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 CHD5 26038 broad.mit.edu 37 1 6181182 6181182 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr1:6181182G>A uc001amb.1 - 33 4995 c.4895C>T c.(4894-4896)CCG>CTG p.P1632L CHD5_uc001alz.1_Missense_Mutation_p.P489L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1632 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) CAGCTGCTCCGGGGAGGGCGG 0.652 C1orf200 644997 broad.mit.edu 37 1 9713992 9713992 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr1:9713992G>A uc001aqc.3 - 2 499 c.349C>T c.(349-351)CGC>TGC p.R117C PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.3_Intron NR_027045 RecName: Full=Putative uncharacterized protein C1orf200; 0 all_lung(157;0.222) Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) Ggctgagagcggtagctcata 0.234 RORC 6097 broad.mit.edu 37 1 151789268 151789268 + Missense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr1:151789268C>T uc001ezh.2 - 4 278 c.170G>A c.(169-171)CGG>CAG p.R57Q RORC_uc001ezg.2_Missense_Mutation_p.R36Q|RORC_uc010pdo.1_Missense_Mutation_p.R111Q|RORC_uc010pdp.1_Missense_Mutation_p.R57Q NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a 57 Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCGCTGGCTCCGGCGGAAGAA 0.637 RPTN 126638 broad.mit.edu 37 1 152127687 152127687 + Missense_Mutation SNP G T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr1:152127687G>T uc001ezs.1 - 3 1953 c.1888C>A c.(1888-1890)CAA>AAA p.Q630K NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 630 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 CCCTGGTTTTGGTACCCTTCC 0.498 HMCN1 83872 broad.mit.edu 37 1 185958748 185958748 + Silent SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr1:185958748C>T uc001grq.1 + 21 3406 c.3177C>T c.(3175-3177)TAC>TAT p.Y1059Y HMCN1_uc001grr.1_Silent_p.Y400Y NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1059 Ig-like C2-type 7. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CAGCCGGCTACGCCAAAAGGA 0.483 IGFN1 91156 broad.mit.edu 37 1 201182690 201182690 + Missense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr1:201182690C>T uc001gwc.2 + 1 921 c.149C>T c.(148-150)ACC>ATC p.T50I IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 AGAGATGCTACCCGGAGTTCC 0.562 PLXDC2 84898 broad.mit.edu 37 10 20453469 20453469 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr10:20453469G>A uc001iqg.1 + 7 1493 c.856G>A c.(856-858)GTT>ATT p.V286I PLXDC2_uc001iqh.1_Missense_Mutation_p.V237I|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 286 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 TGCATTTGTCGTTGTCCACAG 0.443 MYO3A 53904 broad.mit.edu 37 10 26463063 26463063 + Silent SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr10:26463063C>T uc001isn.2 + 30 4230 c.3870C>T c.(3868-3870)AGC>AGT p.S1290S MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1290 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 CTACACTTAGCCAAAGGTCAA 0.428 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 DKK1 22943 broad.mit.edu 37 10 54076434 54076434 + Missense_Mutation SNP A G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr10:54076434A>G uc001jjr.2 + 4 822 c.668A>G c.(667-669)CAT>CGT p.H223R uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 223 DKK-type Cys-2. negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 TGTACCAAGCATAGGAGAAAA 0.463 TMEM26 219623 broad.mit.edu 37 10 63170245 63170245 + Silent SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr10:63170245C>T uc001jlo.2 - 6 1311 c.942G>A c.(940-942)TCG>TCA p.S314S TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 314 integral to membrane 0 Prostate(12;0.0112) GACTTCTCAACGAAGCACGGA 0.557 RUFY2 55680 broad.mit.edu 37 10 70154149 70154149 + Missense_Mutation SNP A G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr10:70154149A>G uc001job.2 - 5 890 c.563T>C c.(562-564)CTG>CCG p.L188P RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.L119P|RUFY2_uc010qiw.1_Missense_Mutation_p.L95P|RUFY2_uc001jod.1_Missense_Mutation_p.L153P|RUFY2_uc009xpv.1_Missense_Mutation_p.L36P|RUFY2_uc001joe.1_Missense_Mutation_p.L153P NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 202 RUN. nucleus metal ion binding ovary(1) 1 GCCAACCAGCAGCCCAACAAT 0.383 COL17A1 1308 broad.mit.edu 37 10 105815707 105815707 + Missense_Mutation SNP C A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr10:105815707C>A uc001kxr.2 - 18 1689 c.1520G>T c.(1519-1521)AGG>ATG p.R507M COL17A1_uc010qqv.1_Missense_Mutation_p.R491M NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 507 Extracellular (Potential).|Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CAGTATGCTCCTCCTGATCCT 0.597 UBQLN3 50613 broad.mit.edu 37 11 5529360 5529360 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr11:5529360G>A uc001may.1 - 2 1515 c.1429C>T c.(1429-1431)CTG>TTG p.L477L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 477 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGGATGGCAGCCAGGGAGGC 0.552 DCHS1 8642 broad.mit.edu 37 11 6646055 6646055 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr11:6646055G>A uc001mem.1 - 20 7601 c.7191C>T c.(7189-7191)TCC>TCT p.S2397S NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2397 Cadherin 23.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCAGAGACGGAGAGAATGG 0.557 RAG1 5896 broad.mit.edu 37 11 36597064 36597064 + Missense_Mutation SNP G A A rs104894286 TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr11:36597064G>A uc001mwu.3 + 2 2334 c.2210G>A c.(2209-2211)CGT>CAT p.R737H RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 737 R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GATGCCACCCGTCTGGAAGCC 0.502 Familial_Hemophagocytic_Lymphohistiocytosis OR5D18 219438 broad.mit.edu 37 11 55587399 55587399 + Silent SNP C T T rs147156620 by1000genomes TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr11:55587399C>T uc010rin.1 + 1 294 c.294C>T c.(292-294)TGC>TGT p.C98C NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TTTTAGGATGCGTAGTACAAT 0.433 OR8J3 81168 broad.mit.edu 37 11 55904467 55904467 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr11:55904467G>A uc010riz.1 - 1 728 c.728C>T c.(727-729)TCG>TTG p.S243L NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TATCATATGCGAAGCGCAGGT 0.403 SLC43A3 29015 broad.mit.edu 37 11 57193641 57193641 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr11:57193641G>A uc001nkg.2 - 3 415 c.5C>T c.(4-6)GCG>GTG p.A2V PRG2_uc001nke.2_5'Flank|SLC43A3_uc001nkh.2_Missense_Mutation_p.A2V|SLC43A3_uc010rjr.1_Missense_Mutation_p.A2V|SLC43A3_uc009yme.2_Missense_Mutation_p.A2V|SLC43A3_uc001nki.2_Missense_Mutation_p.A2V|SLC43A3_uc009ymf.1_Missense_Mutation_p.A2V|SLC43A3_uc010rjs.1_Missense_Mutation_p.A2V|SLC43A3_uc009ymg.1_Missense_Mutation_p.A2V NM_014096 NP_054815 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 2 transmembrane transport integral to membrane central_nervous_system(1) 1 GCCCTGGCCCGCCATGAGCAG 0.587 DYNC2H1 79659 broad.mit.edu 37 11 103006524 103006524 + Silent SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr11:103006524C>T uc001pho.2 + 17 2565 c.2421C>T c.(2419-2421)ATC>ATT p.I807I DYNC2H1_uc001phn.1_Silent_p.I807I|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 807 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AGAGATTCATCGGCATTCCAA 0.343 CD163L1 283316 broad.mit.edu 37 12 7519881 7519881 + Silent SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr12:7519881C>T uc001qsy.2 - 18 4256 c.4230G>A c.(4228-4230)GAG>GAA p.E1410E CD163L1_uc010sge.1_Silent_p.E1420E NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 1410 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 AGGTCTCCATCTCATGGAATA 0.498 KRT18 3875 broad.mit.edu 37 12 53346096 53346096 + Missense_Mutation SNP G A A rs147541172 byFrequency TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr12:53346096G>A uc001sbe.2 + 7 1211 c.1142G>A c.(1141-1143)CGC>CAC p.R381H KRT18_uc009zmn.1_Missense_Mutation_p.R381H|KRT18_uc001sbf.1_Missense_Mutation_p.R208H|KRT18_uc001sbg.2_Missense_Mutation_p.R381H|KRT18_uc009zmo.2_Missense_Mutation_p.R381H|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 381 Interaction with DNAJB6.|Coil 2.|Rod. 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 GCCACCTACCGCCGCCTGCTG 0.602 ACACB 32 broad.mit.edu 37 12 109693958 109693958 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr12:109693958G>A uc001tob.2 + 45 6299 c.6180G>A c.(6178-6180)ACG>ACA p.T2060T ACACB_uc001toc.2_Silent_p.T2060T|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.T726T NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2060 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) TGAAGGGAACGTGGCAGAGCG 0.602 PITPNM2 57605 broad.mit.edu 37 12 123473301 123473301 + Silent SNP T C C TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr12:123473301T>C uc001uej.1 - 18 2989 c.2850A>G c.(2848-2850)TCA>TCG p.S950S PITPNM2_uc001uek.1_Silent_p.S944S NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 950 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CCACGTCTGTTGACTCCCAGT 0.632 MYH6 4624 broad.mit.edu 37 14 23861788 23861789 + Frame_Shift_Del DEL TC - - TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr14:23861788_23861789delTC uc001wjv.2 - 25 3391_3392 c.3324_3325delGA c.(3322-3327)AAGAAAfs p.K1108fs NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1108_1109 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCCTTCAGTTTCTTCTGTAGTT 0.505 SPTBN5 51332 broad.mit.edu 37 15 42160382 42160382 + Missense_Mutation SNP C A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr15:42160382C>A uc001zos.2 - 34 6320 c.5987G>T c.(5986-5988)CGG>CTG p.R1996L hsa-mir-4310|MI0015840_5'Flank NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2031 Spectrin 16. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CACCTGGTCCCGCTGGTCCTG 0.642 ATP8B4 79895 broad.mit.edu 37 15 50209193 50209193 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr15:50209193G>A uc001zxu.2 - 20 2221 c.2079C>T c.(2077-2079)GAC>GAT p.D693D ATP8B4_uc010ber.2_Silent_p.D566D|ATP8B4_uc010ufd.1_Silent_p.D503D|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 693 Cytoplasmic (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 skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CATTCATGTCGTCAGTCAGCA 0.333 SH3GL3 6457 broad.mit.edu 37 15 84257442 84257442 + Nonsense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr15:84257442C>T uc002bjw.2 + 8 952 c.757C>T c.(757-759)CGA>TGA p.R253* SH3GL3_uc010uot.1_Nonsense_Mutation_p.R253*|SH3GL3_uc002bjx.2_Nonsense_Mutation_p.R184*|SH3GL3_uc002bju.2_Nonsense_Mutation_p.R261*|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 253 Interaction with ARC (By similarity). central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 TGTCCCCAGACGAGAATACAA 0.458 OR3A4 390756 broad.mit.edu 37 17 3213978 3213978 + Missense_Mutation SNP G A A rs141261218 by1000genomes TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr17:3213978G>A uc002fvi.2 + 1 440 c.374G>A c.(373-375)CGC>CAC p.R125H NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 GCCTATGACCGCTATCTGGCC 0.562 DNAH9 1770 broad.mit.edu 37 17 11865572 11865572 + Missense_Mutation SNP A G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr17:11865572A>G uc002gne.2 + 68 13300 c.13232A>G c.(13231-13233)CAG>CGG p.Q4411R DNAH9_uc010coo.2_Missense_Mutation_p.Q3629R|DNAH9_uc002gnf.2_Missense_Mutation_p.Q723R NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4411 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGGGACACACAGGTAAAGCTT 0.473 ALDH3A1 218 broad.mit.edu 37 17 19642827 19642827 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr17:19642827G>A uc010cqu.2 - 7 1440 c.1110C>T c.(1108-1110)AAC>AAT p.N370N ALDH3A1_uc010vzd.1_Silent_p.N370N|ALDH3A1_uc002gwj.2_Silent_p.N370N|ALDH3A1_uc010cqv.2_Silent_p.N369N|ALDH3A1_uc002gwk.2_Silent_p.N487N|ALDH3A1_uc002gwl.1_Silent_p.N297N NM_001135168 NP_001128640 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3A1 370 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(1)|pancreas(1) 2 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) CCACCTTGTCGTTGCTGGAGA 0.443 DNAI2 64446 broad.mit.edu 37 17 72283178 72283178 + Silent SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr17:72283178C>T uc002jkf.2 + 4 507 c.408C>T c.(406-408)GAC>GAT p.D136D DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 136 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 ATTTCAATGACGAGGAGGCCA 0.507 Kartagener_syndrome AFG3L2 10939 broad.mit.edu 37 18 12356814 12356814 + Missense_Mutation SNP C G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr18:12356814C>G uc002kqz.1 - 9 1156 c.1043G>C c.(1042-1044)GGT>GCT p.G348A NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN AFG3 ATPase family gene 3-like 2 348 ATP (Potential). cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 Adenosine triphosphate(DB00171) GCCTGGAGGACCAGTGAGAAT 0.418 DSG4 147409 broad.mit.edu 37 18 28986155 28986155 + Silent SNP A G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr18:28986155A>G uc002kwq.2 + 12 1887 c.1752A>G c.(1750-1752)TTA>TTG p.L584L DSG4_uc002kwr.2_Silent_p.L584L NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 584 Extracellular (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGGTGCAGTTATATGCCTGTG 0.483 THEG 51298 broad.mit.edu 37 19 362390 362390 + Missense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr19:362390C>T uc002lol.2 - 8 989 c.950G>A c.(949-951)CGA>CAA p.R317Q THEG_uc002lom.2_Missense_Mutation_p.R293Q NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 317 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGAGGATCTCGGTCAGGAAC 0.577 GPX4 2879 broad.mit.edu 37 19 1105195 1105195 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr19:1105195G>A uc010xgg.1 + 2 202 c.95G>A c.(94-96)CGG>CAG p.R32Q GPX4_uc010xgh.1_Missense_Mutation_p.R32Q|GPX4_uc010xgi.1_Missense_Mutation_p.R69Q NM_002085 NP_002076 P36969 GPX4_HUMAN glutathione peroxidase 4 isoform A precursor 32 multicellular organismal development|phospholipid metabolic process glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-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) Glutathione(DB00143) TGCGCGTCCCGGGACGACTGG 0.672 CD209 30835 broad.mit.edu 37 19 7808071 7808071 + Missense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr19:7808071C>T uc002mht.2 - 7 1136 c.1069G>A c.(1069-1071)GCG>ACG p.A357T CD209_uc010xju.1_Missense_Mutation_p.A196T|CD209_uc010dvp.2_Missense_Mutation_p.R295H|CD209_uc002mhr.2_Missense_Mutation_p.A333T|CD209_uc002mhs.2_Missense_Mutation_p.A287T|CD209_uc002mhu.2_Missense_Mutation_p.A265T|CD209_uc010dvq.2_Missense_Mutation_p.A351T|CD209_uc002mhq.2_Missense_Mutation_p.A357T|CD209_uc002mhv.2_Missense_Mutation_p.A333T|CD209_uc002mhx.2_Missense_Mutation_p.A313T|CD209_uc002mhw.2_Missense_Mutation_p.A221T|CD209_uc010dvr.2_Missense_Mutation_p.A121T NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 357 Extracellular (Probable).|C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 CTAAATTCCGCGCAGTCTTCC 0.527 MUC16 94025 broad.mit.edu 37 19 9072932 9072932 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr19:9072932G>A uc002mkp.2 - 3 14718 c.14514C>T c.(14512-14514)ACC>ACT p.T4838T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4840 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 ATGCTGAACCGGTGGTCCCCA 0.463 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G C C TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr19:12187275G>C uc002mtb.2 + 4 1483 c.1340G>C c.(1339-1341)CGT>CCT p.R447P ZNF844_uc010dym.1_Missense_Mutation_p.R290P NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGAAACCGTATGAGTGTA 0.433 ZNF345 25850 broad.mit.edu 37 19 37368940 37368940 + Missense_Mutation SNP G C C TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr19:37368940G>C uc002oex.2 + 3 1586 c.1208G>C c.(1207-1209)TGT>TCT p.C403S ZNF345_uc002oey.3_Missense_Mutation_p.C403S|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 403 C2H2-type 13. negative 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 nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTAAAGAATGTGGAAAGTCC 0.418 KLC3 147700 broad.mit.edu 37 19 45849928 45849929 + Frame_Shift_Ins INS - G G rs141629020 by1000genomes TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr19:45849928_45849929insG uc002pbf.1 + 3 500_501 c.385_386insG c.(385-387)CGGfs p.R129fs KLC3_uc002pbe.2_Frame_Shift_Ins_p.R129fs|KLC3_uc010ejy.1_Frame_Shift_Ins_p.R129fs|KLC3_uc002pbg.1_Frame_Shift_Ins_p.R143fs NM_177417 NP_803136 Q6P597 KLC3_HUMAN kinesin light chain 3 129 Potential. cytoplasm|kinesin complex|microtubule microtubule motor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GACGCAGCGGCGGCTTCGGGCC 0.713 KIR3DL1 3811 broad.mit.edu 37 19 55341632 55341632 + Missense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr19:55341632C>T uc002qhk.3 + 9 1300 c.1237C>T c.(1237-1239)CGC>TGC p.R413C KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.R338C|KIR3DL1_uc010esf.2_Missense_Mutation_p.R318C|KIR3DL1_uc010yfo.1_Missense_Mutation_p.R355C|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 413 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) AAAAATCACTCGCCCTTCTCA 0.507 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 GTF2A1L 11036 broad.mit.edu 37 2 48960045 48960045 + Missense_Mutation SNP G C C TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr2:48960045G>C uc002rwt.2 + 9 1409 c.1343G>C c.(1342-1344)AGG>ACG p.R448T LHCGR_uc002rwu.3_Intron|LHCGR_uc002rwv.2_Intron NM_172196 NP_751946 Q9UNN4 TF2AY_HUMAN general transcription factor IIA, 1-like isoform Error:Variant_position_missing_in_Q9UNN4_after_alignment regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter transcription factor TFIIA complex DNA binding|transcription coactivator activity 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTCCCAAGAAGGACATCGTTT 0.249 DPP10 57628 broad.mit.edu 37 2 116548904 116548904 + Nonsense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr2:116548904C>T uc002tla.1 + 19 2129 c.1672C>T c.(1672-1674)CGA>TGA p.R558* DPP10_uc002tlb.1_Nonsense_Mutation_p.R508*|DPP10_uc002tlc.1_Nonsense_Mutation_p.R554*|DPP10_uc002tle.2_Nonsense_Mutation_p.R562*|DPP10_uc002tlf.1_Nonsense_Mutation_p.R551* NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 558 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TTTTATGGACCGAAACCAGTA 0.289 NCL 4691 broad.mit.edu 37 2 232325239 232325239 + Missense_Mutation SNP T C C TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr2:232325239T>C uc002vru.2 - 5 989 c.848A>G c.(847-849)GAA>GGA p.E283G SNORD82_uc010fxw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN nucleolin 283 angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding ovary(2)|pancreas(1) 3 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TTTGGCCATTTCCTTCTTTCG 0.433 TOP1 7150 broad.mit.edu 37 20 39726941 39726941 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr20:39726941G>A uc002xjl.2 + 11 1185 c.939G>A c.(937-939)ACG>ACA p.T313T NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 313 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) AAGCCCAGACGGAAGCTCGGA 0.368 T NUP98 AML* SLC12A5 57468 broad.mit.edu 37 20 44665416 44665416 + Missense_Mutation SNP A G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr20:44665416A>G uc010zxl.1 + 5 608 c.532A>G c.(532-534)ACG>GCG p.T178A SLC12A5_uc002xra.2_Missense_Mutation_p.T155A|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.T155A NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 178 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGCAATTGCAACGAATGGTGT 0.612 TFF2 7032 broad.mit.edu 37 21 43767708 43767708 + Missense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr21:43767708C>T uc002zaw.2 - 3 405 c.263G>A c.(262-264)CGA>CAA p.R88Q NM_005423 NP_005414 Q03403 TFF2_HUMAN trefoil factor 2 precursor 88 P-type 2. digestion extracellular region pancreas(1) 1 ACAGTTTCTTCGGTCTGAGAC 0.602 KRTAP10-2 386679 broad.mit.edu 37 21 45970888 45970888 + Missense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr21:45970888C>T uc002zfi.1 - 1 501 c.454G>A c.(454-456)GTG>ATG p.V152M C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 152 13.|22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1) 1 CAGGTGGGCACGCAGCACACA 0.617 KRTAP10-7 386675 broad.mit.edu 37 21 46021573 46021573 + Missense_Mutation SNP T G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr21:46021573T>G uc002zfn.3 + 2 1062 c.1037T>G c.(1036-1038)GTG>GGG p.V346G C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 351 30 X 5 AA repeats of C-C-X(3). keratin filament 0 GCCTCCTGTGTGTCTCTCCTT 0.672 CDC42EP1 11135 broad.mit.edu 37 22 37964570 37964570 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr22:37964570G>A uc003asz.3 + 3 1322 c.919G>A c.(919-921)GGG>AGG p.G307R NM_152243 NP_689449 Q00587 BORG5_HUMAN CDC42 effector protein 1 307 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding 0 Melanoma(58;0.0574) CCCAGTGGGAGGGGGTCCCCG 0.692 SUSD5 26032 broad.mit.edu 37 3 33194586 33194586 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr3:33194586G>A uc003cfo.1 - 5 1956 c.1538C>T c.(1537-1539)ACG>ATG p.T513M NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 513 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 TGCCATGATCGTTGAGGGGAT 0.522 VILL 50853 broad.mit.edu 37 3 38048114 38048114 + Missense_Mutation SNP G T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr3:38048114G>T uc003chj.2 + 19 2666 c.2380G>T c.(2380-2382)GGG>TGG p.G794W VILL_uc003chl.2_Missense_Mutation_p.G794W NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 794 HP. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CACGATCAACGGGGGCCTGCG 0.672 SHISA5 51246 broad.mit.edu 37 3 48510545 48510545 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr3:48510545G>A uc003ctp.1 - 6 818 c.684C>T c.(682-684)TAC>TAT p.Y228Y SHISA5_uc003ctn.1_Nonsense_Mutation_p.Q97*|SHISA5_uc003ctm.1_Silent_p.Y125Y|SHISA5_uc011bbk.1_Nonsense_Mutation_p.Q137*|SHISA5_uc003cto.1_Silent_p.Y197Y|SHISA5_uc003ctq.1_Silent_p.Y221Y|SHISA5_uc003ctr.1_Silent_p.Y197Y|SHISA5_uc003cts.1_Silent_p.Y197Y|SHISA5_uc003ctt.2_3'UTR|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Silent_p.Y126Y NM_016479 NP_057563 Q8N114 SHSA5_HUMAN scotin precursor 228 Cytoplasmic (Potential).|Pro-rich. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding 0 AGGCCGGGTTGTAAGGAGGCT 0.637 POC1A 25886 broad.mit.edu 37 3 52156395 52156395 + Silent SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr3:52156395C>T uc003dcu.2 - 9 1299 c.981G>A c.(979-981)CTG>CTA p.L327L POC1A_uc003dcv.2_Silent_p.L289L|POC1A_uc003dcw.2_Silent_p.L327L NM_015426 NP_056241 Q8NBT0 POC1A_HUMAN WD repeat domain 51A isoform 1 327 centriole|microtubule basal body 0 AGCCACTTACCAGATTCCCCA 0.547 EPHA6 285220 broad.mit.edu 37 3 97124120 97124120 + Splice_Site SNP T A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr3:97124120T>A uc010how.1 + 6 1774 c.1731_splice c.e6+2 p.K577_splice NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TATGAGAAAGTAGGTCTTATT 0.353 IMPG2 50939 broad.mit.edu 37 3 100964883 100964883 + Missense_Mutation SNP C G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr3:100964883C>G uc003duq.1 - 12 1509 c.1306G>C c.(1306-1308)GAT>CAT p.D436H IMPG2_uc011bhe.1_Missense_Mutation_p.D299H NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 436 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GAGCTGAAATCAAGTGGTGGA 0.468 CASR 846 broad.mit.edu 37 3 122003194 122003194 + Missense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr3:122003194C>T uc003eev.3 + 7 2765 c.2393C>T c.(2392-2394)CCG>CTG p.P798L CASR_uc003eew.3_Missense_Mutation_p.P808L NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 798 Cytoplasmic (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CGGAAGCTGCCGGAGAACTTC 0.552 PLXNA1 5361 broad.mit.edu 37 3 126708342 126708342 + Silent SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr3:126708342C>T uc003ejg.2 + 1 841 c.837C>T c.(835-837)TGC>TGT p.C279C NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 302 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CCATTGGCTGCGAGCAGGCGG 0.662 THPO 7066 broad.mit.edu 37 3 184090840 184090840 + Missense_Mutation SNP G A A rs144953270 TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr3:184090840G>A uc003fol.1 - 6 738 c.523C>T c.(523-525)CGG>TGG p.R175W THPO_uc003fom.1_Missense_Mutation_p.R171W|THPO_uc003fon.2_Intron|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Intron|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Intron|THPO_uc003for.1_Intron|THPO_uc003fos.1_Intron NM_000460 NP_000451 P40225 TPO_HUMAN thrombopoietin precursor 175 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity ovary(1) 1 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGTGGGGCCCGCCTGACGCAG 0.562 DEFB131 644414 broad.mit.edu 37 4 9452176 9452176 + Frame_Shift_Del DEL G - - TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr4:9452176delG uc011bwt.1 + 2 149 c.149delG c.(148-150)TGTfs p.C50fs NM_001040448 NP_001035538 P59861 DB131_HUMAN defensin, beta 131 precursor 50 defense response to bacterium extracellular region 0 ATTAGATACTGTGCTGACTTC 0.383 PLEKHG4B 153478 broad.mit.edu 37 5 163559 163559 + Silent SNP G A A rs114260538 byFrequency TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr5:163559G>A uc003jak.2 + 11 2354 c.2304G>A c.(2302-2304)CCG>CCA p.P768P NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 768 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGAAGCTCCCGCTGTGGCAGC 0.652 MAST4 375449 broad.mit.edu 37 5 65892596 65892596 + Missense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr5:65892596C>T uc003jur.3 + 1 421 c.113C>T c.(112-114)TCG>TTG p.S38L MAST4_uc010iwz.2_Missense_Mutation_p.S38L NM_198828 NP_942123 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 38 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGTGCTTCCTCGGCCGAGTCC 0.731 TAF9 6880 broad.mit.edu 37 5 68647987 68647987 + Silent SNP G T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr5:68647987G>T uc003jwa.2 - 5 512 c.420C>A c.(418-420)ATC>ATA p.I140I TAF9_uc003jwb.2_Silent_p.I137I NM_016283 NP_057367 Q16594 TAF9_HUMAN TAF9 RNA polymerase II, TATA box binding Error:Variant_position_missing_in_Q16594_after_alignment histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) GCTGATGCACGATTTCTTCCT 0.373 SLCO6A1 133482 broad.mit.edu 37 5 101794118 101794138 + In_Frame_Del DEL TTCCAAGTTTCAGATCTTTAA - - TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr5:101794118_101794138delTTCCAAGTTTCAGATCTTTAA uc003knn.2 - 6 1251_1271 c.1079_1099delTTAAAGATCTGAAACTTGGAA c.(1078-1101)CTTAAAGATCTGAAACTTGGAACT>CCT p.360_367LKDLKLGT>P SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_In_Frame_Del_p.360_367LKDLKLGT>P|SLCO6A1_uc003knq.2_In_Frame_Del_p.298_305LKDLKLGT>P NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 360_367 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) TTGATATTAGTTCCAAGTTTCAGATCTTTAAGTCTGCTGTC 0.285 SEC24A 10802 broad.mit.edu 37 5 134033601 134033601 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr5:134033601G>A uc003kzs.2 + 15 2408 c.2120G>A c.(2119-2121)CGG>CAG p.R707Q SEC24A_uc011cxu.1_Missense_Mutation_p.R471Q NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 707 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 zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGTATTTCTCGGTATTCAGCA 0.383 SH3RF2 153769 broad.mit.edu 37 5 145435652 145435652 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr5:145435652G>A uc003lnt.2 + 8 1669 c.1431G>A c.(1429-1431)CGG>CGA p.R477R SH3RF2_uc011dbl.1_Silent_p.R477R|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.2_5'UTR|SH3RF2_uc011dbn.1_5'UTR NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 477 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGATCCACGGCAAAGCCGTC 0.562 TRIM41 90933 broad.mit.edu 37 5 180651777 180651777 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr5:180651777G>A uc003mne.1 + 1 1472 c.778G>A c.(778-780)GTG>ATG p.V260M uc003mnb.1_Missense_Mutation_p.R39C|TRIM41_uc003mnc.1_Missense_Mutation_p.V260M|TRIM41_uc003mnd.1_Missense_Mutation_p.V260M|TRIM41_uc003mnf.1_RNA NM_033549 NP_291027 Q8WV44 TRI41_HUMAN tripartite motif-containing 41 isoform 1 260 B box-type. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding 0 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAGCACAGCGTGGTGCCATT 0.552 MCM3 4172 broad.mit.edu 37 6 52141940 52141940 + Nonsense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr6:52141940G>A uc003pan.1 - 8 1200 c.1090C>T c.(1090-1092)CGA>TGA p.R364* MCM3_uc011dwu.1_Nonsense_Mutation_p.R318* NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 364 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) GGGATAGCTCGGGGTGCAGTG 0.597 BMP5 653 broad.mit.edu 37 6 55684540 55684540 + Missense_Mutation SNP C T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr6:55684540C>T uc003pcq.2 - 2 1308 c.596G>A c.(595-597)CGG>CAG p.R199Q BMP5_uc011dxf.1_Missense_Mutation_p.R199Q NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 199 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) CTTGTATATCCGGAATTCAGC 0.368 NOX3 50508 broad.mit.edu 37 6 155764472 155764472 + Missense_Mutation SNP C T T rs142034685 TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr6:155764472C>T uc003qqm.2 - 5 524 c.421G>A c.(421-423)GCA>ACA p.A141T NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 141 Ferric oxidoreductase.|Extracellular (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) TTGGAAAGTGCGGCCAGAAGT 0.577 DTX2 113878 broad.mit.edu 37 7 76109950 76109950 + Missense_Mutation SNP A G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr7:76109950A>G uc003uff.3 + 4 680 c.124A>G c.(124-126)ATC>GTC p.I42V DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Missense_Mutation_p.I42V|DTX2_uc003ufh.3_Missense_Mutation_p.I42V|DTX2_uc003ufj.3_Missense_Mutation_p.I42V NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 42 WWE 1. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 CTGCAGCTTCATCGAGCAGCA 0.662 CALCR 799 broad.mit.edu 37 7 93067382 93067382 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr7:93067382G>A uc003umv.1 - 12 1283 c.1022C>T c.(1021-1023)GCG>GTG p.A341V CALCR_uc011kia.1_Missense_Mutation_p.A121V|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A307V|CALCR_uc003umw.2_Missense_Mutation_p.A307V NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 323 Helical; Name=5; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CACAAGTGCCGCCATGACAGG 0.348 LAMB1 3912 broad.mit.edu 37 7 107600245 107600245 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr7:107600245G>A uc003vew.2 - 19 2684 c.2349C>T c.(2347-2349)TCC>TCT p.S783S LAMB1_uc003vev.2_Silent_p.S807S|LAMB1_uc003vex.2_Silent_p.S783S NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 783 Laminin EGF-like 6. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATCACACACGGAACTTAACG 0.572 PODXL 5420 broad.mit.edu 37 7 131195806 131195807 + Frame_Shift_Ins INS - G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr7:131195806_131195807insG uc003vqw.3 - 2 744_745 c.486_487insC c.(484-489)AGCAGCfs p.S162fs PODXL_uc003vqx.3_Frame_Shift_Ins_p.S162fs NM_001018111 NP_001018121 O00592 PODXL_HUMAN podocalyxin-like isoform 1 precursor 162_163 Thr-rich.|Extracellular (Potential). cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle breast(2)|pancreas(1) 3 Melanoma(18;0.162) ACACTGTGGCTGCTTTTCCCCC 0.535 TRYX3 136541 broad.mit.edu 37 7 141955123 141955123 + Missense_Mutation SNP C T T rs138718517 TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr7:141955123C>T uc003vxb.2 - 3 508 c.188G>A c.(187-189)CGG>CAG p.R63Q TRYX3_uc003vxc.3_Missense_Mutation_p.R63Q NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 63 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) CAATATCACCCGAAGCTTTCT 0.428 ADAMDEC1 27299 broad.mit.edu 37 8 24251644 24251644 + Missense_Mutation SNP C G G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr8:24251644C>G uc003xdz.2 + 4 567 c.347C>G c.(346-348)ACG>AGG p.T116R ADAMDEC1_uc010lub.2_Missense_Mutation_p.T37R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.T37R NM_014479 NP_055294 O15204 ADEC1_HUMAN ADAM-like, decysin 1 isoform 1 116 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2) 2 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GAAATTACCACGAAACCTGAG 0.463 FZD3 7976 broad.mit.edu 37 8 28385048 28385048 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr8:28385048G>A uc003xgx.2 + 5 1249 c.771G>A c.(769-771)TTG>TTA p.L257L FZD3_uc010lvb.2_Silent_p.L257L NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 257 Helical; Name=2; (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TTGGATTTTTGCTTGAAGATC 0.378 GPR124 25960 broad.mit.edu 37 8 37693258 37693258 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr8:37693258G>A uc003xkj.2 + 13 2383 c.2020G>A c.(2020-2022)GTG>ATG p.V674M GPR124_uc010lvy.2_Intron NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 674 Extracellular (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GAGGCGTGGCGTGGCCACCCC 0.652 C8orf84 157869 broad.mit.edu 37 8 73993342 73993342 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr8:73993342G>A uc003xzf.2 - 2 526 c.321C>T c.(319-321)AAC>AAT p.N107N NM_153225 NP_694957 Q8IVN8 RPESP_HUMAN RPE-spondin precursor 107 TSP type-1. immune response extracellular region polysaccharide binding|scavenger receptor activity 0 GCGCCCCGCCGTTCTGAGGCT 0.657 VPS13B 157680 broad.mit.edu 37 8 100874087 100874087 + Silent SNP C A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr8:100874087C>A uc003yiv.2 + 58 11314 c.11203C>A c.(11203-11205)CGG>AGG p.R3735R VPS13B_uc003yiw.2_Silent_p.R3710R NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3735 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) GCACTACAACCGGCAGGAGGA 0.657 PKHD1L1 93035 broad.mit.edu 37 8 110463211 110463211 + Silent SNP A T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr8:110463211A>T uc003yne.2 + 41 6287 c.6183A>T c.(6181-6183)GGA>GGT p.G2061G NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2061 Extracellular (Potential).|IPT/TIG 13. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TAGGCACGGGAGCTGAGCAAG 0.458 HNSCC(38;0.096) OREG0018931 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FLJ46321 389763 broad.mit.edu 37 9 84609453 84609453 + Silent SNP C A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr9:84609453C>A uc004amn.2 + 4 4115 c.4068C>A c.(4066-4068)ACC>ACA p.T1356T NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1356 integral to membrane 0 GGATGAAGACCTCTTTGCAGT 0.433 ST6GALNAC6 30815 broad.mit.edu 37 9 130653179 130653179 + Silent SNP C A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chr9:130653179C>A uc004bso.1 - 5 560 c.441G>T c.(439-441)GTG>GTT p.V147V ST6GALNAC6_uc004bsn.1_Silent_p.V113V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Silent_p.V147V|ST6GALNAC6_uc004bsq.1_Silent_p.V113V|ST6GALNAC6_uc004bsr.2_Silent_p.V113V|ST6GALNAC6_uc010mxp.1_RNA NM_013443 NP_038471 Q969X2 SIA7F_HUMAN sialytransferase 7F 147 Lumenal (Potential). protein glycosylation integral to Golgi membrane|plasma membrane 0 TCTTGTTGCCCACATCAGCTG 0.607 ZMYM3 9203 broad.mit.edu 37 X 70466243 70466243 + Silent SNP G T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chrX:70466243G>T uc004dzh.1 - 15 2619 c.2532C>A c.(2530-2532)GTC>GTA p.V844V BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.V844V|ZMYM3_uc004dzj.1_Silent_p.V832V NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 844 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) CCTTGCAGGAGACGCCCCGAT 0.597 ERCC6L 54821 broad.mit.edu 37 X 71428507 71428507 + Missense_Mutation SNP A T T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chrX:71428507A>T uc004eaq.1 - 2 207 c.110T>A c.(109-111)CTG>CAG p.L37Q PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_5'UTR NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 37 TPR 1. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) TGCTTCTTCCAGGTCTCCATT 0.363 SLC6A14 11254 broad.mit.edu 37 X 115590033 115590033 + Missense_Mutation SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chrX:115590033G>A uc004eqi.2 + 14 1945 c.1841G>A c.(1840-1842)CGT>CAT p.R614H NM_007231 NP_009162 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid 614 Cytoplasmic (Potential). cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2)|pancreas(1) 3 L-Proline(DB00172) GAACAACATCGTGGGGAAAGA 0.403 ZNF280C 55609 broad.mit.edu 37 X 129339341 129339341 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chrX:129339341G>A uc004evm.2 - 17 2245 c.2091C>T c.(2089-2091)TCC>TCT p.S697S NM_017666 NP_060136 Q8ND82 Z280C_HUMAN zinc finger protein 280C 697 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1) 3 GATCTAAGCCGGAAGAATCAG 0.323 F9 2158 broad.mit.edu 37 X 138643870 138643870 + Silent SNP G A A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chrX:138643870G>A uc004fas.1 + 8 1055 c.1026G>A c.(1024-1026)ACG>ACA p.T342T F9_uc004fat.1_Silent_p.T304T NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 342 Peptidase S1. T -> K (in HEMB; mild).|T -> M (in HEMB; moderate). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AGGAATACACGAACATCTTCC 0.433 F8 2157 broad.mit.edu 37 X 154194774 154194774 + Frame_Shift_Del DEL T - - TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0dcd7c56-8322-4598-9a89-89194700fd3c 624f5c85-5108-422b-be38-42b6c5976c02 g.chrX:154194774delT uc004fmt.2 - 8 1369 c.1198delA c.(1198-1200)ACTfs p.T400fs NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 400 F5/8 type A 2.|Plastocyanin-like 3. 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) TGTACCCAAGTTTTAGGATGC 0.448