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 CCDC27 148870 broad.mit.edu 37 1 3680356 3680356 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:3680356G>A uc001akv.2 + 8 1489 c.1408G>A c.(1408-1410)GAG>AAG p.E470K NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 470 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GCTGCAGAAGGAGCTCCGAGA 0.567 38 74 --- --- --- --- PASS NPHP4 261734 broad.mit.edu 37 1 5923438 5923438 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:5923438C>A uc001alq.1 - 30 4434 c.4168G>T c.(4168-4170)GGC>TGC p.G1390C NPHP4_uc001alr.1_3'UTR NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 1390 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) AACTGCAAGCCGATGGTGTAG 0.542 61 140 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34006908 34006908 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:34006908G>T uc001bxn.1 - 58 8876 c.8847C>A c.(8845-8847)GTC>GTA p.V2949V CSMD2_uc001bxm.1_Silent_p.V3093V NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2949 Sushi 21.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACAGTTTATGACTAGGATAA 0.493 29 64 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74957880 74957880 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:74957880G>T uc001dgf.1 + 23 2332 c.2281G>T c.(2281-2283)GCA>TCA p.A761S TNNI3K_uc001dge.1_Missense_Mutation_p.A862S NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 761 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 GAGTCATGTGGCAGCATTAAG 0.478 59 322 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037835 75037835 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:75037835C>A uc001dgg.2 - 14 3778 c.3559G>T c.(3559-3561)GAC>TAC p.D1187Y NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1187 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGCTCTGTGTCTCTGGCTTCA 0.527 114 274 --- --- --- --- PASS HFM1 164045 broad.mit.edu 37 1 91859730 91859730 + Silent SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:91859730A>T uc001doa.3 - 4 514 c.414T>A c.(412-414)CCT>CCA p.P138P HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Silent_p.P138P NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 138 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CACTCTTCTCAGGTGCTATCT 0.333 54 137 --- --- --- --- PASS LPPR4 9890 broad.mit.edu 37 1 99772498 99772498 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:99772498A>T uc001dse.2 + 7 2330 c.2224A>T c.(2224-2226)AAC>TAC p.N742Y LPPR4_uc010oue.1_Missense_Mutation_p.N684Y NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 742 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TGAAAGAAGCAACAGCCCCGA 0.493 19 170 --- --- --- --- PASS VCAM1 7412 broad.mit.edu 37 1 101203708 101203708 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:101203708C>G uc001dti.2 + 9 2209 c.2089C>G c.(2089-2091)CCT>GCT p.P697A VCAM1_uc001dtj.2_Missense_Mutation_p.P605A|VCAM1_uc010ouj.1_Missense_Mutation_p.P635A NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 697 Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTATTTTTCTCCTGAGCTTCT 0.333 110 268 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103488298 103488298 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:103488298G>T uc001dul.2 - 8 1563 c.1245C>A c.(1243-1245)AGC>AGA p.S415R COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.S427R|COL11A1_uc001dun.2_Missense_Mutation_p.S376R|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 415 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATCAACTTACGCTTGTTTCTG 0.333 21 169 --- --- --- --- PASS OVGP1 5016 broad.mit.edu 37 1 111969180 111969180 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:111969180C>A uc001eba.2 - 3 195 c.139G>T c.(139-141)GAC>TAC p.D47Y OVGP1_uc001eaz.2_5'UTR|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.D37Y NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 47 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) AGAAAGGGGTCCAGGTCATGG 0.512 16 101 --- --- --- --- PASS OVGP1 5016 broad.mit.edu 37 1 111969196 111969196 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:111969196G>C uc001eba.2 - 3 179 c.123C>G c.(121-123)ATC>ATG p.I41M OVGP1_uc001eaz.2_Translation_Start_Site|OVGP1_uc010owb.1_Translation_Start_Site|OVGP1_uc010owc.1_Missense_Mutation_p.I31M NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 41 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CATGGGGCAAGATCGAGGCAG 0.507 16 87 --- --- --- --- PASS LRIG2 9860 broad.mit.edu 37 1 113657152 113657152 + Silent SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:113657152C>T uc001edf.1 + 15 2382 c.2184C>T c.(2182-2184)AAC>AAT p.N728N LRIG2_uc009wgn.1_Silent_p.N625N NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 728 Ig-like C2-type 3.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) CTCGTCTCAACTGGACTAAAG 0.502 65 115 --- --- --- --- PASS SYT6 148281 broad.mit.edu 37 1 114640424 114640424 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:114640424G>T uc001eev.2 - 6 1435 c.1185C>A c.(1183-1185)AAC>AAA p.N395K SYT6_uc001eeu.2_Missense_Mutation_p.N40K NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 480 Cytoplasmic (Potential). acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAGCATCTCGTTCCAGTGGT 0.572 21 134 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 145075747 145075747 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:145075747G>T uc001emh.2 - 1 333 c.116C>A c.(115-117)ACC>AAC p.T39N NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.T39N|PDE4DIP_uc001emk.2_Missense_Mutation_p.T39N NM_022359 NP_071754 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 713 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGACTGAGGGGTTCGCGTCGC 0.736 T PDGFRB MPD 9 154 --- --- --- --- PASS HIST2H2BE 8349 broad.mit.edu 37 1 149858030 149858030 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:149858030C>T uc001etc.2 - 1 203 c.161G>A c.(160-162)GGC>GAC p.G54D HIST2H2AC_uc001etd.2_5'Flank NM_003528 NP_003519 Q16778 H2B2E_HUMAN histone cluster 2, H2be 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GGACGAGATGCCGGTGTCGGG 0.587 7 485 --- --- --- --- PASS SEMA6C 10500 broad.mit.edu 37 1 151109545 151109545 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:151109545C>A uc001ewu.2 - 11 1062 c.762G>T c.(760-762)CAG>CAT p.Q254H SEMA6C_uc001ewv.2_Missense_Mutation_p.Q254H|SEMA6C_uc001eww.2_Missense_Mutation_p.Q214H|SEMA6C_uc010pcq.1_Missense_Mutation_p.Q254H|SEMA6C_uc009wml.1_RNA NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 254 Extracellular (Potential).|Sema. integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGCGGGAGAACTGCACCTAGG 0.567 44 121 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156642911 156642911 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:156642911G>C uc001fpq.2 - 4 1202 c.1069C>G c.(1069-1071)CCC>GCC p.P357A NM_006617 NP_006608 P48681 NEST_HUMAN nestin 357 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AAGGGTGAGGGGAGGGAAGTT 0.597 35 115 --- --- --- --- PASS FCRL4 83417 broad.mit.edu 37 1 157559034 157559034 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:157559034G>A uc001fqw.2 - 3 403 c.267C>T c.(265-267)GGC>GGT p.G89G FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 89 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TTCGTGGGGAGCCCCGGGCCT 0.498 8 203 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157665949 157665949 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:157665949G>T uc001frb.2 - 7 1305 c.1013C>A c.(1012-1014)TCC>TAC p.S338Y FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.S338Y|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.S64Y|FCRL3_uc001frc.1_Missense_Mutation_p.S338Y NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 338 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TGCCAACAGGGAACGCTGGGT 0.527 52 118 --- --- --- --- PASS FCRL2 79368 broad.mit.edu 37 1 157739847 157739847 + Missense_Mutation SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:157739847T>C uc001fre.2 - 4 463 c.404A>G c.(403-405)CAG>CGG p.Q135R FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.Q135R|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.Q135R NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 135 Extracellular (Potential).|Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATCCAACCTCTGTGGAGAGAG 0.567 32 82 --- --- --- --- PASS ATP1A4 480 broad.mit.edu 37 1 160147346 160147346 + Silent SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:160147346T>C uc001fve.3 + 18 3107 c.2628T>C c.(2626-2628)TTT>TTC p.F876F ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.F379F|ATP1A4_uc001fvh.2_Silent_p.F12F NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 876 Extracellular (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTACCTACTTTGTAATCCTGG 0.522 38 117 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171510562 171510562 + Silent SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:171510562G>C uc010pmg.1 + 16 4217 c.3951G>C c.(3949-3951)CTG>CTC p.L1317L BAT2L2_uc010pmh.1_Silent_p.L294L NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 1317 protein C-terminus binding 0 ATAATAGACTGCTAGAAAAGC 0.433 27 57 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175049351 175049351 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:175049351G>T uc001gkl.1 + 4 950 c.837G>T c.(835-837)CTG>CTT p.L279L TNN_uc010pmx.1_Silent_p.L279L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 279 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ATTCTCTGCTGGTGAGCTGGG 0.617 34 76 --- --- --- --- PASS RALGPS2 55103 broad.mit.edu 37 1 178885490 178885490 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:178885490A>G uc001glz.2 + 20 2086 c.1748A>G c.(1747-1749)GAG>GGG p.E583G RALGPS2_uc010pnb.1_Missense_Mutation_p.E557G NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 583 Required for stimulation of nucleotide exchange by RALA (By similarity). small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding 0 ATGACTTTTGAGTAGAAGCCT 0.363 14 62 --- --- --- --- PASS XPR1 9213 broad.mit.edu 37 1 180775220 180775220 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:180775220G>T uc001goi.2 + 5 662 c.470G>T c.(469-471)CGA>CTA p.R157L XPR1_uc009wxm.2_Missense_Mutation_p.R157L|XPR1_uc009wxn.2_Missense_Mutation_p.R157L NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 157 SPX.|Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 ACAGGGTTTCGAAAAATCCTG 0.378 34 89 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181549812 181549812 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:181549812G>T uc001gow.2 + 6 1016 c.851G>T c.(850-852)GGC>GTC p.G284V CACNA1E_uc009wxr.2_Missense_Mutation_p.G191V|CACNA1E_uc009wxs.2_Missense_Mutation_p.G191V NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 284 I.|Extracellular (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GACTGGATCGGCCCCAATGAT 0.517 79 191 --- --- --- --- PASS CACNA1S 779 broad.mit.edu 37 1 201036078 201036078 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:201036078C>T uc001gvv.2 - 20 2821 c.2594G>A c.(2593-2595)CGC>CAC p.R865H NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 865 III.|Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GAAGTAATTGCGGCAGAAGGA 0.602 13 48 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216073560 216073560 + Splice_Site SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:216073560C>T uc001hku.1 - 40 7839 c.7452_splice c.e40-1 p.E2484_splice NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGAAAATAACCTGTATGGGAA 0.348 HNSCC(13;0.011) 44 104 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216143994 216143994 + Silent SNP C T T rs146406377 byFrequency TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:216143994C>T uc001hku.1 - 36 7317 c.6930G>A c.(6928-6930)ACG>ACA p.T2310T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2310 Fibronectin type-III 9.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AACCTTTGGCCGTGCATGCTT 0.408 HNSCC(13;0.011) 47 136 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228471378 228471378 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:228471378G>C uc009xez.1 + 33 8956 c.8912G>C c.(8911-8913)CGG>CCG p.R2971P OBSCN_uc001hsn.2_Missense_Mutation_p.R2971P|OBSCN_uc001hsp.1_Missense_Mutation_p.R670P|OBSCN_uc001hsq.1_Missense_Mutation_p.R227P NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2971 Ig-like 29. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CTGACCCTGCGGCTCACCATC 0.672 25 40 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228480222 228480222 + Splice_Site SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:228480222A>T uc009xez.1 + 40 10648 c.10604_splice c.e40-2 p.A3535_splice OBSCN_uc001hsn.2_Splice_Site_p.A3535_splice|OBSCN_uc001hsq.1_Splice_Site_p.A791_splice NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGTCCTTCCCAGCTCTGCCTG 0.572 33 94 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241099992 241099992 + Silent SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:241099992A>G uc001hyv.2 - 5 571 c.241T>C c.(241-243)TTG>CTG p.L81L RGS7_uc010pyh.1_Silent_p.L55L|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Silent_p.L81L|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Silent_p.L81L NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 81 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) AATGTTCCCAAATGGAGCGCC 0.383 30 66 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248112521 248112521 + Missense_Mutation SNP G T T rs148005952 byFrequency TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:248112521G>T uc001idt.1 + 1 362 c.362G>T c.(361-363)CGT>CTT p.R121L OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GCCTATGATCGTTACATTGCT 0.443 122 334 --- --- --- --- PASS OR2AK2 391191 broad.mit.edu 37 1 248129478 248129478 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:248129478C>G uc010pzd.1 + 1 845 c.845C>G c.(844-846)TCC>TGC p.S282C OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 282 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCCTTGCGTTCCCCTTCACGG 0.498 46 108 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343459 248343459 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:248343459C>A uc010pzf.1 + 1 172 c.172C>A c.(172-174)CCC>ACC p.P58T NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 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;0.0245) GCTCCACACCCCCATGTACTT 0.537 203 478 --- --- --- --- PASS SNTG2 54221 broad.mit.edu 37 2 1161234 1161234 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:1161234G>T uc002qwq.2 + 7 540 c.412G>T c.(412-414)GTG>TTG p.V138L SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 138 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) ATATTGACAGGTGCATCTGCT 0.428 22 61 --- --- --- --- PASS PUM2 23369 broad.mit.edu 37 2 20494185 20494185 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:20494185G>T uc002rds.1 - 8 1127 c.1104C>A c.(1102-1104)AAC>AAA p.N368K PUM2_uc002rdt.1_Missense_Mutation_p.N368K|PUM2_uc002rdr.2_Missense_Mutation_p.N307K|PUM2_uc010yjy.1_Missense_Mutation_p.N368K|PUM2_uc002rdu.1_Missense_Mutation_p.N368K|PUM2_uc010yjz.1_Missense_Mutation_p.N307K NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 368 Ala-rich.|Gln-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACTGGCTGTGTTATTTGCCG 0.483 23 122 --- --- --- --- PASS CCDC121 79635 broad.mit.edu 37 2 27849963 27849963 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:27849963C>A uc002rle.2 - 2 885 c.704G>T c.(703-705)TGG>TTG p.W235L ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.W399L|CCDC121_uc002rld.2_Missense_Mutation_p.W397L|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank NM_024584 NP_078860 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 isoform 3 235 Potential. 0 Acute lymphoblastic leukemia(172;0.155) CTCCAGATACCACTGTTCCTG 0.478 4 167 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32667235 32667235 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:32667235G>C uc010ezu.2 + 18 4181 c.4047G>C c.(4045-4047)CAG>CAC p.Q1349H NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1349 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) AACATGCCCAGAGCCTTGTGT 0.398 82 82 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746750 77746750 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:77746750G>A uc002snr.2 - 3 660 c.245C>T c.(244-246)GCC>GTC p.A82V LRRTM4_uc002snq.2_Missense_Mutation_p.A82V|LRRTM4_uc002sns.2_Missense_Mutation_p.A82V|LRRTM4_uc002snt.2_Missense_Mutation_p.A83V NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 82 LRR 1.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GTTAAGGCCGGCAAACTGATT 0.403 4 167 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89292050 89292050 + RNA SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:89292050G>C uc010ytr.1 - 82 c.7156C>G uc002stl.2_Intron Parts of antibodies, mostly variable regions. ACCCCACTTTGCAAAGTGGAT 0.493 108 190 --- --- --- --- PASS INPP4A 3631 broad.mit.edu 37 2 99185132 99185132 + Splice_Site SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:99185132G>T uc002syy.2 + 23 2926 c.2533_splice c.e23+1 p.C845_splice INPP4A_uc010yvj.1_Splice_Site_p.C806_splice|INPP4A_uc010yvk.1_Splice_Site_p.C806_splice|INPP4A_uc002syx.2_Splice_Site_p.C840_splice|INPP4A_uc010fik.2_Splice_Site_p.C174_splice NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 CCTGAGGATTGTAAGTATTTC 0.433 3 18 --- --- --- --- PASS IL18RAP 8807 broad.mit.edu 37 2 103068286 103068286 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:103068286G>A uc002tbx.2 + 12 1929 c.1445G>A c.(1444-1446)AGC>AAC p.S482N IL18RAP_uc010fiz.2_Missense_Mutation_p.S340N NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 482 TIR.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 TTTATCTTGAGCCCCAACTAT 0.348 62 207 --- --- --- --- PASS SULT1C2 6819 broad.mit.edu 37 2 108921151 108921151 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:108921151G>A uc002tdy.2 + 5 950 c.497G>A c.(496-498)GGA>GAA p.G166E SULT1C2_uc010ywp.1_Missense_Mutation_p.G81E|SULT1C2_uc002tdx.2_Missense_Mutation_p.G177E|SULT1C2_uc010ywq.1_Missense_Mutation_p.G180E NM_001056 NP_001047 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 1 166 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity ovary(1) 1 TTCATCAATGGAAAAGGTACG 0.478 61 154 --- --- --- --- PASS ANAPC1 64682 broad.mit.edu 37 2 112550114 112550114 + Nonsense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:112550114C>A uc002thi.2 - 38 4784 c.4537G>T c.(4537-4539)GAA>TAA p.E1513* NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1513 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 AGACAAGTTTCTAGGTTATGA 0.438 42 97 --- --- --- --- PASS MARCO 8685 broad.mit.edu 37 2 119727695 119727695 + Missense_Mutation SNP A C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:119727695A>C uc002tln.1 + 3 337 c.205A>C c.(205-207)AAT>CAT p.N69H MARCO_uc010yyf.1_5'UTR NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 69 Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 CCCAGTTCTGAATCTGCAGGC 0.552 31 82 --- --- --- --- PASS ERCC3 2071 broad.mit.edu 37 2 128030447 128030447 + Silent SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:128030447T>A uc002toh.1 - 11 1916 c.1821A>T c.(1819-1821)ATA>ATT p.I607I ERCC3_uc002toe.1_Silent_p.I362I|ERCC3_uc002tof.1_Silent_p.I543I|ERCC3_uc002tog.1_Silent_p.I543I NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 607 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) AAACCTTGGATATGAAGATGG 0.488 Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 19 105 --- --- --- --- PASS ARHGEF4 50649 broad.mit.edu 37 2 131796570 131796570 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:131796570G>T uc002tsa.1 + 6 1232 c.712G>T c.(712-714)GAT>TAT p.D238Y ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.D238Y|ARHGEF4_uc010fmx.1_Missense_Mutation_p.D238Y|ARHGEF4_uc002tsc.1_5'Flank NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 238 SH3. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CCGGGTCGCCGATGGCGAGGG 0.592 14 39 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135744462 135744462 + Silent SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:135744462A>T uc002tue.1 - 7 2011 c.1980T>A c.(1978-1980)CCT>CCA p.P660P YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.P547P|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.P388P|YSK4_uc002tui.3_Silent_p.P677P NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 660 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) CATAGATTCCAGGTCCATTAG 0.408 100 286 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141598639 141598639 + Silent SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:141598639T>C uc002tvj.1 - 30 5934 c.4962A>G c.(4960-4962)CTA>CTG p.L1654L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1654 Extracellular (Potential).|LDL-receptor class B 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATCCACTGCTAGCCCTCTGA 0.363 TSP Lung(27;0.18) 31 155 --- --- --- --- PASS GALNT5 11227 broad.mit.edu 37 2 158114977 158114977 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:158114977A>T uc002tzg.2 + 1 638 c.383A>T c.(382-384)CAT>CTT p.H128L GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 128 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 CCGTTGTGGCATCCTGCACAT 0.557 18 114 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166246194 166246194 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:166246194C>G uc002udc.2 + 27 6168 c.5878C>G c.(5878-5880)CCA>GCA p.P1960A SCN2A_uc002udd.2_Missense_Mutation_p.P1960A|SCN2A_uc002ude.2_Missense_Mutation_p.P1960A NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1960 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GAATTCAACTCCAGAGAAAAC 0.368 32 89 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166848433 166848433 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:166848433G>T uc010zcz.1 - 26 5337 c.5319C>A c.(5317-5319)GTC>GTA p.V1773V NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1784 IV.|Helical; Name=S6 of repeat IV; (By similarity). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTCCAGGATGACCGCGATGT 0.448 82 181 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168101741 168101741 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:168101741A>T uc002udx.2 + 8 3857 c.3839A>T c.(3838-3840)GAG>GTG p.E1280V XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1105V|XIRP2_uc010fpq.2_Missense_Mutation_p.E1058V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1105 Xin 21. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTTATTTTTGAGACTTTTTCT 0.353 24 153 --- --- --- --- PASS DLX2 1746 broad.mit.edu 37 2 172967060 172967060 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:172967060G>T uc002uhn.2 - 1 419 c.207C>A c.(205-207)AAC>AAA p.N69K DLX2_uc010zdx.1_Missense_Mutation_p.N69K NM_004405 NP_004396 Q07687 DLX2_HUMAN distal-less homeobox 2 69 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.216) ggTGCTGCTGGTTGGTGTAGT 0.443 2 2 --- --- --- --- PASS HOXD9 3235 broad.mit.edu 37 2 176987592 176987592 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:176987592G>C uc010zex.1 + 1 180 c.96G>C c.(94-96)GAG>GAC p.E32D NM_014213 NP_055028 P28356 HXD9_HUMAN homeobox D9 32 nucleus sequence-specific DNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) AGGGCGACGAGGTGTTCGCGG 0.682 4 21 --- --- --- --- PASS FRZB 2487 broad.mit.edu 37 2 183723523 183723523 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:183723523C>A uc002upa.1 - 2 735 c.517G>T c.(517-519)GCA>TCA p.A173S NM_001463 NP_001454 Q92765 SFRP3_HUMAN frizzled-related protein precursor 173 brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) CCACTGCTTGCCCCTCTACAG 0.348 49 133 --- --- --- --- PASS CCDC150 284992 broad.mit.edu 37 2 197583269 197583269 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:197583269A>T uc002utp.1 + 18 2044 c.1909A>T c.(1909-1911)ACA>TCA p.T637S CCDC150_uc010zgs.1_Missense_Mutation_p.T284S|CCDC150_uc010zgt.1_Missense_Mutation_p.T54S|CCDC150_uc002utq.1_5'Flank|CCDC150_uc002utr.1_5'Flank NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 637 Potential. 0 GCTGTCCCGAACAGTGAAGTG 0.403 14 43 --- --- --- --- PASS CDK15 65061 broad.mit.edu 37 2 202712138 202712138 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:202712138G>T uc002uyt.2 + 9 935 c.886G>T c.(886-888)GGT>TGT p.G296C CDK15_uc010ftm.2_Missense_Mutation_p.G161C|CDK15_uc002uys.2_Missense_Mutation_p.G245C|CDK15_uc010ftn.1_Missense_Mutation_p.G245C|CDK15_uc010fto.1_Missense_Mutation_p.G275C NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 296 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) AATGTTCCAGGGTCAACCTTT 0.378 13 134 --- --- --- --- PASS WDR12 55759 broad.mit.edu 37 2 203762032 203762032 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:203762032C>A uc002uzl.2 - 5 1195 c.445G>T c.(445-447)GTG>TTG p.V149L WDR12_uc010ftt.2_Missense_Mutation_p.V149L NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN WD repeat domain 12 protein 149 WD 2.|Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 CCTTTTTTCACCCAGGCCACA 0.438 40 115 --- --- --- --- PASS NRP2 8828 broad.mit.edu 37 2 206617572 206617572 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:206617572G>T uc002vaw.2 + 12 2708 c.1917G>T c.(1915-1917)CAG>CAT p.Q639H NRP2_uc002vau.2_Missense_Mutation_p.Q639H|NRP2_uc002vav.2_Missense_Mutation_p.Q639H|NRP2_uc002vax.2_Missense_Mutation_p.Q639H|NRP2_uc002vay.2_Missense_Mutation_p.Q639H NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 639 Extracellular (Potential). angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 AAGATTTGCAGCTCCCTTCGG 0.488 23 62 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220355278 220355278 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:220355278G>C uc010fwg.2 + 37 9069 c.9069G>C c.(9067-9069)ATG>ATC p.M3023I NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 3023 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCGGATCATGTCCCTGCACG 0.632 13 64 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225672459 225672459 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:225672459C>G uc010fwz.1 - 33 3867 c.3628G>C c.(3628-3630)GGC>CGC p.G1210R DOCK10_uc002vob.2_Missense_Mutation_p.G1204R|DOCK10_uc002voa.2_5'Flank|DOCK10_uc002voc.2_Missense_Mutation_p.G73R NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1210 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AGGAGCATGCCGTACAGGGGC 0.403 3 14 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228128559 228128559 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr2:228128559A>T uc002vom.1 + 21 1376 c.1214A>T c.(1213-1215)GAA>GTA p.E405V COL4A3_uc002von.1_Missense_Mutation_p.E405V|COL4A3_uc002voo.1_Missense_Mutation_p.E405V|COL4A3_uc002vop.1_Missense_Mutation_p.E405V|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 405 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AGTAAAGGGGAACGAGGCCGC 0.552 5 83 --- --- --- --- PASS FGD5 152273 broad.mit.edu 37 3 14862052 14862052 + Missense_Mutation SNP T G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:14862052T>G uc003bzc.2 + 1 1584 c.1474T>G c.(1474-1476)TAT>GAT p.Y492D FGD5_uc011avk.1_Missense_Mutation_p.Y492D NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 492 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(3)|kidney(1)|pancreas(1) 5 GGTGGCCGGCTATGTCCCAGA 0.617 28 36 --- --- --- --- PASS METTL6 131965 broad.mit.edu 37 3 15457358 15457358 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:15457358A>G uc003bzs.1 - 4 710 c.452T>C c.(451-453)GTG>GCG p.V151A METTL6_uc011avp.1_Missense_Mutation_p.V106A|METTL6_uc003bzt.1_Missense_Mutation_p.V151A|METTL6_uc010hen.1_5'Flank NM_152396 NP_689609 Q8TCB7 METL6_HUMAN methyltransferase like 6 151 methyltransferase activity 0 AACAACATCCACAGACTCTGG 0.408 55 93 --- --- --- --- PASS TOP2B 7155 broad.mit.edu 37 3 25668689 25668689 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:25668689C>A uc011awn.1 - 16 2048 c.2005G>T c.(2005-2007)GCC>TCC p.A669S TOP2B_uc003cdj.2_Missense_Mutation_p.A664S NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 669 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 AAGGTAATGGCAGCATCATCT 0.398 4 170 --- --- --- --- PASS ZNF619 285267 broad.mit.edu 37 3 40529231 40529231 + Silent SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:40529231C>T uc011azb.1 + 6 1628 c.1350C>T c.(1348-1350)AGC>AGT p.S450S ZNF619_uc010hhz.2_Silent_p.S401S|ZNF619_uc003ckj.2_Silent_p.S394S|ZNF619_uc011azc.1_Silent_p.S410S|ZNF619_uc011azd.1_Silent_p.S366S|ZNF619_uc011aza.1_Silent_p.S352S NM_001145082 NP_001138554 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 isoform 1 450 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) AAACTTTCAGCTGTAGCTCCC 0.473 35 82 --- --- --- --- PASS SETD2 29072 broad.mit.edu 37 3 47125224 47125224 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:47125224A>G uc003cqs.2 - 12 6099 c.6046T>C c.(6046-6048)TGG>CGG p.W2016R SETD2_uc003cqv.2_Missense_Mutation_p.W2083R|SETD2_uc003cqt.1_RNA NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 2016 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AGGTCTTTCCAACTGTCCAGG 0.388 N|F|S|Mis clear cell renal carcinoma 105 170 --- --- --- --- PASS MST1R 4486 broad.mit.edu 37 3 49940543 49940543 + Missense_Mutation SNP T G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:49940543T>G uc003cxy.3 - 1 764 c.500A>C c.(499-501)CAC>CCC p.H167P MST1R_uc011bdd.1_Missense_Mutation_p.H167P|MST1R_uc011bde.1_Missense_Mutation_p.H167P|MST1R_uc011bdf.1_Missense_Mutation_p.H167P|MST1R_uc011bdg.1_Missense_Mutation_p.H167P NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 167 Extracellular (Potential).|Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CCGGTTATGGTGGGCTGAGAA 0.632 29 28 --- --- --- --- PASS GPR128 84873 broad.mit.edu 37 3 100364866 100364866 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:100364866G>A uc003duc.2 + 9 1292 c.1024G>A c.(1024-1026)GAT>AAT p.D342N GPR128_uc011bhc.1_Missense_Mutation_p.D43N NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 342 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 AGCTAAATCGGATTTTAGTCA 0.333 50 189 --- --- --- --- PASS DZIP3 9666 broad.mit.edu 37 3 108403065 108403065 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:108403065G>T uc003dxd.2 + 27 3308 c.2886G>T c.(2884-2886)ATG>ATT p.M962I DZIP3_uc003dxf.1_Missense_Mutation_p.M962I|DZIP3_uc011bhm.1_Missense_Mutation_p.M413I NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 962 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TATTTTAGATGCAGCAGTTCT 0.378 239 356 --- --- --- --- PASS CD96 10225 broad.mit.edu 37 3 111297997 111297997 + Missense_Mutation SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:111297997T>C uc003dxw.2 + 5 885 c.715T>C c.(715-717)TTC>CTC p.F239L CD96_uc003dxv.2_Missense_Mutation_p.F223L|CD96_uc003dxx.2_Missense_Mutation_p.F223L|CD96_uc010hpy.1_Missense_Mutation_p.F223L NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 239 Extracellular (Potential). cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 AGTCCAAATCTTCGATGATGG 0.443 Opitz_Trigonocephaly_syndrome 68 271 --- --- --- --- PASS TMPRSS7 344805 broad.mit.edu 37 3 111795864 111795864 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:111795864G>T uc010hqb.2 + 14 1889 c.1719G>T c.(1717-1719)CAG>CAT p.Q573H TMPRSS7_uc011bhr.1_Missense_Mutation_p.Q428H NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 699 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 CTTTGCTACAGCTCAGTATTG 0.478 117 381 --- --- --- --- PASS ZNF80 7634 broad.mit.edu 37 3 113955205 113955205 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:113955205G>A uc010hqo.2 - 1 1221 c.717C>T c.(715-717)CAC>CAT p.H239H ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 239 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) TCTCTCCAGTGTGACTCCTTG 0.458 149 168 --- --- --- --- PASS HEG1 57493 broad.mit.edu 37 3 124692706 124692706 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:124692706C>A uc003ehs.3 - 16 3933 c.3865G>T c.(3865-3867)GAT>TAT p.D1289Y HEG1_uc003ehr.3_Missense_Mutation_p.D143Y|HEG1_uc011bke.1_Missense_Mutation_p.D1389Y NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 1289 Cytoplasmic (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 ATTTGGAAATCTCCACTTTTG 0.373 29 104 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126732960 126732960 + Splice_Site SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:126732960G>T uc003ejg.2 + 10 2345 c.2341_splice c.e10+1 p.A781_splice NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) AACATCCAGGGTGAGTGGGCG 0.652 19 186 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132166270 132166270 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:132166270A>G uc003eor.2 + 4 315 c.250A>G c.(250-252)AAA>GAA p.K84E DNAJC13_uc010htq.1_Missense_Mutation_p.K84E NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 84 heat shock protein binding ovary(1)|breast(1) 2 AGAAACTTTAAAATTTTCTAC 0.353 50 133 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133098802 133098802 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:133098802A>G uc003eph.2 + 4 521 c.247A>G c.(247-249)ACA>GCA p.T83A TMEM108_uc003epi.2_Missense_Mutation_p.T83A|TMEM108_uc003epj.1_Missense_Mutation_p.T83A|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.T34A NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 83 Pro-rich.|Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 TCCCATGGCAACACCGACACC 0.617 39 227 --- --- --- --- PASS PRR23B 389151 broad.mit.edu 37 3 138739325 138739325 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:138739325A>G uc003esy.1 - 1 444 c.179T>C c.(178-180)ATA>ACA p.I60T NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 60 breast(1) 1 CAGGACCACTATGGAGGTGAG 0.726 6 33 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165547603 165547603 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:165547603C>A uc003fem.3 - 2 1379 c.1219G>T c.(1219-1221)GAT>TAT p.D407Y BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 407 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GGTCTCTGATCATCTACCCAG 0.398 53 154 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 183014824 183014824 + Silent SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:183014824C>T uc003fli.1 - 12 1527 c.1437G>A c.(1435-1437)CCG>CCA p.P479P MCF2L2_uc003flj.1_Silent_p.P479P|MCF2L2_uc011bqr.1_Intron|uc003fln.1_RNA|uc003flo.2_5'Flank NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 479 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GGCTGAGCAACGGGTACTCCT 0.507 39 148 --- --- --- --- PASS TNK2 10188 broad.mit.edu 37 3 195595138 195595138 + Silent SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:195595138C>A uc003fvu.1 - 12 2529 c.1986G>T c.(1984-1986)GGG>GGT p.G662G TNK2_uc003fvq.1_Silent_p.G69G|TNK2_uc003fvr.1_Silent_p.G187G|TNK2_uc003fvs.1_Silent_p.G694G|TNK2_uc003fvt.1_Silent_p.G740G|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 662 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CCTGGCTGGGCCCGGCAGGGA 0.701 8 55 --- --- --- --- PASS RGS12 6002 broad.mit.edu 37 4 3427268 3427268 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:3427268G>A uc003ggw.2 + 14 4216 c.3312G>A c.(3310-3312)AAG>AAA p.K1104K RGS12_uc003ggv.2_Silent_p.K1104K|RGS12_uc003ggy.1_Silent_p.K502K|RGS12_uc003ggz.2_Silent_p.K456K|RGS12_uc010icu.1_Silent_p.K303K|RGS12_uc011bvs.1_Silent_p.K446K|RGS12_uc003gha.2_Silent_p.K446K|RGS12_uc010icv.2_Silent_p.K303K|RGS12_uc003ghb.2_Silent_p.K303K NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1104 RBD 2. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGAGGAGAAGGATCCTTCCA 0.622 85 132 --- --- --- --- PASS TBC1D14 57533 broad.mit.edu 37 4 6969094 6969094 + Silent SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:6969094A>G uc011bwg.1 + 3 865 c.786A>G c.(784-786)TTA>TTG p.L262L TBC1D14_uc003gjs.3_Silent_p.L262L NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 262 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 GATGGAAGTTATTTGGGAAAG 0.413 42 87 --- --- --- --- PASS CC2D2A 57545 broad.mit.edu 37 4 15529081 15529081 + Silent SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:15529081C>T uc010idv.2 + 13 1406 c.1161C>T c.(1159-1161)TAC>TAT p.Y387Y CC2D2A_uc003gnx.2_Silent_p.Y338Y|CC2D2A_uc003gnv.2_Silent_p.Y387Y NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 387 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 CTGTAAAATACGTTCACAGTA 0.413 9 19 --- --- --- --- PASS PROM1 8842 broad.mit.edu 37 4 15987391 15987391 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:15987391C>G uc003goo.2 - 21 2484 c.2272G>C c.(2272-2274)GAG>CAG p.E758Q PROM1_uc003gor.2_Missense_Mutation_p.E758Q|PROM1_uc003gos.2_Missense_Mutation_p.E749Q|PROM1_uc003got.2_Missense_Mutation_p.E758Q|PROM1_uc003gou.2_Missense_Mutation_p.E749Q|PROM1_uc003gop.2_Missense_Mutation_p.E749Q|PROM1_uc003goq.3_Missense_Mutation_p.E749Q NM_006017 NP_006008 O43490 PROM1_HUMAN prominin 1 isoform 1 758 Extracellular (Potential). camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 7 ACAGAGAACTCGATCCACTGC 0.318 4 20 --- --- --- --- PASS SPATA18 132671 broad.mit.edu 37 4 52928470 52928470 + Silent SNP C A A rs143076152 TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:52928470C>A uc003gzl.2 + 4 672 c.394C>A c.(394-396)CGG>AGG p.R132R SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Silent_p.R132R|SPATA18_uc003gzk.1_Silent_p.R132R NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 132 Potential. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GAACTCAACCCGGAGTCAATG 0.358 4 162 --- --- --- --- PASS UGT2B10 7365 broad.mit.edu 37 4 69683839 69683839 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:69683839C>A uc003hee.2 + 2 836 c.811C>A c.(811-813)CCA>ACA p.P271T UGT2B10_uc011cam.1_Missense_Mutation_p.P187T NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 271 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 TCCATTCTTACCAAATGTTGA 0.393 114 209 --- --- --- --- PASS AFF1 4299 broad.mit.edu 37 4 87968580 87968580 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:87968580C>T uc003hqj.3 + 3 1279 c.872C>T c.(871-873)ACG>ATG p.T291M AFF1_uc011ccx.1_Missense_Mutation_p.T232M|AFF1_uc003hqh.1_Missense_Mutation_p.T298M|AFF1_uc011ccy.1_Missense_Mutation_p.T298M|AFF1_uc011ccz.1_Missense_Mutation_p.T298M|AFF1_uc003hqk.3_Missense_Mutation_p.T291M|AFF1_uc011cda.1_Intron NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 291 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) CAGAAGCCCACGGCTTATGTC 0.557 82 164 --- --- --- --- PASS NHEDC2 133308 broad.mit.edu 37 4 103966046 103966046 + Splice_Site SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:103966046C>A uc003hwx.3 - 8 1868 c.996_splice c.e8+1 p.Q332_splice NHEDC2_uc010iln.1_Splice_Site_p.Q184_splice|NHEDC2_uc003hwy.2_Splice_Site_p.Q332_splice|NHEDC2_uc011cew.1_Splice_Site_p.Q275_splice|NHEDC2_uc011cex.1_Splice_Site_p.Q275_splice NM_178833 NP_849155 Q86UD5 NHDC2_HUMAN Na+/H+ exchanger domain containing 2 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity 0 OV - Ovarian serous cystadenocarcinoma(123;2.3e-08) ATTTCTTTCACCTGGTCACGG 0.403 69 121 --- --- --- --- PASS LARP7 51574 broad.mit.edu 37 4 113575316 113575316 + Splice_Site SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:113575316G>T uc003iay.2 + 12 1946 c.1668_splice c.e12+1 p.K556_splice LARP7_uc003iaz.2_Splice_Site_p.K563_splice|LARP7_uc003iba.2_Splice_Site_p.K477_splice|LARP7_uc003ibb.2_Splice_Site_p.K556_splice NM_016648 NP_057732 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding ovary(3) 3 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) CACTGAAAAGGTAATTGATTC 0.338 35 45 --- --- --- --- PASS FGF2 2247 broad.mit.edu 37 4 123797543 123797543 + Nonsense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:123797543C>A uc003iev.1 + 2 713 c.645C>A c.(643-645)TAC>TAA p.Y215* NM_002006 NP_001997 P09038 FGF2_HUMAN fibroblast growth factor 2 215 activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|lung(1)|central_nervous_system(1) 3 Pentosan Polysulfate(DB00686) CTAACCGTTACCTGGCTATGA 0.383 30 60 --- --- --- --- PASS HAND2 9464 broad.mit.edu 37 4 174448478 174448478 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr4:174448478C>A uc003ith.1 - 2 1542 c.604G>T c.(604-606)GGC>TGC p.G202C HAND2_uc003itg.1_Missense_Mutation_p.R167M NM_021973 NP_068808 P61296 HAND2_HUMAN basic helix-loop-helix transcription factor 202 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity skin(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) CCCGTCCGGCCTTTGGTTTTC 0.493 57 101 --- --- --- --- PASS CEP72 55722 broad.mit.edu 37 5 644526 644526 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:644526A>G uc003jbf.2 + 10 1724 c.1652A>G c.(1651-1653)AAT>AGT p.N551S NM_018140 NP_060610 Q9P209 CEP72_HUMAN centrosomal protein 72 kDa 551 Potential. G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol ovary(1) 1 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) GCCACGTTAAATTTGCAGATC 0.368 48 364 --- --- --- --- PASS PAPD7 11044 broad.mit.edu 37 5 6739923 6739923 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:6739923C>A uc003jdx.1 + 4 345 c.216C>A c.(214-216)AAC>AAA p.N72K PAPD7_uc011cmn.1_Missense_Mutation_p.N63K NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 72 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 GGAAGCACAACGTGGCTGAGC 0.587 3 118 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19838948 19838948 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:19838948G>A uc003jgc.2 - 2 525 c.148C>T c.(148-150)CGT>TGT p.R50C CDH18_uc003jgd.2_Missense_Mutation_p.R50C|CDH18_uc011cnm.1_Missense_Mutation_p.R50C NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 50 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTTTTGGGACGATGATGGACT 0.418 15 206 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33535093 33535093 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:33535093G>T uc003jia.1 - 23 4614 c.4451C>A c.(4450-4452)TCC>TAC p.S1484Y ADAMTS12_uc010iuq.1_Missense_Mutation_p.S1399Y NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1484 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 ACAGGAAGTGGAACACTGAAA 0.488 HNSCC(64;0.19) 26 146 --- --- --- --- PASS PRLR 5618 broad.mit.edu 37 5 35070228 35070228 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:35070228C>G uc003jjm.2 - 7 1213 c.683G>C c.(682-684)AGT>ACT p.S228T PRLR_uc003jjg.1_Missense_Mutation_p.S228T|PRLR_uc003jjh.1_Missense_Mutation_p.S228T|PRLR_uc003jji.1_Missense_Mutation_p.S157T|PRLR_uc003jjj.1_Missense_Mutation_p.S228T|PRLR_uc003jjk.1_Missense_Mutation_p.S157T|PRLR_uc003jjl.3_Missense_Mutation_p.S127T|PRLR_uc010iuw.1_Missense_Mutation_p.S157T NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 228 Extracellular (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ACGCTCACCACTAGGTATCTG 0.413 30 114 --- --- --- --- PASS FYB 2533 broad.mit.edu 37 5 39138759 39138759 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:39138759A>T uc003jls.2 - 5 1461 c.1394T>A c.(1393-1395)ATA>AAA p.I465K FYB_uc003jlt.2_Missense_Mutation_p.I465K|FYB_uc003jlu.2_Missense_Mutation_p.I465K|FYB_uc011cpl.1_Missense_Mutation_p.I475K NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 465 SH2-binding (Potential).|Potential. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) TAATTCATACATGTCTTCATA 0.289 7 52 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40981579 40981579 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:40981579G>A uc003jmh.2 + 18 2550 c.2436G>A c.(2434-2436)GAG>GAA p.E812E NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 812 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) ACGGCAAGGAGCAGACGATGT 0.547 26 38 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41033217 41033217 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:41033217C>A uc003jmj.3 - 23 2777 c.2287G>T c.(2287-2289)GGC>TGC p.G763C HEATR7B2_uc003jmi.3_Missense_Mutation_p.G318C NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 763 binding ovary(6)|central_nervous_system(2) 8 ACAGCAATGCCAATCTCAGTG 0.448 29 108 --- --- --- --- PASS FOXD1 2297 broad.mit.edu 37 5 72743694 72743694 + Missense_Mutation SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:72743694T>C uc003kcp.2 - 1 659 c.494A>G c.(493-495)AAG>AGG p.K165R NM_004472 NP_004463 Q16676 FOXD1_HUMAN forkhead box D1 165 Fork-head. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151) OV - Ovarian serous cystadenocarcinoma(47;1.07e-54) GGCGGGGAACTTCTCCCGGTA 0.627 35 35 --- --- --- --- PASS KLHL3 26249 broad.mit.edu 37 5 136963999 136963999 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:136963999G>A uc010jek.2 - 13 2022 c.1578C>T c.(1576-1578)TGC>TGT p.C526C KLHL3_uc011cyc.1_Silent_p.C261C|KLHL3_uc003lbr.3_Silent_p.C444C|KLHL3_uc011cyd.1_RNA NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN kelch-like 3 526 Kelch 5. cytoplasm|cytoskeleton actin binding|structural molecule activity 0 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) CGTTGCGCCGGCACATGTTCA 0.537 4 210 --- --- --- --- PASS PCDHGA4 56111 broad.mit.edu 37 5 140736757 140736757 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:140736757G>T uc003ljq.1 + 1 1990 c.1990G>T c.(1990-1992)GTG>TTG p.V664L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.V664L|PCDHGB2_uc011dar.1_5'Flank NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 664 Extracellular (Potential).|Cadherin 6. 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) CACTGTGGCTGTGGCCGACAG 0.632 13 22 --- --- --- --- PASS HK3 3101 broad.mit.edu 37 5 176316651 176316651 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr5:176316651A>G uc003mfa.2 - 7 817 c.725T>C c.(724-726)GTT>GCT p.V242A HK3_uc003mez.2_5'Flank NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 242 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCACCTACAACTAGCCCAAC 0.592 42 52 --- --- --- --- PASS DCDC2 51473 broad.mit.edu 37 6 24178600 24178600 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:24178600G>T uc003ndx.2 - 9 1586 c.1284C>A c.(1282-1284)GAC>GAA p.D428E DCDC2_uc003ndy.2_Missense_Mutation_p.D428E|DCDC2_uc003ndw.2_Missense_Mutation_p.D179E NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 428 cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) TTCTTTCCTTGTCTAGGACCA 0.473 75 372 --- --- --- --- PASS HIST1H2AM 8336 broad.mit.edu 37 6 27860917 27860917 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:27860917C>A uc003nkb.1 - 1 47 c.11G>T c.(10-12)CGT>CTT p.R4L HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank NM_003514 NP_003505 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 4 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding ovary(2) 2 CTGCTTGCCACGTCCAGACAT 0.572 13 68 --- --- --- --- PASS OR2B3 442184 broad.mit.edu 37 6 29054979 29054979 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:29054979C>A uc003nlx.2 - 1 112 c.47G>T c.(46-48)GGC>GTC p.G16V NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 ATCTGAGAAGCCAAGTAGTAT 0.393 30 77 --- --- --- --- PASS SYNGAP1 8831 broad.mit.edu 37 6 33393613 33393613 + Silent SNP C T T rs147049139 TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:33393613C>T uc011dri.1 + 3 423 c.228C>T c.(226-228)TCC>TCT p.S76S SYNGAP1_uc003oeo.1_Silent_p.S61S|SYNGAP1_uc010juy.2_Silent_p.S61S NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 76 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 GGAGCGAGTCCAGTCGCAACA 0.687 3 31 --- --- --- --- PASS ANKS1A 23294 broad.mit.edu 37 6 34985290 34985290 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:34985290G>T uc003ojx.3 + 11 1606 c.1464G>T c.(1462-1464)GCG>GCT p.A488A ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Silent_p.A28A|ANKS1A_uc010jvp.1_Intron NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 488 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 AGGACTCTGCGGAGGGGCAGG 0.592 3 60 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38796023 38796023 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:38796023G>T uc003ooe.1 + 28 4096 c.3496G>T c.(3496-3498)GAT>TAT p.D1166Y NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGAAGCAGTTGATACCTTAAG 0.328 66 83 --- --- --- --- PASS TBCC 6903 broad.mit.edu 37 6 42712981 42712981 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:42712981G>A uc003osl.2 - 1 904 c.831C>T c.(829-831)AGC>AGT p.S277S NM_003192 NP_003183 Q15814 TBCC_HUMAN beta-tubulin cofactor C 277 C-CAP/cofactor C-like. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity 0 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) CGATGGCCCTGCTGGTCACCT 0.577 60 86 --- --- --- --- PASS IL17F 112744 broad.mit.edu 37 6 52109205 52109205 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:52109205C>T uc003pam.1 - 1 94 c.23G>A c.(22-24)GGC>GAC p.G8D NM_052872 NP_443104 Q96PD4 IL17F_HUMAN interleukin 17F precursor 8 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity ovary(1) 1 Lung NSC(77;0.116) CATGGCTGGGCCATGCAGGGT 0.453 56 92 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57512471 57512471 + Splice_Site SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:57512471G>T uc003pdx.2 + 15 1387 c.1300_splice c.e15-1 p.V434_splice NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTCCTTTACAGGTGGGTGATT 0.318 17 150 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75818736 75818736 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:75818736C>A uc003phs.2 - 52 8264 c.8098G>T c.(8098-8100)GCA>TCA p.A2700S COL12A1_uc003pht.2_Missense_Mutation_p.A1536S NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2700 TSP N-terminal.|Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TTACTCACTGCGGCTGATTTC 0.313 67 101 --- --- --- --- PASS PHIP 55023 broad.mit.edu 37 6 79707136 79707136 + Silent SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:79707136T>A uc003pir.2 - 19 2422 c.2196A>T c.(2194-2196)GTA>GTT p.V732V PHIP_uc011dyp.1_Silent_p.V732V NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 732 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CTTACCTGGCTACACCAGCTG 0.463 40 118 --- --- --- --- PASS FAM26D 221301 broad.mit.edu 37 6 116879179 116879179 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:116879179G>T uc003pxa.2 + 4 620 c.321G>T c.(319-321)AAG>AAT p.K107N FAM26D_uc003pwz.2_Missense_Mutation_p.K64N|FAM26D_uc010ked.2_Missense_Mutation_p.K106N NM_153036 NP_694581 Q5JW98 FA26D_HUMAN hypothetical protein LOC221301 250 integral to membrane 0 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222) GCATAAAGAAGCTATTTGGCT 0.473 47 144 --- --- --- --- PASS HSF2 3298 broad.mit.edu 37 6 122720903 122720903 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:122720903G>T uc003pyu.2 + 1 208 c.21G>T c.(19-21)GTG>GTT p.V7V HSF2_uc003pyt.3_Silent_p.V7V|HSF2_uc003pyv.2_Silent_p.V7V NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 7 By similarity. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) GTTCGAACGTGCCGGCTTTCC 0.607 16 61 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123332277 123332277 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:123332277G>C uc003pzi.1 + 3 1406 c.537G>C c.(535-537)ATG>ATC p.M179I NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 179 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CACCAAGTATGCTGCGATTAG 0.403 52 120 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152560737 152560737 + Silent SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:152560737C>G uc010kiw.2 - 108 20600 c.19998G>C c.(19996-19998)CTG>CTC p.L6666L SYNE1_uc010kiv.2_Silent_p.L1190L|SYNE1_uc003qos.3_Silent_p.L1190L|SYNE1_uc003qot.3_Silent_p.L6595L|SYNE1_uc003qou.3_Silent_p.L6666L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6666 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) CCTGAGCCATCAGCTCTGTAT 0.463 HNSCC(10;0.0054) 46 133 --- --- --- --- PASS RPS6KA2 6196 broad.mit.edu 37 6 166864710 166864710 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:166864710C>T uc003qvb.1 - 13 1306 c.1087G>A c.(1087-1089)GTC>ATC p.V363I RPS6KA2_uc011ego.1_Missense_Mutation_p.V274I|RPS6KA2_uc010kkl.1_Missense_Mutation_p.V274I|RPS6KA2_uc003qvc.1_Missense_Mutation_p.V371I|RPS6KA2_uc003qvd.1_Missense_Mutation_p.V388I NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 363 AGC-kinase C-terminal. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CTCGGGGGGACGCCAGGAGAG 0.493 6 190 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169648983 169648983 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr6:169648983G>T uc003qwt.2 - 4 386 c.138C>A c.(136-138)CGC>CGA p.R46R NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 46 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGTCGGGCCCGCGGAACTGCT 0.587 28 37 --- --- --- --- PASS UNCX 340260 broad.mit.edu 37 7 1273220 1273220 + Silent SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:1273220C>A uc011jvw.1 + 2 339 c.339C>A c.(337-339)ACC>ACA p.T113T NM_001080461 NP_001073930 A6NJT0 UNC4_HUMAN UNC homeobox 113 Homeobox. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) CCAACTTCACCGGCTGGCAGC 0.687 22 11 --- --- --- --- PASS CHN2 1124 broad.mit.edu 37 7 29407588 29407588 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:29407588C>G uc003szz.2 + 3 566 c.129C>G c.(127-129)ATC>ATG p.I43M CHN2_uc011jzs.1_Missense_Mutation_p.I118M|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Intron|CHN2_uc011jzt.1_Missense_Mutation_p.I56M|CHN2_uc010kvd.2_Missense_Mutation_p.I43M|CHN2_uc011jzu.1_Missense_Mutation_p.I28M NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 43 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 CCAAGAGAATCATTTGTCCTC 0.403 74 72 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48313492 48313492 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:48313492C>A uc003toq.2 + 17 4254 c.4229C>A c.(4228-4230)TCC>TAC p.S1410Y ABCA13_uc010kyr.2_Missense_Mutation_p.S913Y NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1410 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTGTCTAACTCCAGTTTTTCA 0.308 6 54 --- --- --- --- PASS C7orf42 55069 broad.mit.edu 37 7 66406997 66406997 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:66406997C>T uc003tvk.2 + 2 409 c.145C>T c.(145-147)CCA>TCA p.P49S C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Missense_Mutation_p.P49S NM_017994 NP_060464 Q9NWD8 CG042_HUMAN hypothetical protein LOC55069 49 integral to membrane ovary(1) 1 GATTAAATCCCCAGAAATGGC 0.537 26 159 --- --- --- --- PASS POM121 9883 broad.mit.edu 37 7 72413685 72413685 + Silent SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:72413685C>G uc003twk.2 + 11 3153 c.3153C>G c.(3151-3153)GCC>GCG p.A1051A POM121_uc003twj.2_Silent_p.A786A|POM121_uc010lam.1_Silent_p.A786A NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1051 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) GCGCTCCCGCCAGCTCACAGC 0.662 8 71 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 78119141 78119141 + Missense_Mutation SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:78119141T>C uc003ugx.2 - 6 1236 c.982A>G c.(982-984)ACA>GCA p.T328A MAGI2_uc003ugy.2_Missense_Mutation_p.T328A|MAGI2_uc010ldx.1_5'UTR|MAGI2_uc010ldy.1_5'UTR|MAGI2_uc011kgr.1_Missense_Mutation_p.T160A|MAGI2_uc011kgs.1_Missense_Mutation_p.T165A NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 328 WW 1.|Interaction with DDN. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGCCATGATGTTGTCTTTGTG 0.368 114 233 --- --- --- --- PASS HGF 3082 broad.mit.edu 37 7 81381445 81381445 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:81381445A>G uc003uhl.2 - 5 781 c.616T>C c.(616-618)TGT>CGT p.C206R HGF_uc003uhm.2_Missense_Mutation_p.C201R|HGF_uc003uhn.1_Missense_Mutation_p.C206R|HGF_uc003uho.1_Missense_Mutation_p.C201R|HGF_uc003uhp.2_Missense_Mutation_p.C206R NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 206 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CCTTCTGAACACTGAGGAATG 0.453 26 77 --- --- --- --- PASS SAMD9 54809 broad.mit.edu 37 7 92731286 92731286 + Missense_Mutation SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:92731286T>A uc003umf.2 - 3 4381 c.4125A>T c.(4123-4125)CAA>CAT p.Q1375H SAMD9_uc003umg.2_Missense_Mutation_p.Q1375H NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1375 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGACAGTGCATTGTTCTAAGA 0.358 60 226 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94047117 94047117 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:94047117G>A uc003ung.1 + 32 2416 c.1945G>A c.(1945-1947)GGC>AGC p.G649S COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 649 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGGTGCTGCTGGCATACCTGG 0.517 HNSCC(75;0.22) 9 12 --- --- --- --- PASS ACTL6B 51412 broad.mit.edu 37 7 100246273 100246273 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:100246273G>A uc003uvy.2 - 7 682 c.575C>T c.(574-576)TCC>TTC p.S192F ACTL6B_uc003uvx.1_5'UTR|ACTL6B_uc003uvz.2_RNA NM_016188 NP_057272 O94805 ACL6B_HUMAN actin-like 6B 192 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton ovary(1) 1 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGCCAGAGGGGACTTGACGAT 0.612 7 41 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100551236 100551236 + RNA SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:100551236T>A uc003uxk.1 + 1 c.487T>A uc003uxl.1_5'UTR Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. ACTCCCAGCCTCAGTTCTTCA 0.507 67 134 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100675095 100675095 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:100675095C>G uc003uxp.1 + 3 451 c.398C>G c.(397-399)ACT>AGT p.T133S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 133 Extracellular (Potential).|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCCAGTTCTACTGAAGACACT 0.473 67 158 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100682506 100682506 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:100682506A>G uc003uxp.1 + 3 7862 c.7809A>G c.(7807-7809)ATA>ATG p.I2603M MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2603 Extracellular (Potential).|59 X approximate tandem repeats.|42.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACACCAGCATACCTGTCACCA 0.453 81 431 --- --- --- --- PASS NRCAM 4897 broad.mit.edu 37 7 107790506 107790506 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:107790506A>G uc003vfb.2 - 33 4235 c.3764T>C c.(3763-3765)CTA>CCA p.L1255P NRCAM_uc003vfc.2_Missense_Mutation_p.L1134P|NRCAM_uc011kmk.1_Missense_Mutation_p.L1157P|NRCAM_uc003vfd.2_Missense_Mutation_p.L1138P|NRCAM_uc003vfe.2_Missense_Mutation_p.L1126P|NRCAM_uc003vez.2_Missense_Mutation_p.L38P|NRCAM_uc003vfa.2_Missense_Mutation_p.L99P|NRCAM_uc011kmj.1_Missense_Mutation_p.L101P NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 1255 Cytoplasmic (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 ATAGTCAACTAGGCTGTCGTC 0.443 112 267 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122033627 122033627 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:122033627C>A uc010lkp.2 - 20 2919 c.2756G>T c.(2755-2757)TGT>TTT p.C919F CADPS2_uc011knx.1_Missense_Mutation_p.C294F|CADPS2_uc003vkg.3_Missense_Mutation_p.C613F|CADPS2_uc010lkq.2_Missense_Mutation_p.C913F NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 919 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TTTTCCATTACACAAAAGTGC 0.403 20 77 --- --- --- --- PASS RNF148 378925 broad.mit.edu 37 7 122341945 122341945 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:122341945G>C uc003vkk.1 - 1 1077 c.860C>G c.(859-861)CCC>CGC p.P287R CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR NM_198085 NP_932351 Q8N7C7 RN148_HUMAN ring finger protein 148 precursor 287 RING-type; atypical. integral to membrane zinc ion binding 0 TAAAAGCCAGGGGTCAATGCA 0.393 62 112 --- --- --- --- PASS ZC3HAV1L 92092 broad.mit.edu 37 7 138711516 138711516 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:138711516C>A uc003vum.1 - 4 836 c.824G>T c.(823-825)GGA>GTA p.G275V NM_080660 NP_542391 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 275 0 TTCTGCAGCTCCAGCTGCGTG 0.507 33 121 --- --- --- --- PASS TTC26 79989 broad.mit.edu 37 7 138822649 138822649 + Silent SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:138822649T>C uc003vus.2 + 3 312 c.198T>C c.(196-198)TGT>TGC p.C66C TTC26_uc003vuq.2_Silent_p.C66C|TTC26_uc011kqm.1_Silent_p.C66C|TTC26_uc003vur.3_Silent_p.C66C|TTC26_uc011kqn.1_Silent_p.C66C|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Silent_p.C66C NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 66 TPR 1. binding ovary(1) 1 TTGGATATTGTGCCTTTCACC 0.299 39 150 --- --- --- --- PASS TRPV5 56302 broad.mit.edu 37 7 142606744 142606744 + Missense_Mutation SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:142606744T>A uc003wby.1 - 14 2071 c.1807A>T c.(1807-1809)ATG>TTG p.M603L NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 603 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CGCTCCAGCATCACTGTGGTG 0.597 12 40 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147675073 147675073 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:147675073A>G uc003weu.1 + 15 2891 c.2375A>G c.(2374-2376)CAA>CGA p.Q792R NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 792 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTGCGCTGCCAAGGAGACAGT 0.473 HNSCC(39;0.1) 43 81 --- --- --- --- PASS CUL1 8454 broad.mit.edu 37 7 148485762 148485762 + Silent SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:148485762A>G uc010lpg.2 + 14 2119 c.1593A>G c.(1591-1593)CTA>CTG p.L531L CUL1_uc003wey.2_Silent_p.L531L|CUL1_uc003wez.2_Silent_p.L421L|CUL1_uc003wfa.2_Silent_p.L192L NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 531 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CAGAACCCCTAGACTGTGAGT 0.428 26 163 --- --- --- --- PASS ZNF398 57541 broad.mit.edu 37 7 148876570 148876570 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:148876570G>C uc003wfl.2 + 6 1881 c.1606G>C c.(1606-1608)GAG>CAG p.E536Q ZNF398_uc011kul.1_Missense_Mutation_p.E365Q|ZNF398_uc011kum.1_Missense_Mutation_p.E541Q NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 536 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) GCACACAGGCGAGCGGCCCTT 0.612 18 40 --- --- --- --- PASS GIMAP8 155038 broad.mit.edu 37 7 150164377 150164377 + Silent SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:150164377A>T uc003whj.2 + 2 921 c.591A>T c.(589-591)GGA>GGT p.G197G NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 197 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ATACGAACGGAGGACCCTATC 0.418 57 127 --- --- --- --- PASS GIMAP2 26157 broad.mit.edu 37 7 150389846 150389846 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:150389846G>C uc003who.2 + 3 560 c.472G>C c.(472-474)GAT>CAT p.D158H GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 158 integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCCTGATGGATTACATGCA 0.512 26 66 --- --- --- --- PASS ABP1 26 broad.mit.edu 37 7 150556022 150556022 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:150556022G>T uc003why.1 + 4 5960 c.1742G>T c.(1741-1743)AGC>ATC p.S581I ABP1_uc003whz.1_Missense_Mutation_p.S581I|ABP1_uc003wia.1_Missense_Mutation_p.S581I NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 581 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CTCTTTACCAGCCCCCAGGAG 0.657 6 13 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154263965 154263965 + Silent SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:154263965T>C uc003wlk.2 + 5 720 c.591T>C c.(589-591)GAT>GAC p.D197D DPP6_uc003wli.2_Silent_p.D133D|DPP6_uc003wlj.2_Silent_p.D197D|DPP6_uc003wlm.2_Silent_p.D135D|DPP6_uc011kvq.1_Silent_p.D135D NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 197 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TATCTCCAGATAGAGAGTATG 0.284 17 61 --- --- --- --- PASS NCAPG2 54892 broad.mit.edu 37 7 158449109 158449109 + Missense_Mutation SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr7:158449109T>A uc003wnv.1 - 19 2376 c.2231A>T c.(2230-2232)AAA>ATA p.K744I NCAPG2_uc010lqu.1_Missense_Mutation_p.K536I|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.K744I|NCAPG2_uc011kwe.1_Missense_Mutation_p.K744I|NCAPG2_uc011kwc.1_Missense_Mutation_p.K245I|NCAPG2_uc011kwd.1_Missense_Mutation_p.K187I NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 744 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CACCCTACCTTTAGAAGCTGT 0.433 30 157 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3008986 3008986 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:3008986G>T uc011kwk.1 - 40 6357 c.5967C>A c.(5965-5967)CCC>CCA p.P1989P CSMD1_uc011kwj.1_Silent_p.P1381P|CSMD1_uc003wqe.2_Silent_p.P1145P|CSMD1_uc010lrg.2_Silent_p.P57P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1989 Extracellular (Potential).|CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGGGAAGCCGGGGCTCAGGA 0.512 5 20 --- --- --- --- PASS EBF2 64641 broad.mit.edu 37 8 25744281 25744281 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:25744281G>A uc003xes.1 - 10 1016 c.999C>T c.(997-999)TTC>TTT p.F333F PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 333 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CTGTGTAAATGAACCTTCCTG 0.478 47 64 --- --- --- --- PASS STAR 6770 broad.mit.edu 37 8 38008285 38008285 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:38008285G>A uc003xkv.1 - 1 316 c.52C>T c.(52-54)CGC>TGC p.R18C STAR_uc010lwc.1_Missense_Mutation_p.R18C NM_001007243 NP_001007244 P49675 STAR_HUMAN steroidogenic acute regulatory protein isoform 18 C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) TTCATGTTGCGCATGTGTCTG 0.418 4 127 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48719888 48719888 + Splice_Site SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:48719888C>T uc003xqi.2 - 70 9615 c.9558_splice c.e70-1 p.R3186_splice PRKDC_uc003xqj.2_Splice_Site_p.R3186_splice|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAAGAAACATCTACACAAAGA 0.383 NHEJ 63 122 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77620259 77620259 + Silent SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:77620259C>T uc003yav.2 + 3 3378 c.2991C>T c.(2989-2991)CAC>CAT p.H997H ZFHX4_uc003yat.1_Silent_p.H997H|ZFHX4_uc003yau.1_Silent_p.H1023H|ZFHX4_uc003yaw.1_Silent_p.H997H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 997 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATCACAGGCACGAGGCGGCCC 0.468 HNSCC(33;0.089) 20 120 --- --- --- --- PASS FABP5 2171 broad.mit.edu 37 8 82196169 82196169 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:82196169G>T uc003yca.1 + 3 362 c.314G>T c.(313-315)AGC>ATC p.S105I NM_001444 NP_001435 Q01469 FABP5_HUMAN fatty acid binding protein 5 105 epidermis development cytoplasm fatty acid binding|protein binding|transporter activity 0 Lung NSC(7;3.57e-05)|all_lung(9;0.00011) Epithelial(68;0.102) GGGAAGGAAAGCACAATAACA 0.398 7 37 --- --- --- --- PASS PDP1 54704 broad.mit.edu 37 8 94934294 94934294 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:94934294G>T uc003yge.2 + 2 276 c.7G>T c.(7-9)GCA>TCA p.A3S PDP1_uc003ygf.2_Missense_Mutation_p.A28S|PDP1_uc010max.2_Missense_Mutation_p.A28S|PDP1_uc011lgm.1_Missense_Mutation_p.A3S|PDP1_uc011lgn.1_Missense_Mutation_p.A62S NM_018444 NP_060914 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic 3 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 TGCCATGCCAGCACCAACTCA 0.458 20 124 --- --- --- --- PASS RAD54B 25788 broad.mit.edu 37 8 95412502 95412502 + Silent SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:95412502T>C uc003ygk.2 - 7 1232 c.1134A>G c.(1132-1134)CTA>CTG p.L378L RAD54B_uc010may.1_Silent_p.L185L|RAD54B_uc003ygl.1_RNA NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TTTCACTTCCTAGCCATTTTT 0.338 Direct_reversal_of_damage|Homologous_recombination 34 104 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104928746 104928746 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:104928746G>T uc003yls.2 + 6 1592 c.1351G>T c.(1351-1353)GTA>TTA p.V451L RIMS2_uc003ylp.2_Missense_Mutation_p.V673L|RIMS2_uc003ylw.2_Missense_Mutation_p.V481L|RIMS2_uc003ylq.2_Missense_Mutation_p.V481L|RIMS2_uc003ylr.2_Missense_Mutation_p.V528L|RIMS2_uc003ylt.2_Missense_Mutation_p.V74L|RIMS2_uc003ylu.1_Missense_Mutation_p.V64L|RIMS2_uc003ylv.1_Missense_Mutation_p.V64L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 751 PDZ. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGTAGAACTTGTAGTTTCAAG 0.348 HNSCC(12;0.0054) 6 151 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110447466 110447466 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:110447466C>G uc003yne.2 + 29 3492 c.3388C>G c.(3388-3390)CCC>GCC p.P1130A NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1130 Extracellular (Potential).|IPT/TIG 4. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGGACATGCCCCCGTTGCTGT 0.413 HNSCC(38;0.096) 86 208 --- --- --- --- PASS NOV 4856 broad.mit.edu 37 8 120431546 120431546 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:120431546G>A uc003yoq.2 + 4 959 c.738G>A c.(736-738)GTG>GTA p.V246V NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 246 TSP type-1. regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTGCATGGTGCGGCCCTGTG 0.562 18 164 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131812707 131812707 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:131812707G>A uc003ytd.3 - 15 3281 c.3025C>T c.(3025-3027)CGC>TGC p.R1009C ADCY8_uc010mds.2_Missense_Mutation_p.R878C NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1009 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTGAGCAAGCGCAGGCATTCC 0.443 HNSCC(32;0.087) 119 328 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131826349 131826349 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:131826349G>A uc003ytd.3 - 14 3135 c.2879C>T c.(2878-2880)GCC>GTC p.A960V ADCY8_uc010mds.2_Missense_Mutation_p.A829V NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 960 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GAAATGGCGGGCCACATGGCT 0.522 HNSCC(32;0.087) 30 96 --- --- --- --- PASS WISP1 8840 broad.mit.edu 37 8 134232918 134232918 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:134232918C>A uc003yub.2 + 3 520 c.444C>A c.(442-444)GAC>GAA p.D148E WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 148 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CGTGCATCGACGGCGCGGTGG 0.667 28 135 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164260 139164260 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:139164260C>T uc003yuy.2 - 13 2629 c.2458G>A c.(2458-2460)GGA>AGA p.G820R FAM135B_uc003yux.2_Missense_Mutation_p.G721R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G382R|FAM135B_uc003yvb.2_Missense_Mutation_p.G382R NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 820 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCATCTGTTCCAGAGTCACCA 0.517 HNSCC(54;0.14) 54 121 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139209863 139209863 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:139209863C>A uc003yuy.2 - 8 890 c.719G>T c.(718-720)TGG>TTG p.W240L FAM135B_uc003yux.2_Missense_Mutation_p.W141L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 240 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTCTCGGTGCCACTTGTGTGC 0.577 HNSCC(54;0.14) 29 114 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139890011 139890011 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:139890011G>C uc003yvd.2 - 3 1087 c.640C>G c.(640-642)CGG>GGG p.R214G NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 214 cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGACGGCGCCGCAGCTTGCCC 0.652 HNSCC(7;0.00092) 15 56 --- --- --- --- PASS PTK2 5747 broad.mit.edu 37 8 141799601 141799601 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:141799601G>T uc003yvu.2 - 14 1379 c.1149C>A c.(1147-1149)GGC>GGA p.G383G PTK2_uc011ljq.1_Silent_p.G44G|PTK2_uc003yvp.2_Silent_p.G44G|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Silent_p.G282G|PTK2_uc003yvs.2_Silent_p.G383G|PTK2_uc003yvt.2_Silent_p.G405G|PTK2_uc003yvv.2_Silent_p.G270G|PTK2_uc011ljr.1_Silent_p.G383G NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 383 axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) GTGTCCGCATGCCTTGCTTTT 0.527 133 475 --- --- --- --- PASS NFKBIL2 4796 broad.mit.edu 37 8 145657681 145657681 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:145657681C>A uc011llg.1 - 23 3737 c.3722G>T c.(3721-3723)CGA>CTA p.R1241L uc011llh.1_5'Flank NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 1241 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GGCCAGGTATCGGAATACAGG 0.622 64 203 --- --- --- --- PASS JAK2 3717 broad.mit.edu 37 9 5090820 5090820 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:5090820G>C uc010mhm.2 + 21 3081 c.2968G>C c.(2968-2970)GTT>CTT p.V990L JAK2_uc003ziw.2_Missense_Mutation_p.V990L NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 990 Protein kinase 2. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) CGAGAACAGAGTTAAAATTGG 0.363 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 666 158 --- --- --- --- PASS IFNA13 3447 broad.mit.edu 37 9 21367977 21367977 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:21367977G>T uc003zpa.2 - 1 99 c.33C>A c.(31-33)GCC>GCA p.A11A NM_006900 NP_008831 P01562 IFNA1_HUMAN interferon, alpha 13 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding ovary(1) 1 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) GCACCACCAGGGCCATCAGTA 0.542 40 99 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32631709 32631709 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:32631709C>A uc003zrg.1 - 1 3959 c.3869G>T c.(3868-3870)GGA>GTA p.G1290V uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1290 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) CCTCATATGTCCAATGGCACC 0.468 98 188 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32631710 32631710 + Nonsense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:32631710C>A uc003zrg.1 - 1 3958 c.3868G>T c.(3868-3870)GGA>TGA p.G1290* uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1290 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) CTCATATGTCCAATGGCACCA 0.473 95 191 --- --- --- --- PASS SUSD3 203328 broad.mit.edu 37 9 95846984 95846984 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:95846984G>T uc004atb.2 + 5 759 c.723G>T c.(721-723)CTG>CTT p.L241L SUSD3_uc004atc.2_Silent_p.L228L NM_145006 NP_659443 Q96L08 SUSD3_HUMAN sushi domain containing 3 241 Cytoplasmic (Potential). integral to membrane breast(2)|skin(2)|ovary(1)|lung(1) 6 CCTCTGGGCTGGCCACAGGAA 0.647 23 66 --- --- --- --- PASS CYLC2 1539 broad.mit.edu 37 9 105767756 105767756 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:105767756C>G uc004bbs.2 + 5 913 c.843C>G c.(841-843)GAC>GAG p.D281E NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 281 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) GTAGTACAGACAGTGACTCAA 0.254 15 28 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 118969826 118969826 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:118969826G>C uc004bjn.2 + 3 1951 c.1570G>C c.(1570-1572)GAG>CAG p.E524Q PAPPA_uc011lxp.1_Missense_Mutation_p.E317Q|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 524 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CTCAGAGGAGGAGTTGGCAGG 0.443 35 66 --- --- --- --- PASS GOLGA1 2800 broad.mit.edu 37 9 127652688 127652688 + Missense_Mutation SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:127652688T>C uc004bpc.2 - 16 1819 c.1477A>G c.(1477-1479)AGG>GGG p.R493G GOLGA1_uc010mws.2_RNA NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 493 Potential.|Gln-rich. Golgi cisterna membrane ovary(1) 1 AACTCTTCCCTTTGCTTCCGC 0.577 62 80 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135140176 135140176 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:135140176A>G uc004cbk.2 - 26 7667 c.7484T>C c.(7483-7485)CTA>CCA p.L2495P SETX_uc004cbj.2_Missense_Mutation_p.L2143P|SETX_uc010mzt.2_Missense_Mutation_p.L2081P NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2495 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCCACTGTCTAGCTTGCTGCT 0.507 96 135 --- --- --- --- PASS GFI1B 8328 broad.mit.edu 37 9 135863681 135863681 + Silent SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:135863681C>A uc004ccg.2 + 4 487 c.336C>A c.(334-336)GCC>GCA p.A112A GFI1B_uc010mzy.2_Silent_p.A112A NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 112 Interaction with ARIH2. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) ACACCTTGGCCACAACCTATG 0.627 28 55 --- --- --- --- PASS SARDH 1757 broad.mit.edu 37 9 136582496 136582496 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr9:136582496C>G uc004cep.3 - 8 1236 c.1102G>C c.(1102-1104)GTC>CTC p.V368L SARDH_uc004ceo.2_Missense_Mutation_p.V368L|SARDH_uc011mdn.1_Missense_Mutation_p.V368L|SARDH_uc011mdo.1_Missense_Mutation_p.V200L NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 368 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) AGCACGGGGACCCTGTTGATG 0.612 35 59 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55913039 55913039 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr10:55913039G>A uc001jju.1 - 14 2000 c.1605C>T c.(1603-1605)GAC>GAT p.D535D PCDH15_uc010qhq.1_Silent_p.D540D|PCDH15_uc010qhr.1_Silent_p.D535D|PCDH15_uc010qhs.1_Silent_p.D547D|PCDH15_uc010qht.1_Silent_p.D542D|PCDH15_uc010qhu.1_Silent_p.D535D|PCDH15_uc001jjv.1_Silent_p.D513D|PCDH15_uc010qhv.1_Silent_p.D535D|PCDH15_uc010qhw.1_Silent_p.D498D|PCDH15_uc010qhx.1_Silent_p.D535D|PCDH15_uc010qhy.1_Silent_p.D540D|PCDH15_uc010qhz.1_Silent_p.D535D|PCDH15_uc010qia.1_Silent_p.D513D|PCDH15_uc010qib.1_Silent_p.D513D|PCDH15_uc001jjw.2_Silent_p.D535D NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 535 Cadherin 5.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CTTCGTCTGCGTCGACTGCAG 0.453 HNSCC(58;0.16) 55 88 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69934038 69934038 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr10:69934038C>A uc001jnm.3 + 12 2374 c.2189C>A c.(2188-2190)ACG>AAG p.T730K MYPN_uc001jnn.3_Missense_Mutation_p.T455K|MYPN_uc001jno.3_Missense_Mutation_p.T730K|MYPN_uc009xpt.2_Missense_Mutation_p.T730K|MYPN_uc010qit.1_Missense_Mutation_p.T436K|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 730 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 TTCCCCTCCACGAACACCACC 0.552 88 205 --- --- --- --- PASS NODAL 4838 broad.mit.edu 37 10 72195131 72195131 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr10:72195131G>C uc001jrc.2 - 2 844 c.802C>G c.(802-804)CCC>GCC p.P268A NM_018055 NP_060525 Q96S42 NODAL_HUMAN nodal precursor 268 growth extracellular space cytokine activity|growth factor activity large_intestine(1)|kidney(1) 2 TACTGCTTGGGGTAGATGATC 0.547 13 67 --- --- --- --- PASS PPRC1 23082 broad.mit.edu 37 10 103908180 103908180 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr10:103908180G>T uc001kum.2 + 10 4491 c.4452G>T c.(4450-4452)TCG>TCT p.S1484S PPRC1_uc001kun.2_Silent_p.S1364S|PPRC1_uc010qqj.1_Silent_p.S1220S|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1484 Arg-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) cctcttcttcgtcatcatctt 0.433 71 80 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108437122 108437122 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr10:108437122C>G uc001kym.2 - 13 1789 c.1781G>C c.(1780-1782)GGT>GCT p.G594A SORCS1_uc001kyl.2_Missense_Mutation_p.G594A|SORCS1_uc009xxs.2_Missense_Mutation_p.G594A|SORCS1_uc001kyn.1_Missense_Mutation_p.G594A|SORCS1_uc001kyo.2_Missense_Mutation_p.G594A NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 594 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CAGGACTCCACCTTGATCCAG 0.473 31 55 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115350407 115350407 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr10:115350407G>A uc001laj.2 - 40 5050 c.4886C>T c.(4885-4887)CCC>CTC p.P1629L NRAP_uc009xyb.2_Missense_Mutation_p.P382L|NRAP_uc001lak.2_Missense_Mutation_p.P1594L|NRAP_uc001lal.3_Missense_Mutation_p.P1629L NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1629 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GGTGGGCTGGGGCAGGGGCTG 0.657 29 44 --- --- --- --- PASS OR51B4 79339 broad.mit.edu 37 11 5322388 5322388 + Missense_Mutation SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:5322388T>A uc010qza.1 - 1 789 c.789A>T c.(787-789)AAA>AAT p.K263N HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGTGCATGTTTCCCAAACC 0.423 27 77 --- --- --- --- PASS USH1C 10083 broad.mit.edu 37 11 17547921 17547921 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:17547921A>T uc001mnf.2 - 8 756 c.647T>A c.(646-648)CTG>CAG p.L216Q USH1C_uc001mne.2_Missense_Mutation_p.L216Q|USH1C_uc009yhb.2_Missense_Mutation_p.L216Q|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.L180Q NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 216 PDZ 2. 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 GGAGCCTACCAGGCTGATGAA 0.617 6 69 --- --- --- --- PASS LDHAL6A 160287 broad.mit.edu 37 11 18498018 18498018 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:18498018G>C uc001mop.1 + 6 941 c.680G>C c.(679-681)TGG>TCG p.W227S LDHAL6A_uc001moq.2_Missense_Mutation_p.W227S NM_001144071 NP_001137543 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 227 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) CCTGAGCAGTGGGAAAATGTC 0.423 76 130 --- --- --- --- PASS OR4C12 283093 broad.mit.edu 37 11 50004035 50004035 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:50004035C>A uc010ria.1 - 1 3 c.3G>T c.(1-3)ATG>ATT p.M1I NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TTTTCTTCTCCATCTATGTAG 0.318 30 86 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55418580 55418580 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:55418580G>T uc001nhs.1 + 1 201 c.201G>T c.(199-201)GTG>GTT p.V67V NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) TGTCTTTTGTGGACATTTGTT 0.423 73 375 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55418609 55418609 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:55418609C>A uc001nhs.1 + 1 230 c.230C>A c.(229-231)CCC>CAC p.P77H NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) GTCACAGCTCCCAAGATGATT 0.428 157 337 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55419050 55419050 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:55419050G>A uc001nhs.1 + 1 671 c.671G>A c.(670-672)AGA>AAA p.R224K NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) GTTTCCCTGAGAAAGCAGTCA 0.483 89 205 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432892 55432892 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:55432892C>T uc001nht.3 + 3 515 c.250C>T c.(250-252)CTC>TTC p.L84F OR4C6_uc010rik.1_Missense_Mutation_p.L84F NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGTAGACACCCTCTCCAAGAG 0.488 85 172 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55594993 55594993 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:55594993A>G uc001nhy.1 + 1 299 c.299A>G c.(298-300)CAA>CGA p.Q100R NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TGCATGGTGCAATTCTACTTG 0.468 HNSCC(27;0.073) 144 145 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904440 55904440 + Missense_Mutation SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:55904440T>A uc010riz.1 - 1 755 c.755A>T c.(754-756)TAT>TTT p.Y252F NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) CATTGTCCCATAGAAAACCGT 0.413 106 128 --- --- --- --- PASS OR5R1 219479 broad.mit.edu 37 11 56185406 56185406 + Silent SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:56185406C>A uc010rji.1 - 1 303 c.303G>T c.(301-303)CTG>CTT p.L101L NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GAAAACAACCCAGTTGGGTTG 0.453 58 60 --- --- --- --- PASS SERPING1 710 broad.mit.edu 37 11 57369607 57369607 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:57369607G>T uc001nkp.1 + 4 841 c.650G>T c.(649-651)GGT>GTT p.G217V SERPING1_uc001nkq.1_Missense_Mutation_p.G217V|SERPING1_uc010rju.1_Missense_Mutation_p.G165V|SERPING1_uc010rjv.1_Missense_Mutation_p.G222V|SERPING1_uc001nkr.1_Missense_Mutation_p.G217V|SERPING1_uc009ymi.1_Missense_Mutation_p.G217V|SERPING1_uc009ymj.1_Missense_Mutation_p.G217V|SERPING1_uc001nks.1_5'UTR NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 217 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 ACGACCAAAGGTGTCACCTCA 0.587 Hereditary_Angioedema 21 130 --- --- --- --- PASS OR9I1 219954 broad.mit.edu 37 11 57886593 57886593 + Silent SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:57886593T>A uc001nml.1 - 1 324 c.324A>T c.(322-324)GCA>GCT p.A108A OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) ACTCTGTGCCTGCACAGATGG 0.542 57 51 --- --- --- --- PASS OR9I1 219954 broad.mit.edu 37 11 57886914 57886914 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:57886914C>A uc001nml.1 - 1 3 c.3G>T c.(1-3)ATG>ATT p.M1I OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) TATTCTTGGCCATGGAGACAA 0.413 10 106 --- --- --- --- PASS OR1S2 219958 broad.mit.edu 37 11 57970847 57970847 + Silent SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:57970847T>C uc010rkb.1 - 1 807 c.807A>G c.(805-807)GTA>GTG p.V269V NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 269 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) AGTACACGCCTACAGTGGTTC 0.502 18 236 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58207151 58207151 + Silent SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:58207151A>T uc010rkh.1 - 1 474 c.474T>A c.(472-474)ACT>ACA p.T158T NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAGTGTTCCCAGTATGAATGG 0.453 19 87 --- --- --- --- PASS OR4D10 390197 broad.mit.edu 37 11 59245658 59245658 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:59245658G>A uc001nnz.1 + 1 756 c.756G>A c.(754-756)GTG>GTA p.V252V NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TGCATTTCGTGCCCTGCATCT 0.547 46 203 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62287588 62287588 + Silent SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:62287588A>T uc001ntl.2 - 5 14601 c.14301T>A c.(14299-14301)CCT>CCA p.P4767P AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4767 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CATCCACATCAGGGGTGTTGA 0.522 72 261 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83544666 83544666 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:83544666C>A uc001paj.2 - 12 1701 c.1398G>T c.(1396-1398)CAG>CAT p.Q466H DLG2_uc001pai.2_Missense_Mutation_p.Q363H|DLG2_uc010rsy.1_Missense_Mutation_p.Q433H|DLG2_uc010rsz.1_Missense_Mutation_p.Q466H|DLG2_uc010rta.1_Missense_Mutation_p.Q466H|DLG2_uc001pak.2_Missense_Mutation_p.Q571H|DLG2_uc010rtb.1_Missense_Mutation_p.Q433H|DLG2_uc001pal.1_Missense_Mutation_p.Q466H|DLG2_uc001pam.1_Missense_Mutation_p.Q505H NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 466 PDZ 3. 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) CCGATAGGATCTGGTCTCCTC 0.433 20 108 --- --- --- --- PASS NAALAD2 10003 broad.mit.edu 37 11 89907028 89907028 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:89907028C>A uc001pdf.3 + 14 1556 c.1447C>A c.(1447-1449)CTG>ATG p.L483M NAALAD2_uc009yvx.2_Missense_Mutation_p.L450M|NAALAD2_uc009yvy.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 483 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GAGTAAATCACTGTATGAAAG 0.368 38 154 --- --- --- --- PASS FOLR4 390243 broad.mit.edu 37 11 94039700 94039700 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:94039700G>T uc010rud.1 + 2 160 c.160G>T c.(160-162)GCC>TCC p.A54S NM_001080486 NP_001073955 A6ND01 FOLR4_HUMAN folate receptor 4 (delta) homolog 54 extracellular region folic acid binding|receptor activity ovary(1) 1 GAAGGACAATGCCTGCTGCAC 0.547 70 261 --- --- --- --- PASS THY1 7070 broad.mit.edu 37 11 119290968 119290968 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:119290968G>A uc001pwq.2 - 2 200 c.166C>T c.(166-168)CGT>TGT p.R56C uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.R56C|THY1_uc001pws.2_RNA NM_006288 NP_006279 P04216 THY1_HUMAN Thy-1 cell surface antigen preproprotein 56 Ig-like V-type. angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) TTTGTCTCACGGGTCAGGCTG 0.562 34 212 --- --- --- --- PASS THY1 7070 broad.mit.edu 37 11 119290969 119290969 + Silent SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:119290969G>T uc001pwq.2 - 2 199 c.165C>A c.(163-165)ACC>ACA p.T55T uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Silent_p.T55T|THY1_uc001pws.2_RNA NM_006288 NP_006279 P04216 THY1_HUMAN Thy-1 cell surface antigen preproprotein 55 Ig-like V-type. LT -> AP (in Ref. 5). angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) TTGTCTCACGGGTCAGGCTGA 0.562 33 213 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 120989112 120989112 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:120989112G>T uc010rzo.1 + 6 888 c.888G>T c.(886-888)GAG>GAT p.E296D NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 296 VWFC. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACTGCCAGGAGGCTTCCTGTA 0.547 26 112 --- --- --- --- PASS ZNF202 7753 broad.mit.edu 37 11 123597180 123597180 + Missense_Mutation SNP C T T rs150835875 TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:123597180C>T uc001pzd.1 - 9 1872 c.1472G>A c.(1471-1473)CGC>CAC p.R491H ZNF202_uc001pzc.1_Missense_Mutation_p.R267H|ZNF202_uc001pze.1_Missense_Mutation_p.R491H|ZNF202_uc001pzf.1_Missense_Mutation_p.R491H NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 491 C2H2-type 3. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TGAAGTCCAGCGGAAGTGCTT 0.458 50 249 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123893774 123893774 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:123893774C>A uc010sad.1 + 1 55 c.55C>A c.(55-57)CCA>ACA p.P19T NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCCCCATGCCCCAGGGCTGGA 0.572 30 295 --- --- --- --- PASS VSIG2 23584 broad.mit.edu 37 11 124620721 124620721 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:124620721G>T uc001qas.2 - 3 392 c.316C>A c.(316-318)CTG>ATG p.L106M VSIG2_uc001qat.2_Missense_Mutation_p.L106M NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 106 Extracellular (Potential).|Ig-like V-type. integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GTCAGTTTCAGTGTGGCCACC 0.532 15 76 --- --- --- --- PASS PKNOX2 63876 broad.mit.edu 37 11 125301131 125301131 + Missense_Mutation SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr11:125301131T>C uc001qbu.2 + 13 1576 c.1262T>C c.(1261-1263)ATG>ACG p.M421T PKNOX2_uc010saz.1_Missense_Mutation_p.M392T|PKNOX2_uc010sba.1_Missense_Mutation_p.M392T|PKNOX2_uc010sbb.1_Missense_Mutation_p.M357T|PKNOX2_uc001qbv.2_Missense_Mutation_p.M186T NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 421 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CAGCAGGCTATGATGGCTGCA 0.403 10 21 --- --- --- --- PASS SLC6A12 6539 broad.mit.edu 37 12 311986 311986 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:311986A>T uc001qhz.2 - 6 953 c.410T>A c.(409-411)CTT>CAT p.L137H SLC6A12_uc001qia.2_Missense_Mutation_p.L137H|SLC6A12_uc001qib.2_Missense_Mutation_p.L137H|SLC6A12_uc009zdh.1_Missense_Mutation_p.L137H|SLC6A12_uc009zdi.1_RNA NM_003044 NP_003035 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter 137 Helical; Name=3; (Potential). cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) AGCCCAGGCAAGGATGATGAT 0.507 34 106 --- --- --- --- PASS CACNA2D4 93589 broad.mit.edu 37 12 1988147 1988147 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:1988147A>T uc001qjp.2 - 15 1850 c.1619T>A c.(1618-1620)CTG>CAG p.L540Q CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.L428Q NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 540 Cache.|Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAGCTTCATCAGCTCTCTCAG 0.622 18 48 --- --- --- --- PASS APOBEC1 339 broad.mit.edu 37 12 7805076 7805076 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:7805076G>A uc001qtb.2 - 3 434 c.400C>T c.(400-402)CTT>TTT p.L134F APOBEC1_uc001qtc.2_Missense_Mutation_p.L89F|APOBEC1_uc010sgf.1_Missense_Mutation_p.L134F NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 134 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 CTGTTAACAAGGTCCCTGAGA 0.423 47 144 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 40012715 40012715 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:40012715C>A uc001rmb.2 - 1 1129 c.703G>T c.(703-705)GTA>TTA p.V235L NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 235 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 GTCAGCATTACATCTAAAATA 0.473 67 283 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43833798 43833798 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:43833798C>T uc010skx.1 - 17 2365 c.2365G>A c.(2365-2367)GTG>ATG p.V789M ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 789 Spacer. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTTCCTTGCACATTGATTTCT 0.313 8 10 --- --- --- --- PASS VDR 7421 broad.mit.edu 37 12 48238617 48238617 + Missense_Mutation SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:48238617T>A uc001rqm.2 - 11 1478 c.1196A>T c.(1195-1197)AAG>ATG p.K399M VDR_uc001rql.2_Missense_Mutation_p.K449M|VDR_uc001rqn.2_Missense_Mutation_p.K399M|VDR_uc010slq.1_Missense_Mutation_p.K367M NM_001017535 NP_001017535 P11473 VDR_HUMAN vitamin D (1,25-dihydroxyvitamin D3) receptor 399 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) GCGGTACTGCTTGGAGTGCTC 0.597 23 36 --- --- --- --- PASS CACNB3 784 broad.mit.edu 37 12 49217127 49217127 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:49217127G>T uc001rsl.1 + 2 247 c.46G>T c.(46-48)GGT>TGT p.G16C CACNB3_uc010slx.1_Missense_Mutation_p.G3C|CACNB3_uc010sly.1_Missense_Mutation_p.G3C|CACNB3_uc010slz.1_Missense_Mutation_p.G15C|CACNB3_uc001rsk.1_5'UTR NM_000725 NP_000716 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 16 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 Verapamil(DB00661) CCCAACCCAGGGTTCAGCCGA 0.612 21 47 --- --- --- --- PASS CSRNP2 81566 broad.mit.edu 37 12 51470288 51470288 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:51470288G>A uc001rxu.1 - 2 355 c.57C>T c.(55-57)GGC>GGT p.G19G NM_030809 NP_110436 Q9H175 CSRN2_HUMAN TGF-beta induced apoptosis protein 12 19 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AAACTGATGAGCCCACATCCA 0.532 48 86 --- --- --- --- PASS AGAP2 116986 broad.mit.edu 37 12 58126629 58126629 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:58126629C>G uc001spq.2 - 6 1683 c.1683G>C c.(1681-1683)GAG>GAC p.E561D AGAP2_uc001spp.2_Missense_Mutation_p.E561D|AGAP2_uc001spr.2_Missense_Mutation_p.E225D NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 561 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 TACACTCACCCTCCTGGAAGA 0.557 186 314 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78571420 78571420 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:78571420C>G uc001syp.2 + 28 5491 c.5318C>G c.(5317-5319)CCA>CGA p.P1773R NAV3_uc001syo.2_Intron|NAV3_uc010sub.1_Intron|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1773 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GTCTGGCCACCAAAGAAACGA 0.428 HNSCC(70;0.22) 19 41 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104089529 104089529 + Silent SNP G T T rs146946520 byFrequency TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:104089529G>T uc001tjw.2 + 33 3675 c.3489G>T c.(3487-3489)GCG>GCT p.A1163A NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1163 Extracellular (Potential).|FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 ATAATCTGGCGAATGCAATTG 0.468 37 60 --- --- --- --- PASS USP30 84749 broad.mit.edu 37 12 109523484 109523484 + Silent SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:109523484C>T uc010sxi.1 + 13 1406 c.1302C>T c.(1300-1302)TAC>TAT p.Y434Y USP30_uc001tnu.3_Silent_p.Y403Y|USP30_uc001tnw.3_Silent_p.Y151Y NM_032663 NP_116052 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 434 Cytoplasmic (Potential). ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(1) 1 CCTCCACATACCTCTTCCGGC 0.453 83 131 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124343715 124343715 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr12:124343715A>T uc001uft.3 + 37 6320 c.6295A>T c.(6295-6297)ATG>TTG p.M2099L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2099 AAA 2 (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) AGTGGTTCAAATGTTCGAGAC 0.443 25 22 --- --- --- --- PASS PAN3 255967 broad.mit.edu 37 13 28841467 28841467 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr13:28841467G>C uc001urz.2 + 11 1291 c.1283G>C c.(1282-1284)GGA>GCA p.G428A PAN3_uc010tdo.1_Missense_Mutation_p.G574A|PAN3_uc001ury.2_Missense_Mutation_p.G262A|PAN3_uc001urx.2_Missense_Mutation_p.G374A NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 574 Protein kinase.|Interaction with PAN2. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TTCCATGCTGGAGGAGAAACT 0.388 38 83 --- --- --- --- PASS TEP1 7011 broad.mit.edu 37 14 20837529 20837529 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:20837529G>A uc001vxe.2 - 53 7670 c.7630C>T c.(7630-7632)CAT>TAT p.H2544Y TEP1_uc010ahj.1_RNA|TEP1_uc010ahk.2_Missense_Mutation_p.H1887Y|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.H2436Y NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 2544 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GTCTTTAGATGTGGTGTTGGC 0.413 79 88 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 14 22192164 22192164 + RNA SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:22192164C>T uc001wbn.2 + 1 c.157C>T Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36. TCGATGCTTGCGATGCTCTTC 0.547 173 215 --- --- --- --- PASS HOMEZ 57594 broad.mit.edu 37 14 23746090 23746090 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:23746090G>T uc001wja.2 - 2 495 c.347C>A c.(346-348)TCT>TAT p.S116Y HOMEZ_uc001wjb.2_Missense_Mutation_p.S118Y NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 116 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) TATTTCTTCAGATGACCAGCT 0.517 25 281 --- --- --- --- PASS HOMEZ 57594 broad.mit.edu 37 14 23746113 23746113 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:23746113G>A uc001wja.2 - 2 472 c.324C>T c.(322-324)CTC>CTT p.L108L HOMEZ_uc001wjb.2_Silent_p.L110L NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 108 Homeobox 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) TACCACAGCGGAGGCGCTGGG 0.498 43 268 --- --- --- --- PASS HOMEZ 57594 broad.mit.edu 37 14 23746358 23746358 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:23746358G>A uc001wja.2 - 2 227 c.79C>T c.(79-81)CCT>TCT p.P27S HOMEZ_uc001wjb.2_Missense_Mutation_p.P29S NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 27 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) TCTTTATTAGGAGGCATGGTG 0.517 6 28 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42360618 42360618 + Nonsense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:42360618C>A uc001wvm.2 + 4 2749 c.1551C>A c.(1549-1551)TGC>TGA p.C517* LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 517 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) ATGTGCGTTGCCATTTCATGC 0.433 HNSCC(30;0.082) 76 324 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42360619 42360619 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:42360619C>T uc001wvm.2 + 4 2750 c.1552C>T c.(1552-1554)CAT>TAT p.H518Y LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 518 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGTGCGTTGCCATTTCATGCA 0.438 HNSCC(30;0.082) 76 327 --- --- --- --- PASS SDCCAG1 9147 broad.mit.edu 37 14 50266381 50266381 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:50266381C>A uc001wxc.2 - 24 2456 c.2388G>T c.(2386-2388)TTG>TTT p.L796F SDCCAG1_uc010anj.1_Missense_Mutation_p.L796F|SDCCAG1_uc001wwz.2_5'Flank|SDCCAG1_uc001wxa.2_Missense_Mutation_p.L76F|SDCCAG1_uc010tqi.1_Missense_Mutation_p.L775F|SDCCAG1_uc001wxe.2_Missense_Mutation_p.L754F|SDCCAG1_uc001wxd.1_Missense_Mutation_p.L201F NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 796 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) CTTTTGAAGCCAATTTCTGGA 0.328 23 117 --- --- --- --- PASS DPF3 8110 broad.mit.edu 37 14 73238591 73238591 + Nonsense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:73238591G>A uc001xnc.2 - 2 56 c.43C>T c.(43-45)CAG>TAG p.Q15* DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Nonsense_Mutation_p.Q15*|DPF3_uc010ttq.1_Nonsense_Mutation_p.Q25* NM_012074 NP_036206 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 15 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TTGTAGAACTGGTCCCCGAGC 0.587 6 22 --- --- --- --- PASS TTC7B 145567 broad.mit.edu 37 14 91252558 91252558 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:91252558C>T uc001xyp.2 - 2 358 c.236G>A c.(235-237)CGC>CAC p.R79H NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 79 binding ovary(2) 2 Melanoma(154;0.222) CAGATGCTTGCGGACCTCAGT 0.642 15 59 --- --- --- --- PASS CYP46A1 10858 broad.mit.edu 37 14 100166358 100166358 + Silent SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:100166358C>T uc001ygo.2 + 5 363 c.363C>T c.(361-363)TTC>TTT p.F121F CYP46A1_uc001ygn.1_Silent_p.F83F NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 121 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) ACAGACTCTTCGGCCAAGGCT 0.423 12 57 --- --- --- --- PASS DIO3 1735 broad.mit.edu 37 14 102028122 102028122 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:102028122G>A uc010txq.1 + 1 435 c.211G>A c.(211-213)GAC>AAC p.D71N DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 71 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(303;0.185) GCCTCCCGATGACCCGCCCAT 0.642 12 78 --- --- --- --- PASS PACS2 23241 broad.mit.edu 37 14 105849743 105849743 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr14:105849743C>T uc001yqt.2 + 16 1836 c.1661C>T c.(1660-1662)GCG>GTG p.A554V PACS2_uc001yqs.2_Missense_Mutation_p.A479V|PACS2_uc001yqv.2_Missense_Mutation_p.A558V|PACS2_uc001yqu.2_Missense_Mutation_p.A558V NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 554 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) ATCGCCGTGGCGGGAGCGCAG 0.642 16 63 --- --- --- --- PASS SPRED1 161742 broad.mit.edu 37 15 38591692 38591692 + Nonsense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr15:38591692G>T uc001zka.3 + 2 486 c.151G>T c.(151-153)GAA>TAA p.E51* NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 51 WH1. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CCCTCATCAGGAAGAGAATGG 0.438 Legius_syndrome 37 78 --- --- --- --- PASS FRMD5 84978 broad.mit.edu 37 15 44211710 44211710 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr15:44211710G>A uc001ztl.2 - 4 453 c.276C>T c.(274-276)TTC>TTT p.F92F FRMD5_uc001ztk.1_Silent_p.F3F|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_5'UTR NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 isoform 2 92 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) ACTTCACACGGAAGCACATGG 0.522 95 160 --- --- --- --- PASS CYP11A1 1583 broad.mit.edu 37 15 74637456 74637456 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr15:74637456C>T uc002axt.2 - 3 709 c.554G>A c.(553-555)CGC>CAC p.R185H CYP11A1_uc002axs.2_Missense_Mutation_p.R27H|CYP11A1_uc010bjm.1_Missense_Mutation_p.R27H|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.R185H|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.2_Missense_Mutation_p.R185H NM_000781 NP_000772 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, 185 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding ovary(2) 2 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CTTCTTGATGCGCCTGTGCAG 0.582 4 82 --- --- --- --- PASS RCN2 5955 broad.mit.edu 37 15 77236139 77236139 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr15:77236139A>G uc002bcd.2 + 4 709 c.488A>G c.(487-489)CAG>CGG p.Q163R RCN2_uc002bce.2_Missense_Mutation_p.Q235R|RCN2_uc010bks.2_Missense_Mutation_p.Q116R NM_002902 NP_002893 Q14257 RCN2_HUMAN reticulocalbin 2 precursor 163 EF-hand 3.|3; possibly ancestral (Potential). endoplasmic reticulum lumen calcium ion binding 0 AAAGCTAACCAGGATTCAGGT 0.308 18 60 --- --- --- --- PASS AGPHD1 123688 broad.mit.edu 37 15 78805425 78805425 + Splice_Site SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr15:78805425G>T uc010unc.1 + 2 109 c.-4_splice c.e2-1 AGPHD1_uc002bdt.2_Splice_Site|AGPHD1_uc010ble.2_Splice_Site NM_001013619 NP_001013641 A2RU49 AGPD1_HUMAN aminoglycoside phosphotransferase domain cytoplasm kinase activity 0 TGTTCCCCTAGACATAATGTC 0.398 3 49 --- --- --- --- PASS ACSM1 116285 broad.mit.edu 37 16 20693666 20693666 + Missense_Mutation SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr16:20693666T>C uc002dhm.1 - 3 591 c.523A>G c.(523-525)ATA>GTA p.I175V ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.I175V NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 175 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 TGAGAAGCTATGGAGTCCACC 0.522 38 62 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21078624 21078624 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr16:21078624C>A uc010vbe.1 - 24 3498 c.3498G>T c.(3496-3498)AAG>AAT p.K1166N NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1166 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ATAGTCTCTTCTTCTCCAAGT 0.438 20 75 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76587245 76587245 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr16:76587245G>A uc002feu.1 + 24 3893 c.3508G>A c.(3508-3510)GCA>ACA p.A1170T CNTNAP4_uc002fev.1_Missense_Mutation_p.A1034T|CNTNAP4_uc010chb.1_Missense_Mutation_p.A1097T|CNTNAP4_uc002fex.1_Missense_Mutation_p.A1173T NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1170 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CTGCCTCTCTGCAGTGCAGCT 0.547 4 10 --- --- --- --- PASS FAM101B 359845 broad.mit.edu 37 17 293122 293122 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:293122G>C uc002frj.2 - 2 542 c.268C>G c.(268-270)CCC>GCC p.P90A NM_182705 NP_874364 Q8N5W9 F101B_HUMAN hypothetical protein LOC359845 160 0 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.0216) AAGCGGGTGGGCCTGTGGCGT 0.642 10 36 --- --- --- --- PASS FAM101B 359845 broad.mit.edu 37 17 293123 293123 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:293123C>A uc002frj.2 - 2 541 c.267G>T c.(265-267)AGG>AGT p.R89S NM_182705 NP_874364 Q8N5W9 F101B_HUMAN hypothetical protein LOC359845 159 0 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.0216) AGCGGGTGGGCCTGTGGCGTG 0.642 10 36 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578176 7578176 + Splice_Site SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:7578176C>A uc002gim.2 - 6 866 c.672_splice c.e6+1 p.E224_splice TP53_uc002gig.1_Splice_Site_p.E224_splice|TP53_uc002gih.2_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.1_Missense_Mutation_p.V186F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(26)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(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) GCAAACCAGACCTCAGGCGGC 0.517 111 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) 13 37 --- --- --- --- PASS CNTROB 116840 broad.mit.edu 37 17 7836605 7836605 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:7836605G>C uc002gjq.2 + 2 1127 c.208G>C c.(208-210)GGC>CGC p.G70R TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Missense_Mutation_p.G70R|CNTROB_uc002gjr.2_5'Flank NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 70 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) AGGGTTAGACGGCTTCGCCCA 0.562 16 109 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10212613 10212613 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:10212613G>T uc002gmk.1 - 35 5197 c.5107C>A c.(5107-5109)CGC>AGC p.R1703S NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1703 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GACAGCCTGCGGGTCCGCTCC 0.667 21 20 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10222343 10222343 + Missense_Mutation SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:10222343T>C uc002gmk.1 - 27 3592 c.3502A>G c.(3502-3504)AAC>GAC p.N1168D NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1168 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CTCTTCTTGTTCATCTCAATC 0.582 94 152 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10351439 10351439 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:10351439G>A uc002gmn.2 - 34 4772 c.4661C>T c.(4660-4662)TCT>TTT p.S1554F uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1554 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 ATGCTCAAGAGATGCCTTAAT 0.328 37 66 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10401147 10401147 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:10401147C>G uc002gmo.2 - 31 4363 c.4269G>C c.(4267-4269)CAG>CAC p.Q1423H uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1423 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 TCTGGAGCCTCTGCTTCGTCT 0.473 20 103 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11833311 11833311 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:11833311C>G uc002gne.2 + 63 12074 c.12006C>G c.(12004-12006)ATC>ATG p.I4002M DNAH9_uc010coo.2_Intron|DNAH9_uc002gnf.2_Missense_Mutation_p.I314M NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4002 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGGCCACATCATCCCCCAGG 0.592 24 35 --- --- --- --- PASS ULK2 9706 broad.mit.edu 37 17 19687201 19687201 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:19687201C>A uc002gwm.3 - 22 2778 c.2269G>T c.(2269-2271)GGG>TGG p.G757W ULK2_uc002gwn.2_Missense_Mutation_p.G757W NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 757 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) AGAGAGCCCCCGGAGTTGCTG 0.592 22 26 --- --- --- --- PASS MED1 5469 broad.mit.edu 37 17 37564132 37564132 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:37564132G>C uc002hrv.3 - 17 4554 c.4342C>G c.(4342-4344)CCC>GCC p.P1448A MED1_uc010wee.1_Missense_Mutation_p.P1276A|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1448 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CTATGGCTGGGAGAGCCACGC 0.488 HNSCC(31;0.082) 30 35 --- --- --- --- PASS ERBB2 2064 broad.mit.edu 37 17 37866733 37866733 + Silent SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:37866733C>T uc002hso.2 + 7 1138 c.900C>T c.(898-900)CCC>CCT p.P300P ERBB2_uc002hsm.2_Silent_p.P270P|ERBB2_uc010cwa.2_Silent_p.P285P|ERBB2_uc002hsp.2_Silent_p.P103P|ERBB2_uc010cwb.2_Silent_p.P300P|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Silent_p.P270P|ERBB2_uc002hsn.1_Silent_p.P300P NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 300 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTGCCTGTCCCTGTGAGTGCC 0.537 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 29 34 --- --- --- --- PASS LRRC37A2 474170 broad.mit.edu 37 17 44626194 44626194 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:44626194C>A uc002ikn.1 + 9 3692 c.3689C>A c.(3688-3690)GCC>GAC p.A1230D ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.A191D|LRRC37A2_uc010dax.1_Missense_Mutation_p.A160D NM_001006607 NP_001006608 A6NM11 L37A2_HUMAN c114 SLIT-like testicular protein precursor 1230 Extracellular (Potential). integral to membrane 0 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GCGGGAAACGCCGTCTACACC 0.587 54 266 --- --- --- --- PASS SAMD14 201191 broad.mit.edu 37 17 48191655 48191655 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:48191655C>T uc002iqg.2 - 8 1137 c.838G>A c.(838-840)GAT>AAT p.D280N SAMD14_uc002iqd.2_Missense_Mutation_p.D63N|SAMD14_uc002iqe.2_Missense_Mutation_p.D63N|SAMD14_uc002iqf.2_Missense_Mutation_p.D308N NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 280 0 GTGGAGTCATCACTCAGAGTG 0.577 22 41 --- --- --- --- PASS SOX9 6662 broad.mit.edu 37 17 70119805 70119805 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:70119805C>A uc002jiw.2 + 3 1179 c.807C>A c.(805-807)GAC>GAA p.D269E uc002jiv.2_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 269 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CCCCTATCGACTTCCGCGACG 0.652 4 162 --- --- --- --- PASS CD300LF 146722 broad.mit.edu 37 17 72691910 72691910 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:72691910A>T uc002jlg.2 - 6 774 c.671T>A c.(670-672)CTT>CAT p.L224H RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Missense_Mutation_p.L227H|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Silent_p.A239A|CD300LF_uc002jli.2_Silent_p.A189A|CD300LF_uc010wra.1_Missense_Mutation_p.L239H|CD300LF_uc002jlj.1_Silent_p.A234A NM_139018 NP_620587 Q8TDQ1 CLM1_HUMAN NK inhibitory receptor precursor 224 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity upper_aerodigestive_tract(1) 1 GGCAGAGGAAAGCTTCGTGGT 0.637 55 44 --- --- --- --- PASS EVPL 2125 broad.mit.edu 37 17 74023265 74023265 + Silent SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr17:74023265C>A uc002jqi.2 - 1 243 c.15G>T c.(13-15)CTG>CTT p.L5L EVPL_uc010wss.1_Silent_p.L5L|EVPL_uc010wst.1_5'UTR NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 5 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 AGCCTTTGCTCAGCCCCTTGA 0.493 23 22 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25589781 25589781 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr18:25589781C>G uc002kwg.2 - 5 1061 c.602G>C c.(601-603)GGA>GCA p.G201A CDH2_uc010xbn.1_Missense_Mutation_p.G170A NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 201 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CTGGTCAGCTCCTGGCCCAGT 0.483 35 100 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 49867170 49867170 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr18:49867170C>G uc002lfe.1 + 1 600 c.13C>G c.(13-15)CTT>GTT p.L5V NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 5 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GGAGAATAGTCTTAGATGTGT 0.413 59 156 --- --- --- --- PASS SHC2 25759 broad.mit.edu 37 19 440878 440878 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:440878G>A uc002loq.3 - 2 523 c.523C>T c.(523-525)CGC>TGC p.R175C SHC2_uc002lop.3_5'Flank NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 175 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTGCGTGCGCGTGTTAAAG 0.647 45 54 --- --- --- --- PASS TLE6 79816 broad.mit.edu 37 19 2989088 2989088 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:2989088C>T uc002lwu.2 + 11 801 c.401C>T c.(400-402)GCA>GTA p.A134V TLE6_uc002lwt.2_Missense_Mutation_p.A257V|TLE6_uc010dtg.2_Missense_Mutation_p.A257V|TLE6_uc002lwv.2_Missense_Mutation_p.A38V NM_024760 NP_079036 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 isoform 2 134 regulation of transcription, DNA-dependent nucleus ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTTGAAGATGCATGGAAGAGG 0.592 33 36 --- --- --- --- PASS CD209 30835 broad.mit.edu 37 19 7812352 7812352 + Nonsense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:7812352C>A uc002mht.2 - 1 113 c.46G>T c.(46-48)GAG>TAG p.E16* CD209_uc010xju.1_Nonsense_Mutation_p.E16*|CD209_uc010dvp.2_5'UTR|CD209_uc002mhr.2_5'UTR|CD209_uc002mhs.2_5'UTR|CD209_uc002mhu.2_Nonsense_Mutation_p.E16*|CD209_uc010dvq.2_Nonsense_Mutation_p.E16*|CD209_uc002mhq.2_5'UTR|CD209_uc002mhv.2_Nonsense_Mutation_p.E16*|CD209_uc002mhx.2_Missense_Mutation_p.V16L|CD209_uc002mhw.2_Missense_Mutation_p.V16L|CD209_uc010dvr.2_Nonsense_Mutation_p.E16* NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 16 Endocytosis signal (Potential).|Cytoplasmic (Probable). cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 CCAGCCTCACCCAGGAGGCCC 0.597 97 176 --- --- --- --- PASS ZNF561 93134 broad.mit.edu 37 19 9721953 9721953 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:9721953C>A uc002mlu.2 - 6 589 c.384G>T c.(382-384)AGG>AGT p.R128S ZNF561_uc010dwu.2_Missense_Mutation_p.R59S|ZNF561_uc010xkr.1_5'UTR NM_152289 NP_689502 Q8N587 ZN561_HUMAN zinc finger protein 561 128 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAAACTGTTCCCTGAAGACCT 0.418 43 104 --- --- --- --- PASS ZNF561 93134 broad.mit.edu 37 19 9721954 9721954 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:9721954C>A uc002mlu.2 - 6 588 c.383G>T c.(382-384)AGG>ATG p.R128M ZNF561_uc010dwu.2_Missense_Mutation_p.R59M|ZNF561_uc010xkr.1_Translation_Start_Site NM_152289 NP_689502 Q8N587 ZN561_HUMAN zinc finger protein 561 128 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAACTGTTCCCTGAAGACCTC 0.413 43 105 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10602887 10602887 + Missense_Mutation SNP G C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:10602887G>C uc002moq.1 - 3 847 c.691C>G c.(691-693)CTC>GTC p.L231V KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.L231V NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 231 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGGCTGATGAGGGTCACCAGT 0.612 32 49 --- --- --- --- PASS PIK3R2 5296 broad.mit.edu 37 19 18279624 18279624 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:18279624G>A uc002nia.1 + 15 2409 c.1897G>A c.(1897-1899)GAG>AAG p.E633K PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 633 SH2 2. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 CACGCAGGCAGAGGAGATGCT 0.657 12 28 --- --- --- --- PASS TM6SF2 53345 broad.mit.edu 37 19 19377390 19377390 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:19377390G>T uc002nmd.1 - 9 883 c.833C>A c.(832-834)CCT>CAT p.P278H HAPLN4_uc002nmc.2_5'UTR NM_001001524 NP_001001524 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 278 Helical; (Potential). integral to membrane 0 Epithelial(12;0.0151) GCCGCAGAAAGGCAGGACATA 0.612 4 62 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363828 22363828 + Missense_Mutation SNP C A A rs149990770 by1000genomes TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:22363828C>A uc002nqs.1 - 3 1009 c.691G>T c.(691-693)GGC>TGC p.G231C NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 231 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAAGCTTTGCCACATTCTTCA 0.353 11 169 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22942386 22942386 + Nonsense_Mutation SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:22942386T>A uc010xrh.1 - 4 388 c.388A>T c.(388-390)AAG>TAG p.K130* NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CGTAAATTCTTATGTCCACAT 0.338 27 55 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30935603 30935603 + Silent SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:30935603C>T uc002nsu.1 + 2 1272 c.1134C>T c.(1132-1134)TGC>TGT p.C378C ZNF536_uc010edd.1_Silent_p.C378C NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 378 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCCAGATCTGCGGCCGGCGCT 0.602 44 92 --- --- --- --- PASS WDR88 126248 broad.mit.edu 37 19 33642152 33642152 + Missense_Mutation SNP T G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:33642152T>G uc002nui.2 + 6 823 c.745T>G c.(745-747)TCA>GCA p.S249A NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 249 WD 4. ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) GGCTTCTGTCTCATTGGACAG 0.552 3 30 --- --- --- --- PASS DMKN 93099 broad.mit.edu 37 19 36004081 36004081 + Silent SNP G T T rs61742823 byFrequency TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:36004081G>T uc002nzm.3 - 1 480 c.297C>A c.(295-297)GTC>GTA p.V99V DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Silent_p.V99V|DMKN_uc002nzn.3_Silent_p.V99V|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Silent_p.V99V|DMKN_uc010eeb.2_Silent_p.V99V|DMKN_uc002oaa.3_Silent_p.V99V|DMKN_uc002oab.3_Silent_p.V99V NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN dermokine isoform 2 precursor 99 Gly-rich. extracellular region large_intestine(1)|ovary(1)|skin(1) 3 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CTGCTTCCCCGACCCTGTTGC 0.597 7 107 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36351813 36351813 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:36351813G>T uc002ocb.3 + 8 1143 c.931G>T c.(931-933)GGG>TGG p.G311W KIRREL2_uc002obz.3_Missense_Mutation_p.G311W|KIRREL2_uc002oca.3_Missense_Mutation_p.G261W|KIRREL2_uc002occ.3_Missense_Mutation_p.G258W|KIRREL2_uc002ocd.3_Missense_Mutation_p.G308W NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 311 Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCGTCCAGTTGGGCCGATTCT 0.652 10 41 --- --- --- --- PASS ZNF461 92283 broad.mit.edu 37 19 37129880 37129880 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:37129880A>G uc002oem.2 - 6 1595 c.1367T>C c.(1366-1368)CTC>CCC p.L456P ZNF461_uc002oen.2_Missense_Mutation_p.L425P|ZNF461_uc010xtj.1_Missense_Mutation_p.L433P NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 456 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATGTCTTTTGAGGTGTGAACA 0.398 3 93 --- --- --- --- PASS ZNF780A 284323 broad.mit.edu 37 19 40581177 40581177 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:40581177C>T uc002omy.2 - 6 1397 c.1172G>A c.(1171-1173)TGT>TAT p.C391Y ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.C391Y|ZNF780A_uc010xvh.1_Missense_Mutation_p.C392Y NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 391 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACATTCCTTACATTCAAACGG 0.408 127 231 --- --- --- --- PASS EML2 24139 broad.mit.edu 37 19 46127984 46127984 + Nonsense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:46127984C>T uc002pcn.2 - 9 869 c.834G>A c.(832-834)TGG>TGA p.W278* EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Nonsense_Mutation_p.W162*|EML2_uc010xxl.1_Nonsense_Mutation_p.W425*|EML2_uc010xxm.1_Nonsense_Mutation_p.W479*|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Nonsense_Mutation_p.W278*|EML2_uc010ekj.2_Intron|EML2_uc010ekk.1_RNA NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 278 WD 4. 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) GACCTTTGCCCCAAACATAGA 0.517 5 41 --- --- --- --- PASS PRKCG 5582 broad.mit.edu 37 19 54386432 54386432 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:54386432G>T uc002qcq.1 + 2 468 c.186G>T c.(184-186)CAG>CAT p.Q62H PRKCG_uc010eqz.1_Missense_Mutation_p.Q62H|PRKCG_uc010yef.1_Missense_Mutation_p.Q62H|PRKCG_uc010yeg.1_Missense_Mutation_p.Q62H|PRKCG_uc010yeh.1_5'Flank NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 62 Phorbol-ester/DAG-type 1. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TCGGAAAGCAGGGCCTGCAAT 0.642 38 47 --- --- --- --- PASS PRKCG 5582 broad.mit.edu 37 19 54401724 54401724 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:54401724G>A uc002qcq.1 + 11 1405 c.1123G>A c.(1123-1125)GAG>AAG p.E375K PRKCG_uc010yef.1_3'UTR|PRKCG_uc010yeg.1_Missense_Mutation_p.E375K|PRKCG_uc010yeh.1_Missense_Mutation_p.E262K NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 375 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GGGCTCTGATGAGCTCTACGC 0.602 42 71 --- --- --- --- PASS KIR3DL1 3811 broad.mit.edu 37 19 55341403 55341403 + Nonsense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr19:55341403G>T uc002qhk.3 + 8 1189 c.1126G>T c.(1126-1128)GAG>TAG p.E376* KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Nonsense_Mutation_p.E301*|KIR3DL1_uc010esf.2_Nonsense_Mutation_p.E281*|KIR3DL1_uc010yfo.1_Nonsense_Mutation_p.E318*|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 376 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) AATGGACCAAGAGCCTGCAGG 0.532 74 106 --- --- --- --- PASS JAG1 182 broad.mit.edu 37 20 10621761 10621761 + Silent SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:10621761A>T uc002wnw.2 - 24 3564 c.3048T>A c.(3046-3048)ATT>ATA p.I1016I NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 1016 Extracellular (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 TTATACTTACAATGGCCACAT 0.408 Alagille_Syndrome 57 134 --- --- --- --- PASS SEL1L2 80343 broad.mit.edu 37 20 13868482 13868482 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:13868482C>A uc010gcf.2 - 8 760 c.678G>T c.(676-678)TTG>TTT p.L226F SEL1L2_uc002woq.3_Missense_Mutation_p.L87F|SEL1L2_uc010zrl.1_Missense_Mutation_p.L226F|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 226 Sel1-like 4.|Extracellular (Potential). integral to membrane binding ovary(2) 2 TGATTCCCGACAAATATCTGT 0.299 39 210 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20493357 20493357 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:20493357C>G uc002wrz.2 - 32 4799 c.4656G>C c.(4654-4656)ATG>ATC p.M1552I RALGAPA2_uc010gcx.2_Missense_Mutation_p.M1256I|RALGAPA2_uc010zsg.1_Missense_Mutation_p.M1000I|RALGAPA2_uc002wsa.1_Missense_Mutation_p.M324I NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1552 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 GGTCATAGTTCATGCCACATG 0.398 45 151 --- --- --- --- PASS MYLK2 85366 broad.mit.edu 37 20 30408096 30408096 + Missense_Mutation SNP C G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:30408096C>G uc002wwq.2 + 3 322 c.220C>G c.(220-222)CAA>GAA p.Q74E NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 74 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AACTAGCAGCCAAGGCCCCAA 0.662 14 52 --- --- --- --- PASS C20orf160 140706 broad.mit.edu 37 20 30616834 30616834 + Missense_Mutation SNP C G G rs139147006 TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:30616834C>G uc002wxf.2 + 7 1119 c.1106C>G c.(1105-1107)GCG>GGG p.A369G C20orf160_uc002wxg.2_5'UTR NM_080625 NP_542192 Q9NUG4 CT160_HUMAN hypothetical protein LOC140706 Error:Variant_position_missing_in_Q9NUG4_after_alignment central_nervous_system(3)|ovary(1) 4 CATGTTACAGCGGCACGTCCA 0.602 28 84 --- --- --- --- PASS HCK 3055 broad.mit.edu 37 20 30689186 30689186 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:30689186G>T uc002wxh.2 + 13 1616 c.1445G>T c.(1444-1446)TGC>TTC p.C482F HCK_uc010gdy.2_Missense_Mutation_p.C461F|HCK_uc002wxi.2_Missense_Mutation_p.C460F NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 482 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCAGAGAACTGCCCAGAGGAG 0.547 9 52 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31678516 31678516 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:31678516C>A uc010zue.1 + 8 1069 c.1054C>A c.(1054-1056)CTG>ATG p.L352M NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 352 cytoplasm|extracellular region lipid binding 0 GCCTGCAGCTCTGATTCCTCT 0.597 10 59 --- --- --- --- PASS TOP1 7150 broad.mit.edu 37 20 39704813 39704813 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:39704813A>G uc002xjl.2 + 4 404 c.158A>G c.(157-159)GAA>GGA p.E53G TOP1_uc010gge.1_RNA NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 53 Lys-rich. DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) TTTTACAGTGAACATAAAGAT 0.224 T NUP98 AML* 32 111 --- --- --- --- PASS SPINT4 391253 broad.mit.edu 37 20 44351115 44351115 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:44351115C>A uc002xpe.1 + 1 128 c.109C>A c.(109-111)CTC>ATC p.L37I NM_178455 NP_848550 Q6UDR6 SPIT4_HUMAN serine peptidase inhibitor, Kunitz type 4 37 extracellular region serine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 Myeloproliferative disorder(115;0.028) ATGTGGAGACCTCAAAGGTAT 0.388 27 88 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47265955 47265955 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:47265955C>A uc002xtw.1 - 25 3211 c.3188G>T c.(3187-3189)GGC>GTC p.G1063V PREX1_uc002xtv.1_Missense_Mutation_p.G360V NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1063 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GAAGCTGAGGCCCCGGTCTTC 0.592 15 68 --- --- --- --- PASS SYCP2 10388 broad.mit.edu 37 20 58494628 58494628 + Missense_Mutation SNP T C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr20:58494628T>C uc002yaz.2 - 5 461 c.322A>G c.(322-324)AAG>GAG p.K108E SYCP2_uc010gju.1_Missense_Mutation_p.K9E NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 108 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ATAATGTCCTTGGATTTTTCA 0.294 23 78 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 18021972 18021972 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:18021972A>G uc010gqw.1 + 15 2200 c.2074A>G c.(2074-2076)ATA>GTA p.I692V CECR2_uc010gqv.1_Missense_Mutation_p.I551V|CECR2_uc002zml.2_Missense_Mutation_p.I551V NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 734 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) GCTTGGGCAGATAAGTGGCCC 0.602 9 42 --- --- --- --- PASS ATP6V1E1 529 broad.mit.edu 37 22 18077343 18077343 + Silent SNP T G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:18077343T>G uc002zmr.1 - 8 757 c.570A>C c.(568-570)ATA>ATC p.I190I ATP6V1E1_uc002zms.1_Silent_p.I160I|ATP6V1E1_uc002zmt.1_Silent_p.I168I NM_001696 NP_001687 P36543 VATE1_HUMAN vacuolar H+ ATPase E1 isoform a 190 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain protein binding|proton-transporting ATPase activity, rotational mechanism large_intestine(1)|central_nervous_system(1) 2 all_epithelial(15;0.206) Lung(27;0.19) TGGAAACCTTTATTTTACGAT 0.433 14 16 --- --- --- --- PASS CLTCL1 8218 broad.mit.edu 37 22 19203623 19203623 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:19203623G>A uc002zpb.2 - 19 3138 c.3063C>T c.(3061-3063)CAC>CAT p.H1021H CLTCL1_uc011agv.1_Silent_p.H1021H|CLTCL1_uc011agw.1_Silent_p.H1021H|CLTCL1_uc002zpe.2_5'Flank|CLTCL1_uc002zpd.1_5'Flank NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1021 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) AGCCTCACCTGTGCTCGCTGA 0.478 T ? ALCL 17 68 --- --- --- --- PASS RIMBP3 85376 broad.mit.edu 37 22 20457269 20457269 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:20457269C>A uc002zsd.3 - 1 4518 c.4033G>T c.(4033-4035)GCT>TCT p.A1345S NM_015672 NP_056487 RIMS binding protein 3 0 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) TCAAGGGCAGCCTTTTCCTGA 0.557 3 39 --- --- --- --- PASS PRAME 23532 broad.mit.edu 37 22 22890587 22890587 + Missense_Mutation SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:22890587T>A uc002zwf.2 - 5 1588 c.1432A>T c.(1432-1434)AGC>TGC p.S478C LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.S462C|PRAME_uc010gtr.2_Missense_Mutation_p.S478C|PRAME_uc002zwg.2_Missense_Mutation_p.S478C|PRAME_uc002zwh.2_Missense_Mutation_p.S478C|PRAME_uc002zwi.2_Missense_Mutation_p.S478C|PRAME_uc002zwj.2_Missense_Mutation_p.S478C|PRAME_uc002zwk.2_Missense_Mutation_p.S478C NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 478 Mediates interaction with RARA. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CAGACCATGCTGGGCCGCCCC 0.582 58 224 --- --- --- --- PASS TMEM211 255349 broad.mit.edu 37 22 25331525 25331525 + Silent SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:25331525G>A uc003abk.1 - 3 190 c.165C>T c.(163-165)ATC>ATT p.I55I NM_001001663 NP_001001663 Q6ICI0 TM211_HUMAN transmembrane protein 211 126 Helical; (Potential). integral to membrane 0 AGGCAAGGCCGATTGGGAAAA 0.517 4 177 --- --- --- --- PASS BPIL2 254240 broad.mit.edu 37 22 32838705 32838705 + Missense_Mutation SNP A T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:32838705A>T uc003amn.2 - 6 608 c.608T>A c.(607-609)ATT>AAT p.I203N BPIL2_uc010gwo.2_Missense_Mutation_p.I17N|BPIL2_uc011amb.1_Translation_Start_Site NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 203 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 TTCACTTGCAATAATGGGACA 0.438 4 96 --- --- --- --- PASS MCM5 4174 broad.mit.edu 37 22 35799497 35799497 + Missense_Mutation SNP A C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:35799497A>C uc003anu.3 + 4 479 c.385A>C c.(385-387)AAG>CAG p.K129Q MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Intron NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 129 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 GGTCATGCTCAAGTCGGACGC 0.453 80 151 --- --- --- --- PASS IL2RB 3560 broad.mit.edu 37 22 37539628 37539628 + Missense_Mutation SNP A C C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:37539628A>C uc003aqv.1 - 3 267 c.136T>G c.(136-138)TGT>GGT p.C46G NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 46 Extracellular (Potential). interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CTCCAGACACAGGAGATGTTG 0.592 28 105 --- --- --- --- PASS PLA2G6 8398 broad.mit.edu 37 22 38531000 38531000 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:38531000C>A uc003auy.1 - 6 1025 c.889G>T c.(889-891)GCA>TCA p.A297S PLA2G6_uc003auz.1_Missense_Mutation_p.A297S|PLA2G6_uc003ava.1_Missense_Mutation_p.A297S|PLA2G6_uc003avb.2_Missense_Mutation_p.A297S|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.A262S NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 297 ANK 5. cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) CTCACCTCTGCGTTCTTGGCC 0.657 43 65 --- --- --- --- PASS APOBEC3D 140564 broad.mit.edu 37 22 39427729 39427729 + Missense_Mutation SNP A G G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr22:39427729A>G uc011aoe.1 + 6 847 c.793A>G c.(793-795)AGG>GGG p.R265G APOBEC3D_uc011aof.1_Missense_Mutation_p.R81G|APOBEC3D_uc003awu.3_Missense_Mutation_p.R81G|APOBEC3D_uc003awt.3_Missense_Mutation_p.R265G|APOBEC3D_uc010gxu.2_Missense_Mutation_p.R61G NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 265 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 Melanoma(58;0.04) TCATGCAGAAAGGTGCTTCCT 0.577 162 242 --- --- --- --- PASS GK 2710 broad.mit.edu 37 X 30737553 30737553 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chrX:30737553G>A uc004dch.3 + 15 1251 c.1072G>A c.(1072-1074)GTA>ATA p.V358I GK_uc010ngj.2_Missense_Mutation_p.V352I|GK_uc004dci.3_Missense_Mutation_p.V352I|GK_uc011mjz.1_Missense_Mutation_p.V153I|GK_uc011mka.1_Missense_Mutation_p.V195I|GK_uc010ngk.2_Missense_Mutation_p.V147I NM_203391 NP_976325 P32189 GLPK_HUMAN glycerol kinase isoform a 358 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1) 1 TGCTAAAGAAGTAGGTACTTC 0.328 28 51 --- --- --- --- PASS NYX 60506 broad.mit.edu 37 X 41307170 41307170 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chrX:41307170C>A uc004dfh.2 + 1 458 c.28C>A c.(28-30)CTT>ATT p.L10I NYX_uc011mku.1_Missense_Mutation_p.L5I NM_022567 NP_072089 Q9GZU5 NYX_HUMAN nyctalopin precursor 10 response to stimulus|visual perception intracellular|proteinaceous extracellular matrix lung(2) 2 GTTGGTCCTGCTTCTGCATGG 0.597 3 39 --- --- --- --- PASS UBA1 7317 broad.mit.edu 37 X 47072255 47072255 + Missense_Mutation SNP G A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chrX:47072255G>A uc004dhj.3 + 22 2790 c.2639G>A c.(2638-2640)CGG>CAG p.R880Q UBA1_uc004dhk.3_Missense_Mutation_p.R880Q|UBA1_uc004dhm.2_Missense_Mutation_p.R328Q NM_153280 NP_695012 P22314 UBA1_HUMAN ubiquitin-activating enzyme E1 880 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity ovary(1) 1 TCTGCAGACCGGCACAAGGTG 0.493 12 55 --- --- --- --- PASS USP11 8237 broad.mit.edu 37 X 47101681 47101681 + Missense_Mutation SNP G T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chrX:47101681G>T uc004dhp.2 + 10 1509 c.1509G>T c.(1507-1509)ATG>ATT p.M503I USP11_uc004dhq.2_Missense_Mutation_p.M230I NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 503 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 TTATCCCCATGGATCCGCGCC 0.542 14 22 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50127723 50127723 + Missense_Mutation SNP C A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chrX:50127723C>A uc010njr.1 - 16 2507 c.2447G>T c.(2446-2448)CGA>CTA p.R816L NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 816 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) CTTACGGCGTCGTGGGCTTGT 0.398 94 156 --- --- --- --- PASS ATP7A 538 broad.mit.edu 37 X 77244009 77244009 + Missense_Mutation SNP C T T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chrX:77244009C>T uc004ecx.3 + 3 552 c.392C>T c.(391-393)CCT>CTT p.P131L ATP7A_uc004ecw.2_Missense_Mutation_p.P131L NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 131 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 ACAATAATCCCTTCTATAGTG 0.413 195 313 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154158967 154158967 + Missense_Mutation SNP T A A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chrX:154158967T>A uc004fmt.2 - 14 3269 c.3098A>T c.(3097-3099)CAC>CTC p.H1033L NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1033 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GCCATCAATGTGAGTCTTTCT 0.323 80 157 --- --- --- --- PASS OR2T35 403244 broad.mit.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - CA CA TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr1:248801602_248801603insCA uc001ies.1 - 1 957_958 c.957_958insTG c.(955-960)GTGATCfs p.V319fs NM_001001827 NP_001001827 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, 319_320 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTTCCTGATCACAGTCGCCA 0.545 6 3 --- --- --- --- A4GNT 51146 broad.mit.edu 37 3 137850015 137850015 + Frame_Shift_Del DEL G - - TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr3:137850015delG uc003ers.2 - 2 286 c.84delC c.(82-84)AGCfs p.S28fs NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 28 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 AGAAGAGGCAGCTGGACTTCA 0.557 72 63 --- --- --- --- SDR16C5 195814 broad.mit.edu 37 8 57219251 57219251 + Frame_Shift_Del DEL C - - TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr8:57219251delC uc003xsy.1 - 5 1332 c.694delG c.(694-696)GAAfs p.E232fs SDR16C5_uc010lyk.1_Frame_Shift_Del_p.E232fs|SDR16C5_uc010lyl.1_Frame_Shift_Del_p.E188fs NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN epidermal retinal dehydrogenase 2 232 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity ovary(1)|central_nervous_system(1)|skin(1) 3 GTACAACCTTCAAACATTCCA 0.303 113 49 --- --- --- --- C10orf71 118461 broad.mit.edu 37 10 50534969 50534970 + In_Frame_Ins INS - ACACACACACAC ACACACACACAC rs66701434 TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr10:50534969_50534970insACACACACACAC uc010qgp.1 + 4 2407_2408 c.2068_2069insACACACACACAC c.(2068-2070)AAC>AACACACACACACAC p.702_703insTHTH NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 Error:Variant_position_missing_in_Q711Q0_after_alignment 0 CAAAACAAGCAacacacacaca 0.406 4 2 --- --- --- --- IGDCC3 9543 broad.mit.edu 37 15 65628268 65628268 + Frame_Shift_Del DEL G - - TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chr15:65628268delG uc002aos.2 - 3 688 c.436delC c.(436-438)CAGfs p.Q146fs NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 146 Extracellular (Potential).|Ig-like C2-type 2. ovary(3) 3 ACGGTGGCCTGGGGATGCACG 0.597 56 37 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73067240 73067240 + RNA DEL T - - TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4 02d30282-dd1a-4a6a-bcf4-fbe06eb299c7 g.chrX:73067240delT uc004ebm.1 - 1 c.5349delA NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 ATTGTCTTACttttttttttt 0.239 4 2 --- --- --- ---