homolog 2 258 SBD. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CAAAGTTCTCGGCTTGCTTGC 0.562 MED12L 116931 broad.mit.edu 37 3 151129094 151129094 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:151129094G>A uc003eyp.2 + 39 5872 c.5834G>A c.(5833-5835)GGG>GAG p.G1945E MED12L_uc011bnz.1_Intron NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1945 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACAATGTATGGGACACAGATG 0.512 MME 4311 broad.mit.edu 37 3 154861271 154861271 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:154861271C>T uc010hvr.1 + 13 1439 c.1228C>T c.(1228-1230)CGT>TGT p.R410C MME_uc003fab.1_Missense_Mutation_p.R410C|MME_uc003fac.1_Missense_Mutation_p.R410C|MME_uc003fad.1_Missense_Mutation_p.R410C|MME_uc003fae.1_Missense_Mutation_p.R410C NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 410 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AACTTGGAGACGTTGTGCAAA 0.428 ZBBX 79740 broad.mit.edu 37 3 167045770 167045770 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:167045770A>G uc003fep.2 - 11 1145 c.822T>C c.(820-822)CAT>CAC p.H274H ZBBX_uc011bpc.1_Silent_p.H274H|ZBBX_uc003feq.2_Silent_p.H245H NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 274 intracellular zinc ion binding ovary(2) 2 TGTTGTCATCATGATTTCCGG 0.303 PRKCI 5584 broad.mit.edu 37 3 170013723 170013723 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:170013723T>A uc003fgs.2 + 15 1680 c.1442T>A c.(1441-1443)ATA>AAA p.I481K PRKCI_uc003fgt.2_Missense_Mutation_p.I36K NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 481 Protein kinase. 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) CAAATTCGCATACCACGTTCT 0.234 FNDC3B 64778 broad.mit.edu 37 3 172061960 172061960 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:172061960A>G uc003fhy.2 + 19 2334 c.2162A>G c.(2161-2163)TAC>TGC p.Y721C FNDC3B_uc003fhz.3_Missense_Mutation_p.Y721C NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 721 Fibronectin type-III 5. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TCGGAAGTGTACCATGGCCCA 0.562 GHSR 2693 broad.mit.edu 37 3 172165646 172165646 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:172165646G>A uc003fib.1 - 1 558 c.558C>T c.(556-558)CAC>CAT p.H186H GHSR_uc011bpv.1_Silent_p.H186H NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 186 Extracellular (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TGCCGTTCTCGTGCTCCACCC 0.647 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (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.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(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) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) GNB4 59345 broad.mit.edu 37 3 179123026 179123026 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:179123026C>T uc003fjv.3 - 9 1148 c.868G>A c.(868-870)GAT>AAT p.D290N GNB4_uc003fju.3_Intron NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 290 WD 6. cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) TTAAAGTCATCGTAACCAGCC 0.398 ATP11B 23200 broad.mit.edu 37 3 182583408 182583408 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:182583408T>C uc003flb.2 + 13 1622 c.1365T>C c.(1363-1365)AGT>AGC p.S455S ATP11B_uc003flc.2_Silent_p.S39S NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 455 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATCTTAGTAGTTTATCCCATC 0.338 EIF4G1 1981 broad.mit.edu 37 3 184035509 184035509 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:184035509G>A uc003fnp.2 + 6 527 c.329G>A c.(328-330)CGT>CAT p.R110H EIF4G1_uc003fno.1_Missense_Mutation_p.R51H|EIF4G1_uc010hxw.1_Intron|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.R23H|EIF4G1_uc003fnr.2_5'UTR|EIF4G1_uc010hxx.2_Missense_Mutation_p.R117H|EIF4G1_uc003fns.2_Missense_Mutation_p.R70H|EIF4G1_uc010hxy.2_Missense_Mutation_p.R117H|EIF4G1_uc010hxz.1_Missense_Mutation_p.R23H|EIF4G1_uc003fnv.3_Missense_Mutation_p.R110H|EIF4G1_uc003fnu.3_Missense_Mutation_p.R110H|EIF4G1_uc003fnw.2_Missense_Mutation_p.R117H|EIF4G1_uc003fnx.2_5'Flank|EIF4G1_uc003fny.3_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 110 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CACCAGGGGCGTTCCACATAC 0.542 EIF4G1 1981 broad.mit.edu 37 3 184042123 184042123 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:184042123T>C uc003fnp.2 + 17 2805 c.2607T>C c.(2605-2607)GAT>GAC p.D869D EIF4G1_uc003fno.1_Silent_p.D810D|EIF4G1_uc010hxw.1_Silent_p.D705D|EIF4G1_uc003fnt.2_Silent_p.D580D|EIF4G1_uc003fnq.2_Silent_p.D782D|EIF4G1_uc003fnr.2_Silent_p.D705D|EIF4G1_uc010hxx.2_Silent_p.D876D|EIF4G1_uc003fns.2_Silent_p.D829D|EIF4G1_uc010hxy.2_Silent_p.D876D|EIF4G1_uc003fnv.3_Silent_p.D870D|EIF4G1_uc003fnu.3_Silent_p.D869D|EIF4G1_uc003fnw.2_Silent_p.D876D|EIF4G1_uc003fnx.2_Silent_p.D674D|EIF4G1_uc003fny.3_Silent_p.D673D|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 869 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AAGAGATGGATGAAGCTGCTA 0.438 CLCN2 1181 broad.mit.edu 37 3 184071569 184071569 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:184071569C>T uc003foi.2 - 16 1860 c.1736G>A c.(1735-1737)CGT>CAT p.R579H CLCN2_uc003foh.2_Missense_Mutation_p.R103H|CLCN2_uc010hya.1_Missense_Mutation_p.R562H|CLCN2_uc011brl.1_Missense_Mutation_p.R579H|CLCN2_uc011brm.1_Missense_Mutation_p.R535H NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 579 Cytoplasmic (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GTCCTCCACACGCACCCGGTA 0.642 OPA1 4976 broad.mit.edu 37 3 193334982 193334982 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:193334982C>T uc003ftm.2 + 4 698 c.464C>T c.(463-465)GCC>GTC p.A155V OPA1_uc003ftg.2_Missense_Mutation_p.A155V|OPA1_uc003fth.2_Intron|OPA1_uc003fti.2_Missense_Mutation_p.A155V|OPA1_uc003ftj.2_Missense_Mutation_p.A155V|OPA1_uc003ftk.2_Intron|OPA1_uc003ftl.2_Intron|OPA1_uc003ftn.2_Intron NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 155 Mitochondrial intermembrane (By similarity). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) ATTAGAAAAGCCCTTCCTAGT 0.269 CPN2 1370 broad.mit.edu 37 3 194062086 194062086 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:194062086C>T uc003fts.2 - 2 1436 c.1346G>A c.(1345-1347)CGG>CAG p.R449Q NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 449 protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CAAGTGGTCCCGGGTGACGGG 0.652 ATP13A3 79572 broad.mit.edu 37 3 194169309 194169309 + Nonsense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:194169309C>A uc003fty.3 - 11 1429 c.1027G>T c.(1027-1029)GGA>TGA p.G343* ATP13A3_uc003ftz.1_Nonsense_Mutation_p.G49* NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 343 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TCTCCTATTCCTTTCACATCC 0.338 RNF168 165918 broad.mit.edu 37 3 196199224 196199224 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:196199224G>T uc003fwq.2 - 6 1720 c.1182C>A c.(1180-1182)TCC>TCA p.S394S RNF168_uc010iah.2_Silent_p.S227S|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 394 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) CTGCTTCAAAGGAAGATTCTT 0.398 MFI2 4241 broad.mit.edu 37 3 196748318 196748318 + Silent SNP G G A rs148913417 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:196748318G>A uc003fxk.3 - 6 782 c.669C>T c.(667-669)GAC>GAT p.D223D MFI2_uc003fxl.3_Silent_p.D223D|MFI2_uc011bua.1_Missense_Mutation_p.T196M NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 223 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CAAAAGCCACGTCCCCTGCCC 0.672 ZNF718 255403 broad.mit.edu 37 4 155138 155138 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:155138T>C uc003fzt.3 + 8 796 c.663T>C c.(661-663)CAT>CAC p.H221H ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.M1T NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 221 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) AGAGAATTCATGCCAGAGAGA 0.383 TMEM175 84286 broad.mit.edu 37 4 951976 951976 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:951976G>A uc003gbq.2 + 11 1305 c.1207G>A c.(1207-1209)GAG>AAG p.E403K TMEM175_uc003gbr.2_Missense_Mutation_p.E321K|TMEM175_uc003gbu.2_Missense_Mutation_p.E321K|TMEM175_uc003gbs.2_Missense_Mutation_p.E286K|TMEM175_uc003gbt.2_Missense_Mutation_p.E286K|TMEM175_uc003gbv.2_Missense_Mutation_p.E286K|TMEM175_uc010ibm.2_Missense_Mutation_p.E219K NM_032326 NP_115702 Q9BSA9 TM175_HUMAN transmembrane protein 175 403 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCACCAGGCGGAGACGCTGCA 0.667 TMEM175 84286 broad.mit.edu 37 4 952157 952157 + Missense_Mutation SNP G G A rs139453980 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:952157G>A uc003gbq.2 + 11 1486 c.1388G>A c.(1387-1389)CGC>CAC p.R463H TMEM175_uc003gbr.2_Missense_Mutation_p.R381H|TMEM175_uc003gbu.2_Missense_Mutation_p.R381H|TMEM175_uc003gbs.2_Missense_Mutation_p.R346H|TMEM175_uc003gbt.2_Missense_Mutation_p.R346H|TMEM175_uc003gbv.2_Missense_Mutation_p.R346H|TMEM175_uc010ibm.2_Missense_Mutation_p.R279H NM_032326 NP_115702 Q9BSA9 TM175_HUMAN transmembrane protein 175 463 Helical; (Potential). integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTGTTGCTGCGCCTGCTCGTG 0.721 IDUA 3425 broad.mit.edu 37 4 995261 995261 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:995261T>C uc003gby.2 + 5 587 c.499T>C c.(499-501)TAC>CAC p.Y167H IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.Y120H NM_000203 NP_000194 P35475 IDUA_HUMAN alpha-L-iduronidase precursor 167 disaccharide metabolic process lysosome cation binding|L-iduronidase activity 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) TGCAGGTAGGTACGGACTGGC 0.582 CRIPAK 285464 broad.mit.edu 37 4 1388791 1388791 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:1388791G>A uc003gdf.2 + 1 3452 c.492G>A c.(490-492)GTG>GTA p.V164V NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 164 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GTGCCGACGTGGAGTGCCCGC 0.687 WHSC2 7469 broad.mit.edu 37 4 1993312 1993312 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:1993312T>G uc003gem.2 - 2 614 c.374A>C c.(373-375)AAT>ACT p.N125T WHSC2_uc003gel.2_Missense_Mutation_p.N39T|WHSC2_uc003gen.2_Intron NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 114 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) AACGTTGGGATTCTGCTCCTC 0.502 POLN 353497 broad.mit.edu 37 4 2083454 2083454 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:2083454G>A uc003ger.2 - 20 2214 c.2214C>T c.(2212-2214)ATC>ATT p.I738I POLN_uc010icg.1_Silent_p.I186I|POLN_uc010ich.1_Silent_p.I270I NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 738 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TTCTGCCCATGATGGACACCA 0.587 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage SH3BP2 6452 broad.mit.edu 37 4 2831297 2831297 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:2831297C>A uc003gfi.3 + 8 784 c.664C>A c.(664-666)CGG>AGG p.R222R SH3BP2_uc011bvp.1_Silent_p.R250R|SH3BP2_uc003gfj.3_Silent_p.R279R|SH3BP2_uc003gfk.3_Silent_p.R222R|SH3BP2_uc003gfl.3_Silent_p.R155R|SH3BP2_uc003gfm.3_Silent_p.R197R NM_001122681 NP_001116153 P78314 3BP2_HUMAN SH3-domain binding protein 2 isoform a 222 signal transduction SH3 domain binding|SH3/SH2 adaptor activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) TGACATGCCCCGGGCCCACTC 0.667 Cherubism RGS12 6002 broad.mit.edu 37 4 3318198 3318198 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:3318198C>T uc003ggw.2 + 2 1205 c.301C>T c.(301-303)CGC>TGC p.R101C RGS12_uc003ggu.2_Missense_Mutation_p.R101C|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.R101C|RGS12_uc003ggx.1_Missense_Mutation_p.R101C NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 101 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGGCGTCGGCCGCTTCGAATC 0.458 RGS12 6002 broad.mit.edu 37 4 3425305 3425305 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:3425305G>A uc003ggw.2 + 13 4075 c.3171G>A c.(3169-3171)ACG>ACA p.T1057T RGS12_uc003ggv.2_Silent_p.T1057T|RGS12_uc003ggy.1_Silent_p.T455T|RGS12_uc003ggz.2_Silent_p.T409T|RGS12_uc010icu.1_Silent_p.T256T|RGS12_uc011bvs.1_Silent_p.T399T|RGS12_uc003gha.2_Silent_p.T399T|RGS12_uc010icv.2_Silent_p.T256T|RGS12_uc003ghb.2_Silent_p.T256T NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1057 RBD 2. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGCCCGTCACGGAGGTGCTGC 0.622 HGFAC 3083 broad.mit.edu 37 4 3444812 3444812 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:3444812T>C uc003ghc.2 + 3 337 c.334T>C c.(334-336)TTC>CTC p.F112L HGFAC_uc010icw.2_Missense_Mutation_p.F112L NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 112 Fibronectin type-II. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CAGGTTCCCCTTCCGCTACGG 0.716 DOK7 285489 broad.mit.edu 37 4 3494914 3494914 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:3494914C>A uc003ghd.2 + 7 1271 c.1201C>A c.(1201-1203)CTG>ATG p.L401M DOK7_uc003ghe.2_Missense_Mutation_p.L263M|DOK7_uc003ghf.2_Silent_p.P142P|DOK7_uc003ghg.1_Missense_Mutation_p.L91M NM_173660 NP_775931 Q18PE1 DOK7_HUMAN downstream of tyrosine kinase 7 isoform 1 401 positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GCCCACCTCCCTGCGGGCCCA 0.697 TMEM128 85013 broad.mit.edu 37 4 4239591 4239591 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:4239591A>G uc003ghr.1 - 4 500 c.470T>C c.(469-471)GTT>GCT p.V157A TMEM128_uc003ghq.1_Missense_Mutation_p.V133A|TMEM128_uc003ghs.2_3'UTR|TMEM128_uc011bvv.1_Missense_Mutation_p.V157A|TMEM128_uc011bvw.1_Intron NM_032927 NP_116316 Q5BJH2 TM128_HUMAN transmembrane protein 128 157 Helical; (Potential). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) AAACATGACAACCCCCATAAA 0.363 CYTL1 54360 broad.mit.edu 37 4 5021035 5021035 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:5021035C>A uc003gig.2 - 1 163 c.138G>T c.(136-138)CAG>CAT p.Q46H NM_018659 NP_061129 Q9NRR1 CYTL1_HUMAN cytokine-like 1 precursor 46 signal transduction extracellular space|soluble fraction receptor binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) GCTCCGAGACCTGCAGGAGGT 0.647 MAN2B2 23324 broad.mit.edu 37 4 6621751 6621751 + Missense_Mutation SNP C C T rs149521690 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:6621751C>T uc003gjf.1 + 18 2948 c.2912C>T c.(2911-2913)ACG>ATG p.T971M MAN2B2_uc003gje.1_3'UTR|MAN2B2_uc011bwf.1_Missense_Mutation_p.T920M NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 971 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 AGCTGGAGGACGGGGCCTGGC 0.677 ABLIM2 84448 broad.mit.edu 37 4 7985021 7985021 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:7985021C>T uc003gko.2 - 19 1835 c.1692G>A c.(1690-1692)CTG>CTA p.L564L ABLIM2_uc003gkk.2_Silent_p.L189L|ABLIM2_uc003gkl.2_Silent_p.L292L|ABLIM2_uc003gkj.3_Silent_p.L598L|ABLIM2_uc003gkm.3_Silent_p.L512L|ABLIM2_uc003gkp.2_Silent_p.L484L|ABLIM2_uc003gkq.2_Silent_p.L525L|ABLIM2_uc003gkr.2_Silent_p.L474L|ABLIM2_uc003gki.2_RNA NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 564 HP. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding pancreas(3) 3 CGTCTTTGGGCAGTTTCACGC 0.587 DRD5 1816 broad.mit.edu 37 4 9783796 9783796 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:9783796C>T uc003gmb.3 + 1 539 c.143C>T c.(142-144)ACC>ATC p.T48I NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 48 Helical; Name=1; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGCCTGCTGACCCTACTCATC 0.677 BOD1L 259282 broad.mit.edu 37 4 13605418 13605418 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:13605418C>T uc003gmz.1 - 10 3223 c.3106G>A c.(3106-3108)GAC>AAC p.D1036N BOD1L_uc010idr.1_Missense_Mutation_p.D373N NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1036 Lys-rich. DNA binding ovary(5)|breast(1) 6 TTATTTTCGTCCTTCTTTTTT 0.378 CPEB2 132864 broad.mit.edu 37 4 15055827 15055827 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:15055827A>G uc003gni.1 + 7 1199 c.1112A>G c.(1111-1113)TAT>TGT p.Y371C CPEB2_uc003gnj.1_Missense_Mutation_p.Y341C|CPEB2_uc003gnk.1_Missense_Mutation_p.Y379C|CPEB2_uc003gnl.1_Missense_Mutation_p.Y352C|CPEB2_uc003gnm.1_Missense_Mutation_p.Y349C|CPEB2_uc003gnn.1_Missense_Mutation_p.Y344C NM_182485 NP_872291 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding 371 RRM 1. regulation of translation cytoplasm nucleotide binding|RNA binding skin(1) 1 AGCAAGTCCTATTTTCCACCA 0.343 TAPT1 202018 broad.mit.edu 37 4 16165090 16165090 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:16165090T>C uc010ied.1 - 14 1626 c.1545A>G c.(1543-1545)ATA>ATG p.I515M TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Missense_Mutation_p.I404M NM_153365 NP_699196 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 515 integral to membrane growth hormone-releasing hormone receptor activity 0 CAAGTAATGGTATGATATTTT 0.378 SLIT2 9353 broad.mit.edu 37 4 20490474 20490474 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:20490474G>A uc003gpr.1 + 8 848 c.644G>A c.(643-645)TGC>TAC p.C215Y SLIT2_uc003gps.1_Missense_Mutation_p.C215Y NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 215 LRRCT 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TATTGTGACTGCCACCTGGCC 0.468 PI4K2B 55300 broad.mit.edu 37 4 25270149 25270149 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:25270149A>G uc003grk.2 + 8 1296 c.1163A>G c.(1162-1164)GAC>GGC p.D388G PI4K2B_uc011bxs.1_Missense_Mutation_p.D292G NM_018323 NP_060793 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 388 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding ovary(2)|skin(2) 4 Breast(46;0.173) TATATTTCTGACATGAACTTT 0.303 STIM2 57620 broad.mit.edu 37 4 27024487 27024487 + Missense_Mutation SNP G G A rs145387199 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:27024487G>A uc003gsh.3 + 13 2611 c.2395G>A c.(2395-2397)GAC>AAC p.D799N STIM2_uc003gsg.3_Missense_Mutation_p.D791N|STIM2_uc010iex.2_3'UTR|STIM2_uc010iey.2_3'UTR NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 704 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) AGCTGGCAACGACAGTAAACC 0.468 N4BP2 55728 broad.mit.edu 37 4 40108561 40108561 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:40108561C>T uc003guy.3 + 5 1753 c.1415C>T c.(1414-1416)ACT>ATT p.T472I N4BP2_uc010ifq.2_Missense_Mutation_p.T392I|N4BP2_uc010ifr.2_Missense_Mutation_p.T392I NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 472 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 ATTCTTAGTACTGATGATTAT 0.318 RHOH 399 broad.mit.edu 37 4 40244932 40244932 + Translation_Start_Site SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:40244932G>A uc003guz.2 + 3 650 c.-74G>A c.(-76--72)GCGTG>GCATG NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 GCTGAATGGCGTGTGCTGCAG 0.557 LIMCH1 22998 broad.mit.edu 37 4 41607973 41607973 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:41607973G>A uc003gvu.3 + 6 492 c.438G>A c.(436-438)ACG>ACA p.T146T LIMCH1_uc003gvt.1_5'UTR|LIMCH1_uc003gvv.3_Silent_p.T146T|LIMCH1_uc003gvw.3_Silent_p.T146T|LIMCH1_uc003gvx.3_Silent_p.T146T|LIMCH1_uc003gwe.3_Silent_p.T146T|LIMCH1_uc003gvy.3_5'UTR|LIMCH1_uc003gwa.3_5'UTR|LIMCH1_uc003gvz.3_5'UTR NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 146 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 ACAGCGGAACGACACTAAACC 0.448 GUF1 60558 broad.mit.edu 37 4 44699434 44699434 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:44699434C>T uc003gww.3 + 16 2052 c.1845C>T c.(1843-1845)GCC>GCT p.A615A GUF1_uc011bza.1_Silent_p.A22A NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 615 translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 GTGTGAAAGCCTATAGGAAAA 0.299 SLAIN2 57606 broad.mit.edu 37 4 48384616 48384616 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:48384616T>C uc003gya.3 + 5 1038 c.894T>C c.(892-894)TCT>TCC p.S298S SLAIN2_uc003gyb.1_5'UTR NM_020846 NP_065897 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 298 centrosome 0 CCACCACGTCTCGGCGCAGTT 0.338 FRYL 285527 broad.mit.edu 37 4 48588687 48588687 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:48588687A>G uc003gyh.1 - 19 2304 c.1699T>C c.(1699-1701)TTG>CTG p.L567L FRYL_uc003gyk.2_Silent_p.L567L NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TCAGGAATCAACCTTGGAATC 0.343 FRYL 285527 broad.mit.edu 37 4 48622719 48622719 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:48622719C>T uc003gyh.1 - 6 856 c.251G>A c.(250-252)CGC>CAC p.R84H FRYL_uc003gyk.2_Missense_Mutation_p.R84H|FRYL_uc003gyl.1_Missense_Mutation_p.R135H|FRYL_uc003gym.1_Missense_Mutation_p.R84H NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TCCATTTTGGCGTCTGTACCA 0.418 LRRC66 339977 broad.mit.edu 37 4 52883364 52883364 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:52883364T>C uc003gzi.2 - 1 429 c.416A>G c.(415-417)CAC>CGC p.H139R NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 139 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GCTGCTTCTGTGGCGTTTCAC 0.433 SPATA18 132671 broad.mit.edu 37 4 52943136 52943136 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:52943136C>T uc003gzl.2 + 7 1228 c.950C>T c.(949-951)GCG>GTG p.A317V SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.A285V|SPATA18_uc003gzk.1_Missense_Mutation_p.A317V NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 317 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) CGCCTGGACGCGCAGTGCCTG 0.642 FIP1L1 81608 broad.mit.edu 37 4 54325484 54325484 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:54325484C>T uc003gzy.2 + 18 1839 c.1653C>T c.(1651-1653)CGC>CGT p.R551R PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Silent_p.R545R|FIP1L1_uc003gzz.2_Silent_p.R477R|FIP1L1_uc003hab.2_Silent_p.R516R|FIP1L1_uc003hac.2_Silent_p.R305R|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.A136V|FIP1L1_uc003hae.2_Missense_Mutation_p.A139V NM_030917 NP_112179 Q6UN15 FIP1_HUMAN FIP1 like 1 isoform 1 551 Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich. mRNA processing nucleus RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) GTAGACGTCGCCATGAAAGTG 0.373 T PDGFRA idiopathic hypereosinophilic syndrome CDKL2 8999 broad.mit.edu 37 4 76522205 76522205 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:76522205A>G uc003hiq.2 - 9 1761 c.1236T>C c.(1234-1236)ATT>ATC p.I412I CDKL2_uc011cbp.1_Silent_p.I412I NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 412 sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TAAGTGGGGGAATTGCCACGC 0.453 SHROOM3 57619 broad.mit.edu 37 4 77662420 77662420 + Missense_Mutation SNP G G A rs151102508 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:77662420G>A uc011cbx.1 + 5 4047 c.3094G>A c.(3094-3096)GTG>ATG p.V1032M SHROOM3_uc011cbz.1_Missense_Mutation_p.V856M|SHROOM3_uc003hkf.1_Missense_Mutation_p.V907M|SHROOM3_uc003hkg.2_Missense_Mutation_p.V810M NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1032 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GGTGGGGATCGTGGAGGAGGC 0.697 PRDM8 56978 broad.mit.edu 37 4 81124490 81124490 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:81124490A>G uc010ijo.2 + 8 2713 c.1874A>G c.(1873-1875)AAC>AGC p.N625S PRDM8_uc003hmb.3_Missense_Mutation_p.N625S|PRDM8_uc003hmc.3_Missense_Mutation_p.N625S NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 625 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CCCGCGCAGAACTGGTGCGCC 0.388 HNRPDL 9987 broad.mit.edu 37 4 83348411 83348411 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:83348411T>G uc003hmr.2 - 5 1488 c.953A>C c.(952-954)CAG>CCG p.Q318P HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.Q318P NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 318 Poly-Gln. regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) TTGTTGTTGCTGTTGCTGCCT 0.413 SEC31A 22872 broad.mit.edu 37 4 83770124 83770124 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:83770124T>A uc003hnf.2 - 20 2499 c.2335A>T c.(2335-2337)ATC>TTC p.I779F SEC31A_uc003hne.2_Missense_Mutation_p.I512F|SEC31A_uc011ccl.1_Missense_Mutation_p.I740F|SEC31A_uc003hnl.2_Missense_Mutation_p.I740F|SEC31A_uc003hng.2_Missense_Mutation_p.I779F|SEC31A_uc003hnh.2_Missense_Mutation_p.I779F|SEC31A_uc003hni.2_Missense_Mutation_p.I779F|SEC31A_uc003hnj.2_Missense_Mutation_p.I740F|SEC31A_uc011ccm.1_Missense_Mutation_p.I774F|SEC31A_uc011ccn.1_Missense_Mutation_p.I779F|SEC31A_uc003hnk.2_Missense_Mutation_p.I740F|SEC31A_uc003hnm.2_Missense_Mutation_p.I779F|SEC31A_uc003hnn.1_Missense_Mutation_p.I779F NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 779 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) AGCTGCATGATATTTGGCTAA 0.413 COPS4 51138 broad.mit.edu 37 4 83978203 83978203 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:83978203A>G uc003hoa.2 + 5 674 c.535A>G c.(535-537)ACC>GCC p.T179A COPS4_uc003hob.2_Missense_Mutation_p.T179A|COPS4_uc010ijw.2_Missense_Mutation_p.T179A|COPS4_uc010ijx.2_Missense_Mutation_p.T179A NM_016129 NP_057213 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 179 cullin deneddylation cytoplasm|signalosome protein binding kidney(1) 1 Hepatocellular(203;0.114) GAATGAATCAACCAATGAACA 0.373 PLAC8 51316 broad.mit.edu 37 4 84015872 84015872 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:84015872T>C uc003hoe.2 - 4 477 c.316A>G c.(316-318)ATC>GTC p.I106V PLAC8_uc011cco.1_Missense_Mutation_p.I106V|PLAC8_uc010ijy.2_RNA|PLAC8_uc010ijz.2_RNA|PLAC8_uc003hod.2_Missense_Mutation_p.I106V NM_001130716 NP_001124188 Q9NZF1 PLAC8_HUMAN placenta-specific 8 106 ovary(1) 1 Hepatocellular(203;0.114) CTTCTGTTGATATCTCTCTTG 0.363 FAM175A 84142 broad.mit.edu 37 4 84383916 84383916 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:84383916G>T uc003hou.2 - 9 1001 c.936C>A c.(934-936)AAC>AAA p.N312K MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Missense_Mutation_p.N140K|FAM175A_uc003hov.2_Missense_Mutation_p.N203K NM_139076 NP_620775 Q6UWZ7 F175A_HUMAN coiled-coil domain containing 98 312 chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding kidney(1) 1 GGTGGTTGTAGTTACAGCTAC 0.363 WDFY3 23001 broad.mit.edu 37 4 85708820 85708820 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:85708820G>T uc003hpd.2 - 23 4124 c.3716C>A c.(3715-3717)CCA>CAA p.P1239Q NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1239 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CACCACTGGTGGATTTGCCGA 0.493 SPP1 6696 broad.mit.edu 37 4 88902839 88902839 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:88902839C>T uc003hra.2 + 6 594 c.429C>T c.(427-429)ACC>ACT p.T143T SPP1_uc003hrb.2_Silent_p.T116T|SPP1_uc003hrc.2_Silent_p.T129T|SPP1_uc011cde.1_Silent_p.T156T|SPP1_uc003hrd.2_Silent_p.T102T NM_001040058 NP_001035147 P10451 OSTP_HUMAN secreted phosphoprotein 1 isoform a 143 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity ovary(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) TGCCAGCAACCGAAGTTTTCA 0.458 ABCG2 9429 broad.mit.edu 37 4 89052253 89052253 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:89052253A>G uc003hrg.2 - 5 984 c.491T>C c.(490-492)GTC>GCC p.V164A ABCG2_uc003hrh.2_Missense_Mutation_p.V164A|ABCG2_uc003hrf.2_Missense_Mutation_p.V34A NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 164 ABC transporter.|Cytoplasmic (Potential). cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) CTCTTGAATGACCCTGTTAAT 0.433 HERC3 8916 broad.mit.edu 37 4 89589160 89589160 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:89589160T>C uc003hrw.1 + 14 1727 c.1561T>C c.(1561-1563)TAT>CAT p.Y521H HERC3_uc011cdn.1_Missense_Mutation_p.Y403H|HERC3_uc011cdo.1_Intron NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 521 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GGATTCCAAGTATTATATAAC 0.428 GRID2 2895 broad.mit.edu 37 4 94316827 94316827 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:94316827C>T uc011cdt.1 + 9 1573 c.1315C>T c.(1315-1317)CGT>TGT p.R439C GRID2_uc011cdu.1_Missense_Mutation_p.R344C NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 439 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GAATAACATGCGTGGAGTGGT 0.393 BANK1 55024 broad.mit.edu 37 4 102951225 102951225 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:102951225A>G uc003hvy.3 + 10 1977 c.1703A>G c.(1702-1704)GAA>GGA p.E568G BANK1_uc003hvx.3_Missense_Mutation_p.E553G|BANK1_uc010ill.2_Missense_Mutation_p.E435G|BANK1_uc003hvz.3_Missense_Mutation_p.E538G NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 568 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) aaagaagaggaaaaagagcag 0.294 TACR3 6870 broad.mit.edu 37 4 104640758 104640758 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:104640758G>A uc003hxe.1 - 1 218 c.75C>T c.(73-75)ACC>ACT p.T25T NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 25 Extracellular (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) CTAGCGAGGCGGTCAGGTTCA 0.687 GSTCD 79807 broad.mit.edu 37 4 106755632 106755632 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:106755632T>C uc003hxz.3 + 9 1617 c.1545T>C c.(1543-1545)GCT>GCC p.A515A GSTCD_uc003hxy.3_Silent_p.A428A|GSTCD_uc011cfb.1_Silent_p.A138A NM_001031720 NP_001026890 Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain 515 cytoplasm rRNA methyltransferase activity breast(1)|central_nervous_system(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) CATTGCATGCTTGTGGAGTGG 0.423 SEC24B 10427 broad.mit.edu 37 4 110459743 110459743 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:110459743A>G uc003hzk.2 + 23 3738 c.3683A>G c.(3682-3684)CAC>CGC p.H1228R SEC24B_uc003hzl.2_Missense_Mutation_p.H1193R|SEC24B_uc011cfp.1_Missense_Mutation_p.H1258R|SEC24B_uc011cfq.1_Missense_Mutation_p.H1227R|SEC24B_uc011cfr.1_Missense_Mutation_p.H1192R NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 1228 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) CCAATCCTTCACATAGTAAAG 0.363 C4orf21 55345 broad.mit.edu 37 4 113539998 113539998 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:113539998C>A uc003iau.2 - 6 1411 c.1200G>T c.(1198-1200)CAG>CAT p.Q400H C4orf21_uc003iaw.2_Missense_Mutation_p.Q400H NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ATTTTACTTCCTGATTCCAGG 0.343 ARSJ 79642 broad.mit.edu 37 4 114824636 114824636 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:114824636A>G uc003ibq.1 - 2 1482 c.594T>C c.(592-594)GGT>GGC p.G198G ARSJ_uc010imu.1_Silent_p.G198G|ARSJ_uc010imv.1_Silent_p.G26G NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN arylsulfatase J precursor 198 extracellular region arylsulfatase activity|metal ion binding ovary(1) 1 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) CCAAAAGGGAACCAAAAAAGG 0.438 SYNPO2 171024 broad.mit.edu 37 4 119951132 119951132 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:119951132G>A uc003icm.3 + 4 1398 c.1202G>A c.(1201-1203)CGT>CAT p.R401H SYNPO2_uc010ina.2_Missense_Mutation_p.R401H|SYNPO2_uc010inb.2_Missense_Mutation_p.R401H|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.R329H NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 401 Poly-Arg. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 AAGAAGCGACGTCGGAGGGCC 0.507 PDE5A 8654 broad.mit.edu 37 4 120427073 120427073 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:120427073A>G uc003idh.2 - 17 2359 c.2204T>C c.(2203-2205)TTT>TCT p.F735S uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.F693S|PDE5A_uc003idg.2_Missense_Mutation_p.F683S NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 735 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AAGTTCAAAAAATTCTCCTCG 0.308 TNIP3 79931 broad.mit.edu 37 4 122075732 122075732 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:122075732C>T uc010ing.2 - 5 662 c.466G>A c.(466-468)GAA>AAA p.E156K TNIP3_uc010inh.2_Missense_Mutation_p.E156K|TNIP3_uc011cgj.1_Missense_Mutation_p.E214K|TNIP3_uc010ini.2_Missense_Mutation_p.E156K NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 156 Potential. ovary(1) 1 ATTTCACATTCGTAATGTTCC 0.358 TMEM155 132332 broad.mit.edu 37 4 122682762 122682762 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:122682762G>A uc003idx.1 - 5 702 c.143C>T c.(142-144)GCT>GTT p.A48V TMEM155_uc003idy.1_Missense_Mutation_p.A48V NM_152399 NP_689612 Q4W5P6 TM155_HUMAN transmembrane protein 155 precursor 48 extracellular region 0 TCCCAGAAAAGCCAGTGCATG 0.423 TRPC3 7222 broad.mit.edu 37 4 122853842 122853842 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:122853842C>T uc003ieg.2 - 2 645 c.571G>A c.(571-573)GTA>ATA p.V191I TRPC3_uc010inr.2_Missense_Mutation_p.V118I|TRPC3_uc003ief.2_Missense_Mutation_p.V118I|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 106 Cytoplasmic (Potential).|ANK 3. axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 ATGGCCTCTACGATGCGCACG 0.632 FAT4 79633 broad.mit.edu 37 4 126239277 126239277 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:126239277A>C uc003ifj.3 + 1 1711 c.1711A>C c.(1711-1713)ACT>CCT p.T571P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 571 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCTTGTAGTAACTCTCCTAGA 0.502 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAT4 79633 broad.mit.edu 37 4 126371710 126371710 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:126371710T>C uc003ifj.3 + 9 9539 c.9539T>C c.(9538-9540)GTG>GCG p.V3180A FAT4_uc011cgp.1_Missense_Mutation_p.V1478A|FAT4_uc003ifi.1_Missense_Mutation_p.V658A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3180 Cadherin 30.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TACTGCAGTGTGACCGTAAAT 0.413 FAT4 79633 broad.mit.edu 37 4 126373095 126373095 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:126373095G>A uc003ifj.3 + 9 10924 c.10924G>A c.(10924-10926)GAT>AAT p.D3642N FAT4_uc011cgp.1_Missense_Mutation_p.D1940N|FAT4_uc003ifi.1_Missense_Mutation_p.D1120N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3642 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACAGGATCCAGATGTGTTAGA 0.473 PLK4 10733 broad.mit.edu 37 4 128814517 128814517 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:128814517A>G uc003ifo.2 + 11 2511 c.2266A>G c.(2266-2268)AGT>GGT p.S756G PLK4_uc011cgs.1_Missense_Mutation_p.S724G|PLK4_uc011cgt.1_Missense_Mutation_p.S715G NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 756 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 AAAAAGTGAAAGTGAAGTTAA 0.294 PCDH10 57575 broad.mit.edu 37 4 134072897 134072897 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:134072897G>A uc003iha.2 + 1 2428 c.1602G>A c.(1600-1602)GAG>GAA p.E534E uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.E534E NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 534 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TCGACTATGAGCAGCTGAAGG 0.557 MAML3 55534 broad.mit.edu 37 4 140641268 140641268 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:140641268T>C uc003ihz.1 - 7 3363 c.2611A>G c.(2611-2613)ACA>GCA p.T871A MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.T339A NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 872 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) GTCATGCCTGTGCTCATATTG 0.582 ANAPC10 10393 broad.mit.edu 37 4 145916687 145916687 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:145916687A>G uc003iju.3 - 6 551 c.396T>C c.(394-396)ACT>ACC p.T132T ANAPC10_uc003ijv.3_Silent_p.T132T|ANAPC10_uc003ijw.3_Silent_p.T132T NM_014885 NP_055700 Q9UM13 APC10_HUMAN anaphase promoting complex subunit 10 132 DOC. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm ubiquitin-protein ligase activity 0 all_hematologic(180;0.151) TGAATGTACGAGTTGGCTTCT 0.398 TMEM184C 55751 broad.mit.edu 37 4 148555054 148555054 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:148555054A>G uc003ila.3 + 9 1587 c.1018A>G c.(1018-1020)AGA>GGA p.R340G NM_018241 NP_060711 Q9NVA4 T184C_HUMAN transmembrane protein 184C 340 integral to membrane 0 CTCAGATATTAGAGATGATAT 0.383 FHDC1 85462 broad.mit.edu 37 4 153897218 153897218 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:153897218G>T uc003inf.2 + 11 2850 c.2775G>T c.(2773-2775)CGG>CGT p.R925R NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 925 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) TGTCATCCCGGGGGCCCTCCC 0.667 TLR2 7097 broad.mit.edu 37 4 154625490 154625490 + Silent SNP G G A rs150700268 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:154625490G>A uc003inq.2 + 3 1650 c.1431G>A c.(1429-1431)CCG>CCA p.P477P TLR2_uc003inr.2_Silent_p.P477P|TLR2_uc003ins.2_Silent_p.P477P NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 477 LRR 13.|Extracellular (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) TGAATTTGCCGCAACTCAAAG 0.373 DCHS2 54798 broad.mit.edu 37 4 155163886 155163886 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:155163886A>G uc003inw.2 - 22 5615 c.5615T>C c.(5614-5616)CTT>CCT p.L1872P NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1872 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CGTATTAGAAAGCCTGGGCAT 0.398 KLHL2 11275 broad.mit.edu 37 4 166218824 166218824 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:166218824C>T uc003irb.2 + 7 977 c.718C>T c.(718-720)CGA>TGA p.R240* KLHL2_uc011cjm.1_Nonsense_Mutation_p.R244*|KLHL2_uc003irc.2_Nonsense_Mutation_p.R152*|KLHL2_uc010ira.2_5'UTR NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 240 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) GTTTATGGCCCGACTGATGGA 0.398 KLHL2 11275 broad.mit.edu 37 4 166231869 166231869 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:166231869T>C uc003irb.2 + 10 1463 c.1204T>C c.(1204-1206)TTA>CTA p.L402L KLHL2_uc011cjm.1_Silent_p.L406L|KLHL2_uc003irc.2_Silent_p.L314L|KLHL2_uc010ira.2_Silent_p.L55L NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 402 Kelch 3. intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) AAATGGATTATTATACGCTGT 0.423 GALNTL6 442117 broad.mit.edu 37 4 173730604 173730604 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:173730604C>A uc003isv.2 + 6 1382 c.646C>A c.(646-648)CGT>AGT p.R216S NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 216 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 CATCCGGACCCGTCTCCTGGG 0.517 SPCS3 60559 broad.mit.edu 37 4 177241279 177241279 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:177241279G>A uc003iur.3 + 1 190 c.52G>A c.(52-54)GTG>ATG p.V18M NM_021928 NP_068747 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 18 Helical; Signal-anchor for type II membrane protein; (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity ovary(1) 1 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) CTCGCTGAGCGTGATGGCGGC 0.637 ODZ3 55714 broad.mit.edu 37 4 183664526 183664526 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:183664526C>T uc003ivd.1 + 18 3620 c.3583C>T c.(3583-3585)CGG>TGG p.R1195W ODZ3_uc003ive.1_Missense_Mutation_p.R601W NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1195 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CAACTATGTGCGGCGGATATT 0.453 ODZ3 55714 broad.mit.edu 37 4 183696226 183696226 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:183696226A>G uc003ivd.1 + 23 5261 c.5224A>G c.(5224-5226)AAC>GAC p.N1742D NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1742 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GCCTGGCGAGAACGGTCAAAA 0.542 C4orf41 60684 broad.mit.edu 37 4 184614802 184614802 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:184614802T>C uc003ivx.2 + 21 2474 c.2298T>C c.(2296-2298)ACT>ACC p.T766T C4orf41_uc003ivw.2_Silent_p.T766T|C4orf41_uc010isc.2_Silent_p.T110T|C4orf41_uc003ivy.2_Silent_p.T372T NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 766 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) CTGCACTGACTAATGAAATGT 0.403 PDLIM3 27295 broad.mit.edu 37 4 186423511 186423511 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:186423511G>A uc003ixw.3 - 8 1156 c.1032C>T c.(1030-1032)CAC>CAT p.H344H PDLIM3_uc003ixx.3_Silent_p.H296H|PDLIM3_uc010isi.2_RNA NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN PDZ and LIM domain protein 3 isoform a 344 LIM zinc-binding. sarcomere zinc ion binding ovary(2) 2 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) GGGCTCTTGCGTGGGTTTCGC 0.498 MTNR1A 4543 broad.mit.edu 37 4 187454877 187454877 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:187454877G>T uc003izd.1 - 2 1037 c.1019C>A c.(1018-1020)ACC>AAC p.T340N NM_005958 NP_005949 P48039 MTR1A_HUMAN melatonin receptor 1A 340 Cytoplasmic (Potential). circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) ATTATTGTTGGTCATCAGTGG 0.502 FAT1 2195 broad.mit.edu 37 4 187510305 187510305 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:187510305T>C uc003izf.2 - 27 13396 c.13208A>G c.(13207-13209)TAT>TGT p.Y4403C FAT1_uc010isn.2_Missense_Mutation_p.Y50C|FAT1_uc003ize.2_Missense_Mutation_p.Y294C NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4403 Cytoplasmic (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 AATCACCTCATAGTTGGGGAA 0.483 HNSCC(5;0.00058) FAT1 2195 broad.mit.edu 37 4 187530973 187530973 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:187530973A>G uc003izf.2 - 15 10238 c.10050T>C c.(10048-10050)CTT>CTC p.L3350L NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3350 Extracellular (Potential).|Cadherin 31. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CAGACTGCTCAAGAACGGCAT 0.398 HNSCC(5;0.00058) FAT1 2195 broad.mit.edu 37 4 187628465 187628465 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:187628465A>G uc003izf.2 - 2 2705 c.2517T>C c.(2515-2517)AGT>AGC p.S839S FAT1_uc010iso.1_Silent_p.S839S NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 839 Extracellular (Potential).|Cadherin 7. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GGATGATTTCACTATGTACCT 0.453 HNSCC(5;0.00058) SLC9A3 6550 broad.mit.edu 37 5 475020 475020 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:475020C>T uc003jbe.2 - 16 2591 c.2479G>A c.(2479-2481)GCC>ACC p.A827T SLC9A3_uc011clx.1_Missense_Mutation_p.A818T|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 827 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TCGGGGAGGGCGGCGGGGGGC 0.592 ADAMTS16 170690 broad.mit.edu 37 5 5146476 5146476 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:5146476C>T uc003jdl.2 + 3 547 c.409C>T c.(409-411)CAG>TAG p.Q137* ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.Q137*|ADAMTS16_uc003jdj.1_Nonsense_Mutation_p.Q137* NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 137 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TAAGTCTGTGCAGACTTTACC 0.522 CTNND2 1501 broad.mit.edu 37 5 11159846 11159846 + Silent SNP G G A rs149766664 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:11159846G>A uc003jfa.1 - 12 2146 c.2001C>T c.(1999-2001)TGC>TGT p.C667C CTNND2_uc010itt.2_Silent_p.C576C|CTNND2_uc011cmy.1_Silent_p.C330C|CTNND2_uc011cmz.1_Silent_p.C234C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.C234C NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 667 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 TGAGTGCATCGCATGAGGAGA 0.483 DNAH5 1767 broad.mit.edu 37 5 13876895 13876895 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:13876895G>T uc003jfd.2 - 22 3336 c.3294C>A c.(3292-3294)CCC>CCA p.P1098P NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1098 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GCACGGGAATGGGTAAATTTA 0.328 Kartagener_syndrome TRIO 7204 broad.mit.edu 37 5 14378154 14378154 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:14378154G>T uc003jff.2 + 20 3371 c.3365G>T c.(3364-3366)AGG>ATG p.R1122M TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.R1073M|TRIO_uc003jfh.1_Missense_Mutation_p.R771M NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1122 Spectrin 4. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CGGGAGAACAGGGTATTGCAT 0.458 TRIO 7204 broad.mit.edu 37 5 14498693 14498693 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:14498693G>A uc003jff.2 + 53 8282 c.8276G>A c.(8275-8277)TGC>TAC p.C2759Y TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2759 Ig-like C2-type. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) ATCTACACGTGCATCGCTGTC 0.587 PRDM9 56979 broad.mit.edu 37 5 23527575 23527575 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:23527575G>A uc003jgo.2 + 11 2560 c.2378G>A c.(2377-2379)AGT>AAT p.S793N NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 793 C2H2-type 11. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AACCTCCTCAGTCACCAGAGG 0.562 HNSCC(3;0.000094) RNASEN 29102 broad.mit.edu 37 5 31449427 31449427 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:31449427C>T uc003jhg.2 - 21 3141 c.2782G>A c.(2782-2784)GGA>AGA p.G928R RNASEN_uc003jhh.2_Missense_Mutation_p.G891R|RNASEN_uc003jhi.2_Missense_Mutation_p.G891R NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 928 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TTTCTGTCTCCGTATTTGGGC 0.398 PDZD2 23037 broad.mit.edu 37 5 31983706 31983706 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:31983706C>T uc003jhl.2 + 3 1310 c.922C>T c.(922-924)CGC>TGC p.R308C PDZD2_uc003jhm.2_Missense_Mutation_p.R308C|PDZD2_uc011cnx.1_Missense_Mutation_p.R134C NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 308 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CAATGACAAACGCCGCTTCTC 0.493 TARS 6897 broad.mit.edu 37 5 33467736 33467736 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:33467736C>T uc003jhy.2 + 19 2390 c.2095C>T c.(2095-2097)CGC>TGC p.R699C TARS_uc011cob.1_Missense_Mutation_p.R687C|TARS_uc011coc.1_Missense_Mutation_p.R720C|TARS_uc003jhz.2_Missense_Mutation_p.R595C|TARS_uc011cod.1_Missense_Mutation_p.R578C NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 699 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) CCACGGGGAACGCACCATTTC 0.418 PLCXD3 345557 broad.mit.edu 37 5 41382376 41382376 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:41382376T>C uc003jmm.1 - 2 466 c.364A>G c.(364-366)AAT>GAT p.N122D NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 122 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 AGGCCTTCATTGACTTTGGCA 0.433 NNT 23530 broad.mit.edu 37 5 43659315 43659315 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:43659315G>A uc003joe.2 + 17 2752 c.2497G>A c.(2497-2499)GTC>ATC p.V833I NNT_uc003jof.2_Missense_Mutation_p.V833I NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 833 Helical; (Potential). tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) TGACATGCCCGTCGTTATCAC 0.473 PARP8 79668 broad.mit.edu 37 5 50057724 50057724 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:50057724G>A uc003jon.3 + 7 597 c.415G>A c.(415-417)GGA>AGA p.G139R PARP8_uc011cpz.1_Missense_Mutation_p.G31R|PARP8_uc003joo.2_Missense_Mutation_p.G139R|PARP8_uc003jop.2_Missense_Mutation_p.G139R NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 139 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) ATTTTATTACGGAGGGCAGGT 0.373 DHX29 54505 broad.mit.edu 37 5 54579187 54579187 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:54579187A>G uc003jpx.2 - 11 1929 c.1809T>C c.(1807-1809)ACT>ACC p.T603T DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 603 Helicase ATP-binding. 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) GTGGTACCTGAGTACTTTTAC 0.413 GCNT4 51301 broad.mit.edu 37 5 74324987 74324987 + Silent SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:74324987G>C uc003kdn.2 - 1 1738 c.876C>G c.(874-876)CCC>CCG p.P292P NM_016591 NP_057675 Q9P109 GCNT4_HUMAN core 2 beta-1,6-N-acetylglucosaminyltransferase 292 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) TGTTATGGGGGGGTGCTTCCT 0.358 HMGCR 3156 broad.mit.edu 37 5 74643031 74643031 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:74643031T>C uc003kdp.2 + 6 609 c.453T>C c.(451-453)GAT>GAC p.D151D HMGCR_uc011cst.1_Silent_p.D171D|HMGCR_uc003kdq.2_Silent_p.D151D|HMGCR_uc010izn.1_5'UTR NM_000859 NP_000850 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 151 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) TGTTTTAGGATGAAGTAAGGG 0.358 ATP6AP1L 92270 broad.mit.edu 37 5 81613882 81613882 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:81613882G>A uc003khv.2 + 10 1763 c.438G>A c.(436-438)TCG>TCA p.S146S ATP6AP1L_uc003khw.2_Silent_p.S146S NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory 146 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 CCTCCTTCTCGCCAGCTTTTC 0.537 RASA1 5921 broad.mit.edu 37 5 86645084 86645084 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:86645084T>C uc003kiw.2 + 8 1274 c.1156T>C c.(1156-1158)TAT>CAT p.Y386H RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.Y209H|RASA1_uc011ctv.1_Missense_Mutation_p.Y219H|RASA1_uc011ctw.1_Missense_Mutation_p.Y220H|RASA1_uc010jaw.2_Missense_Mutation_p.Y208H NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 386 SH2 2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TCCTGGCGATTATTCACTTTA 0.358 POLR3G 10622 broad.mit.edu 37 5 89783832 89783832 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:89783832C>T uc003kjq.2 + 3 333 c.133C>T c.(133-135)CCA>TCA p.P45S POLR3G_uc011cuc.1_Missense_Mutation_p.P45S NM_006467 NP_006458 O15318 RPC7_HUMAN polymerase (RNA) III (DNA directed) polypeptide 45 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA-directed RNA polymerase activity 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22) AGATTATAAACCAGTGCCACT 0.303 RFESD 317671 broad.mit.edu 37 5 94991908 94991908 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:94991908A>G uc003klf.2 + 5 1761 c.369A>G c.(367-369)ACA>ACG p.T123T RFESD_uc003klg.2_Silent_p.T176T|RFESD_uc011cun.1_Silent_p.T176T|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron NM_173362 NP_775498 Q8TAC1 RFESD_HUMAN Rieske (Fe-S) domain containing isoform 2 123 Rieske 2. 2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity 0 all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162) all cancers(79;5.94e-17) ACACAGTGACAGTAGACAACG 0.383 ERAP2 64167 broad.mit.edu 37 5 96239120 96239120 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:96239120T>C uc003kmq.2 + 13 2578 c.1868T>C c.(1867-1869)TTT>TCT p.F623S uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.F623S|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.F572S|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 623 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) TGGGTGAAATTTAATGTGGAC 0.398 ERAP2 64167 broad.mit.edu 37 5 96253217 96253217 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:96253217T>C uc003kmq.2 + 19 3501 c.2791T>C c.(2791-2793)TTT>CTT p.F931L uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.F931L|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.F880L|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 931 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) TCTGGATATTTTTCAAACTGT 0.313 LNPEP 4012 broad.mit.edu 37 5 96362455 96362455 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:96362455T>C uc003kmv.1 + 16 3372 c.2858T>C c.(2857-2859)GTA>GCA p.V953A LNPEP_uc003kmw.1_Missense_Mutation_p.V939A NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 953 Extracellular (Potential). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) AATAAGCTTGTACAGAAGTAA 0.378 ST8SIA4 7903 broad.mit.edu 37 5 100191913 100191913 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:100191913T>C uc003knk.2 - 4 1019 c.691A>G c.(691-693)AAA>GAA p.K231E NM_005668 NP_005659 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide 231 Lumenal (Potential). axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TCTCCTCCTTTGACCATGAAA 0.418 SLCO6A1 133482 broad.mit.edu 37 5 101834428 101834428 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:101834428A>G uc003knn.2 - 1 293 c.121T>C c.(121-123)TCC>CCC p.S41P SLCO6A1_uc003kno.2_Missense_Mutation_p.S41P|SLCO6A1_uc003knp.2_Missense_Mutation_p.S41P|SLCO6A1_uc003knq.2_Missense_Mutation_p.S41P NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 41 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GGCTTCGAGGACTTCGGGGTT 0.582 GIN1 54826 broad.mit.edu 37 5 102423850 102423850 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:102423850C>G uc003koa.1 - 8 1403 c.1321G>C c.(1321-1323)GTA>CTA p.V441L GIN1_uc003kob.1_Missense_Mutation_p.V294L|GIN1_uc003koc.1_Missense_Mutation_p.Q222H NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 441 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) TCTGCCACTACTGAACCTTGC 0.289 PPIP5K2 23262 broad.mit.edu 37 5 102519007 102519007 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:102519007A>G uc003kod.3 + 25 3514 c.2995A>G c.(2995-2997)ACT>GCT p.T999A PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.T999A|PPIP5K2_uc003kof.2_Intron NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 999 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 TGGTGTGGGTACTGGGCGTCG 0.512 FER 2241 broad.mit.edu 37 5 108294945 108294945 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:108294945G>A uc003kop.1 + 13 1937 c.1553G>A c.(1552-1554)GGC>GAC p.G518D FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.G343D NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 518 SH2. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) CGATTCGAGGGCACTGGGTTT 0.348 APC 324 broad.mit.edu 37 5 112178834 112178834 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:112178834A>G uc010jby.2 + 16 7923 c.7543A>G c.(7543-7545)ATA>GTA p.I2515V APC_uc011cvt.1_Missense_Mutation_p.I2497V|APC_uc003kpz.3_Missense_Mutation_p.I2515V|APC_uc003kpy.3_Missense_Mutation_p.I2515V|APC_uc010jbz.2_Missense_Mutation_p.I2232V|APC_uc010jca.2_Missense_Mutation_p.I1815V NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2515 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGTCCCACTATAGAGTATAA 0.453 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) FEM1C 56929 broad.mit.edu 37 5 114861055 114861055 + Nonsense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:114861055G>T uc003krb.1 - 3 1366 c.804C>A c.(802-804)TAC>TAA p.Y268* NM_020177 NP_064562 Q96JP0 FEM1C_HUMAN feminization 1 homolog a 268 TPR 1. cytoplasm breast(2)|ovary(1) 3 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) CCTTTTTCCAGTATTTCAAAG 0.398 FBN2 2201 broad.mit.edu 37 5 127670530 127670530 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:127670530T>C uc003kuu.2 - 31 4419 c.3980A>G c.(3979-3981)AAT>AGT p.N1327S FBN2_uc003kuv.2_Missense_Mutation_p.N1294S NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1327 EGF-like 21; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTCACATTCATTGACATCTAG 0.348 ADAMTS19 171019 broad.mit.edu 37 5 128977572 128977572 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:128977572A>G uc003kvb.1 + 11 1773 c.1773A>G c.(1771-1773)TTA>TTG p.L591L ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 591 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GCACAGGATTATGGTGCAAGG 0.393 RAPGEF6 51735 broad.mit.edu 37 5 130897705 130897705 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:130897705T>C uc003kvn.1 - 5 523 c.317A>G c.(316-318)GAT>GGT p.D106G RAPGEF6_uc003kvp.1_Missense_Mutation_p.D156G|RAPGEF6_uc003kvo.1_Missense_Mutation_p.D106G|RAPGEF6_uc010jdi.1_Missense_Mutation_p.D106G|RAPGEF6_uc010jdj.1_Missense_Mutation_p.D106G|RAPGEF6_uc003kvr.2_Missense_Mutation_p.D106G|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.D106G NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 106 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TACAAGACAATCACATCCTCT 0.279 AFF4 27125 broad.mit.edu 37 5 132216839 132216839 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:132216839A>C uc003kyd.2 - 21 3812 c.3404T>G c.(3403-3405)ATC>AGC p.I1135S AFF4_uc011cxk.1_Missense_Mutation_p.I813S NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 1135 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCATTAAAGATGAGAGGGCC 0.383 HSPA4 3308 broad.mit.edu 37 5 132424849 132424849 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:132424849T>C uc003kyj.2 + 10 1521 c.1240T>C c.(1240-1242)TCA>CCA p.S414P NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 414 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGAAGAAGGGTCAAGGTATCA 0.328 PHF15 23338 broad.mit.edu 37 5 133914438 133914438 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:133914438G>A uc003kzo.1 + 11 1983 c.1804G>A c.(1804-1806)GCC>ACC p.A602T PHF15_uc011cxt.1_Missense_Mutation_p.A646T|PHF15_uc003kzk.2_Missense_Mutation_p.A662T|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Missense_Mutation_p.A603T|PHF15_uc003kzn.2_3'UTR NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 602 Pro-rich. histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCGCCTGCCTGCCAAGAAGAA 0.657 DND1 373863 broad.mit.edu 37 5 140052333 140052333 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140052333C>T uc003lgt.2 - 3 345 c.301G>A c.(301-303)GCC>ACC p.A101T NM_194249 NP_919225 Q8IYX4 DND1_HUMAN dead end homolog 1 101 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCATAGGCGAAGCCGCGG 0.692 PCDHA1 56147 broad.mit.edu 37 5 140167327 140167327 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140167327G>A uc003lhb.2 + 1 1452 c.1452G>A c.(1450-1452)GCG>GCA p.A484A PCDHA1_uc003lha.2_Silent_p.A484A|PCDHA1_uc003lgz.2_Silent_p.A484A NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 484 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCGGACGCGCAGGAGAACG 0.662 PCDHA1 56147 broad.mit.edu 37 5 140167916 140167916 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140167916C>T uc003lhb.2 + 1 2041 c.2041C>T c.(2041-2043)CGG>TGG p.R681W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R681W NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 681 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGTCTTCGCGGGCGTCGGT 0.657 PCDHA8 56140 broad.mit.edu 37 5 140222665 140222665 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140222665G>A uc003lhs.2 + 1 1759 c.1759G>A c.(1759-1761)GCG>ACG p.A587T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A587T NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 587 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTGTGGGCGCGGGCCACGT 0.677 PCDHA8 56140 broad.mit.edu 37 5 140223022 140223022 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140223022G>A uc003lhs.2 + 1 2116 c.2116G>A c.(2116-2118)GCG>ACG p.A706T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A706T NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 706 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCATCTGCGCGGTATCCAG 0.657 PCDHA11 56138 broad.mit.edu 37 5 140249146 140249146 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140249146C>A uc003lia.2 + 1 1316 c.458C>A c.(457-459)CCA>CAA p.P153Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.P153Q NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 153 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCGTTTTCCACTAGAGGGA 0.443 PCDHA12 56137 broad.mit.edu 37 5 140256640 140256640 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140256640T>C uc003lic.2 + 1 1710 c.1583T>C c.(1582-1584)CTG>CCG p.L528P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.L528P NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 528 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGAGGAGCTGGAGCTGCTG 0.687 PCDHA12 56137 broad.mit.edu 37 5 140256803 140256803 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140256803G>A uc003lic.2 + 1 1873 c.1746G>A c.(1744-1746)CCG>CCA p.P582P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.P582P NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 582 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTTGGTACCGCGGTCGGTGG 0.677 PCDHB6 56130 broad.mit.edu 37 5 140531520 140531520 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140531520A>G uc003lir.2 + 1 1682 c.1682A>G c.(1681-1683)TAC>TGC p.Y561C PCDHB6_uc011dah.1_Missense_Mutation_p.Y425C NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 561 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGTGTTGTACCCGCTGCAG 0.726 PCDHB7 56129 broad.mit.edu 37 5 140554460 140554460 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140554460A>G uc003lit.2 + 1 2218 c.2044A>G c.(2044-2046)AAC>GAC p.N682D PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 682 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACCAGGCCAACTCGCTCAC 0.706 PCDHB7 56129 broad.mit.edu 37 5 140554465 140554465 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140554465G>T uc003lit.2 + 1 2223 c.2049G>T c.(2047-2049)TCG>TCT p.S683S PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 683 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCCAACTCGCTCACCGTCT 0.706 PCDHB7 56129 broad.mit.edu 37 5 140554522 140554522 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140554522G>A uc003lit.2 + 1 2280 c.2106G>A c.(2104-2106)TCG>TCA p.S702S PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 702 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTCCTCTCGGTGCTCCTGT 0.701 PCDHB8 56128 broad.mit.edu 37 5 140559519 140559519 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140559519A>G uc011dai.1 + 1 2090 c.1904A>G c.(1903-1905)GAC>GGC p.D635G PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCGAGCGCGACGCGGCCAAG 0.687 PCDHB11 56125 broad.mit.edu 37 5 140581561 140581561 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140581561C>T uc003liy.2 + 1 2214 c.2214C>T c.(2212-2214)GAC>GAT p.D738D PCDHB11_uc011daj.1_Silent_p.D373D NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 738 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCTGGTGGACGTGAGCGGCA 0.612 PCDHB14 56122 broad.mit.edu 37 5 140605248 140605248 + Missense_Mutation SNP G G A rs142658705 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140605248G>A uc003ljb.2 + 1 2171 c.2171G>A c.(2170-2172)CGC>CAC p.R724H PCDHB14_uc011dal.1_Missense_Mutation_p.R571H NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 724 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGGTGGGTCGCTGCTCGGTG 0.662 PCDHGA6 56109 broad.mit.edu 37 5 140755541 140755541 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140755541G>A uc003ljy.1 + 1 1891 c.1891G>A c.(1891-1893)GCC>ACC p.A631T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.A631T NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 631 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGCGCGCGCCCTGCTGGA 0.697 PCDHGB6 56100 broad.mit.edu 37 5 140788117 140788117 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140788117T>C uc003lkj.1 + 1 348 c.348T>C c.(346-348)ATT>ATC p.I116I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.I116I NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 116 Extracellular (Potential).|Cadherin 1. 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) CTTTAAATATTTTTCATGTCA 0.373 PCDHGC3 5098 broad.mit.edu 37 5 140857618 140857618 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140857618G>A uc003lkv.1 + 1 2050 c.1935G>A c.(1933-1935)ACG>ACA p.T645T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.T645T|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 645 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACTCTCACGGTCTTGATCA 0.557 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PCDH12 51294 broad.mit.edu 37 5 141331071 141331071 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:141331071G>T uc003llx.2 - 2 4176 c.2965C>A c.(2965-2967)CCA>ACA p.P989T NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 989 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCCTCCTGGCTTGGCCAAG 0.567 OREG0016877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RNF14 9604 broad.mit.edu 37 5 141354463 141354463 + Nonsense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:141354463T>A uc003lly.2 + 3 288 c.249T>A c.(247-249)TAT>TAA p.Y83* RNF14_uc003llz.2_Nonsense_Mutation_p.Y83*|RNF14_uc003lma.2_Nonsense_Mutation_p.Y83*|RNF14_uc003lmb.2_Intron|RNF14_uc003lmc.2_Nonsense_Mutation_p.Y83*|RNF14_uc011dbg.1_Nonsense_Mutation_p.Y83*|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Nonsense_Mutation_p.Y83* NM_183399 NP_899646 Q9UBS8 RNF14_HUMAN ring finger protein 14 isoform 1 83 RWD. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding 0 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CACCAGATTATCCATCCTCTT 0.413 POU4F3 5459 broad.mit.edu 37 5 145719546 145719546 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:145719546G>A uc003loa.2 + 2 645 c.556G>A c.(556-558)GAG>AAG p.E186K NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 186 POU-specific. sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGACCCGCGCGAGCTGGAAGC 0.682 STK32A 202374 broad.mit.edu 37 5 146750335 146750335 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:146750335T>C uc010jgn.1 + 9 1057 c.777_splice c.e9+2 p.K259_splice STK32A_uc003lom.2_Splice_Site_p.K259_splice|STK32A_uc011dbw.1_Splice_Site_p.K259_splice NM_001112724 NP_001106195 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A isoform 1 ATP binding|metal ion binding|protein serine/threonine kinase activity lung(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTAAAAAGGTAAGAAGGAAG 0.418 AFAP1L1 134265 broad.mit.edu 37 5 148687114 148687114 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:148687114C>T uc003lqh.2 + 7 816 c.685C>T c.(685-687)CGG>TGG p.R229W AFAP1L1_uc003lqg.3_Missense_Mutation_p.R229W|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R229W NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 229 PH 1. protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCTGCTGCGGAAAAAGCG 0.632 NDST1 3340 broad.mit.edu 37 5 149907475 149907475 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:149907475A>G uc003lsk.3 + 3 1125 c.623A>G c.(622-624)TAC>TGC p.Y208C NDST1_uc011dcj.1_Missense_Mutation_p.Y208C|NDST1_uc003lsl.2_Missense_Mutation_p.Y208C NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 208 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCGCTGCTCTACGTGACGCGA 0.607 SYNPO 11346 broad.mit.edu 37 5 150029196 150029196 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:150029196C>A uc003lsn.2 + 3 2465 c.2091C>A c.(2089-2091)GCC>GCA p.A697A SYNPO_uc003lso.3_Silent_p.A453A|SYNPO_uc003lsp.2_Silent_p.A453A NM_001109974 NP_001103444 Q8N3V7 SYNPO_HUMAN synaptopodin isoform B 697 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding large_intestine(1) 1 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGAGTGGGCCTCCTGCCTCA 0.687 SLC36A2 153201 broad.mit.edu 37 5 150696535 150696535 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:150696535T>C uc003lty.2 - 10 1425 c.1295A>G c.(1294-1296)TAC>TGC p.Y432C GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.Y234C NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 432 Cytoplasmic (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCCTCTGAGTAGAACGTGGT 0.647 FAT2 2196 broad.mit.edu 37 5 150948143 150948143 + Missense_Mutation SNP A A C rs34180611 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:150948143A>C uc003lue.3 - 1 363 c.350T>G c.(349-351)CTC>CGC p.L117R GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L117R NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 117 Extracellular (Potential).|Cadherin 1. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGGATGATGAGGGTGTAGCT 0.512 GABRG2 2566 broad.mit.edu 37 5 161522524 161522524 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:161522524G>A uc003lyz.3 + 3 641 c.283G>A c.(283-285)GAC>AAC p.D95N GABRG2_uc010jjc.2_Missense_Mutation_p.D95N|GABRG2_uc003lyy.3_Missense_Mutation_p.D95N|GABRG2_uc011dej.1_5'UTR NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 95 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) AATTCACACAGACATGTATGT 0.328 CCDC99 54908 broad.mit.edu 37 5 169023668 169023669 + Missense_Mutation DNP AT AT GC TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:169023668_169023669AT>GC uc003mae.3 + 8 1274_1275 c.995_996AT>GC c.(994-996)CAT>CGC p.H332R CCDC99_uc010jjj.2_Missense_Mutation_p.H261R|CCDC99_uc011deq.1_Missense_Mutation_p.H149R|CCDC99_uc010jjk.2_Missense_Mutation_p.H58R NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN coiled-coil domain containing 99 332 Potential. cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding ovary(1)|liver(1) 2 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAAATAAAACATCTTTTAGGTG 0.337 TLX3 30012 broad.mit.edu 37 5 170736470 170736470 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:170736470C>T uc003mbf.2 + 1 183 c.101C>T c.(100-102)GCC>GTC p.A34V uc003mbe.1_5'Flank NM_021025 NP_066305 O43711 TLX3_HUMAN T-cell leukemia homeobox 3 34 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGCGCACCCGCCCCGCGGGGC 0.756 T BCL11B T-ALL STC2 8614 broad.mit.edu 37 5 172750372 172750372 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:172750372C>T uc003mco.1 - 3 1666 c.356G>A c.(355-357)GGC>GAC p.G119D STC2_uc003mcn.1_Missense_Mutation_p.G34D NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 119 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCTTATGCAGCCGAACCTGTG 0.602 FAF2 23197 broad.mit.edu 37 5 175923649 175923649 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:175923649C>T uc003mej.3 + 8 877 c.824C>T c.(823-825)TCA>TTA p.S275L NM_014613 NP_055428 Q96CS3 FAF2_HUMAN UBX domain containing 8 275 Potential. response to unfolded protein endoplasmic reticulum|lipid particle protein binding ovary(1) 1 TACCTGGTGTCAGAACGCCTA 0.488 NSD1 64324 broad.mit.edu 37 5 176638979 176638979 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:176638979T>C uc003mfr.3 + 5 3717 c.3579T>C c.(3577-3579)AGT>AGC p.S1193S NSD1_uc003mft.3_Silent_p.S924S|NSD1_uc003mfs.1_Silent_p.S1090S|NSD1_uc011dfx.1_Silent_p.S841S NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1193 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TACTTCCTAGTGACCCTGTGC 0.478 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) PDLIM7 9260 broad.mit.edu 37 5 176919648 176919648 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:176919648C>T uc003mhc.1 - 3 212 c.127G>A c.(127-129)GGA>AGA p.G43R PDLIM7_uc003mha.1_5'Flank|PDLIM7_uc003mhb.1_Missense_Mutation_p.G43R|PDLIM7_uc003mhd.1_5'UTR|PDLIM7_uc003mhe.1_RNA|PDLIM7_uc003mhf.2_Missense_Mutation_p.G43R|PDLIM7_uc003mhg.1_Missense_Mutation_p.G43R NM_005451 NP_005442 Q9NR12 PDLI7_HUMAN PDZ and LIM domain 7 isoform 1 43 PDZ. cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding breast(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACGGCCACTCCGGCCTGCGCC 0.642 ZNF354A 6940 broad.mit.edu 37 5 178152390 178152390 + Silent SNP G G A rs113512483 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:178152390G>A uc003mjj.2 - 4 441 c.243C>T c.(241-243)GGC>GGT p.G81G NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 81 KRAB. regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) GAGAGGAGACGCCAGAACCGT 0.522 TBC1D9B 23061 broad.mit.edu 37 5 179321503 179321503 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:179321503C>T uc003mlh.2 - 4 497 c.460G>A c.(460-462)GAG>AAG p.E154K TBC1D9B_uc003mli.2_Missense_Mutation_p.E154K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E154K NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 154 GRAM 1. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCAGCTTCTCGCCCTCAGGC 0.592 FLT4 2324 broad.mit.edu 37 5 180057235 180057235 + Missense_Mutation SNP G G A rs148392893 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:180057235G>A uc003mma.3 - 4 582 c.503C>T c.(502-504)ACG>ATG p.T168M FLT4_uc003mlz.3_Missense_Mutation_p.T168M|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.T168M|FLT4_uc011dgz.1_Missense_Mutation_p.T168M|FLT4_uc011dha.1_Missense_Mutation_p.R152C NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 168 Ig-like C2-type 2.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CGAGCGCAGCGTGACATTGAG 0.642 Congenital_Hereditary_Lymphedema BTNL8 79908 broad.mit.edu 37 5 180338563 180338563 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:180338563A>G uc003mmp.2 + 3 856 c.622A>G c.(622-624)ATG>GTG p.M208V BTNL8_uc003mmq.2_Missense_Mutation_p.M208V|BTNL8_uc011dhg.1_Missense_Mutation_p.M83V|BTNL8_uc010jll.2_Missense_Mutation_p.M208V|BTNL8_uc010jlm.2_Missense_Mutation_p.M92V|BTNL8_uc011dhh.1_Missense_Mutation_p.M24V NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 208 Ig-like V-type 2.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATCCTGTTCCATGCGGCATGC 0.542 RREB1 6239 broad.mit.edu 37 6 7226755 7226755 + Missense_Mutation SNP G G A rs138181401 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:7226755G>A uc003mxc.2 + 9 1153 c.763G>A c.(763-765)GCG>ACG p.A255T RREB1_uc003mxb.2_Missense_Mutation_p.A255T|RREB1_uc010jnx.2_Missense_Mutation_p.A255T NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 255 C2H2-type 5. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GCGTCACAACGCGCTTGTCCA 0.493 DSP 1832 broad.mit.edu 37 6 7558359 7558359 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:7558359A>T uc003mxp.1 + 3 563 c.284A>T c.(283-285)TAT>TTT p.Y95F DSP_uc003mxq.1_Missense_Mutation_p.Y95F NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 95 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAATTGAAGTATGGAGATGGA 0.428 PHACTR1 221692 broad.mit.edu 37 6 13230285 13230285 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:13230285G>A uc010jpc.2 + 10 1583 c.1251G>A c.(1249-1251)AAG>AAA p.K417K PHACTR1_uc011dir.1_Silent_p.K486K|PHACTR1_uc003nag.1_Silent_p.K417K|PHACTR1_uc003nah.1_Silent_p.K417K NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 417 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGGCCATGAAGGTCTGCAGGA 0.532 GFOD1 54438 broad.mit.edu 37 6 13365589 13365589 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:13365589G>T uc003nat.1 - 2 1224 c.559C>A c.(559-561)CTC>ATC p.L187I GFOD1_uc003nas.1_Missense_Mutation_p.L84I NM_018988 NP_061861 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain 187 extracellular region binding|oxidoreductase activity ovary(2) 2 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) TGGCCGGTGAGGAAGGTGAGC 0.602 KIF13A 63971 broad.mit.edu 37 6 17764503 17764503 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:17764503A>T uc003ncg.3 - 39 5361 c.5256T>A c.(5254-5256)GAT>GAA p.D1752E KIF13A_uc003ncf.2_Missense_Mutation_p.D1704E|KIF13A_uc003nch.3_Missense_Mutation_p.D1717E|KIF13A_uc003nci.3_Missense_Mutation_p.D1704E|KIF13A_uc003nce.1_Missense_Mutation_p.D303E NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1752 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CAGCAGAAGAATCTGTCAAAC 0.493 KIF13A 63971 broad.mit.edu 37 6 17764689 17764689 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:17764689G>A uc003ncg.3 - 39 5175 c.5070C>T c.(5068-5070)TCC>TCT p.S1690S KIF13A_uc003ncf.2_Silent_p.S1642S|KIF13A_uc003nch.3_Silent_p.S1655S|KIF13A_uc003nci.3_Silent_p.S1642S|KIF13A_uc003nce.1_Silent_p.S241S NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1690 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) ACAGTGATTTGGAGTTTTTCT 0.522 NHLRC1 378884 broad.mit.edu 37 6 18122645 18122645 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:18122645C>T uc003ncl.1 - 1 207 c.193G>A c.(193-195)GCC>ACC p.A65T NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 65 RING-type. proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) CACTCGAGGGCCAGAGTGCGC 0.716 KDM1B 221656 broad.mit.edu 37 6 18208394 18208394 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:18208394T>C uc003nco.1 + 10 1289 c.1214T>C c.(1213-1215)GTG>GCG p.V405A KDM1B_uc003ncn.1_Missense_Mutation_p.V376A NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 608 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 GGAGATGAAGTGCAGGTTACC 0.468 TDP2 51567 broad.mit.edu 37 6 24651211 24651211 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:24651211A>G uc003nej.2 - 7 919 c.894T>C c.(892-894)GAT>GAC p.D298D TDP2_uc003nei.2_Silent_p.D186D NM_016614 NP_057698 O95551 TYDP2_HUMAN TRAF and TNF receptor-associated protein 298 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity ovary(1)|lung(1) 2 TCATTTGTGTATCCCATGTAT 0.408 Direct_reversal_of_damage|Editing_and_processing_nucleases HIST1H4A 8359 broad.mit.edu 37 6 26022123 26022123 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:26022123T>C uc003nfq.2 + 1 217 c.217T>C c.(217-219)TAT>CAT p.Y73H NM_003538 NP_003529 P62805 H4_HUMAN histone cluster 1, H4a 73 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 CGCTGTCACCTATACGGAGCA 0.587 HIST1H4G 8369 broad.mit.edu 37 6 26246947 26246947 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:26246947C>T uc003nhf.2 - 1 259 c.259G>A c.(259-261)GTG>ATG p.V87M NM_003547 NP_003538 Q99525 H4G_HUMAN histone cluster 1, H4g 87 nucleosome assembly nucleosome|nucleus DNA binding 0 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) ACGTAGACCACGGCCATGGCG 0.572 ABT1 29777 broad.mit.edu 37 6 26598259 26598259 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:26598259G>A uc003nii.2 + 2 390 c.359G>A c.(358-360)CGC>CAC p.R120H NM_013375 NP_037507 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 120 RRM. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity ovary(1) 1 ATAGCCAAGCGCGTGGCGGCC 0.567 HIST1H4I 8294 broad.mit.edu 37 6 27107159 27107159 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:27107159C>T uc003niy.1 + 1 72 c.72C>T c.(70-72)CGC>CGT p.R24R HIST1H2BK_uc003nix.1_Intron NM_003495 NP_003486 P62805 H4_HUMAN histone cluster 1, H4i 24 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 AGGTGCTGCGCGACAACATCC 0.617 T BCL6 NHL HIST1H2BK 85236 broad.mit.edu 37 6 27114460 27114460 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:27114460C>T uc003nix.1 - 1 160 c.118G>A c.(118-120)GTA>ATA p.V40I HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080593 NP_542160 O60814 H2B1K_HUMAN histone cluster 1, H2bk 40 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 TACACGTATACGGAGTAGCTC 0.582 ZKSCAN3 80317 broad.mit.edu 37 6 28333883 28333883 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:28333883T>C uc003nle.3 + 6 1654 c.1438T>C c.(1438-1440)TAT>CAT p.Y480H ZKSCAN3_uc010jrc.2_Missense_Mutation_p.Y480H|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.Y332H|uc010jrd.2_5'Flank NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 480 C2H2-type 6. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 TCCCATGTCTTATAAATGTAA 0.418 SCAND3 114821 broad.mit.edu 37 6 28540949 28540949 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:28540949C>T uc003nlo.2 - 4 3335 c.2717G>A c.(2716-2718)TGC>TAC p.C906Y NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 906 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 aatatctctgcattcatcaag 0 OR14J1 442191 broad.mit.edu 37 6 29274633 29274633 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:29274633C>A uc011dln.1 + 1 167 c.167C>A c.(166-168)CCC>CAC p.P56H NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 56 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTCCATTCCCCCATGTATTAC 0.468 TRIM39 56658 broad.mit.edu 37 6 30297302 30297302 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:30297302C>T uc010jrz.2 + 3 520 c.208C>T c.(208-210)CGA>TGA p.R70* HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Nonsense_Mutation_p.R70*|TRIM39_uc003nqb.2_Nonsense_Mutation_p.R70*|TRIM39_uc003nqc.2_Nonsense_Mutation_p.R70*|TRIM39_uc010jsa.1_Nonsense_Mutation_p.R70* NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 70 RING-type. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 TCCTGTCTGTCGAAAGACATC 0.557 HLA-E 3133 broad.mit.edu 37 6 30459108 30459108 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:30459108G>T uc003nqg.2 + 4 843 c.805G>T c.(805-807)GTG>TTG p.V269L HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.V310L NM_005516 NP_005507 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 269 Ig-like C1-type.|Alpha-3.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(4)|ovary(1) 5 GGCAGCTGTGGTGGTGCCTTC 0.627 PSORS1C2 170680 broad.mit.edu 37 6 31105997 31105997 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:31105997G>T uc003nso.3 - 2 466 c.142C>A c.(142-144)CCA>ACA p.P48T PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Intron NM_014069 NP_054788 Q9UIG4 PS1C2_HUMAN SPR1 protein precursor 48 extracellular region 0 CCGGGGACTGGGGGGCCCTGA 0.657 SLC44A4 80736 broad.mit.edu 37 6 31838664 31838664 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:31838664C>T uc010jti.2 - 10 928 c.862G>A c.(862-864)GCC>ACC p.A288T SLC44A4_uc011dol.1_Missense_Mutation_p.A212T|SLC44A4_uc011dom.1_Missense_Mutation_p.A246T NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 288 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) GAGATGGAGGCGCCCTTGTCC 0.657 SLC44A4 80736 broad.mit.edu 37 6 31838702 31838702 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:31838702T>C uc010jti.2 - 10 890 c.824A>G c.(823-825)TAC>TGC p.Y275C SLC44A4_uc011dol.1_Missense_Mutation_p.Y199C|SLC44A4_uc011dom.1_Missense_Mutation_p.Y233C NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 275 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) CTCCCAGCAGTAGTAGATGCC 0.617 CFB 629 broad.mit.edu 37 6 31916154 31916154 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:31916154G>A uc003nyj.3 + 7 1179 c.901G>A c.(901-903)GCA>ACA p.A301T CFB_uc011dor.1_Missense_Mutation_p.A803T|CFB_uc003nyi.2_Missense_Mutation_p.A301T NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 301 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 CCCACAGGTGGCAAGTTATGG 0.473 TNXB 7148 broad.mit.edu 37 6 32015707 32015707 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:32015707C>A uc003nzl.2 - 30 10324 c.10122G>T c.(10120-10122)ACG>ACT p.T3374T TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3421 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CCTCAGGGACCGTCCACGAGA 0.632 SLC39A7 7922 broad.mit.edu 37 6 33170162 33170162 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:33170162G>A uc003odf.2 + 5 874 c.757G>A c.(757-759)GCT>ACT p.A253T RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.A253T|SLC39A7_uc011dqv.1_Missense_Mutation_p.A128T|SLC39A7_uc003odh.2_5'UTR|HSD17B8_uc003odi.1_5'Flank NM_001077516 NP_001070984 Q92504 S39A7_HUMAN solute carrier family 39, member 7 253 His-rich. endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity large_intestine(1) 1 ACATGGACACGCTCACAGTCA 0.493 CPNE5 57699 broad.mit.edu 37 6 36710137 36710137 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:36710137G>A uc003omr.1 - 21 1757 c.1690C>T c.(1690-1692)CGC>TGC p.R564C CPNE5_uc003omp.1_Missense_Mutation_p.R272C|CPNE5_uc010jwn.1_Missense_Mutation_p.R214C|CPNE5_uc003omq.1_Missense_Mutation_p.R214C NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN copine V 564 skin(1) 1 GGACGCGGGCGAATGCCCTGT 0.687 KCNK5 8645 broad.mit.edu 37 6 39159204 39159204 + Missense_Mutation SNP G G A rs145388113 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:39159204G>A uc003oon.2 - 5 1326 c.962C>T c.(961-963)ACG>ATG p.T321M NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 321 Cytoplasmic (Potential). excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 GCCCGGGCCCGTCTCCCCACC 0.622 TRERF1 55809 broad.mit.edu 37 6 42236421 42236421 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:42236421G>A uc003osd.2 - 5 1471 c.908C>T c.(907-909)CCG>CTG p.P303L TRERF1_uc011duq.1_Missense_Mutation_p.P303L|TRERF1_uc003osb.2_Missense_Mutation_p.P142L|TRERF1_uc003osc.2_Missense_Mutation_p.P142L|TRERF1_uc003ose.2_Missense_Mutation_p.P303L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 303 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ctgctgTGGCGGCGGCTGTGG 0.438 TRERF1 55809 broad.mit.edu 37 6 42237177 42237177 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:42237177G>A uc003osd.2 - 5 715 c.152C>T c.(151-153)TCG>TTG p.S51L TRERF1_uc011duq.1_Missense_Mutation_p.S51L|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.S51L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 51 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGAGATTGGCGAGGCCTGAGG 0.577 KLC4 89953 broad.mit.edu 37 6 43034086 43034086 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:43034086A>G uc003otv.1 + 5 691 c.614A>G c.(613-615)TAT>TGT p.Y205C KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.Y128C|KLC4_uc003otu.2_Missense_Mutation_p.Y205C|KLC4_uc003otw.1_Missense_Mutation_p.Y223C|KLC4_uc003otx.1_Missense_Mutation_p.Y205C|KLC4_uc003oty.1_Missense_Mutation_p.Y205C|KLC4_uc003otz.1_Missense_Mutation_p.Y205C NM_201521 NP_958929 Q9NSK0 KLC4_HUMAN kinesin-like 8 isoform a 205 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding skin(3)|ovary(1) 4 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) CAGGGTGGATATGAGATCCCA 0.547 ZNF318 24149 broad.mit.edu 37 6 43325431 43325431 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:43325431G>A uc003oux.2 - 3 699 c.621C>T c.(619-621)TCC>TCT p.S207S ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 207 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) CTTCCTCCTGGGAAATATATC 0.473 GPR116 221395 broad.mit.edu 37 6 46826498 46826498 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:46826498A>G uc003oyo.3 - 17 3431 c.3142T>C c.(3142-3144)TAT>CAT p.Y1048H GPR116_uc011dwj.1_Missense_Mutation_p.Y603H|GPR116_uc011dwk.1_Missense_Mutation_p.Y477H|GPR116_uc003oyp.3_Missense_Mutation_p.Y906H|GPR116_uc003oyq.3_Missense_Mutation_p.Y1048H|GPR116_uc010jzi.1_Missense_Mutation_p.Y720H NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 1048 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) TGGCGCATATAAGAAGTCCGG 0.507 GPR115 221393 broad.mit.edu 37 6 47682692 47682692 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:47682692G>A uc003oza.1 + 6 1969 c.1711G>A c.(1711-1713)GCT>ACT p.A571T GPR115_uc003oyz.1_Missense_Mutation_p.A628T|GPR115_uc003ozb.1_Missense_Mutation_p.A569T NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 571 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 CGTCATTGTGGCTGTAAATCT 0.478 TINAG 27283 broad.mit.edu 37 6 54214656 54214656 + Missense_Mutation SNP A A G rs149134126 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:54214656A>G uc003pcj.2 + 7 1188 c.1042A>G c.(1042-1044)ATC>GTC p.I348V TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 348 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) ATCTAACAGGATCTATCAATG 0.433 BMP5 653 broad.mit.edu 37 6 55620351 55620351 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:55620351G>A uc003pcq.2 - 7 2057 c.1345C>T c.(1345-1347)CGC>TGC p.R449C BMP5_uc011dxf.1_Missense_Mutation_p.R412C NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 449 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CCACATGAGCGTACTACCATA 0.328 DST 667 broad.mit.edu 37 6 56358915 56358915 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:56358915G>A uc003pdf.2 - 77 13958 c.13930C>T c.(13930-13932)CAG>TAG p.Q4644* DST_uc003pcz.3_Nonsense_Mutation_p.Q4466*|DST_uc011dxj.1_Nonsense_Mutation_p.Q4495*|DST_uc011dxk.1_Nonsense_Mutation_p.Q4506*|DST_uc003pcy.3_Nonsense_Mutation_p.Q4140*|DST_uc003pda.3_5'Flank NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6552 Spectrin 16. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCAAGCATCTGCTGGCCTTTC 0.378 DST 667 broad.mit.edu 37 6 56362821 56362821 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:56362821A>T uc003pdf.2 - 75 13598 c.13570T>A c.(13570-13572)TCC>ACC p.S4524T DST_uc003pcz.3_Missense_Mutation_p.S4346T|DST_uc011dxj.1_Missense_Mutation_p.S4375T|DST_uc011dxk.1_Missense_Mutation_p.S4386T|DST_uc003pcy.3_Missense_Mutation_p.S4020T NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6432 Spectrin 15. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCCACTGTGGACTGATGGGCT 0.353 ZNF451 26036 broad.mit.edu 37 6 57012429 57012429 + Missense_Mutation SNP C C T rs113698145 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:57012429C>T uc003pdm.1 + 10 1770 c.1546C>T c.(1546-1548)CAC>TAC p.H516Y ZNF451_uc003pdl.2_Missense_Mutation_p.H516Y|ZNF451_uc003pdn.1_Missense_Mutation_p.H516Y|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.H516Y NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 516 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CATTCGTTTACACATGAGCCG 0.408 PRIM2 5558 broad.mit.edu 37 6 57190736 57190736 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:57190736C>T uc003pdx.2 + 5 439 c.352C>T c.(352-354)CGC>TGC p.R118C PRIM2_uc003pdv.1_Missense_Mutation_p.R118C|PRIM2_uc003pdw.2_Missense_Mutation_p.R118C NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 118 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) AGAACTTAGACGCTGGTTCAT 0.289 KHDRBS2 202559 broad.mit.edu 37 6 62604724 62604724 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:62604724G>A uc003peg.2 - 6 873 c.626C>T c.(625-627)GCC>GTC p.A209V NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) AGGAGGAATGGCACCCCCACG 0.542 FAM135A 57579 broad.mit.edu 37 6 71233735 71233735 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:71233735C>A uc003pfj.2 + 12 1302 c.1169C>A c.(1168-1170)CCC>CAC p.P390H FAM135A_uc003pfi.2_Missense_Mutation_p.P390H|FAM135A_uc003pfh.2_Missense_Mutation_p.P373H|FAM135A_uc003pfk.2_Missense_Mutation_p.P416H|FAM135A_uc003pfl.2_Missense_Mutation_p.P253H|FAM135A_uc003pfn.2_Missense_Mutation_p.P16H|FAM135A_uc003pfo.1_5'Flank NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 390 central_nervous_system(1) 1 TCTCTTCCACCCTTACCTATT 0.343 B3GAT2 135152 broad.mit.edu 37 6 71603902 71603902 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:71603902A>G uc003pfv.2 - 2 1321 c.665T>C c.(664-666)GTG>GCG p.V222A B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.V222A NM_080742 NP_542780 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 222 Lumenal (Potential). carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GCCGTTTTCCACCAGCGGACG 0.557 OGFRL1 79627 broad.mit.edu 37 6 72003284 72003284 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:72003284T>C uc003pfx.1 + 3 533 c.370T>C c.(370-372)TAT>CAT p.Y124H NM_024576 NP_078852 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 124 membrane receptor activity 0 TCTTCGTTTTTATAAGAATAA 0.299 C6orf221 154288 broad.mit.edu 37 6 74073542 74073542 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:74073542C>A uc003pgt.3 + 3 666 c.613C>A c.(613-615)CGG>AGG p.R205R NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN hypothetical protein LOC154288 205 skin(2) 2 AGTGACCCAGCGGTTTCGCGA 0.617 COL12A1 1303 broad.mit.edu 37 6 75799923 75799923 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:75799923T>C uc003phs.2 - 63 9010 c.8844A>G c.(8842-8844)GGA>GGG p.G2948G COL12A1_uc003pht.2_Silent_p.G1784G NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2948 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TACCAGGAGGTCCCGGTGGAC 0.617 COL12A1 1303 broad.mit.edu 37 6 75833999 75833999 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:75833999G>T uc003phs.2 - 41 6862 c.6696C>A c.(6694-6696)TCC>TCA p.S2232S COL12A1_uc003pht.2_Silent_p.S1068S NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2232 Fibronectin type-III 18. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TTAGCCTGTAGGAGGTGGCTG 0.368 PHIP 55023 broad.mit.edu 37 6 79675723 79675723 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:79675723C>T uc003pir.2 - 28 3482 c.3256G>A c.(3256-3258)GAA>AAA p.E1086K PHIP_uc003piq.2_Missense_Mutation_p.E110K|PHIP_uc011dyp.1_Missense_Mutation_p.E1085K|PHIP_uc003pio.3_5'UTR NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1086 Mediates interaction with IRS1 (By similarity). insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TCCTGGCTTTCGATTGTTCCA 0.418 IBTK 25998 broad.mit.edu 37 6 82883120 82883120 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:82883120T>C uc003pjl.1 - 27 4288 c.3761A>G c.(3760-3762)AAC>AGC p.N1254S IBTK_uc011dyu.1_Missense_Mutation_p.N205S|IBTK_uc011dyv.1_Missense_Mutation_p.N1239S|IBTK_uc011dyw.1_Missense_Mutation_p.N1053S|IBTK_uc010kbi.1_Missense_Mutation_p.N948S NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 1254 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TGAAATATGGTTGCCTTCTGG 0.368 DOPEY1 23033 broad.mit.edu 37 6 83847804 83847804 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:83847804A>G uc003pjs.1 + 21 4303 c.4043A>G c.(4042-4044)GAC>GGC p.D1348G DOPEY1_uc011dyy.1_Missense_Mutation_p.D1339G|DOPEY1_uc010kbl.1_Missense_Mutation_p.D1339G|DOPEY1_uc003pjt.2_RNA NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 1348 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) ATTGAGAGTGACATGGGTTCT 0.408 TBX18 9096 broad.mit.edu 37 6 85446535 85446535 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:85446535C>A uc003pkl.1 - 8 1692 c.1692G>T c.(1690-1692)ACG>ACT p.T564T TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 564 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TCTGCCGATCCGTCATGGTCC 0.522 ZNF292 23036 broad.mit.edu 37 6 87964552 87964552 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:87964552C>T uc003plm.3 + 8 1246 c.1205C>T c.(1204-1206)GCG>GTG p.A402V NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ACAGTAGATGCGTATTATGCT 0.368 ANKRD6 22881 broad.mit.edu 37 6 90312801 90312801 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:90312801C>T uc003pni.3 + 4 614 c.273C>T c.(271-273)ATC>ATT p.I91I ANKRD6_uc003pne.3_Silent_p.I91I|ANKRD6_uc003pnf.3_Silent_p.I91I|ANKRD6_uc011dzy.1_Silent_p.I91I|ANKRD6_uc010kcd.2_Silent_p.I91I|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_RNA|ANKRD6_uc003pnh.3_5'UTR NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 91 ANK 3. protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) CGGAGATCATCGCGGCGCTCA 0.612 MDN1 23195 broad.mit.edu 37 6 90380703 90380703 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:90380703T>C uc003pnn.1 - 83 14007 c.13891A>G c.(13891-13893)ACT>GCT p.T4631A NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4631 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTACGGTGAGTTGCTAAAGAC 0.537 MDN1 23195 broad.mit.edu 37 6 90394665 90394665 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:90394665T>C uc003pnn.1 - 71 11875 c.11759A>G c.(11758-11760)TAC>TGC p.Y3920C NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3920 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GAATTGCTTGTAATAATGGTA 0.408 BACH2 60468 broad.mit.edu 37 6 90659999 90659999 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:90659999C>A uc011eab.1 - 7 2635 c.1826G>T c.(1825-1827)AGG>ATG p.R609M BACH2_uc003pnw.2_Missense_Mutation_p.R609M|BACH2_uc010kch.2_Missense_Mutation_p.R609M NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 609 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CTCCTGGCCCCTGTCCTGCAC 0.537 BACH2 60468 broad.mit.edu 37 6 90660239 90660239 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:90660239G>A uc011eab.1 - 7 2395 c.1586C>T c.(1585-1587)GCG>GTG p.A529V BACH2_uc003pnw.2_Missense_Mutation_p.A529V|BACH2_uc010kch.2_Missense_Mutation_p.A529V NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 529 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCCGTCCTCCGCGTAGGAATA 0.622 SFRS18 25957 broad.mit.edu 37 6 99849046 99849046 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:99849046T>A uc003ppo.3 - 12 2016 c.1788A>T c.(1786-1788)AGA>AGT p.R596S SFRS18_uc003ppl.2_Missense_Mutation_p.R142S|SFRS18_uc003ppp.3_Missense_Mutation_p.R596S|SFRS18_uc011eag.1_Missense_Mutation_p.R596S NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 596 nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) TTCTATTAGATCTCCTTCTAT 0.423 MICAL1 64780 broad.mit.edu 37 6 109771647 109771647 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:109771647T>C uc003ptj.2 - 7 1301 c.1047A>G c.(1045-1047)CTA>CTG p.L349L MICAL1_uc003ptk.2_Silent_p.L349L|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Silent_p.L368L NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 349 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) GGGCAAACTCTAGTTTCCCGA 0.592 GPR6 2830 broad.mit.edu 37 6 110300985 110300985 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:110300985C>T uc011eaw.1 + 2 850 c.670C>T c.(670-672)CGC>TGC p.R224C GPR6_uc011eav.1_Missense_Mutation_p.R239C|GPR6_uc003ptu.2_Missense_Mutation_p.R224C NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 224 Extracellular (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) CCCGCTGGCGCGCAGCCACGT 0.701 AMD1 262 broad.mit.edu 37 6 111210137 111210137 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:111210137T>C uc003puk.1 + 3 597 c.275T>C c.(274-276)GTT>GCT p.V92A AMD1_uc011eay.1_Missense_Mutation_p.V23A|AMD1_uc011eaz.1_Missense_Mutation_p.V63A|AMD1_uc011eba.1_Intron|AMD1_uc003pul.1_Intron NM_001634 NP_001625 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 isoform 1 92 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity upper_aerodigestive_tract(1) 1 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) AAAGCACTGGTTCCCCTGTTG 0.393 ROS1 6098 broad.mit.edu 37 6 117710733 117710733 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:117710733A>G uc003pxp.1 - 12 1738 c.1539T>C c.(1537-1539)GAT>GAC p.D513D ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 513 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGACCTTGCCATCTGTGACAA 0.423 T GOPC|ROS1 glioblastoma|NSCLC GJA1 2697 broad.mit.edu 37 6 121768887 121768887 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:121768887C>T uc003pyr.2 + 2 1144 c.894C>T c.(892-894)TGC>TGT p.C298C GJA1_uc011ebo.1_Silent_p.C199C|GJA1_uc011ebp.1_Silent_p.C86C NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 298 Cytoplasmic (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) ATTCTTCTTGCCGCAATTACA 0.498 TPD52L1 7164 broad.mit.edu 37 6 125541281 125541281 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:125541281A>G uc003pzu.1 + 2 296 c.77A>G c.(76-78)GAC>GGC p.D26G TPD52L1_uc003pzv.1_Missense_Mutation_p.D26G|TPD52L1_uc003pzw.1_Missense_Mutation_p.D26G|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR NM_003287 NP_003278 Q16890 TPD53_HUMAN tumor protein D52-like 1 isoform 1 26 Potential. DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) GCCAGTGCTGACTTCTCTAGC 0.393 LAMA2 3908 broad.mit.edu 37 6 129636721 129636721 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:129636721C>T uc003qbn.2 + 25 3761 c.3656C>T c.(3655-3657)GCC>GTC p.A1219V LAMA2_uc003qbo.2_Missense_Mutation_p.A1219V NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1219 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGATTGTTGCCCACATGGAC 0.448 ARHGAP18 93663 broad.mit.edu 37 6 129959541 129959541 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:129959541T>C uc003qbr.2 - 3 639 c.550A>G c.(550-552)ACA>GCA p.T184A ARHGAP18_uc011ebw.1_Missense_Mutation_p.T184A NM_033515 NP_277050 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 184 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) AAACCTACTGTTTCTTTTGAT 0.318 EPB41L2 2037 broad.mit.edu 37 6 131179333 131179333 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:131179333C>T uc003qch.2 - 19 3143 c.2961G>A c.(2959-2961)TCG>TCA p.S987S EPB41L2_uc003qce.1_Silent_p.S365S|EPB41L2_uc003qcf.1_RNA|EPB41L2_uc003qcg.1_Silent_p.S729S|EPB41L2_uc011eby.1_Silent_p.S655S|EPB41L2_uc003qci.2_Silent_p.S834S|EPB41L2_uc010kfk.2_Silent_p.S655S|EPB41L2_uc003qcd.1_Silent_p.S148S NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 987 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCTTGTGACCGACATGTCAG 0.552 MED23 9439 broad.mit.edu 37 6 131919553 131919553 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:131919553T>G uc003qcs.1 - 20 2655 c.2481A>C c.(2479-2481)GCA>GCC p.A827A MED23_uc003qcq.2_Silent_p.A833A|MED23_uc011eca.1_Silent_p.A468A|MED23_uc003qct.1_Silent_p.A833A NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 827 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CCAGGAAATCTGCAAATGTCC 0.398 TCF21 6943 broad.mit.edu 37 6 134210668 134210668 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:134210668G>A uc003qei.3 + 1 409 c.133G>A c.(133-135)GAG>AAG p.E45K uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.E45K NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 45 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) CTCCAACTGCGAGAATGGGTC 0.592 KATNA1 11104 broad.mit.edu 37 6 149918302 149918302 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:149918302G>A uc003qmr.1 - 9 1219 c.1174C>T c.(1174-1176)CGA>TGA p.R392* KATNA1_uc003qms.2_Nonsense_Mutation_p.R392*|KATNA1_uc003qmt.2_Intron NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 392 cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) AGACTTATTCGTAATAGCTCC 0.388 PLEKHG1 57480 broad.mit.edu 37 6 151153335 151153335 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:151153335G>A uc003qny.1 + 16 3400 c.3088G>A c.(3088-3090)GCC>ACC p.A1030T PLEKHG1_uc011eel.1_Missense_Mutation_p.A1070T|PLEKHG1_uc011eem.1_Missense_Mutation_p.A1089T|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A1030T NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 1030 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AGGAGGGCCCGCCATTGGTAT 0.527 TIAM2 26230 broad.mit.edu 37 6 155498051 155498051 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:155498051A>G uc003qqb.2 + 12 3736 c.2463A>G c.(2461-2463)GGA>GGG p.G821G TIAM2_uc003qqe.2_Silent_p.G821G|TIAM2_uc010kjj.2_Silent_p.G354G|TIAM2_uc003qqf.2_Silent_p.G197G|TIAM2_uc011efl.1_Silent_p.G157G|TIAM2_uc003qqg.2_Silent_p.G133G NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 821 RBD. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) ACAATCACGGAGTTACTGTAG 0.413 TIAM2 26230 broad.mit.edu 37 6 155498077 155498077 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:155498077A>G uc003qqb.2 + 12 3762 c.2489A>G c.(2488-2490)CAC>CGC p.H830R TIAM2_uc003qqe.2_Missense_Mutation_p.H830R|TIAM2_uc010kjj.2_Missense_Mutation_p.H363R|TIAM2_uc003qqf.2_Missense_Mutation_p.H206R|TIAM2_uc011efl.1_Missense_Mutation_p.H166R|TIAM2_uc003qqg.2_Missense_Mutation_p.H142R NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 830 RBD. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AAGCCAGAGCACAGAGTAGAA 0.403 RSPH3 83861 broad.mit.edu 37 6 159404767 159404767 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:159404767T>C uc003qrx.2 - 4 1035 c.845A>G c.(844-846)GAC>GGC p.D282G RSPH3_uc010kju.2_Intron|RSPH3_uc003qry.1_Missense_Mutation_p.D282G NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog 282 ovary(1)|skin(1) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) TGGTGGTCTGTCCAAAAATGC 0.398 IGF2R 3482 broad.mit.edu 37 6 160461669 160461669 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:160461669G>A uc003qta.2 + 11 1541 c.1393G>A c.(1393-1395)GCC>ACC p.A465T NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 465 Lumenal (Potential).|3. receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CACGGAATACGCCTGTGTTAA 0.547 T 6862 broad.mit.edu 37 6 166571837 166571837 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:166571837G>A uc003quu.1 - 9 1767 c.1274C>T c.(1273-1275)GCC>GTC p.A425V T_uc003qut.1_Missense_Mutation_p.A426V|T_uc003quv.1_Missense_Mutation_p.A367V NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 425 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TGTCCATGAGGCTATGAGGCG 0.627 Chordoma_Familial_Clustering_of MLLT4 4301 broad.mit.edu 37 6 168271129 168271129 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:168271129G>A uc003qwd.2 + 3 507 c.365G>A c.(364-366)CGG>CAG p.R122Q MLLT4_uc003qwb.1_Missense_Mutation_p.R122Q|MLLT4_uc003qwc.1_Missense_Mutation_p.R122Q NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 122 Ras-associating 1. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AAAGATGATCGGGAAGGCAGA 0.393 T MLL AL MAD1L1 8379 broad.mit.edu 37 7 2108876 2108876 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:2108876C>T uc003slh.1 - 12 1437 c.1171G>A c.(1171-1173)GAG>AAG p.E391K MAD1L1_uc003sle.1_Missense_Mutation_p.E120K|MAD1L1_uc003slf.1_Missense_Mutation_p.E391K|MAD1L1_uc003slg.1_Missense_Mutation_p.E391K|MAD1L1_uc010ksh.1_Missense_Mutation_p.E391K|MAD1L1_uc003sli.1_Missense_Mutation_p.E299K|MAD1L1_uc010ksi.1_Missense_Mutation_p.E344K|MAD1L1_uc010ksj.2_Missense_Mutation_p.E391K NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 391 Necessary for interaction with NEK2.|Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GCCAGCGCCTCGTGGGTCTCG 0.657 FTSJ2 29960 broad.mit.edu 37 7 2279284 2279284 + Missense_Mutation SNP G G A rs138187457 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:2279284G>A uc003slm.2 - 2 96 c.67C>T c.(67-69)CGC>TGC p.R23C FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN FtsJ homolog 2 23 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) TTCTTGCAGCGACTCCCAACA 0.552 SNX8 29886 broad.mit.edu 37 7 2297420 2297420 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:2297420C>T uc003slw.2 - 8 977 c.934G>A c.(934-936)GAC>AAC p.D312N NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 312 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) TCCACCACGTCGTTCTCTTCC 0.592 C7orf27 221927 broad.mit.edu 37 7 2583343 2583343 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:2583343G>A uc003smi.2 - 5 726 c.684C>T c.(682-684)TGC>TGT p.C228C C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Silent_p.C228C NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 228 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) AGGGGCTCTGGCAGCGCCCGA 0.662 CARD11 84433 broad.mit.edu 37 7 2974156 2974156 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:2974156T>C uc003smv.2 - 10 1853 c.1449A>G c.(1447-1449)TCA>TCG p.S483S NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 483 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGTCTTCAGGTGACTCCTCCG 0.592 Mis DLBCL CARD11 84433 broad.mit.edu 37 7 2984023 2984023 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:2984023C>T uc003smv.2 - 5 911 c.507G>A c.(505-507)ACG>ACA p.T169T NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 169 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GCTCCACGCGCGTCAGCGTCA 0.572 Mis DLBCL RNF216 54476 broad.mit.edu 37 7 5662491 5662491 + Nonstop_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:5662491T>C uc003soy.1 - 17 2791 c.2601A>G c.(2599-2601)TGA>TGG p.*867W RNF216_uc010ksz.1_Nonstop_Mutation_p.*489W|RNF216_uc010kta.1_Nonstop_Mutation_p.*489W|RNF216_uc011jwj.1_Nonstop_Mutation_p.*489W|RNF216_uc003sox.1_Nonstop_Mutation_p.*924W NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 867 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TTCGGGGCCATCAGAAGCGAT 0.597 C7orf26 79034 broad.mit.edu 37 7 6634210 6634210 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:6634210G>A uc003sqo.1 + 3 559 c.559G>A c.(559-561)GCG>ACG p.A187T C7orf26_uc003sqp.1_Missense_Mutation_p.A168T|C7orf26_uc003sqq.1_Intron NM_024067 NP_076972 Q96N11 CG026_HUMAN hypothetical protein LOC79034 187 ovary(1) 1 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) CTCCGTTACCGCGCTCTATGA 0.463 HDAC9 9734 broad.mit.edu 37 7 18767320 18767320 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:18767320G>A uc003suh.2 + 12 1881 c.1840G>A c.(1840-1842)GCT>ACT p.A614T HDAC9_uc003sue.2_Missense_Mutation_p.A614T|HDAC9_uc011jyd.1_Missense_Mutation_p.A614T|HDAC9_uc003sui.2_Missense_Mutation_p.A617T|HDAC9_uc003suj.2_Missense_Mutation_p.A573T|HDAC9_uc003sua.1_Missense_Mutation_p.A592T|HDAC9_uc010kue.1_Missense_Mutation_p.A269T NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 614 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CTCTTCCCCTGCTGCCTCTGT 0.572 TMEM196 256130 broad.mit.edu 37 7 19765163 19765163 + Missense_Mutation SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:19765163G>C uc011jyg.1 - 3 518 c.433C>G c.(433-435)CAT>GAT p.H145D TMEM196_uc003sur.2_RNA NM_152774 NP_689987 Q5HYL7 TM196_HUMAN transmembrane protein 196 151 integral to membrane 0 TGAGAGTGATGCAGGGAATGC 0.488 NFE2L3 9603 broad.mit.edu 37 7 26217597 26217597 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:26217597T>C uc003sxq.2 + 2 877 c.605T>C c.(604-606)GTG>GCG p.V202A NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 202 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 CACGAAGCTGTGGATCATAGT 0.388 HOXA3 3200 broad.mit.edu 37 7 27150193 27150193 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:27150193C>T uc011jzl.1 - 2 267 c.67G>A c.(67-69)GGG>AGG p.G23R HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.G23R NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 23 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 TAAGCGAACCCGTTGGCTGCC 0.612 DPY19L1 23333 broad.mit.edu 37 7 35009088 35009088 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:35009088A>G uc003tem.3 - 9 897 c.752T>C c.(751-753)TTC>TCC p.F251S NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 251 Helical; (Potential). integral to membrane 0 AGGAAGCATGAAAAATACATT 0.343 C7orf10 79783 broad.mit.edu 37 7 40900065 40900065 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:40900065A>C uc003thn.1 + 14 1349 c.1304A>C c.(1303-1305)CAT>CCT p.H435P C7orf10_uc003thm.1_Missense_Mutation_p.H431P|C7orf10_uc003tho.1_Missense_Mutation_p.H387P|C7orf10_uc003thp.1_RNA NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 442 transferase activity ovary(2) 2 GTGGACCAACATGAAACTCAC 0.552 GLI3 2737 broad.mit.edu 37 7 42005281 42005281 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:42005281G>A uc011kbh.1 - 15 3481 c.3390C>T c.(3388-3390)GAC>GAT p.D1130D GLI3_uc011kbg.1_Silent_p.D1071D NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1130 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCCCGGGCGCGTCAAAGTCAC 0.642 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome NPC1L1 29881 broad.mit.edu 37 7 44579719 44579719 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:44579719C>T uc003tlb.2 - 2 333 c.277G>A c.(277-279)GCC>ACC p.A93T NPC1L1_uc003tlc.2_Missense_Mutation_p.A93T|NPC1L1_uc011kbw.1_Missense_Mutation_p.A93T|NPC1L1_uc003tld.2_Missense_Mutation_p.A93T NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 93 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) AGCTGCTTGGCGGAGCAGCAG 0.597 TBRG4 9238 broad.mit.edu 37 7 45148709 45148709 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:45148709G>A uc003tmv.2 - 2 254 c.128C>T c.(127-129)GCC>GTC p.A43V TBRG4_uc003tmu.2_5'Flank|TBRG4_uc003tmw.2_Missense_Mutation_p.A43V|TBRG4_uc003tmx.2_Missense_Mutation_p.A43V|TBRG4_uc011kcd.1_Missense_Mutation_p.A54V NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN cell cycle progression 2 protein isoform 1 43 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity 0 GGGTGAGGTGGCTGAGGAAGT 0.582 PKD1L1 168507 broad.mit.edu 37 7 47851503 47851503 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:47851503G>A uc003tny.1 - 50 7493 c.7493C>T c.(7492-7494)ACG>ATG p.T2498M C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.T225M NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2498 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GAGACTCCCCGTAGGGAGGAT 0.582 PKD1L1 168507 broad.mit.edu 37 7 47942044 47942044 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:47942044G>A uc003tny.1 - 13 1996 c.1996C>T c.(1996-1998)CAA>TAA p.Q666* NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 666 Extracellular (Potential).|PKD 2. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 ATGAAAAGTTGCTGTCTTAGA 0.522 ZNF107 51427 broad.mit.edu 37 7 64167799 64167799 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:64167799G>A uc003ttd.2 + 7 1903 c.1117G>A c.(1117-1119)GAA>AAA p.E373K ZNF107_uc003tte.2_Missense_Mutation_p.E373K NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 373 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) AAACCTTACTGAACATAAGAA 0.323 ZNF107 51427 broad.mit.edu 37 7 64168521 64168521 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:64168521T>C uc003ttd.2 + 7 2625 c.1839T>C c.(1837-1839)TGT>TGC p.C613C ZNF107_uc003tte.2_Silent_p.C613C NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 613 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) GTGAAGAATGTGGAAAAGCTT 0.343 BAZ1B 9031 broad.mit.edu 37 7 72892140 72892140 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:72892140G>A uc003tyc.2 - 7 1996 c.1651C>T c.(1651-1653)CGG>TGG p.R551W NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 551 Potential.|Lys-rich. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) AGCTCCTCCCGTTTCTTTTTC 0.388 SEMA3E 9723 broad.mit.edu 37 7 83277761 83277761 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:83277761A>G uc003uhy.1 - 1 564 c.98T>C c.(97-99)TTA>TCA p.L33S NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 33 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) TGACAGGCGTAACCGGGGGTG 0.398 ABCB1 5243 broad.mit.edu 37 7 87183250 87183250 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:87183250T>C uc003uiz.1 - 10 1246 c.828_splice c.e10-1 p.R276_splice ABCB1_uc011khc.1_Splice_Site_p.R212_splice NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTGTTGTACCTGAGAAAAAGA 0.259 C7orf63 79846 broad.mit.edu 37 7 89936277 89936277 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:89936277T>C uc010lep.2 + 20 2579 c.2328T>C c.(2326-2328)ACT>ACC p.T776T C7orf63_uc011khj.1_Silent_p.T758T|C7orf63_uc011khk.1_Silent_p.T292T NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 776 binding ovary(1) 1 GACCAGTCACTACAGATAAAA 0.294 CDK14 5218 broad.mit.edu 37 7 90747392 90747392 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:90747392T>G uc003uky.2 + 14 1529 c.1307T>G c.(1306-1308)TTT>TGT p.F436C CDK14_uc003ukz.1_Missense_Mutation_p.F418C|CDK14_uc010les.1_Missense_Mutation_p.F390C|CDK14_uc011khl.1_Missense_Mutation_p.F307C NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 436 cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 TCTTCTATTTTTACTGTCCCA 0.318 AKAP9 10142 broad.mit.edu 37 7 91645473 91645473 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:91645473A>G uc003ulg.2 + 11 3868 c.3643A>G c.(3643-3645)ACT>GCT p.T1215A AKAP9_uc003ule.2_Missense_Mutation_p.T1227A|AKAP9_uc003ulf.2_Missense_Mutation_p.T1215A|AKAP9_uc003uli.2_Missense_Mutation_p.T840A NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1227 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGAATATTATACTCCTGCTTT 0.279 T BRAF papillary thyroid SAMD9 54809 broad.mit.edu 37 7 92734173 92734173 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:92734173T>C uc003umf.2 - 3 1494 c.1238A>G c.(1237-1239)TAC>TGC p.Y413C SAMD9_uc003umg.2_Missense_Mutation_p.Y413C NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 413 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TACAAGAATGTACTGTTCATA 0.318 SAMD9L 219285 broad.mit.edu 37 7 92761679 92761679 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:92761679T>C uc003umh.1 - 5 4822 c.3606A>G c.(3604-3606)GAA>GAG p.E1202E SAMD9L_uc003umj.1_Silent_p.E1202E|SAMD9L_uc003umi.1_Silent_p.E1202E|SAMD9L_uc010lfb.1_Silent_p.E1202E|SAMD9L_uc003umk.1_Silent_p.E1202E|SAMD9L_uc010lfc.1_Silent_p.E1202E|SAMD9L_uc010lfd.1_Silent_p.E1202E|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1202 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AAAGACCAACTTCTATTTCAC 0.363 PPP1R9A 55607 broad.mit.edu 37 7 94750077 94750077 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:94750077G>A uc003unp.2 + 4 1864 c.1582G>A c.(1582-1584)GGA>AGA p.G528R PPP1R9A_uc010lfj.2_Missense_Mutation_p.G528R|PPP1R9A_uc011kif.1_Missense_Mutation_p.G528R|PPP1R9A_uc003unq.2_Missense_Mutation_p.G528R|PPP1R9A_uc011kig.1_Missense_Mutation_p.G528R NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 528 PDZ. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AGCAGATGCTGGACTTGAAAA 0.388 HNSCC(28;0.073) DYNC1I1 1780 broad.mit.edu 37 7 95726809 95726809 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:95726809C>T uc003uoc.3 + 17 2119 c.1842C>T c.(1840-1842)CAC>CAT p.H614H DYNC1I1_uc003uod.3_Silent_p.H597H|DYNC1I1_uc003uob.2_Silent_p.H577H|DYNC1I1_uc003uoe.3_Silent_p.H594H|DYNC1I1_uc010lfl.2_Silent_p.H603H NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 614 WD 7. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CAGTTCCCCACAATGATGAAT 0.468 ASNS 440 broad.mit.edu 37 7 97493592 97493592 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:97493592C>T uc003uot.3 - 4 972 c.466G>A c.(466-468)GCT>ACT p.A156T ASNS_uc011kin.1_Missense_Mutation_p.A73T|ASNS_uc003uou.3_Missense_Mutation_p.A156T|ASNS_uc003uov.3_Missense_Mutation_p.A156T|ASNS_uc011kio.1_Missense_Mutation_p.A135T|ASNS_uc003uow.3_Missense_Mutation_p.A135T|ASNS_uc003uox.3_Missense_Mutation_p.A73T NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 156 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAACATACAGCCAAAAATCCA 0.299 BAIAP2L1 55971 broad.mit.edu 37 7 97944915 97944915 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:97944915T>C uc003upj.2 - 7 759 c.496A>G c.(496-498)ACC>GCC p.T166A NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 166 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) GAAGTAACGGTCTCCACATAC 0.378 TRRAP 8295 broad.mit.edu 37 7 98533290 98533290 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:98533290C>T uc003upp.2 + 28 4312 c.4103C>T c.(4102-4104)GCG>GTG p.A1368V TRRAP_uc011kis.1_Missense_Mutation_p.A1368V|TRRAP_uc003upr.2_Missense_Mutation_p.A1060V NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1368 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTACGAATTGCGGCATTAAGT 0.393 TRRAP 8295 broad.mit.edu 37 7 98608823 98608823 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:98608823C>T uc003upp.2 + 70 11254 c.11045C>T c.(11044-11046)GCG>GTG p.A3682V TRRAP_uc011kis.1_Missense_Mutation_p.A3653V|TRRAP_uc003upr.2_Missense_Mutation_p.A3388V|TRRAP_uc003ups.2_5'Flank NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3682 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATAGGCTTCGCGGAATTCGTC 0.537 ZNF655 79027 broad.mit.edu 37 7 99170016 99170016 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:99170016A>T uc003urh.2 + 3 678 c.285A>T c.(283-285)AGA>AGT p.R95S ZNF655_uc010lga.2_Missense_Mutation_p.R130S|ZNF655_uc010lgc.2_Missense_Mutation_p.R130S|ZNF655_uc003urj.2_Missense_Mutation_p.R95S|ZNF655_uc003urk.2_5'UTR|ZNF655_uc010lgd.2_5'UTR NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 95 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) CTGAGGACAGATTAGAAAGAC 0.393 MUC17 140453 broad.mit.edu 37 7 100681299 100681299 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:100681299C>G uc003uxp.1 + 3 6655 c.6602C>G c.(6601-6603)TCT>TGT p.S2201C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2201 Extracellular (Potential).|35.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCCCGTTCATCTCCTACAACT 0.507 PMPCB 9512 broad.mit.edu 37 7 102940681 102940681 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:102940681T>G uc003vbl.2 + 4 418 c.384T>G c.(382-384)GCT>GCG p.A128A PMPCB_uc010liu.1_Silent_p.A128A|PMPCB_uc003vbk.1_Silent_p.A128A|PMPCB_uc003vbm.2_Silent_p.A37A|PMPCB_uc010liv.2_Silent_p.A34A|PMPCB_uc010liw.2_Silent_p.A37A|PMPCB_uc011kll.1_Silent_p.A23A|PMPCB_uc011klm.1_Silent_p.A3A NM_004279 NP_004270 O75439 MPPB_HUMAN mitochondrial processing peptidase beta subunit 128 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding ovary(4) 4 ATATGGGTGCTCATCTCAATG 0.378 SLC26A5 375611 broad.mit.edu 37 7 103030877 103030877 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:103030877T>C uc003vbz.2 - 12 1546 c.1310A>G c.(1309-1311)CAG>CGG p.Q437R SLC26A5_uc003vbt.1_Missense_Mutation_p.Q437R|SLC26A5_uc003vbu.1_Missense_Mutation_p.Q437R|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.Q437R|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_Intron NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 437 Cytoplasmic (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 TACACACACCTGGGGCAATGA 0.373 SLC26A5 375611 broad.mit.edu 37 7 103050937 103050937 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:103050937G>A uc003vbz.2 - 7 866 c.630C>T c.(628-630)GTC>GTT p.V210V SLC26A5_uc003vbt.1_Silent_p.V210V|SLC26A5_uc003vbu.1_Silent_p.V210V|SLC26A5_uc003vbv.1_Silent_p.V210V|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.V210V|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 210 Cytoplasmic (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 TAAACCCACGGACCAGAGGCT 0.413 MLL5 55904 broad.mit.edu 37 7 104753406 104753406 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:104753406T>C uc003vcm.2 + 27 5737 c.5203T>C c.(5203-5205)TCA>CCA p.S1735P MLL5_uc010ljc.2_Missense_Mutation_p.S1735P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.S469P NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1735 Pro-rich. 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 TCATACCACATCAGCTCAAGC 0.527 MLL5 55904 broad.mit.edu 37 7 104753622 104753622 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:104753622A>G uc003vcm.2 + 27 5953 c.5419A>G c.(5419-5421)ACT>GCT p.T1807A MLL5_uc010ljc.2_Missense_Mutation_p.T1807A|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_Missense_Mutation_p.T541A NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1807 Pro-rich. 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 TCCAACACCTACTGCTTCAGG 0.562 PNPLA8 50640 broad.mit.edu 37 7 108155211 108155211 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:108155211T>C uc003vff.1 - 4 1132 c.725A>G c.(724-726)GAA>GGA p.E242G PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.E242G|PNPLA8_uc003vfi.1_Missense_Mutation_p.E142G|PNPLA8_uc003vfj.1_Missense_Mutation_p.E242G|PNPLA8_uc003vfk.1_Missense_Mutation_p.E142G NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 242 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 TTTCCCCTCTTCTACCTTTTT 0.383 FOXP2 93986 broad.mit.edu 37 7 114268597 114268597 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:114268597G>A uc003vhb.2 + 4 635 c.261G>A c.(259-261)GTG>GTA p.V87V FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.V112V|FOXP2_uc003vha.2_5'UTR|FOXP2_uc011kmu.1_Silent_p.V87V|FOXP2_uc011kmv.1_Silent_p.V87V|FOXP2_uc010ljz.1_5'UTR|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.V87V|FOXP2_uc003vgw.2_Silent_p.V112V|FOXP2_uc003vgx.2_Silent_p.V87V|FOXP2_uc003vhd.2_Silent_p.V87V|FOXP2_uc003vhc.2_Silent_p.V112V NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 87 Gln-rich. 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 TGTGCAAGGTGCCTGTGTCAG 0.423 SLC13A1 6561 broad.mit.edu 37 7 122809232 122809232 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:122809232C>T uc003vkm.2 - 4 548 c.523G>A c.(523-525)GGA>AGA p.G175R SLC13A1_uc010lks.2_5'UTR NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 175 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) TTGGTTGATCCGTTGAAGTAA 0.473 PAX4 5078 broad.mit.edu 37 7 127255747 127255747 + Translation_Start_Site SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:127255747T>A uc010lld.1 - 1 34 c.-172A>T c.(-174--170)AAAGC>AATGC PAX4_uc003vmf.2_5'Flank|PAX4_uc003vmg.1_Intron|PAX4_uc003vmh.2_5'Flank NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CGCAAGCTGCTTTCTTTGAGA 0.602 SND1 27044 broad.mit.edu 37 7 127447559 127447559 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:127447559C>T uc003vmi.2 + 11 1400 c.1174C>T c.(1174-1176)CCC>TCC p.P392S SND1_uc010lle.2_Missense_Mutation_p.P45S NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 392 Nuclear localization signal (Potential).|TNase-like 3. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 GAAACTGCGTCCCCTGTATGA 0.353 CCDC136 64753 broad.mit.edu 37 7 128452101 128452101 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:128452101G>A uc003vnv.1 + 13 2643 c.2276G>A c.(2275-2277)CGC>CAC p.R759H CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.R575H|CCDC136_uc010llq.1_Missense_Mutation_p.R128H|CCDC136_uc003vny.1_Missense_Mutation_p.R369H NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 759 integral to membrane protein binding ovary(2) 2 GAGAACTGTCGCAAGACTTAT 0.478 FLNC 2318 broad.mit.edu 37 7 128470849 128470849 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:128470849T>C uc003vnz.3 + 1 367 c.158T>C c.(157-159)GTG>GCG p.V53A FLNC_uc003voa.3_Missense_Mutation_p.V53A NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 53 CH 1.|Actin-binding. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CTCAAGTGCGTGGGCAAGCGC 0.642 PLXNA4 91584 broad.mit.edu 37 7 131831339 131831339 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:131831339T>C uc003vra.3 - 28 5214 c.4985A>G c.(4984-4986)GAC>GGC p.D1662G PLXNA4_uc003vqz.3_5'Flank NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1662 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CTCCTTCTGGTCTCCGTGCTC 0.587 NUP205 23165 broad.mit.edu 37 7 135292023 135292023 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:135292023T>C uc003vsw.2 + 22 3130 c.3099T>C c.(3097-3099)CTT>CTC p.L1033L NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1033 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 GGACATGCCTTCACGCCATTC 0.458 CHRM2 1129 broad.mit.edu 37 7 136700105 136700105 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:136700105A>T uc003vtf.1 + 4 1116 c.493A>T c.(493-495)ATT>TTT p.I165F CHRM2_uc003vtg.1_Missense_Mutation_p.I165F|CHRM2_uc003vtj.1_Missense_Mutation_p.I165F|CHRM2_uc003vtk.1_Missense_Mutation_p.I165F|CHRM2_uc003vtl.1_Missense_Mutation_p.I165F|CHRM2_uc003vtm.1_Missense_Mutation_p.I165F|CHRM2_uc003vti.1_Missense_Mutation_p.I165F|CHRM2_uc003vto.1_Missense_Mutation_p.I165F|CHRM2_uc003vtn.1_Missense_Mutation_p.I165F|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 165 Extracellular (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CTGGCAGTTCATTGTAGGGGT 0.507 SVOPL 136306 broad.mit.edu 37 7 138312947 138312947 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:138312947G>A uc011kqh.1 - 10 1025 c.1025C>T c.(1024-1026)TCT>TTT p.S342F SVOPL_uc003vue.2_Missense_Mutation_p.S190F NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 342 integral to membrane transmembrane transporter activity 0 CCGATAGTCAGAGGGTGCAAA 0.552 JHDM1D 80853 broad.mit.edu 37 7 139826486 139826486 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:139826486T>A uc003vvm.2 - 6 843 c.839A>T c.(838-840)GAT>GTT p.D280V NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 280 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) AATGTGGAAATCTGTATAGCT 0.403 KIAA1147 57189 broad.mit.edu 37 7 141365032 141365032 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:141365032C>T uc003vwk.2 - 6 907 c.907G>A c.(907-909)GTG>ATG p.V303M NM_001080392 NP_001073861 A4D1U4 LCHN_HUMAN hypothetical protein LOC57189 303 ovary(1) 1 Melanoma(164;0.0171) ATGTCAGCCACGTTCACGTAG 0.597 WEE2 494551 broad.mit.edu 37 7 141408668 141408668 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:141408668C>T uc003vwn.2 + 1 516 c.110C>T c.(109-111)TCG>TTG p.S37L FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 37 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) AGGGAGGCTTCGAGCCAAACC 0.468 OR2F2 135948 broad.mit.edu 37 7 143632813 143632813 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:143632813C>G uc011ktv.1 + 1 488 c.488C>G c.(487-489)ACC>AGC p.T163S NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) ACTGCTATCACCTTTCAGCTG 0.522 CUL1 8454 broad.mit.edu 37 7 148464776 148464776 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:148464776T>G uc010lpg.2 + 9 1544 c.1018T>G c.(1018-1020)TTG>GTG p.L340V CUL1_uc003wey.2_Missense_Mutation_p.L340V|CUL1_uc003wez.2_Missense_Mutation_p.L230V NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 340 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) GAAAAAACTGTTGGAGACACA 0.393 ABP1 26 broad.mit.edu 37 7 150554663 150554663 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:150554663A>G uc003why.1 + 3 5323 c.1105A>G c.(1105-1107)ACC>GCC p.T369A ABP1_uc003whz.1_Missense_Mutation_p.T369A|ABP1_uc003wia.1_Missense_Mutation_p.T369A NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 369 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) AGGCATGCAGACCAAGTACCT 0.622 ACCN3 9311 broad.mit.edu 37 7 150747861 150747861 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:150747861C>T uc003win.2 + 4 1198 c.830C>T c.(829-831)CCG>CTG p.P277L ACCN3_uc003wio.2_Missense_Mutation_p.P277L|ACCN3_uc003wip.2_Missense_Mutation_p.P277L|ACCN3_uc003wiq.2_RNA NM_004769 NP_004760 Q9UHC3 ACCN3_HUMAN amiloride-sensitive cation channel 3 isoform a 277 Extracellular (Potential). sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity p.P277S(1) ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCCTGCCACCGCCCTGGGGC 0.557 MLL3 58508 broad.mit.edu 37 7 151891595 151891595 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:151891595A>G uc003wla.2 - 29 4656 c.4437T>C c.(4435-4437)AGT>AGC p.S1479S MLL3_uc003wkz.2_Silent_p.S540S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1479 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) ATGGTCGTGAACTCTGATTGA 0.393 N medulloblastoma HTR5A 3361 broad.mit.edu 37 7 154863162 154863162 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:154863162T>C uc003wlu.1 + 1 617 c.553T>C c.(553-555)TAC>CAC p.Y185H uc011kvt.1_5'UTR|uc003wlt.2_5'UTR NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 185 Extracellular (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GGGAGAGACGTACTCTGAGGG 0.632 NOM1 64434 broad.mit.edu 37 7 156745292 156745292 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:156745292G>T uc003wmy.2 + 2 1127 c.1112G>T c.(1111-1113)AGG>ATG p.R371M NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 371 MIF4G. RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CTACTTAACAGGTGACCTTGT 0.413 WDR60 55112 broad.mit.edu 37 7 158711457 158711457 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:158711457T>C uc003woe.3 + 15 1976 c.1818T>C c.(1816-1818)GAT>GAC p.D606D WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.D238D NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 606 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TGGAAGAGGATCGCTTGGCAG 0.428 ZNF596 169270 broad.mit.edu 37 8 195403 195403 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:195403A>C uc003wot.2 + 6 844 c.556A>C c.(556-558)AGT>CGT p.S186R ZNF596_uc003wou.2_Missense_Mutation_p.S85R|ZNF596_uc003wov.2_Missense_Mutation_p.S186R|ZNF596_uc003wow.2_Missense_Mutation_p.S186R NM_173539 NP_775810 Q8TC21 ZN596_HUMAN zinc finger protein 596 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) TAGACCACACAGTGTGACTCA 0.378 DLGAP2 9228 broad.mit.edu 37 8 1649527 1649527 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:1649527G>A uc003wpl.2 + 12 2980 c.2883G>A c.(2881-2883)GCG>GCA p.A961A DLGAP2_uc003wpm.2_Silent_p.A947A NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 1040 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCGAGCGCGCGGACAGCATCG 0.701 MYOM2 9172 broad.mit.edu 37 8 2044108 2044108 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:2044108G>A uc003wpx.3 + 18 2285 c.2147G>A c.(2146-2148)GGG>GAG p.G716E MYOM2_uc011kwi.1_Missense_Mutation_p.G141E NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 716 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CATCCTTATGGGATTACGCTC 0.617 MFHAS1 9258 broad.mit.edu 37 8 8749149 8749149 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:8749149T>C uc003wsj.1 - 1 1983 c.1420A>G c.(1420-1422)ATC>GTC p.I474V NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 474 Roc. 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TCATACACGATGAACCGCAGG 0.602 PSD3 23362 broad.mit.edu 37 8 18729499 18729499 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:18729499C>T uc003wza.2 - 3 978 c.875G>A c.(874-876)CGC>CAC p.R292H NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 292 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CCGGCCTGGGCGTCCCATGGA 0.527 LZTS1 11178 broad.mit.edu 37 8 20110461 20110461 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:20110461C>T uc003wzr.2 - 2 1092 c.981G>A c.(979-981)GCG>GCA p.A327A LZTS1_uc010ltg.1_Silent_p.A327A NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 327 Potential. cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GGACCTGCTGCGCGCGCTGGC 0.677 LZTS1 11178 broad.mit.edu 37 8 20110845 20110845 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:20110845G>T uc003wzr.2 - 2 708 c.597C>A c.(595-597)CCC>CCA p.P199P LZTS1_uc010ltg.1_Silent_p.P199P NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 199 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TGGGTCCCACGGGTGTGACCA 0.632 XPO7 23039 broad.mit.edu 37 8 21835279 21835279 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:21835279A>G uc003xaa.3 + 8 866 c.764_splice c.e8-2 p.A255_splice XPO7_uc010lti.2_Splice_Site_p.A264_splice|XPO7_uc010ltk.2_Splice_Site_p.A256_splice NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TTTCTTCCCCAGCCTTCTTAG 0.428 XPO7 23039 broad.mit.edu 37 8 21846547 21846547 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:21846547A>G uc003xaa.3 + 16 1923 c.1821A>G c.(1819-1821)GAA>GAG p.E607E XPO7_uc010lti.2_Silent_p.E616E|XPO7_uc010ltk.2_Silent_p.E608E NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 607 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) GCCGTTGTGAACCAATCACCT 0.458 HR 55806 broad.mit.edu 37 8 21973915 21973915 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:21973915G>A uc003xas.2 - 18 4070 c.3405C>T c.(3403-3405)AGC>AGT p.S1135S HR_uc003xat.2_Silent_p.S1080S NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 1135 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GCTGAGTGACGCTGACTGTGC 0.627 TNFRSF10A 8797 broad.mit.edu 37 8 23058108 23058108 + Nonsense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:23058108C>A uc003xda.2 - 6 774 c.709G>T c.(709-711)GGA>TGA p.G237* NM_003844 NP_003835 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, 237 Extracellular (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding central_nervous_system(3)|ovary(2)|skin(1) 6 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) ATATTATGTCCATTGCCTGAG 0.512 ADAM7 8756 broad.mit.edu 37 8 24323272 24323272 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:24323272A>G uc003xeb.2 + 5 486 c.373A>G c.(373-375)ACG>GCG p.T125A ADAM7_uc003xea.1_Missense_Mutation_p.T125A NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 125 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAGTATCAGTACGTGTAATGG 0.299 DOCK5 80005 broad.mit.edu 37 8 25154129 25154129 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:25154129T>C uc003xeg.2 + 7 708 c.571T>C c.(571-573)TCC>CCC p.S191P DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.2_Missense_Mutation_p.S191P NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 191 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TGAGGTGGCCTCCAAAAGGAT 0.468 GNRH1 2796 broad.mit.edu 37 8 25280721 25280721 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:25280721A>G uc003xem.3 - 2 967 c.126T>C c.(124-126)ATT>ATC p.I42I PPP2R2A_uc003xek.2_Intron|GNRH1_uc003xen.3_Silent_p.I42I NM_001083111 NP_001076580 P01148 GON1_HUMAN gonadotropin-releasing hormone 1 precursor 42 cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction soluble fraction gonadotropin hormone-releasing hormone activity large_intestine(1) 1 all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385) GGAAAGAATCAATCAAATTTT 0.423 CDCA2 157313 broad.mit.edu 37 8 25364904 25364904 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:25364904A>G uc003xep.1 + 15 3201 c.2722A>G c.(2722-2724)ATT>GTT p.I908V PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.I893V|CDCA2_uc003xer.1_Missense_Mutation_p.I571V NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 908 cell division|mitosis cytoplasm|nucleus 0 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TCTTGTATGGATTTCACTTCC 0.403 PTK2B 2185 broad.mit.edu 37 8 27287640 27287640 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:27287640A>G uc003xfn.1 + 11 1390 c.582A>G c.(580-582)GCA>GCG p.A194A PTK2B_uc003xfo.1_Silent_p.A194A|PTK2B_uc003xfp.1_Silent_p.A194A|PTK2B_uc003xfq.1_Silent_p.A194A|PTK2B_uc010luq.1_5'Flank|PTK2B_uc003xfr.1_5'Flank NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 194 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CCCACAATGCACTTGACAAGA 0.537 EXTL3 2137 broad.mit.edu 37 8 28575031 28575031 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:28575031G>A uc003xgz.1 + 3 2048 c.1455G>A c.(1453-1455)GTG>GTA p.V485V NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 485 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CCCTGGTGGTGCCAAAGCCTC 0.617 TEX15 56154 broad.mit.edu 37 8 30702068 30702068 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:30702068T>G uc003xil.2 - 1 4466 c.4466A>C c.(4465-4467)TAC>TCC p.Y1489S NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1489 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTGATTTTTGTACTCAGTATT 0.333 WHSC1L1 54904 broad.mit.edu 37 8 38205098 38205098 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:38205098T>C uc003xli.2 - 2 1110 c.592A>G c.(592-594)AAA>GAA p.K198E WHSC1L1_uc011lbm.1_Missense_Mutation_p.K198E|WHSC1L1_uc010lwe.2_Missense_Mutation_p.K198E|WHSC1L1_uc003xlj.2_Missense_Mutation_p.K198E NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 198 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TTGCTTTTTTTCCTCTTTTCT 0.393 T NUP98 AML PRKDC 5591 broad.mit.edu 37 8 48740750 48740750 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:48740750T>C uc003xqi.2 - 63 8613 c.8556A>G c.(8554-8556)CCA>CCG p.P2852P PRKDC_uc003xqj.2_Silent_p.P2852P|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2852 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGACAAAGGGTGGAAAGAAAG 0.368 NHEJ PRKDC 5591 broad.mit.edu 37 8 48761849 48761849 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:48761849C>T uc003xqi.2 - 55 7203 c.7146G>A c.(7144-7146)GTG>GTA p.V2382V PRKDC_uc003xqj.2_Silent_p.V2382V|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2382 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCAGAAAGAACACAGCATTCA 0.527 NHEJ MCM4 4173 broad.mit.edu 37 8 48888391 48888391 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:48888391C>T uc003xqk.1 + 16 2577 c.2482C>T c.(2482-2484)CGG>TGG p.R828W MCM4_uc003xql.1_Missense_Mutation_p.R828W|MCM4_uc011ldi.1_Missense_Mutation_p.R815W NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 828 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|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TGAAGATATTCGGGGACAATC 0.308 ST18 9705 broad.mit.edu 37 8 53126792 53126792 + Missense_Mutation SNP G G A rs145495470 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:53126792G>A uc003xqz.2 - 2 182 c.26C>T c.(25-27)ACG>ATG p.T9M ST18_uc011ldq.1_Translation_Start_Site|ST18_uc011ldr.1_Translation_Start_Site|ST18_uc011lds.1_Translation_Start_Site|ST18_uc003xra.2_Missense_Mutation_p.T9M|ST18_uc003xrb.2_Missense_Mutation_p.T9M|ST18_uc010lyb.2_RNA NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 9 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGTACGCAGCGTTTTATCTTC 0.428 RB1CC1 9821 broad.mit.edu 37 8 53569170 53569170 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:53569170T>C uc003xre.3 - 15 3777 c.3219A>G c.(3217-3219)GAA>GAG p.E1073E RB1CC1_uc003xrf.3_Silent_p.E1073E NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 1073 Potential. autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) AAATTTTTATTTCATCAGTTT 0.368 TGS1 96764 broad.mit.edu 37 8 56699432 56699432 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:56699432A>G uc003xsj.3 + 4 1362 c.975A>G c.(973-975)AAA>AAG p.K325K TGS1_uc010lyh.2_Silent_p.K229K NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 325 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) GTAACATAAAACTGAATTCAG 0.363 FAM110B 90362 broad.mit.edu 37 8 59059811 59059811 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:59059811G>A uc003xtj.1 + 5 1902 c.1022G>A c.(1021-1023)GGC>GAC p.G341D NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 341 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GTGCCGTATGGCATTTCTGCC 0.468 NSMAF 8439 broad.mit.edu 37 8 59502072 59502072 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:59502072A>G uc003xtt.2 - 26 2364 c.2150T>C c.(2149-2151)GTT>GCT p.V717A NSMAF_uc011lee.1_Missense_Mutation_p.V748A NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 717 WD 3. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) GATCTTACTAACAGCATCATC 0.368 TOX 9760 broad.mit.edu 37 8 59739434 59739434 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:59739434T>C uc003xtw.1 - 6 1173 c.952A>G c.(952-954)AAG>GAG p.K318E NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 318 HMG box. nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TACTCCTTCTTCGCAGCCTCG 0.423 CHD7 55636 broad.mit.edu 37 8 61654743 61654743 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:61654743A>G uc003xue.2 + 2 1229 c.752A>G c.(751-753)CAC>CGC p.H251R NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 251 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) TCCTTGCGTCACTCGGTGCAG 0.587 BHLHE22 27319 broad.mit.edu 37 8 65494211 65494211 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:65494211C>T uc003xvi.2 + 1 1398 c.864C>T c.(862-864)CTC>CTT p.L288L LOC401463_uc003xvh.2_Intron NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix domain containing, class 288 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 CGCTGCTGCTCGCCAAGAACT 0.667 C8orf46 254778 broad.mit.edu 37 8 67405952 67405952 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:67405952G>T uc003xwg.2 + 1 462 c.69G>T c.(67-69)AAG>AAT p.K23N C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.K23N NM_152765 NP_689978 Q8TAG6 CH046_HUMAN hypothetical protein LOC254778 23 skin(2) 2 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TTCCTTCCAAGGGTGAGTGAA 0.498 C8orf45 157777 broad.mit.edu 37 8 67796162 67796162 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:67796162C>T uc003xwz.3 + 9 1177 c.1006C>T c.(1006-1008)CGT>TGT p.R336C C8orf45_uc003xwv.2_Missense_Mutation_p.R336C|C8orf45_uc011lev.1_Missense_Mutation_p.R336C|C8orf45_uc011lew.1_Missense_Mutation_p.R267C|C8orf45_uc011lex.1_Missense_Mutation_p.R94C|C8orf45_uc003xwy.3_Missense_Mutation_p.R336C NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 336 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) GACAACTGACCGTAACAAGGA 0.353 C8orf45 157777 broad.mit.edu 37 8 67803170 67803170 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:67803170A>G uc003xwz.3 + 10 1315 c.1144A>G c.(1144-1146)ACT>GCT p.T382A C8orf45_uc011lev.1_Missense_Mutation_p.T382A|C8orf45_uc011lew.1_Missense_Mutation_p.T313A|C8orf45_uc011lex.1_Missense_Mutation_p.T140A|C8orf45_uc003xwy.3_Missense_Mutation_p.T382A NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 382 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) AATTTTTCCCACTCTATCCAG 0.408 LRRC67 286187 broad.mit.edu 37 8 67922971 67922971 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:67922971G>A uc003xxc.2 - 5 676 c.531C>T c.(529-531)GAC>GAT p.D177D NM_001013626 NP_001013648 Q7Z4L9 LRC67_HUMAN leucine rich repeat containing 67 177 LRR 7. 0 GAAGTTGGTTGTCAACGGCTA 0.279 SLCO5A1 81796 broad.mit.edu 37 8 70744467 70744467 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:70744467A>G uc003xyl.2 - 2 1149 c.442T>C c.(442-444)TAC>CAC p.Y148H SLCO5A1_uc010lzb.2_Missense_Mutation_p.Y148H|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.Y148H|SLCO5A1_uc010lzc.2_Missense_Mutation_p.Y148H NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 148 Helical; Name=1; (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) CTGCTCAGGTACCCAGAGACC 0.552 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TRPA1 8989 broad.mit.edu 37 8 72967924 72967924 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:72967924G>A uc003xza.2 - 11 1536 c.1361C>T c.(1360-1362)GCC>GTC p.A454V NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 454 ANK 11.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CCCTTACCTGGCTGCAAAATG 0.383 TRPA1 8989 broad.mit.edu 37 8 72981394 72981394 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:72981394T>C uc003xza.2 - 3 483 c.308A>G c.(307-309)CAT>CGT p.H103R NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 103 Cytoplasmic (Potential).|ANK 2. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TACAGCACAATGCAGAGGGGT 0.393 KCNB2 9312 broad.mit.edu 37 8 73849583 73849583 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:73849583G>T uc003xzb.2 + 3 2581 c.1993G>T c.(1993-1995)GGC>TGC p.G665C NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 665 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TGCCAGGGATGGCACGCTGGA 0.562 PI15 51050 broad.mit.edu 37 8 75737657 75737657 + Missense_Mutation SNP G G A rs141788887 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:75737657G>A uc003yal.2 + 2 352 c.173G>A c.(172-174)CGG>CAG p.R58Q uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.R58Q NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 58 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) AAAGCCAGGCGGAAGCGCTAC 0.448 ZFHX4 79776 broad.mit.edu 37 8 77768496 77768496 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:77768496C>T uc003yav.2 + 10 9591 c.9204C>T c.(9202-9204)AAC>AAT p.N3068N ZFHX4_uc003yau.1_Silent_p.N3113N|ZFHX4_uc003yaw.1_Silent_p.N3068N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3068 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCGGAATGAACGGTCCATCCT 0.517 HNSCC(33;0.089) PEX2 5828 broad.mit.edu 37 8 77896243 77896243 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:77896243C>T uc003yax.2 - 4 630 c.172G>A c.(172-174)GCG>ACG p.A58T PEX2_uc003yay.2_Missense_Mutation_p.A58T|PEX2_uc003yaz.2_Missense_Mutation_p.A58T NM_000318 NP_000309 P28328 PEX2_HUMAN peroxin 2 58 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding ovary(1) 1 CATAAGCACGCTTTCACCTCT 0.438 WWP1 11059 broad.mit.edu 37 8 87393036 87393036 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:87393036C>T uc003ydt.2 + 4 432 c.152C>T c.(151-153)ACG>ATG p.T51M WWP1_uc010mai.2_Translation_Start_Site NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 51 C2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 GGAGAAATTACGAAAACAGCA 0.343 CNGB3 54714 broad.mit.edu 37 8 87591466 87591466 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:87591466C>G uc003ydx.2 - 16 1842 c.1796G>C c.(1795-1797)GGA>GCA p.G599A CNGB3_uc010maj.2_Missense_Mutation_p.G456A NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 599 Cytoplasmic (Potential).|cGMP (By similarity). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 GTTTCCTCCTCCTGCTGCTAG 0.413 RIPK2 8767 broad.mit.edu 37 8 90784971 90784971 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:90784971A>G uc003yee.2 + 6 1082 c.768A>G c.(766-768)CCA>CCG p.P256P RIPK2_uc003yef.2_Silent_p.P119P NM_003821 NP_003812 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 256 Protein kinase. activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.0474) AAAGTTTGCCATATGATATAC 0.363 CDH17 1015 broad.mit.edu 37 8 95142918 95142918 + Missense_Mutation SNP G G T rs141222335 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:95142918G>T uc003ygh.2 - 17 2459 c.2334C>A c.(2332-2334)CAC>CAA p.H778Q CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.H778Q NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 778 Extracellular (Potential). integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TCCCAGTCTGGTGACCTGCTG 0.448 RAD54B 25788 broad.mit.edu 37 8 95384421 95384421 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:95384421T>C uc003ygk.2 - 15 2808 c.2710A>G c.(2710-2712)ACC>GCC p.T904A NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) GCTTGAGTGGTTATATTCTGA 0.299 Direct_reversal_of_damage|Homologous_recombination ESRP1 54845 broad.mit.edu 37 8 95680231 95680231 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:95680231G>A uc003ygq.3 + 10 1169 c.986G>A c.(985-987)CGC>CAC p.R329H ESRP1_uc003ygr.3_Missense_Mutation_p.R329H|ESRP1_uc003ygs.3_Missense_Mutation_p.R329H|ESRP1_uc003ygt.3_Missense_Mutation_p.R329H|ESRP1_uc003ygu.3_Missense_Mutation_p.R329H|ESRP1_uc003ygv.2_Missense_Mutation_p.R169H|ESRP1_uc003ygw.2_Missense_Mutation_p.R169H NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 329 RRM 2. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 GTCATTGTCCGCATGCGGGGG 0.488 DPY19L4 286148 broad.mit.edu 37 8 95800209 95800209 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:95800209G>A uc003ygx.2 + 18 2060 c.1936G>A c.(1936-1938)GCT>ACT p.A646T NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 646 integral to membrane ovary(2) 2 Breast(36;3.85e-06) TGTAGAGGATGCTATCTGCAA 0.348 POP1 10940 broad.mit.edu 37 8 99170251 99170251 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:99170251C>A uc003yij.3 + 16 2927 c.2827C>A c.(2827-2829)CTG>ATG p.L943M POP1_uc011lgv.1_Missense_Mutation_p.L943M|POP1_uc003yik.2_Missense_Mutation_p.L943M NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 943 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) GCAGGAAGCTCTGACTCTAGG 0.493 KCNS2 3788 broad.mit.edu 37 8 99440298 99440298 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:99440298C>T uc003yin.2 + 2 441 c.91C>T c.(91-93)CGC>TGC p.R31C NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 31 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GAGGAGGCTGCGCTCGCACAC 0.647 VPS13B 157680 broad.mit.edu 37 8 100108587 100108587 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:100108587T>C uc003yiv.2 + 4 450 c.339T>C c.(337-339)GCT>GCC p.A113A VPS13B_uc003yiw.2_Silent_p.A113A|VPS13B_uc003yit.2_Silent_p.A113A|VPS13B_uc003yiu.1_Silent_p.A113A|VPS13B_uc003yis.2_Silent_p.A113A|VPS13B_uc011lgy.1_5'UTR NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 113 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) GTAGTACTGCTGAGAGCACAA 0.393 VPS13B 157680 broad.mit.edu 37 8 100133550 100133550 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:100133550T>C uc003yiv.2 + 8 1194 c.1083T>C c.(1081-1083)GAT>GAC p.D361D VPS13B_uc003yiw.2_Silent_p.D361D|VPS13B_uc003yit.2_Silent_p.D361D|VPS13B_uc003yiu.1_Silent_p.D361D|VPS13B_uc003yis.2_Silent_p.D361D|VPS13B_uc011lgy.1_Silent_p.D237D NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 361 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) GTTATGACGATGGCGAGGAAG 0.443 UBR5 51366 broad.mit.edu 37 8 103292631 103292631 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:103292631T>C uc003ykr.1 - 42 6025 c.5992A>G c.(5992-5994)ACC>GCC p.T1998A UBR5_uc003yks.1_Missense_Mutation_p.T1998A NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1998 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) CTTTGATTGGTGTCATCATCA 0.358 SYBU 55638 broad.mit.edu 37 8 110656869 110656869 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:110656869C>T uc003ynj.3 - 1 183 c.20G>A c.(19-21)AGC>AAC p.S7N SYBU_uc003yni.3_5'Flank|SYBU_uc003ynk.3_5'UTR|SYBU_uc010mco.2_Missense_Mutation_p.S7N|SYBU_uc003ynl.3_Missense_Mutation_p.S7N|SYBU_uc010mcp.2_Missense_Mutation_p.S7N|SYBU_uc010mcq.2_Missense_Mutation_p.S7N|SYBU_uc003yno.3_Intron|SYBU_uc010mcr.2_Missense_Mutation_p.S7N|SYBU_uc003ynm.3_Missense_Mutation_p.S7N|SYBU_uc003ynn.3_Missense_Mutation_p.S7N|SYBU_uc010mcs.2_Intron|SYBU_uc010mct.2_Missense_Mutation_p.S7N|SYBU_uc010mcu.2_Missense_Mutation_p.S7N|SYBU_uc003ynp.3_Intron|SYBU_uc010mcv.2_Missense_Mutation_p.S7N|uc003ynq.1_Intron NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 7 Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 CCTTACCTTGCTCTCGCGGAG 0.736 TRPS1 7227 broad.mit.edu 37 8 116430589 116430589 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:116430589T>C uc003ynz.2 - 5 3212 c.2753A>G c.(2752-2754)AAC>AGC p.N918S TRPS1_uc011lhy.1_Missense_Mutation_p.N922S|TRPS1_uc003yny.2_Missense_Mutation_p.N931S|TRPS1_uc010mcy.2_Missense_Mutation_p.N918S NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 918 GATA-type. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GCCACACGCGTTGCATACATA 0.483 Langer-Giedion_syndrome TAF2 6873 broad.mit.edu 37 8 120795639 120795639 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:120795639A>G uc003you.2 - 16 2364 c.2094T>C c.(2092-2094)GCT>GCC p.A698A NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 698 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) GACAGAAGCAAGCTGACATTC 0.353 TAF2 6873 broad.mit.edu 37 8 120818521 120818521 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:120818521A>G uc003you.2 - 4 688 c.418_splice c.e4+1 p.E140_splice NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 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) TTGGTGCTTTACCATCAACGT 0.368 SNTB1 6641 broad.mit.edu 37 8 121554212 121554212 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:121554212A>G uc010mdg.2 - 6 1588 c.1362T>C c.(1360-1362)CGT>CGC p.R454R NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 454 muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) GTATGGTCAAACGGCACTCCT 0.418 HAS2 3037 broad.mit.edu 37 8 122641434 122641434 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:122641434A>G uc003yph.2 - 2 685 c.147T>C c.(145-147)TAT>TAC p.Y49Y NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 49 Helical; Name=2; (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AAAAGGCACCATACAGTCCAA 0.413 ZHX2 22882 broad.mit.edu 37 8 123964129 123964129 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:123964129G>A uc003ypk.1 + 3 946 c.379G>A c.(379-381)GAC>AAC p.D127N NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 127 C2H2-type 2. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CTCCCTATCCGACCACAACTC 0.478 FAM83A 84985 broad.mit.edu 37 8 124204041 124204041 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:124204041A>G uc003ypv.2 + 3 2495 c.481_splice c.e3-2 p.V161_splice FAM83A_uc003ypw.2_Splice_Site_p.V161_splice|FAM83A_uc003ypy.2_Intron|FAM83A_uc003ypx.2_Splice_Site_p.V161_splice|FAM83A_uc003ypz.2_Splice_Site_p.V161_splice NM_032899 NP_116288 Q86UY5 FA83A_HUMAN hypothetical protein LOC84985 isoform a ovary(3)|skin(1) 4 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GCCCTGGCCCAGGTCCTGGTC 0.562 ZHX1 11244 broad.mit.edu 37 8 124266020 124266020 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:124266020A>G uc003yqe.2 - 3 2597 c.2167T>C c.(2167-2169)TAC>CAC p.Y723H C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Y723H|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Y723H NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 723 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) TAGTAGTAGTACCATTTCAAG 0.468 ATAD2 29028 broad.mit.edu 37 8 124340720 124340720 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:124340720G>A uc003yqh.3 - 25 3686 c.3578C>T c.(3577-3579)GCC>GTC p.A1193V ATAD2_uc011lii.1_Missense_Mutation_p.A984V|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1193 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTGATCTATGGCATTCTGGCT 0.408 FER1L6 654463 broad.mit.edu 37 8 125131154 125131154 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:125131154C>T uc003yqw.2 + 40 5565 c.5359C>T c.(5359-5361)CGA>TGA p.R1787* uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1787 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGGAAAAGCCCGAAAGGAGCC 0.498 SQLE 6713 broad.mit.edu 37 8 126011817 126011817 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:126011817C>T uc011liq.1 + 1 1098 c.172C>T c.(172-174)CAG>TAG p.Q58* NM_003129 NP_003120 Q14534 ERG1_HUMAN squalene epoxidase 58 Q -> R (in Ref. 1; BAA22372). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity ovary(1)|breast(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) CGGGCGCCAGCAGAGCGGCTC 0.602 SQLE 6713 broad.mit.edu 37 8 126021227 126021227 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:126021227A>G uc011liq.1 + 5 1763 c.837A>G c.(835-837)CCA>CCG p.P279P NM_003129 NP_003120 Q14534 ERG1_HUMAN squalene epoxidase 279 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity ovary(1)|breast(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TCCATGCTCCACTGACTGTTG 0.383 FAM49B 51571 broad.mit.edu 37 8 130861526 130861526 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:130861526T>C uc003yss.2 - 13 1352 c.803A>G c.(802-804)CAT>CGT p.H268R FAM49B_uc003yst.2_Missense_Mutation_p.H268R|FAM49B_uc003ysu.2_Missense_Mutation_p.H268R|FAM49B_uc003ysv.2_Missense_Mutation_p.H122R|FAM49B_uc003ysw.2_Missense_Mutation_p.H268R|FAM49B_uc003ysx.2_Missense_Mutation_p.H268R|FAM49B_uc003ysy.1_Missense_Mutation_p.H268R NM_016623 NP_057707 Q9NUQ9 FA49B_HUMAN hypothetical protein LOC51571 268 0 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) TCCCACTGGATGTACGTGGTC 0.358 ASAP1 50807 broad.mit.edu 37 8 131124450 131124450 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:131124450C>T uc003yta.1 - 23 2319 c.2291G>A c.(2290-2292)CGG>CAG p.R764Q ASAP1_uc003ysz.1_Missense_Mutation_p.R575Q|ASAP1_uc011liw.1_Missense_Mutation_p.R757Q NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 764 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 ATAGGAGAGCCGCTGTTTGTC 0.597 ASAP1 50807 broad.mit.edu 37 8 131172152 131172152 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:131172152T>C uc003yta.1 - 11 996 c.968A>G c.(967-969)TAT>TGT p.Y323C ASAP1_uc003ysz.1_Missense_Mutation_p.Y134C|ASAP1_uc011liw.1_Missense_Mutation_p.Y316C NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 323 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 TTCACTGCCATATTCCTTATT 0.438 ASAP1 50807 broad.mit.edu 37 8 131226861 131226861 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:131226861T>C uc003yta.1 - 4 374 c.346A>G c.(346-348)ACC>GCC p.T116A ASAP1_uc011liw.1_Missense_Mutation_p.T109A NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 116 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 ACAAACGCGGTGCCAAGGTCG 0.353 KCNQ3 3786 broad.mit.edu 37 8 133142242 133142242 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:133142242A>G uc003ytj.2 - 15 2111 c.1886T>C c.(1885-1887)GTT>GCT p.V629A KCNQ3_uc010mdt.2_Missense_Mutation_p.V617A NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 629 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CATGTCCTGAACCTGGAAAAT 0.443 ST3GAL1 6482 broad.mit.edu 37 8 134477028 134477028 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:134477028T>C uc003yuk.2 - 7 1505 c.676A>G c.(676-678)ATT>GTT p.I226V ST3GAL1_uc003yum.2_Missense_Mutation_p.I226V NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 226 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CACTGGGAAATGGTGCCCGTG 0.642 PSCA 8000 broad.mit.edu 37 8 143763436 143763436 + Nonsense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:143763436C>A uc003ywu.2 + 3 313 c.258C>A c.(256-258)TGC>TGA p.C86* uc003ywt.1_5'Flank NM_005672 NP_005663 O43653 PSCA_HUMAN prostate stem cell antigen preproprotein 77 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACATCACGTGCTGTGACACCG 0.627 ZC3H3 23144 broad.mit.edu 37 8 144620193 144620193 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:144620193G>T uc003yyd.2 - 2 1373 c.1344C>A c.(1342-1344)ATC>ATA p.I448I NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 448 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TGCGTCTCCGGATGATCTTGG 0.617 FAM83H 286077 broad.mit.edu 37 8 144811260 144811260 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:144811260A>G uc003yzk.2 - 4 683 c.614T>C c.(613-615)TTC>TCC p.F205S FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 205 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) TACGCGCAGGAACTGGGGAGG 0.627 SCRIB 23513 broad.mit.edu 37 8 144891811 144891811 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:144891811G>A uc003yzp.1 - 14 1615 c.1608C>T c.(1606-1608)CCC>CCT p.P536P SCRIB_uc003yzo.1_Silent_p.P536P NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 536 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACGGGCCCTCGGGCTCAGCCT 0.662 PLEC 5339 broad.mit.edu 37 8 144993053 144993053 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:144993053G>A uc003zaf.1 - 32 11517 c.11347C>T c.(11347-11349)CGC>TGC p.R3783C PLEC_uc003zab.1_Missense_Mutation_p.R3646C|PLEC_uc003zac.1_Missense_Mutation_p.R3650C|PLEC_uc003zad.2_Missense_Mutation_p.R3646C|PLEC_uc003zae.1_Missense_Mutation_p.R3614C|PLEC_uc003zag.1_Missense_Mutation_p.R3624C|PLEC_uc003zah.2_Missense_Mutation_p.R3632C|PLEC_uc003zaj.2_Missense_Mutation_p.R3673C NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3783 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCGTGAGGCGGCGGCGCACG 0.602 PLEC 5339 broad.mit.edu 37 8 144994803 144994803 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:144994803G>T uc003zaf.1 - 32 9767 c.9597C>A c.(9595-9597)GCC>GCA p.A3199A PLEC_uc003zab.1_Silent_p.A3062A|PLEC_uc003zac.1_Silent_p.A3066A|PLEC_uc003zad.2_Silent_p.A3062A|PLEC_uc003zae.1_Silent_p.A3030A|PLEC_uc003zag.1_Silent_p.A3040A|PLEC_uc003zah.2_Silent_p.A3048A|PLEC_uc003zaj.2_Silent_p.A3089A NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3199 Globular 2.|Plectin 8. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCCGGTGCCGGCCTGGGCTT 0.652 PLEC 5339 broad.mit.edu 37 8 144999422 144999422 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:144999422G>A uc003zaf.1 - 31 5256 c.5086C>T c.(5086-5088)CGA>TGA p.R1696* PLEC_uc003zab.1_Nonsense_Mutation_p.R1559*|PLEC_uc003zac.1_Nonsense_Mutation_p.R1563*|PLEC_uc003zad.2_Nonsense_Mutation_p.R1559*|PLEC_uc003zae.1_Nonsense_Mutation_p.R1527*|PLEC_uc003zag.1_Nonsense_Mutation_p.R1537*|PLEC_uc003zah.2_Nonsense_Mutation_p.R1545*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R1586* NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1696 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGCCGCGCTCGCTCCACCTCG 0.741 GRINA 2907 broad.mit.edu 37 8 145066963 145066963 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:145066963A>G uc003zan.1 + 7 1236 c.1070A>G c.(1069-1071)AAC>AGC p.N357S GRINA_uc003zao.1_Missense_Mutation_p.N357S|GRINA_uc003zap.1_Missense_Mutation_p.N357S NM_001009184 NP_001009184 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl 357 Helical; (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GACATCATCAACATCTTCCTG 0.597 OPLAH 26873 broad.mit.edu 37 8 145107485 145107485 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:145107485A>G uc003zar.3 - 23 3252 c.3170T>C c.(3169-3171)GTG>GCG p.V1057A NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 1057 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GACCACGCGCACTGGCGCCAG 0.731 COMMD5 28991 broad.mit.edu 37 8 146076258 146076258 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:146076258G>A uc003zem.2 - 2 597 c.466C>T c.(466-468)CGG>TGG p.R156W COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Missense_Mutation_p.R156W|COMMD5_uc003zeo.3_Missense_Mutation_p.R156W|COMMD5_uc010mgf.2_Missense_Mutation_p.R156W NM_001081004 NP_001074473 Q9GZQ3 COMD5_HUMAN COMM domain containing 5 156 COMM. nucleus protein binding ovary(1) 1 all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) 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) ACCCGCCACCGAAAGTCAGCA 0.637 DOCK8 81704 broad.mit.edu 37 9 382611 382611 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:382611A>G uc003zgf.2 + 22 2816 c.2704A>G c.(2704-2706)AGC>GGC p.S902G DOCK8_uc010mgu.2_Missense_Mutation_p.S204G|DOCK8_uc010mgv.2_Missense_Mutation_p.S834G|DOCK8_uc010mgw.1_Missense_Mutation_p.S204G|DOCK8_uc003zgk.2_Missense_Mutation_p.S360G NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 902 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CCGGGTGATGAGCAGCAGTAA 0.577 KANK1 23189 broad.mit.edu 37 9 711872 711872 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:711872A>G uc003zgl.1 + 7 1755 c.1106A>G c.(1105-1107)CAA>CGA p.Q369R KANK1_uc003zgm.2_Missense_Mutation_p.Q369R|KANK1_uc003zgn.1_Missense_Mutation_p.Q369R|KANK1_uc003zgo.1_Missense_Mutation_p.Q369R|KANK1_uc003zgp.1_Missense_Mutation_p.Q369R|KANK1_uc003zgq.2_Missense_Mutation_p.Q211R|KANK1_uc003zgr.1_Missense_Mutation_p.Q211R|KANK1_uc003zgs.1_Missense_Mutation_p.Q211R NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 369 Potential. negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GAGTTCCGGCAACTTACAGCA 0.552 SMARCA2 6595 broad.mit.edu 37 9 2123850 2123850 + Silent SNP A A G rs141291951 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:2123850A>G uc003zhc.2 + 27 3993 c.3894A>G c.(3892-3894)GAA>GAG p.E1298E SMARCA2_uc003zhd.2_Silent_p.E1298E|SMARCA2_uc010mha.2_Silent_p.E1231E NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1298 Poly-Glu. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CCTGTGAAGAAGAGGAGGAGA 0.562 RANBP6 26953 broad.mit.edu 37 9 6014994 6014994 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:6014994G>A uc003zjr.2 - 1 625 c.614C>T c.(613-615)GCA>GTA p.A205V RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 205 Poly-Ala. protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AAATGCAGCTGCAGCTCTAGC 0.423 GLDC 2731 broad.mit.edu 37 9 6645245 6645245 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:6645245C>T uc003zkc.2 - 1 448 c.255G>A c.(253-255)GCG>GCA p.A85A NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 85 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGGTCCTTACCGCCAGCCCCA 0.706 IFNA7 3444 broad.mit.edu 37 9 21201793 21201793 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:21201793T>C uc003zop.1 - 1 412 c.372A>G c.(370-372)ATA>ATG p.I124M IFNA14_uc003zoo.1_Intron NM_021057 NP_066401 P01567 IFNA7_HUMAN interferon, alpha 7 precursor 124 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAACCTCCTGTATCACACATG 0.458 CDKN2A 1029 broad.mit.edu 37 9 21971106 21971106 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:21971106G>A uc003zpk.2 - 2 464 c.252C>T c.(250-252)GAC>GAT p.D84D MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R140C NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 84 ANK 3. D -> E (in a bladder tumor).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> H (in non-small cell lung carcinoma). 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.?(13)|p.D84Y(9)|p.D84V(4)|p.D84N(3)|p.D84fs*63(2)|p.D84G(2)|p.D84H(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.D84D(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.D84fs*0(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(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) CCCGGGCAGCGTCGTGCACGG 0.741 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) LRRC19 64922 broad.mit.edu 37 9 26995768 26995768 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:26995768A>G uc003zqh.2 - 5 975 c.864T>C c.(862-864)TTT>TTC p.F288F IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron NM_022901 NP_075052 Q9H756 LRC19_HUMAN leucine rich repeat containing 19 precursor 288 Helical; (Potential). integral to membrane 0 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) TGATAGCAATAAAAATGAGAA 0.373 KIF24 347240 broad.mit.edu 37 9 34297077 34297077 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:34297077C>T uc003zua.3 - 4 969 c.849G>A c.(847-849)GCG>GCA p.A283A KIF24_uc010mkb.2_Silent_p.A314A NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 283 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) GATTGGTGCACGCCTCACCAA 0.308 IL11RA 3590 broad.mit.edu 37 9 34658640 34658640 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:34658640G>A uc003zvi.2 + 8 2126 c.770G>A c.(769-771)CGT>CAT p.R257H IL11RA_uc011loq.1_Missense_Mutation_p.R257H|IL11RA_uc003zvj.2_Missense_Mutation_p.R257H|IL11RA_uc003zvk.2_Missense_Mutation_p.R257H|IL11RA_uc010mke.2_Missense_Mutation_p.R139H|IL11RA_uc003zvl.2_RNA NM_004512 NP_004503 Q14626 I11RA_HUMAN interleukin 11 receptor, alpha isoform 1 257 Extracellular (Potential).|Fibronectin type-III 2. integral to plasma membrane cytokine receptor activity skin(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) CTCAAGTTCCGTTTGCAGTAC 0.642 UNC13B 10497 broad.mit.edu 37 9 35380612 35380612 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:35380612G>A uc003zwq.2 + 17 2396 c.2104G>A c.(2104-2106)GAG>AAG p.E702K UNC13B_uc003zwr.2_Missense_Mutation_p.E702K NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 702 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CCTAAGTGGCGAGATGGACGT 0.488 UNC13B 10497 broad.mit.edu 37 9 35381108 35381108 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:35381108G>T uc003zwq.2 + 18 2432 c.2140G>T c.(2140-2142)GAC>TAC p.D714Y UNC13B_uc003zwr.2_Missense_Mutation_p.D714Y NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 714 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GAAGAGGACAGACAAATCAGC 0.483 CLTA 1211 broad.mit.edu 37 9 36199078 36199078 + Missense_Mutation SNP C C T rs138031703 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:36199078C>T uc003zzc.2 + 3 520 c.358C>T c.(358-360)CGC>TGC p.R120C CLTA_uc003zzd.2_Missense_Mutation_p.R120C|CLTA_uc003zze.2_Missense_Mutation_p.R120C|CLTA_uc011lpk.1_Missense_Mutation_p.R120C|CLTA_uc003zzf.1_RNA NM_007096 NP_009027 P09496 CLCA_HUMAN clathrin, light polypeptide A isoform b 120 Involved in binding clathrin heavy chain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol structural molecule activity central_nervous_system(1) 1 STAD - Stomach adenocarcinoma(86;0.228) ACAAATGGAACGCTTGGAAGC 0.423 GNE 10020 broad.mit.edu 37 9 36249330 36249330 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:36249330C>T uc010mlh.2 - 2 238 c.23G>A c.(22-24)CGA>CAA p.R8Q CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.R8Q|GNE_uc011lpl.1_Intron|GNE_uc010mli.2_Missense_Mutation_p.R39Q|GNE_uc010mlj.2_Intron NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 8 UDP-N-acetylglucosamine 2-epimerase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) CCGCAGCTTTCGGTTATTTCC 0.363 MELK 9833 broad.mit.edu 37 9 36589562 36589562 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:36589562T>C uc003zzn.2 + 4 312 c.174T>C c.(172-174)ATT>ATC p.I58I MELK_uc011lpm.1_5'UTR|MELK_uc011lpn.1_Silent_p.I58I|MELK_uc011lpo.1_5'UTR|MELK_uc010mll.2_Silent_p.I26I|MELK_uc011lpp.1_Silent_p.I58I|MELK_uc010mlm.2_Intron|MELK_uc011lpq.1_5'UTR|MELK_uc011lpr.1_Silent_p.I58I|MELK_uc011lps.1_Silent_p.I26I NM_014791 NP_055606 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 58 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) AAACGGAGATTGAGGCCTTGA 0.408 ZBTB5 9925 broad.mit.edu 37 9 37441103 37441103 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:37441103C>T uc003zzx.2 - 2 1646 c.1446G>A c.(1444-1446)ATG>ATA p.M482I NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) TCACCTCCTGCATAGGCCTGA 0.592 ZBTB5 9925 broad.mit.edu 37 9 37441822 37441822 + Missense_Mutation SNP T T C rs139375543 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:37441822T>C uc003zzx.2 - 2 927 c.727A>G c.(727-729)AAT>GAT p.N243D NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) GCTTTAGGATTATCCACAATT 0.463 APBA1 320 broad.mit.edu 37 9 72056032 72056032 + Splice_Site SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:72056032C>A uc004ahh.2 - 11 2458 c.2182_splice c.e11-1 p.G728_splice NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 TCTTTAAGCCCTTAAACATGA 0.473 PRUNE2 158471 broad.mit.edu 37 9 79318675 79318675 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:79318675G>A uc010mpk.2 - 9 7978 c.7854C>T c.(7852-7854)AGC>AGT p.S2618S PRUNE2_uc004akj.3_Silent_p.S71S|PRUNE2_uc010mpl.1_Silent_p.S71S NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2618 S -> G (in Ref. 4; BAD93351 and 6; BAA20822). apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ATCTCGTATCGCTTTTAGAAG 0.483 GNA14 9630 broad.mit.edu 37 9 80046287 80046287 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:80046287G>T uc004aku.2 - 4 1066 c.543C>A c.(541-543)CCC>CCA p.P181P NM_004297 NP_004288 O95837 GNA14_HUMAN G alpha 14 181 GTP (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(2) 2 TGCCGGTGGTGGGCACTCGGA 0.488 SLC28A3 64078 broad.mit.edu 37 9 86924587 86924587 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:86924587T>G uc010mpz.2 - 3 324 c.199A>C c.(199-201)AGA>CGA p.R67R SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Silent_p.R67R|SLC28A3_uc010mqb.2_5'UTR NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 67 Cytoplasmic (Potential). R -> K. nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 ATGTGTTCTCTGTTTCTTGGA 0.428 DAPK1 1612 broad.mit.edu 37 9 90283523 90283523 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:90283523G>A uc004apc.2 + 19 2073 c.1935G>A c.(1933-1935)ACG>ACA p.T645T DAPK1_uc004apd.2_Silent_p.T645T|DAPK1_uc011ltg.1_Silent_p.T645T|DAPK1_uc011lth.1_Silent_p.T382T|DAPK1_uc004apf.1_Silent_p.T199T NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 645 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 ACGGAAAGACGGCAGAAGATC 0.463 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of CDK20 23552 broad.mit.edu 37 9 90589317 90589317 + Silent SNP G G A rs138136908 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:90589317G>A uc004apr.2 - 1 351 c.45C>T c.(43-45)CAC>CAT p.H15H CDK20_uc004aps.2_Silent_p.H15H|CDK20_uc004apt.2_Silent_p.H15H|CDK20_uc004apu.2_Silent_p.H15H NM_001039803 NP_001034892 Q8IZL9 CDK20_HUMAN cell cycle related kinase isoform 3 15 Protein kinase.|ATP (By similarity). cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 AGACGATGCCGTGGGCGCCCT 0.682 S1PR3 1903 broad.mit.edu 37 9 91617003 91617003 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:91617003C>T uc004aqe.2 + 2 1284 c.888C>T c.(886-888)GTC>GTT p.V296V NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 296 Helical; Name=7; (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 TGAACCCGGTCATCTACACGC 0.637 SEMA4D 10507 broad.mit.edu 37 9 91994223 91994223 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:91994223T>C uc004aqo.1 - 18 2557 c.1985A>G c.(1984-1986)CAG>CGG p.Q662R SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.Q660R NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 662 Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 ACCTTCTGTCTGAACAACTGA 0.577 NOL8 55035 broad.mit.edu 37 9 95077286 95077286 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:95077286G>T uc004arv.2 - 7 1958 c.1621C>A c.(1621-1623)CCT>ACT p.P541T NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.P473T NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 541 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 ATCTCCGCAGGACGAATACAC 0.502 BICD2 23299 broad.mit.edu 37 9 95482718 95482718 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:95482718G>A uc004aso.1 - 4 983 c.926C>T c.(925-927)GCC>GTC p.A309V BICD2_uc004asp.1_Missense_Mutation_p.A309V NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 309 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 TGGCAGCTTGGCCAGGCCGCC 0.627 FGD3 89846 broad.mit.edu 37 9 95780428 95780428 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:95780428T>C uc004asw.2 + 11 1914 c.1286T>C c.(1285-1287)ATC>ACC p.I429T FGD3_uc004asx.2_Missense_Mutation_p.I429T|FGD3_uc004asz.2_Missense_Mutation_p.I429T|FGD3_uc004ata.2_Missense_Mutation_p.I232T|FGD3_uc011luc.1_Missense_Mutation_p.I32T NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 429 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 GTGCAGGATATCGTCAAGCCA 0.463 ZNF367 195828 broad.mit.edu 37 9 99160512 99160512 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:99160512A>G uc004awf.2 - 2 860 c.505T>C c.(505-507)TGT>CGT p.C169R ZNF367_uc004awg.2_Missense_Mutation_p.C169R NM_153695 NP_710162 Q7RTV3 ZN367_HUMAN zinc finger protein 367 169 C2H2-type 1. regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0167) CAGATGTTACAACGGATTCTG 0.433 KIAA1529 57653 broad.mit.edu 37 9 100077196 100077196 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:100077196G>A uc011lut.1 + 20 2085 c.1312G>A c.(1312-1314)GAA>AAA p.E438K KIAA1529_uc004axe.1_Missense_Mutation_p.E438K|KIAA1529_uc004axg.1_Missense_Mutation_p.E299K|KIAA1529_uc011lus.1_Missense_Mutation_p.E256K|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.E299K|KIAA1529_uc011luv.1_Missense_Mutation_p.E296K NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) CATGCGGCCCGAAGTGTACAG 0.498 NANS 54187 broad.mit.edu 37 9 100840602 100840602 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:100840602T>C uc004ayb.2 + 5 1218 c.576T>C c.(574-576)CCT>CCC p.P192P NANS_uc004ayc.2_Silent_p.P192P|TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_Silent_p.P40P NM_018946 NP_061819 Q9NR45 SIAS_HUMAN N-acetylneuraminic acid phosphate synthase 192 lipopolysaccharide biosynthetic process cytoplasm N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) CGCTCCAGCCTGAGGACGTCA 0.527 SLC44A1 23446 broad.mit.edu 37 9 108097858 108097858 + Nonsense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:108097858T>A uc004bcn.2 + 4 505 c.284T>A c.(283-285)TTG>TAG p.L95* SLC44A1_uc010mtk.1_Nonsense_Mutation_p.L95* NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 95 Mitochondrial intermembrane (Potential). integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) GTATTCTTTTTGGATCCATGC 0.403 ZNF462 58499 broad.mit.edu 37 9 109690181 109690181 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:109690181C>T uc004bcz.2 + 3 4277 c.3988C>T c.(3988-3990)CAT>TAT p.H1330Y ZNF462_uc010mto.2_Missense_Mutation_p.H1178Y|ZNF462_uc004bda.2_Missense_Mutation_p.H1178Y NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1330 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TTTGCTCCTGCATTACCAACG 0.532 C9orf5 23731 broad.mit.edu 37 9 111853258 111853258 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:111853258A>G uc004bdt.3 - 5 1126 c.1094T>C c.(1093-1095)GTC>GCC p.V365A C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.V365A NM_032012 NP_114401 Q9H330 CI005_HUMAN hypothetical protein LOC23731 365 Helical; (Potential). integral to membrane central_nervous_system(1) 1 Myeloproliferative disorder(63;0.204) OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823) GATCTGCATGACGACAATGGC 0.453 EPB41L4B 54566 broad.mit.edu 37 9 111956600 111956600 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:111956600G>A uc004bdz.1 - 21 2418 c.2123C>T c.(2122-2124)GCC>GTC p.A708V NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 708 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 TTGTGTGGCGGCCGTTGTGGT 0.592 PALM2-AKAP2 445815 broad.mit.edu 37 9 112705214 112705214 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:112705214C>T uc004bei.2 + 7 937 c.745C>T c.(745-747)CAC>TAC p.H249Y PALM2_uc004bef.2_Missense_Mutation_p.H251Y|PALM2_uc004beg.2_Missense_Mutation_p.H217Y|PALM2_uc004beh.3_Missense_Mutation_p.H249Y|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 AGGAGGAGGGCACGTGTCTGA 0.463 SUSD1 64420 broad.mit.edu 37 9 114840897 114840897 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:114840897C>T uc004bfu.2 - 12 1715 c.1674G>A c.(1672-1674)CCG>CCA p.P558P SUSD1_uc010mui.2_Silent_p.P558P|SUSD1_uc010muj.2_Silent_p.P558P NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 558 Extracellular (Potential). integral to membrane calcium ion binding 0 AGTTGGTACCCGGACGTAGGT 0.493 KIAA1958 158405 broad.mit.edu 37 9 115337189 115337189 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:115337189T>C uc004bgf.1 + 2 1004 c.829T>C c.(829-831)TCC>CCC p.S277P KIAA1958_uc011lwx.1_Missense_Mutation_p.S277P NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 277 skin(1) 1 CTCTGTGATCTCCAGACCAAT 0.537 PRPF4 9128 broad.mit.edu 37 9 116053805 116053805 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:116053805G>A uc004bgx.2 + 14 1484 c.1434G>A c.(1432-1434)ACG>ACA p.T478T PRPF4_uc004bgy.2_Silent_p.T477T NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 478 WD 6. Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 AGATCTGGACGCACCCAGGCT 0.512 HDHD3 81932 broad.mit.edu 37 9 116136584 116136584 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:116136584C>T uc004bhi.1 - 2 835 c.51G>A c.(49-51)ACG>ACA p.T17T HDHD3_uc004bhj.2_Silent_p.T17T|HDHD3_uc004bhk.2_Silent_p.T17T NM_031219 NP_112496 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain 17 phosphoglycolate phosphatase activity|protein binding 0 GCCTGAGCAGCGTGTCCTTCA 0.662 ZNF618 114991 broad.mit.edu 37 9 116812206 116812206 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:116812206A>G uc004bid.2 + 15 2723 c.2624A>G c.(2623-2625)TAC>TGC p.Y875C ZNF618_uc004bic.2_Missense_Mutation_p.Y782C|ZNF618_uc011lxi.1_Missense_Mutation_p.Y842C|ZNF618_uc011lxj.1_Missense_Mutation_p.Y843C|ZNF618_uc010mvb.2_Missense_Mutation_p.Y465C NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 875 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AATGAAGTGTACGATTACCTG 0.582 C5 727 broad.mit.edu 37 9 123737105 123737105 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:123737105T>C uc004bkv.2 - 30 3999 c.3969A>G c.(3967-3969)TTA>TTG p.L1323L NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 1323 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TATAATTATGTAAGGCACCTT 0.388 C5 727 broad.mit.edu 37 9 123776151 123776151 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:123776151G>A uc004bkv.2 - 17 2287 c.2257C>T c.(2257-2259)CAC>TAC p.H753Y C5_uc010mvm.1_Missense_Mutation_p.H753Y NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 753 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TCATACTTACGTAGCCTTCCC 0.383 DAB2IP 153090 broad.mit.edu 37 9 124535261 124535261 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:124535261C>T uc004bln.2 + 12 2439 c.2370C>T c.(2368-2370)GGC>GGT p.G790G DAB2IP_uc004blo.2_Silent_p.G694G|DAB2IP_uc004blp.2_Silent_p.G223G NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform 818 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 GCGCGCCAGGCCGGCCCCAGC 0.721 LHX6 26468 broad.mit.edu 37 9 124979348 124979348 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:124979348G>A uc010mvw.2 - 4 703 c.594C>T c.(592-594)AAC>AAT p.N198N LHX6_uc004blx.3_Silent_p.N227N|LHX6_uc004bly.3_Silent_p.N227N NM_014368 NP_055183 Q9UPM6 LHX6_HUMAN LIM homeobox protein 6 isoform 1 198 cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GTTGGGTACCGTTCTCGGCGG 0.637 ZBTB26 57684 broad.mit.edu 37 9 125681320 125681320 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:125681320A>G uc004bnj.2 - 2 1106 c.894T>C c.(892-894)TTT>TTC p.F298F ZBTB26_uc004bnk.2_Silent_p.F298F NM_020924 NP_065975 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 298 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTAGACACATAAAGAGTTTGT 0.463 LHX2 9355 broad.mit.edu 37 9 126794732 126794732 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:126794732C>T uc004boe.1 + 5 1706 c.967C>T c.(967-969)CGC>TGC p.R323C LHX2_uc010mwi.1_Missense_Mutation_p.R331C NM_004789 NP_004780 P50458 LHX2_HUMAN LIM homeobox protein 2 323 Homeobox.|Nuclear localization signal (Potential). nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CAAGTTCAGGCGCAACCTCTT 0.667 NAIF1 203245 broad.mit.edu 37 9 130825856 130825856 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:130825856G>A uc004bta.2 - 2 1054 c.835C>T c.(835-837)CAG>TAG p.Q279* NAIF1_uc004bsz.2_RNA NM_197956 NP_931045 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 279 apoptosis|induction of apoptosis nucleus 0 AGGGCAGCCTGTGTGCCCTCC 0.642 PTGES2 80142 broad.mit.edu 37 9 130884681 130884681 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:130884681C>T uc004bti.2 - 6 1443 c.965G>A c.(964-966)CGG>CAG p.R322Q PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.R131Q|PTGES2_uc004btl.2_Missense_Mutation_p.R131Q|PTGES2_uc004btm.2_RNA NM_025072 NP_079348 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 322 GST C-terminal.|Cytoplasmic (Potential). cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity 0 CATGAAGGGCCGGTCCTTGCC 0.647 GOLGA2 2801 broad.mit.edu 37 9 131020067 131020067 + Splice_Site SNP A A G rs112572208 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:131020067A>G uc011maw.1 - 23 2543 c.2530_splice c.e23+1 p.G844_splice GOLGA2_uc010mxw.2_Splice_Site_p.G167_splice|GOLGA2_uc004buh.2_Intron NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 Golgi cisterna membrane protein binding ovary(1) 1 CCTCCCACTCACCAATGGTGT 0.587 TOR1A 1861 broad.mit.edu 37 9 132580879 132580879 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:132580879C>A uc004byl.2 - 4 745 c.668G>T c.(667-669)AGG>ATG p.R223M TOR1A_uc004bym.2_RNA NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 223 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) CTTTCCACTCCTCCAGAAATC 0.493 LAMC3 10319 broad.mit.edu 37 9 133911697 133911697 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:133911697C>A uc004caa.1 + 4 1052 c.954C>A c.(952-954)GCC>GCA p.A318A NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 318 Laminin EGF-like 1. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GGGGCACCGCCGAGGCTGCCC 0.672 PPAPDC3 84814 broad.mit.edu 37 9 134165682 134165682 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:134165682G>A uc004cal.2 + 1 602 c.298G>A c.(298-300)GCT>ACT p.A100T NM_032728 NP_116117 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain 100 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(1) 1 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) GGGGGTGTGCGCTGGCCGGGC 0.647 RAPGEF1 2889 broad.mit.edu 37 9 134471743 134471743 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:134471743G>A uc004cbc.2 - 14 2203 c.2073C>T c.(2071-2073)GAC>GAT p.D691D RAPGEF1_uc004cbb.2_Silent_p.D709D|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Silent_p.D866D|RAPGEF1_uc004cbd.2_Silent_p.D696D NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 691 N-terminal Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CTCCGCGGACGTCCGGCCCGT 0.537 SETX 23064 broad.mit.edu 37 9 135202213 135202213 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:135202213G>T uc004cbk.2 - 10 4955 c.4772C>A c.(4771-4773)CCT>CAT p.P1591H SETX_uc004cbj.2_Missense_Mutation_p.P1210H|SETX_uc010mzt.2_Missense_Mutation_p.P1210H NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1591 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AGGTCTCAAAGGTTTAGATGC 0.413 SETX 23064 broad.mit.edu 37 9 135203957 135203957 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:135203957G>A uc004cbk.2 - 10 3211 c.3028C>T c.(3028-3030)CGT>TGT p.R1010C SETX_uc004cbj.2_Missense_Mutation_p.R629C|SETX_uc010mzt.2_Missense_Mutation_p.R629C NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1010 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ACCTGTCCACGGGAGGTATCT 0.388 BARHL1 56751 broad.mit.edu 37 9 135462862 135462862 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:135462862G>A uc004cbp.1 + 2 805 c.613G>A c.(613-615)GTG>ATG p.V205M NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 205 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) GTACCTGAGCGTGCAGGACCG 0.667 SARDH 1757 broad.mit.edu 37 9 136596526 136596526 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:136596526G>A uc004cep.3 - 4 725 c.591C>T c.(589-591)GAC>GAT p.D197D SARDH_uc004ceo.2_Silent_p.D197D|SARDH_uc011mdn.1_Silent_p.D197D|SARDH_uc011mdo.1_Silent_p.D29D NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 197 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CGTAGAGGTCGTCCACATTCA 0.642 COL5A1 1289 broad.mit.edu 37 9 137717721 137717721 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:137717721T>A uc004cfe.2 + 63 5420 c.5038T>A c.(5038-5040)TGC>AGC p.C1680S uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1680 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGGTCGACATGCGTCTTCCC 0.582 C9orf116 138162 broad.mit.edu 37 9 138387441 138387441 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:138387441C>T uc004cft.1 - 3 307 c.243G>A c.(241-243)TCG>TCA p.S81S C9orf116_uc004cfs.1_Intron|C9orf116_uc004cfu.1_Intron NM_001048265 NP_001041730 Q5BN46 CI116_HUMAN hypothetical protein LOC138162 isoform 1 81 0 OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) AAAATTTATTCGAATTTGGAT 0.363 OBP2A 29991 broad.mit.edu 37 9 138440623 138440623 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:138440623C>T uc004cgb.2 + 5 500 c.458C>T c.(457-459)TCG>TTG p.S153L OBP2A_uc004cgc.2_Missense_Mutation_p.R175W|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.S130L NM_014582 NP_055397 Q9NY56 OBP2A_HUMAN odorant binding protein 2A precursor 153 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) AAGGGACTCTCGGAGGAGGAC 0.562 SNAPC4 6621 broad.mit.edu 37 9 139288730 139288730 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:139288730C>T uc004chh.2 - 6 612 c.603G>A c.(601-603)CTG>CTA p.L201L NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 201 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) GCAATCGCTGCAGGCGGTCAC 0.413 NOTCH1 4851 broad.mit.edu 37 9 139395128 139395128 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:139395128C>T uc004chz.2 - 31 5810 c.5810G>A c.(5809-5811)CGC>CAC p.R1937H NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1937 Cytoplasmic (Potential).|ANK 1. 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) GCGTGAGTAGCGGGCGGCCAG 0.677 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) NOTCH1 4851 broad.mit.edu 37 9 139412608 139412608 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:139412608G>A uc004chz.2 - 7 1236 c.1236C>T c.(1234-1236)GAC>GAT p.D412D NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 412 Extracellular (Potential).|EGF-like 11; calcium-binding (Potential). 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) ACTCATCCACGTCCTGGCTGC 0.657 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) MAMDC4 158056 broad.mit.edu 37 9 139749902 139749902 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:139749902G>A uc004cjs.2 + 12 1352 c.1302G>A c.(1300-1302)CCG>CCA p.P434P MAMDC4_uc011mej.1_Intron NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 434 Extracellular (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCCTGCAGCCGCTGCCTCCTG 0.706 ENTPD8 377841 broad.mit.edu 37 9 140331377 140331377 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:140331377C>T uc004cmw.2 - 5 683 c.499G>A c.(499-501)GCC>ACC p.A167T C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.A167T|ENTPD8_uc004cmy.2_3'UTR NM_001033113 NP_001028285 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 167 Extracellular (Potential). integral to membrane|plasma membrane ATP binding skin(1) 1 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GCACCTTCGGCCTGCCCGGCC 0.652 ENTPD8 377841 broad.mit.edu 37 9 140331675 140331675 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:140331675G>T uc004cmw.2 - 4 515 c.331C>A c.(331-333)CCA>ACA p.P111T C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.P111T|ENTPD8_uc004cmy.2_Missense_Mutation_p.P111T NM_001033113 NP_001028285 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 111 Extracellular (Potential). integral to membrane|plasma membrane ATP binding skin(1) 1 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) TGGGCCTCTGGGATCAGCACC 0.637 ZMYND19 116225 broad.mit.edu 37 9 140481464 140481464 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:140481464G>A uc004cno.1 - 4 536 c.314C>T c.(313-315)CCG>CTG p.P105L NM_138462 NP_612471 Q96E35 ZMY19_HUMAN zinc finger, MYND domain containing 19 105 Golgi apparatus|plasma membrane zinc ion binding skin(1) 1 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CCAGCCCCACGGCACCAGTTG 0.672 ASMTL 8623 broad.mit.edu 37 X 1546952 1546952 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:1546952C>T uc004cpx.1 - 7 683 c.572G>A c.(571-573)GGG>GAG p.G191E ASMTL_uc011mhe.1_Missense_Mutation_p.G115E|ASMTL_uc004cpy.1_Missense_Mutation_p.G175E|ASMTL_uc011mhf.1_Missense_Mutation_p.G133E NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 191 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGAAAGTCCCCGTGTACGGA 0.637 ASMTL 8623 broad.mit.edu 37 X 1561150 1561150 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:1561150C>T uc004cpx.1 - 2 265 c.154G>A c.(154-156)GCT>ACT p.A52T ASMTL_uc011mhe.1_5'UTR|ASMTL_uc004cpy.1_Missense_Mutation_p.A52T|ASMTL_uc011mhf.1_5'UTR NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 52 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TACGGAGTAGCGAAGGAGGCT 0.572 DHRSX 207063 broad.mit.edu 37 X 2343345 2343345 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:2343345A>G uc004cqf.3 - 2 159 c.110T>C c.(109-111)GTT>GCT p.V37A NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 37 binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TGGGGGGAAAACTGAAAAAGA 0.458 MXRA5 25878 broad.mit.edu 37 X 3248316 3248316 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:3248316G>A uc004crg.3 - 4 609 c.452C>T c.(451-453)ACG>ATG p.T151M NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 151 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCTCAGAGACGTTAAGCCGTT 0.488 DCAF8L1 139425 broad.mit.edu 37 X 27999203 27999203 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:27999203G>A uc004dbx.1 - 1 364 c.249C>T c.(247-249)AGC>AGT p.S83S NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 83 Glu-rich. ovary(3)|skin(1) 4 CTTCACCCATGCTTTCAAGTT 0.358 FAM47A 158724 broad.mit.edu 37 X 34150286 34150286 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:34150286C>T uc004ddg.2 - 1 143 c.110G>A c.(109-111)CGC>CAC p.R37H NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 37 ovary(4)|central_nervous_system(1) 5 GAACCTCAGGCGCCTGTGCTT 0.592 TMEM47 83604 broad.mit.edu 37 X 34657419 34657419 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:34657419G>A uc004ddh.2 - 2 571 c.312C>T c.(310-312)TGC>TGT p.C104C TMEM47_uc010ngs.2_RNA NM_031442 NP_113630 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 104 integral to membrane lung(1) 1 GAGATCCCACGCAGATAGAAA 0.433 BCOR 54880 broad.mit.edu 37 X 39931850 39931850 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:39931850T>C uc004den.3 - 4 3041 c.2749A>G c.(2749-2751)ACC>GCC p.T917A BCOR_uc004dep.3_Missense_Mutation_p.T917A|BCOR_uc004deo.3_Missense_Mutation_p.T917A|BCOR_uc004dem.3_Missense_Mutation_p.T917A|BCOR_uc004deq.3_Missense_Mutation_p.T917A NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 917 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TCCTCTTGGGTTTTACCAAAA 0.527 ARAF 369 broad.mit.edu 37 X 47430395 47430395 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:47430395G>A uc011mlq.1 + 15 1803 c.1670G>A c.(1669-1671)CGG>CAG p.R557Q NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 557 Protein kinase. intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity large_intestine(3)|lung(2)|ovary(1)|skin(1) 7 Adenosine triphosphate(DB00171) CGGGAGGAGCGGCCCCTCTTC 0.612 SLC38A5 92745 broad.mit.edu 37 X 48319469 48319469 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:48319469G>A uc010nid.2 - 13 1033 c.855C>T c.(853-855)CCC>CCT p.P285P SLC38A5_uc004djk.3_Silent_p.P234P NM_033518 NP_277053 Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 285 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane ovary(3) 3 TGCGCTTGGAGGGCCTGAGGT 0.597 TBC1D25 4943 broad.mit.edu 37 X 48417659 48417659 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:48417659C>T uc004dka.1 + 5 741 c.630C>T c.(628-630)CAC>CAT p.H210H TBC1D25_uc011mly.1_Silent_p.H152H|TBC1D25_uc004dkb.1_Translation_Start_Site|TBC1D25_uc011mlz.1_Translation_Start_Site|TBC1D25_uc011mma.1_Translation_Start_Site|TBC1D25_uc004dkc.1_Translation_Start_Site|TBC1D25_uc011mmb.1_Silent_p.H214H|TBC1D25_uc011mmc.1_Translation_Start_Site|TBC1D25_uc011mmd.1_Translation_Start_Site NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 210 intracellular Rab GTPase activator activity ovary(1) 1 ACCTGAACCACGAGGGCCAGC 0.582 KDM5C 8242 broad.mit.edu 37 X 53226001 53226001 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:53226001T>C uc004drz.2 - 19 3381 c.2848A>G c.(2848-2850)ATG>GTG p.M950V KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.M883V|KDM5C_uc004dsa.2_Missense_Mutation_p.M949V NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 950 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 AGTCCTCGCATGACAGCCAAG 0.642 N|F|S clear cell renal carcinoma KDM5C 8242 broad.mit.edu 37 X 53230892 53230892 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:53230892C>T uc004drz.2 - 14 2434 c.1901G>A c.(1900-1902)CGC>CAC p.R634H KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.R567H|KDM5C_uc004dsa.2_Missense_Mutation_p.R633H NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 634 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 CCGGAGCCGGCGGTAGTGCTC 0.587 N|F|S clear cell renal carcinoma SMC1A 8243 broad.mit.edu 37 X 53440338 53440338 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:53440338A>G uc004dsg.2 - 4 528 c.459T>C c.(457-459)GCT>GCC p.A153A SMC1A_uc011moe.1_Silent_p.A131A|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Silent_p.A19A NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 153 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 CTTCAAATAGAGCTGTCCTCT 0.483 WNK3 65267 broad.mit.edu 37 X 54359575 54359575 + Missense_Mutation SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:54359575G>C uc004dtd.1 - 2 971 c.532C>G c.(532-534)CTG>GTG p.L178V WNK3_uc004dtc.1_Missense_Mutation_p.L178V NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 178 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 CCTACCTGCAGCTCACACCAA 0.373 FOXR2 139628 broad.mit.edu 37 X 55650330 55650330 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:55650330G>A uc004duo.2 + 1 498 c.186G>A c.(184-186)AAG>AAA p.K62K NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN forkhead box R2 62 embryo development|organ development|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|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 lung(2)|central_nervous_system(1) 3 TGCCTCAGAAGAGGAGACCCA 0.537 AWAT2 158835 broad.mit.edu 37 X 69261725 69261725 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:69261725C>T uc004dxt.1 - 7 941 c.935G>A c.(934-936)CGT>CAT p.R312H NM_001002254 NP_001002254 Q6E213 AWAT2_HUMAN wax synthase 2 312 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity 0 AAACAGTTTACGTAGGGCATC 0.498 GLA 2717 broad.mit.edu 37 X 100653412 100653412 + Silent SNP G G A rs151208856 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:100653412G>A uc004ehl.1 - 6 1055 c.945C>T c.(943-945)GAC>GAT p.D315D NM_000169 NP_000160 P06280 AGAL_HUMAN alpha-galactosidase A precursor 315 glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding 0 Agalsidase beta(DB00103) TGGCAATTACGTCCTTATCCT 0.458 TMSB15B 286527 broad.mit.edu 37 X 103220136 103220136 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:103220136T>C uc010noz.2 + 3 239 c.125T>C c.(124-126)GTT>GCT p.V42A TMSB15B_uc004elo.3_RNA|TMSB15B_uc004elq.3_RNA NM_194324 NP_919305 P0CG34 TB15A_HUMAN thymosin beta15b 42 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding skin(1) 1 AAAGAGTGTGTTCAAACATCA 0.383 IL1RAPL2 26280 broad.mit.edu 37 X 104999178 104999178 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:104999178G>T uc004elz.1 + 10 1956 c.1200G>T c.(1198-1200)AAG>AAT p.K400N NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 400 Cytoplasmic (Potential).|TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 AAGACAACAAGGAATATGATG 0.383 CXorf57 55086 broad.mit.edu 37 X 105905498 105905498 + Silent SNP C C T rs140805762 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:105905498C>T uc004emi.3 + 12 2383 c.2232C>T c.(2230-2232)AGC>AGT p.S744S CXorf57_uc004emj.3_Silent_p.S647S NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 744 ovary(1)|lung(1)|breast(1) 3 ATTTTAAGAGCGCCCGAAGCC 0.358 CXorf57 55086 broad.mit.edu 37 X 105912413 105912413 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:105912413A>G uc004emi.3 + 13 2441 c.2290A>G c.(2290-2292)ATC>GTC p.I764V CXorf57_uc004emj.3_Missense_Mutation_p.I667V NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 764 ovary(1)|lung(1)|breast(1) 3 TGAGATAGCAATCGATGTTGC 0.284 TSC22D3 1831 broad.mit.edu 37 X 106960004 106960004 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:106960004G>A uc004eng.2 - 1 288 c.38C>T c.(37-39)GCG>GTG p.A13V TSC22D3_uc004enf.2_5'Flank|TSC22D3_uc004enh.2_Intron|TSC22D3_uc004eni.2_Intron|TSC22D3_uc004enj.2_Intron NM_004089 NP_004080 Q99576 T22D3_HUMAN TSC22 domain family, member 3 isoform 2 13 AP1-binding (By similarity). sequence-specific DNA binding transcription factor activity 0 CTGGTAGACCGCCACCTCCAT 0.483 VSIG1 340547 broad.mit.edu 37 X 107319359 107319359 + Silent SNP C C T rs150102865 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:107319359C>T uc004eno.2 + 6 902 c.741C>T c.(739-741)GCC>GCT p.A247A VSIG1_uc011msk.1_Silent_p.A283A NM_182607 NP_872413 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 247 Helical; (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 TGGTAGGTGCCGCCATCATCA 0.428 HTR2C 3358 broad.mit.edu 37 X 114141262 114141262 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:114141262G>A uc004epu.1 + 6 1389 c.661G>A c.(661-663)GTA>ATA p.V221I HTR2C_uc010nqc.1_Missense_Mutation_p.V221I|HTR2C_uc004epv.1_Missense_Mutation_p.R189H NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 221 Helical; Name=5; (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TGGGTCCTTCGTAGCTTTCTT 0.493 IL13RA2 3598 broad.mit.edu 37 X 114249138 114249138 + Splice_Site SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:114249138C>T uc004epx.2 - 4 372 c.247_splice c.e4-1 p.T83_splice IL13RA2_uc010nqd.1_Splice_Site_p.T83_splice NM_000640 NP_000631 Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 precursor extracellular space|integral to membrane|soluble fraction cytokine receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 TAATGATGGTCTGTTTGACAA 0.358 ZNF449 203523 broad.mit.edu 37 X 134494750 134494750 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:134494750A>G uc004eys.2 + 5 1471 c.1306A>G c.(1306-1308)AGA>GGA p.R436G ZNF449_uc004eyt.2_Missense_Mutation_p.R316G|ZNF449_uc004eyu.2_Missense_Mutation_p.R242G NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 436 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) AAAACCTCATAGATGTCATAA 0.353 SPANXC 64663 broad.mit.edu 37 X 140336551 140336551 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:140336551C>T uc004fbk.2 - 1 96 c.40G>A c.(40-42)GTC>ATC p.V14I SPANXC_uc004fbl.2_Intron NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN sperm protein associated with the nucleus, X 14 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) TCACAGGGGACGCTCCTCTTC 0.338 MAGEA4 4103 broad.mit.edu 37 X 151092878 151092878 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:151092878A>G uc004fez.2 + 3 898 c.742A>G c.(742-744)ACC>GCC p.T248A MAGEA4_uc004ffa.2_Missense_Mutation_p.T248A|MAGEA4_uc004ffb.2_Missense_Mutation_p.T248A|MAGEA4_uc004ffc.2_Missense_Mutation_p.T248A|MAGEA4_uc004ffd.2_Missense_Mutation_p.T248A NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 248 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GAAACTGCTCACCCAAGATTG 0.592 PNMA3 29944 broad.mit.edu 37 X 152226568 152226568 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:152226568C>T uc004fhc.2 + 2 1492 c.1156C>T c.(1156-1158)CGG>TGG p.R386W PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN paraneoplastic cancer-testis-brain antigen 386 Arg-rich. apoptosis nucleolus nucleic acid binding|zinc ion binding skin(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTACCGGCGCCGGAGGGGCAG 0.622 ARHGAP4 393 broad.mit.edu 37 X 153175819 153175819 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:153175819G>A uc004fjk.1 - 17 2004 c.1962C>T c.(1960-1962)TAC>TAT p.Y654Y ARHGAP4_uc004fjj.1_Silent_p.Y5Y|ARHGAP4_uc011mzf.1_Silent_p.Y631Y|ARHGAP4_uc004fjl.1_Silent_p.Y694Y|ARHGAP4_uc010nup.1_Intron NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 654 Rho-GAP. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGCCAGGTTGTAGGGGTCCA 0.682 FLNA 2316 broad.mit.edu 37 X 153583313 153583313 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:153583313G>T uc004fkk.2 - 31 5346 c.5097C>A c.(5095-5097)GAC>GAA p.D1699E FLNA_uc004fki.2_5'Flank|FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.D1691E NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1699 Filamin 15. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCTCCACCACGTCCACATCCA 0.597 OREG0003595 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay MPP1 4354 broad.mit.edu 37 X 154020457 154020457 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:154020457A>G uc004fmp.1 - 2 321 c.206T>C c.(205-207)GTG>GCG p.V69A MPP1_uc010nvg.1_Missense_Mutation_p.V69A|MPP1_uc011mzv.1_Missense_Mutation_p.V39A|MPP1_uc004fmq.1_Missense_Mutation_p.V23A|MPP1_uc011mzw.1_Intron|MPP1_uc010nvh.1_Intron NM_002436 NP_002427 Q00013 EM55_HUMAN palmitoylated membrane protein 1 69 regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding ovary(2)|central_nervous_system(1) 3 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) TATGAGTCGCACTTTCCGCAC 0.557 TBCEL 219899 broad.mit.edu 37 11 120930796 120930797 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:120930796_120930797insA uc009zay.2 + 7 1034 c.956_splice c.e7+2 p.R319_splice TBCEL_uc001pxo.2_Splice_Site_p.R319_splice|TBCEL_uc001pxp.2_Splice_Site_p.R175_splice|TBCEL_uc001pxq.2_Splice_Site NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) GCCATTCAGGTAAAAAATTCCC 0.391 ABCC1 4363 broad.mit.edu 37 16 16165586 16165587 + Splice_Site INS - - GT TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:16165586_16165587insGT uc010bvi.2 + 14 2087 c.1912_splice c.e14+1 p.G638_splice ABCC1_uc010bvj.2_Splice_Site_p.G638_splice|ABCC1_uc010bvk.2_Splice_Site_p.G638_splice|ABCC1_uc010bvl.2_Splice_Site_p.G638_splice|ABCC1_uc010bvm.2_Splice_Site_p.G638_splice|ABCC1_uc002del.3_Splice_Site_p.G522_splice NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGTCAAAGACGGTGTGTGTGTG 0.569 CASZ1 54897 broad.mit.edu 37 1 10719759 10719760 + Splice_Site INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:10719758_10719759C>CT uc001aro.3 - 6 1660 c.1340_splice c.e6+1 p.K447_splice CASZ1_uc001arp.1_Splice_Site_p.K447_splice|CASZ1_uc009vmx.2_Splice_Site_p.K471_splice|CASZ1_uc001arq.1_Splice_Site_p.K306_splice NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GAGCGCCTTACTTGACAGTGGA 0.604 CACNA1S 779 broad.mit.edu 37 1 201035447 201035447 + Splice_Site DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:201035446_201035446TG>T uc001gvv.3 - 21 2885 c.2658_splice c.e21-1 p.E886_splice NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 886 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCACTGGACCTGGGGGGCGGC 0.647 ARID4B 51742 broad.mit.edu 37 1 235394506 235394507 + Splice_Site DEL TA TA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:235394505_235394506CTA>C uc021pks.1 - 10 1043 c.666_splice c.e10-1 p.F222_splice ARID4B_uc001hwq.3_Splice_Site_p.F222_splice|ARID4B_uc001hwr.3_Splice_Site_p.F222_splice|ARID4B_uc001hws.4_Splice_Site_p.F222_splice|ARID4B_uc001hwu.1_Splice_Site_p.F222_splice|ARID4B_uc001hwt.4_Splice_Site NM_001206794 NP_001193723 Q4LE39 ARI4B_HUMAN Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA. 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) AACTGAAGTACtatatattttt 0.292 SLC8A1 6546 broad.mit.edu 37 2 40401985 40401985 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:40401984_40401984TA>T uc002rrx.3 - 4 1961 c.1937_splice c.e4-1 p.G646_splice LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.G646_splice|SLC8A1_uc002rsb.2_Splice_Site_p.G638_splice|SLC8A1_uc002rrz.3_Splice_Site_p.G638_splice|SLC8A1_uc002rsa.3_Splice_Site_p.G638_splice|SLC8A1_uc002rsd.4_Splice_Site_p.G638_splice NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 646 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGAAGCCACCTAAAAAAGAAA 0.333 ACTR8 93973 broad.mit.edu 37 3 53910110 53910111 + Splice_Site INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:53910109_53910110T>TG uc003dhd.3 - 7 880 c.779_splice c.e7-1 p.G260_splice ACTR8_uc003dhb.3_Splice_Site_p.G10_splice|ACTR8_uc003dhc.3_Splice_Site_p.G149_splice NM_022899 NP_075050 Q9H981 ARP8_HUMAN Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA. 260 DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) CCACAATCCCTGGGGGGGGAAA 0.515 ATG3 64422 broad.mit.edu 37 3 112277267 112277267 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:112277266_112277266TA>T uc003dzd.3 - 2 183 c.73_splice c.e2-1 p.E25_splice ATG3_uc003dzc.3_Splice_Site_p.E25_splice|ATG3_uc010hqe.3_Splice_Site_p.E25_splice NM_022488 NP_071933 Q9NT62 ATG3_HUMAN Homo sapiens ATG3 autophagy related 3 homolog (S. cerevisiae) (ATG3), mRNA. 25 autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination cytoplasmic ubiquitin ligase complex|cytosol Atg12 ligase activity|Atg8 ligase activity|enzyme binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3) 9 CTTTGATTCCTAAAAAAAGCA 0.323 STAG1 10274 broad.mit.edu 37 3 136240262 136240263 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:136240261_136240262T>TA uc003era.1 - 7 764 c.472_splice c.e7-1 p.D158_splice STAG1_uc003erb.1_Splice_Site_p.D158_splice|STAG1_uc003erc.1_Splice_Site|STAG1_uc010hua.1_Splice_Site_p.D21_splice|STAG1_uc003ere.3_Splice_Site_p.D158_splice NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN Homo sapiens stromal antigen 1 (STAG1), mRNA. 158 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 ACCACTGTCCTAAAAAACAGAA 0.361 IGFBP7 3490 broad.mit.edu 37 4 57898593 57898593 + Splice_Site DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:57898592_57898592CT>C uc003hcn.3 - 4 863 c.829_splice c.e4+1 p.G277_splice IGFBP7_uc011cag.2_Frame_Shift_Del_p.G277fs NM_001553 NP_001544 Q16270 IBP7_HUMAN Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA. 277 PVKKGEGAEL -> ASEKR (in Ref. 1; AAA16187). cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|lung(3) 5 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TATTGTGTACCTTTTTTCACT 0.358 COL4A3BP 10087 broad.mit.edu 37 5 74696125 74696125 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:74696124_74696124TA>T uc011csu.2 - 10 1440 c.1018_splice c.e10-1 p.S340_splice COL4A3BP_uc003kds.3_Splice_Site_p.S340_splice|COL4A3BP_uc003kdt.3_Splice_Site_p.S468_splice|COL4A3BP_uc003kdu.2_Splice_Site_p.S340_splice NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA. 340 ER to Golgi ceramide transport|immune response Golgi apparatus|cytosol|endoplasmic reticulum membrane ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) ACTCTGTGACTAAAAAAACAT 0.368 GLRX 2745 broad.mit.edu 37 5 95152333 95152333 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:95152332_95152332TA>T uc021ybn.1 - 2 419 c.208_splice c.e2-1 p.V70_splice GLRX_uc003kln.4_Splice_Site_p.V70_splice|GLRX_uc003klo.4_Splice_Site_p.V70_splice|GLRX_uc021ybo.1_Splice_Site_p.V70_splice NM_001243659 NP_001230588 P35754 GLRX1_HUMAN Homo sapiens glutaredoxin (thioltransferase) (GLRX), transcript variant 4, mRNA. 70 Glutaredoxin. cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport cytosol electron carrier activity|glutathione disulfide oxidoreductase activity|protein N-terminus binding|protein disulfide oxidoreductase activity endometrium(3)|large_intestine(1)|lung(1) 5 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) TCGAGGCACCTAAAAAAGCAC 0.413 SLCO6A1 133482 broad.mit.edu 37 5 101755728 101755728 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:101755727_101755727TA>T uc003knn.3 - 8 1449 c.1277_splice c.e8-1 p.G426_splice SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 426 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AAACAAGTCCTAAAAAAAAGG 0.343 MLL3 58508 broad.mit.edu 37 7 151836879 151836879 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:151836878_151836878TA>T uc003wla.3 - 56 14563 c.14344_splice c.e56-1 p.G4782_splice MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 4782 SET. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 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) GCCCAGCCCCTAAAAAAAAGT 0.413 N medulloblastoma C9orf80 58493 broad.mit.edu 37 9 115456516 115456516 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:115456515_115456515TA>T uc004bgg.3 - 3 203 c.26_splice c.e3-1 p.G9_splice C9orf80_uc010muk.3_Splice_Site NM_021218 NP_067041 Q9NRY2 SOSSC_HUMAN Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA. 9 DNA repair|response to ionizing radiation SOSS complex protein binding p.?(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 4 TTTGAAAACCTAAAAAAAAGA 0.348 ZFP91 80829 broad.mit.edu 37 11 58377810 58377811 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:58377809_58377810T>TA uc001nmx.4 + 4 785 c.617_splice c.e4+2 p.S206_splice ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA. 206 Glu-rich. Missing (in Ref. 4; AAH51743). activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGGCATTAGGTAAAAAAAACAT 0.312 PGR 5241 broad.mit.edu 37 11 100962610 100962610 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:100962609_100962609TA>T uc001pgh.2 - 3 2533 c.1790_splice c.e3-1 p.G597_splice PGR_uc001pgi.2_Splice_Site_p.G597_splice|PGR_uc009yww.1_Splice_Site|PGR_uc001pgj.2_Splice_Site|PGR_uc009ywx.1_Intron NM_000926 NP_000917 P06401 PRGR_HUMAN Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA. 597 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TGTGCTGCCCTAAAAAAACAA 0.378 TBCEL 219899 broad.mit.edu 37 11 120930797 120930798 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:120930796_120930797T>TA uc001pxo.3 + 7 1161 c.956_splice c.e7+2 p.R319_splice TBCEL_uc009zay.3_Splice_Site_p.R319_splice|TBCEL_uc001pxp.3_Splice_Site_p.R175_splice|TBCEL_uc001pxq.3_Splice_Site NM_152715 NP_689928 Q5QJ74 TBCEL_HUMAN Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA. 319 cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) GCCATTCAGGTAAAAAATTCCC 0.391 MYO5C 55930 broad.mit.edu 37 15 52564923 52564923 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:52564922_52564922TA>T uc010bff.3 - 6 769 c.607_splice c.e6-1 p.A203_splice MYO5C_uc010uga.2_Splice_Site|MYO5C_uc010ugb.2_Splice_Site|MYO5C_uc010ugc.2_Splice_Site_p.A166_splice NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 203 Myosin head-like. myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCCAACGGCCTAAAAAAAATA 0.363 ABCC1 4363 broad.mit.edu 37 16 16165587 16165588 + Splice_Site INS - - GT TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:16165586_16165587G>GGT uc010bvi.3 + 14 2087 c.1912_splice c.e14+1 p.G638_splice ABCC1_uc010bvj.3_Splice_Site_p.G638_splice|ABCC1_uc010bvk.3_Splice_Site_p.G638_splice|ABCC1_uc010bvl.3_Splice_Site_p.G638_splice|ABCC1_uc010bvm.3_Splice_Site_p.G638_splice|ABCC1_uc002del.4_Splice_Site_p.G522_splice|ABCC1_uc021tdq.1_Intron|ABCC1_uc021tdr.1_Splice_Site_p.G95_splice NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 638 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGTCAAAGACGGTGTGTGTGTG 0.569 SPAG7 9552 broad.mit.edu 37 17 4864151 4864151 + Splice_Site DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:4864150_4864150TG>T uc002gae.3 - 2 119 c.86_splice c.e2-1 p.E29_splice SPAG7_uc002gaf.3_Splice_Site_p.E29_splice NM_004890 NP_004881 O75391 SPAG7_HUMAN Homo sapiens sperm associated antigen 7 (SPAG7), mRNA. 29 nucleus nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 CGGCCTGTTCTGGGGGTGAGA 0.512 CACNB1 782 broad.mit.edu 37 17 37341120 37341120 + Splice_Site DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:37341119_37341119TG>T uc002hrm.2 - 8 857 c.649_splice c.e8-1 p.T217_splice CACNB1_uc002hrl.1_Splice_Site|CACNB1_uc002hrn.3_Splice_Site_p.T217_splice|CACNB1_uc002hro.3_Splice_Site_p.T262_splice|CACNB1_uc002hrp.2_Intron NM_000723 NP_000714 Q02641 CACB1_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA. 217 T -> S (in Ref. 3; AAA36167). axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) ATGCTCTGTCTGGGGGGGGAA 0.627 SERPINB8 5271 broad.mit.edu 37 18 61652328 61652328 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:61652327_61652327GA>G uc002ljv.3 + 6 737 c.568_splice c.e6-1 p.E190_splice SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice NM_198833 NP_942130 P50452 SPB8_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA. 190 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TTTCCGTTAGGAAAAAAAGAC 0.373 VWA1 64856 broad.mit.edu 37 1 1372689 1372689 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:1372689delC uc001afs.2 + 2 676 c.456delC c.(454-456)GGCfs p.G152fs VWA1_uc001afr.2_Intron NM_022834 NP_073745 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 152 VWFA. basement membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACCCTGTGGGCCCCCCCATGC 0.647 RERE 473 broad.mit.edu 37 1 8420317 8420318 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:8420317_8420318insC uc001ape.2 - 19 4059_4060 c.3249_3250insG c.(3247-3252)GGGTCGfs p.G1083fs RERE_uc001apf.2_Frame_Shift_Ins_p.G1083fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.G815fs|RERE_uc001apd.2_Frame_Shift_Ins_p.G529fs NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1083_1084 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGGCAGGACGACCCCCCCGCTA 0.718 UBR4 23352 broad.mit.edu 37 1 19467923 19467923 + Frame_Shift_Del DEL G G - rs145307465 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:19467923delG uc001bbi.2 - 57 8410 c.8406delC c.(8404-8406)CCCfs p.P2802fs UBR4_uc001bbk.1_Frame_Shift_Del_p.P484fs NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2802 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) TGTCCAGCATGGGGGGGAAGC 0.587 ARID1A 8289 broad.mit.edu 37 1 27023769 27023769 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:27023769delC uc001bmv.1 + 1 1248 c.875delC c.(874-876)ACCfs p.T292fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.T292fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.T292fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 292 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCACCGCCACCCCCACCCTC 0.761 Mis|N|F|S|D clear cell ovarian carcinoma|RCC TRIT1 54802 broad.mit.edu 37 1 40312897 40312897 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:40312897delA uc010oiz.1 - 8 1015 c.1001delT c.(1000-1002)TTGfs p.L334fs TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Frame_Shift_Del_p.L30fs|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceh.3_Frame_Shift_Del_p.L88fs|TRIT1_uc009vvv.2_Intron|TRIT1_uc001cei.3_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceq.2_Frame_Shift_Del_p.L30fs|TRIT1_uc001cek.2_Frame_Shift_Del_p.L30fs|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Frame_Shift_Del_p.L252fs|TRIT1_uc001cen.2_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceo.2_Frame_Shift_Del_p.L88fs|TRIT1_uc001cep.2_Frame_Shift_Del_p.L88fs NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 334 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTTACTGCTCAAAAAACGGTT 0.368 CTSK 1513 broad.mit.edu 37 1 150778663 150778663 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:150778663delT uc001evp.1 - 3 282 c.158delA c.(157-159)AACfs p.N53fs CTSK_uc001evq.1_5'UTR|CTSK_uc009wma.1_RNA NM_000396 NP_000387 P43235 CATK_HUMAN cathepsin K preproprotein 53 proteolysis lysosome cysteine-type endopeptidase activity|protein binding skin(1) 1 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) ATACTTCAGGTTTTTTTCCCA 0.393 ASH1L 55870 broad.mit.edu 37 1 155448019 155448019 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:155448019delT uc009wqq.2 - 3 5122 c.4642delA c.(4642-4644)AGCfs p.S1548fs ASH1L_uc001fkt.2_Frame_Shift_Del_p.S1548fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.S1548fs NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1548 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) TTTATTAAGCTTTTTGAAGGA 0.458 ADCY10 55811 broad.mit.edu 37 1 167865906 167865906 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:167865906delG uc001ger.2 - 7 964 c.666delC c.(664-666)CCCfs p.P222fs ADCY10_uc009wvk.2_Frame_Shift_Del_p.P130fs|ADCY10_uc010plj.1_Frame_Shift_Del_p.P69fs|ADCY10_uc009wvl.2_Frame_Shift_Del_p.P221fs|ADCY10_uc009wvm.2_RNA NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 222 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 AATTAAAATTGGGGGGTGGTT 0.333 BLZF1 8548 broad.mit.edu 37 1 169351458 169351458 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:169351458delA uc001gfx.1 + 6 1393 c.956delA c.(955-957)CAAfs p.Q319fs BLZF1_uc001gfy.2_Frame_Shift_Del_p.Q319fs|BLZF1_uc009wvp.1_Intron NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 319 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) ATTAACAATCAAAAAAAGATT 0.383 CD55 1604 broad.mit.edu 37 1 207495788 207495788 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:207495788delT uc001hfq.3 + 2 456 c.162delT c.(160-162)AGTfs p.S54fs CD55_uc001hfp.3_Frame_Shift_Del_p.S54fs|CD55_uc001hfr.3_Frame_Shift_Del_p.S54fs|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Frame_Shift_Del_p.S54fs|CD55_uc009xce.2_Frame_Shift_Del_p.S54fs NM_000574 NP_000565 P08174 DAF_HUMAN decay accelerating factor for complement isoform 54 Sushi 1. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity ovary(1) 1 Chloramphenicol(DB00446) GCCGTACAAGTTTTCCCGAGG 0.468 PLXNA2 5362 broad.mit.edu 37 1 208391087 208391087 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:208391087delC uc001hgz.2 - 2 939 c.181delG c.(181-183)GCCfs p.A61fs PLXNA2_uc001hha.3_Frame_Shift_Del_p.A115fs NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 61 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) ACATAGACGGCCCCCGTCCCT 0.592 LAMB3 3914 broad.mit.edu 37 1 209803202 209803202 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:209803202delC uc001hhg.2 - 9 1402 c.1012delG c.(1012-1014)GCAfs p.A338fs LAMB3_uc009xco.2_Frame_Shift_Del_p.A338fs|LAMB3_uc001hhh.2_Frame_Shift_Del_p.A338fs|LAMB3_uc010psl.1_RNA NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 338 Laminin EGF-like 2. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCTCCATATGCCCCCTGGCTG 0.567 GPATCH2 55105 broad.mit.edu 37 1 217793264 217793264 + Frame_Shift_Del DEL T T - rs71763020 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:217793264delT uc001hlf.1 - 2 730 c.634delA c.(634-636)AGAfs p.R212fs GPATCH2_uc001hlg.3_Frame_Shift_Del_p.R212fs NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 212 intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) TTCAACTTTCTTTTTTTGACT 0.398 ZNF124 7678 broad.mit.edu 37 1 247319909 247319909 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:247319909delT uc001ick.2 - 4 1154 c.1015delA c.(1015-1017)ACTfs p.T339fs ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs NM_003431 NP_003422 Q15973 ZN124_HUMAN zinc finger protein 124 339 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) CCAGTATGAGTTTTTTTATGC 0.368 DCLRE1C 64421 broad.mit.edu 37 10 14950433 14950433 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:14950433delT uc001inn.2 - 14 2138 c.2053delA c.(2053-2055)AGAfs p.R685fs DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Frame_Shift_Del_p.R338fs|DCLRE1C_uc001inl.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc009xji.2_Frame_Shift_Del_p.R570fs|DCLRE1C_uc001inm.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001ino.2_Frame_Shift_Del_p.R570fs|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001inq.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001inr.2_Frame_Shift_Del_p.R570fs NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 685 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 GAGCATTTTCTTTTTTTGACT 0.269 Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ MYO3A 53904 broad.mit.edu 37 10 26457756 26457756 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:26457756delA uc001isn.2 + 28 3587 c.3227delA c.(3226-3228)CAAfs p.Q1076fs MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1076 IQ 1. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 AGAAGATACCAAAAAATACAG 0.323 AGAP7 653268 broad.mit.edu 37 10 51465538 51465538 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:51465538delT uc001jio.2 - 7 1044 c.918delA c.(916-918)AAAfs p.K306fs PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 306 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 GGTCAATCTCTTTTTTATGAA 0.443 MYPN 84665 broad.mit.edu 37 10 69926167 69926167 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:69926167delC uc001jnm.3 + 11 1902 c.1717delC c.(1717-1719)CCCfs p.P573fs MYPN_uc001jnl.1_Frame_Shift_Del_p.P573fs|MYPN_uc001jnn.3_Frame_Shift_Del_p.P298fs|MYPN_uc001jno.3_Frame_Shift_Del_p.P573fs|MYPN_uc009xps.2_Frame_Shift_Del_p.P573fs|MYPN_uc009xpt.2_Frame_Shift_Del_p.P573fs|MYPN_uc010qit.1_Frame_Shift_Del_p.P279fs|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 573 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 TGTGGAACAACCCCCCAAACC 0.577 NDST2 8509 broad.mit.edu 37 10 75567574 75567575 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:75567574_75567575insA uc001jvk.2 - 3 1376_1377 c.572_573insT c.(571-573)TTAfs p.L191fs NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Frame_Shift_Ins_p.L68fs|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Frame_Shift_Ins_p.L68fs NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 191 Lumenal (Potential).|Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) AGTTTGAGTGTAAAAAAAGGGG 0.589 TLX1 3195 broad.mit.edu 37 10 102893955 102893955 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:102893955delC uc001ksw.2 + 2 830 c.592delC c.(592-594)CCCfs p.P198fs NM_005521 NP_005512 P31314 TLX1_HUMAN T-cell leukemia homeobox 1 198 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GAACCGGACGCCCCCCAAGAA 0.627 T TRB@|TRD@ T-ALL ADRA2A 150 broad.mit.edu 37 10 112839027 112839029 + In_Frame_Del DEL TTC TTC - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:112839027_112839029delTTC uc001kzo.2 + 1 2238_2240 c.1273_1275delTTC c.(1273-1275)TTCdel p.F427del NM_000681 NP_000672 P08913 ADA2A_HUMAN alpha-2A-adrenergic receptor 412 Helical; Name=7; (By similarity). F->N: 350-fold reduced affinity for alpha-2 antagonist yohimbine, 3000-fold increase for beta-antagonist alprenolol. actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding 0 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) GCTCTTCAAATTCTTCTTCTGGT 0.576 TACC2 10579 broad.mit.edu 37 10 123842738 123842738 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:123842738delG uc001lfv.2 + 4 1083 c.723delG c.(721-723)CAGfs p.Q241fs TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Frame_Shift_Del_p.Q241fs|TACC2_uc010qtv.1_Frame_Shift_Del_p.Q241fs NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 241 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) AGTCCAGGCAGGGGGTGGCTT 0.617 DOCK1 1793 broad.mit.edu 37 10 129237392 129237392 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:129237392delA uc001ljt.2 + 49 5163 c.5099delA c.(5098-5100)GAAfs p.E1700fs DOCK1_uc010qun.1_Frame_Shift_Del_p.E1721fs|DOCK1_uc009yaq.2_Frame_Shift_Del_p.E695fs NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1700 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) aagaagaaggaaaaaaggaaC 0.393 PAX6 5080 broad.mit.edu 37 11 31812317 31812317 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:31812317delG uc001mtd.3 - 11 2014 c.1124delC c.(1123-1125)CCAfs p.P375fs PAX6_uc001mte.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.3_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.3_Frame_Shift_Del_p.P375fs|PAX6_uc009yjr.2_Frame_Shift_Del_p.P375fs NM_001127612 NP_001121084 P26367 PAX6_HUMAN paired box gene 6 isoform a 375 Pro/Ser/Thr-rich. P -> Q (in AN; reduced DNA binding ability). blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 9 Lung SC(675;0.225) CTGCATATGTGGGGGGGTGTA 0.587 Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation OR5M3 219482 broad.mit.edu 37 11 56237709 56237709 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:56237709delT uc010rjk.1 - 1 265 c.265delA c.(265-267)ACAfs p.T89fs NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TAAGTAATTGTTTTTTTATCT 0.363 SMTNL1 219537 broad.mit.edu 37 11 57310315 57310316 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:57310315_57310316insG uc009ymh.1 + 2 254_255 c.254_255insG c.(253-255)CAGfs p.Q85fs NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 67 ovary(1) 1 GCAGAACTCCAGGGGGAAGCAA 0.535 OR5B3 441608 broad.mit.edu 37 11 58170465 58170466 + Frame_Shift_Del DEL CA CA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:58170465_58170466delCA uc010rkf.1 - 1 417_418 c.417_418delTG c.(415-420)TGTGCTfs p.C139fs NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 139_140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCCAGACGAGCACACACAGTTG 0.495 GPR137 56834 broad.mit.edu 37 11 64055217 64055217 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:64055217delG uc001nzg.1 + 4 740 c.432delG c.(430-432)GTGfs p.V144fs GPR137_uc009ypj.1_Frame_Shift_Del_p.V150fs|GPR137_uc010rni.1_Frame_Shift_Del_p.V202fs|GPR137_uc001nze.1_Frame_Shift_Del_p.V144fs|GPR137_uc001nzf.2_Frame_Shift_Del_p.V144fs|GPR137_uc001nzh.1_Frame_Shift_Del_p.V144fs|GPR137_uc001nzi.2_Frame_Shift_Del_p.V144fs|GPR137_uc010rnj.1_Frame_Shift_Del_p.V144fs NM_020155 NP_064540 Q96N19 G137A_HUMAN G protein-coupled receptor 137 144 Helical; (Potential). integral to membrane central_nervous_system(1) 1 GGGCCTTTGTGGGGGCCTCGC 0.677 NADSYN1 55191 broad.mit.edu 37 11 71192975 71192975 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:71192975delT uc001oqn.2 + 13 1180 c.1054delT c.(1054-1056)TTTfs p.F352fs NADSYN1_uc001oqo.2_Frame_Shift_Del_p.F92fs|NADSYN1_uc001oqp.2_5'UTR NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 352 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAGGCAGGGTTTTTGCTGCC 0.612 RSF1 51773 broad.mit.edu 37 11 77413116 77413116 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:77413116delT uc001oyn.2 - 6 1278 c.1158delA c.(1156-1158)AAAfs p.K386fs RSF1_uc001oym.2_Frame_Shift_Del_p.K134fs NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 386 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TAATTTCTCGTTTTTTTAGTG 0.338 DDX6 1656 broad.mit.edu 37 11 118629513 118629513 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:118629513delT uc001pub.2 - 9 1324 c.963delA c.(961-963)AAAfs p.K321fs DDX6_uc001pua.2_Frame_Shift_Del_p.K21fs|DDX6_uc001puc.2_Frame_Shift_Del_p.K321fs NM_004397 NP_004388 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 321 Helicase C-terminal. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity ovary(1) 1 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) GGCAGTGTACTTTTTGGCGCT 0.413 T IGH@ B-NHL TBCEL 219899 broad.mit.edu 37 11 120930796 120930797 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:120930796_120930797insA uc009zay.2 + 7 1034 c.956_splice c.e7+2 p.R319_splice TBCEL_uc001pxo.2_Splice_Site_p.R319_splice|TBCEL_uc001pxp.2_Splice_Site_p.R175_splice|TBCEL_uc001pxq.2_Splice_Site NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) GCCATTCAGGTAAAAAATTCCC 0.391 C1R 715 broad.mit.edu 37 12 7187997 7187997 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:7187997delC uc010sfy.1 - 10 2016 c.1957delG c.(1957-1959)GATfs p.D653fs NM_001733 NP_001724 P00736 C1R_HUMAN complement component 1, r subcomponent 653 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity 0 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCCCCACTATCCCCCTGGCAG 0.577 C1R 715 broad.mit.edu 37 12 7242010 7242010 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:7242010delG uc010sfy.1 - 5 706 c.647delC c.(646-648)CCTfs p.P216fs C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs NM_001733 NP_001724 P00736 C1R_HUMAN complement component 1, r subcomponent 216 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity 0 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCGCAGGTCAGGGGGGTAGGA 0.597 ATF7IP 55729 broad.mit.edu 37 12 14577801 14577802 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:14577801_14577802insA uc001rbw.2 + 2 1110_1111 c.952_953insA c.(952-954)GAAfs p.E318fs ATF7IP_uc010shs.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbu.2_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbx.2_Frame_Shift_Ins_p.E318fs|ATF7IP_uc010sht.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rby.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbz.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rca.2_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rcb.2_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 318 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 TGATTTTCTTGAAAAAAATGGA 0.317 ART4 420 broad.mit.edu 37 12 14993875 14993876 + Frame_Shift_Del DEL GT GT - rs144350521 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:14993875_14993876delGT uc001rcl.1 - 2 722_723 c.356_357delAC c.(355-357)CACfs p.H119fs ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Frame_Shift_Del_p.H119fs NM_021071 NP_066549 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 precursor 119 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity 0 TAGCCACAGCGTGTGTGGTAGT 0.436 MLL2 8085 broad.mit.edu 37 12 49443667 49443667 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:49443667delC uc001rta.3 - 11 3704 c.3704delG c.(3703-3705)GGTfs p.G1235fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1235 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 CAGGGAGCCACCCCCCTCCGG 0.592 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) MLL2 8085 broad.mit.edu 37 12 49448408 49448408 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:49448408delC uc001rta.3 - 3 303 c.303delG c.(301-303)GGGfs p.G101fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 101 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 GCCCTGGGCTCCCCCCAGGGG 0.622 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) SRGAP1 57522 broad.mit.edu 37 12 64377821 64377821 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:64377821delA uc010ssp.1 + 2 218 c.162delA c.(160-162)CGAfs p.R54fs SRGAP1_uc001srt.2_Frame_Shift_Del_p.R54fs|SRGAP1_uc001srv.2_Frame_Shift_Del_p.R14fs NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 54 FCH. axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) ATTTCTTCCGAAAAAAAGCTG 0.418 HMGA2 8091 broad.mit.edu 37 12 66221835 66221835 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:66221835delA uc001ssx.2 + 2 977 c.166delA c.(166-168)AAAfs p.K56fs RPSAP52_uc001sso.2_5'Flank|HMGA2_uc001ssw.1_Frame_Shift_Del_p.K56fs|HMGA2_uc001ssp.1_RNA|HMGA2_uc010ssv.1_RNA|HMGA2_uc001sss.1_RNA|HMGA2_uc001sst.1_Frame_Shift_Del_p.K56fs|HMGA2_uc001ssu.1_Frame_Shift_Del_p.K56fs|HMGA2_uc001ssv.2_Frame_Shift_Del_p.K56fs NM_003483 NP_003474 P52926 HMGA2_HUMAN high mobility group AT-hook 2 isoform a 56 Interaction with E4F1. cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent chromatin AT DNA binding HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/RAD51B(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2) soft_tissue(159)|bone(27)|salivary_gland(22) 208 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) CAAAGGCAGCAAAAACAAGAG 0.463 T LHFP|RAD51L1|LPP|HEI10|COX6C|CMKOR1|NFIB|ALDH2|CCNB1IP1|EBF1|WIF1|FHIT lipoma|leiomyoma|pleiomorphic salivary gland adenoma BBS10 79738 broad.mit.edu 37 12 76740960 76740960 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:76740960delA uc001syd.1 - 2 889 c.805delT c.(805-807)TCCfs p.S269fs NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 269 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding ovary(1)|skin(1) 2 CCAGAAGTGGAAAAAAGAGGC 0.383 Bardet-Biedl_syndrome LRRIQ1 84125 broad.mit.edu 37 12 85449618 85449618 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:85449618delA uc001tac.2 + 8 1158 c.1047delA c.(1045-1047)AGAfs p.R349fs LRRIQ1_uc001tab.1_Frame_Shift_Del_p.R349fs|LRRIQ1_uc001taa.1_Frame_Shift_Del_p.R324fs NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 349 Glu-rich. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) aagaagagagaaaaaagcaaa 0.070 MVK 4598 broad.mit.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:110019240delC uc001toy.3 + 5 596 c.412delC c.(412-414)CCCfs p.P138fs MVK_uc009zvk.2_Frame_Shift_Del_p.P138fs|MVK_uc010sxr.1_Intron|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA NM_001114185 NP_001107657 Q03426 KIME_HUMAN mevalonate kinase 138 ATP (By similarity). cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity 0 GTCGGAGCTGCCCCCCGGGGC 0.667 WSB2 55884 broad.mit.edu 37 12 118481123 118481123 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:118481123delC uc001twr.2 - 3 340 c.242delG c.(241-243)GGCfs p.G81fs WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Frame_Shift_Del_p.G81fs NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN WD SOCS-box protein 2 81 intracellular signal transduction ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTTTGGGCTGCCCCGCCCTTT 0.542 PARP4 143 broad.mit.edu 37 13 25030500 25030500 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:25030500delT uc001upl.2 - 21 2647 c.2541delA c.(2539-2541)AAAfs p.K847fs PARP4_uc010tdc.1_Frame_Shift_Del_p.K847fs NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 847 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TTTCTGGATGTTTTTCAACCC 0.398 WASF3 10810 broad.mit.edu 37 13 27246073 27246074 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:27246073_27246074insA uc001uqv.2 + 6 712_713 c.487_488insA c.(487-489)GAAfs p.E163fs WASF3_uc001uqw.2_Frame_Shift_Ins_p.E163fs NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 163 Potential. actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CCTCTGGAAAGAAAAAATGCTA 0.371 FLT3 2322 broad.mit.edu 37 13 28601359 28601359 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:28601359delA uc001urw.2 - 17 2155 c.2073delT c.(2071-2073)TTTfs p.F691fs FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Frame_Shift_Del_p.F691fs NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 691 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AACAGTATTCAAAAATCAAGT 0.328 Mis|O AML|ALL ZC3H13 23091 broad.mit.edu 37 13 46577338 46577338 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:46577338delT uc010tfw.1 - 7 886 c.880delA c.(880-882)ACAfs p.T294fs ZC3H13_uc001vas.1_Frame_Shift_Del_p.T294fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.T294fs NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 294 nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05) CCATCTCTTGTTTTTTCTTCT 0.368 MYCBP2 23077 broad.mit.edu 37 13 77765900 77765900 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:77765900delC uc001vkf.2 - 29 3961 c.3870delG c.(3868-3870)GGGfs p.G1290fs MYCBP2_uc010aev.2_Frame_Shift_Del_p.G694fs NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CATACCACCACCCAGCTTGCA 0.443 NYNRIN 57523 broad.mit.edu 37 14 24877215 24877215 + Frame_Shift_Del DEL C C - rs10148781 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:24877215delC uc001wpf.3 + 3 657 c.339delC c.(337-339)GGCfs p.G113fs NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 113 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 TGGTGCCTGGCCCCCCTGGCT 0.657 ARHGAP5 394 broad.mit.edu 37 14 32562545 32562545 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:32562545delT uc001wrl.2 + 2 2909 c.2670delT c.(2668-2670)GATfs p.D890fs ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 890 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GCCAAGCAGATTTTTTTGAAA 0.403 ARHGAP5 394 broad.mit.edu 37 14 32562675 32562675 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:32562675delT uc001wrl.2 + 2 3039 c.2800delT c.(2800-2802)TTTfs p.F934fs ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.F934fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.F934fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 934 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CTTTACTCTGTTTTTTAGTGA 0.333 KIF26A 26153 broad.mit.edu 37 14 104633326 104633326 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:104633326delC uc001yos.3 + 5 1054 c.1054delC c.(1054-1056)CCCfs p.P352fs NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 352 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GCCCCCGGCGCCCCCCTGCCT 0.731 MTA1 9112 broad.mit.edu 37 14 105930432 105930432 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:105930432delG uc001yqx.2 + 13 1327 c.1140delG c.(1138-1140)ACGfs p.T380fs MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Frame_Shift_Del_p.T141fs NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 380 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) TGAACGGCACGGGGGCGCCGG 0.642 MFAP1 4236 broad.mit.edu 37 15 44106833 44106834 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:44106833_44106834insT uc001zth.1 - 4 666_667 c.482_483insA c.(481-483)AATfs p.N161fs NM_005926 NP_005917 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 161 microfibril skin(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) CCATCTCTTCATTTTTTCTCTC 0.460 PIGB 9488 broad.mit.edu 37 15 55611484 55611484 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:55611484delG uc002act.2 + 1 352 c.36delG c.(34-36)CCGfs p.P12fs uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 12 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) GAATGGAGCCGGGGGGCGGAG 0.577 LOXL1 4016 broad.mit.edu 37 15 74235283 74235285 + In_Frame_Del DEL GGA GGA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:74235283_74235285delGGA uc002awc.1 + 2 1527_1529 c.1191_1193delGGA c.(1189-1194)GCGGAG>GCG p.E399del NM_005576 NP_005567 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 preproprotein 399 Lysyl-oxidase like. protein deamination extracellular space copper ion binding 0 GCTGTGCTGCGGAGGAGAAGTGT 0.596 ABCC1 4363 broad.mit.edu 37 16 16165586 16165587 + Splice_Site INS - - GT TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:16165586_16165587insGT uc010bvi.2 + 14 2087 c.1912_splice c.e14+1 p.G638_splice ABCC1_uc010bvj.2_Splice_Site_p.G638_splice|ABCC1_uc010bvk.2_Splice_Site_p.G638_splice|ABCC1_uc010bvl.2_Splice_Site_p.G638_splice|ABCC1_uc010bvm.2_Splice_Site_p.G638_splice|ABCC1_uc002del.3_Splice_Site_p.G522_splice NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGTCAAAGACGGTGTGTGTGTG 0.569 APOB48R 55911 broad.mit.edu 37 16 28508985 28508985 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:28508985delG uc002dqb.1 + 3 2606 c.2596delG c.(2596-2598)GGGfs p.G866fs uc010vct.1_Intron|APOB48R_uc010byg.1_Frame_Shift_Del_p.G404fs NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 866 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 GGTGGAGGCTGGGGGGCTTCT 0.627 ZNF48 197407 broad.mit.edu 37 16 30409310 30409310 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:30409310delC uc002dya.1 + 2 798 c.739delC c.(739-741)CCCfs p.P247fs ZNF48_uc002dxz.1_Frame_Shift_Del_p.P124fs NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGGGGAGCAGCCCCCCCGACC 0.637 PRSS36 146547 broad.mit.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:31151942delG uc002ebd.2 - 13 2097 c.2038delC c.(2038-2040)CTGfs p.L680fs PRSS36_uc010vff.1_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.1_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.1_Intron NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 680 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 AGGAGGGCCAGGGGGGGCCTG 0.726 IRX3 79191 broad.mit.edu 37 16 54319087 54319087 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:54319087delC uc002eht.1 - 2 1122 c.706delG c.(706-708)GAGfs p.E236fs NM_024336 NP_077312 P78415 IRX3_HUMAN iroquois homeobox 3 236 Asp/Glu-rich (acidic). multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 tcctcctcctcccccccgagc 0.284 CX3CL1 6376 broad.mit.edu 37 16 57416105 57416105 + Frame_Shift_Del DEL G G - rs147669719 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:57416105delG uc002eli.2 + 3 422 c.355delG c.(355-357)GGGfs p.G119fs NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 119 Mucin-like stalk.|Extracellular (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 CCCTGCCGCCGGGGGAATGGA 0.647 PLA2G15 23659 broad.mit.edu 37 16 68279440 68279440 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:68279440delC uc002evr.2 + 1 194 c.111delC c.(109-111)CACfs p.H37fs PLA2G15_uc010vld.1_Frame_Shift_Del_p.H37fs|PLA2G15_uc010vle.1_Frame_Shift_Del_p.H37fs|PLA2G15_uc010vlf.1_Frame_Shift_Del_p.H37fs NM_012320 NP_036452 Q8NCC3 PAG15_HUMAN lysophospholipase 3 (lysosomal phospholipase A2) 37 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding ovary(1) 1 CCGGACGTCACCCCCCAGTGG 0.711 SNTB2 6645 broad.mit.edu 37 16 69317980 69317980 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:69317980delC uc002ewu.2 + 5 1198 c.1178delC c.(1177-1179)TCCfs p.S393fs NM_006750 NP_006741 Q13425 SNTB2_HUMAN basic beta 2 syntrophin 393 PH 2. cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane actin binding|calmodulin binding|protein binding 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) GGATGTCGATCCCCCTCCCTT 0.483 ZDHHC7 55625 broad.mit.edu 37 16 85010039 85010039 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:85010039delG uc002fiq.2 - 8 1190 c.837delC c.(835-837)CCCfs p.P279fs ZDHHC7_uc010voi.1_Frame_Shift_Del_p.P316fs|ZDHHC7_uc002fir.1_RNA NM_017740 NP_060210 Q9NXF8 ZDHC7_HUMAN zinc finger, DHHC-type containing 7 isoform 2 279 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(1) 1 AGAGGAGTGAGGGGGGCCCCC 0.587 PER1 5187 broad.mit.edu 37 17 8050889 8050889 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:8050889delG uc002gkd.2 - 12 1634 c.1396delC c.(1396-1398)CTGfs p.L466fs PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Frame_Shift_Del_p.L450fs NM_002616 NP_002607 O15534 PER1_HUMAN period 1 466 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 TCCTCATTCAGGGGGGCCCTG 0.657 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes SEZ6 124925 broad.mit.edu 37 17 27296914 27296914 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:27296914delC uc002hdp.2 - 4 1109 c.915delG c.(913-915)GGGfs p.G305fs SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Frame_Shift_Del_p.G305fs|SEZ6_uc002hdq.1_Frame_Shift_Del_p.G180fs|SEZ6_uc010crz.1_Frame_Shift_Del_p.G305fs NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 305 Extracellular (Potential). integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GTGGGTCAGGCCCCCCCAGGC 0.612 SRCIN1 80725 broad.mit.edu 37 17 36707452 36707452 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:36707452delG uc002hqd.2 - 15 3126 c.2901delC c.(2899-2901)CCCfs p.P967fs SRCIN1_uc002hqf.1_Frame_Shift_Del_p.P839fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.P821fs NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 839 Pro-rich. exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 GGGGGGCCTTGGGGGGCTTGT 0.672 ABCA10 10349 broad.mit.edu 37 17 67189694 67189694 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:67189694delT uc010dfa.1 - 15 2460 c.1581delA c.(1579-1581)AAAfs p.K527fs ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Frame_Shift_Del_p.K128fs NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 527 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CACCACTTAATTTTTTAGCAA 0.289 RECQL5 9400 broad.mit.edu 37 17 73625328 73625328 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:73625328delC uc010dgl.2 - 16 2331 c.2175delG c.(2173-2175)GGGfs p.G725fs RECQL5_uc010dgk.2_Frame_Shift_Del_p.G698fs|RECQL5_uc002jot.3_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 725 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGGGGAGGGCCCCCCATAGT 0.672 Other_identified_genes_with_known_or_suspected_DNA_repair_function MYL12A 10627 broad.mit.edu 37 18 3255845 3255845 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:3255845delA uc002klr.2 + 4 840 c.445delA c.(445-447)AAAfs p.K149fs MYL12A_uc002kls.2_Frame_Shift_Del_p.K155fs NM_006471 NP_006462 P19105 ML12A_HUMAN myosin, light chain 12A, regulatory, 149 EF-hand 3. myosin complex calcium ion binding|protein binding 0 ACCTATTGATAAAAAGGGGAA 0.433 TSHZ1 10194 broad.mit.edu 37 18 72998443 72998443 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:72998443delC uc002lly.2 + 2 1509 c.946delC c.(946-948)CCCfs p.P316fs NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 361 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGACCTGGCGCCCCCCTGCTC 0.597 PARD6G 84552 broad.mit.edu 37 18 77918406 77918406 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:77918406delG uc002lny.2 - 3 545 c.379delC c.(379-381)CGGfs p.R127fs LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron NM_032510 NP_115899 Q9BYG4 PAR6G_HUMAN PAR-6 gamma protein 127 Interaction with PARD3 and CDC42 (By similarity). cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding 0 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) GCACGCCGCCGGGGTCCTTCA 0.726 C19orf26 255057 broad.mit.edu 37 19 1231206 1231206 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:1231206delC uc002lrm.2 - 9 1305 c.1030delG c.(1030-1032)GATfs p.D344fs NM_152769 NP_689982 Q8N350 DOS_HUMAN downstream of Stk11 370 integral to membrane 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGGGGCATCCCCCTCCTCC 0.711 HNSCC(14;0.022) SAFB 6294 broad.mit.edu 37 19 5667115 5667115 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:5667115delG uc002mcf.2 + 18 2446 c.2393delG c.(2392-2394)TGGfs p.W798fs SAFB_uc002mcg.2_Frame_Shift_Del_p.W798fs|SAFB_uc002mce.3_Frame_Shift_Del_p.W797fs|SAFB_uc010xir.1_Frame_Shift_Del_p.W797fs|SAFB_uc010xis.1_Frame_Shift_Del_p.W729fs|SAFB_uc010xit.1_Frame_Shift_Del_p.W640fs|SAFB_uc010xiu.1_Frame_Shift_Del_p.W597fs NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 798 Interaction with SAFB2.|Arg-rich.|Gly-rich. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) CGCGATGGCTGGGGGGGCTAT 0.642 TMEM146 257062 broad.mit.edu 37 19 5754227 5754227 + Frame_Shift_Del DEL C C - rs116784915 by1000genomes TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:5754227delC uc002mda.2 + 13 1310 c.1249delC c.(1249-1251)CCCfs p.P417fs TMEM146_uc010duj.1_Frame_Shift_Del_p.P75fs NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 417 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTCGTTGATACCCCAGCCAGG 0.458 OR7G2 390882 broad.mit.edu 37 19 9213598 9213599 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:9213598_9213599insA uc010xkk.1 - 1 384_385 c.384_385insT c.(382-387)TTTGCTfs p.F128fs NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 107_108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCCAAGCCAGCAAAAAACAAGA 0.510 CACNA1A 773 broad.mit.edu 37 19 13373629 13373629 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:13373629delT uc010dze.2 - 25 4247 c.4011delA c.(4009-4011)AAAfs p.K1337fs CACNA1A_uc010xnd.1_Frame_Shift_Del_p.K42fs|CACNA1A_uc002mwx.3_Frame_Shift_Del_p.K42fs|CACNA1A_uc010dzc.2_Frame_Shift_Del_p.K862fs|CACNA1A_uc002mwy.3_Frame_Shift_Del_p.K1336fs|CACNA1A_uc010xne.1_Frame_Shift_Del_p.K865fs NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1337 III.|Extracellular (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGTTGATGTCTTTTCCTTTGC 0.527 OREG0025294 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KCNN1 3780 broad.mit.edu 37 19 18084793 18084793 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:18084793delC uc002nht.2 + 3 406 c.96delC c.(94-96)CACfs p.H32fs KCNN1_uc010xqa.1_Frame_Shift_Del_p.H32fs NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 32 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 AGGCCGGCCACCCCCCACAAC 0.746 ELL 8178 broad.mit.edu 37 19 18561518 18561519 + Frame_Shift_Del DEL CA CA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:18561518_18561519delCA uc002njh.2 - 8 1305_1306 c.1233_1234delTG c.(1231-1236)TGTGAGfs p.C411fs ELL_uc010ebq.2_Frame_Shift_Del_p.C354fs|ELL_uc002njg.2_Frame_Shift_Del_p.C278fs NM_006532 NP_006523 P55199 ELL_HUMAN elongation factor RNA polymerase II 411_412 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding lung(1) 1 GBM - Glioblastoma multiforme(1328;7.81e-07) TCTCCGTGCTCACAGTCTCGGC 0.738 T MLL AL FKBP8 23770 broad.mit.edu 37 19 18649226 18649226 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:18649226delG uc002njk.1 - 5 682 c.569delC c.(568-570)CCGfs p.P190fs FKBP8_uc002nji.1_Frame_Shift_Del_p.P28fs|FKBP8_uc010xqi.1_Frame_Shift_Del_p.P219fs|FKBP8_uc002njj.1_Frame_Shift_Del_p.P191fs|FKBP8_uc002njl.1_Frame_Shift_Del_p.P191fs|FKBP8_uc002njm.1_Frame_Shift_Del_p.P190fs|FKBP8_uc010ebr.1_Frame_Shift_Del_p.P29fs|FKBP8_uc002njn.2_RNA NM_012181 NP_036313 Q14318 FKBP8_HUMAN FK506-binding protein 8 190 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding ovary(1) 1 GGCCGCGTGCGGGGGGATGTA 0.682 MLL4 9757 broad.mit.edu 37 19 36223002 36223002 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:36223002delG uc010eei.2 + 28 5631 c.5631delG c.(5629-5631)TTGfs p.L1877fs NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1877 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGAGGCCCTTGGGGGGTGTCT 0.672 SIPA1L3 23094 broad.mit.edu 37 19 38610300 38610300 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:38610300delG uc002ohk.2 + 9 3155 c.2646delG c.(2644-2646)CAGfs p.Q882fs NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 882 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ACTACGCCCAGGGGGTGGAAA 0.572 RELB 5971 broad.mit.edu 37 19 45515357 45515357 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:45515357delC uc002paj.1 + 5 453 c.327delC c.(325-327)TGCfs p.C109fs NM_006509 NP_006500 Q01201 RELB_HUMAN reticuloendotheliosis viral oncogene homolog B 109 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) CTTGGGGCTGCCCCCTGGGCC 0.766 FBXO46 23403 broad.mit.edu 37 19 46216274 46216274 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:46216274delG uc002pcy.2 - 2 605 c.480delC c.(478-480)CCCfs p.P160fs FBXO46_uc002pcz.2_Frame_Shift_Del_p.P160fs NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN F-box protein 46 160 protein binding ovary(1)|lung(1)|breast(1) 3 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) CGGCTGAGGCGGGGCCCTCCT 0.706 IRF2BP1 26145 broad.mit.edu 37 19 46388666 46388666 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:46388666delG uc002pds.1 - 1 711 c.367delC c.(367-369)CTGfs p.L123fs NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) GGCGAGGGCAGGGGGAGGCGG 0.751 CABP5 56344 broad.mit.edu 37 19 48537535 48537535 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:48537535delG uc002phu.1 - 5 558 c.433delC c.(433-435)CGGfs p.R145fs NM_019855 NP_062829 Q9NP86 CABP5_HUMAN calcium binding protein 5 145 EF-hand 4. signal transduction cytoplasm calcium ion binding skin(1) 1 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) GAGATCTCCCGGGGGGTGAGC 0.592 SPHK2 56848 broad.mit.edu 37 19 49131529 49131530 + Frame_Shift_Ins INS - - G rs142182513 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:49131529_49131530insG uc002pjr.2 + 6 1233_1234 c.867_868insG c.(865-870)CACGGGfs p.H289fs SPHK2_uc010xzt.1_Frame_Shift_Ins_p.H230fs|SPHK2_uc002pjs.2_Frame_Shift_Ins_p.H289fs|SPHK2_uc002pjt.2_Frame_Shift_Ins_p.H83fs|SPHK2_uc002pju.2_Frame_Shift_Ins_p.H253fs|SPHK2_uc002pjv.2_Frame_Shift_Ins_p.H253fs|SPHK2_uc002pjw.2_Frame_Shift_Ins_p.H351fs|SPHK2_uc010xzu.1_Frame_Shift_Ins_p.H253fs NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 289_290 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TGAACCAGCACGGGGGGTAGGT 0.624 ZNF264 9422 broad.mit.edu 37 19 57724155 57724155 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:57724155delA uc002qob.2 + 4 2103 c.1690delA c.(1690-1692)AAAfs p.K564fs NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) GCATACTGGGAAAAATCCCAT 0.443 SPTBN1 6711 broad.mit.edu 37 2 54895695 54895695 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:54895695delA uc002rxu.2 + 36 7333 c.7084delA c.(7084-7086)AAAfs p.K2362fs SPTBN1_uc010you.1_Frame_Shift_Del_p.K352fs NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 2362 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) CCTTTTTGGCAAAAAGAAATG 0.502 CCDC88A 55704 broad.mit.edu 37 2 55561924 55561925 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:55561924_55561925insT uc002ryv.2 - 15 2874_2875 c.2032_2033insA c.(2032-2034)ACAfs p.T678fs CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 678 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 GCTATCCAATGTTTTTTTTAAT 0.287 EHBP1 23301 broad.mit.edu 37 2 63176204 63176205 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:63176204_63176205insA uc002sby.2 + 14 2810_2811 c.2328_2329insA c.(2326-2331)AAGAAAfs p.K776fs EHBP1_uc010fcp.2_Frame_Shift_Ins_p.K741fs|EHBP1_uc002sbz.2_Frame_Shift_Ins_p.K741fs|EHBP1_uc002scb.2_Frame_Shift_Ins_p.K741fs NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 776_777 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) ACCTTGCTAAGAAAAAACATGC 0.376 Hereditary_Prostate_Cancer ADD2 119 broad.mit.edu 37 2 70933540 70933540 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:70933540delT uc002sgz.2 - 3 466 c.1delA c.(1-3)ATGfs p.M1fs ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Frame_Shift_Del_p.M1fs|ADD2_uc002sha.2_Frame_Shift_Del_p.M1fs|ADD2_uc002sgx.2_Frame_Shift_Del_p.M1fs|ADD2_uc010fdt.1_Frame_Shift_Del_p.M1fs|ADD2_uc002shc.1_Frame_Shift_Del_p.M1fs|ADD2_uc002shd.1_Frame_Shift_Del_p.M1fs|ADD2_uc010fdu.1_Frame_Shift_Del_p.M17fs NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 1 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 TCTTCGCTCATTTTCCCGGTG 0.617 DQX1 165545 broad.mit.edu 37 2 74747154 74747155 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:74747154_74747155insG uc010yrw.1 - 9 1667_1668 c.1502_1503insC c.(1501-1503)CCTfs p.P501fs DQX1_uc002smc.2_Frame_Shift_Ins_p.P62fs NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 501 nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 GGGTAAACCCAGGGGCAGCTGG 0.540 LRP1B 53353 broad.mit.edu 37 2 141115624 141115624 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:141115624delT uc002tvj.1 - 74 12291 c.11319delA c.(11317-11319)AAAfs p.K3773fs NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3773 Extracellular (Potential).|LDL-receptor class A 32. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAGGGATGCATTTTTTATTAC 0.388 TSP Lung(27;0.18) KYNU 8942 broad.mit.edu 37 2 143798151 143798151 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:143798151delG uc002tvl.2 + 13 1326 c.1196delG c.(1195-1197)CGGfs p.R399fs KYNU_uc010fnm.2_Frame_Shift_Del_p.R399fs NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 399 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GTAGAGGAGCGGGGGTGCCAG 0.408 KIF5C 3800 broad.mit.edu 37 2 149861973 149861973 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:149861973delA uc010zbu.1 + 22 2808 c.2440delA c.(2440-2442)AAAfs p.K814fs KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Frame_Shift_Del_p.K96fs NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 814 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) CACCCGAGTTAAAAAAGTGAG 0.423 ITGA6 3655 broad.mit.edu 37 2 173338908 173338910 + In_Frame_Del DEL CTC CTC - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:173338908_173338910delCTC uc002uhp.1 + 6 1104_1106 c.901_903delCTC c.(901-903)CTCdel p.L302del ITGA6_uc010fqk.1_In_Frame_Del_p.L188del|ITGA6_uc010zdy.1_In_Frame_Del_p.L183del|ITGA6_uc002uho.1_In_Frame_Del_p.L302del|ITGA6_uc010fqm.1_5'Flank NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 341 FG-GAP 5.|Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) GTCTGCACATCTCCTCCCTGAGC 0.488 UBE2E3 10477 broad.mit.edu 37 2 181846888 181846890 + In_Frame_Del DEL CTT CTT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:181846888_181846890delCTT uc002unq.1 + 3 338_340 c.119_121delCTT c.(118-123)CCTTCT>CCT p.S41del UBE2E3_uc002unr.1_In_Frame_Del_p.S41del|UBE2E3_uc010fri.1_In_Frame_Del_p.S41del NM_182678 NP_872619 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 41 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity ovary(1) 1 GAAAGAAAACCTTCTGCCACCCA 0.502 CERKL 375298 broad.mit.edu 37 2 182468750 182468751 + Frame_Shift_Del DEL AT AT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:182468750_182468751delAT uc002unx.2 - 2 395_396 c.294_295delAT c.(292-297)ATATTCfs p.I98fs CERKL_uc002uny.2_Frame_Shift_Del_p.I98fs|CERKL_uc010zfm.1_Frame_Shift_Del_p.I98fs|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Frame_Shift_Del_p.I98fs|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Frame_Shift_Del_p.I98fs|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Frame_Shift_Del_p.I98fs NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 98_99 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTCACAGAGAATATGTCTTTGA 0.302 ADAM23 8745 broad.mit.edu 37 2 207308784 207308784 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:207308784delG uc002vbq.2 + 1 417 c.194delG c.(193-195)TGGfs p.W65fs ADAM23_uc010ziv.1_5'Flank NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 65 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) CCCCGCGCCTGGGGGGCTGCT 0.761 ADAM23 8745 broad.mit.edu 37 2 207310055 207310055 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:207310055delA uc002vbq.2 + 2 462 c.239delA c.(238-240)GAAfs p.E80fs ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 80 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GAAACTGCAGAAAAAAATTTG 0.418 FAM119A 151194 broad.mit.edu 37 2 208477876 208477878 + In_Frame_Del DEL AAG AAG - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:208477876_208477878delAAG uc002vcf.2 - 4 709_711 c.549_551delCTT c.(547-552)TTCTTA>TTA p.F183del FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_In_Frame_Del_p.F183del|FAM119A_uc002vcg.3_In_Frame_Del_p.F183del NM_145280 NP_660323 Q8WXB1 MT21A_HUMAN hypothetical protein LOC151194 183 integral to membrane methyltransferase activity 0 LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135) CAGCATTGCTAAGAAGTTGTTAT 0.409 CCDC108 255101 broad.mit.edu 37 2 219892637 219892637 + Frame_Shift_Del DEL G G - rs144433350 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:219892637delG uc002vjl.1 - 13 2030 c.1946delC c.(1945-1947)CCGfs p.P649fs CCDC108_uc010fwa.1_Frame_Shift_Del_p.P92fs|CCDC108_uc010zkp.1_Frame_Shift_Del_p.P638fs|CCDC108_uc010zkq.1_Frame_Shift_Del_p.P584fs NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 649 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) ACTGATGGGCGGGGGGAAGAT 0.617 PPP1R7 5510 broad.mit.edu 37 2 242092999 242092999 + Frame_Shift_Del DEL G G - rs140300724 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:242092999delG uc002wat.1 + 2 176 c.161delG c.(160-162)CGGfs p.R54fs PPP1R7_uc010fzm.1_Frame_Shift_Del_p.R38fs|PPP1R7_uc002war.2_Frame_Shift_Del_p.R54fs|PPP1R7_uc002was.2_Frame_Shift_Del_p.R54fs|PPP1R7_uc002wau.1_Intron|PPP1R7_uc002wav.1_5'UTR NM_002712 NP_002703 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 54 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity ovary(3) 3 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) GGGGAGGAGCGGGGGGAGGAG 0.627 OXT 5020 broad.mit.edu 37 20 3052728 3052728 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:3052728delC uc002wht.1 + 2 162 c.126delC c.(124-126)CTCfs p.L42fs NM_000915 NP_000906 P01178 NEU1_HUMAN oxytocin-neurophysin I preproprotein 42 signal transduction neurohypophyseal hormone activity 0 Oxytocin(DB00107) CGCAGTGCCTCCCCTGCGGCC 0.766 PLCB1 23236 broad.mit.edu 37 20 8703048 8703048 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:8703048delA uc002wnb.2 + 15 1564 c.1561delA c.(1561-1563)AAAfs p.K521fs PLCB1_uc010zrb.1_Frame_Shift_Del_p.K420fs|PLCB1_uc002wna.2_Frame_Shift_Del_p.K521fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K420fs|PLCB1_uc002wnd.1_Frame_Shift_Del_p.K98fs NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 521 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TGATGACTGTAAAAAATCTTC 0.433 GZF1 64412 broad.mit.edu 37 20 23345195 23345195 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:23345195delT uc010gdb.2 + 3 349 c.175delT c.(175-177)TTTfs p.F59fs GZF1_uc002wsy.2_Frame_Shift_Del_p.F59fs|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Frame_Shift_Del_p.F59fs NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 59 BTB. transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) CACCAGCAAGTTTTTTAAGGA 0.483 ASXL1 171023 broad.mit.edu 37 20 31017181 31017182 + Frame_Shift_Del DEL GA GA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:31017181_31017182delGA uc002wxs.2 + 6 938_939 c.512_513delGA c.(511-513)CGAfs p.R171fs ASXL1_uc010geb.2_Frame_Shift_Del_p.R113fs NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 171 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 ATGCTGCCTCGAGTTGTCCTGA 0.495 F|N|Mis MDS|CMML KIAA0406 9675 broad.mit.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - rs149568606 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:36627613delG uc002xhl.2 - 6 2979 c.2770delC c.(2770-2772)CTGfs p.L924fs KIAA0406_uc002xhm.2_Frame_Shift_Del_p.L924fs NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 924 binding 0 Myeloproliferative disorder(115;0.00874) AGCACTGCCAGGGGGGCGTCC 0.577 SYCP2 10388 broad.mit.edu 37 20 58467740 58467741 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:58467740_58467741insT uc002yaz.2 - 22 1948_1949 c.1809_1810insA c.(1807-1812)TTAGACfs p.L603fs NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 603_604 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CAGATGTTGTCTAAAACACCAG 0.332 DNMT3L 29947 broad.mit.edu 37 21 45666330 45666330 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:45666330delG uc002zeg.1 - 12 1595 c.1111delC c.(1111-1113)CTAfs p.L371fs DNMT3L_uc002zeh.1_Frame_Shift_Del_p.L372fs NM_175867 NP_787063 Q9UJW3 DNM3L_HUMAN cytosine-5-methyltransferase 3-like protein 371 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding skin(2) 2 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) TATTCTCTTAGGGGGAGAAAG 0.448 KRTAP10-1 386677 broad.mit.edu 37 21 45959500 45959500 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:45959500delG uc002zfh.1 - 1 579 c.534delC c.(532-534)CCCfs p.P178fs C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN keratin associated protein 10-1 178 24 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 CCTGCTGGCAGGGGGAGGAGG 0.617 BAIAP2L2 80115 broad.mit.edu 37 22 38503898 38503899 + Frame_Shift_Del DEL AG AG - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:38503898_38503899delAG uc003auw.2 - 4 380_381 c.236_237delCT c.(235-237)TCTfs p.S79fs NM_025045 NP_079321 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 79 IMD. filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding pancreas(1) 1 Melanoma(58;0.045) GCTGGGTGTCAGACATCTGCAC 0.619 EP300 2033 broad.mit.edu 37 22 41545781 41545782 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:41545781_41545782insT uc003azl.3 + 14 2791_2792 c.2396_2397insT c.(2395-2397)TCTfs p.S799fs NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 799 Poly-Ser. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ATGTCTAGTTCTTCCTGCCCGG 0.416 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome ZBED4 9889 broad.mit.edu 37 22 50280682 50280682 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:50280682delC uc003bix.2 + 2 3842 c.3372delC c.(3370-3372)TGCfs p.C1124fs NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 1124 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TTTTGGGCTGCCCCCCAAGCA 0.552 RAD18 56852 broad.mit.edu 37 3 8944121 8944121 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:8944121delT uc003brd.2 - 10 1188 c.1111delA c.(1111-1113)ACAfs p.T371fs RAD18_uc003bre.2_RNA NM_020165 NP_064550 Q9NS91 RAD18_HUMAN postreplication repair protein hRAD18p 371 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding skin(3)|ovary(2) 5 OV - Ovarian serous cystadenocarcinoma(96;0.0552) ATTGTTACTGTTTTTTGTGAC 0.318 Rad6_pathway PTPN23 25930 broad.mit.edu 37 3 47451532 47451532 + Frame_Shift_Del DEL C C - rs77776224 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:47451532delC uc003crf.1 + 20 2340 c.2244delC c.(2242-2244)CTCfs p.L748fs PTPN23_uc011baw.1_Frame_Shift_Del_p.L713fs|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Frame_Shift_Del_p.L618fs NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 748 Pro-rich. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCGCAGCCTCCCCCCTGACA 0.701 APEH 327 broad.mit.edu 37 3 49714427 49714427 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:49714427delC uc003cxf.2 + 10 1369 c.969delC c.(967-969)ATCfs p.I323fs APEH_uc010hkw.1_Frame_Shift_Del_p.I323fs NM_001640 NP_001631 P13798 ACPH_HUMAN N-acylaminoacyl-peptide hydrolase 323 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CATCTCTGATCCCCCATCACC 0.602 FAM116A 201627 broad.mit.edu 37 3 57619023 57619023 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:57619023delA uc003dja.2 - 15 1393 c.1322delT c.(1321-1323)TTGfs p.L441fs NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 441 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) TGTCAGTTCCAAAAAATAGCG 0.328 ZBTB20 26137 broad.mit.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:114058003delG uc003ebi.2 - 5 2255 c.2075delC c.(2074-2076)CCTfs p.P692fs ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 692 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TGTGCCTGCAGGGGGGGTCCC 0.632 FBXO40 51725 broad.mit.edu 37 3 121340411 121340412 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:121340411_121340412insT uc003eeg.2 + 3 345_346 c.135_136insT c.(133-138)ACCTTCfs p.T45fs NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 45_46 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) GTGGTGCCACCTTCCACATGTG 0.574 MSL2 55167 broad.mit.edu 37 3 135871342 135871344 + In_Frame_Del DEL AGA AGA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:135871342_135871344delAGA uc003eqx.1 - 2 1112_1114 c.379_381delTCT c.(379-381)TCTdel p.S127del MSL2_uc011bmb.1_In_Frame_Del_p.S53del NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 127 histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 CCAAAATATCAGAAGAACAGTCA 0.384 P2RY12 64805 broad.mit.edu 37 3 151055936 151055936 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:151055936delT uc003eyw.1 - 2 914 c.698delA c.(697-699)AAGfs p.K233fs MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Frame_Shift_Del_p.K233fs NM_176876 NP_795345 Q9H244 P2Y12_HUMAN purinergic receptor P2Y12 233 Cytoplasmic (Potential). platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) GACGTTCACCTTTTTCCTGGG 0.373 NMD3 51068 broad.mit.edu 37 3 160964183 160964183 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:160964183delT uc003feb.1 + 12 1196 c.1077delT c.(1075-1077)TATfs p.Y359fs NMD3_uc003fec.2_Frame_Shift_Del_p.Y359fs|NMD3_uc003fed.1_Frame_Shift_Del_p.Y359fs|NMD3_uc010hwh.2_Frame_Shift_Del_p.Y179fs NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 359 protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) ATAAACAGTATTTTTGTCGTA 0.353 USP13 8975 broad.mit.edu 37 3 179472611 179472611 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:179472611delC uc003fkh.2 + 15 1971 c.1890delC c.(1888-1890)AGCfs p.S630fs USP13_uc003fkf.2_Frame_Shift_Del_p.A558fs NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 630 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) CAGACATCAGCCCCCCCATAG 0.483 POLN 353497 broad.mit.edu 37 4 2200403 2200403 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:2200403delT uc003ger.2 - 4 756 c.756delA c.(754-756)AAAfs p.K252fs POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Frame_Shift_Del_p.K252fs NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 252 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CTGCTTGGCGTTTTACTAACA 0.458 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage DOK7 285489 broad.mit.edu 37 4 3494970 3494970 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:3494970delC uc003ghd.2 + 7 1327 c.1257delC c.(1255-1257)AGCfs p.S419fs DOK7_uc003ghe.2_Frame_Shift_Del_p.S281fs|DOK7_uc003ghf.2_Frame_Shift_Del_p.A161fs|DOK7_uc003ghg.1_Frame_Shift_Del_p.S109fs NM_173660 NP_775931 Q18PE1 DOK7_HUMAN downstream of tyrosine kinase 7 isoform 1 419 positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GAGACCACAGCCCCCCCTCAC 0.711 SLAIN2 57606 broad.mit.edu 37 4 48371975 48371975 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:48371975delA uc003gya.3 + 2 643 c.499delA c.(499-501)AAAfs p.K167fs NM_020846 NP_065897 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 167 centrosome 0 TGAGTGTGCTAAAAAATCTCT 0.343 STAP1 26228 broad.mit.edu 37 4 68456664 68456664 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:68456664delA uc003hde.3 + 7 804 c.722delA c.(721-723)GAAfs p.E241fs STAP1_uc003hdf.2_Frame_Shift_Del_p.E241fs NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 241 SH2. cellular membrane fusion|intracellular protein transport cytoplasm 0 ATTGAACTGGAAAAACCTGTA 0.383 EREG 2069 broad.mit.edu 37 4 75246761 75246762 + Frame_Shift_Del DEL AA AA - rs145916659 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:75246761_75246762delAA uc003hie.1 + 3 351_352 c.185_186delAA c.(184-186)CAAfs p.Q62fs EREG_uc003hid.2_Frame_Shift_Del_p.Q56fs NM_001432 NP_001423 O14944 EREG_HUMAN epiregulin preproprotein 62 Extracellular (Potential). angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity breast(1)|skin(1) 2 Lung(101;0.196) CGTGTGGCTCAAGTGTCAATAA 0.396 BMP3 651 broad.mit.edu 37 4 81967644 81967644 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:81967644delA uc003hmg.3 + 2 1389 c.1069delA c.(1069-1071)AAAfs p.K357fs NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 357 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 GCAGACCCTGAAAAAGGCAAG 0.478 PKD2 5311 broad.mit.edu 37 4 88979251 88979251 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:88979251delT uc003hre.2 + 9 2081 c.2015delT c.(2014-2016)CTTfs p.L672fs PKD2_uc011cdf.1_Frame_Shift_Del_p.L90fs|PKD2_uc011cdg.1_Intron|PKD2_uc011cdh.1_Intron NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 672 Helical; (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TTCTTCATTCTTTTGGTATGT 0.308 GPRIN3 285513 broad.mit.edu 37 4 90170454 90170454 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:90170454delG uc003hsm.1 - 2 1327 c.808delC c.(808-810)CTCfs p.L270fs NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 270 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TCGCTAGTGAGGGGGGTTGGT 0.557 TRAM1L1 133022 broad.mit.edu 37 4 118005517 118005517 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:118005517delT uc003ibv.3 - 1 1220 c.1033delA c.(1033-1035)AGAfs p.R345fs NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 345 Cytoplasmic (Potential). protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1) 1 TTTTCTGTTCTTTTTTTAGAA 0.383 SPATA5 166378 broad.mit.edu 37 4 123859335 123859335 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:123859335delG uc003iez.3 + 8 1462 c.1389delG c.(1387-1389)GAGfs p.E463fs SPATA5_uc003iey.2_Frame_Shift_Del_p.E462fs NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 463 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 CGAAAAGAGAGGGGGCCCAGA 0.363 HHIP 64399 broad.mit.edu 37 4 145627734 145627734 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:145627734delA uc003ijs.1 + 5 1538 c.883delA c.(883-885)AAAfs p.K295fs NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 295 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CAATTACAAGAAAAATGGAAA 0.418 ABCE1 6059 broad.mit.edu 37 4 146041093 146041093 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:146041093delT uc003ijx.2 + 11 1372 c.932delT c.(931-933)ATTfs p.I311fs ABCE1_uc003ijy.2_Frame_Shift_Del_p.I311fs|ABCE1_uc010iot.2_RNA NM_001040876 NP_001035809 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E, member 1 311 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity skin(1) 1 all_hematologic(180;0.151) GGCATAAACATTTTTTTGGAT 0.358 RBM46 166863 broad.mit.edu 37 4 155720146 155720146 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:155720146delT uc003ioo.2 + 4 1005 c.832delT c.(832-834)TTTfs p.F278fs RBM46_uc011cim.1_Frame_Shift_Del_p.F278fs|RBM46_uc003iop.1_Frame_Shift_Del_p.F278fs NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 278 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) TTTTGTTCACTTTTTCAACCG 0.368 DNAH5 1767 broad.mit.edu 37 5 13845086 13845087 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:13845086_13845087insT uc003jfd.2 - 32 5172_5173 c.5130_5131insA c.(5128-5133)AAACGAfs p.K1710fs NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1710_1711 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AAGCACAGTCGTTTTTTCTCCA 0.460 Kartagener_syndrome RAI14 26064 broad.mit.edu 37 5 34814751 34814751 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:34814751delT uc003jir.2 + 12 1112 c.916delT c.(916-918)TTTfs p.F306fs RAI14_uc010iur.2_Frame_Shift_Del_p.F277fs|RAI14_uc011coj.1_Frame_Shift_Del_p.F306fs|RAI14_uc010ius.1_Frame_Shift_Del_p.F235fs|RAI14_uc003jis.2_Frame_Shift_Del_p.F309fs|RAI14_uc003jit.2_Frame_Shift_Del_p.F306fs|RAI14_uc011cok.1_Frame_Shift_Del_p.F298fs NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 306 cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) GGAATCGGTATTTTTTGCTGA 0.323 C5orf42 65250 broad.mit.edu 37 5 37162611 37162611 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:37162611delT uc011cpa.1 - 38 7877 c.7646delA c.(7645-7647)AAGfs p.K2549fs C5orf42_uc011coy.1_Frame_Shift_Del_p.K1049fs|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Frame_Shift_Del_p.K1624fs NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2549 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TATAGCTTTCTTTTTTACAGA 0.284 ANKRD32 84250 broad.mit.edu 37 5 94030769 94030769 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:94030769delA uc003kkr.3 + 21 3009 c.2929delA c.(2929-2931)ATTfs p.I977fs ANKRD32_uc003kks.2_Frame_Shift_Del_p.I341fs NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 977 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) TTCAGAGTTCATTTTAGCTTC 0.333 GALNT10 55568 broad.mit.edu 37 5 153674402 153674403 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:153674402_153674403insT uc003lvh.2 + 2 318_319 c.186_187insT c.(184-189)ACGTTTfs p.T62fs GALNT10_uc003lvg.1_Frame_Shift_Ins_p.T62fs|GALNT10_uc010jic.2_RNA NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 62_63 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) AAAAGAAAACGTTTTTCTTGGG 0.495 NSD1 64324 broad.mit.edu 37 5 176673750 176673750 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:176673750delA uc003mfr.3 + 10 4588 c.4450delA c.(4450-4452)AAAfs p.K1484fs NSD1_uc003mft.3_Frame_Shift_Del_p.K1215fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.K1381fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.K1132fs NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1484 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GATGCAGTGTAAAAAAGTGAA 0.418 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) DBN1 1627 broad.mit.edu 37 5 176885163 176885163 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:176885163delG uc003mgy.2 - 12 1844 c.1672delC c.(1672-1674)CAGfs p.Q558fs DBN1_uc011dga.1_Frame_Shift_Del_p.Q290fs|DBN1_uc003mgx.2_Frame_Shift_Del_p.Q560fs|DBN1_uc010jkn.1_Frame_Shift_Del_p.Q508fs|DBN1_uc003mgz.1_Frame_Shift_Del_p.Q541fs NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 558 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTGGGGTCTGGGGGGCAGCC 0.637 CNOT6 57472 broad.mit.edu 37 5 179994114 179994114 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:179994114delT uc003mlx.2 + 8 1093 c.744delT c.(742-744)AGTfs p.S248fs CNOT6_uc010jld.2_Frame_Shift_Del_p.S248fs|CNOT6_uc010jle.2_Frame_Shift_Del_p.S243fs NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 248 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding 0 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) AGTATTACAGTTTTTTTCTGG 0.348 JARID2 3720 broad.mit.edu 37 6 15508639 15508639 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:15508639delC uc003nbj.2 + 12 3044 c.2800delC c.(2800-2802)CACfs p.H934fs JARID2_uc011div.1_Frame_Shift_Del_p.H762fs|JARID2_uc011diw.1_Frame_Shift_Del_p.H896fs NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 934 JmjC. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGACCAAAATCACCTTCCATA 0.458 TAP2 6891 broad.mit.edu 37 6 32805788 32805788 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:32805788delG uc003occ.2 - 1 254 c.223delC c.(223-225)CTGfs p.L75fs TAP2_uc011dqf.1_Frame_Shift_Del_p.L75fs|TAP2_uc003ocb.1_Frame_Shift_Del_p.L75fs|TAP2_uc003ocd.2_Frame_Shift_Del_p.L75fs NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 75 Helical; Name=2; (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 GAGACAGTCAGGGGGGTGGCC 0.692 DNAH8 1769 broad.mit.edu 37 6 38885823 38885824 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:38885823_38885824insA uc003ooe.1 + 68 10380_10381 c.9780_9781insA c.(9778-9783)GCCAAAfs p.A3260fs uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTGAAAGTGCCAAAAAAGTCTG 0.396 C6orf223 221416 broad.mit.edu 37 6 43969836 43969836 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:43969836delC uc003own.2 + 3 273 c.255delC c.(253-255)CACfs p.H85fs uc003owm.1_Intron|C6orf223_uc003owo.2_Frame_Shift_Del_p.H65fs NM_153246 NP_694978 Q8N319 CF223_HUMAN hypothetical protein LOC221416 85 0 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) AGAGAGGACACCCCCTCCACC 0.438 C6orf138 442213 broad.mit.edu 37 6 47846151 47846151 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:47846151delA uc011dwm.1 - 3 2463 c.2378delT c.(2377-2379)TTCfs p.F793fs C6orf138_uc011dwn.1_Frame_Shift_Del_p.F557fs NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 810 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 GGAAGGGGGGAAAAACGTTAG 0.453 BEND3 57673 broad.mit.edu 37 6 107391602 107391602 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:107391602delC uc003prs.2 - 5 1443 c.793delG c.(793-795)GACfs p.D265fs NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 265 BEN 1. ovary(3) 3 CAGGCCAGGTCCCCCCCTGAC 0.652 MYB 4602 broad.mit.edu 37 6 135520107 135520107 + Frame_Shift_Del DEL C C - rs66549477 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:135520107delC uc003qfc.2 + 10 1464 c.1265delC c.(1264-1266)ACCfs p.T422fs MYB_uc003qfh.2_Frame_Shift_Del_p.T543fs|MYB_uc003qfi.2_Frame_Shift_Del_p.T527fs|MYB_uc010kgi.2_Frame_Shift_Del_p.T422fs|MYB_uc003qfq.2_Frame_Shift_Del_p.T540fs|MYB_uc010kgj.2_Frame_Shift_Del_p.T387fs|MYB_uc003qfo.2_Frame_Shift_Del_p.T337fs|MYB_uc003qfu.2_Frame_Shift_Del_p.T419fs|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Frame_Shift_Del_p.T48fs|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Frame_Shift_Del_p.T234fs|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Frame_Shift_Del_p.T422fs NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 422 Negative regulatory domain (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) TTAACTTCCACCCCCCTCATT 0.363 T NFIB adenoid cystic carcinoma CITED2 10370 broad.mit.edu 37 6 139694831 139694831 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:139694831delG uc003qip.1 - 2 495 c.251delC c.(250-252)CCGfs p.P84fs NM_006079 NP_006070 Q99967 CITE2_HUMAN Cbp/p300-interacting transactivator, with 84 adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination cytoplasm|nuclear chromatin|nucleus chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity 0 Breast(32;0.226) GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134) CAGCGCGCTCGGGGGGTGCCC 0.682 SASH1 23328 broad.mit.edu 37 6 148865376 148865376 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:148865376delC uc003qme.1 + 18 3245 c.2770delC c.(2770-2772)CCCfs p.P924fs SASH1_uc011eeb.1_Frame_Shift_Del_p.P685fs|SASH1_uc003qmf.1_Frame_Shift_Del_p.P334fs NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 924 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CGGCCTGTCACCCCCTCAGTG 0.517 ITGB8 3696 broad.mit.edu 37 7 20449395 20449395 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:20449395delA uc003suu.2 + 13 2886 c.2181delA c.(2179-2181)TCAfs p.S727fs ITGB8_uc011jyh.1_Frame_Shift_Del_p.S592fs NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 727 Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 TGTCAGCCTCAAAAAAGGTCA 0.318 HOXA2 3199 broad.mit.edu 37 7 27140390 27140390 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:27140390delA uc003syh.2 - 2 1361 c.1086delT c.(1084-1086)TTTfs p.F362fs NM_006735 NP_006726 O43364 HXA2_HUMAN homeobox A2 362 nucleus sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GTGTGTCTGTAAAAAAGTCTA 0.438 OGDH 4967 broad.mit.edu 37 7 44747227 44747228 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:44747227_44747228insC uc003tln.2 + 22 2952_2953 c.2843_2844insC c.(2842-2844)TACfs p.Y948fs OGDH_uc011kbx.1_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.1_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.2_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.1_Frame_Shift_Ins_p.Y743fs NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 948 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) GTGCAGAAGTACCCCAATGCTG 0.564 POM121 9883 broad.mit.edu 37 7 72397426 72397427 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:72397426_72397427insC uc003twk.2 + 3 947_948 c.947_948insC c.(946-948)CTCfs p.L316fs POM121_uc003twj.2_Frame_Shift_Ins_p.L51fs|POM121_uc010lam.1_Frame_Shift_Ins_p.L51fs NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 316 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) CTGAGTGCCCTCAAAGAGAAGG 0.460 PCLO 27445 broad.mit.edu 37 7 82582694 82582694 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:82582694delT uc003uhx.2 - 5 7864 c.7575delA c.(7573-7575)AAAfs p.K2525fs PCLO_uc003uhv.2_Frame_Shift_Del_p.K2525fs|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2456 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TATCTGTTGGTTTTTGTGTAG 0.433 PCLO 27445 broad.mit.edu 37 7 82585204 82585204 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:82585204delT uc003uhx.2 - 5 5354 c.5065delA c.(5065-5067)ACAfs p.T1689fs PCLO_uc003uhv.2_Frame_Shift_Del_p.T1689fs NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1620 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TACAAACTTGTTTTTTTCTGT 0.428 AP4M1 9179 broad.mit.edu 37 7 99701731 99701731 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:99701731delT uc003utb.3 + 7 768 c.560delT c.(559-561)GTTfs p.V187fs MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Frame_Shift_Del_p.V141fs|AP4M1_uc010lgl.1_Frame_Shift_Del_p.V187fs|AP4M1_uc003utc.3_Frame_Shift_Del_p.V194fs|AP4M1_uc010lgm.2_Frame_Shift_Del_p.V59fs|AP4M1_uc003utd.2_Frame_Shift_Del_p.V187fs|AP4M1_uc011kjh.1_Frame_Shift_Del_p.V139fs|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_Frame_Shift_Del_p.V59fs NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 187 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAGAATGAAGTTTTTTTGGAT 0.438 NUP205 23165 broad.mit.edu 37 7 135287555 135287555 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:135287555delA uc003vsw.2 + 18 2546 c.2515delA c.(2515-2517)AAAfs p.K839fs NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 839 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 GTTGATAGGGAAAAAACACCT 0.328 MLL3 58508 broad.mit.edu 37 7 151945528 151945530 + In_Frame_Del DEL TGC TGC - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:151945528_151945530delTGC uc003wla.2 - 14 2208_2210 c.1989_1991delGCA c.(1987-1992)CAGCAA>CAA p.663_664QQ>Q NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 663_664 Potential. 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) CAGTTGTTCTTGCTGCACAGTGA 0.404 N medulloblastoma KIF13B 23303 broad.mit.edu 37 8 28929788 28929788 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:28929788delC uc003xhh.3 - 39 4626 c.4567delG c.(4567-4569)GCCfs p.A1523fs KIF13B_uc011laz.1_Frame_Shift_Del_p.A42fs NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1523 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) AAGGCCGGGGCCCCCATCGTC 0.637 CHD7 55636 broad.mit.edu 37 8 61778454 61778454 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:61778454delG uc003xue.2 + 38 9433 c.8956delG c.(8956-8958)GGGfs p.G2986fs NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2986 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) CTCACTTGATGGGGGGGATGA 0.443 RRS1 23212 broad.mit.edu 37 8 67341501 67341501 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:67341501delC uc003xwa.2 + 1 239 c.135delC c.(133-135)AACfs p.N45fs NM_015169 NP_055984 Q15050 RRS1_HUMAN homolog of yeast ribosome biogenesis regulatory 45 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus 0 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) CGGACCGGAACCCCCCGACCG 0.672 OREG0018806 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MPDZ 8777 broad.mit.edu 37 9 13125277 13125277 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:13125277delT uc010mia.1 - 34 4802 c.4745delA c.(4744-4746)AAGfs p.K1582fs MPDZ_uc003zky.3_Frame_Shift_Del_p.K144fs|MPDZ_uc010mib.2_Frame_Shift_Del_p.K287fs|MPDZ_uc010mhx.2_Frame_Shift_Del_p.K404fs|MPDZ_uc011lmm.1_Frame_Shift_Del_p.K441fs|MPDZ_uc003zkz.3_Frame_Shift_Del_p.K275fs|MPDZ_uc010mhy.2_Frame_Shift_Del_p.K1582fs|MPDZ_uc010mhz.2_Frame_Shift_Del_p.K1549fs|MPDZ_uc011lmn.1_Frame_Shift_Del_p.K1549fs|MPDZ_uc003zlb.3_Frame_Shift_Del_p.K1582fs NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1582 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) GGAGCTGTTCTTTTTTTCTCC 0.517 FAM122A 116224 broad.mit.edu 37 9 71395787 71395788 + Frame_Shift_Del DEL GT GT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:71395787_71395788delGT uc004agw.1 + 1 824_825 c.707_708delGT c.(706-708)GGTfs p.G236fs PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron NM_138333 NP_612206 Q96E09 F122A_HUMAN hypothetical protein LOC116224 236 0 TCAGATCCTGGTGTGTGTGTAT 0.460 VPS13A 23230 broad.mit.edu 37 9 79897181 79897181 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:79897181delA uc004akr.2 + 29 3369 c.3109delA c.(3109-3111)AAAfs p.K1037fs VPS13A_uc004akp.3_Frame_Shift_Del_p.K1037fs|VPS13A_uc004akq.3_Frame_Shift_Del_p.K1037fs|VPS13A_uc004aks.2_Frame_Shift_Del_p.K1037fs NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1037 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 AGATGTCATTAAAAAATTAGG 0.299 COL15A1 1306 broad.mit.edu 37 9 101806909 101806909 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:101806909delG uc004azb.1 + 25 2840 c.2634delG c.(2632-2634)ATGfs p.M878fs NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 878 Nonhelical region 5 (NC5). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) AAAGGCTGATGGGGAAAAAGG 0.493 KIAA0649 9858 broad.mit.edu 37 9 138378961 138378961 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:138378961delG uc004cfr.1 + 4 3154 c.2605delG c.(2605-2607)GGGfs p.G869fs NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 869 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) TCTTGGGACAGGGGGCCCAGC 0.637 GRIN1 2902 broad.mit.edu 37 9 140036496 140036496 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:140036496delC uc004clk.2 + 2 620 c.290delC c.(289-291)ACCfs p.T97fs GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Frame_Shift_Del_p.T94fs|GRIN1_uc004cll.2_Frame_Shift_Del_p.T97fs|GRIN1_uc004clm.2_Frame_Shift_Del_p.T97fs|GRIN1_uc004cln.2_Frame_Shift_Del_p.T94fs|GRIN1_uc004clo.2_Frame_Shift_Del_p.T94fs NM_007327 NP_015566 Q05586 NMDZ1_HUMAN NMDA receptor 1 isoform NR1-3 precursor 97 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding skin(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CATCCACCTACCCCCAACGAC 0.592 RNF208 727800 broad.mit.edu 37 9 140115502 140115502 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:140115502delG uc004clz.1 - 1 274 c.163delC c.(163-165)CGGfs p.R55fs NM_031297 NP_112587 Q9H0X6 RN208_HUMAN ring finger protein 208 55 zinc ion binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GGGGTGGGCCGGGGAGCAGGC 0.627 NOXA1 10811 broad.mit.edu 37 9 140327669 140327670 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:140327669_140327670insG uc004cmv.2 + 10 998_999 c.863_864insG c.(862-864)ATGfs p.M288fs C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Frame_Shift_Ins_p.M288fs|NOXA1_uc010nch.2_Frame_Shift_Ins_p.M232fs NM_006647 NP_006638 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 288 Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) CTGCCGGCAATGGGGGGGCCTG 0.668 RAI2 10742 broad.mit.edu 37 X 17819461 17819461 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:17819461delG uc004cyf.2 - 3 1240 c.670delC c.(670-672)CTGfs p.L224fs RAI2_uc004cyg.2_Frame_Shift_Del_p.L224fs|RAI2_uc010nfa.2_Frame_Shift_Del_p.L224fs|RAI2_uc004cyh.3_Frame_Shift_Del_p.L224fs|RAI2_uc011miy.1_Frame_Shift_Del_p.L174fs NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 224 Pro-rich. embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) GGTGGGACCAGGGGGGACAAG 0.627 DMD 1756 broad.mit.edu 37 X 31222117 31222118 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:31222117_31222118insC uc004dda.1 - 67 10011_10012 c.9767_9768insG c.(9766-9768)GGCfs p.G3256fs DMD_uc004dcq.1_Frame_Shift_Ins_p.G527fs|DMD_uc004dcr.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcs.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dct.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcu.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcv.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcw.2_Frame_Shift_Ins_p.G1912fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.G1915fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.G3133fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.G3252fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.G3248fs|DMD_uc004dcm.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcn.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dco.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcp.1_Frame_Shift_Ins_p.G188fs|DMD_uc011mkb.1_Frame_Shift_Ins_p.G188fs|DMD_uc010ngm.2_Frame_Shift_Ins_p.G188fs NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3256 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CAATGTTACTGCCCCCAAAGGA 0.406 STAG2 10735 broad.mit.edu 37 X 123179073 123179073 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:123179073delT uc004etz.3 + 7 861 c.522delT c.(520-522)AGTfs p.S174fs STAG2_uc004eua.2_Frame_Shift_Del_p.S174fs|STAG2_uc004eub.2_Frame_Shift_Del_p.S174fs|STAG2_uc004euc.2_Frame_Shift_Del_p.S174fs|STAG2_uc004eud.2_Frame_Shift_Del_p.S174fs|STAG2_uc004eue.2_Frame_Shift_Del_p.S174fs NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 174 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TCAAATCCAGTTTTTGTGAAT 0.343 ARHGEF6 9459 broad.mit.edu 37 X 135764121 135764121 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:135764121delT uc004fab.2 - 14 1948 c.1486delA c.(1486-1488)ATAfs p.I496fs ARHGEF6_uc011mwd.1_Frame_Shift_Del_p.I369fs|ARHGEF6_uc011mwe.1_Frame_Shift_Del_p.I342fs NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 496 PH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) GCTATTGGTATTTTTCCCTAT 0.353 F8 2157 broad.mit.edu 37 X 154091467 154091467 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:154091467delT uc004fmt.2 - 23 6636 c.6465delA c.(6463-6465)AAAfs p.K2155fs F8_uc004fms.2_Frame_Shift_Del_p.K20fs NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 2155 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAATATTGTGTTTTATCCCAG 0.398 AJAP1 55966 broad.mit.edu 37 1 4829992 4829993 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:4829991_4829992T>TA uc001alm.1 + 2 1289_1290 c.908_909T>TA c.(907-909)ttafs p.L303fs AJAP1_uc001aln.3_Frame_Shift_Ins_p.L303fs NM_001042478 NP_061324 Q9UKB5 AJAP1_HUMAN Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA. 303 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTCTTGTCTTAAAAAATTGGT 0.510 CASZ1 54897 broad.mit.edu 37 1 10719759 10719760 + Splice_Site INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:10719758_10719759C>CT uc001aro.3 - 6 1660 c.1340_splice c.e6+1 p.K447_splice CASZ1_uc001arp.1_Splice_Site_p.K447_splice|CASZ1_uc009vmx.2_Splice_Site_p.K471_splice|CASZ1_uc001arq.1_Splice_Site_p.K306_splice NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GAGCGCCTTACTTGACAGTGGA 0.604 CSMD2 114784 broad.mit.edu 37 1 34166229 34166229 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:34166228_34166228TA>T uc001bxm.1 - 22 3799 c.3622_3622TA>A c.(3622-3624)agcfs p.S1208fs CSMD2_uc001bxn.1_Frame_Shift_Del_p.S1168fs|CSMD2_uc001bxo.1_Frame_Shift_Del_p.S81fs NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1168 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCAGAATGGCTAAAAACTCCC 0.493 ZC3H12A 80149 broad.mit.edu 37 1 37948445 37948445 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:37948444_37948444AC>A uc001cbb.4 + 5 1182 c.1032_1032AC>A c.(1030-1032)tcafs p.S344fs ZC3H12A_uc001cbc.1_Frame_Shift_Del_p.S139fs NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA. 344 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding p.S344P(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTCTCCTCTCACCCCCCAGAG 0.597 PRKAA2 5563 broad.mit.edu 37 1 57173341 57173341 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:57173340_57173340AT>A uc001cyk.4 + 8 1684 c.1613_1613AT>A c.(1612-1614)gatfs p.D538fs NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 538 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|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 ATP binding|metal ion binding p.E541fs*1(2) breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 CACACCATGGATTTTTTTGAA 0.423 ARNT 405 broad.mit.edu 37 1 150789283 150789283 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:150789282_150789282CG>C uc001evr.2 - 17 1985 c.1784_1784CG>G c.(1783-1785)cggfs p.R595fs ARNT_uc010pck.2_Frame_Shift_Del_p.R84fs|ARNT_uc001evs.2_Frame_Shift_Del_p.R580fs|ARNT_uc009wmd.2_Frame_Shift_Del_p.R580fs|ARNT_uc009wmb.2_Frame_Shift_Del_p.R581fs|ARNT_uc009wmc.2_Frame_Shift_Del_p.R595fs NM_001668 NP_001659 P27540 ARNT_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA. 595 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CTCTGCCGGCCGGGGGGTAGG 0.522 T ETV6 AML CGN 57530 broad.mit.edu 37 1 151502544 151502545 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:151502543_151502544T>TG uc009wmw.3 + 11 2409_2410 c.2265_2266T>TG c.(2263-2268)ggtgggfs p.G755fs NM_020770 NP_065821 Q9P2M7 CING_HUMAN Homo sapiens cingulin (CGN), mRNA. 749 Glu-rich. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TGGTGGATGGTGGGGAAGCGGT 0.619 SLC27A3 11000 broad.mit.edu 37 1 153751860 153751860 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:153751859_153751859TC>T uc001fcz.3 + 8 1991 c.1926_1926TC>T c.(1924-1926)cgtfs p.R642fs SLC27A3_uc009won.3_Non-coding_Transcript NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA. 642 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TAGTTCTGCGTCCCCCCCACG 0.622 BCAN 63827 broad.mit.edu 37 1 156627543 156627543 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:156627542_156627542TC>T uc001fpp.3 + 10 2621 c.2285_2285TC>T c.(2284-2286)gtcfs p.V762fs NM_021948 NP_068767 Q96GW7 PGCB_HUMAN Homo sapiens brevican (BCAN), transcript variant 1, mRNA. 762 C-type lectin. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCGGATGGCGTCCCCCTGGTG 0.622 OREG0013880 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PIGC 5279 broad.mit.edu 37 1 172411516 172411516 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:172411515_172411515TG>T uc021pey.1 - 0 248 c.248_248CA>A c.(247-249)catfs p.H83fs PIGC_uc001gii.1_Intron|C1orf105_uc001gik.3_Intron|PIGC_uc001gin.3_Frame_Shift_Del_p.H83fs|PIGC_uc001gio.3_Frame_Shift_Del_p.H83fs NM_153747 NP_714969 Q92535 PIGC_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class C (PIGC), transcript variant 1, mRNA. 83 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 TAAAAGCCAATGGGGGGCCAG 0.502 CACNA1S 779 broad.mit.edu 37 1 201035447 201035447 + Splice_Site DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:201035446_201035446TG>T uc001gvv.3 - 21 2885 c.2658_splice c.e21-1 p.E886_splice NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 886 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCACTGGACCTGGGGGGCGGC 0.647 ITPKB 3707 broad.mit.edu 37 1 226923855 226923855 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:226923854_226923854GC>G uc010pvo.2 - 1 1646 c.1306_1306GC>C c.(1306-1308)cgtfs p.R436fs ITPKB_uc001hqh.3_Frame_Shift_Del_p.R436fs NM_002221 NP_002212 P27987 IP3KB_HUMAN Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA. 436 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity p.T435S(1) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) AGCTGCCAACGCCCCCCGCCC 0.721 PCNXL2 80003 broad.mit.edu 37 1 233394590 233394591 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:233394589_233394590T>TC uc001hvl.2 - 4 1253_1254 c.1018_1019A>GA c.(1018-1020)gacfs p.D340fs PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 340 integral to membrane p.D340N(2) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CAAGGGCAGGTCCCCCTGGCAG 0.574 ARID4B 51742 broad.mit.edu 37 1 235394506 235394507 + Splice_Site DEL TA TA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr1:235394505_235394506CTA>C uc021pks.1 - 10 1043 c.666_splice c.e10-1 p.F222_splice ARID4B_uc001hwq.3_Splice_Site_p.F222_splice|ARID4B_uc001hwr.3_Splice_Site_p.F222_splice|ARID4B_uc001hws.4_Splice_Site_p.F222_splice|ARID4B_uc001hwu.1_Splice_Site_p.F222_splice|ARID4B_uc001hwt.4_Splice_Site NM_001206794 NP_001193723 Q4LE39 ARI4B_HUMAN Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA. 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) AACTGAAGTACtatatattttt 0.292 RNF144A 9781 broad.mit.edu 37 2 7160688 7160689 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:7160687_7160688A>AC uc002qys.3 + 5 827_828 c.385_386A>AC c.(385-387)accfs p.T129fs NM_014746 NP_055561 P50876 R144A_HUMAN Homo sapiens ring finger protein 144A (RNF144A), mRNA. 129 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) GGGGCTGCAGACCCCCCAGCCA 0.629 SLC8A1 6546 broad.mit.edu 37 2 40401985 40401985 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:40401984_40401984TA>T uc002rrx.3 - 4 1961 c.1937_splice c.e4-1 p.G646_splice LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.G646_splice|SLC8A1_uc002rsb.2_Splice_Site_p.G638_splice|SLC8A1_uc002rrz.3_Splice_Site_p.G638_splice|SLC8A1_uc002rsa.3_Splice_Site_p.G638_splice|SLC8A1_uc002rsd.4_Splice_Site_p.G638_splice NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 646 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGAAGCCACCTAAAAAAGAAA 0.333 CCDC88A 55704 broad.mit.edu 37 2 55561925 55561926 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:55561924_55561925G>GT uc002ryv.2 - 14 2874_2875 c.2032_2033C>AC c.(2032-2034)acafs p.T678fs CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.3_5'UTR NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA. 678 DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GCTATCCAATGTTTTTTTTAAT 0.287 EHBP1 23301 broad.mit.edu 37 2 63176205 63176206 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:63176204_63176205G>GA uc002sby.3 + 13 2810_2811 c.2328_2329G>GA c.(2326-2331)aagaaafs p.K776fs EHBP1_uc010fcp.3_Frame_Shift_Ins_p.K741fs|EHBP1_uc002sbz.3_Frame_Shift_Ins_p.K741fs|EHBP1_uc002scb.3_Frame_Shift_Ins_p.K741fs NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA. 776 cytoplasm|membrane p.K776K(2) biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) ACCTTGCTAAGAAAAAACATGC 0.376 AFTPH 54812 broad.mit.edu 37 2 64779844 64779844 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:64779843_64779843TA>T uc002sdc.3 + 0 1267 c.1235_1235TA>T c.(1234-1236)gtafs p.V412fs AFTPH_uc002scz.3_Frame_Shift_Del_p.V412fs|AFTPH_uc002sda.3_Frame_Shift_Del_p.V412fs|AFTPH_uc002sdb.3_Frame_Shift_Del_p.V412fs NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA. 412 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TCTTTAAGTGTAAAAAATGGT 0.363 FBXO48 554251 broad.mit.edu 37 2 68692195 68692195 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:68692194_68692194AT>A uc002seo.3 - 2 492 c.84_84AT>T c.(82-84)aatfs p.N28fs APLF_uc010fdf.2_5'Flank|APLF_uc002sep.3_5'Flank NM_001024680 NP_001019851 Q5FWF7 FBX48_HUMAN Homo sapiens F-box protein 48 (FBXO48), mRNA. 28 endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 TTTGACTCTCATTTTTTTCCT 0.368 ACTG2 72 broad.mit.edu 37 2 74128518 74128519 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:74128517_74128518G>GC uc002sjw.3 + 1 201_202 c.79_80G>GC c.(79-81)gccfs p.A27fs ACTG2_uc010fex.1_Frame_Shift_Ins_p.A27fs|ACTG2_uc010yrn.2_Frame_Shift_Ins_p.A27fs|ACTG2_uc010fey.3_Frame_Shift_Ins_p.A27fs NM_001615 NP_001606 P63267 ACTH_HUMAN Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA. 27 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 AGGAGATGATGCCCCCCGGGCT 0.619 TET3 200424 broad.mit.edu 37 2 74274090 74274090 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:74274089_74274089GA>G uc002skb.4 + 0 640 c.640_640GA>G c.(640-642)gaafs p.E214fs TET3_uc010fez.2_Frame_Shift_Del_p.E214fs NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 214 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CATTGCCAAGGAAAAAAACAT 0.612 DQX1 165545 broad.mit.edu 37 2 74747155 74747156 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:74747154_74747155A>AG uc010yrw.2 - 8 1667_1668 c.1502_1503T>CT c.(1501-1503)cctfs p.P501fs DQX1_uc002smc.3_Frame_Shift_Ins_p.P62fs NM_133637 NP_598376 Q8TE96 DQX1_HUMAN Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA. 501 nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 GGGTAAACCCAGGGGCAGCTGG 0.540 UNC50 25972 broad.mit.edu 37 2 99232795 99232795 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:99232794_99232794CT>C uc010yvl.2 + 3 811 c.577_577CT>C c.(577-579)cttfs p.L193fs UNC50_uc002szc.4_Frame_Shift_Del_p.L176fs|UNC50_uc002szb.3_Frame_Shift_Del_p.L176fs NM_014044 NP_054763 Q53HI1 UNC50_HUMAN Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA. 176 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 TTTTATCCAGCTTTTTTTCAT 0.413 FAM168B 130074 broad.mit.edu 37 2 131812907 131812907 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:131812906_131812906AG>A uc002tsd.3 - 4 643 c.414_414CT>T c.(412-414)cctfs p.P138fs NM_001009993 NP_001009993 A1KXE4 F168B_HUMAN Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA. 138 endometrium(3)|lung(2) 5 TGCCTCTAGGAGGGGGGATGG 0.622 RIF1 55183 broad.mit.edu 37 2 152285379 152285379 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:152285378_152285378TA>T uc002txm.3 + 8 1028 c.867_867TA>T c.(865-867)attfs p.I289fs RIF1_uc010fnv.2_Frame_Shift_Del_p.I253fs|RIF1_uc002txn.3_Frame_Shift_Del_p.I289fs|RIF1_uc002txl.3_Frame_Shift_Del_p.I289fs|RIF1_uc002txo.3_Frame_Shift_Del_p.I289fs|RIF1_uc010zby.1_Non-coding_Transcript NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA. 289 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding p.M288I(1) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) CACCCATGATTAAAAAGATAG 0.318 STAT1 6772 broad.mit.edu 37 2 191847230 191847232 + In_Frame_Del DEL GAA GAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr2:191847229_191847231GGAA>G uc010fse.2 - 16 1892_1894 c.1460_1462TTCC>C c.(1459-1464)ttcctg>tCtg p.487_488FL>S STAT1_uc021vue.1_In_Frame_Del_p.299_300FL>S|STAT1_uc002usj.2_In_Frame_Del_p.487_488FL>S|STAT1_uc002usk.2_In_Frame_Del_p.487_488FL>S|STAT1_uc002usl.2_In_Frame_Del_p.489_490FL>S|STAT1_uc010fsf.1_In_Frame_Del_p.299_300FL>S NM_007315 NP_009330 P42224 STAT1_HUMAN Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA. 487 I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GGTGGAGTCAGGAAGAAGGACAG 0.453 TREX1 11277 broad.mit.edu 37 3 48508192 48508193 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:48508191_48508192G>GC uc003ctj.3 + 1 1559_1560 c.302_303G>GC c.(301-303)agcfs p.S101fs TREX1_uc010hjy.3_Frame_Shift_Ins_p.S46fs|TREX1_uc010hjz.3_Frame_Shift_Ins_p.S46fs|TREX1_uc003ctk.3_5'UTR|TREX1_uc010hka.3_Frame_Shift_Ins_p.S101fs NM_033629 NP_338599 Q9NSU2 TREX1_HUMAN Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA. 101 DNA recombination|DNA replication|cell death|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GCCCTGGAGAGCCCCCCCACCT 0.644 TMEM89 440955 broad.mit.edu 37 3 48659073 48659073 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:48659072_48659072AC>A uc011bbo.2 - 0 118 c.118_118GT>T c.(118-120)tgtfs p.C40fs NM_001008269 NP_001008270 A2RUT3 TMM89_HUMAN Homo sapiens transmembrane protein 89 (TMEM89), mRNA. 40 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TTTGGCTGACACCCCCAGGGC 0.662 RBM6 10180 broad.mit.edu 37 3 50005145 50005145 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:50005144_50005144AG>A uc003cyc.3 + 2 534 c.286_286AG>A c.(286-288)aggfs p.R96fs RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron NM_005777 NP_001161054 P78332 RBM6_HUMAN Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA. 96 RNA processing nucleus DNA binding|RNA binding|nucleotide binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) ACATGATTTCAGGGGGGGAGA 0.498 VPRBP 9730 broad.mit.edu 37 3 51457448 51457449 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:51457447_51457448G>GT uc003dbe.2 - 13 3002_3003 c.2817_2818C>AC c.(2815-2820)aaacagfs p.K939fs VPRBP_uc021wys.1_Frame_Shift_Ins_p.K938fs|VPRBP_uc003dbf.1_Frame_Shift_Ins_p.K268fs NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA. 992 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CTGTCCAGCTGTTTTTTTATGG 0.500 STAB1 23166 broad.mit.edu 37 3 52543930 52543931 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:52543929_52543930T>TG uc003dej.3 + 22 2465_2466 c.2391_2392T>TG c.(2389-2394)agtgggfs p.S797fs NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 797 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCCAGGCAGTGGGGGGGTGTG 0.653 ACTR8 93973 broad.mit.edu 37 3 53910110 53910111 + Splice_Site INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:53910109_53910110T>TG uc003dhd.3 - 7 880 c.779_splice c.e7-1 p.G260_splice ACTR8_uc003dhb.3_Splice_Site_p.G10_splice|ACTR8_uc003dhc.3_Splice_Site_p.G149_splice NM_022899 NP_075050 Q9H981 ARP8_HUMAN Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA. 260 DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) CCACAATCCCTGGGGGGGGAAA 0.515 ROBO2 6092 broad.mit.edu 37 3 77147335 77147335 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:77147334_77147334TC>T uc011bgk.2 + 1 874 c.231_231TC>T c.(229-231)gatfs p.D77fs ROBO2_uc021xat.1_Frame_Shift_Del_p.D93fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.D77fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.D77fs|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 77 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ACAAGGACGATCCCCGGTCCC 0.592 FILIP1L 11259 broad.mit.edu 37 3 99568273 99568273 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:99568272_99568272GT>G uc003dtm.3 - 4 2711 c.2248_2248AC>C c.(2248-2250)ctafs p.L750fs MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs NM_182909 NP_878913 Q4L180 FIL1L_HUMAN Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA. 750 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TGTTGATTTAGTTTTTTTTGC 0.403 ATG3 64422 broad.mit.edu 37 3 112277267 112277267 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:112277266_112277266TA>T uc003dzd.3 - 2 183 c.73_splice c.e2-1 p.E25_splice ATG3_uc003dzc.3_Splice_Site_p.E25_splice|ATG3_uc010hqe.3_Splice_Site_p.E25_splice NM_022488 NP_071933 Q9NT62 ATG3_HUMAN Homo sapiens ATG3 autophagy related 3 homolog (S. cerevisiae) (ATG3), mRNA. 25 autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination cytoplasmic ubiquitin ligase complex|cytosol Atg12 ligase activity|Atg8 ligase activity|enzyme binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3) 9 CTTTGATTCCTAAAAAAAGCA 0.323 C3orf30 152405 broad.mit.edu 37 3 118866406 118866406 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:118866405_118866405GA>G uc003ecb.1 + 0 1409 c.1369_1369GA>G c.(1369-1371)gaafs p.E457fs IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Frame_Shift_Del_p.E457fs NM_152539 NP_689752 Q96M34 CC030_HUMAN Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA. 457 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) CAGCAGTCAAGAAAAAACTCA 0.423 FBXO40 51725 broad.mit.edu 37 3 121340412 121340413 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:121340411_121340412C>CT uc003eeg.2 + 2 345_346 c.135_136C>CT c.(133-138)accttcfs p.T45fs NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 45 T -> A (in Ref. 1; AAF17085). muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GTGGTGCCACCTTCCACATGTG 0.574 TF 7018 broad.mit.edu 37 3 133476714 133476714 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:133476713_133476713TC>T uc003epu.2 + 12 2699 c.971_971TC>T c.(970-972)gtcfs p.V324fs TF_uc011blt.2_Frame_Shift_Del_p.V197fs|TF_uc003epw.2_Intron|TF_uc003epv.2_Frame_Shift_Del_p.V324fs NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 324 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TTTTTAAAAGTCCCCCCCAGG 0.488 STAG1 10274 broad.mit.edu 37 3 136240262 136240263 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:136240261_136240262T>TA uc003era.1 - 7 764 c.472_splice c.e7-1 p.D158_splice STAG1_uc003erb.1_Splice_Site_p.D158_splice|STAG1_uc003erc.1_Splice_Site|STAG1_uc010hua.1_Splice_Site_p.D21_splice|STAG1_uc003ere.3_Splice_Site_p.D158_splice NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN Homo sapiens stromal antigen 1 (STAG1), mRNA. 158 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 ACCACTGTCCTAAAAAACAGAA 0.361 CLCN2 1181 broad.mit.edu 37 3 184073510 184073510 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr3:184073509_184073509AG>A uc003foi.3 - 10 1267 c.1143_1143CT>T c.(1141-1143)cctfs p.P381fs CLCN2_uc003foh.3_5'UTR|CLCN2_uc010hya.2_Frame_Shift_Del_p.P381fs|CLCN2_uc011brl.2_Frame_Shift_Del_p.P381fs|CLCN2_uc011brm.2_Frame_Shift_Del_p.P337fs|CLCN2_uc011brn.1_Frame_Shift_Del_p.P381fs NM_004366 NP_004357 P51788 CLCN2_HUMAN Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA. 381 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GTCCAAAGCCAGGGGGGAAGG 0.572 GAK 2580 broad.mit.edu 37 4 845556 845556 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:845555_845555AC>A uc003gbm.4 - 24 3690 c.3491_3491GT>T c.(3490-3492)gtcfs p.V1164fs GAK_uc003gbn.4_Frame_Shift_Del_p.V1085fs|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Frame_Shift_Del_p.V1017fs NM_005255 NP_005246 O14976 GAK_HUMAN Homo sapiens cyclin G associated kinase (GAK), mRNA. 1164 cell cycle Golgi apparatus|focal adhesion|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GGGTGCGCGGACCCCCCGCTC 0.597 SLC26A1 10861 broad.mit.edu 37 4 982997 982998 + Frame_Shift_Ins INS - - C rs113951266 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:982996_982997G>GC uc003gcb.3 - 3 2108_2109 c.1730_1731C>GC c.(1729-1731)ggcfs p.G577fs SLC26A1_uc003gbx.3_Intron|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Frame_Shift_Ins_p.G577fs NM_213613 NP_998778 Q9H2B4 S26A1_HUMAN Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA. 577 STAS. integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCGTCTCTGAGCCCCCCTCCTT 0.688 FAM193A 8603 broad.mit.edu 37 4 2661593 2661594 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:2661592_2661593A>AC uc010ick.3 + 8 1284_1285 c.1283_1284A>AC c.(1282-1284)gacfs p.D428fs FAM193A_uc003gfd.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Ins_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Ins_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Ins_p.D82fs NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 228 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGTATCATGGACCCCCCCGTCA 0.525 QDPR 5860 broad.mit.edu 37 4 17513588 17513588 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:17513587_17513587GA>G uc003gpd.3 - 0 271 c.91_91TC>C c.(91-93)cggfs p.R31fs QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Frame_Shift_Del_p.R31fs NM_000320 NP_000311 P09417 DHPR_HUMAN Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA. 31 L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity p.R31R(2) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) TTGCGGGCCCGAAAAGCCTGC 0.731 IGFBP7 3490 broad.mit.edu 37 4 57898593 57898593 + Splice_Site DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:57898592_57898592CT>C uc003hcn.3 - 4 863 c.829_splice c.e4+1 p.G277_splice IGFBP7_uc011cag.2_Frame_Shift_Del_p.G277fs NM_001553 NP_001544 Q16270 IBP7_HUMAN Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA. 277 PVKKGEGAEL -> ASEKR (in Ref. 1; AAA16187). cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|lung(3) 5 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TATTGTGTACCTTTTTTCACT 0.358 GK2 2712 broad.mit.edu 37 4 80327750 80327751 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:80327749_80327750T>TA uc003hlu.3 - 0 1623_1624 c.1605_1606A>TA c.(1603-1608)tttatafs p.F535fs NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 535 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CTACTCACTATAAAAAATCCCA 0.406 SCLT1 132320 broad.mit.edu 37 4 129878248 129878250 + In_Frame_Del DEL TCT TCT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:129878247_129878249GTCT>G uc003igp.2 - 12 1584_1586 c.1078_1080AGAC>C c.(1078-1080)gac>C p.D360del SCLT1_uc003ign.2_In_Frame_Del_p.D24del|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA. 360 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TTTTCTCTATGTCTTCTTCTTTT 0.286 TBC1D9 23158 broad.mit.edu 37 4 141598226 141598231 + In_Frame_Del DEL CTCTCA CTCTCA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:141598225_141598230TCTCTCA>T uc010ioj.3 - 5 1149_1154 c.877_882TGAGAGA>A c.(877-882)gagaga>A p.ER293del NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 293 GRAM 2. intracellular Rab GTPase activator activity|calcium ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GTGCACGGTATCTCTCACTCTTTGCC 0.422 SMARCA5 8467 broad.mit.edu 37 4 144467118 144467118 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr4:144467117_144467117CA>C uc003ijg.3 + 18 2899 c.2437_2437CA>C c.(2437-2439)caafs p.Q813fs NM_003601 NP_003592 O60264 SMCA5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA. 813 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) AGCACAGGCACAAAAAGAAGA 0.363 SLC12A7 10723 broad.mit.edu 37 5 1074698 1074698 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:1074697_1074697TG>T uc003jbu.3 - 15 2123 c.2057_2057CA>A c.(2056-2058)cacfs p.H686fs NM_006598 NP_006589 Q9Y666 S12A7_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA. 686 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GTTCTTGGTGTGGGGGGGACC 0.647 DNAH5 1767 broad.mit.edu 37 5 13845087 13845088 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:13845086_13845087G>GT uc003jfd.2 - 31 5172_5173 c.5130_5131C>AC c.(5128-5133)aaacgafs p.K1710fs NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1710 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R1711Q(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAGCACAGTCGTTTTTTCTCCA 0.460 Kartagener syndrome CENPH 64946 broad.mit.edu 37 5 68491598 68491599 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:68491597_68491598T>TA uc003jvp.3 + 3 380_381 c.293_294T>TA c.(292-294)atafs p.I98fs CENPH_uc010ixc.3_Frame_Shift_Ins_p.I98fs NM_022909 NP_075060 Q9H3R5 CENPH_HUMAN Homo sapiens centromere protein H (CENPH), mRNA. 98 CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding kidney(15)|large_intestine(2)|lung(3) 20 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) GCTTTTGAGATAAAAAAGCTTG 0.312 COL4A3BP 10087 broad.mit.edu 37 5 74696125 74696125 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:74696124_74696124TA>T uc011csu.2 - 10 1440 c.1018_splice c.e10-1 p.S340_splice COL4A3BP_uc003kds.3_Splice_Site_p.S340_splice|COL4A3BP_uc003kdt.3_Splice_Site_p.S468_splice|COL4A3BP_uc003kdu.2_Splice_Site_p.S340_splice NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA. 340 ER to Golgi ceramide transport|immune response Golgi apparatus|cytosol|endoplasmic reticulum membrane ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) ACTCTGTGACTAAAAAAACAT 0.368 GLRX 2745 broad.mit.edu 37 5 95152333 95152333 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:95152332_95152332TA>T uc021ybn.1 - 2 419 c.208_splice c.e2-1 p.V70_splice GLRX_uc003kln.4_Splice_Site_p.V70_splice|GLRX_uc003klo.4_Splice_Site_p.V70_splice|GLRX_uc021ybo.1_Splice_Site_p.V70_splice NM_001243659 NP_001230588 P35754 GLRX1_HUMAN Homo sapiens glutaredoxin (thioltransferase) (GLRX), transcript variant 4, mRNA. 70 Glutaredoxin. cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport cytosol electron carrier activity|glutathione disulfide oxidoreductase activity|protein N-terminus binding|protein disulfide oxidoreductase activity endometrium(3)|large_intestine(1)|lung(1) 5 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) TCGAGGCACCTAAAAAAGCAC 0.413 FBN2 2201 broad.mit.edu 37 5 127744418 127744418 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:127744417_127744417CA>C uc003kuu.3 - 7 1467 c.1028_1028TG>G c.(1027-1029)tgtfs p.C343fs FBN2_uc003kuv.2_Frame_Shift_Del_p.C310fs NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 343 EGF-like 5; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGGACAAACACAAAAATAGCT 0.433 IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Ins INS - - GA TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:140032592_140032593T>TGA uc003lgq.3 + 4 377_378 c.267_268T>TGA c.(265-270)attgagfs p.I89fs IK_uc011czk.1_Frame_Shift_Ins_p.I89fs|IK_uc021yen.1_Frame_Shift_Ins_p.I30fs NM_006083 NP_006074 Q13123 RED_HUMAN Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA. 89 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACAAGAAATTGAGAGAGAGAG 0.465 FAT2 2196 broad.mit.edu 37 5 150886794 150886795 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:150886793_150886794T>TG uc003lue.4 - 21 12451_12452 c.12438_12439A>CA c.(12436-12441)cccagafs p.P4146fs FAT2_uc003lud.4_Frame_Shift_Ins_p.P753fs NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 4146 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCGGGAGTCTGGGGGGCACAC 0.559 GALNT10 55568 broad.mit.edu 37 5 153674403 153674404 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr5:153674402_153674403G>GT uc003lvh.3 + 1 318_319 c.186_187G>GT c.(184-189)acgtttfs p.T62fs GALNT10_uc003lvg.1_Frame_Shift_Ins_p.T62fs|GALNT10_uc010jic.3_Non-coding_Transcript NM_198321 NP_938080 Q86SR1 GLT10_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA. 62 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) AAAAGAAAACGTTTTTCTTGGG 0.495 HLA-C 3107 broad.mit.edu 37 6 31323363 31323363 + Frame_Shift_Del DEL G G - rs77061046 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:31323362_31323362TG>T uc003nth.2 - 3 681 c.627_627CA>A c.(625-627)ccafs p.P209fs HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Del_p.P88fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR NM_005514 NP_005505 Q9TNN7 1C05_HUMAN Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA. 209 Alpha-3.|Ig-like C1-type. 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 MHC class I protein complex|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CGTGTGTCTTTGGGGGGTCTG 0.577 SKIV2L 6499 broad.mit.edu 37 6 31934881 31934881 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:31934880_31934880TG>T uc003nyn.1 + 19 2829 c.2440_2440TG>T c.(2440-2442)tggfs p.W814fs SKIV2L_uc011dou.1_Frame_Shift_Del_p.W656fs|SKIV2L_uc011dov.1_Frame_Shift_Del_p.W621fs NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 814 nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 ATATTACAGCTGGGGGGAGGA 0.552 STK38 11329 broad.mit.edu 37 6 36465583 36465584 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:36465582_36465583C>CA uc003omg.3 - 10 1734_1735 c.1146_1147G>TG c.(1144-1149)tttgaafs p.F382fs STK38_uc003omh.3_Frame_Shift_Ins_p.F382fs|STK38_uc003omi.3_Frame_Shift_Ins_p.F382fs NM_007271 NP_009202 Q15208 STK38_HUMAN Homo sapiens serine/threonine kinase 38 (STK38), mRNA. 382 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity MLL5-L complex|cytoplasm ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCAACGCCTTCAAAAAAAGAGT 0.366 DNAH8 1769 broad.mit.edu 37 6 38885824 38885825 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:38885823_38885824C>CA uc021yzh.1 + 69 10540_10541 c.10431_10432C>CA c.(10429-10434)gccaaafs p.A3477fs DNAH8_uc003ooe.2_Frame_Shift_Ins_p.A3260fs|LOC100131047_uc003oof.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTGAAAGTGCCAAAAAAGTCTG 0.396 IBTK 25998 broad.mit.edu 37 6 82891683 82891683 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:82891682_82891682CT>C uc003pjl.1 - 25 4166 c.3639_3639AG>G c.(3637-3639)aagfs p.K1213fs IBTK_uc011dyu.1_Frame_Shift_Del_p.K164fs|IBTK_uc011dyv.1_Frame_Shift_Del_p.K1198fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K1012fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.K907fs NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA. 1213 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TAGTAACAGACTTTTTTTCTT 0.348 ASCC3 10973 broad.mit.edu 37 6 101091910 101091910 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:101091909_101091909GT>G uc003pqk.3 - 22 4059 c.3730_3730AC>C c.(3730-3732)caafs p.Q1244fs NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA. 1244 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding p.Q1244H(1) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) ACACTTACTTGTTTTTTTAGA 0.289 SLC22A1 6580 broad.mit.edu 37 6 160557287 160557287 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr6:160557286_160557286CA>C uc003qtc.3 + 4 979 c.874_874CA>C c.(874-876)caafs p.Q292fs SLC22A1_uc003qtd.3_Frame_Shift_Del_p.Q292fs NM_003057 NP_003048 O15245 S22A1_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA. 292 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) GCTGTTATCACAAAAAAGAAA 0.488 PRKAR1B 5575 broad.mit.edu 37 7 720281 720281 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:720280_720280CG>C uc003siu.2 - 2 394 c.261_261CG>G c.(259-261)ccgfs p.P87fs PRKAR1B_uc021zyi.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siv.3_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyj.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyk.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siw.2_Frame_Shift_Del_p.P87fs NM_002735 NP_002726 P31321 KAP1_HUMAN Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA. 87 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity p.P87T(1) endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CCACAGGGTTCGGGGGGGTGG 0.622 POLM 27434 broad.mit.edu 37 7 44120414 44120415 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:44120413_44120414T>TG uc003tjt.3 - 1 382_383 c.290_291A>CA c.(289-291)ccafs p.P97fs POLM_uc003tju.3_Frame_Shift_Ins_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Ins_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Ins_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Ins_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Ins_p.P97fs NM_013284 NP_037416 Q9NP87 DPOLM_HUMAN Homo sapiens polymerase (DNA directed), mu (POLM), mRNA. 97 BRCT. DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 CCAGCAGAGCTGGGGGGGTGCA 0.634 DNA polymerases (catalytic subunits) OGDH 4967 broad.mit.edu 37 7 44747228 44747229 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:44747227_44747228A>AC uc003tln.3 + 21 3002_3003 c.2843_2844A>AC c.(2842-2844)tacfs p.Y948fs OGDH_uc011kbx.2_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.2_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.3_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.2_Frame_Shift_Ins_p.Y743fs NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 948 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GTGCAGAAGTACCCCAATGCTG 0.564 POM121 9883 broad.mit.edu 37 7 72397427 72397428 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:72397426_72397427T>TC uc003twk.2 + 2 947_948 c.947_948T>TC c.(946-948)ctcfs p.L316fs POM121_uc003twj.3_Frame_Shift_Ins_p.L51fs|POM121_uc010lam.1_Frame_Shift_Ins_p.L51fs NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 316 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGAGTGCCCTCAAAGAGAAGG 0.460 ABCB1 5243 broad.mit.edu 37 7 87178807 87178808 + Frame_Shift_Del DEL CT CT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:87178806_87178807CCT>C uc003uiz.2 - 14 2075_2076 c.1582_1583AGG>G c.(1582-1584)gggfs p.G528fs ABCB1_uc011khc.2_Frame_Shift_Del_p.G464fs NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 528 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CAACTGGGCCCCTCTCTCTCCA 0.505 LAMB1 3912 broad.mit.edu 37 7 107638926 107638926 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:107638925_107638925AT>A uc003vev.2 - 1 459 c.298_298AT>T c.(298-300)tgcfs p.C100fs LAMB1_uc003vew.2_Frame_Shift_Del_p.C76fs|LAMB1_uc003vex.3_Frame_Shift_Del_p.C76fs|LAMB1_uc010ljn.1_Frame_Shift_Del_p.C162fs NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 76 Laminin N-terminal. 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 NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATATGAAGCATTTTTTGTCC 0.363 WNT16 51384 broad.mit.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:120971878_120971878TG>T uc003vjw.3 + 2 750 c.493_493TG>T c.(493-495)tggfs p.W165fs WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron NM_057168 NP_476509 Q9UBV4 WNT16_HUMAN Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA. 165 Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity p.C168fs*4(2)|p.H164P(1) breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) AGGCTGGCACTGGGGGGGCTG 0.537 JHDM1D 80853 broad.mit.edu 37 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:139833447_139833447CT>C uc003vvm.3 - 2 294 c.290_290AG>G c.(289-291)aggfs p.R97fs NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 97 Linker. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) CCAGTTCCTCCTTTTTTTCAC 0.338 NOBOX 135935 broad.mit.edu 37 7 144096175 144096176 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:144096174_144096175T>TG uc022aoj.1 - 7 1337_1338 c.1337_1338A>CA c.(1336-1338)ccafs p.P446fs NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 446 Pro-rich. cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) TTCGCACAGGTGGGGGGCTGAA 0.629 NOS3 4846 broad.mit.edu 37 7 150698398 150698399 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr7:150698397_150698398A>AG uc003wif.3 + 10 1608_1609 c.1312_1313A>AG c.(1312-1314)aggfs p.R438fs NOS3_uc011kuy.2_Frame_Shift_Ins_p.R232fs|NOS3_uc011kva.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kuz.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kvb.2_Frame_Shift_Ins_p.R438fs NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 438 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GCAGAAGGCCAGGGGGGGCTGC 0.614 CHRNA6 8973 broad.mit.edu 37 8 42611529 42611529 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:42611528_42611528CT>C uc003xpj.3 - 4 1170 c.814_814AG>G c.(814-816)gtgfs p.V272fs CHRNA6_uc011lcw.2_Frame_Shift_Del_p.V257fs NM_004198 NP_004189 Q15825 ACHA6_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA. 272 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) CAAAGCGTCACTTTTTCACCA 0.438 CHCHD7 79145 broad.mit.edu 37 8 57129070 57129070 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:57129069_57129069CA>C uc003xsv.3 + 3 378 c.207_207CA>C c.(205-207)tacfs p.Y69fs CHCHD7_uc003xsu.3_Frame_Shift_Del_p.Y56fs|CHCHD7_uc003xss.3_3'UTR|CHCHD7_uc003xst.3_3'UTR|CHCHD7_uc003xsx.3_Frame_Shift_Del_p.Y44fs|CHCHD7_uc003xsw.3_3'UTR NM_001011668 NP_001011671 Q9BUK0 CHCH7_HUMAN Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 7 (CHCHD7), transcript variant 2, mRNA. 44 CHCHD7/PLAG1(12) endometrium(1) 1 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00159)|all cancers(17;0.0112) TCTTGAGGTACAAAAACTGCC 0.418 T PLAG1 salivary adenoma NSMAF 8439 broad.mit.edu 37 8 59548060 59548061 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:59548059_59548060C>CA uc011lee.2 - 2 349_350 c.288_289G>TG c.(286-291)tttgaafs p.F96fs NSMAF_uc003xtt.3_Frame_Shift_Ins_p.F65fs NM_001144772 NP_001138244 Q92636 FAN_HUMAN Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA. 65 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) GAATCTGGTTCAAAAATCACCG 0.317 PREX2 80243 broad.mit.edu 37 8 68992721 68992722 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:68992720_68992721G>GT uc003xxv.1 + 15 1712_1713 c.1685_1686G>GT c.(1684-1686)cgtfs p.R562fs PREX2_uc003xxu.1_Frame_Shift_Ins_p.R562fs|PREX2_uc011lez.1_Frame_Shift_Ins_p.R497fs NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 562 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTACTTTTCCGTTTTTTTTCGG 0.332 KCNB2 9312 broad.mit.edu 37 8 73480397 73480398 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:73480396_73480397C>CA uc003xzb.3 + 1 1015_1016 c.427_428C>CA c.(427-429)caafs p.Q143fs NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 143 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.Q143K(2)|p.E146fs*3(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CAGATATCATCAAAAAAAAGAA 0.446 ZFHX4 79776 broad.mit.edu 37 8 77617547 77617548 + Frame_Shift_Ins INS - - G rs13252403 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:77617546_77617547T>TG uc003yau.2 + 1 1610_1611 c.1223_1224T>TG c.(1222-1224)ctgfs p.L408fs ZFHX4_uc003yat.1_Frame_Shift_Ins_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L408fs NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 408 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAGTGAATCTGGGGGGGCTGT 0.535 HNSCC(33;0.089) ZFHX4 79776 broad.mit.edu 37 8 77775799 77775799 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:77775798_77775798AG>A uc003yau.2 + 10 10235 c.9848_9848AG>A c.(9847-9849)cagfs p.Q3283fs NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 3234 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGAACAGTGCAGGGGGGATAC 0.532 HNSCC(33;0.089) RGS22 26166 broad.mit.edu 37 8 101076179 101076181 + In_Frame_Del DEL CTT CTT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:101076178_101076180CCTT>C uc003yjb.1 - 7 1011_1013 c.816_818AAGG>G c.(814-819)gaagga>gaGa p.G273del RGS22_uc003yja.1_In_Frame_Del_p.G92del|RGS22_uc003yjc.1_In_Frame_Del_p.G261del|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_In_Frame_Del_p.G177del NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 273 Poly-Glu. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ttcttcttctccttcttcttctt 0.369 RIMS2 9699 broad.mit.edu 37 8 104898446 104898446 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:104898445_104898445GA>G uc003yls.3 + 1 1193 c.952_952GA>G c.(952-954)gaafs p.E318fs RIMS2_uc003ylp.3_Frame_Shift_Del_p.E540fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.E348fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.E348fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.E348fs NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 571 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAGTGTAAGTGAAAAAGGTAA 0.343 HNSCC(12;0.0054) FER1L6 654463 broad.mit.edu 37 8 125080031 125080032 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr8:125080030_125080031G>GA uc003yqw.3 + 27 3907_3908 c.3701_3702G>GA c.(3700-3702)ggafs p.G1234fs AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1234 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AATCCCAAGGGAAAAAAAGGCA 0.391 UBAP2 55833 broad.mit.edu 37 9 33948391 33948397 + Frame_Shift_Del DEL GGACTGG GGACTGG - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:33948390_33948396AGGACTGG>A uc003ztq.1 - 12 1359_1365 c.1246_1252CCAGTCCT>T c.(1246-1254)cagtcctcafs p.Q416fs UBAP2_uc011loc.1_Frame_Shift_Del_p.Q325fs|UBAP2_uc011lod.1_Frame_Shift_Del_p.Q149fs|UBAP2_uc011loe.1_Frame_Shift_Del_p.Q171fs|UBAP2_uc011lof.1_Frame_Shift_Del_p.Q341fs|UBAP2_uc011log.1_Frame_Shift_Del_p.Q362fs|UBAP2_uc003ztr.2_Frame_Shift_Del_p.Q288fs|UBAP2_uc003zts.3_Frame_Shift_Del_p.Q49fs NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA. 416 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CTGAGGACTGAGGACTGGGATGTTGGG 0.483 C9orf80 58493 broad.mit.edu 37 9 115456516 115456516 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:115456515_115456515TA>T uc004bgg.3 - 3 203 c.26_splice c.e3-1 p.G9_splice C9orf80_uc010muk.3_Splice_Site NM_021218 NP_067041 Q9NRY2 SOSSC_HUMAN Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA. 9 DNA repair|response to ionizing radiation SOSS complex protein binding p.?(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 4 TTTGAAAACCTAAAAAAAAGA 0.348 RABGAP1 23637 broad.mit.edu 37 9 125861042 125861043 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:125861041_125861042T>TA uc011lzh.2 + 22 2915_2916 c.2781_2782T>TA c.(2779-2784)attaaafs p.I927fs RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Ins_p.I266fs NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA. 927 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AATCTGAGATTAAAAAAAACAG 0.396 NUP214 8021 broad.mit.edu 37 9 134007993 134007994 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:134007992_134007993G>GA uc004cag.3 + 5 784_785 c.673_674G>GA c.(673-675)gaafs p.E225fs NUP214_uc004cah.3_Frame_Shift_Ins_p.E225fs|NUP214_uc004caf.1_Frame_Shift_Ins_p.E225fs NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 225 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GACTTTGCAGGAAAAAAAAGTC 0.361 T """DEK, SET, ABL1""" """AML, T-ALL""" BRD3 8019 broad.mit.edu 37 9 136918529 136918530 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:136918528_136918529C>CG uc004cew.3 - 1 259_260 c.71_72G>CG c.(70-72)ccgfs p.P24fs BRD3_uc004cex.2_Frame_Shift_Ins_p.P24fs NM_007371 NP_031397 Q15059 BRD3_HUMAN Homo sapiens bromodomain containing 3 (BRD3), mRNA. 24 nucleus protein binding p.P24fs*24(1) BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) TGGAGACCTCCGGGGGGGGTGG 0.658 T C15orf55 lethal midline carcinoma of young people COL5A1 1289 broad.mit.edu 37 9 137693829 137693830 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr9:137693828_137693829G>GC uc004cfe.3 + 37 3363_3364 c.2981_2982G>GC c.(2980-2982)ggcfs p.G994fs NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 994 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.G997fs*17(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGCCCTCCAGGCCCCCCCGGCG 0.658 OPTN 10133 broad.mit.edu 37 10 13151192 13151192 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:13151191_13151191AC>A uc001ilu.1 + 3 507 c.69_69AC>A c.(67-69)ggafs p.G23fs OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR NM_001008213 NP_068815 Q96CV9 OPTN_HUMAN Homo sapiens optineurin (OPTN), transcript variant 4, mRNA. 23 Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 CAGGAAATGGACCCCCCCACC 0.562 NDST2 8509 broad.mit.edu 37 10 75567575 75567576 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:75567574_75567575T>TA uc001jvk.2 - 2 1376_1377 c.572_573A>TA c.(571-573)ttafs p.L191fs NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Frame_Shift_Ins_p.L68fs|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Frame_Shift_Ins_p.L68fs NM_003635 NP_003626 P52849 NDST2_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA. 191 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.L191fs*12(2) cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) AGTTTGAGTGTAAAAAAAGGGG 0.589 PANK1 53354 broad.mit.edu 37 10 91359120 91359120 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:91359119_91359119CT>C uc001kgp.2 - 2 1470 c.1200_1200AG>G c.(1198-1200)aagfs p.K400fs PANK1_uc001kgn.2_Frame_Shift_Del_p.K175fs|PANK1_uc001kgo.2_Frame_Shift_Del_p.K175fs|PANK1_uc009xtu.2_Frame_Shift_Del_p.K202fs NM_148977 NP_683878 Q8TE04 PANK1_HUMAN Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA. 400 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) GGCAGTACGGCTTTTTTTGAC 0.433 BTRC 8945 broad.mit.edu 37 10 103310573 103310573 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:103310572_103310572AC>A uc001kta.3 + 13 1886 c.1773_1773AC>A c.(1771-1773)gaafs p.E591fs BTRC_uc001ktb.3_Frame_Shift_Del_p.E555fs|BTRC_uc001ktc.3_Frame_Shift_Del_p.E565fs NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA. 591 Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction SCF ubiquitin ligase complex|cytosol|nucleus endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CCCAAGCTGAACCCCCCCGTT 0.433 C10orf120 399814 broad.mit.edu 37 10 124457553 124457554 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr10:124457552_124457553G>GT uc001lgn.3 - 2 736_737 c.704_705C>AC c.(703-705)aacfs p.N235fs NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA. 235 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GTCTTTTTGTGTTTTTTCCCTC 0.371 SYT8 90019 broad.mit.edu 37 11 1857151 1857151 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:1857150_1857150CG>C uc001lue.1 + 3 463 c.335_335CG>C c.(334-336)ccgfs p.P112fs SYT8_uc010qxb.1_Frame_Shift_Del_p.P98fs|SYT8_uc001lud.2_Frame_Shift_Del_p.P112fs NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN Homo sapiens synaptotagmin VIII (SYT8), mRNA. 112 acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GAGTCCAGCCCGGGGGATGCT 0.642 ART1 417 broad.mit.edu 37 11 3681478 3681478 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:3681477_3681477TC>T uc001lye.1 + 2 829 c.728_728TC>T c.(727-729)atcfs p.I243fs ART1_uc009yeb.1_Frame_Shift_Del_p.I243fs NM_004314 NP_004305 P52961 NAR1_HUMAN Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA. 243 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 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) GAGGTGCTGATCCCCCCCTTT 0.612 SMTNL1 219537 broad.mit.edu 37 11 57310316 57310317 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:57310315_57310316A>AG uc021qjh.1 + 0 202_203 c.200_201A>AG c.(199-201)cagfs p.Q67fs NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN Homo sapiens smoothelin-like 1 (SMTNL1), mRNA. 67 p.T66I(1) endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GCAGAACTCCAGGGGGAAGCAA 0.535 ZFP91 80829 broad.mit.edu 37 11 58377810 58377811 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:58377809_58377810T>TA uc001nmx.4 + 4 785 c.617_splice c.e4+2 p.S206_splice ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA. 206 Glu-rich. Missing (in Ref. 4; AAH51743). activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGGCATTAGGTAAAAAAAACAT 0.312 YIF1A 10897 broad.mit.edu 37 11 66055105 66055105 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:66055104_66055104CG>C uc001ohk.4 - 3 574 c.392_392CG>G c.(391-393)cggfs p.R131fs YIF1A_uc009yrc.3_Frame_Shift_Del_p.R96fs NM_020470 NP_065203 O95070 YIF1A_HUMAN Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA. 131 protein transport|vesicle-mediated transport ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane p.R131L(2)|p.P130P(1)|p.P130R(1) endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 9 GAGGTCTTGCCGGGGGGGCAG 0.622 INPPL1 3636 broad.mit.edu 37 11 71948209 71948209 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:71948208_71948208GC>G uc001osf.3 + 25 3067 c.2920_2920GC>G c.(2920-2922)gccfs p.A974fs INPPL1_uc001osg.3_Frame_Shift_Del_p.A732fs NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 974 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding p.P977fs*7(1) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AGGGGTGGCGGCCCCCCCACC 0.632 ARHGEF17 9828 broad.mit.edu 37 11 73021527 73021527 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:73021526_73021526GC>G uc001otu.3 + 0 1864 c.1843_1843GC>G c.(1843-1845)gccfs p.A615fs NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 615 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TGGAAGCGATGCCCCCCCTGG 0.617 FAT3 120114 broad.mit.edu 37 11 92258089 92258090 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:92258088_92258089A>AT uc001pdj.4 + 1 3598_3599 c.3581_3582A>AT c.(3580-3582)aatfs p.N1194fs NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1194 Cadherin 11. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AATCCTCAGAATTTTTTTGCCA 0.381 TCGA Ovarian(4;0.039) PGR 5241 broad.mit.edu 37 11 100962610 100962610 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:100962609_100962609TA>T uc001pgh.2 - 3 2533 c.1790_splice c.e3-1 p.G597_splice PGR_uc001pgi.2_Splice_Site_p.G597_splice|PGR_uc009yww.1_Splice_Site|PGR_uc001pgj.2_Splice_Site|PGR_uc009ywx.1_Intron NM_000926 NP_000917 P06401 PRGR_HUMAN Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA. 597 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TGTGCTGCCCTAAAAAAACAA 0.378 DYNC2H1 79659 broad.mit.edu 37 11 102984302 102984302 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:102984301_102984301GT>G uc001phn.1 + 1 375 c.231_231GT>G c.(229-231)gtgfs p.V77fs DYNC2H1_uc009yxe.1_Frame_Shift_Del_p.V77fs|DYNC2H1_uc001pho.2_Frame_Shift_Del_p.V77fs NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 77 Stem (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AAGTGCTGGTGTTTTTCAAGC 0.294 BCL9L 283149 broad.mit.edu 37 11 118770652 118770653 + Frame_Shift_Ins INS - - G rs139987150 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:118770651_118770652T>TG uc001pug.3 - 6 4345_4346 c.3380_3381A>CA c.(3379-3381)ccafs p.P1127fs BCL9L_uc009zal.3_Frame_Shift_Ins_p.P1122fs NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA. 1127 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCGGTGGTGGTGGGGGGGGCAG 0.703 CCDC153 283152 broad.mit.edu 37 11 119061043 119061044 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:119061042_119061043A>AG uc010rze.2 - 6 813_814 c.599_600T>CT c.(598-600)cctfs p.P200fs NM_001145018 NP_001138490 Q494R4 CC153_HUMAN Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA. 200 lung(3)|stomach(1) 4 TCAAAGATCCAGGGGGGGTGAG 0.569 TBCEL 219899 broad.mit.edu 37 11 120930797 120930798 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr11:120930796_120930797T>TA uc001pxo.3 + 7 1161 c.956_splice c.e7+2 p.R319_splice TBCEL_uc009zay.3_Splice_Site_p.R319_splice|TBCEL_uc001pxp.3_Splice_Site_p.R175_splice|TBCEL_uc001pxq.3_Splice_Site NM_152715 NP_689928 Q5QJ74 TBCEL_HUMAN Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA. 319 cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) GCCATTCAGGTAAAAAATTCCC 0.391 TAS2R14 50840 broad.mit.edu 37 12 11091566 11091567 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:11091565_11091566A>AT uc010shi.2 - 0 241_242 c.241_242T>AT c.(241-243)atgfs p.M81fs PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_023922 NP_076411 Q9NYV8 T2R14_HUMAN Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA. 81 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 CATTCTGAACATTTTTTCAGTG 0.391 ATF7IP 55729 broad.mit.edu 37 12 14577802 14577803 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:14577801_14577802G>GA uc001rbw.3 + 1 1110_1111 c.952_953G>GA c.(952-954)gaafs p.E318fs ATF7IP_uc010shs.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbu.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc010sht.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbz.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rcb.3_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 318 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TGATTTTCTTGAAAAAAATGGA 0.317 OR6C70 390327 broad.mit.edu 37 12 55863619 55863620 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:55863618_55863619T>TA uc010spn.2 - 0 304_305 c.304_305A>TA c.(304-306)tacfs p.Y102fs NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA. 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 CAAGAATATGTAAAAAAACAAC 0.391 GLI1 2735 broad.mit.edu 37 12 57860075 57860075 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:57860074_57860074TG>T uc001snx.3 + 7 908 c.814_814TG>T c.(814-816)tggfs p.W272fs GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs NM_005269 NP_001153517 P08151 GLI1_HUMAN Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. 272 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CGTGTGCCACTGGGGGGGCTG 0.597 MBD6 114785 broad.mit.edu 37 12 57921401 57921402 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:57921400_57921401A>AC uc001soj.1 + 7 2417_2418 c.2193_2194A>AC c.(2191-2196)agacccfs p.R731fs MBD6_uc001sok.1_Frame_Shift_Ins_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 731 Pro-rich. chromosome|nucleus DNA binding|chromatin binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 ACTCAGGGAGACCCCCCCAACT 0.599 MBD6 114785 broad.mit.edu 37 12 57921732 57921733 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:57921731_57921732T>TG uc001soj.1 + 8 2561_2562 c.2337_2338T>TG c.(2335-2340)cctgggfs p.P779fs MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 779 Pro-rich. chromosome|nucleus DNA binding|chromatin binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 AGCTCCTCCCTGGGGGGGGAGC 0.629 USP15 9958 broad.mit.edu 37 12 62786091 62786091 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:62786090_62786090TA>T uc001src.2 + 17 2418 c.2343_2343TA>T c.(2341-2343)cctfs p.P781fs USP15_uc001srb.2_Frame_Shift_Del_p.P752fs NM_001252078 NP_001239007 Q9Y4E8 UBP15_HUMAN Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA. 781 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ATAAACCTCCTAAAAAACCCT 0.303 CUX2 23316 broad.mit.edu 37 12 111785948 111785949 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:111785947_111785948G>GC uc001tsa.2 + 21 4433_4434 c.4279_4280G>GC c.(4279-4281)gccfs p.A1427fs NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1427 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A1427T(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CCCACCTGGCGCCCCCCCTGCC 0.658 PIWIL1 9271 broad.mit.edu 37 12 130855728 130855729 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr12:130855727_130855728C>CT uc001uik.3 + 19 2599_2600 c.2328_2329C>CT c.(2326-2331)gactttfs p.D776fs PIWIL1_uc001uij.2_Frame_Shift_Ins_p.D776fs NM_004764 NP_004755 Q96J94 PIWL1_HUMAN Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA. 776 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development P granule|chromatoid body mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CCAGGTATGACTTTTTTATCGT 0.436 WASF3 10810 broad.mit.edu 37 13 27246074 27246075 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:27246073_27246074G>GA uc001uqv.3 + 5 712_713 c.487_488G>GA c.(487-489)gaafs p.E163fs WASF3_uc001uqw.3_Frame_Shift_Ins_p.E163fs NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN Homo sapiens WAS protein family, member 3 (WASF3), mRNA. 163 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CCTCTGGAAAGAAAAAATGCTA 0.371 ZC3H13 23091 broad.mit.edu 37 13 46543398 46543399 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:46543397_46543398A>AG uc010tfw.1 - 12 3287_3288 c.3281_3282T>CT c.(3280-3282)cctfs p.P1094fs ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Ins_p.P1094fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.P1094fs NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA. 1094 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05) ATAGAGGAGAAGGGGTACTACC 0.559 ITM2B 9445 broad.mit.edu 37 13 48830433 48830434 + In_Frame_Ins INS - - GAA TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:48830432_48830433T>TGAA uc001vbz.3 + 2 589_590 c.366_367T>TGAA c.(364-369)tttgaa>ttTGAAaa p.122_123FE>FE NM_021999 NP_068839 Q9Y287 ITM2B_HUMAN Homo sapiens integral membrane protein 2B (ITM2B), mRNA. 122 nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding p.I121I(1) endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) TTAAAATCTTTGAAGAAGAAGA 0.401 EDNRB 1910 broad.mit.edu 37 13 78474004 78474004 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr13:78474003_78474003GT>G uc001vkp.1 - 6 1608 c.1455_1455AC>C c.(1453-1455)aacfs p.N485fs EDNRB_uc001vkq.1_Frame_Shift_Del_p.N395fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.N395fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.N395fs NM_001201397 NP_001188326 P24530 EDNRB_HUMAN Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA. 395 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CCTTAAAGCAGTTTTTGAATC 0.338 CBLN3 643866 broad.mit.edu 37 14 24898055 24898055 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:24898054_24898054AG>A uc001wpg.4 - 0 678 c.207_207CT>T c.(205-207)cctfs p.P69fs KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank NM_001039771 NP_001034860 Q6UW01 CBLN3_HUMAN Homo sapiens cerebellin 3 precursor (CBLN3), mRNA. 69 C1q. cell junction|extracellular region|synapse central_nervous_system(1)|lung(3) 4 GBM - Glioblastoma multiforme(265;0.00159) CCACTCGCCCAGGGGGTGCCT 0.682 EML5 161436 broad.mit.edu 37 14 89082574 89082575 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:89082573_89082574C>CT uc021ryf.1 - 41 6058_6059 c.5809_5810G>AG c.(5809-5811)aggfs p.R1937fs EML5_uc001xxf.3_Frame_Shift_Ins_p.R724fs|EML5_uc021ryg.1_Frame_Shift_Ins_p.R1937fs|EML5_uc001xxd.3_Frame_Shift_Ins_p.R102fs|EML5_uc001xxe.3_Frame_Shift_Ins_p.R286fs NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA. 1929 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 ACCCAAGAACCTTTTGTGTTTT 0.416 CLMN 79789 broad.mit.edu 37 14 95669231 95669231 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr14:95669230_95669230TG>T uc001yef.2 - 8 2572 c.2456_2456CA>A c.(2455-2457)catfs p.H819fs NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA. 819 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GTGGTCCTCATGGGGGGCCAG 0.612 HERC2 8924 broad.mit.edu 37 15 28474843 28474844 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:28474842_28474843A>AT uc001zbj.3 - 31 5066_5067 c.4960_4961T>AT c.(4960-4962)atgfs p.M1654fs NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 1654 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCACTTTCTCATTTTTTCCACA 0.396 MFAP1 4236 broad.mit.edu 37 15 44106834 44106835 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr15:44106833_44106834A>AT uc001zth.1 - 3 666_667 c.482_483T>AT c.(481-483)aatfs p.N161fs NM_005926 NP_005917 P55081 MFAP1_HUMAN Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA. 161 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) CCATCTCTTCATTTTTTCTCTC 0.460 WDR90 197335 broad.mit.edu 37 16 715973 715973 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:715972_715972GC>G uc002cii.1 + 35 4511 c.4457_4457GC>G c.(4456-4458)agcfs p.S1486fs WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Frame_Shift_Del_p.S101fs|WDR90_uc002cio.1_Frame_Shift_Del_p.S85fs|WDR90_uc010bqx.1_Frame_Shift_Del_p.S85fs|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN Homo sapiens WD repeat domain 90 (WDR90), mRNA. 1486 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CTGGCATGGAGCCCCCCGTGC 0.692 C16orf42 115939 broad.mit.edu 37 16 1399497 1399497 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:1399496_1399496GC>G uc002cll.3 - 5 949 c.881_881GC>C c.(880-882)gctfs p.A294fs GNPTG_uc002clm.3_5'Flank NM_001001410 NP_001001410 Q9UJK0 TSR3_HUMAN Homo sapiens chromosome 16 open reading frame 42 (C16orf42), mRNA. 294 rRNA processing endometrium(1)|kidney(1)|lung(2) 4 Hepatocellular(780;0.0893) CCTGGCCTCAGCCCCCCGTCC 0.602 TRAF7 84231 broad.mit.edu 37 16 2225924 2225927 + Frame_Shift_Del DEL TGTC TGTC - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:2225923_2225926TTGTC>T uc002cow.3 + 17 1814_1817 c.1715_1718TTGTC>T c.(1714-1719)attgtcfs p.I572fs NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA. 572 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 AATCACCACATTGTCTGTGGCACC 0.564 AMDHD2 51005 broad.mit.edu 37 16 2578619 2578620 + Frame_Shift_Ins INS - - C rs142686134 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:2578618_2578619A>AC uc010uwc.2 + 7 1125_1126 c.1028_1029A>AC c.(1027-1029)gacfs p.D343fs AMDHD2_uc002cqp.3_Frame_Shift_Ins_p.D343fs|AMDHD2_uc002cqq.3_Intron|AMDHD2_uc010uwd.2_Frame_Shift_Ins_p.D107fs NM_001145815 NP_001139287 Q9Y303 NAGA_HUMAN Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA. 323 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 GTGGCCCACGACCCCCCCAGAG 0.663 GLYR1 84656 broad.mit.edu 37 16 4862229 4862230 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:4862228_4862229G>GC uc002cxx.4 - 12 1177_1178 c.1140_1141C>GC c.(1138-1143)gggcgcfs p.G380fs GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Ins_p.G294fs|GLYR1_uc002cya.2_Frame_Shift_Ins_p.G374fs|GLYR1_uc010uxv.1_Frame_Shift_Ins_p.G299fs NM_032569 NP_115958 Q49A26 GLYR1_HUMAN Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA. 380 pentose-phosphate shunt nucleus DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity p.R381fs*15(2)|p.G379R(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 TCCAGAAAGCGCCCCCCCCTGG 0.574 ABCC1 4363 broad.mit.edu 37 16 16165587 16165588 + Splice_Site INS - - GT TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:16165586_16165587G>GGT uc010bvi.3 + 14 2087 c.1912_splice c.e14+1 p.G638_splice ABCC1_uc010bvj.3_Splice_Site_p.G638_splice|ABCC1_uc010bvk.3_Splice_Site_p.G638_splice|ABCC1_uc010bvl.3_Splice_Site_p.G638_splice|ABCC1_uc010bvm.3_Splice_Site_p.G638_splice|ABCC1_uc002del.4_Splice_Site_p.G522_splice|ABCC1_uc021tdq.1_Intron|ABCC1_uc021tdr.1_Splice_Site_p.G95_splice NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 638 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGTCAAAGACGGTGTGTGTGTG 0.569 GPR139 124274 broad.mit.edu 37 16 20043389 20043390 + Frame_Shift_Ins INS - - G rs140063049 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:20043388_20043389C>CG uc002dgu.1 - 1 892_893 c.730_731G>CG c.(730-732)cgcfs p.R244fs GPR139_uc010vaw.1_Frame_Shift_Ins_p.R151fs NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 244 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CATGATGATGCGGGGGGCCCAA 0.545 ACSM2B 348158 broad.mit.edu 37 16 20556548 20556548 + Frame_Shift_Del DEL G G - rs146499503 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:20556547_20556547CG>C uc002dhj.4 - 10 1423 c.1213_1213CG>G c.(1213-1215)ggcfs p.G405fs ACSM2B_uc002dhk.4_Frame_Shift_Del_p.G405fs|ACSM2B_uc010bwf.1_Frame_Shift_Del_p.G405fs NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 405 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCTTCTGTGCCGGGGGGCAGG 0.517 ERN2 10595 broad.mit.edu 37 16 23718096 23718096 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:23718095_23718095CG>C uc002dma.4 - 5 780 c.611_611CG>G c.(610-612)cgcfs p.R204fs ERN2_uc010bxp.3_Frame_Shift_Del_p.R204fs|ERN2_uc010bxq.1_Frame_Shift_Del_p.R12fs NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 156 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AATGTAGAGGCGGGGGGTGGA 0.607 ARHGAP17 55114 broad.mit.edu 37 16 24942337 24942337 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:24942336_24942336TG>T uc002dnb.3 - 18 2377 c.2284_2284CA>A c.(2284-2286)agtfs p.S762fs ARHGAP17_uc002dmw.3_Frame_Shift_Del_p.S24fs|ARHGAP17_uc002dmy.3_Frame_Shift_Del_p.S207fs|ARHGAP17_uc002dmz.3_Frame_Shift_Del_p.S286fs|ARHGAP17_uc002dna.3_Frame_Shift_Del_p.S489fs|ARHGAP17_uc002dnc.3_Frame_Shift_Del_p.S684fs|ARHGAP17_uc010vcf.2_Frame_Shift_Del_p.S505fs NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. 762 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GGCGGAGTACTGGGGGGCGTT 0.607 SH2B1 25970 broad.mit.edu 37 16 28883208 28883209 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:28883207_28883208G>GC uc002dri.3 + 7 1855_1856 c.1416_1417G>GC c.(1414-1419)ttgcccfs p.L472fs NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Frame_Shift_Ins_p.L162fs|SH2B1_uc002drj.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drk.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drl.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc010vdd.2_Frame_Shift_Ins_p.L136fs|SH2B1_uc010vde.2_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drm.3_Frame_Shift_Ins_p.L472fs NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA. 472 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CCCCAGAGTTGCCCCCCCGCAT 0.629 SRCAP 10847 broad.mit.edu 37 16 30727398 30727398 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:30727397_30727397CT>C uc002dze.1 + 16 2889 c.2504_2504CT>C c.(2503-2505)cctfs p.P835fs SRCAP_uc021tgn.1_Frame_Shift_Del_p.P835fs|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P692fs NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 835 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GTTTTGAGGCCTTTTTTACTG 0.502 SPG7 6687 broad.mit.edu 37 16 89616910 89616910 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr16:89616909_89616909CA>C uc002fnj.3 + 12 1692 c.1671_1671CA>C c.(1669-1671)gccfs p.A557fs SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_5'UTR NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 557 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CAGGGACTGCCAAAAAGAGCA 0.607 RPH3AL 9501 broad.mit.edu 37 17 63688 63689 + Frame_Shift_Ins INS - - G rs138540198 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:63687_63688C>CG uc002fre.2 - 9 1246_1247 c.903_904G>CG c.(901-906)cccgctfs p.P301fs RPH3AL_uc010vpy.2_Frame_Shift_Ins_p.R252fs|RPH3AL_uc021tmx.1_Frame_Shift_Ins_p.P301fs|RPH3AL_uc002frf.2_Frame_Shift_Ins_p.P272fs|RPH3AL_uc010cjl.2_Frame_Shift_Ins_p.P272fs NM_006987 NP_008918 Q9UNE2 RPH3L_HUMAN Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA. 301 exocytosis|intracellular protein transport transport vesicle membrane Rab GTPase binding|cytoskeletal protein binding|zinc ion binding NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) GCGTCAGCAGCGGGGGCTCGTC 0.639 SPAG7 9552 broad.mit.edu 37 17 4864151 4864151 + Splice_Site DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:4864150_4864150TG>T uc002gae.3 - 2 119 c.86_splice c.e2-1 p.E29_splice SPAG7_uc002gaf.3_Splice_Site_p.E29_splice NM_004890 NP_004881 O75391 SPAG7_HUMAN Homo sapiens sperm associated antigen 7 (SPAG7), mRNA. 29 nucleus nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 CGGCCTGTTCTGGGGGTGAGA 0.512 FXR2 9513 broad.mit.edu 37 17 7496122 7496123 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:7496121_7496122T>TG uc002gia.2 - 13 1984_1985 c.1619_1620A>CA c.(1618-1620)ccafs p.P540fs SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank NM_004860 NP_004851 P51116 FXR2_HUMAN Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA. 540 cytosolic large ribosomal subunit RNA binding|protein binding p.P540fs*32(2)|p.A541fs*14(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) TGGCACTTGCTGGGGGGGGTTC 0.609 FLII 2314 broad.mit.edu 37 17 18150517 18150517 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:18150516_18150516GA>G uc002gsr.1 - 20 2694 c.2643_2643TC>C c.(2641-2643)ttcfs p.F881fs FLII_uc002gsq.1_Frame_Shift_Del_p.F752fs|FLII_uc010vxn.1_Frame_Shift_Del_p.F850fs|FLII_uc010vxo.1_Frame_Shift_Del_p.F826fs|FLII_uc002gss.1_Frame_Shift_Del_p.F880fs NM_002018 NP_002009 Q13045 FLII_HUMAN Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA. 881 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GCCGCGGCAGGAAAAGCGCAG 0.726 NF1 4763 broad.mit.edu 37 17 29553478 29553479 + Frame_Shift_Ins INS - - C rs145092683 TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:29553477_29553478A>AC uc002hgg.3 + 17 2409_2410 c.2026_2027A>AC c.(2026-2028)accfs p.T676fs NF1_uc002hgh.3_Frame_Shift_Ins_p.T676fs|NF1_uc010csn.2_Frame_Shift_Ins_p.T536fs|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 676 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4)|p.P678fs*10(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATGCAGCGGAACCCCCCCGATT 0.460 """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) HAP1 9001 broad.mit.edu 37 17 39881315 39881315 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:39881314_39881314TC>T uc002hxm.1 - 11 1667 c.1655_1655GA>A c.(1654-1656)gaafs p.E552fs JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Frame_Shift_Del_p.E500fs|HAP1_uc002hxo.1_Frame_Shift_Del_p.E483fs|HAP1_uc002hxp.1_Frame_Shift_Del_p.E475fs NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 552 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CGTGAAATCTTCCCCCCGCAT 0.617 LRRC37A2 474170 broad.mit.edu 37 17 45127300 45127301 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:45127299_45127300G>GA uc010wkj.1 + 1 851_852 c.497_498G>GA c.(496-498)agafs p.R166fs ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript A6NM11 L37A2_HUMAN Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973. 1302 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) TCACATTCCAGAAAAAAATACC 0.391 TMEM92 162461 broad.mit.edu 37 17 48356598 48356598 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:48356597_48356597AC>A uc002iqn.2 + 5 518 c.408_408AC>A c.(406-408)ccafs p.P136fs TMEM92_uc021tzz.1_Frame_Shift_Del_p.P136fs NM_001168215 NP_694961 Q6UXU6 TMM92_HUMAN Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA. 136 Pro-rich. integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 7 CCACAGAGCCACCCCCTCCCT 0.597 HLF 3131 broad.mit.edu 37 17 53345288 53345288 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:53345287_53345287TC>T uc002iug.1 + 1 816 c.291_291TC>T c.(289-291)attfs p.I97fs HLF_uc010dce.1_Frame_Shift_Del_p.I12fs|HLF_uc002iuh.2_Frame_Shift_Del_p.I12fs|HLF_uc010wni.1_Frame_Shift_Del_p.F46fs NM_002126 NP_002117 Q16534 HLF_HUMAN Homo sapiens hepatic leukemia factor (HLF), mRNA. 97 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 AAAATGGCATTCCCCCCAGCC 0.582 T TCF3 ALL RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 LRRC37A3 374819 broad.mit.edu 37 17 62856785 62856785 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:62856784_62856784GT>G uc002jey.2 - 10 4096 c.3480_3480AC>C c.(3478-3480)aacfs p.N1160fs LRRC37A3_uc010wqg.1_Frame_Shift_Del_p.N278fs|LRRC37A3_uc002jex.1_Frame_Shift_Del_p.N137fs|LRRC37A3_uc010wqf.1_Frame_Shift_Del_p.N198fs|LRRC37A3_uc010dek.1_Frame_Shift_Del_p.N166fs|DQ578599_uc021ubv.1_5'Flank NM_199340 NP_955372 O60309 L37A3_HUMAN Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA. 1160 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GTCTCTGCCGGTTTTTGCCTA 0.493 LRRC45 201255 broad.mit.edu 37 17 79983283 79983283 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr17:79983282_79983282TG>T uc002kde.3 + 4 800 c.560_560TG>T c.(559-561)ctgfs p.L187fs STRA13_uc002kdc.3_5'Flank|STRA13_uc002kdd.3_5'Flank NM_144999 NP_659436 Q96CN5 LRC45_HUMAN Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA. 187 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GTTGGCCTCCTGGGGGGCCGG 0.627 WDR7 23335 broad.mit.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:54358512_54358512CG>C uc002lgk.1 + 7 994 c.783_783CG>C c.(781-783)accfs p.T261fs WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA. 261 p.T261P(1) NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) AGACATGGACCGGGGGGGACT 0.418 SERPINB8 5271 broad.mit.edu 37 18 61652328 61652328 + Splice_Site DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr18:61652327_61652327GA>G uc002ljv.3 + 6 737 c.568_splice c.e6-1 p.E190_splice SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice NM_198833 NP_942130 P50452 SPB8_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA. 190 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TTTCCGTTAGGAAAAAAAGAC 0.373 OR7G2 390882 broad.mit.edu 37 19 9213599 9213600 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:9213598_9213599C>CA uc010xkk.2 - 0 384_385 c.384_385G>TG c.(382-387)tttgctfs p.F128fs NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA. 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A129fs*14(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 TCCAAGCCAGCAAAAAACAAGA 0.510 ZNF878 729747 broad.mit.edu 37 19 12155625 12155626 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:12155624_12155625G>GT uc021upl.1 - 3 757_758 c.591_592C>AC c.(589-594)aaacccfs p.K197fs ZNF878_uc002mta.1_Frame_Shift_Ins_p.K244fs NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN Homo sapiens zinc finger protein 878 (ZNF878), mRNA. 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CATTCATAGGGTTTTTTTGCAG 0.396 GCDH 2639 broad.mit.edu 37 19 13008601 13008601 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:13008600_13008600TG>T uc002mvq.3 + 10 1243 c.1166_1166TG>T c.(1165-1167)ctgfs p.L389fs GCDH_uc002mvp.3_Frame_Shift_Del_p.L389fs|GCDH_uc010xmt.2_Frame_Shift_Del_p.L223fs|GCDH_uc010xmu.2_Frame_Shift_Del_p.L345fs NM_000159 NP_000150 Q92947 GCDH_HUMAN Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 389 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding p.M388I(1) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 CGAGACATGCTGGGGGGGAAT 0.602 CIB3 117286 broad.mit.edu 37 19 16275654 16275654 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:16275653_16275653GC>G uc002nds.3 - 4 418 c.418_418GC>C c.(418-420)ctgfs p.L140fs CIB3_uc010eae.3_Frame_Shift_Del_p.L79fs|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Frame_Shift_Del_p.L91fs NM_054113 NP_473454 Q96Q77 CIB3_HUMAN Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA. 140 calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 TCGGCACTCAGCCCCCCCCGC 0.562 UPK1A 11045 broad.mit.edu 37 19 36166867 36166868 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:36166866_36166867T>TC uc010eeh.3 + 4 593_594 c.593_594T>TC c.(592-594)atcfs p.I198fs UPK1A_uc002oaw.3_Frame_Shift_Ins_p.I198fs|BC007817_uc002oax.1_5'Flank O00322 UPK1A_HUMAN Homo sapiens uroplakin 1A (UPK1A), mRNA. 198 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGAAACTTCATCCCCCTCAACG 0.634 CIC 23152 broad.mit.edu 37 19 42793162 42793163 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:42793161_42793162G>GC uc002otf.1 + 6 1093_1094 c.1053_1054G>GC c.(1051-1056)cggcccfs p.R351fs NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCTCAGCCCGGCCCCGAGCTTT 0.649 """Mis, F, S""" oligodendroglioma SPHK2 56848 broad.mit.edu 37 19 49131530 49131531 + Frame_Shift_Ins INS - - G rs142182513 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr19:49131529_49131530C>CG uc002pjw.3 + 3 1750_1751 c.1053_1054C>CG c.(1051-1056)cacgggfs p.H351fs SPHK2_uc010xzt.2_Frame_Shift_Ins_p.H230fs|SPHK2_uc002pjt.3_Frame_Shift_Ins_p.H83fs|SPHK2_uc002pjr.3_Frame_Shift_Ins_p.H289fs|SPHK2_uc002pjs.3_Frame_Shift_Ins_p.H289fs|SPHK2_uc002pju.3_Frame_Shift_Ins_p.H253fs|SPHK2_uc002pjv.3_Frame_Shift_Ins_p.H253fs|SPHK2_uc010xzu.1_Frame_Shift_Ins_p.H253fs NM_001204160 NP_001191089 Q9NRA0 SPHK2_HUMAN Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA. 289 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TGAACCAGCACGGGGGGTAGGT 0.624 SIGLEC1 6614 broad.mit.edu 37 20 3684491 3684491 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:3684490_3684490TG>T uc002wja.3 - 3 955 c.955_955CA>A c.(955-957)atcfs p.I319fs SIGLEC1_uc002wiz.4_Frame_Shift_Del_p.I319fs|SIGLEC1_uc002wjc.3_Frame_Shift_Del_p.I230fs NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 319 Ig-like C2-type 2. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.P318L(2)|p.P318P(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TGGAGGCTGATGGGGGGTGAG 0.617 ACSS2 55902 broad.mit.edu 37 20 33502206 33502206 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:33502205_33502205TC>T uc010gey.2 + 6 920 c.799_799TC>T c.(799-801)tccfs p.S267fs ACSS2_uc002xbc.2_Frame_Shift_Del_p.S172fs|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Frame_Shift_Del_p.S267fs|ACSS2_uc002xbe.2_Intron NM_001076552 NP_001070020 Q9NR19 ACSA_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA. 267 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus ATP binding|acetate-CoA ligase activity|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CACCAGCCAGTCCCCCCCAAT 0.537 PTPRT 11122 broad.mit.edu 37 20 40739003 40739003 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:40739002_40739002CG>C uc002xkg.3 - 22 3409 c.3225_3225CG>G c.(3223-3225)ccgfs p.P1075fs PTPRT_uc010ggj.3_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.3_Frame_Shift_Del_p.P278fs NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1075 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.H1075N(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCCCAGCTTCCGGGGGGTTGA 0.627 SYCP2 10388 broad.mit.edu 37 20 58467741 58467742 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr20:58467740_58467741C>CT uc002yaz.3 - 21 1948_1949 c.1809_1810G>AG c.(1807-1812)ttagacfs p.L603fs NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA. 603 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding p.L603S(1) NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CAGATGTTGTCTAAAACACCAG 0.332 NRIP1 8204 broad.mit.edu 37 21 16338326 16338327 + Frame_Shift_Del DEL TC TC - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr21:16338325_16338326TTC>T uc021whl.1 - 0 2188_2189 c.2188_2189GAA>A c.(2188-2190)aaafs p.K730fs NRIP1_uc002yjx.2_Frame_Shift_Del_p.K730fs NM_003489 NP_003480 P48552 NRIP1_HUMAN Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA. 730 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TAAGGGAGTTTTCTCTTTTTTT 0.406 EP300 2033 broad.mit.edu 37 22 41545782 41545783 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:41545781_41545782C>CT uc003azl.4 + 13 2791_2792 c.2396_2397C>CT c.(2395-2397)tctfs p.S799fs NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 799 Poly-Ser. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ATGTCTAGTTCTTCCTGCCCGG 0.416 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome PKDREJ 10343 broad.mit.edu 37 22 46653562 46653563 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:46653561_46653562G>GA uc003bhh.3 - 0 5658_5659 c.5658_5659C>TC c.(5656-5661)tttccafs p.F1886fs NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 1886 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGCTGTTCTGGAAAAAAATAGA 0.411 TBC1D22A 25771 broad.mit.edu 37 22 47188444 47188445 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chr22:47188443_47188444A>AC uc003bib.3 + 1 255_256 c.89_90A>AC c.(88-90)cacfs p.H30fs TBC1D22A_uc010haf.3_5'UTR|TBC1D22A_uc003bie.3_Intron|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_5'UTR NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA. 30 intracellular Rab GTPase activator activity|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGTGCCCAGCACCCCCCCTTTG 0.569 DMD 1756 broad.mit.edu 37 X 31222118 31222119 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:31222117_31222118G>GC uc004dda.1 - 66 10011_10012 c.9767_9768C>GC c.(9766-9768)ggcfs p.G3256fs DMD_uc004dcq.1_Frame_Shift_Ins_p.G527fs|DMD_uc004dcr.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcs.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dct.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcu.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcv.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcw.2_Frame_Shift_Ins_p.G1912fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.G1915fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.G3133fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.G3252fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.G3248fs|DMD_uc004dcp.1_Frame_Shift_Ins_p.G188fs|DMD_uc011mkb.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcm.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcn.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dco.1_Frame_Shift_Ins_p.G188fs|DMD_uc010ngm.3_Frame_Shift_Ins_p.G188fs NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 3256 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CAATGTTACTGCCCCCAAAGGA 0.406 ESX1 80712 broad.mit.edu 37 X 103495287 103495295 + In_Frame_Del DEL GCGTGAGCC GCGTGAGCC - rs144173947 byFrequency TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:103495286_103495294TGCGTGAGCC>T uc004ely.3 - 3 905_913 c.836_844GGCTCACGCA>A c.(835-846)ggctcacgcatg>gAtg p.279_282GSRM>D NM_153448 NP_703149 Q8N693 ESX1_HUMAN Homo sapiens ESX homeobox 1 (ESX1), mRNA. 279 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S280T(2) endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 ACAGGCGCCATGCGTGAGCCGGGTGGCAC 0.718 MAP7D3 79649 broad.mit.edu 37 X 135314194 135314195 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 g.chrX:135314193_135314194T>TG uc004ezt.3 - 7 1143_1144 c.922_923A>CA c.(922-924)cagfs p.Q308fs MAP7D3_uc004ezs.3_Frame_Shift_Ins_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Ins_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Ins_p.Q266fs NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA. 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) CACATTCACCTGGGGGGGTGCA 0.535