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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter BSDC1 55108 broad.mit.edu 37 1 32842193 32842193 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:32842193G>A uc001bvh.3 - 9 873 c.826C>T c.(826-828)CCA>TCA p.P276S BSDC1_uc010ohg.1_Missense_Mutation_p.P293S|BSDC1_uc010ohh.1_Missense_Mutation_p.P220S|BSDC1_uc010ohi.1_Missense_Mutation_p.P181S|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Missense_Mutation_p.P172S|BSDC1_uc001bvi.2_Missense_Mutation_p.P293S NM_018045 NP_060515 Q9NW68 BSDC1_HUMAN BSD domain containing 1 isoform b 276 protein binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTCTCTGATGGAGTCACCTCT 0.567 49 101 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39800459 39800459 + Silent SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:39800459C>T uc010oiu.1 + 1 3650 c.3519C>T c.(3517-3519)GAC>GAT p.D1173D MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2738 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) GAATTGTTGACATATTTAGTG 0.378 9 39 --- --- --- --- PASS DMAP1 55929 broad.mit.edu 37 1 44685944 44685944 + Missense_Mutation SNP T G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:44685944T>G uc001clq.1 + 10 1387 c.1307T>G c.(1306-1308)ATC>AGC p.I436S DMAP1_uc001clr.1_Missense_Mutation_p.I436S|DMAP1_uc001cls.1_Missense_Mutation_p.I436S|DMAP1_uc010oku.1_Missense_Mutation_p.I426S NM_001034024 NP_001029196 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 436 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) AAGGACACCATCATTGATGTG 0.652 OREG0013438 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 22 --- --- --- --- PASS PLK3 1263 broad.mit.edu 37 1 45267395 45267395 + Silent SNP C T T rs142337193 byFrequency TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:45267395C>T uc001cmn.2 + 4 637 c.537C>T c.(535-537)CGC>CGT p.R179R PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 179 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) TGCACCAGCGCGGCATCTTGC 0.517 21 65 --- --- --- --- PASS ALG6 29929 broad.mit.edu 37 1 63879795 63879795 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:63879795C>T uc010oow.1 + 10 1185 c.880C>T c.(880-882)CGT>TGT p.R294C ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_Intron|ALG6_uc010oox.1_Missense_Mutation_p.R93C NM_013339 NP_037471 Q9Y672 ALG6_HUMAN dolichyl pyrophosphate Man9GlcNAc2 294 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity 0 TATTTTGCCACGTCACATCCA 0.269 41 68 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86591318 86591318 + Missense_Mutation SNP T C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:86591318T>C uc001dlj.2 - 3 743 c.701A>G c.(700-702)TAC>TGC p.Y234C COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Y234C NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 234 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) ATATCTGCAGTAGTCTGCAGA 0.378 32 47 --- --- --- --- PASS CLCA2 9635 broad.mit.edu 37 1 86920831 86920831 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:86920831C>A uc001dlr.3 + 14 2615 c.2453C>A c.(2452-2454)GCT>GAT p.A818D NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 818 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TTTAACAATGCTATTTTAGTA 0.338 3 67 --- --- --- --- PASS KIAA1324 57535 broad.mit.edu 37 1 109740262 109740262 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:109740262C>T uc001dwq.2 + 17 2424 c.2288C>T c.(2287-2289)GCT>GTT p.A763V KIAA1324_uc009wex.1_Missense_Mutation_p.A713V|KIAA1324_uc009wey.2_Missense_Mutation_p.A676V|KIAA1324_uc010ovg.1_Missense_Mutation_p.A661V|KIAA1324_uc001dwr.2_Missense_Mutation_p.A413V|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 763 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GTCAGCCTTGCTGATCGACTT 0.448 3 14 --- --- --- --- PASS RHOC 389 broad.mit.edu 37 1 113244258 113244258 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:113244258C>G uc001ecp.1 - 6 786 c.486G>C c.(484-486)AAG>AAC p.K162N RHOC_uc001ecq.1_Missense_Mutation_p.K162N|RHOC_uc001ecr.1_Missense_Mutation_p.K162N|RHOC_uc009wgk.1_Missense_Mutation_p.K162N NM_001042679 NP_001036144 P08134 RHOC_HUMAN ras homolog gene family, member C precursor 162 axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|signal transducer activity ovary(1) 1 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTCCTTGGTCTTGGCTGAGC 0.602 30 38 --- --- --- --- PASS CD2 914 broad.mit.edu 37 1 117297478 117297478 + Missense_Mutation SNP A T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:117297478A>T uc001egu.3 + 2 316 c.287A>T c.(286-288)CAT>CTT p.H96L CD2_uc010owz.1_Missense_Mutation_p.H96L|CD2_uc010oxa.1_Missense_Mutation_p.H96L NM_001767 NP_001758 P06729 CD2_HUMAN CD2 molecule precursor 96 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity breast(1) 1 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) AAAATTAAGCATCTGAAGACC 0.294 8 33 --- --- --- --- PASS PRKAB2 5565 broad.mit.edu 37 1 146638191 146638191 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:146638191C>G uc001epe.2 - 5 569 c.424G>C c.(424-426)GTT>CTT p.V142L PRKAB2_uc010ozm.1_Missense_Mutation_p.V60L|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Missense_Mutation_p.V142L NM_005399 NP_005390 O43741 AAKB2_HUMAN AMP-activated protein kinase beta 2 142 carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm lung(2)|skin(1) 3 all_hematologic(923;0.0487) Adenosine monophosphate(DB00131) TGACTGGTAACCACAGGCTGA 0.343 15 49 --- --- --- --- PASS ECM1 1893 broad.mit.edu 37 1 150484888 150484888 + Missense_Mutation SNP T A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:150484888T>A uc001eus.2 + 8 1343 c.1144T>A c.(1144-1146)TTG>ATG p.L382M ECM1_uc001eut.2_Missense_Mutation_p.L257M|ECM1_uc001euu.2_Missense_Mutation_p.L411M|ECM1_uc001euv.2_Missense_Mutation_p.L409M|ECM1_uc009wlu.2_Missense_Mutation_p.L142M NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 382 2 X approximate repeats.|2. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCACCACCACTTGTGTTGCCG 0.567 44 101 --- --- --- --- PASS THBS3 7059 broad.mit.edu 37 1 155167970 155167970 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:155167970C>G uc001fix.2 - 18 2139 c.2116G>C c.(2116-2118)GAT>CAT p.D706H RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.D697H|THBS3_uc001fiz.2_Missense_Mutation_p.D669H|THBS3_uc001fiy.2_Missense_Mutation_p.D235H|THBS3_uc010pfu.1_Missense_Mutation_p.D586H|THBS3_uc010pfv.1_RNA NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 706 TSP type-3 8. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) 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) ACCACAGCATCATTGTCAAAG 0.557 54 111 --- --- --- --- PASS DAP3 7818 broad.mit.edu 37 1 155695241 155695241 + Missense_Mutation SNP A T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:155695241A>T uc001flq.2 + 5 508 c.339A>T c.(337-339)AAA>AAT p.K113N DAP3_uc001flr.2_Missense_Mutation_p.K113N|DAP3_uc001fls.2_Missense_Mutation_p.K113N|DAP3_uc010pgl.1_Missense_Mutation_p.K72N|DAP3_uc001flt.2_Missense_Mutation_p.K79N|DAP3_uc001flu.2_Missense_Mutation_p.K113N|DAP3_uc010pgm.1_Missense_Mutation_p.K79N NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 113 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) ATTACCTGAAAAACACCAGTT 0.448 31 144 --- --- --- --- PASS FCRL4 83417 broad.mit.edu 37 1 157557276 157557276 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:157557276C>T uc001fqw.2 - 5 773 c.637G>A c.(637-639)GAA>AAA p.E213K FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 213 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AGCTGTGTTTCACAGCTCAGG 0.498 157 147 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157660175 157660175 + Silent SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:157660175G>A uc001frb.2 - 9 1852 c.1560C>T c.(1558-1560)ATC>ATT p.I520I FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.I520I|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.I246I|FCRL3_uc001frc.1_Silent_p.I520I NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 520 Ig-like C2-type 6.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) AGTGGGCCGAGATGTTCCCCA 0.567 22 164 --- --- --- --- PASS FCRL2 79368 broad.mit.edu 37 1 157718392 157718392 + Silent SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:157718392C>T uc001fre.2 - 10 1469 c.1410G>A c.(1408-1410)GTG>GTA p.V470V FCRL2_uc001frd.2_Silent_p.V217V|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 470 Cytoplasmic (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AAACCACATCCACATCTACAG 0.493 84 97 --- --- --- --- PASS ITLN2 142683 broad.mit.edu 37 1 160917718 160917718 + Splice_Site SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:160917718C>G uc001fxd.2 - 7 883 c.825_splice c.e7+1 p.H275_splice ITLN2_uc009wts.2_Splice_Site_p.H274_splice|ITLN2_uc010pju.1_Splice_Site_p.H192_splice NM_080878 NP_543154 Q8WWU7 ITLN2_HUMAN intelectin 2 precursor signal transduction extracellular region receptor binding|sugar binding ovary(1) 1 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAAAAACTCACATGCTCAGTG 0.308 15 76 --- --- --- --- PASS DDR2 4921 broad.mit.edu 37 1 162745548 162745548 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:162745548G>A uc001gcf.2 + 16 2428 c.1963G>A c.(1963-1965)GAA>AAA p.E655K DDR2_uc001gcg.2_Missense_Mutation_p.E655K NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 655 Cytoplasmic (Potential).|Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TATGATCACTGAATACATGGA 0.453 10 251 --- --- --- --- PASS C1orf105 92346 broad.mit.edu 37 1 172414239 172414239 + Silent SNP T C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:172414239T>C uc001gik.2 + 2 244 c.48T>C c.(46-48)ATT>ATC p.I16I PIGC_uc001gii.1_5'Flank|PIGC_uc001gij.1_5'Flank|PIGC_uc001gil.2_5'Flank|PIGC_uc001gin.2_5'Flank|PIGC_uc001gio.2_5'Flank NM_139240 NP_640333 O95561 CA105_HUMAN hypothetical protein LOC92346 16 skin(1) 1 TTGACAAGATTCCTTGGCTTA 0.418 16 81 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175372327 175372327 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:175372327C>T uc001gkp.1 - 2 1006 c.925G>A c.(925-927)GAG>AAG p.E309K TNR_uc009wwu.1_Missense_Mutation_p.E309K|TNR_uc010pmz.1_Missense_Mutation_p.E309K NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 309 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CAGAGCCCCTCCTCACATTGT 0.607 24 37 --- --- --- --- PASS RFWD2 64326 broad.mit.edu 37 1 175916338 175916338 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:175916338G>A uc001gku.1 - 19 2427 c.2171C>T c.(2170-2172)ACA>ATA p.T724I RFWD2_uc001gkv.1_Missense_Mutation_p.T700I|RFWD2_uc001gkw.1_Missense_Mutation_p.T484I|RFWD2_uc009wwv.2_Missense_Mutation_p.T523I|RFWD2_uc001gkt.1_Missense_Mutation_p.T563I NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 724 WD 7. 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 TACCTTAATTGTACCCTGACT 0.373 50 179 --- --- --- --- PASS KIF14 9928 broad.mit.edu 37 1 200524526 200524526 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:200524526G>C uc010ppk.1 - 28 4849 c.4410C>G c.(4408-4410)ATC>ATG p.I1470M KIF14_uc010ppj.1_Missense_Mutation_p.I979M NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1470 Required for CIT-binding.|Potential. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 ATTCAGCAAAGATGTTTTCAA 0.239 16 54 --- --- --- --- PASS TIMM17A 10440 broad.mit.edu 37 1 201926485 201926485 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:201926485A>G uc001gxc.2 + 2 139 c.103A>G c.(103-105)AAA>GAA p.K35E NM_006335 NP_006326 Q99595 TI17A_HUMAN translocase of inner mitochondrial membrane 17 35 Helical; (Potential). protein targeting to mitochondrion integral to membrane|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity 0 TCAAGCAATCAAAGGTTTTCG 0.448 17 96 --- --- --- --- PASS PPFIA4 8497 broad.mit.edu 37 1 203030153 203030153 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:203030153C>T uc001gyz.2 + 10 1915 c.1322C>T c.(1321-1323)ACT>ATT p.T441I PPFIA4_uc009xaj.2_Missense_Mutation_p.T1072I|PPFIA4_uc010pqf.1_Missense_Mutation_p.T654I|PPFIA4_uc001gza.2_Missense_Mutation_p.T441I|PPFIA4_uc001gzb.1_Missense_Mutation_p.T136I NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 441 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 GAAACATCTACTAAAACAGTG 0.567 61 104 --- --- --- --- PASS PLEKHA6 22874 broad.mit.edu 37 1 204197299 204197299 + Silent SNP T G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:204197299T>G uc001hau.2 - 21 3260 c.2943A>C c.(2941-2943)TCA>TCC p.S981S NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 981 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GCTGGCTCTCTGAGTCCTGGG 0.632 35 43 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235972415 235972415 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr1:235972415C>A uc001hxj.2 - 5 1878 c.1703G>T c.(1702-1704)AGC>ATC p.S568I LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S568I NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 568 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) GACACAAGTGCTGCTCAAGGA 0.453 Chediak-Higashi_syndrome 4 141 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1652209 1652209 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:1652209C>T uc002qxa.2 - 17 3407 c.3343G>A c.(3343-3345)GAT>AAT p.D1115N NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1115 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) AGAAGCGGATCGATGCCGCCC 0.592 17 39 --- --- --- --- PASS HS1BP3 64342 broad.mit.edu 37 2 20840876 20840876 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:20840876G>C uc002rdw.1 - 3 304 c.263C>G c.(262-264)GCC>GGC p.A88G HS1BP3_uc002rdx.2_Missense_Mutation_p.A88G|HS1BP3_uc002rdy.2_Missense_Mutation_p.A88G NM_022460 NP_071905 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 88 PX. cell communication phosphatidylinositol binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGGAGGCTGGCTGCTGCATA 0.532 31 260 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21228898 21228898 + Silent SNP A C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:21228898A>C uc002red.2 - 26 10970 c.10842T>G c.(10840-10842)CCT>CCG p.P3614P NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3614 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGCCAAGGTCAGGGAAATCAT 0.493 24 85 --- --- --- --- PASS WDR43 23160 broad.mit.edu 37 2 29152454 29152454 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:29152454G>C uc002rmo.2 + 11 1347 c.1315G>C c.(1315-1317)GAA>CAA p.E439Q NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 439 nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GGTTAGCATTGAAGAACGTCT 0.353 26 38 --- --- --- --- PASS ZFP36L2 678 broad.mit.edu 37 2 43452225 43452225 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:43452225C>T uc002rsv.3 - 2 1009 c.718G>A c.(718-720)GAT>AAT p.D240N LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 240 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) TGCAACGCATCGCGCGTGCCA 0.612 15 15 --- --- --- --- PASS ABCG8 64241 broad.mit.edu 37 2 44079798 44079798 + Missense_Mutation SNP T A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:44079798T>A uc002rtq.2 + 6 845 c.755T>A c.(754-756)GTG>GAG p.V252E ABCG8_uc010yoa.1_Missense_Mutation_p.V252E NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 252 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CACAACCTGGTGAAGACCTTG 0.582 45 75 --- --- --- --- PASS BMP10 27302 broad.mit.edu 37 2 69093080 69093080 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:69093080C>T uc002sez.1 - 2 1117 c.958G>A c.(958-960)GGA>AGA p.G320R NM_014482 NP_055297 O95393 BMP10_HUMAN bone morphogenetic protein 10 preproprotein 320 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding ovary(2) 2 CAGTAGTTTCCTTTGGCGTTC 0.517 32 50 --- --- --- --- PASS TGFBRAP1 9392 broad.mit.edu 37 2 105886097 105886097 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:105886097C>T uc002tcq.2 - 11 2122 c.2038G>A c.(2038-2040)GAG>AAG p.E680K TGFBRAP1_uc010fjc.2_Missense_Mutation_p.E449K|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.E680K NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 680 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 AGCGCCTTCTCATGCTCGCCC 0.642 16 13 --- --- --- --- PASS GCC2 9648 broad.mit.edu 37 2 109103003 109103003 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:109103003A>G uc002tec.2 + 16 3983 c.3829A>G c.(3829-3831)ATC>GTC p.I1277V GCC2_uc002ted.2_Missense_Mutation_p.I1176V NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1277 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 GAAGCACAAAATCCACGAGCA 0.458 9 101 --- --- --- --- PASS CYP27C1 339761 broad.mit.edu 37 2 127958804 127958804 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:127958804C>A uc002tod.2 - 3 413 c.282G>T c.(280-282)ATG>ATT p.M94I NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, 94 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) AGGTCTTGAACATGCTAAACA 0.552 67 55 --- --- --- --- PASS SMPD4 55627 broad.mit.edu 37 2 130914945 130914945 + Missense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:130914945G>T uc002tqq.1 - 12 1613 c.1093C>A c.(1093-1095)CAT>AAT p.H365N SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.H58N|SMPD4_uc010yzy.1_Missense_Mutation_p.H114N|SMPD4_uc010yzz.1_Missense_Mutation_p.H29N|SMPD4_uc002tqr.1_Missense_Mutation_p.H336N|SMPD4_uc002tqs.1_Missense_Mutation_p.H233N|SMPD4_uc002tqt.1_Missense_Mutation_p.H214N|SMPD4_uc010zaa.1_Missense_Mutation_p.H223N|SMPD4_uc010zab.1_Missense_Mutation_p.H263N|SMPD4_uc010zac.1_Missense_Mutation_p.H106N|SMPD4_uc010zad.1_Intron NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 326 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) ACCAACACATGCTCCTCAGTA 0.647 11 12 --- --- --- --- PASS IMP4 92856 broad.mit.edu 37 2 131103936 131103936 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:131103936G>C uc002tra.1 + 9 788 c.771G>C c.(769-771)ATG>ATC p.M257I NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 257 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) CAGTGTACATGATCCGTCTGG 0.627 7 3 --- --- --- --- PASS NR4A2 4929 broad.mit.edu 37 2 157186681 157186681 + Silent SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:157186681C>T uc002tyz.3 - 3 440 c.18G>A c.(16-18)GCG>GCA p.A6A NR4A2_uc002tyx.3_Intron|NR4A2_uc010zcf.1_Silent_p.A6A|NR4A2_uc010zcg.1_5'Flank NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 6 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 ACCCATACTGCGCCTGAACAC 0.537 4 36 --- --- --- --- PASS WIPF1 7456 broad.mit.edu 37 2 175440042 175440042 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:175440042C>T uc002uiy.2 - 5 580 c.248G>A c.(247-249)GGA>GAA p.G83E uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.G83E|WIPF1_uc010fqt.1_Missense_Mutation_p.G83E|WIPF1_uc002ujc.1_Missense_Mutation_p.G83E|WIPF1_uc002uiz.2_Missense_Mutation_p.G83E|WIPF1_uc002ujb.1_Missense_Mutation_p.G83E|WIPF1_uc010zep.1_Missense_Mutation_p.G83E NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 83 Gly-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 gccaccacctcctccgccaaa 0.299 37 93 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179434109 179434109 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:179434109C>G uc010zfg.1 - 275 69270 c.69046G>C c.(69046-69048)GAA>CAA p.E23016Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E16711Q|TTN_uc010zfi.1_Missense_Mutation_p.E16644Q|TTN_uc010zfj.1_Missense_Mutation_p.E16519Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23943 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) CTGCTGTTTTCTAATGTAAGC 0.413 71 126 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179468920 179468920 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:179468920C>T uc010zfg.1 - 231 47014 c.46790G>A c.(46789-46791)CGC>CAC p.R15597H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9292H|TTN_uc010zfi.1_Missense_Mutation_p.R9225H|TTN_uc010zfj.1_Missense_Mutation_p.R9100H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16524 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) TCCAGGAAGGCGATAAGGATC 0.453 30 104 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179550282 179550282 + Silent SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:179550282G>A uc010zfg.1 - 125 28847 c.28623C>T c.(28621-28623)CAC>CAT p.H9541H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.H6202H|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10468 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) TAGAAATAATGTGCAGCTTTT 0.348 22 40 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179733966 179733966 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:179733966C>T uc002unf.1 - 5 604 c.547G>A c.(547-549)GTA>ATA p.V183I NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 183 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TTTTCTTTTACAGGGGCTCCT 0.378 36 74 --- --- --- --- PASS ITGAV 3685 broad.mit.edu 37 2 187529339 187529339 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:187529339G>A uc002upq.2 + 20 2320 c.2044G>A c.(2044-2046)GAT>AAT p.D682N ITGAV_uc010frs.2_Missense_Mutation_p.D646N|ITGAV_uc010zfv.1_Missense_Mutation_p.D636N NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 682 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ACTGCAGGCTGATTTCATCGG 0.443 48 264 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196722264 196722264 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:196722264A>G uc002utj.3 - 44 8352 c.8251T>C c.(8251-8253)TCA>CCA p.S2751P NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2751 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TCATGAAGTGACTGCAGAAAC 0.378 3 126 --- --- --- --- PASS FAM119A 151194 broad.mit.edu 37 2 208478081 208478081 + Missense_Mutation SNP T G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:208478081T>G uc002vcf.2 - 4 506 c.346A>C c.(346-348)ACT>CCT p.T116P FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.T116P|FAM119A_uc002vcg.3_Missense_Mutation_p.T116P NM_145280 NP_660323 Q8WXB1 MT21A_HUMAN hypothetical protein LOC151194 116 integral to membrane methyltransferase activity 0 LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135) ACAGTTTTAGTTTGGATATGA 0.383 63 51 --- --- --- --- PASS ABCB6 10058 broad.mit.edu 37 2 220083188 220083188 + Missense_Mutation SNP T G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:220083188T>G uc002vkc.1 - 1 485 c.208A>C c.(208-210)ATC>CTC p.I70L ABCB6_uc010fwe.1_Missense_Mutation_p.I70L|ABCB6_uc010zku.1_RNA|ATG9A_uc002vkd.1_RNA NM_005689 NP_005680 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B, member 6 70 cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAGGGAGAGATGCGAGGGCCG 0.721 4 20 --- --- --- --- PASS ATG9A 79065 broad.mit.edu 37 2 220089359 220089359 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:220089359C>T uc002vke.1 - 8 920 c.734G>A c.(733-735)CGT>CAT p.R245H ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.R245H NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 245 Cytoplasmic (By similarity). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTGAGACCACGGGTGAAGAA 0.552 21 60 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238234216 238234216 + Missense_Mutation SNP C A A rs113992704 TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:238234216C>A uc002vwl.2 - 43 9765 c.9480G>T c.(9478-9480)AAG>AAT p.K3160N COL6A3_uc002vwo.2_Missense_Mutation_p.K2954N|COL6A3_uc010znj.1_Missense_Mutation_p.K2553N|COL6A3_uc002vwj.2_Missense_Mutation_p.K541N NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 3160 Nonhelical region.|BPTI/Kunitz inhibitor. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GAGCGCAAACCTTTTCACATT 0.383 20 115 --- --- --- --- PASS SATB1 6304 broad.mit.edu 37 3 18457567 18457567 + Silent SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:18457567A>G uc003cbh.2 - 4 2182 c.447T>C c.(445-447)CCT>CCC p.P149P SATB1_uc003cbi.2_Silent_p.P149P|SATB1_uc003cbj.2_Silent_p.P149P NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 149 PDZ-like dimerization domain. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 CTGTAGCATCAGGGGCATCTG 0.403 3 137 --- --- --- --- PASS ITGA9 3680 broad.mit.edu 37 3 37514869 37514869 + Missense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:37514869G>T uc003chd.2 + 3 391 c.338G>T c.(337-339)GGA>GTA p.G113V ITGA9_uc003chc.2_Missense_Mutation_p.G113V NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 113 Extracellular (Potential).|FG-GAP 2. axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) ACGTCCTGCGGAAAGACCTGC 0.602 41 16 --- --- --- --- PASS CCR1 1230 broad.mit.edu 37 3 46245443 46245443 + Missense_Mutation SNP A T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:46245443A>T uc003cph.1 - 2 433 c.362T>A c.(361-363)ATC>AAC p.I121N CCR3_uc003cpg.1_Intron NM_001295 NP_001286 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 121 Helical; Name=3; (Potential). cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity skin(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GATGAAAAAGATCTCGCTGTA 0.507 38 34 --- --- --- --- PASS CCRL2 9034 broad.mit.edu 37 3 46449908 46449908 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:46449908G>A uc003cpp.3 + 2 623 c.338G>A c.(337-339)GGC>GAC p.G113D CCRL2_uc010hjg.2_Missense_Mutation_p.G125D|CCRL2_uc010hjf.2_Missense_Mutation_p.G113D NM_003965 NP_003956 O00421 CCRL2_HUMAN chemokine (C-C motif) receptor-like 2 isoform 1 113 Helical; Name=3; (Potential). chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) TACTTCGTGGGCCTGTACAGT 0.483 17 106 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48684274 48684274 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:48684274G>C uc003cul.2 - 21 7498 c.7217C>G c.(7216-7218)TCC>TGC p.S2406C CELSR3_uc003cuf.1_Missense_Mutation_p.S2476C|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.S389C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2406 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AATGATAATGGAGATCCCAGG 0.612 14 16 --- --- --- --- PASS DALRD3 55152 broad.mit.edu 37 3 49053093 49053093 + Silent SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:49053093A>G uc003cvk.1 - 12 1580 c.1560T>C c.(1558-1560)CTT>CTC p.L520L WDR6_uc003cvj.2_3'UTR|WDR6_uc011bby.1_3'UTR|WDR6_uc010hkn.2_3'UTR|WDR6_uc011bbz.1_3'UTR|DALRD3_uc003cvl.1_Missense_Mutation_p.S512P|DALRD3_uc003cvm.1_Silent_p.L353L|DALRD3_uc010hko.1_Missense_Mutation_p.S382P NM_001009996 NP_001009996 Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 520 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCTCTCAGAAGCTGCAGGC 0.562 26 40 --- --- --- --- PASS TMPRSS7 344805 broad.mit.edu 37 3 111766781 111766781 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:111766781C>A uc010hqb.2 + 5 718 c.548C>A c.(547-549)TCC>TAC p.S183Y TMPRSS7_uc011bhr.1_Missense_Mutation_p.S38Y NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 309 Extracellular (Potential).|CUB 1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 ATTTACGACTCCCTTTTGCCC 0.468 17 70 --- --- --- --- PASS SLC9A10 285335 broad.mit.edu 37 3 111901040 111901040 + Missense_Mutation SNP T G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:111901040T>G uc003dyu.2 - 21 2811 c.2589A>C c.(2587-2589)GAA>GAC p.E863D SLC9A10_uc011bhu.1_Missense_Mutation_p.E126D|SLC9A10_uc010hqc.2_Missense_Mutation_p.E815D NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 863 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 ATAGAACTTCTTCAACAGTAA 0.254 68 73 --- --- --- --- PASS CCDC80 151887 broad.mit.edu 37 3 112357363 112357363 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:112357363G>A uc003dzf.2 - 2 1608 c.1390C>T c.(1390-1392)CGG>TGG p.R464W CCDC80_uc011bhv.1_Missense_Mutation_p.R464W|CCDC80_uc003dzg.2_Missense_Mutation_p.R464W|CCDC80_uc003dzh.1_Missense_Mutation_p.R464W NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 464 ovary(2) 2 CGGTTGTCCCGGAAACGGCCT 0.612 40 51 --- --- --- --- PASS PHC3 80012 broad.mit.edu 37 3 169824720 169824720 + Missense_Mutation SNP T C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:169824720T>C uc010hws.1 - 12 2396 c.2332A>G c.(2332-2334)ATG>GTG p.M778V PHC3_uc003fgl.2_Missense_Mutation_p.M790V|PHC3_uc011bpq.1_Missense_Mutation_p.M737V NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 778 FCS-type. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|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;0.0655) TCACTGTCCATTTCTTCTAAT 0.333 13 142 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183904012 183904012 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:183904012A>G uc003fmz.2 + 1 150 c.17A>G c.(16-18)GAA>GGA p.E6G ABCF3_uc003fna.2_Missense_Mutation_p.E6G|ABCF3_uc003fnb.2_5'Flank NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 6 ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACTTGCGCCGAAATCCTGCGG 0.647 13 142 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184580719 184580719 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr3:184580719G>C uc003fpb.1 + 15 1424 c.1253G>C c.(1252-1254)AGC>ACC p.S418T VPS8_uc010hyd.1_Missense_Mutation_p.S418T NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 420 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) CTCTTAGACAGCGTAGAGAAG 0.433 36 340 --- --- --- --- PASS LETM1 3954 broad.mit.edu 37 4 1821200 1821200 + Splice_Site SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr4:1821200C>A uc003gdv.2 - 11 1906 c.1609_splice c.e11-1 p.E537_splice NM_012318 NP_036450 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding central_nervous_system(1) 1 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) TCTCTTCCTCCTGGGATAAAA 0.522 30 77 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3240265 3240265 + Missense_Mutation SNP A C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr4:3240265A>C uc011bvq.1 + 66 9134 c.8989A>C c.(8989-8991)AAC>CAC p.N2997H NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 2995 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GGACATCATGAACAAAGTCAT 0.547 16 37 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42895454 42895454 + Missense_Mutation SNP T A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr4:42895454T>A uc003gwt.2 + 1 171 c.171T>A c.(169-171)GAT>GAA p.D57E NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 57 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 GACTAGGTGATTCCGATGGAC 0.502 124 98 --- --- --- --- PASS SPARCL1 8404 broad.mit.edu 37 4 88415203 88415203 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr4:88415203G>A uc010ikm.2 - 5 1321 c.749C>T c.(748-750)CCA>CTA p.P250L SPARCL1_uc011cdc.1_Missense_Mutation_p.P125L|SPARCL1_uc003hqs.3_Missense_Mutation_p.P250L|SPARCL1_uc011cdd.1_Missense_Mutation_p.P125L|SPARCL1_uc003hqt.2_Missense_Mutation_p.P250L NM_001128310 NP_001121782 Q14515 SPRL1_HUMAN SPARC-like 1 precursor 250 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TACTTGAGTTGGTTGATCAGA 0.418 148 250 --- --- --- --- PASS ABCG2 9429 broad.mit.edu 37 4 89052230 89052230 + Missense_Mutation SNP T G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr4:89052230T>G uc003hrg.2 - 5 1007 c.514A>C c.(514-516)AAA>CAA p.K172Q ABCG2_uc003hrh.2_Missense_Mutation_p.K172Q|ABCG2_uc003hrf.2_Missense_Mutation_p.K42Q NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 172 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) TCTGCCACTTTATCCAGACCT 0.403 68 171 --- --- --- --- PASS ARHGAP10 79658 broad.mit.edu 37 4 148653489 148653489 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr4:148653489C>A uc003ilf.2 + 1 37 c.37C>A c.(37-39)CTC>ATC p.L13I ARHGAP10_uc003ile.1_Missense_Mutation_p.L13I NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 13 BAR. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CGACTGCTACCTCGACAGCCC 0.657 9 25 --- --- --- --- PASS ARHGAP10 79658 broad.mit.edu 37 4 148968149 148968149 + Missense_Mutation SNP C G G rs149308358 TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr4:148968149C>G uc003ilf.2 + 20 1974 c.1974C>G c.(1972-1974)GAC>GAG p.D658E ARHGAP10_uc003ilg.2_Missense_Mutation_p.D307E|ARHGAP10_uc003ilh.2_Missense_Mutation_p.D239E|ARHGAP10_uc003ili.2_Missense_Mutation_p.D91E NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 658 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CTGGACCAGACAAAAACCACC 0.567 4 75 --- --- --- --- PASS RXFP1 59350 broad.mit.edu 37 4 159526275 159526275 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr4:159526275C>G uc003ipz.2 + 5 530 c.448C>G c.(448-450)CAT>GAT p.H150D RXFP1_uc010iqj.1_Translation_Start_Site|RXFP1_uc011cja.1_Missense_Mutation_p.H69D|RXFP1_uc010iqo.2_Missense_Mutation_p.H150D|RXFP1_uc011cjb.1_Missense_Mutation_p.H96D|RXFP1_uc010iqk.2_Translation_Start_Site|RXFP1_uc011cjc.1_Missense_Mutation_p.H69D|RXFP1_uc011cjd.1_Missense_Mutation_p.H69D|RXFP1_uc010iql.2_Translation_Start_Site|RXFP1_uc011cje.1_Missense_Mutation_p.H177D|RXFP1_uc010iqm.2_Missense_Mutation_p.H117D|RXFP1_uc011cjf.1_Missense_Mutation_p.H20D|RXFP1_uc010iqn.2_Missense_Mutation_p.H96D NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 150 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CAAGAATTATCATGATCTTCA 0.318 9 28 --- --- --- --- PASS SLC9A3 6550 broad.mit.edu 37 5 484769 484769 + Silent SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:484769C>A uc003jbe.2 - 5 910 c.798G>T c.(796-798)GTG>GTT p.V266V SLC9A3_uc011clx.1_Silent_p.V266V NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 266 Helical; Name=H/M6; (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) AGGCGAAGACCACCCCCACCA 0.632 45 37 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13867922 13867922 + Silent SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:13867922G>A uc003jfd.2 - 25 4056 c.4014C>T c.(4012-4014)TTC>TTT p.F1338F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1338 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) AATCTTGGAGGAATACCTCCA 0.453 Kartagener_syndrome 35 147 --- --- --- --- PASS ZNF622 90441 broad.mit.edu 37 5 16453235 16453235 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:16453235C>A uc003jfq.2 - 5 1313 c.1193G>T c.(1192-1194)AGA>ATA p.R398I NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 398 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 TTTGTAGTATCTCATCAAGGA 0.478 78 69 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33549326 33549326 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:33549326C>T uc003jia.1 - 21 4451 c.4288G>A c.(4288-4290)GAG>AAG p.E1430K ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1345K NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1430 TSP type-1 7. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CTCCAAGGCTCCACCTGCCAC 0.572 HNSCC(64;0.19) 11 114 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90015976 90015976 + Silent SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:90015976C>T uc003kju.2 + 44 9655 c.9559C>T c.(9559-9561)CTG>TTG p.L3187L GPR98_uc003kjt.2_Silent_p.L893L|GPR98_uc003kjv.2_Silent_p.L787L NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3187 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTTCAAACCCTGATAACAGT 0.398 85 30 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101816003 101816003 + Missense_Mutation SNP T C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:101816003T>C uc003knn.2 - 2 666 c.494A>G c.(493-495)TAT>TGT p.Y165C SLCO6A1_uc003kno.2_Missense_Mutation_p.Y165C|SLCO6A1_uc003knp.2_Missense_Mutation_p.Y165C|SLCO6A1_uc003knq.2_Missense_Mutation_p.Y165C NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 165 Helical; Name=2; (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) TCTGTCTCCATAGAATGCTAT 0.328 72 50 --- --- --- --- PASS PSD2 84249 broad.mit.edu 37 5 139217217 139217217 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:139217217A>G uc003leu.1 + 12 1878 c.1673A>G c.(1672-1674)TAC>TGC p.Y558C NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 558 PH. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGATGAGTACAGGCCTGAC 0.602 19 55 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140590009 140590009 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:140590009C>G uc003liz.2 + 1 1719 c.1530C>G c.(1528-1530)AAC>AAG p.N510K PCDHB12_uc011dak.1_Missense_Mutation_p.N173K NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 510 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGCGGACAACGGCCACCTGT 0.677 28 85 --- --- --- --- PASS CCDC69 26112 broad.mit.edu 37 5 150563006 150563006 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:150563006C>G uc003ltq.2 - 9 1006 c.883G>C c.(883-885)GCC>CCC p.A295P CCDC69_uc010jhu.2_Missense_Mutation_p.A148P|CCDC69_uc011dcq.1_RNA NM_015621 NP_056436 A6NI79 CCD69_HUMAN coiled-coil domain containing 69 295 ovary(2) 2 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCTATGTGGCGAGGAAAGAG 0.602 3 11 --- --- --- --- PASS SGCD 6444 broad.mit.edu 37 5 156184629 156184629 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:156184629C>A uc003lwd.3 + 7 1086 c.610C>A c.(610-612)CCA>ACA p.P204T SGCD_uc003lwb.2_Missense_Mutation_p.P205T|SGCD_uc003lwc.3_Missense_Mutation_p.P205T NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 204 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATGGAGGCCCCAAAAGGAGT 0.458 4 14 --- --- --- --- PASS OR2B3 442184 broad.mit.edu 37 6 29054387 29054387 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr6:29054387C>A uc003nlx.2 - 1 704 c.639G>T c.(637-639)TTG>TTT p.L213F NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 AGATGAGGATCAATGTCACTG 0.438 40 35 --- --- --- --- PASS LTA 4049 broad.mit.edu 37 6 31541077 31541077 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr6:31541077C>G uc011dnu.1 + 4 438 c.225C>G c.(223-225)AAC>AAG p.N75K LTA_uc003nue.1_Missense_Mutation_p.N75K|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Missense_Mutation_p.N22K|LTA_uc003nug.2_Missense_Mutation_p.N22K|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank NM_001159740 NP_001153212 P01374 TNFB_HUMAN lymphotoxin alpha precursor 75 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding 0 Etanercept(DB00005) GCAAGCAGAACTCACTGCTCT 0.567 8 39 --- --- --- --- PASS KIAA0240 23506 broad.mit.edu 37 6 42832465 42832465 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr6:42832465C>T uc003osn.1 + 13 2672 c.2521C>T c.(2521-2523)CGG>TGG p.R841W KIAA0240_uc011duw.1_Missense_Mutation_p.R841W|KIAA0240_uc003osp.1_Missense_Mutation_p.R841W NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 841 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) ACAGTTTGGCCGGAGTGACCA 0.502 32 138 --- --- --- --- PASS SLC29A1 2030 broad.mit.edu 37 6 44197764 44197764 + Silent SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr6:44197764C>A uc003owu.1 + 5 764 c.435C>A c.(433-435)ATC>ATA p.I145I SLC29A1_uc011dvp.1_Silent_p.I164I|SLC29A1_uc003owv.1_Silent_p.I145I|SLC29A1_uc003oww.1_Silent_p.I224I|SLC29A1_uc011dvq.1_Silent_p.I187I|SLC29A1_uc003owx.1_Silent_p.I145I|SLC29A1_uc003owy.1_Silent_p.I145I|SLC29A1_uc003owz.1_Silent_p.I145I NM_004955 NP_004946 Q99808 S29A1_HUMAN equilibrative nucleoside transporter 1 145 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding large_intestine(2)|skin(1) 3 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) TCACCATGATCAAGATCGTGC 0.557 39 46 --- --- --- --- PASS PREP 5550 broad.mit.edu 37 6 105821374 105821374 + Silent SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr6:105821374G>A uc003prc.2 - 5 668 c.465C>T c.(463-465)TTC>TTT p.F155F NM_002726 NP_002717 P48147 PPCE_HUMAN prolyl endopeptidase 155 proteolysis serine-type endopeptidase activity ovary(3) 3 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) CAACTTTCATGAACTTGATTG 0.468 31 38 --- --- --- --- PASS SLC22A16 85413 broad.mit.edu 37 6 110746145 110746145 + Silent SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr6:110746145G>A uc003puf.2 - 8 1732 c.1665C>T c.(1663-1665)CTC>CTT p.L555L SLC22A16_uc003pue.2_Silent_p.L536L NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 555 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) TATTAGTTGTGAGAAGTAATT 0.458 77 61 --- --- --- --- PASS TAAR6 319100 broad.mit.edu 37 6 132891506 132891506 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr6:132891506G>A uc011eck.1 + 1 46 c.46G>A c.(46-48)GCG>ACG p.A16T NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 16 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) GCTGTGCTACGCGAACGTGAA 0.483 14 68 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160450647 160450647 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr6:160450647C>T uc003qta.2 + 7 990 c.842C>T c.(841-843)GCG>GTG p.A281V NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 281 2.|Lumenal (Potential). 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) CACAGCCCTGCGGTGACTATT 0.512 15 25 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43436457 43436457 + Silent SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr7:43436457A>G uc003tid.1 + 7 1205 c.600A>G c.(598-600)GGA>GGG p.G200G HECW1_uc011kbi.1_Silent_p.G200G|HECW1_uc003tie.1_Silent_p.G232G NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 200 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AAGGACAAGGAAGTCGGAGGC 0.418 41 61 --- --- --- --- PASS BAZ1B 9031 broad.mit.edu 37 7 72891722 72891722 + Missense_Mutation SNP T A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr7:72891722T>A uc003tyc.2 - 7 2414 c.2069A>T c.(2068-2070)GAG>GTG p.E690V NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 690 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) CCGCACCAGCTCTGAAACAGA 0.473 62 67 --- --- --- --- PASS BAZ1B 9031 broad.mit.edu 37 7 72891723 72891723 + Nonsense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr7:72891723C>A uc003tyc.2 - 7 2413 c.2068G>T c.(2068-2070)GAG>TAG p.E690* NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 690 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) CGCACCAGCTCTGAAACAGAA 0.473 63 70 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98608731 98608731 + Silent SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr7:98608731C>G uc003upp.2 + 70 11162 c.10953C>G c.(10951-10953)CTC>CTG p.L3651L TRRAP_uc011kis.1_Silent_p.L3622L|TRRAP_uc003upr.2_Silent_p.L3357L|TRRAP_uc003ups.2_5'Flank NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3651 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) GCAGCATGCTCAAGGAGTGGG 0.572 18 53 --- --- --- --- PASS SPDYE3 441272 broad.mit.edu 37 7 99917242 99917242 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr7:99917242C>G uc003uug.1 + 4 510 c.270C>G c.(268-270)TTC>TTG p.F90L uc011kjm.1_5'Flank NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN speedy homolog E3 467 0 AAAAGATCTTCTACTTCCTGT 0.552 32 112 --- --- --- --- PASS LRRC17 10234 broad.mit.edu 37 7 102574465 102574465 + Silent SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr7:102574465G>C uc003vau.2 + 2 494 c.105G>C c.(103-105)GCG>GCC p.A35A FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Silent_p.A35A NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 isoform 1 35 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space ovary(1) 1 ATGGCCGGGCGGGTGGAGGCC 0.552 14 41 --- --- --- --- PASS MKLN1 4289 broad.mit.edu 37 7 131099445 131099445 + Nonsense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr7:131099445C>T uc011kpm.1 + 8 887 c.823C>T c.(823-825)CAG>TAG p.Q275* MKLN1_uc011kpl.1_Nonsense_Mutation_p.Q252*|MKLN1_uc010lmh.2_Nonsense_Mutation_p.Q275*|MKLN1_uc003vqs.2_Nonsense_Mutation_p.Q68* NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing 275 signal transduction cytoplasm protein binding breast(1) 1 Melanoma(18;0.162) AGGAGGCCATCAGATGGTTAT 0.418 9 15 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138546088 138546088 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr7:138546088C>T uc011kql.1 - 16 5093 c.5044G>A c.(5044-5046)GAG>AAG p.E1682K KIAA1549_uc011kqi.1_Missense_Mutation_p.E466K|KIAA1549_uc003vuk.3_Missense_Mutation_p.E1632K|KIAA1549_uc011kqj.1_Missense_Mutation_p.E1682K|KIAA1549_uc011kqk.1_Missense_Mutation_p.E466K NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1682 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 TGGCGTGCCTCCTCGATGGAC 0.682 O BRAF pilocytic astrocytoma 36 64 --- --- --- --- PASS PDIA4 9601 broad.mit.edu 37 7 148716172 148716172 + Silent SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr7:148716172G>A uc003wff.2 - 3 669 c.387C>T c.(385-387)GCC>GCT p.A129A NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 129 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CAAACCTGCTGGCCAGCACAG 0.498 38 26 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3263552 3263552 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr8:3263552C>T uc011kwk.1 - 15 2656 c.2266G>A c.(2266-2268)GAA>AAA p.E756K CSMD1_uc011kwj.1_Missense_Mutation_p.E148K NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 756 Sushi 4.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACTGCACCTTCACAGCGGGGC 0.498 19 21 --- --- --- --- PASS ZDHHC2 51201 broad.mit.edu 37 8 17053099 17053099 + Silent SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr8:17053099G>A uc003wxe.2 + 4 736 c.339G>A c.(337-339)AAG>AAA p.K113K NM_016353 NP_057437 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 113 integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) GAGCAGCCAAGGATCTTCCCA 0.423 6 58 --- --- --- --- PASS WRN 7486 broad.mit.edu 37 8 30916059 30916059 + Missense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr8:30916059G>T uc003xio.3 + 2 884 c.96G>T c.(94-96)AAG>AAT p.K32N NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 32 Interaction with WRNIP1 (By similarity). base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AAGAAAGAAAGGTATGTTGTT 0.338 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 12 9 --- --- --- --- PASS KCNU1 157855 broad.mit.edu 37 8 36662792 36662792 + Missense_Mutation SNP T A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr8:36662792T>A uc010lvw.2 + 4 544 c.457T>A c.(457-459)TTT>ATT p.F153I KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 153 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TAGTTTCTATTTTGGATTGAG 0.393 4 13 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77617287 77617287 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr8:77617287A>G uc003yav.2 + 2 1351 c.964A>G c.(964-966)ATA>GTA p.I322V ZFHX4_uc003yat.1_Missense_Mutation_p.I322V|ZFHX4_uc003yau.1_Missense_Mutation_p.I322V|ZFHX4_uc003yaw.1_Missense_Mutation_p.I322V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 322 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) CTCCGCCATAATACAGGGGAT 0.418 HNSCC(33;0.089) 61 49 --- --- --- --- PASS ST3GAL1 6482 broad.mit.edu 37 8 134488234 134488234 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr8:134488234G>C uc003yuk.2 - 5 863 c.34C>G c.(34-36)CTC>GTC p.L12V ST3GAL1_uc003yum.2_Missense_Mutation_p.L12V NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 12 Cytoplasmic (Potential). L -> V (in Ref. 2; AAA36612). 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) AGGAAGGTGAGCACTTTCAGG 0.562 9 59 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77377803 77377803 + Silent SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr9:77377803G>A uc004ajl.1 - 26 4022 c.3784C>T c.(3784-3786)CTA>TTA p.L1262L TRPM6_uc004ajk.1_Silent_p.L1257L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.L218L NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1262 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 ATGCTGCCTAGAACCTCTGCA 0.512 27 144 --- --- --- --- PASS PSAT1 29968 broad.mit.edu 37 9 80923366 80923366 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr9:80923366G>A uc004ala.2 + 6 675 c.607G>A c.(607-609)GGC>AGC p.G203S PSAT1_uc004alb.2_Missense_Mutation_p.G203S NM_058179 NP_478059 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 isoform 1 203 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) GAAGAATGTTGGCTCTGCTGG 0.493 18 76 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84606392 84606392 + Nonsense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr9:84606392C>A uc004amn.2 + 4 1054 c.1007C>A c.(1006-1008)TCA>TAA p.S336* NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 336 integral to membrane 0 TCTGGTGGGTCATCCACCTCT 0.478 42 143 --- --- --- --- PASS OR1N2 138882 broad.mit.edu 37 9 125316421 125316421 + Nonsense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr9:125316421G>T uc011lyx.1 + 1 973 c.973G>T c.(973-975)GGA>TGA p.G325* NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 325 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 TTTTGTCAGTGGAAAAACATT 0.388 12 47 --- --- --- --- PASS MCM10 55388 broad.mit.edu 37 10 13231032 13231032 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr10:13231032A>G uc001ima.2 + 10 1471 c.1370A>G c.(1369-1371)GAT>GGT p.D457G MCM10_uc001imb.2_Missense_Mutation_p.D456G|MCM10_uc001imc.2_Missense_Mutation_p.D456G NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 457 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 CTGTGCCAAGATGGCTTTTAC 0.512 32 97 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16967745 16967745 + Missense_Mutation SNP T G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr10:16967745T>G uc001ioo.2 - 42 6352 c.6300A>C c.(6298-6300)AGA>AGC p.R2100S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2100 CUB 15. 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) TGATGATCCCTCTGTCTGCAT 0.458 24 58 --- --- --- --- PASS MASTL 84930 broad.mit.edu 37 10 27444468 27444468 + Missense_Mutation SNP T A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr10:27444468T>A uc001itm.2 + 1 752 c.113T>A c.(112-114)GTG>GAG p.V38E YME1L1_uc001iti.2_5'Flank|YME1L1_uc001itj.2_5'Flank|YME1L1_uc010qdl.1_5'Flank|YME1L1_uc009xkv.2_5'Flank|YME1L1_uc001itk.1_5'Flank|MASTL_uc001itl.2_Missense_Mutation_p.V38E|MASTL_uc009xkw.1_Missense_Mutation_p.V38E|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 38 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 TTCAGCATAGTGAAGCCCATT 0.562 14 55 --- --- --- --- PASS PGBD3 267004 broad.mit.edu 37 10 50723771 50723771 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr10:50723771C>G uc001jht.2 - 2 1645 c.1390G>C c.(1390-1392)GAC>CAC p.D464H ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.D932H|PGBD3_uc001jhu.2_Missense_Mutation_p.D932H NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 464 pancreas(1)|breast(1)|skin(1) 3 TCAGCTCTGTCTACGCCTCCC 0.413 80 82 --- --- --- --- PASS MAT1A 4143 broad.mit.edu 37 10 82034380 82034380 + Silent SNP C T T rs149163315 TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr10:82034380C>T uc001kbw.2 - 8 1236 c.981G>A c.(979-981)CCG>CCA p.P327P NM_000429 NP_000420 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 327 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) AAATGGACAGCGGCTCGGCCA 0.572 21 42 --- --- --- --- PASS SFXN3 81855 broad.mit.edu 37 10 102795364 102795364 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr10:102795364G>A uc001ksp.2 + 4 740 c.284G>A c.(283-285)CGC>CAC p.R95H SFXN3_uc001ksq.2_Missense_Mutation_p.R95H|SFXN3_uc010qpx.1_Missense_Mutation_p.R95H NM_030971 NP_112233 Q9BWM7 SFXN3_HUMAN sideroflexin 3 95 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CTGATTGGCCGCATGTCAGCC 0.587 3 29 --- --- --- --- PASS CNNM2 54805 broad.mit.edu 37 10 104679152 104679152 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr10:104679152C>G uc001kwm.2 + 1 1039 c.915C>G c.(913-915)ATC>ATG p.I305M CNNM2_uc001kwn.2_Missense_Mutation_p.I305M|CNNM2_uc001kwl.2_Missense_Mutation_p.I305M NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 305 DUF21. ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCAAGCGCATCGAGCCGGTGC 0.637 19 17 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129914179 129914179 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr10:129914179C>G uc001lke.2 - 7 688 c.493G>C c.(493-495)GAC>CAC p.D165H MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 165 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCGGTACTGTCTTCTTTGACA 0.418 36 103 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1101629 1101629 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr11:1101629G>A uc001lsx.1 + 45 14755 c.14728G>A c.(14728-14730)GTG>ATG p.V4910M NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4910 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GAGCAAGATGGTGCCTGGAAG 0.632 8 76 --- --- --- --- PASS KRTAP5-5 439915 broad.mit.edu 37 11 1651423 1651423 + Missense_Mutation SNP G C C rs76164438 TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr11:1651423G>C uc001lty.2 + 1 391 c.353G>C c.(352-354)GGC>GCC p.G118A NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 118 8 X 4 AA repeats of C-C-X-P. Missing (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TCCAAGGGGGGCTGTGGCTCC 0.701 3 65 --- --- --- --- PASS CD81 975 broad.mit.edu 37 11 2415336 2415336 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr11:2415336C>G uc001lwf.1 + 3 426 c.193C>G c.(193-195)CTC>GTC p.L65V CD81_uc001lwg.1_Missense_Mutation_p.L58V|CD81_uc001lwh.1_5'Flank NM_004356 NP_004347 P60033 CD81_HUMAN CD81 antigen 65 Helical; (Potential). activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding 0 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) CATCTACATCCTCATCGCTGT 0.647 3 58 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 20057595 20057595 + Silent SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr11:20057595C>T uc010rdm.1 + 13 3289 c.2928C>T c.(2926-2928)AGC>AGT p.S976S NAV2_uc001mpp.2_Silent_p.S889S|NAV2_uc001mpr.3_Silent_p.S953S|NAV2_uc001mpt.2_Silent_p.S39S|NAV2_uc009yhx.2_Silent_p.S39S|NAV2_uc009yhy.1_5'UTR NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 976 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CCTCCATCAGCTCTTATGCCA 0.587 11 56 --- --- --- --- PASS PDHX 8050 broad.mit.edu 37 11 34988250 34988250 + Silent SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr11:34988250A>G uc001mvt.2 + 6 1231 c.705A>G c.(703-705)CCA>CCG p.P235P PDHX_uc010rep.1_Silent_p.P220P|PDHX_uc010req.1_Intron NM_003477 NP_003468 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 235 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity kidney(1) 1 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) GACCAACTCCAGCCCCCACAG 0.522 3 98 --- --- --- --- PASS ARHGAP1 392 broad.mit.edu 37 11 46709766 46709766 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr11:46709766G>C uc001ndd.2 - 4 343 c.274C>G c.(274-276)CGA>GGA p.R92G ARHGAP1_uc009yle.1_Missense_Mutation_p.R92G NM_004308 NP_004299 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 92 CRAL-TRIO. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity skin(1) 1 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) GGGGGCATTCGACAGGCACTA 0.547 6 32 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55658946 55658946 + Silent SNP G A A rs145711485 byFrequency TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr11:55658946G>A uc010rip.1 + 7 1289 c.1197G>A c.(1195-1197)GTG>GTA p.V399V SPRYD5_uc010riq.1_Silent_p.V256V NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 399 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) CACTTGTGGTGCAATATGTTC 0.448 33 55 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62300231 62300231 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr11:62300231G>A uc001ntl.2 - 5 1958 c.1658C>T c.(1657-1659)ACA>ATA p.T553I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 553 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCTAGGGCCTGTCAAGGTTCC 0.517 21 195 --- --- --- --- PASS NCAPD3 23310 broad.mit.edu 37 11 134037950 134037950 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr11:134037950C>G uc001qhd.1 - 27 4120 c.3514G>C c.(3514-3516)GAT>CAT p.D1172H NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.D122H NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1172 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GCCATGTCATCTTCTTCCATA 0.453 36 108 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9227264 9227264 + Silent SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr12:9227264A>G uc001qvk.1 - 29 3761 c.3648T>C c.(3646-3648)TAT>TAC p.Y1216Y A2M_uc001qvj.1_Silent_p.Y258Y|A2M_uc009zgk.1_Silent_p.Y1066Y NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1216 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GGGCCGTGAGATAAGCGAGGA 0.592 7 39 --- --- --- --- PASS NELL2 4753 broad.mit.edu 37 12 45000994 45000994 + Missense_Mutation SNP A C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr12:45000994A>C uc001rog.2 - 15 2216 c.1621T>G c.(1621-1623)TGT>GGT p.C541G NELL2_uc001rof.3_Missense_Mutation_p.C540G|NELL2_uc001roh.2_Missense_Mutation_p.C541G|NELL2_uc009zkd.2_Missense_Mutation_p.C540G|NELL2_uc010skz.1_Missense_Mutation_p.C591G|NELL2_uc010sla.1_Missense_Mutation_p.C564G|NELL2_uc001roi.1_Missense_Mutation_p.C541G|NELL2_uc010slb.1_Missense_Mutation_p.C540G NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 541 EGF-like 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GGGCAGGCACACACATTAGCG 0.383 7 35 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48391460 48391460 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr12:48391460C>G uc001rqu.2 - 7 641 c.460G>C c.(460-462)GAA>CAA p.E154Q COL2A1_uc001rqv.2_Missense_Mutation_p.E85Q NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 154 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GTCCCAGGTTCTCCATCTCTG 0.408 19 77 --- --- --- --- PASS CALCOCO1 57658 broad.mit.edu 37 12 54110074 54110074 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr12:54110074C>A uc001sef.2 - 8 1119 c.975G>T c.(973-975)AAG>AAT p.K325N CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Intron|CALCOCO1_uc010son.1_Missense_Mutation_p.K202N|CALCOCO1_uc001seh.2_Missense_Mutation_p.K325N|CALCOCO1_uc009znd.2_Missense_Mutation_p.K325N|CALCOCO1_uc001seg.2_Intron|CALCOCO1_uc010soo.1_Missense_Mutation_p.K318N NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 325 Potential. steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 CTAGGGTGTCCTTCATCTGGG 0.562 26 80 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78593181 78593181 + Silent SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr12:78593181A>G uc001syp.2 + 37 6758 c.6585A>G c.(6583-6585)AAA>AAG p.K2195K NAV3_uc001syo.2_Silent_p.K2173K|NAV3_uc010sub.1_Silent_p.K1652K|NAV3_uc009zsf.2_Silent_p.K1004K NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2195 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TTCGAAGAAAACTCATAGAGA 0.333 HNSCC(70;0.22) 51 67 --- --- --- --- PASS GAS2L3 283431 broad.mit.edu 37 12 101018492 101018492 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr12:101018492A>G uc001thu.2 + 10 2135 c.1909A>G c.(1909-1911)AAG>GAG p.K637E GAS2L3_uc009zty.2_Missense_Mutation_p.K637E|GAS2L3_uc001thv.2_Missense_Mutation_p.K533E NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 637 cell cycle arrest skin(1) 1 GACTGTCGCTAAGAGCCAGCA 0.512 6 88 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101768637 101768637 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr12:101768637G>C uc001tia.1 + 55 7339 c.7183G>C c.(7183-7185)GAA>CAA p.E2395Q NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2395 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TGTGGAAAGTGAAGGAGTTGA 0.388 30 171 --- --- --- --- PASS PTPN11 5781 broad.mit.edu 37 12 112893784 112893784 + Nonsense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr12:112893784G>T uc001ttx.2 + 6 1053 c.673G>T c.(673-675)GAA>TAA p.E225* PTPN11_uc001ttw.1_Nonsense_Mutation_p.E225* NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 225 axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 AAATGCTGCTGAAATAGAAAG 0.343 Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome 21 58 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124326030 124326030 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr12:124326030G>A uc001uft.3 + 29 4969 c.4944G>A c.(4942-4944)ATG>ATA p.M1648I NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1648 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGAATGAGATGAGAAGAACTA 0.463 74 38 --- --- --- --- PASS DHX37 57647 broad.mit.edu 37 12 125465138 125465138 + Silent SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr12:125465138A>G uc001ugy.2 - 4 735 c.636T>C c.(634-636)GCT>GCC p.A212A NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 212 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CAGTCATCCCAGCCGGCACGG 0.692 3 46 --- --- --- --- PASS SLC7A1 6541 broad.mit.edu 37 13 30096564 30096564 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr13:30096564C>T uc001uso.2 - 8 1466 c.1079G>A c.(1078-1080)CGG>CAG p.R360Q NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 360 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) ATAGATAACCCGAGGCATGGG 0.488 38 28 --- --- --- --- PASS UBL3 5412 broad.mit.edu 37 13 30423650 30423650 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr13:30423650A>G uc001usp.2 - 1 1171 c.26T>C c.(25-27)ATG>ACG p.M9T NM_007106 NP_009037 O95164 UBL3_HUMAN ubiquitin-like 3 precursor 9 intracellular|plasma membrane 0 Lung SC(185;0.0281) all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147) GTCACTTACCATATCCGCCGG 0.423 12 36 --- --- --- --- PASS COG6 57511 broad.mit.edu 37 13 40233518 40233518 + Silent SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr13:40233518C>G uc001uxh.2 + 2 271 c.171C>G c.(169-171)CTC>CTG p.L57L COG6_uc001uxi.2_Silent_p.L5L|COG6_uc010acb.2_Silent_p.L57L NM_020751 NP_065802 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 isoform 57 protein transport Golgi membrane|Golgi transport complex kidney(1)|skin(1) 2 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) TAGAAGCTCTCAAGGCACTTT 0.328 26 19 --- --- --- --- PASS TEP1 7011 broad.mit.edu 37 14 20848129 20848129 + Missense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr14:20848129G>T uc001vxe.2 - 35 5127 c.5087C>A c.(5086-5088)GCC>GAC p.A1696D TEP1_uc010ahk.2_Missense_Mutation_p.A1039D|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A1588D|TEP1_uc010tlh.1_Missense_Mutation_p.A34D NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1696 WD 2. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGTCCCATTGGCAGTGCCCAC 0.522 14 43 --- --- --- --- PASS TEP1 7011 broad.mit.edu 37 14 20848130 20848130 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr14:20848130C>A uc001vxe.2 - 35 5126 c.5086G>T c.(5086-5088)GCC>TCC p.A1696S TEP1_uc010ahk.2_Missense_Mutation_p.A1039S|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A1588S|TEP1_uc010tlh.1_Missense_Mutation_p.A34S NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1696 WD 2. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GTCCCATTGGCAGTGCCCACA 0.522 14 42 --- --- --- --- PASS EDDM3B 64184 broad.mit.edu 37 14 21238568 21238568 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr14:21238568G>C uc001vyd.2 + 2 357 c.259G>C c.(259-261)GAT>CAT p.D87H NM_022360 NP_071755 P56851 EP3B_HUMAN human epididymis-specific 3 beta precursor 87 spermatid development extracellular region ovary(1) 1 CAACTGGATGGATCGCTTCCG 0.413 31 25 --- --- --- --- PASS FLJ10357 55701 broad.mit.edu 37 14 21542304 21542304 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr14:21542304G>A uc001vzp.2 + 3 444 c.415G>A c.(415-417)GAG>AAG p.E139K FLJ10357_uc001vzn.1_Missense_Mutation_p.E139K|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 139 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) TGTGCCCAATGAGGCTTGTGC 0.617 26 53 --- --- --- --- PASS PTGER2 5732 broad.mit.edu 37 14 52794042 52794042 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr14:52794042C>T uc001wzr.2 + 2 1198 c.947C>T c.(946-948)GCC>GTC p.A316V NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 316 Helical; Name=7; (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) TGGGTCTTTGCCATCCTTAGG 0.403 4 99 --- --- --- --- PASS C14orf181 400223 broad.mit.edu 37 14 69262518 69262518 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr14:69262518G>C uc001xkj.1 - 1 673 c.494C>G c.(493-495)CCG>CGG p.P165R ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank NM_207442 NP_997325 hypothetical protein LOC400223 0 all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399) ACGTCATTTCGGGGACTTTCC 0.592 4 135 --- --- --- --- PASS ZFYVE1 53349 broad.mit.edu 37 14 73459962 73459962 + Silent SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr14:73459962A>G uc001xnm.2 - 4 1732 c.1092T>C c.(1090-1092)ACT>ACC p.T364T ZFYVE1_uc010arj.2_Silent_p.T364T NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 364 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GAGGGTTGTAAGTCCTCGTTC 0.562 26 70 --- --- --- --- PASS IFI27 3429 broad.mit.edu 37 14 94582193 94582193 + Silent SNP T C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr14:94582193T>C uc010tws.1 + 4 376 c.255T>C c.(253-255)CAT>CAC p.H85H IFI27_uc001ycn.1_RNA|IFI27_uc001yco.2_Missense_Mutation_p.I66T NM_005532 NP_005523 P40305 IFI27_HUMAN interferon, alpha-inducible protein 27 isoform Error:Variant_position_missing_in_P40305_after_alignment activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway integral to membrane|mitochondrion 0 Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206) TCGTCCTCCATAGCAGCCAAG 0.632 5 4 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106321137 106321137 + RNA SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr14:106321137G>A uc010tyt.1 - 3600 c.56014C>T uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron Parts of antibodies, mostly variable regions. 0 CCTCACCCACGGCGCTGAAAG 0.602 8 51 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28231737 28231737 + Missense_Mutation SNP A T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr15:28231737A>T uc001zbh.3 - 12 1345 c.1235T>A c.(1234-1236)GTA>GAA p.V412E OCA2_uc010ayv.2_Missense_Mutation_p.V388E NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 412 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ACCTACCTTTACAGCACAATA 0.289 Oculocutaneous_Albinism 35 164 --- --- --- --- PASS TRPM1 4308 broad.mit.edu 37 15 31325029 31325029 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr15:31325029G>A uc001zfm.2 - 21 2877 c.2749C>T c.(2749-2751)CGC>TGC p.R917C TRPM1_uc010azy.2_Missense_Mutation_p.R824C|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 917 Helical; (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTCTGTAGGCGAAGAATTGCT 0.478 45 116 --- --- --- --- PASS MAP1A 4130 broad.mit.edu 37 15 43818818 43818818 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr15:43818818G>A uc001zrt.2 + 4 5614 c.5147G>A c.(5146-5148)GGG>GAG p.G1716E NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1716 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GATGGCCAGGGGGCCCGCCCA 0.602 36 34 --- --- --- --- PASS TMOD3 29766 broad.mit.edu 37 15 52161438 52161438 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr15:52161438C>G uc002abm.2 + 3 370 c.151C>G c.(151-153)CGG>GGG p.R51G NM_014547 NP_055362 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 51 cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(1) 1 all cancers(107;0.00194) TGCAGGGTTCCGGCAGAAGAA 0.448 25 100 --- --- --- --- PASS ONECUT1 3175 broad.mit.edu 37 15 53081638 53081638 + Missense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr15:53081638G>T uc002aci.1 - 1 572 c.444C>A c.(442-444)AGC>AGA p.S148R NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 148 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) TGAGCGTGAAGCTACCGCTCA 0.493 9 84 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63111814 63111814 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr15:63111814A>G uc002alb.3 + 50 6871 c.6871A>G c.(6871-6873)ATG>GTG p.M2291V TLN2_uc002alc.3_Missense_Mutation_p.M684V|TLN2_uc010uic.1_5'Flank NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 2291 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GGCGGAAGCCATGAAAGGTAG 0.572 37 20 --- --- --- --- PASS TLE3 7090 broad.mit.edu 37 15 70351076 70351076 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr15:70351076C>G uc002asm.2 - 11 1963 c.844G>C c.(844-846)GAT>CAT p.D282H TLE3_uc002ask.2_Missense_Mutation_p.D226H|TLE3_uc002asl.2_Missense_Mutation_p.D287H|TLE3_uc010ukd.1_Missense_Mutation_p.D275H|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.D282H|TLE3_uc002asn.2_Missense_Mutation_p.D282H|TLE3_uc002asp.2_Missense_Mutation_p.D282H|TLE3_uc002aso.2_Missense_Mutation_p.D282H NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 282 Pro/Ser-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 GTGGGGGCATCTTTTTTCAGG 0.597 7 17 --- --- --- --- PASS ZNF774 342132 broad.mit.edu 37 15 90897929 90897929 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr15:90897929G>A uc002bpk.3 + 2 223 c.37G>A c.(37-39)GGA>AGA p.G13R NM_001004309 NP_001004309 Q6NX45 ZN774_HUMAN zinc finger protein 774 13 KRAB. 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) TGGGTTACCTGGACACTGCTT 0.448 8 27 --- --- --- --- PASS MAPK8IP3 23162 broad.mit.edu 37 16 1816271 1816271 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr16:1816271G>A uc002cmk.2 + 22 2797 c.2677G>A c.(2677-2679)GAG>AAG p.E893K MAPK8IP3_uc002cml.2_Missense_Mutation_p.E887K|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E894K NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 893 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CCAGTCCACAGAGGAGGCCAC 0.647 11 37 --- --- --- --- PASS TSC2 7249 broad.mit.edu 37 16 2126131 2126131 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr16:2126131G>A uc002con.2 + 24 2808 c.2702G>A c.(2701-2703)CGC>CAC p.R901H TSC2_uc010bsd.2_Missense_Mutation_p.R901H|TSC2_uc002coo.2_Missense_Mutation_p.R901H|TSC2_uc010uvv.1_Missense_Mutation_p.R864H|TSC2_uc010uvw.1_Missense_Mutation_p.R852H|TSC2_uc002cop.2_Missense_Mutation_p.R701H NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 901 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) ATCAGGTGCCGCCTGCCCTTC 0.572 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 20 59 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2158510 2158510 + Missense_Mutation SNP G A A rs145357945 TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr16:2158510G>A uc002cos.1 - 15 6867 c.6658C>T c.(6658-6660)CGG>TGG p.R2220W PKD1_uc002cot.1_Missense_Mutation_p.R2220W NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2220 Extracellular (Potential).|REJ. Missing (in ADPKD1). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 AGCGCCAGCCGCGGCAGCACC 0.697 14 8 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3823774 3823774 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr16:3823774G>A uc002cvv.2 - 13 2645 c.2441C>T c.(2440-2442)CCA>CTA p.P814L CREBBP_uc002cvw.2_Missense_Mutation_p.P776L NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 814 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGTTTGGGCTGGCGGCTGCCC 0.547 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 57 25 --- --- --- --- PASS ERN2 10595 broad.mit.edu 37 16 23702239 23702239 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr16:23702239C>G uc002dma.3 - 22 3007 c.2838G>C c.(2836-2838)AGG>AGC p.R946S ERN2_uc010bxp.2_Missense_Mutation_p.R894S NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 898 KEN.|Cytoplasmic (Potential). 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) AGGCGCAGCTCCTCATGGCTC 0.642 10 37 --- --- --- --- PASS MYLK3 91807 broad.mit.edu 37 16 46766205 46766205 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr16:46766205C>G uc002eei.3 - 4 1493 c.1377G>C c.(1375-1377)GAG>GAC p.E459D MYLK3_uc010vge.1_Missense_Mutation_p.E118D|MYLK3_uc002eej.1_Missense_Mutation_p.E118D NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 459 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CACAGTCCTGCTCAGGCTCAG 0.652 16 49 --- --- --- --- PASS MMP2 4313 broad.mit.edu 37 16 55519555 55519555 + Missense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr16:55519555G>T uc002ehz.3 + 5 1009 c.698G>T c.(697-699)TGC>TTC p.C233F MMP2_uc010vhd.1_Missense_Mutation_p.C157F|MMP2_uc010ccc.2_Missense_Mutation_p.C183F NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 233 Fibronectin type-II 1.|Collagen-binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GGGGAGTACTGCAAGTTCCCC 0.537 43 100 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76461469 76461469 + Nonsense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr16:76461469C>T uc002feu.1 + 6 896 c.511C>T c.(511-513)CGA>TGA p.R171* CNTNAP4_uc002fev.1_Nonsense_Mutation_p.R83*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.R146*|CNTNAP4_uc002fex.1_Nonsense_Mutation_p.R174*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.R146* NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 171 Extracellular (Potential).|F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 AATTGGAATGCGAATCGAAGT 0.408 14 39 --- --- --- --- PASS ITGAE 3682 broad.mit.edu 37 17 3680912 3680912 + Missense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:3680912G>T uc002fwo.3 - 2 176 c.77C>A c.(76-78)CCC>CAC p.P26H NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 26 FG-GAP 1.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CGTGAGCCAGGGCCGGGCCAC 0.602 18 65 --- --- --- --- PASS GPR172B 55065 broad.mit.edu 37 17 4936615 4936615 + Missense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:4936615G>T uc002gap.3 - 4 1788 c.1075C>A c.(1075-1077)CTG>ATG p.L359M GPR172B_uc002gao.3_Missense_Mutation_p.L359M|GPR172B_uc010ckw.2_Missense_Mutation_p.L237M|GPR172B_uc010ckx.2_Intron NM_001104577 NP_001098047 Q9NWF4 RFT_HUMAN G protein-coupled receptor 172B precursor 359 Helical; (Potential). integral to plasma membrane receptor activity|riboflavin transporter activity 0 AGGATTGCCAGTGCCATCAGG 0.627 37 74 --- --- --- --- PASS NEURL4 84461 broad.mit.edu 37 17 7227500 7227500 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:7227500G>C uc002gga.1 - 11 1996 c.1989C>G c.(1987-1989)AAC>AAG p.N663K NEURL4_uc002ggb.1_Missense_Mutation_p.N663K|NEURL4_uc002ggc.1_Missense_Mutation_p.N9K NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 663 NHR 3. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 CCGGGGGCACGTTCCAGGCAG 0.667 OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 123 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578416 7578416 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:7578416C>A uc002gim.2 - 5 708 c.514G>T c.(514-516)GTT>TTT p.V172F TP53_uc002gig.1_Missense_Mutation_p.V172F|TP53_uc002gih.2_Missense_Mutation_p.V172F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V40F|TP53_uc010cng.1_Missense_Mutation_p.V40F|TP53_uc002gii.1_Missense_Mutation_p.V40F|TP53_uc010cnh.1_Missense_Mutation_p.V172F|TP53_uc010cni.1_Missense_Mutation_p.V172F|TP53_uc002gij.2_Missense_Mutation_p.V172F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V79F|TP53_uc002gio.2_Missense_Mutation_p.V40F|TP53_uc010vug.1_Missense_Mutation_p.V133F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 172 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V172F(10)|p.V172D(8)|p.V172I(7)|p.0?(7)|p.V172V(4)|p.V172A(4)|p.V172fs*2(3)|p.V172G(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.E171fs*61(1)|p.V172_E180delVVRRCPHHE(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171_V172delEV(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGCCTCACAACCTCCGTCATG 0.662 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 36 --- --- --- --- PASS TRIM16L 147166 broad.mit.edu 37 17 18638551 18638551 + Silent SNP T C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:18638551T>C uc002gug.1 + 10 1512 c.825T>C c.(823-825)CCT>CCC p.P275P TRIM16L_uc010vyf.1_Silent_p.P329P|TRIM16L_uc002guh.1_Silent_p.P275P|TRIM16L_uc010cqg.1_Silent_p.P377P|TRIM16L_uc002gui.1_Silent_p.P275P|TRIM16L_uc010vyg.1_Silent_p.P275P|TRIM16L_uc010vyh.1_3'UTR NM_001037330 NP_001032407 Q309B1 TR16L_HUMAN tripartite motif-containing 16-like 275 B30.2/SPRY. cytoplasm 0 AAGCTGGCCCTTTCTGGAGGC 0.522 17 84 --- --- --- --- PASS SSH2 85464 broad.mit.edu 37 17 27958769 27958769 + Missense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:27958769G>T uc002heo.1 - 15 3362 c.3362C>A c.(3361-3363)ACA>AAA p.T1121K SSH2_uc010wbh.1_Missense_Mutation_p.T1148K NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 1121 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 TAAATGGGTTGTATGACTGAC 0.542 25 72 --- --- --- --- PASS CPD 1362 broad.mit.edu 37 17 28750565 28750565 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:28750565G>C uc002hfb.1 + 6 1714 c.1699G>C c.(1699-1701)GAA>CAA p.E567Q CPD_uc010wbo.1_Missense_Mutation_p.E320Q|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 567 Extracellular (Potential).|Carboxypeptidase-like 2. Zinc 2 (By similarity). proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 GCATGGAAATGAAGTGGTTGG 0.358 35 26 --- --- --- --- PASS PLXDC1 57125 broad.mit.edu 37 17 37228713 37228713 + Silent SNP T G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:37228713T>G uc002hrg.2 - 12 1424 c.1212A>C c.(1210-1212)GCA>GCC p.A404A uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Intron|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 404 Extracellular (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 CGTCTCCTCCTGCATAGGGAT 0.527 5 8 --- --- --- --- PASS PGAP3 93210 broad.mit.edu 37 17 37842247 37842247 + Silent SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:37842247C>T uc002hsj.2 - 2 250 c.207G>A c.(205-207)AAG>AAA p.K69K ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010cvy.2_5'Flank|PGAP3_uc010wej.1_Silent_p.K69K|PGAP3_uc002hsk.2_Silent_p.K69K|PGAP3_uc010cvz.2_Silent_p.K69K|ERBB2_uc002hsl.2_5'Flank NM_033419 NP_219487 Q96FM1 PGAP3_HUMAN per1-like domain containing 1 precursor 69 Lumenal (Potential). GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds upper_aerodigestive_tract(1) 1 TACACTCATACTTACAGTCGT 0.542 13 63 --- --- --- --- PASS KRT32 3882 broad.mit.edu 37 17 39619203 39619203 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:39619203C>T uc002hwr.2 - 6 1157 c.1096G>A c.(1096-1098)GCT>ACT p.A366T NM_002278 NP_002269 Q14532 K1H2_HUMAN keratin 32 366 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000812) CGGATCTCAGCCAGCTGGGCC 0.647 15 163 --- --- --- --- PASS GFAP 2670 broad.mit.edu 37 17 42992539 42992539 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:42992539C>A uc002ihq.2 - 1 376 c.316G>T c.(316-318)GCC>TCC p.A106S GFAP_uc002ihr.2_Missense_Mutation_p.A106S|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 106 Linker 1.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) GGCTCCTTGGCCCGCAGCTGG 0.617 20 134 --- --- --- --- PASS GFAP 2670 broad.mit.edu 37 17 42992540 42992540 + Silent SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:42992540C>G uc002ihq.2 - 1 375 c.315G>C c.(313-315)CGG>CGC p.R105R GFAP_uc002ihr.2_Silent_p.R105R|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 105 Linker 1.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) GCTCCTTGGCCCGCAGCTGGT 0.617 20 136 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51902198 51902198 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:51902198C>T uc002iua.2 + 1 1960 c.1804C>T c.(1804-1806)CCC>TCC p.P602S uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 602 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TGAAACATTACCCACTCTGTT 0.423 62 134 --- --- --- --- PASS LPO 4025 broad.mit.edu 37 17 56329601 56329601 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:56329601C>G uc002ivt.2 + 8 1155 c.839C>G c.(838-840)GCT>GGT p.A280G LPO_uc010wns.1_Missense_Mutation_p.A221G|LPO_uc010dcp.2_Missense_Mutation_p.A197G|LPO_uc010dcq.2_Intron|LPO_uc010dcr.2_5'UTR NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 280 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 TTCTTCCGAGCTGGGTTCGTC 0.592 17 81 --- --- --- --- PASS MRC2 9902 broad.mit.edu 37 17 60759627 60759627 + Silent SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:60759627C>A uc002jad.2 + 20 3237 c.2835C>A c.(2833-2835)GCC>GCA p.A945A MRC2_uc002jae.2_Silent_p.A16A|MRC2_uc002jaf.2_5'UTR NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 945 Extracellular (Potential).|C-type lectin 5. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 GCCTGACAGCCTTGCCCTACA 0.562 19 8 --- --- --- --- PASS GH2 2689 broad.mit.edu 37 17 61958797 61958797 + Silent SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:61958797G>A uc002jco.1 - 2 155 c.93C>T c.(91-93)CCC>CCT p.P31P GH2_uc002jcj.2_Silent_p.P31P|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.P31P|GH2_uc002jcm.1_Silent_p.P31P|GH2_uc002jcn.1_Silent_p.P31P NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 31 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 GCCTGGATAAGGGAATGGTTG 0.582 39 290 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65850532 65850532 + Silent SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:65850532C>T uc002jgf.2 + 2 1151 c.1090C>T c.(1090-1092)CTA>TTA p.L364L BPTF_uc002jge.2_Silent_p.L364L|BPTF_uc010wqm.1_Silent_p.L364L NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 364 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) GATCAAAGTTCTACAGTTTCT 0.433 31 157 --- --- --- --- PASS CD300C 10871 broad.mit.edu 37 17 72539080 72539080 + Silent SNP T A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:72539080T>A uc002jky.1 - 3 808 c.447A>T c.(445-447)TCA>TCT p.S149S NM_006678 NP_006669 Q08708 CLM6_HUMAN CD300C antigen precursor 149 Pro-rich.|Extracellular (Potential). cellular defense response integral to plasma membrane transmembrane receptor activity 0 TGGGAGGACCTGAGGTGCCCA 0.632 21 138 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78317711 78317711 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr17:78317711A>G uc002jyh.1 + 3 680 c.457A>G c.(457-459)ATG>GTG p.M153V NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_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) ACAATACTTAATGGATATAAA 0.458 35 204 --- --- --- --- PASS SMCHD1 23347 broad.mit.edu 37 18 2656159 2656159 + Missense_Mutation SNP T A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr18:2656159T>A uc002klm.3 + 1 274 c.85T>A c.(85-87)TAC>AAC p.Y29N NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 29 chromosome organization ATP binding 0 CAGGACGGTGTACTTGTTTGA 0.667 11 6 --- --- --- --- PASS C18orf34 374864 broad.mit.edu 37 18 30926220 30926220 + Missense_Mutation SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr18:30926220A>G uc002kxn.2 - 8 755 c.613T>C c.(613-615)TGG>CGG p.W205R C18orf34_uc010xbr.1_Missense_Mutation_p.W205R|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.W205R|C18orf34_uc002kxp.2_Missense_Mutation_p.W205R NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 205 ovary(1) 1 CAGACTGACCAAGAGTCAATT 0.368 40 35 --- --- --- --- PASS SLC14A2 8170 broad.mit.edu 37 18 43204660 43204660 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr18:43204660C>A uc010dnj.2 + 3 352 c.31C>A c.(31-33)CCA>ACA p.P11T SLC14A2_uc002lbb.2_Missense_Mutation_p.P11T|SLC14A2_uc002lbe.2_Missense_Mutation_p.P11T NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 11 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TCCTCTCCTGCCAGAGCCACT 0.567 31 37 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10610487 10610487 + Nonsense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:10610487G>A uc002moq.1 - 2 379 c.223C>T c.(223-225)CAG>TAG p.Q75* KEAP1_uc002mor.1_Nonsense_Mutation_p.Q75* NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TCACACAGCTGCTGGCTGAGC 0.607 38 33 --- --- --- --- PASS RAB3D 9545 broad.mit.edu 37 19 11446165 11446165 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:11446165C>A uc002mqy.2 - 4 668 c.430G>T c.(430-432)GTT>TTT p.V144F NM_004283 NP_004274 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 144 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(2) 2 GCAGGCACAACACGTTCGTCC 0.617 13 24 --- --- --- --- PASS AP1M1 8907 broad.mit.edu 37 19 16318920 16318920 + Missense_Mutation SNP T C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:16318920T>C uc002ndu.2 + 4 531 c.358T>C c.(358-360)TTC>CTC p.F120L AP1M1_uc002ndv.2_Missense_Mutation_p.F120L|AP1M1_uc010xpd.1_Missense_Mutation_p.F120L NM_032493 NP_115882 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 120 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding ovary(3)|breast(1) 4 GCTCATGGACTTCGGCTACCC 0.602 44 43 --- --- --- --- PASS ZNF254 9534 broad.mit.edu 37 19 24288805 24288805 + Missense_Mutation SNP A T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:24288805A>T uc002nru.2 + 2 228 c.94A>T c.(94-96)ATT>TTT p.I32F ZNF254_uc010xrk.1_Intron|ZNF254_uc002nrt.1_RNA NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 32 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ACACCTGGACATTGCACAGCA 0.403 39 144 --- --- --- --- PASS ZNF585B 92285 broad.mit.edu 37 19 37678108 37678108 + Missense_Mutation SNP T C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:37678108T>C uc002ofq.2 - 5 585 c.331A>G c.(331-333)ATC>GTC p.I111V ZNF585B_uc002ofr.1_5'UTR NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 111 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) TTATAACCGATGATTTTTCTA 0.353 22 86 --- --- --- --- PASS HIPK4 147746 broad.mit.edu 37 19 40885636 40885636 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:40885636C>A uc002onp.2 - 4 1994 c.1709G>T c.(1708-1710)GGA>GTA p.G570V NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 570 cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CAGCCATTCTCCAGGACAGCT 0.647 7 39 --- --- --- --- PASS ZNF285 26974 broad.mit.edu 37 19 44891507 44891507 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:44891507G>C uc002ozd.3 - 4 987 c.900C>G c.(898-900)AGC>AGG p.S300R ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.S307R NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 GAAGGTCTGAGCTCTGTTTGC 0.468 74 151 --- --- --- --- PASS PRKD2 25865 broad.mit.edu 37 19 47200993 47200993 + Silent SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:47200993C>G uc002pfh.2 - 9 1578 c.1236G>C c.(1234-1236)ACG>ACC p.T412T PRKD2_uc002pfe.2_5'Flank|PRKD2_uc002pff.2_5'Flank|PRKD2_uc002pfg.2_Silent_p.T255T|PRKD2_uc002pfi.2_Silent_p.T412T|PRKD2_uc002pfj.2_Silent_p.T412T|PRKD2_uc010xye.1_Silent_p.T412T|PRKD2_uc002pfk.2_Silent_p.T255T NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 412 PH. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) cACTCACCAGCGTGTCCTTGT 0.323 27 78 --- --- --- --- PASS PNKP 11284 broad.mit.edu 37 19 50370414 50370414 + Silent SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:50370414A>G uc002pqh.2 - 1 100 c.48T>C c.(46-48)CCT>CCC p.P16P PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.P16P|PNKP_uc010enm.2_Silent_p.P16P|PNKP_uc002pqk.2_Silent_p.P16P NM_007254 NP_009185 Q96T60 PNKP_HUMAN polynucleotide kinase 3' phosphatase 16 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding ovary(1)|kidney(1) 2 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;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GCGCTCCCCCAGGGGGGCTCT 0.721 Other_BER_factors 7 29 --- --- --- --- PASS NUP62 23636 broad.mit.edu 37 19 50412728 50412728 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:50412728C>G uc002pqx.2 - 2 441 c.337G>C c.(337-339)GGC>CGC p.G113R IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.G113R|NUP62_uc002pqz.2_Missense_Mutation_p.G113R|NUP62_uc002pra.2_Missense_Mutation_p.G113R|NUP62_uc002prb.2_Missense_Mutation_p.G113R|NUP62_uc002prc.2_Missense_Mutation_p.G113R NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 113 15 X 9 AA approximate repeats.|Thr-rich.|8. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AGCCCAAAGCCGCTGGGGTTT 0.592 108 40 --- --- --- --- PASS DEFB127 140850 broad.mit.edu 37 20 139433 139433 + Missense_Mutation SNP A T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr20:139433A>T uc002wcy.1 + 2 68 c.68A>T c.(67-69)AAG>ATG p.K23M NM_139074 NP_620713 Q9H1M4 DB127_HUMAN defensin, beta 127 preproprotein 23 defense response to bacterium|innate immune response extracellular region 0 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) CAACTTAAGAAGTGCTGGAAT 0.418 3 29 --- --- --- --- PASS HCK 3055 broad.mit.edu 37 20 30674582 30674582 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr20:30674582C>G uc002wxh.2 + 9 1158 c.987C>G c.(985-987)ATC>ATG p.I329M HCK_uc010gdy.2_Missense_Mutation_p.I308M|HCK_uc002wxi.2_Missense_Mutation_p.I307M NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 329 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGGAGCCCATCTACATCATCA 0.587 17 56 --- --- --- --- PASS LPIN3 64900 broad.mit.edu 37 20 39978997 39978997 + Silent SNP A T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr20:39978997A>T uc002xjx.2 + 7 1153 c.1062A>T c.(1060-1062)CCA>CCT p.P354P LPIN3_uc010ggh.2_Silent_p.P355P|LPIN3_uc010zwf.1_RNA NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN lipin 3 354 fatty acid metabolic process nucleus phosphatidate phosphatase activity ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(115;0.000739) TGGAGGTTCCAGTTCCCACCG 0.642 9 23 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40043905 40043905 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr20:40043905C>A uc002xka.1 - 34 7038 c.6860G>T c.(6859-6861)CGG>CTG p.R2287L CHD6_uc002xjz.1_5'Flank NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2287 Poly-Arg. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CCTCCCTCTCCGCCTCCTCGT 0.517 54 106 --- --- --- --- PASS CSE1L 1434 broad.mit.edu 37 20 47683023 47683023 + Missense_Mutation SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr20:47683023G>A uc002xty.2 + 5 586 c.452G>A c.(451-453)CGT>CAT p.R151H CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Missense_Mutation_p.R151H NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 151 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) GGAGTCCTCCGTACAGCACAT 0.343 3 58 --- --- --- --- PASS ZNF512B 57473 broad.mit.edu 37 20 62598349 62598349 + Silent SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr20:62598349C>A uc002yhl.1 - 4 327 c.273G>T c.(271-273)CTG>CTT p.L91L NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 91 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) AGTCGTTCATCAGGGAGAGCT 0.637 13 96 --- --- --- --- PASS DOPEY2 9980 broad.mit.edu 37 21 37618877 37618877 + Silent SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr21:37618877C>G uc002yvg.2 + 19 4678 c.4599C>G c.(4597-4599)TCC>TCG p.S1533S DOPEY2_uc011aeb.1_Silent_p.S1482S|DOPEY2_uc002yvh.2_Silent_p.S384S NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1533 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TCGGAAAGTCCCTGGGCTGGA 0.552 39 57 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23264868 23264868 + RNA SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr22:23264868C>A uc011aim.1 + 379 c.16689C>A Parts of antibodies, mostly variable regions. 0 GACTTCTACCCGGGAGCCGTG 0.597 6 37 --- --- --- --- PASS MTMR3 8897 broad.mit.edu 37 22 30415746 30415746 + Nonsense_Mutation SNP G T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr22:30415746G>T uc003agv.3 + 17 2426 c.2098G>T c.(2098-2100)GAG>TAG p.E700* MTMR3_uc003agu.3_Nonsense_Mutation_p.E700*|MTMR3_uc003agw.3_Nonsense_Mutation_p.E700* NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 700 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) CACCAAAGAGGAGAGTGGAGT 0.577 38 81 --- --- --- --- PASS PES1 23481 broad.mit.edu 37 22 30977576 30977576 + Missense_Mutation SNP G C C rs142214789 by1000genomes TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr22:30977576G>C uc003aij.1 - 7 760 c.686C>G c.(685-687)ACG>AGG p.T229R PES1_uc003aik.1_Missense_Mutation_p.T229R|PES1_uc003ail.1_Missense_Mutation_p.T212R|PES1_uc003aim.1_Missense_Mutation_p.T229R|PES1_uc003ain.1_Missense_Mutation_p.T90R|PES1_uc003aio.1_Missense_Mutation_p.T90R NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 229 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 GCCCAGCAGCGTGGTGTAGAA 0.597 4 39 --- --- --- --- PASS SFI1 9814 broad.mit.edu 37 22 32009832 32009832 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr22:32009832C>G uc003ale.2 + 27 3380 c.2987C>G c.(2986-2988)GCC>GGC p.A996G SFI1_uc003alf.2_Missense_Mutation_p.A965G|SFI1_uc003alg.2_Missense_Mutation_p.A914G|SFI1_uc011alp.1_Missense_Mutation_p.A902G|SFI1_uc011alq.1_Missense_Mutation_p.A941G|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_5'Flank|SFI1_uc003alj.2_5'Flank NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 996 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 GAGCCCCACGCCCTGGAGCTG 0.637 OREG0003527 type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 32 --- --- --- --- PASS RASD2 23551 broad.mit.edu 37 22 35942906 35942906 + Missense_Mutation SNP A C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr22:35942906A>C uc003anx.2 + 2 255 c.50A>C c.(49-51)AAA>ACA p.K17T RASD2_uc003any.2_Missense_Mutation_p.K17T NM_014310 NP_055125 Q96D21 RHES_HUMAN RASD family, member 2 precursor 17 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity lung(2)|skin(1) 3 GTGCCCGCCAAAAACTCATAC 0.607 6 16 --- --- --- --- PASS MGAT3 4248 broad.mit.edu 37 22 39883552 39883552 + Missense_Mutation SNP C T T rs62230587 TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr22:39883552C>T uc003axv.3 + 2 439 c.200C>T c.(199-201)CCT>CTT p.P67L MGAT3_uc010gxy.2_Missense_Mutation_p.P67L NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 67 Lumenal (Potential).|Pro-rich. post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) CCAGGAGGCCCTGACCTGCTG 0.682 20 88 --- --- --- --- PASS NAGA 4668 broad.mit.edu 37 22 42463813 42463813 + Missense_Mutation SNP C T T rs73167107 byFrequency TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr22:42463813C>T uc003bbx.2 - 4 417 c.280G>A c.(280-282)GAT>AAT p.D94N NAGA_uc003bby.2_Missense_Mutation_p.D94N|NAGA_uc003bbw.3_Missense_Mutation_p.D94N NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 94 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 CGCTTGGGATCCGGCATCAGG 0.617 27 137 --- --- --- --- PASS SMC1B 27127 broad.mit.edu 37 22 45795100 45795100 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr22:45795100C>G uc003bgc.2 - 6 1040 c.988G>C c.(988-990)GAA>CAA p.E330Q SMC1B_uc003bgd.2_Missense_Mutation_p.E330Q|SMC1B_uc003bge.1_Missense_Mutation_p.E113Q NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 330 Potential. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ATATCATCTTCCTGTTTAGAA 0.363 30 132 --- --- --- --- PASS CERK 64781 broad.mit.edu 37 22 47089354 47089354 + Nonsense_Mutation SNP T A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr22:47089354T>A uc003bia.2 - 10 1203 c.1096A>T c.(1096-1098)AAG>TAG p.K366* CERK_uc010hae.2_Nonsense_Mutation_p.K168* NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 366 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding skin(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGTGCTTTCTTCTGCTCCTCC 0.488 22 104 --- --- --- --- PASS CXorf23 256643 broad.mit.edu 37 X 19968911 19968911 + Missense_Mutation SNP C T T TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chrX:19968911C>T uc004czp.2 - 7 1705 c.1705G>A c.(1705-1707)GAA>AAA p.E569K CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.E134K|CXorf23_uc004czo.2_Missense_Mutation_p.E519K NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 569 mitochondrion lung(1)|skin(1) 2 TGCTCATCTTCATTCTGTAAC 0.373 27 54 --- --- --- --- PASS SLC38A5 92745 broad.mit.edu 37 X 48318223 48318223 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chrX:48318223C>G uc010nid.2 - 15 1286 c.1108G>C c.(1108-1110)GCC>CCC p.A370P SLC38A5_uc004djk.3_Missense_Mutation_p.A319P NM_033518 NP_277053 Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 370 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane ovary(3) 3 CAGCTGAAGGCCTTGCCTGGG 0.577 16 12 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50051612 50051612 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chrX:50051612C>G uc004dox.3 + 6 741 c.443C>G c.(442-444)ACT>AGT p.T148S CCNB3_uc004doy.2_Missense_Mutation_p.T148S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 148 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) ACACCCAACACTGAGGAGGCA 0.418 22 15 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53578078 53578078 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chrX:53578078C>A uc004dsp.2 - 65 9571 c.9169G>T c.(9169-9171)GAC>TAC p.D3057Y HUWE1_uc004dsn.2_Missense_Mutation_p.D1865Y NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3057 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GTCACAGGGTCCATAGGGGTG 0.547 18 13 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65420453 65420453 + Missense_Mutation SNP C A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chrX:65420453C>A uc011moz.1 + 12 2005 c.1945C>A c.(1945-1947)CTG>ATG p.L649M HEPH_uc004dwn.2_Missense_Mutation_p.L649M|HEPH_uc004dwo.2_Missense_Mutation_p.L379M|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.L649M|HEPH_uc010nks.2_5'Flank NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 646 Plastocyanin-like 4.|Extracellular (Potential). cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GGCCTGGCACCTGCTCGGCCT 0.542 6 15 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118230627 118230627 + Missense_Mutation SNP C G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chrX:118230627C>G uc004era.3 - 8 1096 c.1096G>C c.(1096-1098)GAT>CAT p.D366H NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 366 ovary(4)|skin(1) 5 TGTGAGCAATCAGGTCCAGAT 0.512 16 8 --- --- --- --- PASS THOC2 57187 broad.mit.edu 37 X 122846737 122846737 + Silent SNP G A A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chrX:122846737G>A uc004etu.2 - 2 125 c.93C>T c.(91-93)CTC>CTT p.L31L THOC2_uc011mui.1_5'UTR NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 31 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TATTTTCACTGAGGATCCGAC 0.269 13 28 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123657279 123657279 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chrX:123657279G>C uc004euj.2 - 17 3032 c.2968C>G c.(2968-2970)CCT>GCT p.P990A ODZ1_uc011muj.1_Missense_Mutation_p.P989A|ODZ1_uc010nqy.2_Missense_Mutation_p.P990A NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 990 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AGCGGTGAAGGAAGCACAATA 0.448 37 59 --- --- --- --- PASS ELF4 2000 broad.mit.edu 37 X 129205107 129205107 + Missense_Mutation SNP G C C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chrX:129205107G>C uc004evd.3 - 7 1102 c.717C>G c.(715-717)TTC>TTG p.F239L ELF4_uc004eve.3_Missense_Mutation_p.F239L NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 239 ETS. natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCACCAGTTTGAAGATGCCTT 0.522 T ERG AML 55 97 --- --- --- --- PASS UTY 7404 broad.mit.edu 37 Y 15448075 15448075 + Silent SNP A G G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chrY:15448075A>G uc004fsx.1 - 16 2916 c.1911T>C c.(1909-1911)AAT>AAC p.N637N UTY_uc004fsw.1_Silent_p.N300N|UTY_uc010nwx.1_Intron|UTY_uc004fsy.2_Silent_p.N637N|UTY_uc004fsz.2_Silent_p.N637N NM_007125 NP_009056 O14607 UTY_HUMAN tetratricopeptide repeat protein isoform 3 637 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GTGGTACTGAATTACTAGGCA 0.473 58 79 --- --- --- --- PASS PRKCE 5581 broad.mit.edu 37 2 46237534 46237534 + Frame_Shift_Del DEL T - - TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr2:46237534delT uc002rut.2 + 10 1512 c.1315delT c.(1315-1317)TTAfs p.L439fs NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 439 Protein kinase. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) TGTGAAGGTCTTAAAGAAGGA 0.443 106 58 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950724 79950725 + In_Frame_Ins INS - CCGCAGCGC CCGCAGCGC rs2001675 TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr5:79950724_79950725insCCGCAGCGC uc003kgz.2 + 1 431_432 c.178_179insCCGCAGCGC c.(178-180)GCC>GCCGCAGCGCCC p.63_64insAAP DHFR_uc011ctl.1_5'Flank|DHFR_uc011ctm.1_5'Flank|DHFR_uc010jap.1_5'Flank|DHFR_uc003kgx.1_Intron|DHFR_uc003kgy.1_5'UTR NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 63_64 Missing. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ggccgcagcggccgcagcgCCC 0.569 MMR 5 6 --- --- --- --- SF4 57794 broad.mit.edu 37 19 19389509 19389509 + Frame_Shift_Del DEL T - - TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr19:19389509delT uc002nmh.2 - 11 1627 c.1625delA c.(1624-1626)AAGfs p.K542fs SF4_uc002nmf.2_Frame_Shift_Del_p.K92fs|SF4_uc002nmg.2_Frame_Shift_Del_p.K92fs|SF4_uc002nmi.2_Frame_Shift_Del_p.K332fs|SF4_uc002nmj.2_Frame_Shift_Del_p.K332fs|SF4_uc002nme.2_Frame_Shift_Del_p.K92fs NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 542 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 CTTCAGGGCCTTGAAGGTCTC 0.612 14 8 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445798 29445820 + Frame_Shift_Del DEL GGCCGACTGCCCAGGCAGCGACA - - TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 767a9ae0-2aa4-467b-b9c3-fb3bf701b642 93bbc78d-d792-4bfe-a8b1-d7db55452cd9 g.chr22:29445798_29445820delGGCCGACTGCCCAGGCAGCGACA uc003aeg.2 + 8 1494_1516 c.1329_1351delGGCCGACTGCCCAGGCAGCGACA c.(1327-1353)CTGGCCGACTGCCCAGGCAGCGACAGCfs p.L443fs ZNRF3_uc003aeh.1_Frame_Shift_Del_p.L443fs NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 543_551 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 GTGGCTACCTGGCCGACTGCCCAGgcagcgacagcagcagcag 0.587 33 19 --- --- --- ---