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 PADI2 11240 broad.mit.edu 37 1 17422416 17422416 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:17422416G>T uc001baf.2 - 4 481 c.399C>A c.(397-399)AAC>AAA p.N133K PADI2_uc010ocm.1_Missense_Mutation_p.N133K|PADI2_uc001bag.1_Missense_Mutation_p.N133K NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 133 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TCTTTGGGTTGTTCTTCTCCA 0.602 74 103 --- --- --- --- PASS CLCA2 9635 broad.mit.edu 37 1 86905984 86905984 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:86905984C>A uc001dlr.3 + 8 1519 c.1357C>A c.(1357-1359)CTG>ATG p.L453M NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 453 VWFA.|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) AGCCCCAAATCTGGAGGAATT 0.423 5 66 --- --- --- --- PASS LPPR5 163404 broad.mit.edu 37 1 99470041 99470041 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:99470041C>A uc001dsb.2 - 1 409 c.187G>T c.(187-189)GTG>TTG p.V63L uc001dsd.1_RNA|LPPR5_uc001dsc.2_Missense_Mutation_p.V63L NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 63 Helical; (Potential). integral to membrane hydrolase activity 0 ACGGGGGGCACGGCGCTGCTG 0.697 13 28 --- --- --- --- PASS SYCP1 6847 broad.mit.edu 37 1 115420804 115420804 + Missense_Mutation SNP T A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:115420804T>A uc001efr.2 + 12 1100 c.891T>A c.(889-891)AAT>AAA p.N297K SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.N297K|SYCP1_uc009wgw.2_Missense_Mutation_p.N297K NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 297 Potential. cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAAAGTTAATCAATTAGAGG 0.269 8 73 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152278012 152278012 + Missense_Mutation SNP C A A rs112911439 TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:152278012C>A uc001ezu.1 - 3 9386 c.9350G>T c.(9349-9351)AGC>ATC p.S3117I NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3117 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTCCTCTGCTTGACCCCGG 0.582 Ichthyosis 195 138 --- --- --- --- PASS HAX1 10456 broad.mit.edu 37 1 154245822 154245822 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:154245822C>T uc001fes.2 + 2 225 c.64C>T c.(64-66)CCC>TCC p.P22S HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_Missense_Mutation_p.P22S|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_5'UTR NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 22 Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCACAGAGATCCCTTTTTTGG 0.488 Kostmann_syndrome 5 125 --- --- --- --- PASS OR6K2 81448 broad.mit.edu 37 1 158669893 158669893 + Silent SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:158669893G>A uc001fsu.1 - 1 550 c.550C>T c.(550-552)CTG>TTG p.L184L NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GCCAGACGCAGCACTGGGAGG 0.478 25 62 --- --- --- --- PASS OR6K2 81448 broad.mit.edu 37 1 158670088 158670088 + Missense_Mutation SNP A T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:158670088A>T uc001fsu.1 - 1 355 c.355T>A c.(355-357)TTT>ATT p.F119I NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TAGTGGTCAAAGGCCATAACT 0.473 26 43 --- --- --- --- PASS DARC 2532 broad.mit.edu 37 1 159175750 159175750 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:159175750G>T uc001fto.2 + 2 761 c.521G>T c.(520-522)TGG>TTG p.W174L DARC_uc001ftp.3_Missense_Mutation_p.W176L NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 174 Helical; Name=4; (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) GTGGGAATTTGGGGAGTGGCT 0.622 3 44 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167097527 167097527 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:167097527G>T uc001geb.1 + 5 3159 c.3159G>T c.(3157-3159)GAG>GAT p.E1053D NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1053 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 AAAGGGAAGAGTCCCCAGAAC 0.562 20 41 --- --- --- --- PASS SELE 6401 broad.mit.edu 37 1 169702053 169702053 + Missense_Mutation SNP G C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:169702053G>C uc001ggm.3 - 3 281 c.124C>G c.(124-126)CAA>GAA p.Q42E C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 42 Extracellular (Potential).|C-type lectin. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) GTGTACCTTTGCTGACAATAA 0.418 30 60 --- --- --- --- PASS MYOC 4653 broad.mit.edu 37 1 171621272 171621272 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:171621272C>T uc001ghu.2 - 1 502 c.480G>A c.(478-480)AGG>AGA p.R160R MYOC_uc010pmk.1_Silent_p.R102R NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 160 Potential. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CATTTTCTTGCCTTAGTCGCT 0.567 34 349 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 179965809 179965809 + Nonsense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:179965809G>T uc001gnt.2 + 6 900 c.517G>T c.(517-519)GAA>TAA p.E173* CEP350_uc001gnr.1_Nonsense_Mutation_p.E147*|CEP350_uc009wxl.2_Nonsense_Mutation_p.E172*|CEP350_uc001gnu.2_Nonsense_Mutation_p.E7* NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 173 centrosome|nucleus|spindle ovary(4) 4 CAGTCGAGAAGAACGGAATAT 0.403 6 27 --- --- --- --- PASS CDC73 79577 broad.mit.edu 37 1 193218963 193218963 + Silent SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:193218963T>C uc001gtb.2 + 16 1764 c.1521T>C c.(1519-1521)GAT>GAC p.D507D NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 507 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 GTCATTTGGATAGACCAGTGT 0.363 Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 3 29 --- --- --- --- PASS PTPRC 5788 broad.mit.edu 37 1 198721755 198721755 + Silent SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:198721755A>G uc001gur.1 + 31 3537 c.3357A>G c.(3355-3357)CAA>CAG p.Q1119Q PTPRC_uc001gus.1_Silent_p.Q1071Q|PTPRC_uc001gut.1_Silent_p.Q958Q NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1119 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 ACCAGTACCAATATACAAACT 0.393 9 15 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207680060 207680060 + Silent SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:207680060T>C uc001hfy.2 + 3 443 c.303T>C c.(301-303)CGT>CGC p.R101R CR1_uc009xcl.1_Silent_p.R101R|CR1_uc001hfx.2_Silent_p.R101R|CR1_uc010psg.1_Silent_p.R101R|CR1_uc009xcj.1_Silent_p.R101R|CR1_uc009xck.1_Silent_p.R101R NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 101 Sushi 1.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTCCTGTAGGTAAATCATGTC 0.393 11 76 --- --- --- --- PASS FAM71A 149647 broad.mit.edu 37 1 212798756 212798756 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:212798756G>T uc001hjk.2 + 1 941 c.537G>T c.(535-537)GAG>GAT p.E179D uc010pth.1_RNA NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 179 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CACCCATGGAGAGTAACAGCA 0.507 20 209 --- --- --- --- PASS PROX1 5629 broad.mit.edu 37 1 214209146 214209146 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:214209146C>T uc001hkh.2 + 5 2455 c.2183C>T c.(2182-2184)CCG>CTG p.P728L NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 728 Prospero-like. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TTCAAATCCCCGAACTGCCTA 0.428 4 45 --- --- --- --- PASS TARBP1 6894 broad.mit.edu 37 1 234561477 234561477 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:234561477C>A uc001hwd.2 - 20 3386 c.3386G>T c.(3385-3387)GGC>GTC p.G1129V NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1129 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CATATTGGAGCCATCTAATAA 0.274 20 35 --- --- --- --- PASS OR2L2 26246 broad.mit.edu 37 1 248201738 248201738 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:248201738C>G uc001idw.2 + 1 265 c.169C>G c.(169-171)CCT>GCT p.P57A OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCTCCACACACCTATGTATTT 0.323 22 170 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248570189 248570189 + Silent SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:248570189G>A uc010pzm.1 + 1 894 c.894G>A c.(892-894)GTG>GTA p.V298V NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 298 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGACTGTGGTGTCCTTGTTCT 0.512 43 59 --- --- --- --- PASS TMEM18 129787 broad.mit.edu 37 2 669658 669658 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:669658C>T uc002qwl.2 - 5 439 c.345G>A c.(343-345)AAG>AAA p.K115K TMEM18_uc002qwk.2_RNA NM_152834 NP_690047 Q96B42 TMM18_HUMAN transmembrane protein 18 115 cell migration integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) CATTCAAAGTCTTCCATACCC 0.328 22 53 --- --- --- --- PASS RNF144A 9781 broad.mit.edu 37 2 7137071 7137071 + Missense_Mutation SNP G C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:7137071G>C uc002qys.2 + 3 456 c.14G>C c.(13-15)AGG>ACG p.R5T RNF144A_uc002qyt.2_Intron NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 5 Golgi apparatus|integral to membrane ligase activity|zinc ion binding p.R5R(1) ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) ACCACAACAAGGTACCGGCCC 0.607 4 63 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11758996 11758996 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:11758996G>T uc002rbk.1 + 22 4295 c.3995G>T c.(3994-3996)CGC>CTC p.R1332L GREB1_uc002rbp.1_Missense_Mutation_p.R330L NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1332 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCCGAGGGCCGCGTGGACGGC 0.701 7 21 --- --- --- --- PASS WDR35 57539 broad.mit.edu 37 2 20131147 20131147 + Silent SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:20131147T>C uc002rdi.2 - 25 2988 c.2880A>G c.(2878-2880)AAA>AAG p.K960K WDR35_uc002rdj.2_Silent_p.K949K|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Silent_p.K433K NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 960 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTTACTTCCTTTCTTTGCCT 0.343 3 39 --- --- --- --- PASS SNX17 9784 broad.mit.edu 37 2 27599539 27599539 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:27599539G>T uc002rkg.1 + 15 1588 c.1366G>T c.(1366-1368)GTC>TTC p.V456F SNX17_uc010ylj.1_Missense_Mutation_p.V436F|SNX17_uc010ylk.1_Missense_Mutation_p.V242F|SNX17_uc010eza.1_Missense_Mutation_p.V242F|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Missense_Mutation_p.V242F|SNX17_uc010yll.1_Missense_Mutation_p.V242F|SNX17_uc010ylm.1_Missense_Mutation_p.V242F|SNX17_uc010yln.1_Missense_Mutation_p.V444F|SNX17_uc010ylo.1_Missense_Mutation_p.V374F|SNX17_uc010ylp.1_Missense_Mutation_p.V431F|SNX17_uc010ylq.1_Missense_Mutation_p.V242F NM_014748 NP_055563 Q15036 SNX17_HUMAN sorting nexin 17 456 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCCAGTGATGTCCACGGCAA 0.532 39 48 --- --- --- --- PASS SPAST 6683 broad.mit.edu 37 2 32361662 32361662 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:32361662C>G uc002roc.2 + 10 1497 c.1276C>G c.(1276-1278)CTT>GTT p.L426V SPAST_uc002rod.2_Missense_Mutation_p.L394V NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 426 Sufficient for microtubule severing. L -> V (in SPG4; promotes microtubule binding and the formation of thick microtubule bundles). cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGTGAGGGCTCTTTTTGCTGT 0.323 12 94 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40656652 40656652 + Silent SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:40656652G>A uc002rrx.2 - 1 793 c.769C>T c.(769-771)CTG>TTG p.L257L SLC8A1_uc002rry.2_Silent_p.L257L|SLC8A1_uc002rrz.2_Silent_p.L257L|SLC8A1_uc002rsa.2_Silent_p.L257L|SLC8A1_uc002rsd.3_Silent_p.L257L|SLC8A1_uc002rsb.1_Silent_p.L257L|SLC8A1_uc010fan.1_Silent_p.L257L|SLC8A1_uc002rsc.1_Silent_p.L257L NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 257 Calmodulin-binding (Potential).|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TTGTAAAACAGAAGTCTCCTA 0.448 15 128 --- --- --- --- PASS ZFP36L2 678 broad.mit.edu 37 2 43452225 43452225 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 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 5 43 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43520205 43520205 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:43520205G>A uc002rsw.3 - 32 4938 c.4586C>T c.(4585-4587)GCC>GTC p.A1529V THADA_uc010far.2_Missense_Mutation_p.A724V|THADA_uc002rsx.3_Missense_Mutation_p.A1529V|THADA_uc002rsy.3_RNA NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1529 Poly-Ala. binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) GGCTGCCGCGGCCCACACTGC 0.577 11 91 --- --- --- --- PASS SOCS5 9655 broad.mit.edu 37 2 46986955 46986955 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:46986955G>T uc002rvf.2 + 2 1450 c.1286G>T c.(1285-1287)CGA>CTA p.R429L SOCS5_uc010yoe.1_Missense_Mutation_p.R398L|SOCS5_uc002rvg.2_Missense_Mutation_p.R429L NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 429 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth p.R429*(1)|p.R429Q(1) ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CTGCATGCCCGAATTGAGCAG 0.498 63 77 --- --- --- --- PASS SMEK2 57223 broad.mit.edu 37 2 55795348 55795348 + Missense_Mutation SNP C G G rs143418918 byFrequency TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:55795348C>G uc002rzc.2 - 13 2292 c.1917G>C c.(1915-1917)TTG>TTC p.L639F SMEK2_uc002rzb.2_Missense_Mutation_p.L554F|SMEK2_uc002rzd.2_Missense_Mutation_p.L607F|SMEK2_uc002ryz.2_Missense_Mutation_p.L73F|SMEK2_uc002rza.2_Missense_Mutation_p.L430F NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 639 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TAAATTCAAACAACTCAATAA 0.269 6 30 --- --- --- --- PASS IMMT 10989 broad.mit.edu 37 2 86374846 86374846 + Missense_Mutation SNP T A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:86374846T>A uc002sqz.3 - 13 1900 c.1512A>T c.(1510-1512)GAA>GAT p.E504D IMMT_uc002sqy.3_Missense_Mutation_p.E245D|IMMT_uc002srb.3_Missense_Mutation_p.E493D|IMMT_uc002sra.3_Missense_Mutation_p.E503D|IMMT_uc010ytd.1_Missense_Mutation_p.E492D|IMMT_uc010yte.1_Missense_Mutation_p.E457D|IMMT_uc002src.1_Missense_Mutation_p.E240D NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 504 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 CAGACTTCAATTCCTGTTCTT 0.488 10 87 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89513339 89513339 + RNA SNP A T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:89513339A>T uc010ytr.1 - 22 c.2673T>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. TGGGAGCCAGAGCAGCAGGAG 0.473 14 128 --- --- --- --- PASS ARID5A 10865 broad.mit.edu 37 2 97217930 97217930 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:97217930C>T uc002swe.2 + 7 1765 c.1665C>T c.(1663-1665)CCC>CCT p.P555P ARID5A_uc010yuq.1_Silent_p.P503P|ARID5A_uc002swf.2_Silent_p.P391P|ARID5A_uc002swg.2_Silent_p.P503P NM_212481 NP_997646 Q03989 ARI5A_HUMAN AT rich interactive domain 5A 555 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding 0 TGCACTTCCCCCCAACGTCCT 0.677 50 102 --- --- --- --- PASS IL1R2 7850 broad.mit.edu 37 2 102644717 102644717 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:102644717C>T uc002tbm.2 + 9 1289 c.1060C>T c.(1060-1062)CTG>TTG p.L354L IL1R2_uc002tbn.2_Silent_p.L354L NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 354 Helical; (Potential). immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) GGGCATTGTGCTGGCCCCACT 0.532 56 69 --- --- --- --- PASS GTDC1 79712 broad.mit.edu 37 2 144764930 144764930 + Missense_Mutation SNP G C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:144764930G>C uc002tvp.2 - 7 973 c.694C>G c.(694-696)CGA>GGA p.R232G GTDC1_uc002tvo.2_Missense_Mutation_p.R232G|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.R232G|GTDC1_uc010fnn.2_Missense_Mutation_p.R232G|GTDC1_uc002tvs.2_Missense_Mutation_p.R200G|GTDC1_uc010fno.2_Missense_Mutation_p.R103G|GTDC1_uc002tvt.1_Missense_Mutation_p.R232G NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 232 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) TATTCTTGTCGTGCAGTATCA 0.388 27 49 --- --- --- --- PASS RIF1 55183 broad.mit.edu 37 2 152289653 152289653 + Missense_Mutation SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:152289653A>G uc002txm.2 + 10 1118 c.988A>G c.(988-990)AGA>GGA p.R330G RIF1_uc002txl.2_Missense_Mutation_p.R330G|RIF1_uc010fnv.1_Missense_Mutation_p.R294G|RIF1_uc002txn.2_Missense_Mutation_p.R330G|RIF1_uc002txo.2_Missense_Mutation_p.R330G|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 330 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) CATCCATGTGAGAACAGAAAC 0.363 20 50 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164466434 164466434 + Silent SNP T A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:164466434T>A uc002uck.1 - 3 2219 c.1908A>T c.(1906-1908)ATA>ATT p.I636I NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 636 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 GGGATTCATCTATTTCTTCTG 0.453 10 108 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179396364 179396364 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:179396364G>T uc010zfg.1 - 307 97498 c.97274C>A c.(97273-97275)ACG>AAG p.T32425K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26120K|TTN_uc010zfi.1_Missense_Mutation_p.T26053K|TTN_uc010zfj.1_Missense_Mutation_p.T25928K|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33352 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) GACTCCACTCGTGTTGGTGTA 0.453 35 63 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179413276 179413276 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:179413276T>C uc010zfg.1 - 288 85597 c.85373A>G c.(85372-85374)AAA>AGA p.K28458R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K22153R|TTN_uc010zfi.1_Missense_Mutation_p.K22086R|TTN_uc010zfj.1_Missense_Mutation_p.K21961R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29385 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) GGTCACATCTTTGAAGGTAAT 0.483 29 206 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179443382 179443382 + Missense_Mutation SNP A T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:179443382A>T uc010zfg.1 - 270 60805 c.60581T>A c.(60580-60582)CTA>CAA p.L20194Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L13889Q|TTN_uc010zfi.1_Missense_Mutation_p.L13822Q|TTN_uc010zfj.1_Missense_Mutation_p.L13697Q|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21121 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) AGTCCAAGTTAGAGATACTGA 0.378 5 28 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179451523 179451523 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:179451523G>A uc010zfg.1 - 257 56625 c.56401C>T c.(56401-56403)CCC>TCC p.P18801S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12496S|TTN_uc010zfi.1_Missense_Mutation_p.P12429S|TTN_uc010zfj.1_Missense_Mutation_p.P12304S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19728 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) TTCCTTGGGGGATCCGGCTCA 0.408 35 71 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 205969167 205969167 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:205969167G>T uc002var.1 + 5 729 c.522G>T c.(520-522)TTG>TTT p.L174F PARD3B_uc010fub.1_Missense_Mutation_p.L174F|PARD3B_uc002vao.1_Missense_Mutation_p.L174F|PARD3B_uc002vap.1_Missense_Mutation_p.L174F|PARD3B_uc002vaq.1_Missense_Mutation_p.L174F NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 174 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CGCAGAACTTGGAAGACAGAG 0.358 34 77 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 205969168 205969168 + Nonsense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:205969168G>T uc002var.1 + 5 730 c.523G>T c.(523-525)GAA>TAA p.E175* PARD3B_uc010fub.1_Nonsense_Mutation_p.E175*|PARD3B_uc002vao.1_Nonsense_Mutation_p.E175*|PARD3B_uc002vap.1_Nonsense_Mutation_p.E175*|PARD3B_uc002vaq.1_Nonsense_Mutation_p.E175* NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 175 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GCAGAACTTGGAAGACAGAGA 0.363 34 76 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216284091 216284091 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:216284091C>G uc002vfa.2 - 12 1959 c.1693G>C c.(1693-1695)GAG>CAG p.E565Q FN1_uc002vfb.2_Missense_Mutation_p.E565Q|FN1_uc002vfc.2_Missense_Mutation_p.E565Q|FN1_uc002vfd.2_Missense_Mutation_p.E565Q|FN1_uc002vfe.2_Missense_Mutation_p.E565Q|FN1_uc002vff.2_Missense_Mutation_p.E565Q|FN1_uc002vfg.2_Missense_Mutation_p.E565Q|FN1_uc002vfh.2_Missense_Mutation_p.E565Q|FN1_uc002vfi.2_Missense_Mutation_p.E565Q|FN1_uc002vfj.2_Missense_Mutation_p.E565Q|FN1_uc002vfl.2_Missense_Mutation_p.E565Q NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 565 Fibronectin type-I 9.|Collagen-binding. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCCCAGTCTCTGAATCCTGG 0.423 5 49 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 228009244 228009244 + Missense_Mutation SNP T G G rs3817617 byFrequency TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:228009244T>G uc010zlt.1 - 3 756 c.102A>C c.(100-102)CAA>CAC p.Q34H NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 34 axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CATATACATATTGTACAGAAA 0.279 22 74 --- --- --- --- PASS WDR69 164781 broad.mit.edu 37 2 228770965 228770965 + Missense_Mutation SNP T A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:228770965T>A uc002vpn.1 + 9 848 c.769T>A c.(769-771)TTA>ATA p.L257I WDR69_uc010zlw.1_Missense_Mutation_p.L242I|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 257 breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) GGTAAATATCTTAATTGGTCA 0.358 39 61 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228881326 228881326 + Missense_Mutation SNP T A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:228881326T>A uc002vpq.2 - 7 4291 c.4244A>T c.(4243-4245)AAC>ATC p.N1415I SPHKAP_uc002vpp.2_Missense_Mutation_p.N1415I|SPHKAP_uc010zlx.1_Missense_Mutation_p.N1415I NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1415 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCTTTTGTGGTTTATTGGTAC 0.468 59 90 --- --- --- --- PASS NISCH 11188 broad.mit.edu 37 3 52526092 52526092 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr3:52526092C>G uc011beg.1 + 22 4181 c.4109C>G c.(4108-4110)CCC>CGC p.P1370R NISCH_uc003ded.3_Missense_Mutation_p.P1370R|NISCH_uc003dee.3_Missense_Mutation_p.P859R|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Missense_Mutation_p.P119R NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1370 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCCCTGCGCCCCAAGACACTC 0.652 18 39 --- --- --- --- PASS ACTR8 93973 broad.mit.edu 37 3 53908307 53908307 + Missense_Mutation SNP G C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr3:53908307G>C uc003dhd.2 - 8 1055 c.996C>G c.(994-996)TGC>TGG p.C332W ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.C221W NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 332 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TTGTTAACTGGCATTCTCTGT 0.383 6 46 --- --- --- --- PASS ABI3BP 25890 broad.mit.edu 37 3 100594406 100594406 + Missense_Mutation SNP G C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr3:100594406G>C uc003dun.2 - 8 869 c.784C>G c.(784-786)CAC>GAC p.H262D ABI3BP_uc003duo.2_Missense_Mutation_p.H255D|ABI3BP_uc003dup.3_Missense_Mutation_p.H255D NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 262 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 GAATCCTTGTGAGTAACATTC 0.443 16 38 --- --- --- --- PASS COL29A1 256076 broad.mit.edu 37 3 130187876 130187876 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr3:130187876C>T uc010htj.1 + 38 7522 c.7028C>T c.(7027-7029)CCT>CTT p.P2343L COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.P382L NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2343 VWFA 10.|Nonhelical region. axon guidance|cell adhesion collagen 0 AGCTACTCTCCTCCAGGCTAT 0.438 7 45 --- --- --- --- PASS PRR23B 389151 broad.mit.edu 37 3 138739077 138739077 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr3:138739077C>T uc003esy.1 - 1 692 c.427G>A c.(427-429)GCA>ACA p.A143T NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 143 breast(1) 1 GGGACAGATGCGCAGAATTCC 0.667 18 86 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128271 147128271 + Silent SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr3:147128271G>A uc003ewe.2 + 1 1091 c.372G>A c.(370-372)TCG>TCA p.S124S NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 124 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TTGCTGCATCGGCCGGGGGCT 0.716 15 54 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155206556 155206556 + Missense_Mutation SNP A T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr3:155206556A>T uc011bok.1 - 19 2673 c.2396T>A c.(2395-2397)GTA>GAA p.V799E PLCH1_uc011boj.1_Missense_Mutation_p.V799E|PLCH1_uc011bol.1_Missense_Mutation_p.V781E NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 799 C2. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGGCATGTGTACTGTAAATGT 0.428 17 59 --- --- --- --- PASS ARL14 80117 broad.mit.edu 37 3 160395630 160395630 + Nonsense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr3:160395630C>T uc003fdq.2 + 1 683 c.496C>T c.(496-498)CAG>TAG p.Q166* NM_025047 NP_079323 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 166 small GTPase mediated signal transduction intracellular GTP binding 0 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) GGGGCTGGCCCAGGGGTTCAG 0.502 4 113 --- --- --- --- PASS STK32B 55351 broad.mit.edu 37 4 5418612 5418612 + Silent SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr4:5418612G>T uc003gih.1 + 6 577 c.513G>T c.(511-513)GTG>GTT p.V171V STK32B_uc010ida.1_Silent_p.V124V NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 171 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 CGACGGTAGTGAAAGGAGCAG 0.502 10 16 --- --- --- --- PASS GPR78 27201 broad.mit.edu 37 4 8588916 8588916 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr4:8588916C>T uc003glk.2 + 3 1337 c.918C>T c.(916-918)GCC>GCT p.A306A CPZ_uc003gll.2_Intron NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 306 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 AAGTCCTGGCCGGCATGGTGC 0.652 14 32 --- --- --- --- PASS CWH43 80157 broad.mit.edu 37 4 49063890 49063890 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr4:49063890C>G uc003gyv.2 + 16 2265 c.2083C>G c.(2083-2085)CCC>GCC p.P695A CWH43_uc011bzl.1_Missense_Mutation_p.P668A NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 695 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 TATGAATACTCCCAAATACTT 0.254 5 24 --- --- --- --- PASS SRP72 6731 broad.mit.edu 37 4 57357606 57357606 + Silent SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr4:57357606A>G uc003hbv.2 + 16 1552 c.1512A>G c.(1510-1512)AAA>AAG p.K504K SRP72_uc010ihe.2_Silent_p.K443K|SRP72_uc003hbw.1_Silent_p.K265K NM_006947 NP_008878 O76094 SRP72_HUMAN signal recognition particle 72kDa 504 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding ovary(1) 1 Glioma(25;0.08)|all_neural(26;0.101) GTCTTAGTAAACACTTGCCAT 0.358 37 112 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73186501 73186501 + Silent SNP G C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr4:73186501G>C uc003hgk.1 - 7 1069 c.1032C>G c.(1030-1032)CTC>CTG p.L344L NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 344 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CAGAGTGGTTGAGATCAGATC 0.443 22 65 --- --- --- --- PASS BMP3 651 broad.mit.edu 37 4 81952680 81952680 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr4:81952680G>A uc003hmg.3 + 1 562 c.242G>A c.(241-243)GGA>GAA p.G81E NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 81 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 TCCCTGGAGGGAGGCTCGCAG 0.672 7 27 --- --- --- --- PASS AFF1 4299 broad.mit.edu 37 4 88035845 88035845 + Silent SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr4:88035845C>G uc003hqj.3 + 11 2246 c.1839C>G c.(1837-1839)GCC>GCG p.A613A AFF1_uc011ccz.1_Silent_p.A620A|AFF1_uc003hqk.3_Silent_p.A613A|AFF1_uc011cda.1_Silent_p.A251A NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 613 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AGGCCTCTGCCCGGGCAGGTT 0.587 4 70 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155237114 155237114 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr4:155237114C>T uc003inw.2 - 15 3681 c.3681G>A c.(3679-3681)TTG>TTA p.L1227L NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1227 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTTCATAATCCAAAGGACAGG 0.383 7 17 --- --- --- --- PASS FGG 2266 broad.mit.edu 37 4 155531250 155531250 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr4:155531250G>T uc003ioj.2 - 5 642 c.501C>A c.(499-501)GAC>GAA p.D167E FGG_uc003iog.2_Missense_Mutation_p.D167E|FGG_uc003ioh.2_Missense_Mutation_p.D167E|FGG_uc010ipx.2_Intron|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.D167E NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 167 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TTTGCACCGTGTCTTTGCAAG 0.368 25 41 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5237099 5237099 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:5237099C>A uc003jdl.2 + 14 2179 c.2041C>A c.(2041-2043)CTC>ATC p.L681I ADAMTS16_uc003jdk.1_Missense_Mutation_p.L681I|ADAMTS16_uc010itk.1_Intron NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 681 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CTTATGCAAACTCTACTGTAT 0.333 10 94 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33588803 33588803 + Silent SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:33588803C>A uc003jia.1 - 18 2929 c.2766G>T c.(2764-2766)CCG>CCT p.P922P ADAMTS12_uc010iuq.1_Silent_p.P837P NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 922 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AGTCTGTGGGCGGGAGAGCCT 0.632 HNSCC(64;0.19) 18 102 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33937435 33937435 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:33937435G>T uc003jic.1 + 1 947 c.590G>T c.(589-591)GGC>GTC p.G197V NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 197 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 CGAGGACACGGCCGGGGCGAC 0.662 12 54 --- --- --- --- PASS NIPBL 25836 broad.mit.edu 37 5 36995735 36995735 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:36995735C>G uc003jkl.3 + 11 3632 c.3133C>G c.(3133-3135)CAA>GAA p.Q1045E NIPBL_uc003jkk.3_Missense_Mutation_p.Q1045E|NIPBL_uc003jkm.1_Missense_Mutation_p.Q924E NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1045 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TAGTATAGATCAATCAGTGTT 0.313 5 43 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38350605 38350605 + Silent SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:38350605G>A uc003jlc.1 + 4 618 c.294G>A c.(292-294)GAG>GAA p.E98E EGFLAM_uc003jlb.1_Silent_p.E98E NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 98 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) ATTGACAGGAGGAAGTGATTG 0.468 19 87 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41382282 41382282 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:41382282T>C uc003jmm.1 - 2 560 c.458A>G c.(457-459)TAT>TGT p.Y153C NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 153 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 TTCATGGTGATATTTCTGCAT 0.413 12 125 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262686 45262686 + Silent SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:45262686C>A uc003jok.2 - 8 2035 c.2010G>T c.(2008-2010)GCG>GCT p.A670A NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 670 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ACAGGCTGGTCGCTGTGTACA 0.582 19 80 --- --- --- --- PASS SLCO4C1 353189 broad.mit.edu 37 5 101583092 101583092 + Nonsense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:101583092C>A uc003knm.2 - 10 1962 c.1675G>T c.(1675-1677)GAA>TAA p.E559* NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 559 Extracellular (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CCAAAAGTTTCTGCAGTGGAT 0.294 22 41 --- --- --- --- PASS PHF15 23338 broad.mit.edu 37 5 133901824 133901824 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:133901824G>A uc003kzo.1 + 9 1167 c.988G>A c.(988-990)GTC>ATC p.V330I PHF15_uc011cxt.1_Missense_Mutation_p.V330I|PHF15_uc003kzk.2_Missense_Mutation_p.V346I|PHF15_uc003kzl.2_Missense_Mutation_p.V330I|PHF15_uc003kzm.2_Missense_Mutation_p.V330I|PHF15_uc003kzn.2_Missense_Mutation_p.V330I|PHF15_uc003kzp.2_Missense_Mutation_p.V38I NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 330 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCCTTCCTGCGTCACAGCGTT 0.572 13 113 --- --- --- --- PASS PCDHB5 26167 broad.mit.edu 37 5 140515709 140515709 + Silent SNP C A A rs145844360 TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:140515709C>A uc003liq.2 + 1 910 c.693C>A c.(691-693)GTC>GTA p.V231V NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 231 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGCATTGTCGTCTTGGATA 0.547 105 180 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140574340 140574340 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:140574340G>T uc003lix.2 + 1 2389 c.2215G>T c.(2215-2217)GTG>TTG p.V739L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 739 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGGCATCTGGTGGACGTGAG 0.647 18 173 --- --- --- --- PASS PCDHGA10 56106 broad.mit.edu 37 5 140793265 140793265 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:140793265C>A uc003lkl.1 + 1 523 c.523C>A c.(523-525)CAG>AAG p.Q175K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.Q175K NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 175 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGAGCTATCAGCTCAGCCC 0.527 16 29 --- --- --- --- PASS RARS 5917 broad.mit.edu 37 5 167933834 167933834 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:167933834C>A uc003lzx.2 + 11 1385 c.1344C>A c.(1342-1344)GAC>GAA p.D448E RARS_uc011deo.1_Missense_Mutation_p.D242E NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 448 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TAGGGGAAGACAAGTAAGTCT 0.393 15 49 --- --- --- --- PASS CDHR2 54825 broad.mit.edu 37 5 176018407 176018407 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:176018407C>A uc003mem.1 + 30 3722 c.3656C>A c.(3655-3657)GCC>GAC p.A1219D CDHR2_uc003men.1_Missense_Mutation_p.A1219D NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 1219 Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 CTCTCCAGAGCCAACCCCATG 0.592 7 49 --- --- --- --- PASS GRK6 2870 broad.mit.edu 37 5 176859271 176859271 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr5:176859271C>T uc011dfz.1 + 4 459 c.299C>T c.(298-300)GCA>GTA p.A100V GRK6_uc003mgp.2_Missense_Mutation_p.A100V|GRK6_uc003mgq.2_Missense_Mutation_p.A100V|GRK6_uc003mgs.1_Missense_Mutation_p.A70V NM_002082 NP_002073 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 isoform B 100 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1)|stomach(1)|breast(1) 3 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGCGGAAGGCATGTGGGCGG 0.602 6 89 --- --- --- --- PASS MRS2 57380 broad.mit.edu 37 6 24418421 24418421 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr6:24418421C>G uc003neb.2 + 8 1068 c.946C>G c.(946-948)CTG>GTG p.L316V MRS2_uc003nea.2_Missense_Mutation_p.L316V|MRS2_uc011djl.1_Missense_Mutation_p.L319V|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.L266V|MRS2_uc003nec.2_Missense_Mutation_p.L193V NM_020662 NP_065713 Q9HD23 MRS2_HUMAN MRS2-like, magnesium homeostasis factor 316 Mitochondrial matrix (Potential). ion transport integral to membrane|mitochondrial inner membrane 0 GCTTAGGGTGCTGATTGATGA 0.348 3 94 --- --- --- --- PASS TMEM63B 55362 broad.mit.edu 37 6 44116675 44116675 + Missense_Mutation SNP A T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr6:44116675A>T uc003owr.2 + 15 1470 c.1406A>T c.(1405-1407)TAC>TTC p.Y469F TMEM63B_uc003owq.1_Missense_Mutation_p.Y469F|TMEM63B_uc003ows.2_Missense_Mutation_p.Y372F|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 469 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CCTGTGGAGTACCTCAACGTG 0.557 35 92 --- --- --- --- PASS NT5E 4907 broad.mit.edu 37 6 86181079 86181079 + Silent SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr6:86181079C>A uc003pko.3 + 3 1243 c.687C>A c.(685-687)ATC>ATA p.I229I NT5E_uc003pkn.2_Silent_p.I229I|NT5E_uc010kbr.2_Silent_p.I229I NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 229 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) ATAAACTCATCGCTCAGAAAG 0.408 3 84 --- --- --- --- PASS AIM1 202 broad.mit.edu 37 6 106968897 106968897 + Missense_Mutation SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr6:106968897A>G uc003prh.2 + 2 3077 c.2590A>G c.(2590-2592)ACT>GCT p.T864A NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 864 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GGCTTTCAGTACTTCTCAGAA 0.453 28 73 --- --- --- --- PASS SMPDL3A 10924 broad.mit.edu 37 6 123116872 123116872 + Missense_Mutation SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr6:123116872A>G uc003pzg.2 + 2 684 c.163A>G c.(163-165)ACA>GCA p.T55A SMPDL3A_uc003pzh.2_Intron NM_006714 NP_006705 Q92484 ASM3A_HUMAN acid sphingomyelinase-like phosphodiesterase 3A 55 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity 0 GBM - Glioblastoma multiforme(226;0.236) TTACCACATCACAGATGACCA 0.403 24 57 --- --- --- --- PASS TMEM200A 114801 broad.mit.edu 37 6 130762297 130762297 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr6:130762297C>T uc003qca.2 + 3 1601 c.730C>T c.(730-732)CCC>TCC p.P244S TMEM200A_uc010kfh.2_Missense_Mutation_p.P244S|TMEM200A_uc010kfi.2_Missense_Mutation_p.P244S|TMEM200A_uc003qcb.2_Missense_Mutation_p.P244S NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 244 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GCATCTTATGCCCCCTTTGCT 0.483 4 106 --- --- --- --- PASS MED23 9439 broad.mit.edu 37 6 131946127 131946127 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr6:131946127C>T uc003qcs.1 - 4 336 c.162G>A c.(160-162)GAG>GAA p.E54E MED23_uc003qcq.2_Silent_p.E54E|MED23_uc003qct.1_Silent_p.E54E|MED23_uc011ecb.1_RNA NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 54 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GTTCATGAGACTCCTGGAAAA 0.338 14 57 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152576797 152576797 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr6:152576797C>T uc010kiw.2 - 103 19791 c.19189G>A c.(19189-19191)GTT>ATT p.V6397I SYNE1_uc010kiv.2_Missense_Mutation_p.V921I|SYNE1_uc003qos.3_Missense_Mutation_p.V921I|SYNE1_uc003qot.3_Missense_Mutation_p.V6326I|SYNE1_uc003qou.3_Missense_Mutation_p.V6397I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6397 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CGTTCTTCAACGTCATCCAAC 0.458 HNSCC(10;0.0054) 17 93 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159653483 159653483 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr6:159653483T>C uc010kjv.2 + 11 2139 c.1939T>C c.(1939-1941)TCA>CCA p.S647P FNDC1_uc010kjw.1_Missense_Mutation_p.S532P NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 647 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CTTGGTGGACTCAGACGAAGA 0.692 23 61 --- --- --- --- PASS CYTH3 9265 broad.mit.edu 37 7 6213320 6213320 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:6213320T>C uc003spt.2 - 6 517 c.413A>G c.(412-414)CAT>CGT p.H138R CYTH3_uc011jws.1_5'Flank NM_004227 NP_004218 O43739 CYH3_HUMAN cytohesin 3 138 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 0 AGCAAACTCATGGAGTTCAAC 0.398 35 79 --- --- --- --- PASS BMPER 168667 broad.mit.edu 37 7 34009998 34009998 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:34009998G>A uc011kap.1 + 5 574 c.460G>A c.(460-462)GAG>AAG p.E154K NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 154 VWFC 2. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 AAACCCTTTGGAGCATCTGGG 0.498 58 189 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38505102 38505102 + Missense_Mutation SNP G C C rs146457438 byFrequency TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:38505102G>C uc003tgu.2 - 9 783 c.714C>G c.(712-714)CAC>CAG p.H238Q AMPH_uc003tgv.2_Missense_Mutation_p.H238Q|AMPH_uc003tgt.2_5'Flank NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 238 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 CCTTGTCGGCGTGCTGGTCAC 0.502 6 13 --- --- --- --- PASS C7orf10 79783 broad.mit.edu 37 7 40314128 40314128 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:40314128G>T uc003thn.1 + 8 638 c.593G>T c.(592-594)CGC>CTC p.R198L C7orf10_uc003thm.1_Missense_Mutation_p.R168L|C7orf10_uc003tho.1_Intron NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 205 transferase activity ovary(2) 2 GATCCAGTTCGCCCAGGAGTA 0.368 17 56 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82582540 82582540 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:82582540T>C uc003uhx.2 - 5 8018 c.7729A>G c.(7729-7731)ACA>GCA p.T2577A PCLO_uc003uhv.2_Missense_Mutation_p.T2577A|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2508 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TAAGTTTCTGTGAGGGATTTG 0.438 92 176 --- --- --- --- PASS DYNC1I1 1780 broad.mit.edu 37 7 95709710 95709710 + Silent SNP C A A rs145003989 TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:95709710C>A uc003uoc.3 + 16 2014 c.1737C>A c.(1735-1737)TCC>TCA p.S579S DYNC1I1_uc003uod.3_Silent_p.S562S|DYNC1I1_uc003uob.2_Silent_p.S542S|DYNC1I1_uc003uoe.3_Silent_p.S559S|DYNC1I1_uc010lfl.2_Silent_p.S568S NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 579 WD 7. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AGGGGGCATCCGCCCTAAACC 0.468 27 192 --- --- --- --- PASS MIR106B 406900 broad.mit.edu 37 7 99691659 99691659 + RNA SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:99691659G>A hsa-mir-106b|MI0000734 - c.39G>A MCM7_uc003usv.1_Intron|MCM7_uc003usw.1_Intron|MCM7_uc003usx.1_Intron|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_RNA 0 GCACGGAGAGGACCACTATCT 0.602 11 29 --- --- --- --- PASS AP4M1 9179 broad.mit.edu 37 7 99701047 99701047 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:99701047C>A uc003utb.3 + 5 575 c.367C>A c.(367-369)CAG>AAG p.Q123K MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Intron|AP4M1_uc010lgl.1_Missense_Mutation_p.Q123K|AP4M1_uc003utc.3_Missense_Mutation_p.Q130K|AP4M1_uc010lgm.2_5'UTR|AP4M1_uc003utd.2_Missense_Mutation_p.Q123K|AP4M1_uc011kjh.1_Missense_Mutation_p.Q75K|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_5'UTR NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 123 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGCTATGTACAGACCACATC 0.478 47 66 --- --- --- --- PASS PMPCB 9512 broad.mit.edu 37 7 102939977 102939977 + Splice_Site SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:102939977G>T uc003vbl.2 + 3 361 c.327_splice c.e3+1 p.K109_splice PMPCB_uc010liu.1_Splice_Site_p.K109_splice|PMPCB_uc003vbk.1_Splice_Site_p.K109_splice|PMPCB_uc003vbm.2_Missense_Mutation_p.R17S|PMPCB_uc010liv.2_Missense_Mutation_p.R17S|PMPCB_uc010liw.2_Missense_Mutation_p.R17S|PMPCB_uc011kll.1_Splice_Site_p.K4_splice|PMPCB_uc011klm.1_5'Flank NM_004279 NP_004270 O75439 MPPB_HUMAN mitochondrial processing peptidase beta subunit proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding ovary(4) 4 GGCTTTCAAGGCAAGTTGTAA 0.383 4 48 --- --- --- --- PASS PSMC2 5701 broad.mit.edu 37 7 103002523 103002523 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:103002523G>A uc003vbs.2 + 5 480 c.410G>A c.(409-411)GGG>GAG p.G137E SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.G137E|PSMC2_uc011klo.1_5'UTR NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 137 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 ATTGAAGAAGGGATGAGAGTG 0.393 15 61 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131864544 131864544 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:131864544G>A uc003vra.3 - 20 4005 c.3776C>T c.(3775-3777)GCC>GTC p.A1259V NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1259 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GCGTTTATAGGCAATGAGCAC 0.607 13 41 --- --- --- --- PASS EXOC4 60412 broad.mit.edu 37 7 132973849 132973849 + Silent SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:132973849T>C uc003vrk.2 + 3 485 c.450T>C c.(448-450)TAT>TAC p.Y150Y EXOC4_uc011kpo.1_Silent_p.Y49Y|EXOC4_uc003vri.2_Silent_p.Y150Y|EXOC4_uc003vrj.2_Silent_p.Y150Y NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 150 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) GCAAGCACTATCTCAGTGCCA 0.413 20 28 --- --- --- --- PASS ZNF777 27153 broad.mit.edu 37 7 149148159 149148159 + Missense_Mutation SNP C A A rs73166023 by1000genomes TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:149148159C>A uc003wfv.2 - 4 1181 c.1018G>T c.(1018-1020)GGG>TGG p.G340W NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 340 Glu-rich.|KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGCCGCTCCCCGCGCTCCATC 0.547 40 122 --- --- --- --- PASS UBE3C 9690 broad.mit.edu 37 7 156967697 156967697 + Nonsense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:156967697C>T uc010lqs.2 + 5 739 c.427C>T c.(427-429)CAG>TAG p.Q143* UBE3C_uc003wnf.2_Nonsense_Mutation_p.Q100*|UBE3C_uc003wng.2_Nonsense_Mutation_p.Q143* NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 143 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) ATGCTTATTTCAGATAAAAAG 0.363 23 70 --- --- --- --- PASS PTPRN2 5799 broad.mit.edu 37 7 157926637 157926637 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:157926637G>T uc003wno.2 - 9 1409 c.1288C>A c.(1288-1290)CAC>AAC p.H430N PTPRN2_uc003wnp.2_Missense_Mutation_p.H413N|PTPRN2_uc003wnq.2_Missense_Mutation_p.H430N|PTPRN2_uc003wnr.2_Missense_Mutation_p.H392N|PTPRN2_uc011kwa.1_Missense_Mutation_p.H453N NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 430 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GACTCAGGGTGCTCGGACTTC 0.602 15 178 --- --- --- --- PASS SLC25A37 51312 broad.mit.edu 37 8 23428853 23428853 + Nonsense_Mutation SNP A T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr8:23428853A>T uc003xdo.2 + 4 655 c.502A>T c.(502-504)AAG>TAG p.K168* SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|SLC25A37_uc003xdr.1_RNA|uc003xds.2_5'Flank NM_016612 NP_057696 Q9NYZ2 MFRN1_HUMAN solute carrier family 25, member 37 168 Solcar 2. ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane 0 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) CACAGTGGTGAAGCAGCGCTT 0.627 3 8 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35648047 35648047 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr8:35648047C>A uc003xjr.1 + 17 3156 c.2828C>A c.(2827-2829)GCC>GAC p.A943D UNC5D_uc003xjs.1_Missense_Mutation_p.A938D|UNC5D_uc003xju.1_Missense_Mutation_p.A519D NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 943 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTTGATGAAGCCGACTTCAAC 0.493 64 31 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39525515 39525515 + Splice_Site SNP A T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr8:39525515A>T uc003xni.2 + 14 1327 c.1327_splice c.e14-2 p.L443_splice ADAM18_uc010lww.2_Splice_Site|ADAM18_uc010lwx.2_Splice_Site_p.L419_splice NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTTTCCTCCCAGTTGTCAATA 0.318 76 39 --- --- --- --- PASS ANK1 286 broad.mit.edu 37 8 41615632 41615632 + Silent SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr8:41615632C>G uc003xok.2 - 2 135 c.51G>C c.(49-51)CTG>CTC p.L17L NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.L17L|ANK1_uc003xoj.2_Silent_p.L17L|ANK1_uc003xol.2_Silent_p.L17L|ANK1_uc003xom.2_Silent_p.L50L NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 17 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTGCTGCTCTCAGAAAGCTGG 0.527 8 605 --- --- --- --- PASS RB1CC1 9821 broad.mit.edu 37 8 53586629 53586629 + Nonsense_Mutation SNP T A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr8:53586629T>A uc003xre.3 - 7 1336 c.778A>T c.(778-780)AAG>TAG p.K260* RB1CC1_uc003xrf.3_Nonsense_Mutation_p.K260* NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 260 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TCCACTGACTTGGGAAATGAG 0.418 133 100 --- --- --- --- PASS ATP6V0D2 245972 broad.mit.edu 37 8 87126017 87126017 + Missense_Mutation SNP T G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr8:87126017T>G uc003ydp.1 + 2 279 c.210T>G c.(208-210)ATT>ATG p.I70M NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 70 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding 0 TTTCCAAAATTGACACTGAGA 0.388 96 165 --- --- --- --- PASS ZC3H3 23144 broad.mit.edu 37 8 144550572 144550572 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr8:144550572C>T uc003yyd.2 - 7 2114 c.2085G>A c.(2083-2085)GAG>GAA p.E695E NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 695 C3H1-type 1. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CGGCCACCTTCTCGGGATCGT 0.667 19 14 --- --- --- --- PASS C9orf93 203238 broad.mit.edu 37 9 15745613 15745613 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr9:15745613C>T uc003zmd.2 + 18 2970 c.2655C>T c.(2653-2655)GAC>GAT p.D885D C9orf93_uc003zme.2_Silent_p.D800D|C9orf93_uc011lmu.1_Silent_p.D893D|C9orf93_uc003zmf.1_Silent_p.D193D NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 885 0 GBM - Glioblastoma multiforme(50;4.84e-07) AATTACAAGACGTCATTGGTA 0.363 20 177 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32634826 32634826 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr9:32634826G>T uc003zrg.1 - 1 842 c.752C>A c.(751-753)CCA>CAA p.P251Q uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 251 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCGAAATTCTGGAAAAAGTTC 0.488 59 101 --- --- --- --- PASS ZNF79 7633 broad.mit.edu 37 9 130206949 130206949 + Nonsense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr9:130206949C>T uc004bqw.3 + 5 1384 c.970C>T c.(970-972)CAG>TAG p.Q324* ZNF79_uc011maf.1_Nonsense_Mutation_p.Q300*|ZNF79_uc011mag.1_Nonsense_Mutation_p.Q300* NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 324 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CACGAACCATCAGAGGACTCA 0.552 4 99 --- --- --- --- PASS C9orf96 169436 broad.mit.edu 37 9 136253268 136253268 + Missense_Mutation SNP A T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr9:136253268A>T uc004cdk.2 + 5 393 c.332A>T c.(331-333)AAT>ATT p.N111I C9orf96_uc004cdl.2_RNA NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 111 Protein kinase. ATP binding|protein kinase activity stomach(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ATGGAGTTCAATGAGCTCAGC 0.577 14 123 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137642656 137642656 + Silent SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr9:137642656C>A uc004cfe.2 + 13 1972 c.1590C>A c.(1588-1590)GGC>GGA p.G530G NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 530 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAGGTGGCGGCGATGCGGGCT 0.632 13 28 --- --- --- --- PASS SPAG6 9576 broad.mit.edu 37 10 22676859 22676859 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr10:22676859C>A uc001iri.2 + 6 928 c.786C>A c.(784-786)GAC>GAA p.D262E SPAG6_uc001irj.2_Missense_Mutation_p.D262E|SPAG6_uc010qct.1_Missense_Mutation_p.D232E|SPAG6_uc009xkh.2_Missense_Mutation_p.D240E NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 262 ARM 6. cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 GTCTGAAGGACAAGGATGAAT 0.388 13 19 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68979440 68979440 + Silent SNP T G G rs140926333 byFrequency TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr10:68979440T>G uc009xpn.1 - 6 891 c.768A>C c.(766-768)TCA>TCC p.S256S CTNNA3_uc001jmw.2_Silent_p.S256S|CTNNA3_uc001jmx.3_Silent_p.S256S|CTNNA3_uc009xpo.1_Silent_p.S116S|CTNNA3_uc001jna.2_Silent_p.S268S NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 256 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 GGATCCCTTGTGAAGCATTTG 0.458 62 107 --- --- --- --- PASS PBLD 64081 broad.mit.edu 37 10 70051922 70051922 + Silent SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr10:70051922G>T uc001jns.1 - 5 560 c.357C>A c.(355-357)ATC>ATA p.I119I PBLD_uc001jnr.1_Silent_p.I86I|PBLD_uc001jnt.1_Silent_p.I119I|PBLD_uc001jnu.1_Silent_p.I119I|PBLD_uc001jnv.1_Silent_p.I86I NM_022129 NP_071412 P30039 PBLD_HUMAN MAWD binding protein isoform a 119 biosynthetic process isomerase activity skin(2)|ovary(1) 3 AGTCCAGGACGATGCCATCCT 0.468 15 79 --- --- --- --- PASS ZMIZ1 57178 broad.mit.edu 37 10 81070737 81070737 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr10:81070737C>A uc001kaf.2 + 24 3464 c.2892C>A c.(2890-2892)CAC>CAA p.H964Q ZMIZ1_uc001kag.2_Missense_Mutation_p.H840Q|ZMIZ1_uc010qlq.1_Intron NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 964 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AAGGTTTGCACGTACCACACC 0.522 47 86 --- --- --- --- PASS PRKCDBP 112464 broad.mit.edu 37 11 6340731 6340731 + Nonsense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:6340731G>A uc001mcu.1 - 2 482 c.448C>T c.(448-450)CAG>TAG p.Q150* NM_145040 NP_659477 Q969G5 PRDBP_HUMAN protein kinase C, delta binding protein 150 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGCTCGGACTGGTCCGCCGGG 0.677 8 16 --- --- --- --- PASS USH1C 10083 broad.mit.edu 37 11 17542900 17542900 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:17542900T>C uc001mnf.2 - 13 1187 c.1078A>G c.(1078-1080)ATG>GTG p.M360V USH1C_uc001mne.2_Missense_Mutation_p.M360V|USH1C_uc009yhb.2_Missense_Mutation_p.M341V|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.M324V NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 360 Potential. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 CACTGTTCCATCTCCTTCCGG 0.512 90 138 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587340 55587340 + Missense_Mutation SNP G T T rs142474714 byFrequency TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:55587340G>T uc010rin.1 + 1 235 c.235G>T c.(235-237)GCT>TCT p.A79S NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CTCCATCATTGCTCCCAAGAT 0.408 63 133 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55607000 55607000 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:55607000T>C uc010rio.1 + 1 773 c.773T>C c.(772-774)CTC>CCC p.L258P NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) GGCACCATCCTCTTCCTCTAC 0.537 7 110 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904449 55904449 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:55904449G>T uc010riz.1 - 1 746 c.746C>A c.(745-747)ACG>AAG p.T249K NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) ATAGAAAACCGTGACTGCTAT 0.398 5 77 --- --- --- --- PASS P2RX3 5024 broad.mit.edu 37 11 57117346 57117346 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:57117346C>A uc001nju.2 + 7 755 c.679C>A c.(679-681)CAG>AAG p.Q227K NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 227 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 GTTTGCGGGGCAGGATTTTGC 0.602 OREG0020966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 36 --- --- --- --- PASS HNRNPUL2 221092 broad.mit.edu 37 11 62483404 62483404 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:62483404C>A uc001nuw.2 - 12 2180 c.1987G>T c.(1987-1989)GGG>TGG p.G663W HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 663 cell killing nucleus ATP binding|nucleic acid binding 0 CGGCGCTGCCCGCCCACTGGA 0.602 8 22 --- --- --- --- PASS SLC22A10 387775 broad.mit.edu 37 11 63071614 63071614 + Silent SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:63071614G>T uc009yor.2 + 8 1528 c.1320G>T c.(1318-1320)CTG>CTT p.L440L SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.W234L NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 440 Helical; (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 TGGCATGTCTGGGAATCGGCT 0.488 56 113 --- --- --- --- PASS TMEM151A 256472 broad.mit.edu 37 11 66062455 66062455 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:66062455C>T uc001ohl.2 + 2 850 c.738C>T c.(736-738)AAC>AAT p.N246N NM_153266 NP_694998 Q8N4L1 T151A_HUMAN transmembrane protein 151A 246 integral to membrane central_nervous_system(1) 1 TCAGCGCCAACGAGGGCCTGG 0.692 6 8 --- --- --- --- PASS PELI3 246330 broad.mit.edu 37 11 66243384 66243384 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:66243384C>G uc001oic.3 + 8 1320 c.1156C>G c.(1156-1158)CTC>GTC p.L386V PELI3_uc001oid.3_Missense_Mutation_p.L362V|PELI3_uc001oie.3_Missense_Mutation_p.L237V NM_145065 NP_659502 Q8N2H9 PELI3_HUMAN pellino 3 alpha isoform 1 386 cytosol protein binding ovary(1) 1 CGAATGTCCTCTCTGCCGCCT 0.697 10 21 --- --- --- --- PASS XRRA1 143570 broad.mit.edu 37 11 74644890 74644890 + Missense_Mutation SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:74644890A>G uc009yub.2 - 5 639 c.307T>C c.(307-309)TCA>CCA p.S103P XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovo.2_5'UTR|XRRA1_uc001ovq.3_Missense_Mutation_p.S103P|XRRA1_uc001ovp.3_5'UTR|XRRA1_uc001ovr.2_5'UTR NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 103 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 CACAGATCTGATGGCTTCCTC 0.478 9 8 --- --- --- --- PASS KCTD21 283219 broad.mit.edu 37 11 77885071 77885071 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:77885071T>C uc001ozb.2 - 2 605 c.530A>G c.(529-531)CAC>CGC p.H177R NM_001029859 NP_001025030 Q4G0X4 KCD21_HUMAN potassium channel tetramerisation domain 177 voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) GTCCTGCAAGTGGCTGGTGAT 0.567 60 85 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83809999 83809999 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:83809999G>T uc001paj.2 - 5 704 c.401C>A c.(400-402)CCA>CAA p.P134Q DLG2_uc001pai.2_Missense_Mutation_p.P83Q|DLG2_uc010rsy.1_Missense_Mutation_p.P101Q|DLG2_uc010rsz.1_Missense_Mutation_p.P134Q|DLG2_uc010rta.1_Missense_Mutation_p.P134Q|DLG2_uc001pak.2_Missense_Mutation_p.P239Q|DLG2_uc010rtb.1_Missense_Mutation_p.P101Q|DLG2_uc001pal.1_Missense_Mutation_p.P134Q|DLG2_uc001pam.1_Missense_Mutation_p.P173Q NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 134 PDZ 1. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AGCACCTCCTGGTATAATCTT 0.428 5 9 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83810000 83810000 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:83810000G>T uc001paj.2 - 5 703 c.400C>A c.(400-402)CCA>ACA p.P134T DLG2_uc001pai.2_Missense_Mutation_p.P83T|DLG2_uc010rsy.1_Missense_Mutation_p.P101T|DLG2_uc010rsz.1_Missense_Mutation_p.P134T|DLG2_uc010rta.1_Missense_Mutation_p.P134T|DLG2_uc001pak.2_Missense_Mutation_p.P239T|DLG2_uc010rtb.1_Missense_Mutation_p.P101T|DLG2_uc001pal.1_Missense_Mutation_p.P134T|DLG2_uc001pam.1_Missense_Mutation_p.P173T NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 134 PDZ 1. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GCACCTCCTGGTATAATCTTC 0.428 5 9 --- --- --- --- PASS VWA5A 4013 broad.mit.edu 37 11 124005701 124005701 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr11:124005701C>T uc001pzu.2 + 12 1528 c.1319C>T c.(1318-1320)ACC>ATC p.T440I VWA5A_uc001pzt.2_Missense_Mutation_p.T440I NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 440 VWFA. upper_aerodigestive_tract(1)|ovary(1) 2 TCAGGGGGCACCTCAGAATTT 0.507 13 75 --- --- --- --- PASS CHD4 1108 broad.mit.edu 37 12 6700653 6700653 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:6700653C>G uc001qpo.2 - 22 3483 c.3319G>C c.(3319-3321)GAG>CAG p.E1107Q CHD4_uc001qpn.2_Missense_Mutation_p.E1100Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1104Q NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1107 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TCAATGGCCTCTTGCCGCATG 0.443 14 112 --- --- --- --- PASS PRB4 5545 broad.mit.edu 37 12 11461806 11461806 + Silent SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:11461806T>C uc001qzf.1 - 3 145 c.111A>G c.(109-111)GAA>GAG p.E37E PRB4_uc001qzt.2_Silent_p.E37E NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 37 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|1. LISGKPEGR -> IIPPKPPG (in Ref. 5; AA sequence).|E -> Q (in Ref. 2; CAA30543 and 7; CAA30542). extracellular region ovary(1) 1 GGCGTCGTCCTTCTGGCTTTC 0.532 HNSCC(22;0.051) 45 416 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 22068692 22068692 + Silent SNP A T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:22068692A>T uc001rfi.1 - 5 746 c.726T>A c.(724-726)CCT>CCA p.P242P ABCC9_uc001rfh.2_Silent_p.P242P|ABCC9_uc001rfj.1_Silent_p.P242P NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 242 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCAGATCAATAGGCTTTTTGT 0.368 9 110 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26636760 26636760 + Nonsense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:26636760G>T uc001rhg.2 - 42 6300 c.5883C>A c.(5881-5883)TGC>TGA p.C1961* ITPR2_uc009zjg.1_Nonsense_Mutation_p.C112* NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1961 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TTCCACAAATGCAGTCCAGAA 0.438 5 230 --- --- --- --- PASS TENC1 23371 broad.mit.edu 37 12 53448212 53448212 + Missense_Mutation SNP G C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:53448212G>C uc001sbp.2 + 7 644 c.509G>C c.(508-510)CGG>CCG p.R170P uc001sbk.1_RNA|TENC1_uc001sbl.2_Missense_Mutation_p.R46P|TENC1_uc001sbm.2_Missense_Mutation_p.R180P|TENC1_uc001sbn.2_Missense_Mutation_p.R180P|TENC1_uc001sbo.1_Missense_Mutation_p.R170P NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 170 Phosphatase tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding p.R170P(1) ovary(1)|pancreas(1) 2 TCCAAGCACCGGGACAAGTAC 0.672 4 34 --- --- --- --- PASS TENC1 23371 broad.mit.edu 37 12 53453230 53453230 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:53453230G>T uc001sbp.2 + 18 1940 c.1805G>T c.(1804-1806)TGC>TTC p.C602F TENC1_uc001sbl.2_Missense_Mutation_p.C478F|TENC1_uc001sbn.2_Missense_Mutation_p.C612F|TENC1_uc001sbq.2_Missense_Mutation_p.C97F|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.C97F|TENC1_uc001sbs.2_5'Flank NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 602 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 CGGGAGCCCTGCGGGGTTCCC 0.706 6 11 --- --- --- --- PASS TENC1 23371 broad.mit.edu 37 12 53454751 53454751 + Nonsense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:53454751C>T uc001sbp.2 + 20 3196 c.3061C>T c.(3061-3063)CGA>TGA p.R1021* TENC1_uc001sbl.2_Nonsense_Mutation_p.R897*|TENC1_uc001sbn.2_Nonsense_Mutation_p.R1031*|TENC1_uc001sbq.2_Nonsense_Mutation_p.R419*|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Nonsense_Mutation_p.R516*|TENC1_uc001sbs.2_5'Flank NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 1021 Pro-rich. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 GCAAGGCCCTCGAGGCCCCCC 0.687 9 15 --- --- --- --- PASS HOXC5 3222 broad.mit.edu 37 12 54427002 54427002 + Silent SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:54427002G>A uc001sew.2 + 1 171 c.96G>A c.(94-96)GAG>GAA p.E32E HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank NM_018953 NP_061826 Q00444 HXC5_HUMAN homeobox C5 32 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGGCCTCAGAGGTGCAGGCAT 0.542 49 58 --- --- --- --- PASS IFNG 3458 broad.mit.edu 37 12 68551865 68551865 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:68551865C>G uc001stw.1 - 3 320 c.194G>C c.(193-195)AGA>ACA p.R65T NM_000619 NP_000610 P01579 IFNG_HUMAN interferon, gamma precursor 65 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) CATTATTTTTCTGTCACTCTC 0.373 12 12 --- --- --- --- PASS UBE2N 7334 broad.mit.edu 37 12 93804845 93804845 + Silent SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:93804845A>G uc001tcp.2 - 2 627 c.261T>C c.(259-261)TGT>TGC p.C87C NM_003348 NP_003339 P61088 UBE2N_HUMAN ubiquitin-conjugating enzyme E2N 87 Glycyl thioester intermediate. C->A: Loss of polyubiquitination of PCNA. Impairs interaction with SHPRH. DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex ATP binding|ubiquitin binding|ubiquitin-protein ligase activity 0 AAATATCTAAACATATTCTTC 0.323 Direct_reversal_of_damage|Rad6_pathway 15 41 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94697543 94697543 + Silent SNP T A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:94697543T>A uc001tdc.2 + 29 4647 c.4398T>A c.(4396-4398)ACT>ACA p.T1466T PLXNC1_uc010sut.1_Silent_p.T513T|PLXNC1_uc009zsv.2_Silent_p.T205T NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1466 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 AAGCACCAACTAATAAGCTTC 0.274 3 28 --- --- --- --- PASS FGD6 55785 broad.mit.edu 37 12 95602706 95602706 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:95602706T>C uc001tdp.3 - 2 2578 c.2354A>G c.(2353-2355)GAC>GGC p.D785G FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 785 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 TGCATCAGCGTCCTCCATGCT 0.463 12 104 --- --- --- --- PASS VEZT 55591 broad.mit.edu 37 12 95656769 95656769 + Missense_Mutation SNP G C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:95656769G>C uc001tdz.2 + 4 451 c.346G>C c.(346-348)GAT>CAT p.D116H VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Missense_Mutation_p.D68H|VEZT_uc001tdt.2_Missense_Mutation_p.D68H|VEZT_uc009zsz.1_Missense_Mutation_p.D116H|VEZT_uc001tdv.2_Missense_Mutation_p.D85H|VEZT_uc001tdw.1_Missense_Mutation_p.D68H|VEZT_uc009zta.1_Missense_Mutation_p.D68H NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 116 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 TGAGCTACTTGATCCCAGTAT 0.458 5 186 --- --- --- --- PASS C12orf63 374467 broad.mit.edu 37 12 97093757 97093757 + Silent SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:97093757C>A uc001tet.1 + 13 1713 c.1635C>A c.(1633-1635)GTC>GTA p.V545V NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 545 skin(6)|ovary(1) 7 AGATAGAAGTCCTTATAGATT 0.313 21 49 --- --- --- --- PASS ISCU 23479 broad.mit.edu 37 12 108960978 108960978 + Silent SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:108960978T>C uc010sxc.1 + 4 457 c.352T>C c.(352-354)TTG>CTG p.L118L ISCU_uc010sxa.1_Silent_p.L118L|ISCU_uc010sxb.1_Silent_p.L118L|ISCU_uc001tnc.3_Silent_p.L93L|ISCU_uc009zuy.2_Silent_p.L93L|ISCU_uc010sxd.1_Silent_p.L118L NM_213595 NP_998760 Q9H1K1 ISCU_HUMAN iron-sulfur cluster assembly enzyme isoform 118 iron-sulfur cluster assembly|nitrogen fixation cytosol|mitochondrion|nucleus iron ion binding|iron-sulfur cluster binding|protein complex scaffold 0 GGAGGAAGCCTTGACTATCAA 0.498 5 152 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124311350 124311350 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:124311350C>T uc001uft.3 + 24 3967 c.3942C>T c.(3940-3942)GGC>GGT p.G1314G NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1314 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) CAGTCCGTGGCTTATCAGTGA 0.458 60 83 --- --- --- --- PASS GLT1D1 144423 broad.mit.edu 37 12 129431905 129431905 + Nonsense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:129431905G>T uc010tbh.1 + 11 706 c.697G>T c.(697-699)GGA>TGA p.G233* GLT1D1_uc001uhx.1_Nonsense_Mutation_p.G148*|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 228 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) ACGATTGATTGGAGAGATGCC 0.512 9 65 --- --- --- --- PASS FZD10 11211 broad.mit.edu 37 12 130649114 130649114 + Missense_Mutation SNP A T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr12:130649114A>T uc001uii.2 + 1 2083 c.1627A>T c.(1627-1629)AGC>TGC p.S543C uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 543 Cytoplasmic (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) AAAGAAGAAGAGCCGGAGAAA 0.552 28 42 --- --- --- --- PASS TUBA3C 7278 broad.mit.edu 37 13 19751242 19751242 + Missense_Mutation SNP G C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr13:19751242G>C uc009zzj.2 - 4 930 c.881C>G c.(880-882)GCC>GGC p.A294G NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 294 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CTCGAAGCAGGCATTGGTGAT 0.612 7 178 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29599515 29599515 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr13:29599515C>A uc001usl.3 + 1 768 c.710C>A c.(709-711)GCA>GAA p.A237E NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 227 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 GCTGTCCCGGCAGCTTTCCCT 0.582 24 38 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35769999 35769999 + Splice_Site SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr13:35769999A>G uc001uvb.2 + 31 5134 c.4928_splice c.e31-2 p.E1643_splice NBEA_uc010abi.2_Splice_Site_p.E299_splice NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTTTCATTACAGAAACACCTG 0.308 24 47 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77743836 77743836 + Silent SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr13:77743836T>C uc001vkf.2 - 40 5785 c.5694A>G c.(5692-5694)CCA>CCG p.P1898P MYCBP2_uc010aev.2_Silent_p.P1302P NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1898 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCAGCAGTTCTGGAATGTCAT 0.383 33 35 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109365035 109365035 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr13:109365035G>T uc001vqt.1 + 3 379 c.253G>T c.(253-255)GAC>TAC p.D85Y MYO16_uc010agk.1_Missense_Mutation_p.D107Y NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 85 ANK 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GGAGGGGGCAGACCCCCACAC 0.567 43 76 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19553578 19553578 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr14:19553578G>A uc001vuz.1 + 1 214 c.162G>A c.(160-162)ATG>ATA p.M54I POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 54 ovary(1) 1 ATTCTGCTATGAAGACACTCA 0.617 52 561 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20249408 20249408 + Silent SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr14:20249408G>A uc010tku.1 + 1 927 c.927G>A c.(925-927)TTG>TTA p.L309L NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AATATATTTTGTGTGAAGAGA 0.343 9 15 --- --- --- --- PASS MMP14 4323 broad.mit.edu 37 14 23313949 23313949 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr14:23313949T>C uc001whc.2 + 8 1495 c.1261T>C c.(1261-1263)TGG>CGG p.W421R NM_004995 NP_004986 P50281 MMP14_HUMAN matrix metalloproteinase 14 preproprotein 421 Hemopexin-like 3.|Extracellular (Potential). extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TGCTCTCTTCTGGATGCCCAA 0.547 6 148 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23855298 23855298 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr14:23855298C>A uc001wjv.2 - 34 5069 c.5002G>T c.(5002-5004)GAC>TAC p.D1668Y NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1668 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCCTTCAGGTCGTCGTTGGCA 0.642 27 41 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60193847 60193847 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr14:60193847G>T uc001xen.1 - 3 1764 c.1555C>A c.(1555-1557)CCG>ACG p.P519T RTN1_uc001xem.1_Missense_Mutation_p.P99T NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 519 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) AAGGAACCCGGCTCGGCCAGG 0.721 7 8 --- --- --- --- PASS EXD2 55218 broad.mit.edu 37 14 69704299 69704299 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr14:69704299G>A uc001xkt.2 + 10 1584 c.925G>A c.(925-927)GTG>ATG p.V309M EXD2_uc001xku.2_Missense_Mutation_p.V179M|EXD2_uc001xkv.2_Missense_Mutation_p.V434M|EXD2_uc001xkw.2_Missense_Mutation_p.V309M|EXD2_uc010aqt.2_Missense_Mutation_p.V434M|EXD2_uc010tte.1_Missense_Mutation_p.V434M|EXD2_uc001xky.2_Missense_Mutation_p.V309M NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 309 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 CAGGAAGAACGTGATTCCACA 0.547 30 44 --- --- --- --- PASS ACOT2 10965 broad.mit.edu 37 14 74036246 74036246 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr14:74036246G>T uc001xon.3 + 1 475 c.302G>T c.(301-303)CGC>CTC p.R101L ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron NM_006821 NP_006812 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 101 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) GCGTCCCTGCGCGACGAGAAG 0.746 6 10 --- --- --- --- PASS STON2 85439 broad.mit.edu 37 14 81744701 81744701 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr14:81744701C>T uc010tvu.1 - 4 1155 c.954G>A c.(952-954)GAG>GAA p.E318E STON2_uc001xvk.1_Silent_p.E318E|STON2_uc010tvt.1_Silent_p.E115E NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 318 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) CCTGCAGAGTCTCATTCAGGA 0.502 5 101 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86124576 86124576 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr15:86124576G>T uc002blv.1 + 7 3447 c.3277G>T c.(3277-3279)GGG>TGG p.G1093W AKAP13_uc002blt.1_Missense_Mutation_p.G1093W|AKAP13_uc002blu.1_Missense_Mutation_p.G1093W|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1093 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GGATGTTACAGGGGTTAATGC 0.478 51 75 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100339924 100339924 + RNA SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr15:100339924G>A uc010urx.1 - 4 c.1003C>T C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|uc002bvq.2_5'Flank|uc002bvt.1_5'Flank NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 GCCTCTTTCAGCACGTGGTGC 0.632 17 27 --- --- --- --- PASS EEF2K 29904 broad.mit.edu 37 16 22261999 22261999 + Nonsense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr16:22261999G>T uc002dki.2 + 5 918 c.433G>T c.(433-435)GAG>TAG p.E145* EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 145 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) AGCAATGAGGGAGTGCTTCCG 0.597 19 91 --- --- --- --- PASS EIF3CL 728689 broad.mit.edu 37 16 28734622 28734622 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr16:28734622G>T uc010byj.2 + 10 1006 c.917G>T c.(916-918)CGG>CTG p.R306L uc010vct.1_Intron|EIF3CL_uc010byi.2_Missense_Mutation_p.R305L|EIF3CL_uc002dqs.3_Missense_Mutation_p.R305L|EIF3C_uc002dqt.3_Missense_Mutation_p.R305L|EIF3CL_uc010vcy.1_Missense_Mutation_p.R295L|EIF3C_uc002dqu.3_Missense_Mutation_p.R305L|EIF3CL_uc002dqv.3_Missense_Mutation_p.R51L NM_001099661 NP_001093131 B5ME19 B5ME19_HUMAN eukaryotic translation initiation factor 3, 306 eukaryotic translation initiation factor 3 complex translation initiation factor activity 0 GAAAGGGTCCGGGGCGGAGTG 0.537 102 481 --- --- --- --- PASS USP10 9100 broad.mit.edu 37 16 84778370 84778370 + Missense_Mutation SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr16:84778370A>G uc002fii.2 + 4 425 c.283A>G c.(283-285)ACA>GCA p.T95A USP10_uc010voe.1_Missense_Mutation_p.T99A|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR NM_005153 NP_005144 Q14694 UBP10_HUMAN ubiquitin specific protease 10 95 Interaction with p53/TP53. DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 TCTCGGTTGTACAGCTTCCAA 0.498 5 101 --- --- --- --- PASS CA5A 763 broad.mit.edu 37 16 87960490 87960490 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr16:87960490G>T uc002fkn.1 - 2 260 c.204C>A c.(202-204)AAC>AAA p.N68K NM_001739 NP_001730 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial precursor 68 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0513) TCCACTGGATGTTAATAGGAG 0.607 6 18 --- --- --- --- PASS FXR2 9513 broad.mit.edu 37 17 7504844 7504844 + Splice_Site SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr17:7504844C>T uc002gia.1 - 7 771 c.544_splice c.e7-1 p.S182_splice FXR2_uc010vud.1_Splice_Site_p.S182_splice NM_004860 NP_004851 P51116 FXR2_HUMAN fragile X mental retardation syndrome related cytosolic large ribosomal subunit protein binding|RNA binding p.?(1) 0 READ - Rectum adenocarcinoma(115;0.17) CTGTGGTTGACTGGGAGGAAA 0.502 38 152 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Nonsense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr17:7577127C>A uc002gim.2 - 8 1005 c.811G>T c.(811-813)GAG>TAG p.E271* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E271*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E139*|TP53_uc010cng.1_Nonsense_Mutation_p.E139*|TP53_uc002gii.1_Nonsense_Mutation_p.E139*|TP53_uc010cnh.1_Nonsense_Mutation_p.E271*|TP53_uc010cni.1_Nonsense_Mutation_p.E271*|TP53_uc002gij.2_Nonsense_Mutation_p.E271* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 271 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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) ACACGCACCTCAAAGCTGTTC 0.537 111 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) 7 19 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10400460 10400460 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr17:10400460G>T uc002gmo.2 - 33 4676 c.4582C>A c.(4582-4584)CAT>AAT p.H1528N uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1528 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCCAGTTCATGGATGCGCTTT 0.373 17 37 --- --- --- --- PASS WSB1 26118 broad.mit.edu 37 17 25637137 25637137 + Missense_Mutation SNP G C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr17:25637137G>C uc002gzd.1 + 7 1251 c.935G>C c.(934-936)CGG>CCG p.R312P WSB1_uc002gze.1_Missense_Mutation_p.R166P|WSB1_uc002gzf.1_RNA NM_015626 NP_056441 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box-containing 1 isoform 1 312 WD 6. intracellular signal transduction intracellular protein binding 0 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCAAATGACCGGTGGGTACGA 0.418 5 107 --- --- --- --- PASS EFCAB5 374786 broad.mit.edu 37 17 28419089 28419089 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr17:28419089C>T uc002het.2 + 21 4330 c.4138C>T c.(4138-4140)CGT>TGT p.R1380C EFCAB5_uc010cse.2_Missense_Mutation_p.R1135C|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 1380 calcium ion binding ovary(1)|skin(1) 2 GAAACTAGTGCGTGACATCCT 0.388 24 48 --- --- --- --- PASS NSF 4905 broad.mit.edu 37 17 44806225 44806225 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr17:44806225C>T uc002iku.2 + 17 1937 c.1833C>T c.(1831-1833)TAC>TAT p.Y611Y NSF_uc010wke.1_Silent_p.Y517Y|NSF_uc010wkf.1_Silent_p.Y517Y|NSF_uc010wkg.1_Silent_p.Y606Y NM_006178 NP_006169 P46459 NSF_HUMAN vesicle-fusing ATPase 611 protein transport|synaptic transmission cytosol ATP binding|metal ion binding ovary(1) 1 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) TTCCAGATTACGTCCCTATTG 0.318 8 27 --- --- --- --- PASS PSMD12 5718 broad.mit.edu 37 17 65353488 65353488 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr17:65353488C>T uc002jfy.2 - 3 314 c.228G>A c.(226-228)GAG>GAA p.E76E PSMD12_uc002jga.2_Silent_p.E56E|PSMD12_uc002jfz.2_Silent_p.E17E|PSMD12_uc010det.1_Silent_p.E76E NM_002816 NP_002807 O00232 PSD12_HUMAN proteasome 26S non-ATPase subunit 12 isoform 1 76 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding 0 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) ATTCTTTAGCCTCATAGCACA 0.368 7 79 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67170799 67170799 + Silent SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr17:67170799G>A uc010dfa.1 - 25 3876 c.2997C>T c.(2995-2997)TAC>TAT p.Y999Y ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 999 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) ATATGAAGTAGTAAATTAAAT 0.363 15 63 --- --- --- --- PASS PGS1 9489 broad.mit.edu 37 17 76400029 76400029 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr17:76400029G>T uc002jvm.2 + 7 1273 c.1261G>T c.(1261-1263)GCC>TCC p.A421S PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.A134S|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.A134S NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 421 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) CTTCTTTGGGGCCAAGGGGGT 0.617 11 159 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76446779 76446779 + Silent SNP G A A rs138142447 TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr17:76446779G>A uc010dhp.1 - 12 2106 c.1884C>T c.(1882-1884)AGC>AGT p.S628S DNAH17_uc002jvq.2_5'Flank|DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCTCGATCTCGCTGGCTGTGT 0.642 21 17 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3879555 3879555 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr18:3879555C>T uc002kmf.2 - 1 581 c.514G>A c.(514-516)GAG>AAG p.E172K DLGAP1_uc010wyz.1_Missense_Mutation_p.E172K|DLGAP1_uc002kmk.2_Missense_Mutation_p.E172K|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 172 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GCCTGCGCCTCGTCAGGGCTG 0.711 36 188 --- --- --- --- PASS TMEM200C 645369 broad.mit.edu 37 18 5891759 5891759 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr18:5891759C>T uc002kmx.1 - 1 345 c.304G>A c.(304-306)GCC>ACC p.A102T NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 102 integral to membrane 0 CTGCTGTTGGCCGTGGTTGGG 0.697 4 104 --- --- --- --- PASS PIAS2 9063 broad.mit.edu 37 18 44416462 44416462 + Missense_Mutation SNP T A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr18:44416462T>A uc002lck.2 - 9 1218 c.1060A>T c.(1060-1062)ACA>TCA p.T354S PIAS2_uc010dnp.2_Missense_Mutation_p.T52S|PIAS2_uc002lcl.2_Missense_Mutation_p.T354S|PIAS2_uc010xda.1_Missense_Mutation_p.T52S|PIAS2_uc002lcm.2_Missense_Mutation_p.T354S|PIAS2_uc002lcn.1_Missense_Mutation_p.T358S NM_004671 NP_004662 O75928 PIAS2_HUMAN protein inhibitor of activated STAT X isoform 354 SP-RING-type. androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding ovary(2)|breast(1)|skin(1) 4 CATGGGATTGTCAGCCTCATT 0.438 19 34 --- --- --- --- PASS TCEB3B 51224 broad.mit.edu 37 18 44561068 44561068 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr18:44561068C>A uc002lcr.1 - 1 921 c.568G>T c.(568-570)GGG>TGG p.G190W KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 190 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GGTTGCTTCCCGGGCGCAGCG 0.701 4 59 --- --- --- --- PASS LIPG 9388 broad.mit.edu 37 18 47108800 47108800 + Missense_Mutation SNP T C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr18:47108800T>C uc002ldv.2 + 7 1357 c.1105T>C c.(1105-1107)TAC>CAC p.Y369H LIPG_uc010xdh.1_Missense_Mutation_p.Y295H NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 369 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 GCCCACCTTTTACGTCACCCT 0.448 16 100 --- --- --- --- PASS DCAF15 90379 broad.mit.edu 37 19 14070631 14070631 + Missense_Mutation SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:14070631A>G uc002mxt.2 + 9 1370 c.1364A>G c.(1363-1365)AAT>AGT p.N455S DCAF15_uc002mxu.2_RNA NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 455 central_nervous_system(1) 1 TATGTTATCAATGAGGTCATC 0.607 OREG0025301 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 76 --- --- --- --- PASS CYP4F11 57834 broad.mit.edu 37 19 16034683 16034683 + Missense_Mutation SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:16034683A>G uc002nbu.2 - 7 893 c.857T>C c.(856-858)TTC>TCC p.F286S CYP4F11_uc010eab.1_Missense_Mutation_p.F286S|CYP4F11_uc002nbt.2_Missense_Mutation_p.F286S NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 286 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 GTTCTTGAGGAAATCATCAAT 0.537 80 151 --- --- --- --- PASS ANO8 57719 broad.mit.edu 37 19 17435528 17435528 + Nonsense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:17435528G>T uc002ngf.2 - 17 3488 c.3329C>A c.(3328-3330)TCA>TAA p.S1110* ANO8_uc010eap.2_RNA NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN anoctamin 8 1110 Extracellular (Potential). chloride channel complex chloride channel activity ovary(3) 3 CTTGTGACCTGAGCCTTCCTC 0.697 12 188 --- --- --- --- PASS ELL 8178 broad.mit.edu 37 19 18561418 18561418 + Missense_Mutation SNP C T T rs138181189 TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:18561418C>T uc002njh.2 - 8 1406 c.1334G>A c.(1333-1335)CGC>CAC p.R445H ELL_uc010ebq.2_Missense_Mutation_p.R388H|ELL_uc002njg.2_Missense_Mutation_p.R312H NM_006532 NP_006523 P55199 ELL_HUMAN elongation factor RNA polymerase II 445 Nuclear localization signal (Potential). positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding lung(1) 1 GBM - Glioblastoma multiforme(1328;7.81e-07) GGGCTTGCTGCGCGAGGGGCT 0.682 T MLL AL 4 45 --- --- --- --- PASS HNRNPL 3191 broad.mit.edu 37 19 39330862 39330862 + Silent SNP A G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:39330862A>G uc010xul.1 - 8 1118 c.1107T>C c.(1105-1107)CCT>CCC p.P369P HNRNPL_uc010ege.1_Silent_p.P25P|HNRNPL_uc002ojj.1_Silent_p.P25P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.P25P|HNRNPL_uc002ojl.2_Silent_p.P25P|HNRNPL_uc010xum.1_Silent_p.P236P|HNRNPL_uc002ojp.1_Silent_p.P25P|HNRNPL_uc010xun.1_Missense_Mutation_p.L77P NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 369 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GTGGTGGGGGAGGGGGTGGGG 0.622 4 18 --- --- --- --- PASS LGALS13 29124 broad.mit.edu 37 19 40097910 40097910 + Silent SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:40097910G>A uc002omb.2 + 4 391 c.351G>A c.(349-351)CCG>CCA p.P117P NM_013268 NP_037400 Q9UHV8 PP13_HUMAN galectin-13 117 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding ovary(1) 1 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) ATCGAATCCCGCCATCATTTG 0.448 30 77 --- --- --- --- PASS ERF 2077 broad.mit.edu 37 19 42754489 42754489 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:42754489G>A uc002ote.3 - 2 409 c.251C>T c.(250-252)GCC>GTC p.A84V ERF_uc002otd.3_5'UTR NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 84 ETS. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) TCACCGCAGGGCCCGGCTCAG 0.557 32 58 --- --- --- --- PASS EML2 24139 broad.mit.edu 37 19 46124521 46124521 + Missense_Mutation SNP T G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:46124521T>G uc002pcn.2 - 11 1101 c.1066A>C c.(1066-1068)ACC>CCC p.T356P EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.T240P|EML2_uc010xxl.1_Missense_Mutation_p.T503P|EML2_uc010xxm.1_Missense_Mutation_p.T557P|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.T356P|EML2_uc010ekj.2_Silent_p.P322P NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 356 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) GAATTGCGGGTGGTCCCCACG 0.498 13 72 --- --- --- --- PASS CD37 951 broad.mit.edu 37 19 49842048 49842048 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:49842048C>A uc002pnd.2 + 6 660 c.539C>A c.(538-540)TCC>TAC p.S180Y uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.S180Y|CD37_uc010yan.1_Missense_Mutation_p.S112Y|CD37_uc002pnf.3_Missense_Mutation_p.S152Y|CD37_uc002pne.2_Missense_Mutation_p.S112Y NM_001774 NP_001765 P11049 CD37_HUMAN CD37 antigen isoform A 180 Extracellular (Potential). integral to membrane 0 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) GTGCCCTGCTCCTGCTACAAC 0.622 40 91 --- --- --- --- PASS MYH14 79784 broad.mit.edu 37 19 50812387 50812387 + Silent SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:50812387G>T uc002prr.1 + 40 5837 c.5790G>T c.(5788-5790)TCG>TCT p.S1930S MYH14_uc010enu.1_Silent_p.S1971S|MYH14_uc002prq.1_Silent_p.S1938S|MYH14_uc010ycb.1_Silent_p.S281S|MYH14_uc002prs.1_Silent_p.S281S NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1930 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TCACAGAGTCGGCCGAGTCCA 0.642 20 103 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56419275 56419275 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:56419275G>T uc010ygg.1 - 7 2355 c.2330C>A c.(2329-2331)GCC>GAC p.A777D NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 777 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ACCCTGAAGGGCAATAATGAG 0.502 40 156 --- --- --- --- PASS VN1R1 57191 broad.mit.edu 37 19 57967296 57967296 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:57967296G>A uc002qos.1 - 1 559 c.559C>T c.(559-561)CTT>TTT p.L187F ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 187 Helical; Name=4; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) ACTAATAGAAGAACAGATGCA 0.398 6 72 --- --- --- --- PASS TRIM28 10155 broad.mit.edu 37 19 59061390 59061390 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr19:59061390C>T uc002qtg.1 + 15 2470 c.2181C>T c.(2179-2181)TCC>TCT p.S727S TRIM28_uc010eut.1_Silent_p.S645S|TRIM28_uc002qth.1_Silent_p.S342S NM_005762 NP_005753 Q13263 TIF1B_HUMAN tripartite motif-containing 28 protein 727 Bromo. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CTACCGACTCCACCTTCTCCC 0.498 12 52 --- --- --- --- PASS MCM8 84515 broad.mit.edu 37 20 5953813 5953813 + Missense_Mutation SNP C G G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr20:5953813C>G uc002wmi.2 + 12 1743 c.1366C>G c.(1366-1368)CCA>GCA p.P456A MCM8_uc002wmj.2_Missense_Mutation_p.P440A|MCM8_uc002wmk.2_Missense_Mutation_p.P496A|MCM8_uc002wml.2_Missense_Mutation_p.P456A|MCM8_uc010gbp.2_Intron|MCM8_uc002wmm.2_Translation_Start_Site NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 456 ATP (Potential).|MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 TGTTGGAGATCCAGGCCTAGG 0.403 28 69 --- --- --- --- PASS PLCB4 5332 broad.mit.edu 37 20 9417754 9417754 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr20:9417754C>T uc002wnf.2 + 28 2819 c.2683C>T c.(2683-2685)CCA>TCA p.P895S PLCB4_uc010gbw.1_Missense_Mutation_p.P895S|PLCB4_uc010gbx.2_Missense_Mutation_p.P907S|PLCB4_uc002wne.2_Missense_Mutation_p.P895S|PLCB4_uc002wnh.2_Missense_Mutation_p.P742S NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 895 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 TGAGCTCAGACCAACCACCAC 0.532 10 31 --- --- --- --- PASS KIF16B 55614 broad.mit.edu 37 20 16359697 16359697 + Missense_Mutation SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr20:16359697C>T uc002wpg.1 - 19 3108 c.2950G>A c.(2950-2952)GAA>AAA p.E984K KIF16B_uc002wpe.1_Missense_Mutation_p.E366K|KIF16B_uc002wpf.1_Missense_Mutation_p.E366K|KIF16B_uc010gch.1_Missense_Mutation_p.E984K|KIF16B_uc010gci.1_Missense_Mutation_p.E984K|KIF16B_uc010gcj.1_Missense_Mutation_p.E995K NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 984 Glu-rich.|Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 CTCACTTTTTCCTCCTGACGT 0.512 20 234 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20177230 20177230 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr20:20177230G>T uc002wru.2 + 16 1683 c.1607G>T c.(1606-1608)CGG>CTG p.R536L C20orf26_uc010zse.1_Missense_Mutation_p.R516L NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 536 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GAGTACATACGGTCCCATTAC 0.413 9 62 --- --- --- --- PASS DEFB118 117285 broad.mit.edu 37 20 29960893 29960893 + Missense_Mutation SNP A C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr20:29960893A>C uc002wvr.2 + 2 318 c.292A>C c.(292-294)AGC>CGC p.S98R NM_054112 NP_473453 Q96PH6 DB118_HUMAN beta-defensin 118 precursor 98 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region ovary(3)|pancreas(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGAAGTAAGCAGCAAGAAAGA 0.453 13 98 --- --- --- --- PASS DEFB118 117285 broad.mit.edu 37 20 29960894 29960894 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr20:29960894G>T uc002wvr.2 + 2 319 c.293G>T c.(292-294)AGC>ATC p.S98I NM_054112 NP_473453 Q96PH6 DB118_HUMAN beta-defensin 118 precursor 98 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region ovary(3)|pancreas(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GAAGTAAGCAGCAAGAAAGAT 0.453 13 98 --- --- --- --- PASS SAMHD1 25939 broad.mit.edu 37 20 35533876 35533876 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr20:35533876G>A uc002xgh.1 - 12 1431 c.1301C>T c.(1300-1302)ACT>ATT p.T434I SAMHD1_uc010gft.1_RNA NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 434 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) TTTGGGATCAGTAGAGTATAA 0.308 12 109 --- --- --- --- PASS R3HDML 140902 broad.mit.edu 37 20 42969953 42969953 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr20:42969953C>A uc002xls.1 + 2 551 c.379C>A c.(379-381)CAG>AAG p.Q127K NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 127 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CCATTCTGGCCAGTGAGTGAC 0.393 33 44 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57769077 57769077 + Silent SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr20:57769077G>A uc002yan.2 + 1 3003 c.3003G>A c.(3001-3003)GCG>GCA p.A1001A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1001 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CAGGTGAGGCGGACAGCATCC 0.647 28 36 --- --- --- --- PASS HUNK 30811 broad.mit.edu 37 21 33371224 33371224 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr21:33371224C>T uc002yph.2 + 11 2232 c.1872C>T c.(1870-1872)CAC>CAT p.H624H NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 624 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 CTTTTGCTCACGAAGATAAGA 0.582 16 32 --- --- --- --- PASS ZDHHC8 29801 broad.mit.edu 37 22 20128226 20128226 + Silent SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr22:20128226G>T uc002zrq.2 + 6 853 c.747G>T c.(745-747)GCG>GCT p.A249A ZDHHC8_uc002zrr.1_Silent_p.A249A|ZDHHC8_uc010gsa.2_Silent_p.A55A NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 249 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) GCCCCCTGGCGCCCCGGTGAG 0.672 12 22 --- --- --- --- PASS LZTR1 8216 broad.mit.edu 37 22 21348291 21348291 + Silent SNP C A A rs150365548 TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr22:21348291C>A uc002zto.2 + 13 1535 c.1432C>A c.(1432-1434)CGG>AGG p.R478R LZTR1_uc002ztn.2_Silent_p.R437R|LZTR1_uc011ahy.1_Silent_p.R459R|LZTR1_uc010gsr.1_Silent_p.R349R|LZTR1_uc002ztp.2_5'Flank NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 478 BTB 1. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CACGCAGGCGCGGGAGAGGCT 0.642 3 63 --- --- --- --- PASS NIPSNAP1 8508 broad.mit.edu 37 22 29956798 29956798 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr22:29956798G>A uc003afx.3 - 8 704 c.631C>T c.(631-633)CGG>TGG p.R211W NIPSNAP1_uc011akp.1_Missense_Mutation_p.R191W NM_003634 NP_003625 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 211 p.?(1) skin(1) 1 TTCTCCTGCCGGTACTTGATG 0.587 19 162 --- --- --- --- PASS MTMR8 55613 broad.mit.edu 37 X 63445290 63445290 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chrX:63445290C>A uc011mou.1 - 10 1434 c.1366G>T c.(1366-1368)GCT>TCT p.A456S ASB12_uc004dvp.1_Missense_Mutation_p.A72S|ASB12_uc004dvq.1_Missense_Mutation_p.A81S|ASB12_uc004dvr.1_Missense_Mutation_p.A81S NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 CCATAAGAAGCAGCCAAGCGC 0.527 5 13 --- --- --- --- PASS MSN 4478 broad.mit.edu 37 X 64956699 64956699 + Silent SNP G A A rs113359990 TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chrX:64956699G>A uc004dwf.2 + 9 1200 c.1002G>A c.(1000-1002)GAG>GAA p.E334E NM_002444 NP_002435 P26038 MOES_HUMAN moesin 334 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 aaatggcagagaaggagaaag 0.214 T ALK ALCL 2 2 --- --- --- --- PASS CENPI 2491 broad.mit.edu 37 X 100364557 100364557 + Missense_Mutation SNP G A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chrX:100364557G>A uc004egx.2 + 4 730 c.460G>A c.(460-462)GGC>AGC p.G154S CENPI_uc011mrg.1_Missense_Mutation_p.G154S|CENPI_uc004egy.2_Missense_Mutation_p.G154S NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 154 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 GCTTTGTGTTGGCAAGTGTTC 0.428 10 266 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123514710 123514710 + Silent SNP C T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chrX:123514710C>T uc004euj.2 - 31 7918 c.7854G>A c.(7852-7854)CGG>CGA p.R2618R ODZ1_uc011muj.1_Silent_p.R2624R|ODZ1_uc010nqy.2_Silent_p.R2625R NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2618 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 TATCTGCAAACCGTCTAGTCC 0.512 27 50 --- --- --- --- PASS BCORL1 63035 broad.mit.edu 37 X 129148208 129148208 + Missense_Mutation SNP A C C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chrX:129148208A>C uc004evb.1 + 4 1574 c.1460A>C c.(1459-1461)GAC>GCC p.D487A BCORL1_uc010nrd.1_Missense_Mutation_p.D389A NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 487 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TACCTGCAGGACAGGTGTCTC 0.602 7 103 --- --- --- --- PASS GABRQ 55879 broad.mit.edu 37 X 151821421 151821421 + Missense_Mutation SNP G T T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chrX:151821421G>T uc004ffp.1 + 9 1596 c.1576G>T c.(1576-1578)GGT>TGT p.G526C NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 526 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGGCGAGAAGGGTGTGCAAGA 0.527 18 16 --- --- --- --- PASS AVPR2 554 broad.mit.edu 37 X 153171312 153171312 + Missense_Mutation SNP C A A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chrX:153171312C>A uc004fjh.3 + 2 423 c.352C>A c.(352-354)CTG>ATG p.L118M AVPR2_uc004fjg.3_Intron|AVPR2_uc004fji.2_Missense_Mutation_p.L118M NM_000054 NP_000045 P30518 V2R_HUMAN arginine vasopressin receptor 2 isoform 1 118 Helical; Name=3; (Potential). activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) CGTGAAGTATCTGCAGATGGT 0.652 25 26 --- --- --- --- PASS KCNN3 3782 broad.mit.edu 37 1 154680513 154680513 + Frame_Shift_Del DEL C - - TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:154680513delC uc001ffp.2 - 8 2449 c.2135delG c.(2134-2136)AGCfs p.S712fs KCNN3_uc001ffo.2_Frame_Shift_Del_p.S407fs NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 717 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) CCCAATGGGGCTATCGGAGAT 0.592 157 89 --- --- --- --- SELP 6403 broad.mit.edu 37 1 169565276 169565276 + Frame_Shift_Del DEL C - - TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr1:169565276delC uc001ggi.3 - 12 2053 c.1988delG c.(1987-1989)GGTfs p.G663fs SELP_uc001ggh.2_Frame_Shift_Del_p.G498fs|SELP_uc009wvr.2_Frame_Shift_Del_p.G663fs NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 663 Extracellular (Potential).|Sushi 8. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GGTATTAAAACCAAAGGTTCC 0.512 184 106 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96993095 96993095 + Frame_Shift_Del DEL C - - TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr2:96993095delC uc002svx.2 + 3 1061 c.726delC c.(724-726)GTCfs p.V242fs ITPRIPL1_uc010yuk.1_Frame_Shift_Del_p.V234fs|ITPRIPL1_uc002svy.2_Frame_Shift_Del_p.V250fs|ITPRIPL1_uc010yul.1_Frame_Shift_Del_p.V234fs NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 242 Cytoplasmic (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 TGCCCATTGTCCCCCCACAGG 0.587 41 20 --- --- --- --- TAS2R5 54429 broad.mit.edu 37 7 141491042 141491042 + Frame_Shift_Del DEL G - - rs2234016 byFrequency TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6aecd71e-84f1-4b4d-bff6-ede33026f58b e94dbec9-5564-4154-8da0-7ce1fc53da82 g.chr7:141491042delG uc003vwr.1 + 1 1026 c.881delG c.(880-882)CGGfs p.R294fs NM_018980 NP_061853 Q9NYW4 TA2R5_HUMAN taste receptor T2R5 294 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste taste receptor activity 0 Melanoma(164;0.0171) GTGTGTGCTCGGAGATGCTGG 0.488 219 98 --- --- --- ---