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 RERE 473 broad.mit.edu 37 1 8416169 8416169 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:8416169G>T uc001ape.2 - 22 5287 c.4477C>A c.(4477-4479)CCA>ACA p.P1493T RERE_uc001apf.2_Missense_Mutation_p.P1493T|RERE_uc001apd.2_Missense_Mutation_p.P939T NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1493 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCGAAAACTGGGTGGCGAAGC 0.587 6 85 --- --- --- --- PASS PRAMEF12 390999 broad.mit.edu 37 1 12835767 12835767 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:12835767C>A uc001aui.2 + 2 396 c.369C>A c.(367-369)TCC>TCA p.S123S NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 123 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGCACTCTCCCCAGAGGCCC 0.537 6 109 --- --- --- --- PASS PIK3R3 8503 broad.mit.edu 37 1 46511683 46511683 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:46511683C>A uc001cpb.3 - 9 1850 c.1094G>T c.(1093-1095)CGA>CTA p.R365L PIK3R3_uc009vyb.2_Missense_Mutation_p.R306L|PIK3R3_uc009vyc.2_Missense_Mutation_p.R382L|PIK3R3_uc001cpc.3_Missense_Mutation_p.R365L|PIK3R3_uc010olw.1_Missense_Mutation_p.R411L|PIK3R3_uc010olv.1_Missense_Mutation_p.R155L NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 365 SH2 2. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) TGCTTGTACTCGATTGATATC 0.373 4 81 --- --- --- --- PASS SLC5A9 200010 broad.mit.edu 37 1 48701497 48701497 + Missense_Mutation SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:48701497T>C uc001cro.2 + 10 1290 c.1238T>C c.(1237-1239)GTG>GCG p.V413A SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.V438A|SLC5A9_uc010omt.1_Missense_Mutation_p.V427A|SLC5A9_uc001crp.2_Missense_Mutation_p.V80A|SLC5A9_uc010omu.1_Missense_Mutation_p.V80A NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 413 Cytoplasmic (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 ACCATTGATGTGTGGCAGCGC 0.617 15 34 --- --- --- --- PASS PRPF38A 84950 broad.mit.edu 37 1 52870481 52870481 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:52870481G>T uc001ctv.3 + 1 263 c.60G>T c.(58-60)CTG>CTT p.L20L ORC1L_uc001ctt.2_5'Flank|ORC1L_uc010oni.1_5'Flank|ORC1L_uc001ctu.2_5'Flank|ORC1L_uc009vzd.2_5'Flank|PRPF38A_uc001ctw.3_5'UTR NM_032864 NP_116253 Q8NAV1 PR38A_HUMAN PRP38 pre-mRNA processing factor 38 (yeast) 20 mRNA processing|RNA splicing spliceosomal complex 0 CTCAATATCTGGTGGAGAAGA 0.483 OREG0013487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 115 --- --- --- --- PASS USP24 23358 broad.mit.edu 37 1 55572963 55572963 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:55572963G>A uc001cyg.3 - 37 4231 c.4231C>T c.(4231-4233)CGC>TGC p.R1411C NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 1571 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 TTGATGAGGCGTAAGTGCCCT 0.453 19 46 --- --- --- --- PASS GBP2 2634 broad.mit.edu 37 1 89579960 89579960 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:89579960C>T uc001dmz.1 - 7 1159 c.888G>A c.(886-888)CTG>CTA p.L296L GBP2_uc001dmy.1_RNA NM_004120 NP_004111 P32456 GBP2_HUMAN guanylate binding protein 2, 296 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1) 1 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) TGACGTAGGTCAGCACCAGGC 0.483 8 48 --- --- --- --- PASS GLMN 11146 broad.mit.edu 37 1 92733508 92733508 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:92733508G>T uc001dor.2 - 11 1175 c.1060C>A c.(1060-1062)CAG>AAG p.Q354K GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.Q354K NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 354 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TCTAAGTACTGGTAAAGTAGA 0.313 Multiple_Glomus_Tumors_(of_the_Skin)_Familial 5 68 --- --- --- --- PASS SORT1 6272 broad.mit.edu 37 1 109883449 109883449 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:109883449G>A uc001dxm.1 - 10 1210 c.1161C>T c.(1159-1161)TCC>TCT p.S387S SORT1_uc010ovi.1_Silent_p.S250S NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 387 BNR 6.|Extracellular (Potential). endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) CCAAAGACTTGGAATAGACAA 0.483 8 42 --- --- --- --- PASS ATXN7L2 127002 broad.mit.edu 37 1 110033990 110033990 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:110033990C>T uc001dxr.2 + 10 1820 c.1805C>T c.(1804-1806)TCG>TTG p.S602L ATXN7L2_uc001dxs.2_Missense_Mutation_p.S229L|ATXN7L2_uc001dxt.2_Missense_Mutation_p.S105L|CYB561D1_uc010ovl.1_5'Flank|CYB561D1_uc010ovm.1_5'Flank|CYB561D1_uc001dxu.2_5'Flank|CYB561D1_uc001dxw.2_5'Flank|CYB561D1_uc010ovn.1_5'Flank|CYB561D1_uc010ovo.1_5'Flank|CYB561D1_uc009wfd.2_5'Flank|CYB561D1_uc010ovp.1_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 602 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) AGGGGCCTCTCGGCCAAAACT 0.587 10 45 --- --- --- --- PASS KCNA3 3738 broad.mit.edu 37 1 111216270 111216270 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:111216270C>G uc001dzv.1 - 1 1386 c.1162G>C c.(1162-1164)GGG>CGG p.G388R NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 388 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCGTTTGCCCGAGGATCTGC 0.587 13 71 --- --- --- --- PASS C1orf88 128344 broad.mit.edu 37 1 111891246 111891246 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:111891246C>A uc001eaw.2 + 4 447 c.367C>A c.(367-369)CCA>ACA p.P123T C1orf88_uc001eax.2_Missense_Mutation_p.P90T|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_Missense_Mutation_p.P36T NM_181643 NP_857594 Q8TCI5 CA088_HUMAN hypothetical protein LOC128344 123 ovary(1)|skin(1) 2 all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135) TAAGAACTACCCAAAGGACAC 0.403 9 255 --- --- --- --- PASS ANKRD35 148741 broad.mit.edu 37 1 145562806 145562806 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:145562806C>A uc001eob.1 + 10 2602 c.2494C>A c.(2494-2496)CTA>ATA p.L832I NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.L675I NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 832 ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGCAGCCAGCCTACGGCAACA 0.602 4 8 --- --- --- --- PASS PLEKHO1 51177 broad.mit.edu 37 1 150131510 150131510 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:150131510G>C uc001ett.2 + 6 1300 c.1022G>C c.(1021-1023)CGG>CCG p.R341P PLEKHO1_uc001etr.2_Missense_Mutation_p.R169P|PLEKHO1_uc001ets.2_Missense_Mutation_p.R158P|PLEKHO1_uc001etu.2_Missense_Mutation_p.R169P NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 341 Negative regulator of AP-1 activity. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GACCCCCCTCGGTCTCCGCCG 0.602 6 28 --- --- --- --- PASS GOLPH3L 55204 broad.mit.edu 37 1 150634405 150634405 + Splice_Site SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:150634405C>A uc001evj.2 - 4 533 c.316_splice c.e4-1 p.V106_splice GOLPH3L_uc010pci.1_Splice_Site_p.V62_splice NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Golgi phosphoprotein 3-like Golgi cisterna membrane ovary(1) 1 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TTAGCAGTACCTTTGAGAAAA 0.363 5 60 --- --- --- --- PASS PSMB4 5692 broad.mit.edu 37 1 151372089 151372089 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:151372089C>T uc001eyc.1 + 1 49 c.26C>T c.(25-27)TCC>TTC p.S9F PSMB4_uc010pda.1_Missense_Mutation_p.S9F|PSMB4_uc001eyb.1_Missense_Mutation_p.S9F NM_002796 NP_002787 P28070 PSB4_HUMAN proteasome beta 4 subunit 9 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGGTCGCGGTCCGGACTTTGG 0.552 12 67 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152276145 152276145 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:152276145G>A uc001ezu.1 - 3 11253 c.11217C>T c.(11215-11217)CAC>CAT p.H3739H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3739 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGCCTGCTCGTGGCGGGATC 0.602 Ichthyosis 87 127 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152326835 152326835 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:152326835G>C uc001ezw.3 - 3 3500 c.3427C>G c.(3427-3429)CAG>GAG p.Q1143E uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1143 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TACTCATGCTGTGCAAAGCCA 0.527 23 147 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156503909 156503909 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:156503909C>T uc001fpf.2 - 30 3840 c.3765G>A c.(3763-3765)CAG>CAA p.Q1255Q NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1255 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCTCTGGCACCTGGCAGGCTC 0.592 7 52 --- --- --- --- PASS FCRL1 115350 broad.mit.edu 37 1 157771327 157771327 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:157771327G>T uc001frg.2 - 6 1040 c.927C>A c.(925-927)GTC>GTA p.V309V FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.V309V|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 309 Helical; (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCCCCTCAATGACTCCTGAGG 0.507 17 37 --- --- --- --- PASS OR10J1 26476 broad.mit.edu 37 1 159409868 159409868 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:159409868G>T uc010piv.1 + 1 320 c.320G>T c.(319-321)GGG>GTG p.G107V uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 107 Extracellular (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) TCATTGGCAGGGTGTGCCACA 0.493 5 34 --- --- --- --- PASS FCGR3A 2214 broad.mit.edu 37 1 161518412 161518412 + Nonsense_Mutation SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:161518412T>A uc001gat.3 - 4 255 c.118A>T c.(118-120)AAG>TAG p.K40* FCGR3A_uc001gar.2_Nonsense_Mutation_p.K76*|FCGR3A_uc001gas.2_Nonsense_Mutation_p.K75*|FCGR3A_uc009wuh.2_Nonsense_Mutation_p.K39*|FCGR3A_uc009wui.2_Nonsense_Mutation_p.K40* NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 40 Ig-like C2-type 1.|Extracellular (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACACTGTCCTTCTCGAGCACC 0.552 17 66 --- --- --- --- PASS BLZF1 8548 broad.mit.edu 37 1 169356240 169356240 + Silent SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:169356240A>G uc001gfx.1 + 7 1460 c.1023A>G c.(1021-1023)CTA>CTG p.L341L BLZF1_uc001gfy.2_Silent_p.L341L|BLZF1_uc009wvp.1_Silent_p.*245* NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 341 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) CTTAGGTTCTAAGAATTTTAG 0.328 4 36 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179503957 179503957 + Missense_Mutation SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:179503957A>T uc001gmo.2 + 25 3018 c.2891A>T c.(2890-2892)GAG>GTG p.E964V C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E890V|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 964 Glu-rich. 0 AAAGATCTAGAGGAATTAGTC 0.244 6 46 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 179966093 179966093 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:179966093C>A uc001gnt.2 + 6 1184 c.801C>A c.(799-801)TCC>TCA p.S267S CEP350_uc001gnr.1_Silent_p.S241S|CEP350_uc009wxl.2_Silent_p.S266S|CEP350_uc001gnu.2_Silent_p.S101S NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 267 centrosome|nucleus|spindle ovary(4) 4 CTTCTAATTCCCAAAGATTAG 0.378 7 84 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186276847 186276847 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:186276847C>A uc001gru.3 + 7 2047 c.1996C>A c.(1996-1998)CCC>ACC p.P666T PRG4_uc001grt.3_Missense_Mutation_p.P625T|PRG4_uc009wyl.2_Missense_Mutation_p.P573T|PRG4_uc009wym.2_Missense_Mutation_p.P532T|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 666 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|38; approximate. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 GGAGCCTGCTCCCACCACTCC 0.667 5 52 --- --- --- --- PASS ATP6V1G3 127124 broad.mit.edu 37 1 198509707 198509707 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:198509707G>C uc001gup.2 - 2 180 c.74C>G c.(73-75)GCC>GGC p.A25G ATP6V1G3_uc009wzd.2_Missense_Mutation_p.A25G|ATP6V1G3_uc001guo.2_Missense_Mutation_p.A25G NM_133262 NP_573569 Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal, V1 subunit 25 Potential. cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1) 1 ACTCTTCTTGGCTTCCTCTAG 0.378 18 59 --- --- --- --- PASS LAX1 54900 broad.mit.edu 37 1 203741202 203741202 + Missense_Mutation SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:203741202A>G uc001haa.2 + 4 727 c.317A>G c.(316-318)CAT>CGT p.H106R LAX1_uc010pql.1_Missense_Mutation_p.H90R|LAX1_uc001hab.2_Missense_Mutation_p.H30R NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 106 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) TCAGGGAGACATGAGTCGAGG 0.493 23 41 --- --- --- --- PASS IARS2 55699 broad.mit.edu 37 1 220287687 220287687 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:220287687G>T uc001hmc.2 + 12 1615 c.1511G>T c.(1510-1512)GGA>GTA p.G504V NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 504 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TTTATTCCTGGATCAGCACTG 0.373 34 71 --- --- --- --- PASS HHIPL2 79802 broad.mit.edu 37 1 222717191 222717191 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:222717191G>C uc001hnh.1 - 2 720 c.662C>G c.(661-663)TCC>TGC p.S221C NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 221 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) ATGGACCATGGAGACGGGGTT 0.637 13 32 --- --- --- --- PASS KIAA1804 84451 broad.mit.edu 37 1 233497839 233497839 + Missense_Mutation SNP T G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:233497839T>G uc001hvt.3 + 5 1613 c.1352T>G c.(1351-1353)CTG>CGG p.L451R KIAA1804_uc001hvs.1_Missense_Mutation_p.L451R NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 451 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) CGGGCGGCTCTGCAGCAGAAG 0.582 4 8 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 240966246 240966246 + Silent SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:240966246T>A uc001hyv.2 - 16 1647 c.1317A>T c.(1315-1317)ATA>ATT p.I439I RGS7_uc010pyh.1_Silent_p.I413I|RGS7_uc010pyj.1_Silent_p.I355I|RGS7_uc001hyu.2_Silent_p.I439I|RGS7_uc009xgn.1_Silent_p.I386I|RGS7_uc001hyw.2_Silent_p.I439I|RGS7_uc001hyt.2_Silent_p.I271I NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 439 RGS. 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) CACTGGATCTTATAAAACGTG 0.348 36 59 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241033393 241033393 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:241033393G>T uc001hyv.2 - 7 742 c.412C>A c.(412-414)CAA>AAA p.Q138K RGS7_uc010pyh.1_Missense_Mutation_p.Q112K|RGS7_uc010pyj.1_Missense_Mutation_p.Q54K|RGS7_uc001hyu.2_Missense_Mutation_p.Q138K|RGS7_uc009xgn.1_Missense_Mutation_p.Q85K|RGS7_uc001hyw.2_Missense_Mutation_p.Q138K|RGS7_uc001hyt.2_5'Flank NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 138 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) GCCTTGTTTTGCATTGTTCTC 0.428 32 60 --- --- --- --- PASS SMYD3 64754 broad.mit.edu 37 1 246078937 246078937 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:246078937G>T uc001ibl.2 - 8 803 c.708C>A c.(706-708)ACC>ACA p.T236T SMYD3_uc001ibk.2_Silent_p.T177T|SMYD3_uc001ibi.2_Silent_p.T47T|SMYD3_uc001ibj.2_Silent_p.T47T NM_022743 NP_073580 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 236 SET. cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding 0 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) GGTAGCAGATGGTGAGCTGTG 0.473 6 53 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247588746 247588746 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:247588746C>A uc001icr.2 + 5 2139 c.2001C>A c.(1999-2001)TCC>TCA p.S667S NLRP3_uc001ics.2_Silent_p.S667S|NLRP3_uc001icu.2_Silent_p.S667S|NLRP3_uc001icw.2_Silent_p.S667S|NLRP3_uc001icv.2_Silent_p.S667S|NLRP3_uc010pyw.1_Silent_p.S665S|NLRP3_uc001ict.1_Silent_p.S665S NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 667 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGGTTTCTTCCTTTTGCATTG 0.512 5 36 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978831 247978831 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:247978831C>A uc001idm.1 - 1 201 c.201G>T c.(199-201)TTG>TTT p.L67F NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGCAGAGATCCAAGAAAGATA 0.433 5 76 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248263099 248263099 + Missense_Mutation SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:248263099T>A uc001ids.2 + 3 759 c.422T>A c.(421-423)GTG>GAG p.V141E NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|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;0.0132) ATGATGTGTGTGAAGATGATT 0.488 41 132 --- --- --- --- PASS OR2M3 127062 broad.mit.edu 37 1 248367107 248367107 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:248367107G>T uc010pzg.1 + 1 738 c.738G>T c.(736-738)TTG>TTT p.L246F NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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) CTCACCTCTTGGTGGTGGGAA 0.483 18 128 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248570351 248570351 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:248570351G>T uc010pzm.1 + 1 1056 c.1056G>T c.(1054-1056)AAG>AAT p.K352N NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 352 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAGCTCTGAAGAGGGCCTTGG 0.517 7 132 --- --- --- --- PASS OR2T27 403239 broad.mit.edu 37 1 248814146 248814146 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr1:248814146G>A uc010pzo.1 - 1 40 c.40C>T c.(40-42)CTT>TTT p.L14F NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAACCCAGAAGGATAAAGTCG 0.448 8 41 --- --- --- --- PASS TSSC1 7260 broad.mit.edu 37 2 3197910 3197910 + Missense_Mutation SNP G T T rs148611386 by1000genomes TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:3197910G>T uc002qxj.2 - 7 874 c.681C>A c.(679-681)CAC>CAA p.H227Q TSSC1_uc002qxi.2_RNA NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 227 WD 3. protein binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) CCAGCTGTCCGTGGGCATTCT 0.507 4 87 --- --- --- --- PASS DDX1 1653 broad.mit.edu 37 2 15770902 15770902 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:15770902G>T uc002rce.2 + 26 2383 c.2095G>T c.(2095-2097)GGA>TGA p.G699* NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 699 Necessary for interaction with HNRNPK. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TGATGCAGGTGGAAGCTATAA 0.403 7 175 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21255260 21255260 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:21255260C>A uc002red.2 - 10 1446 c.1318G>T c.(1318-1320)GCC>TCC p.A440S NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 440 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TACAAGGTGGCTCGGCTGCGC 0.562 31 48 --- --- --- --- PASS C2orf71 388939 broad.mit.edu 37 2 29296003 29296003 + Silent SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:29296003T>C uc002rmt.1 - 1 1125 c.1125A>G c.(1123-1125)CCA>CCG p.P375P NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 375 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 CTTCGGGCTCTGGTGCAAGGT 0.577 12 39 --- --- --- --- PASS NLRC4 58484 broad.mit.edu 37 2 32449823 32449823 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:32449823C>A uc002roi.2 - 9 3040 c.2794G>T c.(2794-2796)GGA>TGA p.G932* NLRC4_uc002roj.1_Nonsense_Mutation_p.G932*|NLRC4_uc010ezt.1_Nonsense_Mutation_p.G267* NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 932 LRR 11. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGGTTCTTTCCAAAAAATGCA 0.328 5 55 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33246006 33246006 + Missense_Mutation SNP G T T rs148571124 TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:33246006G>T uc002ros.2 + 3 596 c.596G>T c.(595-597)GGG>GTG p.G199V NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 199 EGF-like 1. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CAGAATGGAGGGATGTGTCTC 0.488 9 259 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37283723 37283723 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:37283723C>A uc002rpp.1 - 16 2355 c.2259G>T c.(2257-2259)CTG>CTT p.L753L NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 753 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GATCATGCTCCAGAGCCCCAC 0.448 6 139 --- --- --- --- PASS GALM 130589 broad.mit.edu 37 2 38956735 38956735 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:38956735G>T uc002rqy.2 + 5 924 c.672G>T c.(670-672)CTG>CTT p.L224L NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 224 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) CATTCGACCTGAGAAAGCCAG 0.443 6 110 --- --- --- --- PASS C2orf61 285051 broad.mit.edu 37 2 47357337 47357337 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:47357337G>T uc002rvs.2 - 4 589 c.462C>A c.(460-462)TCC>TCA p.S154S C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Silent_p.S154S NM_173649 NP_775920 Q8N801 CB061_HUMAN hypothetical protein LOC285051 isoform 2 154 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) ATAATTACCTGGAAGCATATT 0.403 6 60 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50318467 50318467 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:50318467G>T uc010fbp.2 - 3 1414 c.607C>A c.(607-609)CCT>ACT p.P203T NRXN1_uc002rxb.3_Missense_Mutation_p.P910T|NRXN1_uc010fbq.2_Missense_Mutation_p.P1278T|NRXN1_uc002rxe.3_Missense_Mutation_p.P1238T NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 203 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTACCTGCAGGGTAGCGCTCG 0.448 9 176 --- --- --- --- PASS ERLEC1 27248 broad.mit.edu 37 2 54036405 54036405 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:54036405C>A uc002rxl.2 + 10 1376 c.1096C>A c.(1096-1098)CAT>AAT p.H366N ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.H366N|ERLEC1_uc002rxn.2_Missense_Mutation_p.H312N NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN erlectin isoform 1 366 PRKCSH 2. ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding ovary(2) 2 ACATCAATACCATGAGGTATA 0.318 5 78 --- --- --- --- PASS PUS10 150962 broad.mit.edu 37 2 61194650 61194650 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:61194650G>T uc010fci.2 - 6 662 c.602C>A c.(601-603)CCC>CAC p.P201H PUS10_uc002sao.2_Missense_Mutation_p.P201H|PUS10_uc010ypk.1_5'UTR NM_144709 NP_653310 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 201 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding ovary(2)|large_intestine(1)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) TCCATCAATGGGAACACCCAG 0.383 7 153 --- --- --- --- PASS PUS10 150962 broad.mit.edu 37 2 61194689 61194689 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:61194689C>A uc010fci.2 - 6 623 c.563G>T c.(562-564)TGG>TTG p.W188L PUS10_uc002sao.2_Missense_Mutation_p.W188L|PUS10_uc010ypk.1_5'UTR NM_144709 NP_653310 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 188 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding ovary(2)|large_intestine(1)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) GTGAGTTATCCATTTGTAGGC 0.363 8 208 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73678881 73678881 + Nonsense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:73678881C>T uc002sje.1 + 10 5341 c.5230C>T c.(5230-5232)CAA>TAA p.Q1744* ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q1700*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.Q1130*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q1130* NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1742 34 X 47 AA approximate tandem repeat.|26. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AGCTGTTCCTCAACCAGCTGA 0.428 12 133 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73717021 73717021 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:73717021C>A uc002sje.1 + 12 8049 c.7938C>A c.(7936-7938)TCC>TCA p.S2646S ALMS1_uc002sjf.1_Silent_p.S2602S|ALMS1_uc002sjg.2_Silent_p.S2032S|ALMS1_uc002sjh.1_Silent_p.S2032S NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2644 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTTGGAATTCCTTGCAGTTAA 0.423 6 79 --- --- --- --- PASS DNAH6 1768 broad.mit.edu 37 2 84775477 84775477 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:84775477G>T uc010fgb.2 + 8 1389 c.1252G>T c.(1252-1254)GAC>TAC p.D418Y DNAH6_uc002soo.2_5'UTR|DNAH6_uc002sop.2_5'UTR NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy polypeptide 6 418 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity central_nervous_system(1) 1 CACTTATGGAGACTCTGAGAA 0.368 24 51 --- --- --- --- PASS USP39 10713 broad.mit.edu 37 2 85850862 85850862 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:85850862C>A uc002sqe.2 + 4 563 c.527C>A c.(526-528)CCA>CAA p.P176Q USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Missense_Mutation_p.P98Q|USP39_uc010ysv.1_Missense_Mutation_p.P73Q|USP39_uc010fgn.1_Missense_Mutation_p.P176Q|USP39_uc002sqf.2_Missense_Mutation_p.P176Q|USP39_uc002sqg.2_Missense_Mutation_p.P176Q|USP39_uc010fgo.2_Missense_Mutation_p.P176Q NM_006590 NP_006581 Q53GS9 SNUT2_HUMAN ubiquitin specific protease 39 176 UBP-type. spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding ovary(1) 1 TACTGCCTTCCAGACAACTAT 0.493 8 151 --- --- --- --- PASS EIF2AK3 9451 broad.mit.edu 37 2 88885387 88885387 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:88885387C>T uc002stc.3 - 9 1824 c.1622G>A c.(1621-1623)CGC>CAC p.R541H NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 541 Cytoplasmic (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GAAAAGCCTGCGCACAATAAA 0.308 16 41 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98412760 98412760 + Missense_Mutation SNP A C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:98412760A>C uc002syh.3 - 28 3350 c.3121T>G c.(3121-3123)TGT>GGT p.C1041G NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1041 integral to membrane ovary(4)|central_nervous_system(2) 6 TATCCTTCACATGAGTATCCA 0.303 4 7 --- --- --- --- PASS IMP4 92856 broad.mit.edu 37 2 131103469 131103469 + Missense_Mutation SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:131103469T>C uc002tra.1 + 6 574 c.557T>C c.(556-558)CTC>CCC p.L186P NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 186 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) AAGCCCCACCTCATCACACAC 0.637 5 25 --- --- --- --- PASS IMP4 92856 broad.mit.edu 37 2 131103470 131103470 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:131103470C>T uc002tra.1 + 6 575 c.558C>T c.(556-558)CTC>CTT p.L186L NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 186 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) AGCCCCACCTCATCACACACG 0.637 5 26 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141081591 141081591 + Missense_Mutation SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:141081591A>T uc002tvj.1 - 81 13357 c.12385T>A c.(12385-12387)TAT>AAT p.Y4129N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4129 Extracellular (Potential). 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) CCTGCTCCATATATATAATCT 0.294 TSP Lung(27;0.18) 34 36 --- --- --- --- PASS TANK 10010 broad.mit.edu 37 2 162087607 162087607 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:162087607G>T uc002ubr.1 + 7 804 c.646G>T c.(646-648)GGA>TGA p.G216* TANK_uc002ubs.2_Nonsense_Mutation_p.G216* NM_004180 NP_004171 Q92844 TANK_HUMAN TRAF interacting protein TANK isoform a 216 cytosol metal ion binding|protein binding ovary(1) 1 CACACCAAGAGGACTGTGCAG 0.403 6 91 --- --- --- --- PASS GORASP2 26003 broad.mit.edu 37 2 171822450 171822450 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:171822450C>G uc002ugk.2 + 10 1309 c.1169C>G c.(1168-1170)ACC>AGC p.T390S GORASP2_uc002ugj.2_Missense_Mutation_p.T322S|GORASP2_uc010zdl.1_Missense_Mutation_p.T402S|GORASP2_uc010zdm.1_Missense_Mutation_p.T346S|GORASP2_uc002ugl.2_Missense_Mutation_p.T322S|GORASP2_uc002ugm.2_Missense_Mutation_p.T172S NM_015530 NP_056345 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2 390 Golgi membrane breast(1)|central_nervous_system(1) 2 CTCCCGCCCACCAGCAACGCA 0.637 8 38 --- --- --- --- PASS SP3 6670 broad.mit.edu 37 2 174777852 174777852 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:174777852C>A uc002uig.2 - 6 2139 c.1975G>T c.(1975-1977)GGT>TGT p.G659C SP3_uc002uie.2_Missense_Mutation_p.G591C|SP3_uc002uif.2_Missense_Mutation_p.G606C|SP3_uc010zel.1_Missense_Mutation_p.G656C NM_003111 NP_003102 Q02447 SP3_HUMAN Sp3 transcription factor isoform 1 659 C2H2-type 2. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.185) AATCTTTTACCACAGTACATC 0.398 5 67 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098957 178098957 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:178098957G>A uc002ulh.3 - 2 643 c.88C>T c.(88-90)CTT>TTT p.L30F NFE2L2_uc002ulg.3_Missense_Mutation_p.L14F|NFE2L2_uc010zfa.1_Missense_Mutation_p.L14F|NFE2L2_uc002uli.3_Missense_Mutation_p.L14F|NFE2L2_uc010fra.2_Missense_Mutation_p.L14F|NFE2L2_uc010frb.2_Missense_Mutation_p.L14F NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 30 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) CTTACTCCAAGATCTATATCT 0.368 Mis NSCLC|HNSCC HNSCC(56;0.16) 11 102 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179407938 179407938 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:179407938G>T uc010zfg.1 - 296 89282 c.89058C>A c.(89056-89058)ACC>ACA p.T29686T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T23381T|TTN_uc010zfi.1_Silent_p.T23314T|TTN_uc010zfj.1_Silent_p.T23189T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30613 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGGTTTTAAGGTGACAACCT 0.448 14 504 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179416982 179416982 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:179416982G>T uc010zfg.1 - 284 83165 c.82941C>A c.(82939-82941)GTC>GTA p.V27647V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V21342V|TTN_uc010zfi.1_Silent_p.V21275V|TTN_uc010zfj.1_Silent_p.V21150V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28574 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTAATGGGGACTGCAATTC 0.408 22 233 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179438954 179438954 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:179438954C>A uc010zfg.1 - 275 64425 c.64201G>T c.(64201-64203)GGA>TGA p.G21401* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.G15096*|TTN_uc010zfi.1_Nonsense_Mutation_p.G15029*|TTN_uc010zfj.1_Nonsense_Mutation_p.G14904* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22328 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCCACCGTCCATTAGGAAGG 0.413 18 102 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179604870 179604870 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:179604870C>T uc010zfh.1 - 46 12801 c.12577G>A c.(12577-12579)GTG>ATG p.V4193M TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.V4126M|TTN_uc010zfj.1_Missense_Mutation_p.V4001M|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTATTGCCACGGGCTCTCTT 0.448 33 163 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179611618 179611618 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:179611618G>T uc002unb.2 - 46 15733 c.15509C>A c.(15508-15510)CCC>CAC p.P5170H TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCTTCATTGGGTGTACCAAA 0.408 8 184 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179614291 179614291 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:179614291C>A uc002unb.2 - 46 13060 c.12836G>T c.(12835-12837)GGA>GTA p.G4279V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACAGATTCTCCCTGGTCTTG 0.373 21 93 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179736207 179736207 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:179736207G>T uc002unf.1 - 4 484 c.427C>A c.(427-429)CAG>AAG p.Q143K NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 143 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) AAAATGAACTGGAGGCTCCCT 0.388 10 289 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189927594 189927594 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:189927594C>A uc002uqk.2 - 29 2249 c.1974G>T c.(1972-1974)CCG>CCT p.P658P COL5A2_uc010frx.2_Silent_p.P234P NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 658 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CACATACCGGCGGGCCCACAG 0.398 4 66 --- --- --- --- PASS HIBCH 26275 broad.mit.edu 37 2 191117026 191117026 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:191117026G>T uc002uru.2 - 8 608 c.525C>A c.(523-525)TTC>TTA p.F175L HIBCH_uc002urv.2_Missense_Mutation_p.F175L NM_014362 NP_055177 Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-Coenzyme A hydrolase isoform 175 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) CCACATCAGGGAACAGTCCTG 0.363 13 22 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196636525 196636525 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:196636525G>A uc002utj.3 - 61 11393 c.11292C>T c.(11290-11292)TTC>TTT p.F3764F DNAH7_uc002uti.3_Silent_p.F247F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3764 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CCTCGATGTCGAAGTTGTTTG 0.448 16 150 --- --- --- --- PASS CCDC150 284992 broad.mit.edu 37 2 197541356 197541356 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:197541356G>A uc002utp.1 + 12 1476 c.1341G>A c.(1339-1341)GAG>GAA p.E447E CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_RNA|CCDC150_uc010zgs.1_Silent_p.E115E NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 447 Potential. 0 TGCAAAAAGAGCTGCTAGAAT 0.428 23 68 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198948853 198948853 + Silent SNP T G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:198948853T>G uc010fsp.2 + 2 903 c.612T>G c.(610-612)GTT>GTG p.V204V PLCL1_uc002uuv.3_Silent_p.V125V NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 204 PH.|Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TGGACCTAGTTGCCAATTCAG 0.478 12 79 --- --- --- --- PASS SPATS2L 26010 broad.mit.edu 37 2 201337626 201337626 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:201337626G>T uc002uvn.3 + 12 1484 c.1132G>T c.(1132-1134)GCA>TCA p.A378S SPATS2L_uc010fst.2_Missense_Mutation_p.A378S|SPATS2L_uc002uvo.3_Missense_Mutation_p.A318S|SPATS2L_uc002uvp.3_Missense_Mutation_p.A378S|SPATS2L_uc002uvq.3_Missense_Mutation_p.A309S|SPATS2L_uc002uvr.3_Missense_Mutation_p.A378S|SPATS2L_uc010zhc.1_Missense_Mutation_p.A408S NM_015535 NP_056350 Q9NUQ6 SPS2L_HUMAN SPATS2-like protein isoform a 378 cytoplasm|nucleolus ovary(2)|pancreas(1) 3 GAATGCGCACGCAGCAACCTC 0.478 6 62 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201507519 201507519 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:201507519G>C uc002uvx.2 + 25 2943 c.2842G>C c.(2842-2844)GAG>CAG p.E948Q AOX1_uc010zhf.1_Missense_Mutation_p.E504Q|AOX1_uc010fsu.2_Missense_Mutation_p.E314Q NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 948 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACTATCCCCTGAGAAGGTAAT 0.323 7 43 --- --- --- --- PASS MAP2 4133 broad.mit.edu 37 2 210557999 210557999 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:210557999G>A uc002vde.1 + 7 1353 c.1105G>A c.(1105-1107)GAA>AAA p.E369K MAP2_uc002vdc.1_Missense_Mutation_p.E369K|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E365K NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 369 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TTTTAAAATTGAAGAGCCCCA 0.458 9 48 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212251789 212251789 + Missense_Mutation SNP T G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:212251789T>G uc002veg.1 - 27 3368 c.3270A>C c.(3268-3270)GAA>GAC p.E1090D ERBB4_uc002veh.1_Missense_Mutation_p.E1074D|ERBB4_uc010zji.1_Missense_Mutation_p.E1080D|ERBB4_uc010zjj.1_Missense_Mutation_p.E1064D NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1090 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CCACAGGAGCTTCTGGAATTG 0.502 TSP Lung(8;0.080) 9 112 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216274800 216274800 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr2:216274800G>T uc002vfa.2 - 14 2245 c.1979C>A c.(1978-1980)CCA>CAA p.P660Q FN1_uc002vfb.2_Missense_Mutation_p.P660Q|FN1_uc002vfc.2_Missense_Mutation_p.P660Q|FN1_uc002vfd.2_Missense_Mutation_p.P660Q|FN1_uc002vfe.2_Missense_Mutation_p.P660Q|FN1_uc002vff.2_Missense_Mutation_p.P660Q|FN1_uc002vfg.2_Missense_Mutation_p.P660Q|FN1_uc002vfh.2_Missense_Mutation_p.P660Q|FN1_uc002vfi.2_Missense_Mutation_p.P660Q|FN1_uc002vfj.2_Missense_Mutation_p.P660Q NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 660 Fibronectin type-III 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAAGTGGCCTGGTATGGTAGC 0.403 5 17 --- --- --- --- PASS THUMPD3 25917 broad.mit.edu 37 3 9406810 9406810 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr3:9406810C>A uc003bro.3 + 2 206 c.58C>A c.(58-60)CAG>AAG p.Q20K LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.Q20K NM_001114092 NP_001107564 Q9BV44 THUM3_HUMAN THUMP domain containing 3 20 methyltransferase activity|protein binding|RNA binding ovary(1) 1 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) TCATGAGAACCAGAAGTCTGT 0.453 5 78 --- --- --- --- PASS ZFYVE20 64145 broad.mit.edu 37 3 15116107 15116107 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr3:15116107C>T uc003bzm.1 - 14 2151 c.1537G>A c.(1537-1539)GAG>AAG p.E513K ZFYVE20_uc010hek.1_Missense_Mutation_p.E513K NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 513 UIM.|Potential.|Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 TCCTCCTCCTCAGCCTGCCTC 0.612 30 34 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62452069 62452069 + Missense_Mutation SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr3:62452069A>G uc003dll.2 - 25 3857 c.3497T>C c.(3496-3498)ATA>ACA p.I1166T CADPS_uc003dlj.1_Missense_Mutation_p.I121T|CADPS_uc003dlk.1_Missense_Mutation_p.I614T|CADPS_uc003dlm.2_Missense_Mutation_p.I1127T|CADPS_uc003dln.2_Missense_Mutation_p.I1087T NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1166 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TAGTTCGTCTATTTTTGAATG 0.358 12 19 --- --- --- --- PASS SUCLG2 8801 broad.mit.edu 37 3 67426195 67426195 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr3:67426195C>A uc003dna.3 - 11 1300 c.1272G>T c.(1270-1272)AAG>AAT p.K424N SUCLG2_uc010hob.2_Missense_Mutation_p.K171N NM_003848 NP_003839 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming beta subunit 424 succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|skin(1) 2 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) TGGCCACAGCCTTCTTGGCTG 0.488 12 15 --- --- --- --- PASS GXYLT2 727936 broad.mit.edu 37 3 72971411 72971411 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr3:72971411C>T uc003dpg.2 + 3 525 c.525C>T c.(523-525)ATC>ATT p.I175I NM_001080393 NP_001073862 A0PJZ3 GXLT2_HUMAN glycosyltransferase 8 domain containing 4 175 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 TCTACCCCATCACATTTTCTG 0.453 58 118 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89521662 89521662 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr3:89521662C>T uc003dqy.2 + 16 2964 c.2739C>T c.(2737-2739)TTC>TTT p.F913F EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 913 Cytoplasmic (Potential).|SAM. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TCACTACCTTCCGCACAACAG 0.468 TSP Lung(6;0.00050) 23 77 --- --- --- --- PASS BBX 56987 broad.mit.edu 37 3 107429440 107429440 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr3:107429440G>T uc010hpr.2 + 4 460 c.133G>T c.(133-135)GAG>TAG p.E45* BBX_uc003dwk.3_Nonsense_Mutation_p.E45*|BBX_uc003dwl.3_Nonsense_Mutation_p.E45*|BBX_uc010hps.1_Nonsense_Mutation_p.E66*|BBX_uc003dwm.3_Nonsense_Mutation_p.E45* NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 45 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) agaggaagaagaggaagacga 0.294 5 47 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 121973103 121973103 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr3:121973103G>A uc003eev.3 + 2 439 c.67G>A c.(67-69)GAC>AAC p.D23N CASR_uc003eew.3_Missense_Mutation_p.D23N NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 23 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTACGGGCCAGACCAGCGAGC 0.537 34 117 --- --- --- --- PASS TOPBP1 11073 broad.mit.edu 37 3 133362168 133362168 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr3:133362168G>A uc003eps.2 - 12 2029 c.1897C>T c.(1897-1899)CTC>TTC p.L633F NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 633 BRCT 4. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 GGTGTGAAGAGAGGATTCGAC 0.373 Other_conserved_DNA_damage_response_genes 5 66 --- --- --- --- PASS TMEM44 93109 broad.mit.edu 37 3 194309345 194309345 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr3:194309345G>T uc010hzn.2 - 11 1510 c.1341C>A c.(1339-1341)CTC>CTA p.L447L TMEM44_uc010hzm.2_3'UTR|TMEM44_uc003fuc.2_Silent_p.L132L|TMEM44_uc003fue.2_Silent_p.L400L|TMEM44_uc003fud.2_Silent_p.L411L|TMEM44_uc003fuf.2_3'UTR|TMEM44_uc011bsv.1_Silent_p.L410L|uc003fug.2_5'Flank NM_001011655 NP_001011655 Q2T9K0 TMM44_HUMAN transmembrane protein 44 isoform b 447 Cytoplasmic (Potential). integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) TGCTGCCTTCGAGGTTCACAT 0.507 6 124 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3105586 3105586 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:3105586C>A uc011bvq.1 + 5 655 c.510C>A c.(508-510)CTC>CTA p.L170L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 168 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GGTTACAGCTCGAGCTCTATA 0.294 4 92 --- --- --- --- PASS PSAPL1 768239 broad.mit.edu 37 4 7435209 7435209 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:7435209C>A uc011bwj.1 - 1 1492 c.1398G>T c.(1396-1398)GTG>GTT p.V466V SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN prosaposin-like protein 1 466 Saposin B-type 4. sphingolipid metabolic process extracellular region|lysosome 0 GGCAGGCCCCCACCTTCTTGC 0.632 3 3 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13604824 13604824 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:13604824C>G uc003gmz.1 - 10 3817 c.3700G>C c.(3700-3702)GAT>CAT p.D1234H BOD1L_uc010idr.1_Missense_Mutation_p.D571H NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1234 DNA binding ovary(5)|breast(1) 6 GTTTCAGAATCTATATTCACT 0.393 25 68 --- --- --- --- PASS LDB2 9079 broad.mit.edu 37 4 16900050 16900050 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:16900050C>G uc003goz.2 - 1 375 c.59G>C c.(58-60)AGG>ACG p.R20T LDB2_uc003gpa.2_Missense_Mutation_p.R20T|LDB2_uc003gpb.2_Missense_Mutation_p.R20T|LDB2_uc011bxh.1_Missense_Mutation_p.R20T|LDB2_uc010iee.2_Missense_Mutation_p.R20T NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 20 LIM domain binding|transcription cofactor activity 0 TGGTGTATGCCTCCTATAAAA 0.453 8 48 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47667122 47667122 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:47667122G>T uc003gxm.2 - 11 1609 c.1516C>A c.(1516-1518)CTC>ATC p.L506I CORIN_uc011bzf.1_Missense_Mutation_p.L367I|CORIN_uc011bzg.1_Missense_Mutation_p.L439I|CORIN_uc011bzh.1_Missense_Mutation_p.L469I|CORIN_uc011bzi.1_Missense_Mutation_p.L469I NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 506 Extracellular (Potential).|FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 AAGAACATGAGGTATTTATAA 0.423 6 100 --- --- --- --- PASS AFP 174 broad.mit.edu 37 4 74301996 74301996 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:74301996C>T uc003hgz.1 + 1 64 c.17C>T c.(16-18)TCA>TTA p.S6L AFP_uc003hha.1_Missense_Mutation_p.S6L|AFP_uc003hgy.1_Intron NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 6 transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGGGTGGAATCAATTTTTTTA 0.318 Alpha-Fetoprotein_Hereditary_Persistence_of 7 40 --- --- --- --- PASS AFP 174 broad.mit.edu 37 4 74302032 74302032 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:74302032C>G uc003hgz.1 + 1 100 c.53C>G c.(52-54)TCC>TGC p.S18C AFP_uc003hha.1_Missense_Mutation_p.S18C|AFP_uc003hgy.1_Intron NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 18 transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTTACTGAATCCAGAACACTG 0.284 Alpha-Fetoprotein_Hereditary_Persistence_of 6 33 --- --- --- --- PASS AREG 374 broad.mit.edu 37 4 75312365 75312365 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:75312365C>T uc011cbl.1 + 2 386 c.176C>T c.(175-177)TCA>TTA p.S59L NM_001657 NP_001648 P15514 AREG_HUMAN amphiregulin preproprotein 59 cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication cell surface|extracellular space|integral to membrane cytokine activity|growth factor activity 0 Lung(101;0.196) GAGATGTCTTCAGGGAGTGAG 0.483 47 33 --- --- --- --- PASS COPS4 51138 broad.mit.edu 37 4 83996472 83996472 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:83996472G>T uc003hoa.2 + 10 1249 c.1110G>T c.(1108-1110)TGG>TGT p.W370C COPS4_uc003hob.2_Nonsense_Mutation_p.G420*|COPS4_uc010ijw.2_Missense_Mutation_p.W402C|COPS4_uc010ijx.2_Missense_Mutation_p.G342V NM_016129 NP_057213 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 370 cullin deneddylation cytoplasm|signalosome protein binding kidney(1) 1 Hepatocellular(203;0.114) TGCCAACGTGGGATAAGCAGA 0.383 5 41 --- --- --- --- PASS PTPN13 5783 broad.mit.edu 37 4 87690984 87690984 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:87690984G>A uc003hpz.2 + 29 5032 c.4552G>A c.(4552-4554)GAA>AAA p.E1518K PTPN13_uc003hpy.2_Missense_Mutation_p.E1523K|PTPN13_uc003hqa.2_Missense_Mutation_p.E1499K|PTPN13_uc003hqb.2_Missense_Mutation_p.E1327K|PTPN13_uc003hqc.1_5'UTR NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1518 PDZ 3. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TTTTTCTCGAGAAGATAATCT 0.318 6 57 --- --- --- --- PASS AFF1 4299 broad.mit.edu 37 4 87967424 87967424 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:87967424G>T uc003hqj.3 + 2 531 c.124G>T c.(124-126)GGA>TGA p.G42* AFF1_uc011ccx.1_Intron|AFF1_uc003hqh.1_Nonsense_Mutation_p.G49*|AFF1_uc011ccy.1_Nonsense_Mutation_p.G49*|AFF1_uc011ccz.1_Nonsense_Mutation_p.G49*|AFF1_uc003hqk.3_Nonsense_Mutation_p.G42*|AFF1_uc011cda.1_Intron NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 42 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) TCCCCTTTTTGGAGAGCCCTA 0.408 7 130 --- --- --- --- PASS HERC6 55008 broad.mit.edu 37 4 89317227 89317227 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:89317227C>A uc011cdi.1 + 6 1003 c.820C>A c.(820-822)CCT>ACT p.P274T HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.P274T|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 274 RCC1 5. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CAGCCCCACTCCTGAGAAGAG 0.428 21 53 --- --- --- --- PASS TBCK 93627 broad.mit.edu 37 4 107229955 107229955 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:107229955G>T uc010ilv.2 - 2 528 c.163C>A c.(163-165)CAG>AAG p.Q55K TBCK_uc003hye.2_Missense_Mutation_p.Q55K|TBCK_uc003hyc.2_Missense_Mutation_p.Q55K|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.Q55K NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 55 Protein kinase. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 TCCACATACTGGCAGAGTCTG 0.363 5 65 --- --- --- --- PASS C4orf31 79625 broad.mit.edu 37 4 121966917 121966917 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:121966917C>T uc003idq.1 - 2 603 c.76G>A c.(76-78)GAT>AAT p.D26N NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 26 0 AGTTCCTCATCCCGGGTGGGT 0.478 13 18 --- --- --- --- PASS BBS7 55212 broad.mit.edu 37 4 122782823 122782823 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:122782823C>A uc003ied.2 - 4 351 c.177G>T c.(175-177)AAG>AAT p.K59N BBS7_uc003iee.1_Missense_Mutation_p.K59N|BBS7_uc010inq.1_Missense_Mutation_p.K15N NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 59 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 CGGGTAAAGTCTTGAACACTG 0.373 Bardet-Biedl_syndrome 7 14 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123246404 123246404 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:123246404G>A uc003ieh.2 + 63 10969 c.10924G>A c.(10924-10926)GAA>AAA p.E3642K KIAA1109_uc003iel.1_Missense_Mutation_p.E1577K|KIAA1109_uc003iem.2_Missense_Mutation_p.E12K NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3642 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGGAGAAACTGAAGAGCTCCC 0.338 6 38 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164393214 164393214 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:164393214C>G uc003iqp.3 - 1 1834 c.1673G>C c.(1672-1674)GGC>GCC p.G558A NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 558 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GATAACTCGGCCGCCTGTGGC 0.507 15 27 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164393215 164393215 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:164393215C>A uc003iqp.3 - 1 1833 c.1672G>T c.(1672-1674)GGC>TGC p.G558C NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 558 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATAACTCGGCCGCCTGTGGCT 0.507 15 31 --- --- --- --- PASS FBXO8 26269 broad.mit.edu 37 4 175160165 175160165 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:175160165C>A uc003itp.2 - 5 1602 c.752G>T c.(751-753)CGA>CTA p.R251L FBXO8_uc003itq.2_Missense_Mutation_p.R210L NM_012180 NP_036312 Q9NRD0 FBX8_HUMAN F-box only protein 8 251 SEC7. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(2) 2 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) GCCAAGTTCTCGCATTAAATC 0.388 4 20 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175899083 175899083 + Nonsense_Mutation SNP C T T rs141115697 TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:175899083C>T uc003iuc.2 + 5 3077 c.2407C>T c.(2407-2409)CAG>TAG p.Q803* ADAM29_uc003iud.2_Nonsense_Mutation_p.Q803*|ADAM29_uc010irr.2_Nonsense_Mutation_p.Q803*|ADAM29_uc011cki.1_Nonsense_Mutation_p.Q803* NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 803 8.|Cytoplasmic (Potential).|9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GACACCCTCCCAGAGGCAACC 0.567 16 49 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175899130 175899130 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:175899130G>A uc003iuc.2 + 5 3124 c.2454G>A c.(2452-2454)ACG>ACA p.T818T ADAM29_uc003iud.2_Silent_p.T818T|ADAM29_uc010irr.2_Silent_p.T818T|ADAM29_uc011cki.1_Silent_p.T818T NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 818 Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|9. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CTCCTGTGACGCCCTCCTAGA 0.587 11 44 --- --- --- --- PASS SORBS2 8470 broad.mit.edu 37 4 186545420 186545420 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr4:186545420C>A uc003iyl.2 - 13 2009 c.1151G>T c.(1150-1152)TGT>TTT p.C384F SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.C484F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.C288F|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.C498F|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 384 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GAGATCGTCACAGCTCCGGGA 0.537 5 12 --- --- --- --- PASS SLC45A2 51151 broad.mit.edu 37 5 33947345 33947345 + Missense_Mutation SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:33947345A>G uc003jid.2 - 6 1383 c.1291T>C c.(1291-1293)TTT>CTT p.F431L SLC45A2_uc003jie.2_Missense_Mutation_p.F431L NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 431 Helical; Name=10; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 ATTACACCAAACAGGCTGCAC 0.512 47 247 --- --- --- --- PASS SLC1A3 6507 broad.mit.edu 37 5 36677103 36677103 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:36677103G>A uc003jkj.3 + 6 1153 c.677G>A c.(676-678)CGA>CAA p.R226Q SLC1A3_uc011cox.1_Missense_Mutation_p.R119Q|SLC1A3_uc010iuy.2_Missense_Mutation_p.R226Q NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 226 Extracellular (Potential). D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) ACTCTTACCCGAATCACAGAG 0.488 10 87 --- --- --- --- PASS NIPBL 25836 broad.mit.edu 37 5 37017247 37017247 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:37017247G>A uc003jkl.3 + 24 5402 c.4903G>A c.(4903-4905)GAA>AAA p.E1635K NIPBL_uc003jkk.3_Missense_Mutation_p.E1635K NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1635 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGGATCTATAGAACGCATTTT 0.333 10 49 --- --- --- --- PASS OSMR 9180 broad.mit.edu 37 5 38881856 38881856 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:38881856G>T uc003jln.1 + 4 775 c.408G>T c.(406-408)GAG>GAT p.E136D OSMR_uc003jlm.1_Missense_Mutation_p.E136D NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 136 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) GTTCCTGGGAGGAAGTCAGTG 0.418 7 121 --- --- --- --- PASS CARD6 84674 broad.mit.edu 37 5 40843654 40843654 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:40843654G>T uc003jmg.2 + 2 759 c.684G>T c.(682-684)GTG>GTT p.V228V NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 228 Asp/Glu-rich. apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 AAGCCACTGTGGAAGAGGAGG 0.433 5 66 --- --- --- --- PASS FBXO4 26272 broad.mit.edu 37 5 41927172 41927172 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:41927172G>T uc003jmq.2 + 2 303 c.247G>T c.(247-249)GGA>TGA p.G83* FBXO4_uc003jmp.2_Nonsense_Mutation_p.G83*|FBXO4_uc003jmr.2_Nonsense_Mutation_p.G83* NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 83 F-box. positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) GTGTCAGTTGGGAAGTACAAA 0.373 7 134 --- --- --- --- PASS NNT 23530 broad.mit.edu 37 5 43659273 43659273 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:43659273G>T uc003joe.2 + 17 2710 c.2455G>T c.(2455-2457)GGT>TGT p.G819C NNT_uc003jof.2_Missense_Mutation_p.G819C NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 819 Helical; (Potential). tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) GTTGTTCTAGGGTGTGACTTT 0.413 7 160 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45461983 45461983 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:45461983G>T uc003jok.2 - 3 1001 c.976C>A c.(976-978)CCA>ACA p.P326T NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 326 Extracellular (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CAATCTGGTGGGAAGTCCTGC 0.408 42 27 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82850838 82850838 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:82850838G>C uc003kii.3 + 12 10072 c.9716G>C c.(9715-9717)TGG>TCG p.W3239S VCAN_uc003kij.3_Missense_Mutation_p.W2252S|VCAN_uc010jau.2_Missense_Mutation_p.W1485S|VCAN_uc003kik.3_Missense_Mutation_p.W498S|VCAN_uc003kil.3_Missense_Mutation_p.W1903S NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3239 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GACTTCCGTTGGACTGATGGC 0.413 6 18 --- --- --- --- PASS MEGF10 84466 broad.mit.edu 37 5 126734484 126734484 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:126734484G>T uc003kuh.3 + 8 1138 c.776G>T c.(775-777)TGG>TTG p.W259L MEGF10_uc010jdc.1_Missense_Mutation_p.W259L|MEGF10_uc010jdd.1_Missense_Mutation_p.W259L|MEGF10_uc003kui.3_Missense_Mutation_p.W259L NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 259 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 4. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CCTTCTGGCTGGATGGTAAGC 0.507 19 19 --- --- --- --- PASS MEGF10 84466 broad.mit.edu 37 5 126769147 126769147 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:126769147G>T uc003kuh.3 + 15 2148 c.1786G>T c.(1786-1788)GAT>TAT p.D596Y MEGF10_uc003kui.3_Missense_Mutation_p.D596Y NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 596 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 11. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ATGCTCCCCTGATGATGGCAT 0.562 14 24 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140181452 140181452 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:140181452G>A uc003lhf.2 + 1 670 c.670G>A c.(670-672)GGC>AGC p.G224S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G224S NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 224 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCTCACTGGCACGACTCA 0.403 15 31 --- --- --- --- PASS PCDHA12 56137 broad.mit.edu 37 5 140255775 140255775 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:140255775C>T uc003lic.2 + 1 845 c.718C>T c.(718-720)CCG>TCG p.P240S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.P240S NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 240 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACAATGGTCCGGCGTTTGA 0.428 18 51 --- --- --- --- PASS SH3RF2 153769 broad.mit.edu 37 5 145428766 145428766 + Missense_Mutation SNP G T T rs146377978 TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:145428766G>T uc003lnt.2 + 7 1518 c.1280G>T c.(1279-1281)CGA>CTA p.R427L SH3RF2_uc011dbl.1_Missense_Mutation_p.R427L|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.2_5'Flank NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 427 SH3 3. ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTCACCGGGCGAGTCGGCATC 0.612 OREG0016895 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 23 --- --- --- --- PASS JAKMIP2 9832 broad.mit.edu 37 5 147023671 147023671 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:147023671G>C uc003loq.1 - 7 1556 c.1174C>G c.(1174-1176)CTA>GTA p.L392V JAKMIP2_uc011dbx.1_Missense_Mutation_p.L350V|JAKMIP2_uc003lor.1_Missense_Mutation_p.L392V|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.L392V NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 392 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGTTTTAGAAACTCTGTT 0.393 13 24 --- --- --- --- PASS TRIM38 10475 broad.mit.edu 37 6 25983517 25983517 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:25983517C>T uc003nfm.2 + 8 1435 c.1000C>T c.(1000-1002)CCC>TCC p.P334S TRIM38_uc003nfn.2_Missense_Mutation_p.P316S|TRIM38_uc010jqd.2_5'UTR NM_006355 NP_006346 O00635 TRI38_HUMAN tripartite motif-containing 38 334 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding 0 TACTGCCTTCCCCTGTGTCTT 0.478 5 81 --- --- --- --- PASS HIST1H1C 3006 broad.mit.edu 37 6 26056651 26056651 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:26056651G>A uc003nfw.2 - 1 49 c.6C>T c.(4-6)TCC>TCT p.S2S NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 2 nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 GAGCAGTCTCGGACATGTTGA 0.612 9 10 --- --- --- --- PASS BTN2A2 10385 broad.mit.edu 37 6 26390287 26390287 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:26390287C>T uc003nhq.2 + 5 865 c.779C>T c.(778-780)ACC>ATC p.T260I BTN2A2_uc011dkf.1_Missense_Mutation_p.T144I|BTN2A2_uc011dkg.1_Missense_Mutation_p.T166I|BTN2A2_uc003nhr.2_Missense_Mutation_p.T144I|BTN2A2_uc011dkh.1_Missense_Mutation_p.T50I|BTN2A2_uc003nhs.2_Missense_Mutation_p.T260I|BTN2A2_uc003nht.2_Missense_Mutation_p.T260I|BTN2A2_uc011dki.1_Missense_Mutation_p.T9I NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 260 Extracellular (Potential). negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 GTCATCCTGACCGCATCTCCC 0.468 14 77 --- --- --- --- PASS BTN3A3 10384 broad.mit.edu 37 6 26448623 26448623 + Missense_Mutation SNP G T T rs140949337 TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:26448623G>T uc003nhz.2 + 6 1043 c.863G>T c.(862-864)CGA>CTA p.R288L BTN3A3_uc003nia.2_Missense_Mutation_p.R246L|BTN3A3_uc011dkn.1_Missense_Mutation_p.R246L NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 288 Cytoplasmic (Potential). integral to membrane 0 GAAAGAGAGCGAGAGATGAAA 0.493 5 58 --- --- --- --- PASS OR14J1 442191 broad.mit.edu 37 6 29274478 29274478 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:29274478G>C uc011dln.1 + 1 12 c.12G>C c.(10-12)TTG>TTC p.L4F NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGGTCAATTTGACTTCAATGA 0.398 32 74 --- --- --- --- PASS TUBB 203068 broad.mit.edu 37 6 30691668 30691668 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:30691668G>T uc003nrl.2 + 4 956 c.829G>T c.(829-831)GGA>TGA p.G277* TUBB_uc003nrk.1_Nonsense_Mutation_p.G277*|TUBB_uc011dmq.1_Nonsense_Mutation_p.G205* NM_178014 NP_821133 P07437 TBB5_HUMAN tubulin, beta 277 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding ovary(1) 1 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) CACCAGCCGTGGAAGCCAGCA 0.587 6 66 --- --- --- --- PASS SYNGAP1 8831 broad.mit.edu 37 6 33411229 33411229 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:33411229G>A uc011dri.1 + 15 3095 c.2900G>A c.(2899-2901)CGA>CAA p.R967Q SYNGAP1_uc010juy.2_Missense_Mutation_p.R938Q|SYNGAP1_uc010juz.2_Missense_Mutation_p.R679Q NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 967 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 caccaccaccGAGGTGGAGAG 0.562 18 71 --- --- --- --- PASS PACSIN1 29993 broad.mit.edu 37 6 34498116 34498116 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:34498116G>A uc003ojo.2 + 7 1091 c.885G>A c.(883-885)ATG>ATA p.M295I PACSIN1_uc003ojp.2_Missense_Mutation_p.M295I NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 295 endocytosis protein kinase activity 0 GCCCCGGCATGCCCATGAACT 0.617 12 13 --- --- --- --- PASS CPNE5 57699 broad.mit.edu 37 6 36714347 36714347 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:36714347G>A uc003omr.1 - 16 1093 c.1026C>T c.(1024-1026)CCC>CCT p.P342P CPNE5_uc003omp.1_Silent_p.P50P|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN copine V 342 VWFA. skin(1) 1 TGGACTGTGAGGGGTTCCCTG 0.592 7 20 --- --- --- --- PASS KCNK17 89822 broad.mit.edu 37 6 39271746 39271746 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:39271746G>T uc003ooo.2 - 4 815 c.675C>A c.(673-675)GGC>GGA p.G225G KCNK17_uc003oop.2_Silent_p.G225G NM_031460 NP_113648 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 225 integral to membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 TCACGTAGTCGCCGAAGCCCA 0.622 4 66 --- --- --- --- PASS PEX6 5190 broad.mit.edu 37 6 42937458 42937458 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:42937458C>A uc003otf.2 - 5 1408 c.1315G>T c.(1315-1317)GAG>TAG p.E439* PEX6_uc010jya.2_RNA NM_000287 NP_000278 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 439 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1) 1 all cancers(41;0.00235)|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;0.0562) ACCAAGGCCTCCAGGCCTGGA 0.547 5 61 --- --- --- --- PASS CUL7 9820 broad.mit.edu 37 6 43008367 43008367 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:43008367C>A uc003otq.2 - 21 4227 c.3924G>T c.(3922-3924)CTG>CTT p.L1308L CUL7_uc010jyg.2_Silent_p.L587L|CUL7_uc011dvb.1_Silent_p.L1392L|CUL7_uc010jyh.2_Silent_p.L301L|KLC4_uc003otr.1_5'Flank NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 1308 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TAGAGGTGCTCAGGCTCTGCA 0.612 5 75 --- --- --- --- PASS XPO5 57510 broad.mit.edu 37 6 43534990 43534990 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:43534990G>T uc003ovp.2 - 7 961 c.750C>A c.(748-750)CTC>CTA p.L250L NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 250 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GTATCTCCAGGAGTTTACAGT 0.453 12 49 --- --- --- --- PASS GPR111 222611 broad.mit.edu 37 6 47649797 47649797 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:47649797G>T uc010jzj.1 + 6 1503 c.1502G>T c.(1501-1503)TGG>TTG p.W501L GPR111_uc010jzk.1_Missense_Mutation_p.W433L|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 501 Helical; Name=2; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GCAGATGTGTGGTTCATTGTG 0.438 4 30 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69349136 69349136 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:69349136G>T uc003pev.3 + 3 1017 c.569G>T c.(568-570)GGG>GTG p.G190V BAI3_uc010kak.2_Missense_Mutation_p.G190V NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 190 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GAATCATGTGGGATCATGTAT 0.448 6 42 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69949100 69949100 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:69949100G>T uc003pev.3 + 20 3244 c.2796G>T c.(2794-2796)CAG>CAT p.Q932H BAI3_uc010kak.2_Missense_Mutation_p.Q932H|BAI3_uc011dxx.1_Missense_Mutation_p.Q138H|BAI3_uc003pex.1_Missense_Mutation_p.Q62H NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 932 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TGGTTGGACAGACTCAGACAC 0.333 5 62 --- --- --- --- PASS CD109 135228 broad.mit.edu 37 6 74440235 74440235 + Missense_Mutation SNP C T T rs137899447 by1000genomes TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:74440235C>T uc003php.2 + 4 870 c.445C>T c.(445-447)CGC>TGC p.R149C CD109_uc010kaz.2_Missense_Mutation_p.R149C|CD109_uc003phq.2_Missense_Mutation_p.R149C|CD109_uc010kba.2_Intron NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 149 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 AGTGAAGTTTCGCATTGTTAC 0.373 7 38 --- --- --- --- PASS TPBG 7162 broad.mit.edu 37 6 83075567 83075567 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:83075567G>A uc003pjn.3 + 3 1825 c.889G>A c.(889-891)GTC>ATC p.V297I TPBG_uc010kbj.2_Missense_Mutation_p.V297I|TPBG_uc003pjo.2_Missense_Mutation_p.V297I NM_006670 NP_006661 Q13641 TPBG_HUMAN trophoblast glycoprotein precursor 297 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane central_nervous_system(1) 1 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) CAATCCCTGGGTCTGCGACTG 0.547 15 46 --- --- --- --- PASS ME1 4199 broad.mit.edu 37 6 84108236 84108236 + Splice_Site SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:84108236C>A uc003pjy.2 - 3 319 c.213_splice c.e3-1 p.R71_splice ME1_uc011dzb.1_Splice_Site|ME1_uc011dzc.1_Intron NM_002395 NP_002386 P48163 MAOX_HUMAN cytosolic malic enzyme 1 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) GAGAAGATACCTGTAAAAATT 0.294 5 39 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87967475 87967475 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:87967475C>A uc003plm.3 + 8 4169 c.4128C>A c.(4126-4128)ATC>ATA p.I1376I NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1376 C2H2-type 8; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GGAAATTTATCTGTAGCAGGT 0.458 9 23 --- --- --- --- PASS GABRR1 2569 broad.mit.edu 37 6 89888538 89888538 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:89888538G>T uc003pna.2 - 10 1846 c.1391C>A c.(1390-1392)CCA>CAA p.P464Q GABRR1_uc011dzv.1_Missense_Mutation_p.P441Q NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 464 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GTATGCTGCTGGAAAGATGAT 0.398 5 50 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90428724 90428724 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:90428724C>A uc003pnn.1 - 42 6199 c.6083G>T c.(6082-6084)GGG>GTG p.G2028V NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2028 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AACACAGCTCCCACGGGAAAG 0.517 7 36 --- --- --- --- PASS SLC22A16 85413 broad.mit.edu 37 6 110763720 110763720 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:110763720C>T uc003puf.2 - 4 977 c.910G>A c.(910-912)GCA>ACA p.A304T SLC22A16_uc003pue.2_Missense_Mutation_p.A285T NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 304 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) ATTTTTTGTGCTTCTTCATAT 0.468 11 44 --- --- --- --- PASS NKAIN2 154215 broad.mit.edu 37 6 124604269 124604269 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:124604269G>T uc003pzo.2 + 2 450 c.173G>T c.(172-174)AGA>ATA p.R58I NKAIN2_uc003pzn.1_Missense_Mutation_p.R58I|NKAIN2_uc003pzp.2_Missense_Mutation_p.R57I|NKAIN2_uc010keq.2_Missense_Mutation_p.R58I|NKAIN2_uc010ker.2_5'UTR|NKAIN2_uc010kep.1_RNA NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 58 integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) ATTCAATATAGACCTCGTTAC 0.333 10 306 --- --- --- --- PASS NCOA7 135112 broad.mit.edu 37 6 126206305 126206305 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:126206305G>T uc010kes.2 + 10 1149 c.700G>T c.(700-702)GGT>TGT p.G234C NCOA7_uc003qae.3_Missense_Mutation_p.G234C|NCOA7_uc003qah.2_Missense_Mutation_p.G234C|NCOA7_uc003qai.2_Missense_Mutation_p.G234C|NCOA7_uc010ket.2_Missense_Mutation_p.G130C|NCOA7_uc003qag.2_Missense_Mutation_p.G234C NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 234 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) TCTCCTGCAGGGTGTGGTTGG 0.443 15 805 --- --- --- --- PASS TRMT11 60487 broad.mit.edu 37 6 126329537 126329537 + Splice_Site SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:126329537G>T uc003qam.2 + 8 801 c.680_splice c.e8-1 p.G227_splice TRMT11_uc003qan.2_Splice_Site|TRMT11_uc010kev.2_Splice_Site_p.G227_splice NM_001031712 NP_001026882 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 tRNA processing methyltransferase activity|nucleic acid binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0356) TGATTTTTCAGGTGGCCTGCT 0.423 12 576 --- --- --- --- PASS ARHGAP18 93663 broad.mit.edu 37 6 129929122 129929122 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:129929122C>G uc003qbr.2 - 9 1287 c.1198G>C c.(1198-1200)GCC>CCC p.A400P ARHGAP18_uc011ebw.1_Missense_Mutation_p.A400P NM_033515 NP_277050 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 400 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) AGCAGGCTGGCGGCATCATGC 0.453 10 49 --- --- --- --- PASS EPB41L2 2037 broad.mit.edu 37 6 131277400 131277400 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:131277400G>T uc003qch.2 - 2 408 c.226C>A c.(226-228)CGG>AGG p.R76R EPB41L2_uc003qcg.1_Silent_p.R76R|EPB41L2_uc011eby.1_Silent_p.R76R|EPB41L2_uc003qci.2_Silent_p.R76R|EPB41L2_uc010kfk.2_Silent_p.R76R|EPB41L2_uc010kfl.1_Silent_p.R76R NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 76 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) GGTATGAACCGAGAAATACCC 0.348 6 92 --- --- --- --- PASS SLC35D3 340146 broad.mit.edu 37 6 137245753 137245753 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:137245753C>A uc003qhe.2 + 2 1335 c.1170C>A c.(1168-1170)CTC>CTA p.L390L NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 390 carbohydrate transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) ATGCTTACCTCGAGGTATGGA 0.532 4 49 --- --- --- --- PASS CCDC28A 25901 broad.mit.edu 37 6 139094876 139094876 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:139094876C>A uc003qie.2 + 1 220 c.65C>A c.(64-66)GCA>GAA p.A22E uc003qid.1_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 22 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) CCGCTTGGGGCATGGAGGCTG 0.617 10 38 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152861157 152861157 + Splice_Site SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:152861157C>A uc010kiw.2 - 4 670 c.68_splice c.e4-1 p.D23_splice SYNE1_uc003qot.3_Splice_Site_p.D23_splice|SYNE1_uc003qou.3_Splice_Site_p.D23_splice|SYNE1_uc010kjb.1_Splice_Site_p.D23_splice|SYNE1_uc003qpa.1_Splice_Site_p.D23_splice NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 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) TCTTGCTCATCTAGAAGGAAA 0.343 HNSCC(10;0.0054) 17 46 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 161007644 161007644 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr6:161007644G>T uc003qtl.2 - 26 4086 c.3966C>A c.(3964-3966)TAC>TAA p.Y1322* NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3830 Kringle 34. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GATTCCTGCAGTAGTTCCTGG 0.483 7 49 --- --- --- --- PASS GPER 2852 broad.mit.edu 37 7 1131687 1131687 + Missense_Mutation SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:1131687T>A uc010ksd.1 + 2 712 c.323T>A c.(322-324)CTG>CAG p.L108Q C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.L108Q|GPER_uc003ska.1_Missense_Mutation_p.L108Q|GPER_uc003skb.2_Missense_Mutation_p.L108Q NM_001098201 NP_001091671 Q99527 GPER_HUMAN G protein-coupled receptor 30 108 Helical; Name=2; (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) GACCTCATCCTGGTGGCCGAC 0.577 9 76 --- --- --- --- PASS KIAA0415 9907 broad.mit.edu 37 7 4831000 4831000 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:4831000G>A uc003sne.2 + 17 2491 c.2408G>A c.(2407-2409)GGC>GAC p.G803D KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.G280D NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 803 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) AGGGAGGCCGGCCTCATGCCA 0.677 5 8 --- --- --- --- PASS AIMP2 7965 broad.mit.edu 37 7 6054848 6054848 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:6054848G>C uc003spo.2 + 2 320 c.207G>C c.(205-207)TTG>TTC p.L69F NM_006303 NP_006294 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting 69 apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding ovary(1) 1 TGTATGAGTTGAAAGCTGCAG 0.433 28 111 --- --- --- --- PASS TWIST1 7291 broad.mit.edu 37 7 19156538 19156538 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:19156538G>T uc003sum.2 - 1 758 c.407C>A c.(406-408)CCC>CAC p.P136H NM_000474 NP_000465 Q15672 TWST1_HUMAN twist 136 Helix-loop-helix motif. aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GGGCAGCGTGGGGATGATCTT 0.647 Saethre-Chotzen_syndrome 21 34 --- --- --- --- PASS NPC1L1 29881 broad.mit.edu 37 7 44556482 44556482 + Silent SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:44556482G>C uc003tlb.2 - 17 3476 c.3420C>G c.(3418-3420)CTC>CTG p.L1140L NPC1L1_uc003tlc.2_Silent_p.L1113L|NPC1L1_uc011kbw.1_Silent_p.L1067L|NPC1L1_uc003tla.2_Intron NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1140 Helical; Name=10; (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) TGAGCATGAAGAGCCCCTCAG 0.607 7 27 --- --- --- --- PASS CCM2 83605 broad.mit.edu 37 7 45112369 45112369 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:45112369G>T uc003tmo.2 + 7 936 c.790G>T c.(790-792)GAA>TAA p.E264* CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Nonsense_Mutation_p.E206*|CCM2_uc003tmq.2_Intron|CCM2_uc003tmr.2_Nonsense_Mutation_p.E173*|CCM2_uc011kcc.1_3'UTR|CCM2_uc003tms.2_Nonsense_Mutation_p.E285* NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 264 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 CTACGAGGTGGAAGCCAGCAC 0.522 Familial_Cerebral_Cavernous_Angioma 17 44 --- --- --- --- PASS KCTD7 154881 broad.mit.edu 37 7 66103967 66103967 + Silent SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:66103967C>G uc003tve.2 + 4 780 c.618C>G c.(616-618)CTC>CTG p.L206L RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Silent_p.L206L NM_153033 NP_694578 Q96MP8 KCTD7_HUMAN potassium channel tetramerisation domain 206 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|central_nervous_system(1) 3 AGTGTCCGCTCCTCAACTCCC 0.602 239 29 --- --- --- --- PASS SEMA3D 223117 broad.mit.edu 37 7 84666276 84666276 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:84666276C>A uc003uic.2 - 10 1160 c.1120G>T c.(1120-1122)GCT>TCT p.A374S SEMA3D_uc010led.2_Missense_Mutation_p.A374S|SEMA3D_uc003uib.2_Missense_Mutation_p.A13S NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 374 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 TCCTTATGAGCATATGGACCA 0.403 8 42 --- --- --- --- PASS CCDC132 55610 broad.mit.edu 37 7 92935226 92935226 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:92935226G>T uc003umo.2 + 18 1667 c.1539G>T c.(1537-1539)TTG>TTT p.L513F CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L483F|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L233F NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 513 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) CAGTGACCTTGTTTGAGCAGT 0.403 15 31 --- --- --- --- PASS DLX6 1750 broad.mit.edu 37 7 96639256 96639256 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:96639256C>T uc003uom.2 + 4 695 c.695C>T c.(694-696)TCG>TTG p.S232L DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron NM_005222 NP_005213 P56179 DLX6_HUMAN distal-less homeobox 6 142 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GTTTCTGCCTCGGCCAAGGGT 0.617 9 8 --- --- --- --- PASS TRIM56 81844 broad.mit.edu 37 7 100731192 100731192 + Missense_Mutation SNP A C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:100731192A>C uc003uxq.2 + 3 830 c.599A>C c.(598-600)CAC>CCC p.H200P TRIM56_uc003uxr.2_Missense_Mutation_p.H200P NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 200 B box-type 2. defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGGACCACCCCTGCCTG 0.692 4 3 --- --- --- --- PASS HBP1 26959 broad.mit.edu 37 7 106836436 106836436 + Missense_Mutation SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:106836436T>A uc003vdy.2 + 9 1411 c.1225T>A c.(1225-1227)TCT>ACT p.S409T HBP1_uc011klv.1_Missense_Mutation_p.S419T|HBP1_uc003vdz.2_Missense_Mutation_p.S409T|HBP1_uc003vea.2_Missense_Mutation_p.S409T|HBP1_uc003veb.1_Missense_Mutation_p.S409T NM_012257 NP_036389 O60381 HBP1_HUMAN HMG-box transcription factor 1 409 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding skin(1) 1 ATCACAGCTCTCTTCCAATTC 0.458 22 35 --- --- --- --- PASS IQUB 154865 broad.mit.edu 37 7 123109370 123109370 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:123109370G>A uc003vkn.2 - 9 2056 c.1479C>T c.(1477-1479)ATC>ATT p.I493I IQUB_uc003vko.2_Silent_p.I493I|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.I493I NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 493 ovary(3)|large_intestine(1) 4 CTCTGGCTCTGATGGTGAACT 0.353 22 33 --- --- --- --- PASS ATP6V0A4 50617 broad.mit.edu 37 7 138429990 138429990 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:138429990G>A uc003vuf.2 - 13 1594 c.1356C>T c.(1354-1356)ATC>ATT p.I452I ATP6V0A4_uc003vug.2_Silent_p.I452I|ATP6V0A4_uc003vuh.2_Silent_p.I452I NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 452 Helical; (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 CCATAAGTAGGATCAGATAGC 0.507 33 62 --- --- --- --- PASS OR6B1 135946 broad.mit.edu 37 7 143701805 143701805 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr7:143701805G>A uc003wdt.1 + 1 716 c.716G>A c.(715-717)TGT>TAT p.C239Y NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) TTCTCCACTTGTGCCTCCCAT 0.433 25 69 --- --- --- --- PASS PPP1R3B 79660 broad.mit.edu 37 8 8998583 8998583 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:8998583G>T uc003wsn.3 - 2 744 c.579C>A c.(577-579)TCC>TCA p.S193S PPP1R3B_uc003wso.3_Silent_p.S192S NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory (inhibitor) 193 CBM21. glycogen metabolic process ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) TGATGTCGAAGGAGAACGTGT 0.478 6 79 --- --- --- --- PASS ADAM7 8756 broad.mit.edu 37 8 24324415 24324415 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:24324415G>T uc003xeb.2 + 6 606 c.493G>T c.(493-495)GGT>TGT p.G165C ADAM7_uc003xea.1_Missense_Mutation_p.G165C NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 165 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GGTGCCGTATGGTGCCAATTA 0.368 5 82 --- --- --- --- PASS WRN 7486 broad.mit.edu 37 8 31015003 31015003 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:31015003G>C uc003xio.3 + 33 4727 c.3939G>C c.(3937-3939)CAG>CAC p.Q1313H WRN_uc010lvk.2_Missense_Mutation_p.Q780H NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1313 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CAGAGGTTCAGAAGATTATTG 0.502 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 15 18 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35608161 35608161 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:35608161G>T uc003xjr.1 + 13 2325 c.1997G>T c.(1996-1998)TGT>TTT p.C666F UNC5D_uc003xjs.1_Missense_Mutation_p.C661F|UNC5D_uc003xju.1_Missense_Mutation_p.C242F NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 666 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCCTTTGCGTGTCATGTGCTC 0.488 149 63 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35624481 35624481 + Missense_Mutation SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:35624481T>C uc003xjr.1 + 15 2703 c.2375T>C c.(2374-2376)CTG>CCG p.L792P UNC5D_uc003xjs.1_Missense_Mutation_p.L787P|UNC5D_uc003xju.1_Missense_Mutation_p.L368P NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 792 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GCCTTCTCCCTGGAGCGTTAT 0.582 14 122 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39495087 39495087 + Missense_Mutation SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:39495087T>C uc003xni.2 + 9 692 c.692T>C c.(691-693)CTG>CCG p.L231P ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.L207P NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 231 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ACTGTTATACTGTCTTCCTTG 0.313 8 33 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41804152 41804152 + Silent SNP A C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:41804152A>C uc010lxb.2 - 13 2497 c.1953T>G c.(1951-1953)CCT>CCG p.P651P MYST3_uc010lxc.2_Silent_p.P651P|MYST3_uc003xon.3_Silent_p.P651P|MYST3_uc010lxd.2_Silent_p.P651P NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 651 Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.|Catalytic.|Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) GCTGGTATTGAGGAAGAATCA 0.378 7 38 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52387662 52387662 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:52387662C>T uc003xqu.3 - 7 665 c.564G>A c.(562-564)CTG>CTA p.L188L NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 188 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCAGCCACATCAGATCACAGT 0.517 5 34 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69002947 69002947 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:69002947G>T uc003xxv.1 + 20 2274 c.2247G>T c.(2245-2247)ACG>ACT p.T749T PREX2_uc003xxu.1_Silent_p.T749T|PREX2_uc011lez.1_Silent_p.T684T NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 749 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GGCGGCCAACGAAGGTAAGTG 0.473 10 32 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69002948 69002948 + Nonsense_Mutation SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:69002948A>T uc003xxv.1 + 20 2275 c.2248A>T c.(2248-2250)AAG>TAG p.K750* PREX2_uc003xxu.1_Nonsense_Mutation_p.K750*|PREX2_uc011lez.1_Nonsense_Mutation_p.K685* NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 750 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GCGGCCAACGAAGGTAAGTGG 0.468 9 31 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87751931 87751931 + Missense_Mutation SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:87751931T>A uc003ydx.2 - 2 209 c.163A>T c.(163-165)ACC>TCC p.T55S NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 55 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding p.T55P(1) ovary(2)|pancreas(1) 3 GTTGACTTGGTTTTGAGAGAT 0.313 13 35 --- --- --- --- PASS CNBD1 168975 broad.mit.edu 37 8 87917412 87917412 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:87917412G>T uc003ydy.2 + 3 310 c.262G>T c.(262-264)GAG>TAG p.E88* NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 88 ovary(3) 3 TTTCAAACAGGAGGAACAAAG 0.368 8 17 --- --- --- --- PASS RBM12B 389677 broad.mit.edu 37 8 94747128 94747128 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:94747128C>A uc003yfz.2 - 3 1704 c.1511G>T c.(1510-1512)CGA>CTA p.R504L NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 504 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) ATGGTCACCTCGCTCACGTGA 0.403 6 93 --- --- --- --- PASS TRHR 7201 broad.mit.edu 37 8 110100339 110100339 + Missense_Mutation SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:110100339T>C uc003ymz.3 + 1 614 c.598T>C c.(598-600)TAT>CAT p.Y200H NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 200 Helical; Name=5; (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TGGTGTCTTTTATGTTGTGCC 0.388 11 39 --- --- --- --- PASS SYBU 55638 broad.mit.edu 37 8 110588198 110588198 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:110588198C>A uc003ynj.3 - 7 1092 c.929G>T c.(928-930)CGA>CTA p.R310L SYBU_uc003yni.3_Missense_Mutation_p.R307L|SYBU_uc003ynk.3_Missense_Mutation_p.R191L|SYBU_uc010mco.2_Missense_Mutation_p.R309L|SYBU_uc003ynl.3_Missense_Mutation_p.R309L|SYBU_uc010mcp.2_Missense_Mutation_p.R310L|SYBU_uc010mcq.2_Missense_Mutation_p.R310L|SYBU_uc003yno.3_Missense_Mutation_p.R191L|SYBU_uc010mcr.2_Missense_Mutation_p.R310L|SYBU_uc003ynm.3_Missense_Mutation_p.R309L|SYBU_uc003ynn.3_Missense_Mutation_p.R309L|SYBU_uc010mcs.2_Missense_Mutation_p.R191L|SYBU_uc010mct.2_Missense_Mutation_p.R310L|SYBU_uc010mcu.2_Missense_Mutation_p.R309L|SYBU_uc003ynp.3_Missense_Mutation_p.R242L|SYBU_uc010mcv.2_Missense_Mutation_p.R310L|SYBU_uc003ynh.3_Missense_Mutation_p.R104L|SYBU_uc011lhw.1_Missense_Mutation_p.R180L NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 310 Sufficient for interaction with STX1A.|Potential.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 CCAGTCCTCTCGCATGCGGGC 0.443 4 47 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113303805 113303805 + Missense_Mutation SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:113303805A>T uc003ynu.2 - 56 9067 c.8908T>A c.(8908-8910)TTT>ATT p.F2970I CSMD3_uc003yns.2_Missense_Mutation_p.F2172I|CSMD3_uc003ynt.2_Missense_Mutation_p.F2930I|CSMD3_uc011lhx.1_Missense_Mutation_p.F2801I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2970 Extracellular (Potential).|Sushi 20. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GAAGATCCAAATAAAAAATAT 0.333 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 49 --- --- --- --- PASS PHF20L1 51105 broad.mit.edu 37 8 133816985 133816985 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:133816985G>T uc003ytt.2 + 8 1172 c.847G>T c.(847-849)GGT>TGT p.G283C PHF20L1_uc003ytr.2_Missense_Mutation_p.G257C|PHF20L1_uc010mdv.2_Missense_Mutation_p.G257C|PHF20L1_uc003yts.2_Missense_Mutation_p.G283C|PHF20L1_uc011lja.1_Missense_Mutation_p.G257C|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytv.2_Missense_Mutation_p.G122C NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 283 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CAAGATTACTGGTAAACTACA 0.338 8 108 --- --- --- --- PASS PTK2 5747 broad.mit.edu 37 8 141678480 141678480 + Missense_Mutation SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:141678480T>C uc003yvu.2 - 30 2983 c.2753A>G c.(2752-2754)GAC>GGC p.D918G PTK2_uc011ljp.1_Missense_Mutation_p.D226G|PTK2_uc003yvo.2_Missense_Mutation_p.D546G|PTK2_uc011ljq.1_Missense_Mutation_p.D616G|PTK2_uc003yvp.2_Missense_Mutation_p.D586G|PTK2_uc003yvq.2_Missense_Mutation_p.D423G|PTK2_uc003yvr.2_Missense_Mutation_p.D861G|PTK2_uc003yvs.2_Missense_Mutation_p.D872G|PTK2_uc003yvt.2_Missense_Mutation_p.D940G|PTK2_uc003yvv.2_Missense_Mutation_p.D821G|PTK2_uc011ljr.1_Missense_Mutation_p.D931G NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 918 Interaction with TGFB1I1.|Interaction with RGNEF (By similarity). 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) ATTCGACCGGTCCAGGTTGGC 0.542 OREG0019022 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 43 --- --- --- --- PASS NFKBIL2 4796 broad.mit.edu 37 8 145667759 145667759 + Silent SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr8:145667759G>C uc011llg.1 - 6 630 c.615C>G c.(613-615)CGC>CGG p.R205R NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 205 TPR 5. 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) CCAGGTTGTAGCGGGCGCGGA 0.647 5 21 --- --- --- --- PASS C9orf123 90871 broad.mit.edu 37 9 7799633 7799633 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:7799633C>A uc003zki.2 - 1 146 c.102G>T c.(100-102)GCG>GCT p.A34A C9orf123_uc003zkj.2_Silent_p.A34A Q96GE9 CI123_HUMAN Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867. 34 integral to membrane 0 all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356) GBM - Glioblastoma multiforme(50;0.0561) GGGAGGTCGGCGCTCCGGGTG 0.672 6 11 --- --- --- --- PASS PLIN2 123 broad.mit.edu 37 9 19120960 19120960 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:19120960G>T uc003zno.2 - 5 692 c.513C>A c.(511-513)CTC>CTA p.L171L PLIN2_uc011lna.1_Silent_p.L143L|PLIN2_uc011lnb.1_Intron NM_001122 NP_001113 Q99541 PLIN2_HUMAN adipose differentiation-related protein 171 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle ovary(2) 2 CACTGCTCACGAGCTGCATCA 0.498 4 74 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971065 21971065 + Missense_Mutation SNP T G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:21971065T>G uc003zpk.2 - 2 505 c.293A>C c.(292-294)CAC>CCC p.H98P MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A153A NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 98 ANK 3. H -> P (in CMM2).|H -> Q (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.H98R(2)|p.H83fs*2(2)|p.H98Y(1)|p.H98H(1)|p.H98P(1)|p.L97fs*21(1)|p.T93_D105del(1)|p.A68fs*3(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCGGCCCGGTGCAGCACCAC 0.746 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 3 --- --- --- --- PASS C9orf128 392307 broad.mit.edu 37 9 35825821 35825821 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:35825821C>A uc010mlc.2 - 2 623 c.338G>T c.(337-339)CGA>CTA p.R113L C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Missense_Mutation_p.R113L NM_001012446 NP_001012448 A6H8Z2 CI128_HUMAN hypothetical protein LOC392307 113 0 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) GACATAGTCTCGTGATTGGGG 0.493 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 281 --- --- --- --- PASS RECK 8434 broad.mit.edu 37 9 36087870 36087870 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:36087870C>A uc003zyv.2 + 9 903 c.817C>A c.(817-819)CCT>ACT p.P273T RECK_uc003zyw.2_Missense_Mutation_p.P145T|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 273 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) ATCTGTTCACCCTGGAGTCAC 0.453 6 90 --- --- --- --- PASS RECK 8434 broad.mit.edu 37 9 36118794 36118794 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:36118794G>T uc003zyv.2 + 18 2380 c.2294G>T c.(2293-2295)GGT>GTT p.G765V RECK_uc003zyw.2_Missense_Mutation_p.G637V|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 765 Kazal-like 3. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GGGCACAATGGTGAGACCTAC 0.542 35 34 --- --- --- --- PASS TDRD7 23424 broad.mit.edu 37 9 100232913 100232913 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:100232913G>A uc004axj.2 + 9 1928 c.1703G>A c.(1702-1704)TGT>TAT p.C568Y TDRD7_uc011lux.1_Missense_Mutation_p.C494Y|TDRD7_uc010msp.1_Intron|TDRD7_uc011luy.1_5'UTR NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 568 Tudor 1. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) CCGAAGTTTTGTTCACTCTCA 0.318 20 31 --- --- --- --- PASS ZNF618 114991 broad.mit.edu 37 9 116812065 116812065 + Missense_Mutation SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:116812065A>T uc004bid.2 + 15 2582 c.2483A>T c.(2482-2484)AAG>ATG p.K828M ZNF618_uc004bic.2_Missense_Mutation_p.K735M|ZNF618_uc011lxi.1_Missense_Mutation_p.K795M|ZNF618_uc011lxj.1_Missense_Mutation_p.K796M|ZNF618_uc010mvb.2_Missense_Mutation_p.K418M NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 828 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATCATCGGCAAGGTCTGTGAG 0.642 11 49 --- --- --- --- PASS TRIM32 22954 broad.mit.edu 37 9 119461418 119461418 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:119461418G>T uc004bjx.2 + 2 1555 c.1397G>T c.(1396-1398)AGG>ATG p.R466M ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R466M NM_001099679 NP_001093149 Q13049 TRI32_HUMAN tripartite motif-containing 32 466 NHL 3. fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|kidney(1) 3 GCCTGTCACAGGAGCCAGCTG 0.512 Bardet-Biedl_syndrome 6 75 --- --- --- --- PASS OR1L6 392390 broad.mit.edu 37 9 125512589 125512589 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:125512589C>A uc011lzc.1 + 1 571 c.571C>A c.(571-573)CTA>ATA p.L191I NM_001004453 NP_001004453 Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, 191 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATCTCCCACCTACATTCCCT 0.507 6 87 --- --- --- --- PASS GARNL3 84253 broad.mit.edu 37 9 130098406 130098406 + Splice_Site SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:130098406G>T uc011mae.1 + 11 1275 c.874_splice c.e11-1 p.V292_splice GARNL3_uc011mad.1_Splice_Site_p.V270_splice|GARNL3_uc004bqt.1_Splice_Site_p.V73_splice NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GCTCACTACAGGTGGAAAGGA 0.423 5 68 --- --- --- --- PASS RAPGEF1 2889 broad.mit.edu 37 9 134471736 134471736 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:134471736C>G uc004cbc.2 - 14 2210 c.2080G>C c.(2080-2082)GGA>CGA p.G694R RAPGEF1_uc004cbb.2_Missense_Mutation_p.G712R|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.G869R|RAPGEF1_uc004cbd.2_Missense_Mutation_p.G699R NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 694 N-terminal Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CCAGATCCTCCGCGGACGTCC 0.552 30 19 --- --- --- --- PASS RXRA 6256 broad.mit.edu 37 9 137293518 137293518 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:137293518G>T uc004cfb.2 + 2 231 c.69G>T c.(67-69)ACG>ACT p.T23T RXRA_uc004cfa.1_Missense_Mutation_p.G74W NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 23 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CCTCCCCGACGGGGCGAGGCT 0.657 28 24 --- --- --- --- PASS EHMT1 79813 broad.mit.edu 37 9 140637893 140637893 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr9:140637893G>T uc011mfc.1 + 5 931 c.894G>T c.(892-894)CTG>CTT p.L298L EHMT1_uc004coa.2_Silent_p.L298L|EHMT1_uc004cob.1_Silent_p.L267L|EHMT1_uc010ncn.1_RNA NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 298 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CCTATAGCCTGGTTCCTAAGA 0.318 5 48 --- --- --- --- PASS FBXO18 84893 broad.mit.edu 37 10 5959446 5959446 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:5959446G>A uc001iis.2 + 11 1947 c.1852G>A c.(1852-1854)GAG>AAG p.E618K FBXO18_uc001iir.2_Missense_Mutation_p.E544K|FBXO18_uc009xig.2_Missense_Mutation_p.E544K|FBXO18_uc001iit.2_Missense_Mutation_p.E669K NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 618 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 GTGCACAGAAGAGGCGCACCA 0.562 7 15 --- --- --- --- PASS PFKFB3 5209 broad.mit.edu 37 10 6263484 6263484 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:6263484C>T uc001ije.2 + 9 1356 c.972C>T c.(970-972)ATC>ATT p.I324I PFKFB3_uc001ijd.2_Silent_p.I304I|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.I338I|PFKFB3_uc001ijf.2_Silent_p.I324I|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank NM_004566 NP_004557 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2, 324 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(2)|central_nervous_system(1) 3 TCAATGAGATCGACGCGGTGA 0.662 6 11 --- --- --- --- PASS ITIH5 80760 broad.mit.edu 37 10 7679270 7679270 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:7679270G>T uc001ijq.2 - 5 652 c.573C>A c.(571-573)ATC>ATA p.I191I ITIH5_uc001ijr.1_Silent_p.I191I NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 191 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CGCTCTCCAGGATATTCACGT 0.652 14 34 --- --- --- --- PASS OLAH 55301 broad.mit.edu 37 10 15107717 15107717 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:15107717C>T uc001inu.2 + 6 791 c.537C>T c.(535-537)ATC>ATT p.I179I ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Silent_p.I232I NM_001039702 NP_001034791 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase isoform 2 179 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity 0 GTAGTCCCATCATAAGGGCAG 0.353 6 49 --- --- --- --- PASS STAM 8027 broad.mit.edu 37 10 17730044 17730044 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:17730044G>T uc001ipj.1 + 5 532 c.316G>T c.(316-318)GAA>TAA p.E106* STAM_uc010qcf.1_5'UTR NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 106 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 TAAAGTATGTGAAAAATTAAA 0.303 5 84 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18284589 18284589 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:18284589G>T uc001ipo.2 + 10 1811 c.1538G>T c.(1537-1539)AGC>ATC p.S513I SLC39A12_uc001ipn.2_Missense_Mutation_p.S476I|SLC39A12_uc001ipp.2_Missense_Mutation_p.S512I|SLC39A12_uc010qck.1_Missense_Mutation_p.S379I NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 513 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 AAATAGAAAAGCCCAGAAGAT 0.353 7 63 --- --- --- --- PASS NEBL 10529 broad.mit.edu 37 10 21108409 21108409 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:21108409C>A uc001iqi.2 - 20 2396 c.1999G>T c.(1999-2001)GTA>TTA p.V667L NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 667 Nebulin 19. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 GTCATGCTTACCGGAGTGGCC 0.438 22 115 --- --- --- --- PASS SLC25A16 8034 broad.mit.edu 37 10 70253288 70253288 + Missense_Mutation SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:70253288A>T uc001joi.2 - 5 913 c.461T>A c.(460-462)GTT>GAT p.V154D SLC25A16_uc010qix.1_Missense_Mutation_p.V20D|SLC25A16_uc010qiy.1_Missense_Mutation_p.V56D|SLC25A16_uc001joj.2_Missense_Mutation_p.V56D NM_152707 NP_689920 P16260 GDC_HUMAN solute carrier family 25, member 16 154 Helical; Name=3; (Potential).|Solcar 2. coenzyme biosynthetic process|pantothenate metabolic process integral to membrane|mitochondrial inner membrane binding|solute:solute antiporter activity 0 GCGGACCCTAACCATGTCAAG 0.353 15 53 --- --- --- --- PASS C10orf54 64115 broad.mit.edu 37 10 73521605 73521605 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:73521605C>T uc001jsd.2 - 2 402 c.261G>A c.(259-261)CGG>CGA p.R87R CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_5'UTR|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Silent_p.R87R NM_022153 NP_071436 Q9H7M9 GI24_HUMAN platelet receptor Gi24 precursor 87 Ig-like.|Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1)|central_nervous_system(1) 3 TGCGGATGGGCCGGCGCTCTG 0.652 10 38 --- --- --- --- PASS LCOR 84458 broad.mit.edu 37 10 98715105 98715105 + Missense_Mutation SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:98715105A>G uc001kms.1 + 8 1249 c.728A>G c.(727-729)AAG>AGG p.K243R LCOR_uc001kmr.2_Missense_Mutation_p.K243R|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.K243R|LCOR_uc001kmu.1_Missense_Mutation_p.K243R NM_032440 NP_115816 Q96JN0 LCOR_HUMAN ligand dependent nuclear receptor corepressor 243 nucleus DNA binding ovary(3) 3 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) GATGGAAAAAAGGATGTGAGC 0.433 19 33 --- --- --- --- PASS SCD 6319 broad.mit.edu 37 10 102120670 102120670 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:102120670G>C uc001kqy.2 + 6 1550 c.1060G>C c.(1060-1062)GGA>CGA p.G354R NM_005063 NP_005054 O00767 ACOD_HUMAN stearoyl-CoA desaturase 1 354 Cytoplasmic (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity 0 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) AACCGGAGATGGAAACTACAA 0.473 12 27 --- --- --- --- PASS SCD 6319 broad.mit.edu 37 10 102120671 102120671 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:102120671G>T uc001kqy.2 + 6 1551 c.1061G>T c.(1060-1062)GGA>GTA p.G354V NM_005063 NP_005054 O00767 ACOD_HUMAN stearoyl-CoA desaturase 1 354 Cytoplasmic (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity 0 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) ACCGGAGATGGAAACTACAAG 0.473 12 27 --- --- --- --- PASS COL17A1 1308 broad.mit.edu 37 10 105836091 105836091 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:105836091C>A uc001kxr.2 - 5 468 c.299G>T c.(298-300)AGG>ATG p.R100M COL17A1_uc010qqv.1_Missense_Mutation_p.R100M|COL17A1_uc009xxp.1_Missense_Mutation_p.R100M NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 100 Cytoplasmic (Potential).|Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GTGAGTTTTCCTTTCAAAGGT 0.522 5 72 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118321053 118321053 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:118321053G>A uc001lcm.2 + 12 1282 c.1239G>A c.(1237-1239)CAG>CAA p.Q413Q NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 413 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GGGACTTGCAGATGGTTAAAT 0.373 17 33 --- --- --- --- PASS CARS 833 broad.mit.edu 37 11 3050251 3050251 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:3050251G>T uc001lxh.2 - 8 831 c.757C>A c.(757-759)CAG>AAG p.Q253K CARS_uc001lxe.2_Missense_Mutation_p.Q243K|CARS_uc001lxf.2_Missense_Mutation_p.Q336K|CARS_uc001lxg.2_Missense_Mutation_p.Q253K|CARS_uc010qxo.1_Missense_Mutation_p.Q336K|CARS_uc010qxp.1_Missense_Mutation_p.Q266K|uc001lxi.1_5'Flank NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 253 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) ACAATCTTCTGGACAAAGTTC 0.527 T ALK ALCL 6 89 --- --- --- --- PASS STIM1 6786 broad.mit.edu 37 11 4104506 4104506 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:4104506G>T uc001lyv.2 + 10 1820 c.1252G>T c.(1252-1254)GAG>TAG p.E418* STIM1_uc009yef.2_Nonsense_Mutation_p.E418*|STIM1_uc009yeg.2_Nonsense_Mutation_p.E245* NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 418 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) AGCACTGAGCGAGGTGACAGC 0.542 4 52 --- --- --- --- PASS NLRP10 338322 broad.mit.edu 37 11 7981752 7981752 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:7981752G>A uc001mfv.1 - 2 1424 c.1407C>T c.(1405-1407)TTC>TTT p.F469F NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 469 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAAAGTCCTGGAAGCTGATGT 0.512 13 72 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26619981 26619981 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:26619981G>T uc001mqt.3 + 15 1662 c.1517G>T c.(1516-1518)TGG>TTG p.W506L ANO3_uc010rdr.1_Missense_Mutation_p.W490L|ANO3_uc010rds.1_Missense_Mutation_p.W345L|ANO3_uc010rdt.1_Missense_Mutation_p.W360L NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 506 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTTATCGAATGGGAAGAAGAG 0.403 24 61 --- --- --- --- PASS CD44 960 broad.mit.edu 37 11 35250813 35250813 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:35250813C>A uc001mvu.2 + 18 2596 c.2162C>A c.(2161-2163)CCA>CAA p.P721Q CD44_uc001mvv.2_Missense_Mutation_p.P678Q|CD44_uc001mvw.2_Missense_Mutation_p.P472Q|CD44_uc001mvx.2_Missense_Mutation_p.P340Q|CD44_uc001mvy.2_Silent_p.S133S|CD44_uc001mwc.3_Missense_Mutation_p.P408Q|CD44_uc010rer.1_Missense_Mutation_p.P319Q|CD44_uc009ykh.2_RNA NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 721 Cytoplasmic (Potential). cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) TCAGAAACTCCAGACCAGTTT 0.478 7 168 --- --- --- --- PASS SYT13 57586 broad.mit.edu 37 11 45274068 45274068 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:45274068G>A uc001myq.2 - 4 876 c.750C>T c.(748-750)TCC>TCT p.S250S SYT13_uc009yku.1_Silent_p.S106S NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 250 Cytoplasmic (Potential).|C2 1. transport vesicle ovary(1) 1 CGCTGTGACGGGAGAAGCGGT 0.687 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 33 --- --- --- --- PASS C11orf49 79096 broad.mit.edu 37 11 47073976 47073976 + Nonsense_Mutation SNP C T T rs14051 TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:47073976C>T uc001ndp.2 + 3 293 c.187C>T c.(187-189)CGA>TGA p.R63* C11orf49_uc001nds.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndq.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndr.2_Nonsense_Mutation_p.R63*|C11orf49_uc010rgx.1_5'UTR|C11orf49_uc010rgy.1_Nonsense_Mutation_p.R54*|C11orf49_uc010rgz.1_Intron NM_024113 NP_077018 Q9H6J7 CK049_HUMAN hypothetical protein LOC79096 isoform 3 63 0 CATTCTCTTTCGAGAATTCAG 0.453 28 60 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55136361 55136361 + Silent SNP A C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:55136361A>C uc010rif.1 + 1 1002 c.1002A>C c.(1000-1002)GTA>GTC p.V334V NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 334 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTAAAAAAGTAAGCTTAGCTG 0.368 15 59 --- --- --- --- PASS OR5D14 219436 broad.mit.edu 37 11 55563596 55563596 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:55563596G>C uc010rim.1 + 1 565 c.565G>C c.(565-567)GTG>CTG p.V189L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TCTCATCTCTGTGTCTGGCTC 0.448 19 84 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587562 55587562 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:55587562G>A uc010rin.1 + 1 457 c.457G>A c.(457-459)GGA>AGA p.G153R NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CTATGCCTGGGGAGTCTCATG 0.478 12 84 --- --- --- --- PASS UBE2L6 9246 broad.mit.edu 37 11 57319960 57319960 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:57319960C>A uc001nkn.1 - 4 429 c.333G>T c.(331-333)CTG>CTT p.L111L UBE2L6_uc001nko.1_Silent_p.L45L NM_004223 NP_004214 O14933 UB2L6_HUMAN ubiquitin-conjugating enzyme E2L 6 isoform 1 111 negative regulation of type I interferon production cytosol protein binding|ubiquitin-protein ligase activity ovary(1) 1 GTCTATTCACCAGCACATTGA 0.572 5 92 --- --- --- --- PASS OR4D9 390199 broad.mit.edu 37 11 59282973 59282973 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:59282973G>T uc010rkv.1 + 1 588 c.588G>T c.(586-588)GAG>GAT p.E196D NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 196 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCACTCTGGAGCTCCTGATGA 0.468 15 72 --- --- --- --- PASS EIF1AD 84285 broad.mit.edu 37 11 65766854 65766854 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:65766854G>T uc001ogm.1 - 5 605 c.320C>A c.(319-321)TCT>TAT p.S107Y EIF1AD_uc001ogn.1_Missense_Mutation_p.S107Y|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank NM_032325 NP_115701 Q8N9N8 EIF1A_HUMAN eukaryotic translation initiation factor 1A 107 nucleus translation initiation factor activity 0 AGCCACTTCAGAGAAGGCCTC 0.498 9 290 --- --- --- --- PASS C11orf80 79703 broad.mit.edu 37 11 66571479 66571479 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:66571479G>T uc001ojf.2 + 9 863 c.856G>T c.(856-858)GGT>TGT p.G286C C11orf80_uc001ojg.2_Missense_Mutation_p.G52C|C11orf80_uc001ojh.2_Missense_Mutation_p.G53C|C11orf80_uc001oji.2_Missense_Mutation_p.G53C|C11orf80_uc010rpk.1_Missense_Mutation_p.G121C NM_024650 NP_078926 Q8N6T0 CK080_HUMAN hypothetical protein LOC79703 131 0 ACCAAATTTTGGTACAATTGA 0.368 6 171 --- --- --- --- PASS TPCN2 219931 broad.mit.edu 37 11 68840410 68840410 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:68840410C>T uc001oos.2 + 13 1287 c.1171C>T c.(1171-1173)CTC>TTC p.L391F TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Missense_Mutation_p.L306F|TPCN2_uc010rqg.1_Missense_Mutation_p.L391F|TPCN2_uc001oot.2_RNA NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 391 Cytoplasmic (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAGTGTTCTGCTCTCAGCTGA 0.607 9 27 --- --- --- --- PASS CHRDL2 25884 broad.mit.edu 37 11 74413877 74413877 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:74413877G>T uc001ovi.2 - 9 1335 c.1082C>A c.(1081-1083)TCG>TAG p.S361* CHRDL2_uc001ovg.2_Nonsense_Mutation_p.S245*|CHRDL2_uc001ovh.2_Nonsense_Mutation_p.S361*|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Nonsense_Mutation_p.S296* Q6WN34 CRDL2_HUMAN RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1; Short=BNF-1; Flags: Precursor; 361 cartilage development|cell differentiation|ossification extracellular region|mitochondrion 0 Hepatocellular(1;0.098) CACCAAGTCCGAGGCCTCGTG 0.632 OREG0021223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 60 --- --- --- --- PASS USP35 57558 broad.mit.edu 37 11 77921353 77921353 + Missense_Mutation SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:77921353A>T uc009yva.1 + 10 2698 c.2452A>T c.(2452-2454)ATG>TTG p.M818L USP35_uc001oze.2_Missense_Mutation_p.M574L|USP35_uc001ozc.2_Missense_Mutation_p.M386L|USP35_uc010rsp.1_Missense_Mutation_p.M250L|USP35_uc001ozd.2_Missense_Mutation_p.M429L|USP35_uc001ozf.2_Missense_Mutation_p.M549L NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 818 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CCTGCGCACCATGCGGCGCCG 0.647 12 41 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92531931 92531931 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:92531931C>G uc001pdj.3 + 9 5769 c.5752C>G c.(5752-5754)CTG>GTG p.L1918V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1918 Cadherin 17.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCCCCTGAACTGACATACAG 0.423 TCGA Ovarian(4;0.039) 17 39 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92533017 92533017 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:92533017G>T uc001pdj.3 + 9 6855 c.6838G>T c.(6838-6840)GTA>TTA p.V2280L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2280 Cadherin 20.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTTAATGATGTAAATGACAA 0.418 TCGA Ovarian(4;0.039) 11 35 --- --- --- --- PASS SORL1 6653 broad.mit.edu 37 11 121460075 121460075 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:121460075G>C uc001pxx.2 + 29 4134 c.4054G>C c.(4054-4056)GAT>CAT p.D1352H SORL1_uc010rzp.1_Missense_Mutation_p.D198H|SORL1_uc010rzq.1_5'Flank NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1352 Extracellular (Potential).|LDL-receptor class A 7. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGATTGCGGCGATTATTCTGA 0.483 31 92 --- --- --- --- PASS GRAMD1B 57476 broad.mit.edu 37 11 123476185 123476185 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:123476185C>A uc001pyx.2 + 9 1222 c.893C>A c.(892-894)TCG>TAG p.S298* GRAMD1B_uc001pyw.2_Nonsense_Mutation_p.S305*|GRAMD1B_uc010rzw.1_Nonsense_Mutation_p.S258*|GRAMD1B_uc010rzx.1_Nonsense_Mutation_p.S258*|GRAMD1B_uc009zbe.1_Nonsense_Mutation_p.S294*|GRAMD1B_uc001pyy.2_5'Flank NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 298 integral to membrane 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;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GCCCCCGTCTCGGTATGGGCA 0.562 4 81 --- --- --- --- PASS ARHGAP32 9743 broad.mit.edu 37 11 128839232 128839232 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:128839232G>A uc009zcp.2 - 22 5834 c.5834C>T c.(5833-5835)TCC>TTC p.S1945F ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.S904F|ARHGAP32_uc001qez.2_Missense_Mutation_p.S1596F NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1945 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 CATCTCTTTGGAGAGCCTTAC 0.507 15 41 --- --- --- --- PASS VPS26B 112936 broad.mit.edu 37 11 134114844 134114844 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr11:134114844C>T uc001qhe.2 + 5 1190 c.734C>T c.(733-735)CCG>CTG p.P245L NM_052875 NP_443107 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B 245 protein transport|vacuolar transport cytosol|retromer complex 0 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) GAGTCCATCCCGATCCGGCTC 0.582 OREG0021548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 28 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6058963 6058963 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:6058963G>T uc001qnn.1 - 51 8492 c.8242C>A c.(8242-8244)CAC>AAC p.H2748N VWF_uc010set.1_3'UTR NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2748 CTCK. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) TGGCAGTAGTGGATATCCACC 0.522 5 67 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26780971 26780971 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:26780971G>T uc001rhg.2 - 23 3476 c.3059C>A c.(3058-3060)CCA>CAA p.P1020Q NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1020 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) GATACCTGATGGTAGTAAAGT 0.318 13 204 --- --- --- --- PASS BICD1 636 broad.mit.edu 37 12 32490544 32490544 + Silent SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:32490544C>G uc001rku.2 + 7 2445 c.2364C>G c.(2362-2364)CTC>CTG p.L788L BICD1_uc001rkv.2_Silent_p.L788L|BICD1_uc010skd.1_RNA|BICD1_uc001rkw.1_Silent_p.L70L NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 788 Potential.|Interacts with RAB6A. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGCAAAAACTCGCCCTGACCC 0.498 12 38 --- --- --- --- PASS SLC2A13 114134 broad.mit.edu 37 12 40422151 40422151 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:40422151C>T uc010skm.1 - 3 928 c.877G>A c.(877-879)GAT>AAT p.D293N SLC2A13_uc001rmf.2_Missense_Mutation_p.D293N NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 293 Cytoplasmic (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) TTGATGCTATCATATTCCTCA 0.383 HNSCC(50;0.14) 30 83 --- --- --- --- PASS TMEM106C 79022 broad.mit.edu 37 12 48360006 48360006 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:48360006G>T uc001rqp.2 + 5 661 c.546G>T c.(544-546)GAG>GAT p.E182D TMEM106C_uc001rqo.2_Intron|TMEM106C_uc001rqr.2_Missense_Mutation_p.E182D|TMEM106C_uc001rqq.2_Intron NM_024056 NP_076961 Q9BVX2 T106C_HUMAN transmembrane protein 106C isoform a 182 endoplasmic reticulum membrane|integral to membrane 0 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) CTCGGAGTGAGCAACTGGTAT 0.493 8 33 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49420064 49420064 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:49420064G>T uc001rta.3 - 48 15685 c.15685C>A c.(15685-15687)CGC>AGC p.R5229S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5229 FYR N-terminal. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ATAGAACAGCGATAGCAGCAG 0.582 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 4 53 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49446494 49446494 + Splice_Site SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:49446494T>A uc001rta.3 - 9 1113 c.1113_splice c.e9-1 p.R371_splice NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGTGAAAATCTGCAGAGGGTA 0.597 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 6 14 --- --- --- --- PASS LMBR1L 55716 broad.mit.edu 37 12 49491879 49491879 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:49491879C>A uc001rth.3 - 16 1592 c.1250G>T c.(1249-1251)CGC>CTC p.R417L LMBR1L_uc001rtg.3_Missense_Mutation_p.R412L|LMBR1L_uc001rti.3_Missense_Mutation_p.R397L NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN lipocalin-interacting membrane receptor 417 Extracellular (Potential). endocytosis integral to membrane|plasma membrane receptor activity pancreas(1) 1 CAGGTCAAAGCGAGTGAGCCC 0.557 OREG0021783 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 132 --- --- --- --- PASS KRT77 374454 broad.mit.edu 37 12 53091605 53091605 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:53091605C>A uc001saw.2 - 2 648 c.619G>T c.(619-621)GGA>TGA p.G207* KRT77_uc009zmi.2_5'UTR NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN keratin 77 207 Linker 1.|Rod. keratin filament structural molecule activity ovary(1) 1 TTGTTGGTTCCAGTTGAGGTG 0.567 7 169 --- --- --- --- PASS SOAT2 8435 broad.mit.edu 37 12 53516877 53516877 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:53516877C>T uc001sbv.2 + 13 1337 c.1249C>T c.(1249-1251)CGG>TGG p.R417W SOAT2_uc009zms.2_RNA NM_003578 NP_003569 O75908 SOAT2_HUMAN acyl-CoA:cholesterol acyltransferase 2 417 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding ovary(1) 1 CCTTGGTGCCCGGGCCCGAGG 0.532 7 9 --- --- --- --- PASS CSAD 51380 broad.mit.edu 37 12 53565707 53565707 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:53565707G>A uc001sby.2 - 6 536 c.410C>T c.(409-411)GCC>GTC p.A137V CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.A164V|CSAD_uc001sbz.2_Missense_Mutation_p.A137V|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Missense_Mutation_p.A137V NM_015989 NP_057073 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 137 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity ovary(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GCCCACCAGGGCCCGCAGTTT 0.557 Hereditary_Prostate_Cancer 10 43 --- --- --- --- PASS ITGA5 3678 broad.mit.edu 37 12 54792386 54792386 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:54792386G>T uc001sga.2 - 28 3006 c.2938C>A c.(2938-2940)CGT>AGT p.R980S NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 980 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 CTCACCTGACGCTCTTTTTGG 0.582 9 20 --- --- --- --- PASS HELB 92797 broad.mit.edu 37 12 66725230 66725230 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:66725230C>T uc001sti.2 + 12 2995 c.2967C>T c.(2965-2967)GTC>GTT p.V989V HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 989 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TCCCTGTAGTCACAGACCACG 0.562 7 31 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70928645 70928645 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:70928645C>T uc001swb.3 - 28 5548 c.5518G>A c.(5518-5520)GAG>AAG p.E1840K uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.E1750K|PTPRB_uc010stp.1_Missense_Mutation_p.E1750K|PTPRB_uc001swc.3_Missense_Mutation_p.E2058K|PTPRB_uc001swa.3_Missense_Mutation_p.E1970K NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1840 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ATGGTCCACTCAGGCAGGACG 0.507 19 48 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78400703 78400703 + Nonsense_Mutation SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:78400703T>A uc001syp.2 + 8 1558 c.1385T>A c.(1384-1386)TTG>TAG p.L462* NAV3_uc001syo.2_Nonsense_Mutation_p.L462* NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 462 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAAAAGTCTTTGCTACAGCCA 0.418 HNSCC(70;0.22) 29 73 --- --- --- --- PASS IKBIP 121457 broad.mit.edu 37 12 99007382 99007382 + Missense_Mutation SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:99007382T>C uc001tfv.2 - 3 1144 c.1034A>G c.(1033-1035)CAC>CGC p.H345R IKBIP_uc001tfw.2_3'UTR NM_201612 NP_963906 Q70UQ0 IKIP_HUMAN IKK interacting protein isoform 2 345 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding 0 ATCTGAAATGTGTGCTATTTC 0.274 17 50 --- --- --- --- PASS NUP37 79023 broad.mit.edu 37 12 102505967 102505967 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:102505967C>A uc001tjc.2 - 2 265 c.200G>T c.(199-201)CGA>CTA p.R67L NUP37_uc009zub.1_Missense_Mutation_p.R67L NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 67 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding ovary(1) 1 GTGAAATGTTCGAAGTGTTTT 0.368 4 66 --- --- --- --- PASS CORO1C 23603 broad.mit.edu 37 12 109042780 109042780 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:109042780C>A uc001tnj.2 - 9 1114 c.1018G>T c.(1018-1020)GAG>TAG p.E340* CORO1C_uc009zva.2_Nonsense_Mutation_p.E393*|CORO1C_uc010sxf.1_Nonsense_Mutation_p.E303* NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C isoform 1 340 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding skin(3) 3 CACTTTCTCTCATGAAGTTTG 0.328 5 44 --- --- --- --- PASS HNF1A 6927 broad.mit.edu 37 12 121434449 121434449 + Missense_Mutation SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr12:121434449A>T uc001tzg.2 + 6 1236 c.1213A>T c.(1213-1215)ATG>TTG p.M405L HNF1A_uc001tze.1_Missense_Mutation_p.M405L|HNF1A_uc001tzf.2_Missense_Mutation_p.M405L|HNF1A_uc010szn.1_Missense_Mutation_p.M405L NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 405 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GAACCTCATCATGGCCTCACT 0.637 Hepatic_Adenoma_Familial_Clustering_of 5 15 --- --- --- --- PASS XPO4 64328 broad.mit.edu 37 13 21436984 21436984 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:21436984C>A uc001unq.3 - 3 225 c.189G>T c.(187-189)GTG>GTT p.V63V XPO4_uc010tcr.1_5'UTR NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 63 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GGACATAGTCCACTTTACTAG 0.348 7 170 --- --- --- --- PASS PABPC3 5042 broad.mit.edu 37 13 25670378 25670378 + Nonsense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:25670378C>G uc001upy.2 + 1 103 c.42C>G c.(40-42)TAC>TAG p.Y14* NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 14 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CCTCGCTCTACGTGGGGGACC 0.637 11 20 --- --- --- --- PASS SHISA2 387914 broad.mit.edu 37 13 26620919 26620919 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:26620919C>A uc001uqm.1 - 2 705 c.620G>T c.(619-621)TGC>TTC p.C207F NM_001007538 NP_001007539 Q6UWI4 SHSA2_HUMAN shisa homolog 2 precursor 207 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 TTCCGGCAAGCAACAGTTGGT 0.602 7 33 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 28919617 28919617 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:28919617G>T uc001usb.3 - 16 2605 c.2320C>A c.(2320-2322)CTC>ATC p.L774I FLT1_uc001usa.3_5'UTR NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 774 Helical; (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTTAATAGGAGCCAGAAGAGA 0.413 8 18 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32709039 32709039 + Splice_Site SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:32709039A>T uc001utx.2 + 9 1382 c.886_splice c.e9-2 p.E296_splice FRY_uc010tdw.1_Splice_Site NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCTGCTTCCCAGGAATGTGCA 0.393 22 57 --- --- --- --- PASS PDS5B 23047 broad.mit.edu 37 13 33344601 33344601 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:33344601G>T uc010abf.2 + 32 4125 c.3967G>T c.(3967-3969)GCA>TCA p.A1323S PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 1323 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TGGACCTCCAGCACCAGAGGA 0.453 11 55 --- --- --- --- PASS LECT1 11061 broad.mit.edu 37 13 53307398 53307398 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:53307398C>A uc001vhf.2 - 3 421 c.310G>T c.(310-312)GGA>TGA p.G104* LECT1_uc001vhg.2_Nonsense_Mutation_p.G104*|LECT1_uc001vhh.2_Nonsense_Mutation_p.G131* NM_007015 NP_008946 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 isoform 1 104 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane ovary(2) 2 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) GCTCCACTTCCCATTTTAAAG 0.388 6 93 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70681347 70681347 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:70681347C>G uc001vip.2 - 1 1279 c.485G>C c.(484-486)GGA>GCA p.G162A KLHL1_uc010thm.1_Missense_Mutation_p.G162A|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 162 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GTGTCCACATCCTTCACCTGT 0.517 25 40 --- --- --- --- PASS CLDN10 9071 broad.mit.edu 37 13 96086185 96086185 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:96086185G>A uc001vmg.2 + 1 333 c.98G>A c.(97-99)CGA>CAA p.R33Q CLDN10_uc010tii.1_Missense_Mutation_p.R33Q NM_182848 NP_878268 P78369 CLD10_HUMAN claudin 10 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GTGACCACGCGAGCCTCCTCG 0.562 8 29 --- --- --- --- PASS RASA3 22821 broad.mit.edu 37 13 114781703 114781703 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:114781703C>T uc001vui.2 - 13 1382 c.1251G>A c.(1249-1251)TTG>TTA p.L417L RASA3_uc010tkk.1_Silent_p.L385L|RASA3_uc001vuj.2_Silent_p.L34L NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 417 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CTCCGTCTTTCAACTTCACAG 0.517 4 15 --- --- --- --- PASS ZNF828 283489 broad.mit.edu 37 13 115091231 115091231 + Missense_Mutation SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr13:115091231A>T uc010ahb.2 + 3 2243 c.1914A>T c.(1912-1914)AAA>AAT p.K638N ZNF828_uc001vuv.2_Missense_Mutation_p.K638N|ZNF828_uc010tko.1_Missense_Mutation_p.K638N NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 638 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) AGTACATAAAAACAGATTTGG 0.393 10 73 --- --- --- --- PASS OR11H12 440153 broad.mit.edu 37 14 19378014 19378014 + Missense_Mutation SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr14:19378014A>G uc010tkp.1 + 1 421 c.421A>G c.(421-423)ATC>GTC p.I141V NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 141 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTACCTTGCTATCTGCCGTCC 0.453 11 148 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23884304 23884304 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr14:23884304C>T uc001wjx.2 - 37 5565 c.5459G>A c.(5458-5460)CGG>CAG p.R1820Q NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1820 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCCAGCTCCCGCACCCGCGC 0.627 10 81 --- --- --- --- PASS NOVA1 4857 broad.mit.edu 37 14 26917955 26917955 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr14:26917955G>T uc001wpy.2 - 5 1052 c.734C>A c.(733-735)CCA>CAA p.P245Q NOVA1_uc001wpz.2_Missense_Mutation_p.P221Q|NOVA1_uc001wqa.2_Missense_Mutation_p.P123Q NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 248 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) GCCACTTTGTGGATCCTCTTG 0.453 5 52 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52520558 52520558 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr14:52520558C>G uc001wzo.2 - 5 1402 c.1168G>C c.(1168-1170)GAG>CAG p.E390Q NID2_uc010tqs.1_Missense_Mutation_p.E390Q|NID2_uc010tqt.1_Missense_Mutation_p.E390Q|NID2_uc001wzp.2_Missense_Mutation_p.E390Q NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 390 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CTTCTGGTCTCTCTCTCATCC 0.547 14 31 --- --- --- --- PASS SAMD4A 23034 broad.mit.edu 37 14 55231189 55231189 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr14:55231189G>T uc001xbb.2 + 7 1525 c.1524G>T c.(1522-1524)TTG>TTT p.L508F SAMD4A_uc001xbc.2_Missense_Mutation_p.L420F|SAMD4A_uc001xbg.2_Missense_Mutation_p.L100F NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4 isoform 509 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity 0 CACAGCTCTTGGTCTCCAGAC 0.388 6 169 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64599130 64599130 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr14:64599130G>T uc001xgm.2 + 77 14718 c.14488G>T c.(14488-14490)GGT>TGT p.G4830C SYNE2_uc001xgl.2_Missense_Mutation_p.G4830C|SYNE2_uc010apy.2_Missense_Mutation_p.G1215C|SYNE2_uc010apz.1_Missense_Mutation_p.G722C NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4830 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ACGCCAATGTGGTATGAAGCT 0.403 6 77 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68220848 68220848 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr14:68220848G>T uc001xka.2 - 38 7207 c.7068C>A c.(7066-7068)ACC>ACA p.T2356T ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.T202T NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2356 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GAGGCAAAGTGGTGATTTGAG 0.488 8 185 --- --- --- --- PASS PTPN21 11099 broad.mit.edu 37 14 88945368 88945368 + Missense_Mutation SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr14:88945368T>A uc001xwv.3 - 13 2738 c.2407A>T c.(2407-2409)ACG>TCG p.T803S PTPN21_uc010twc.1_Missense_Mutation_p.T599S NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 803 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 CGGCCTGACGTGGTGAGGTCG 0.652 9 22 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94008943 94008943 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr14:94008943G>A uc001ybv.1 + 11 1208 c.1125G>A c.(1123-1125)CTG>CTA p.L375L KIAA1409_uc001ybs.1_Silent_p.L375L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 552 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TGGAAAAGCTGAAGCCTCAGT 0.498 20 61 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23811260 23811260 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:23811260G>T uc001ywh.3 + 1 807 c.331G>T c.(331-333)GAG>TAG p.E111* MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Nonsense_Mutation_p.E111* NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 111 C3H1-type 1. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GCAGTGCAAGGAGGGGGAGAA 0.597 31 46 --- --- --- --- PASS TGM5 9333 broad.mit.edu 37 15 43527770 43527770 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:43527770C>A uc001zrd.1 - 10 1619 c.1611G>T c.(1609-1611)AAG>AAT p.K537N TGM5_uc001zrc.1_Missense_Mutation_p.K194N|TGM5_uc001zre.1_Missense_Mutation_p.K455N NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 537 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CTTTGAGGTCCTTGAACTGGG 0.557 12 23 --- --- --- --- PASS TP53BP1 7158 broad.mit.edu 37 15 43707872 43707872 + Nonsense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:43707872G>C uc001zrs.2 - 23 5142 c.4994C>G c.(4993-4995)TCA>TGA p.S1665* TP53BP1_uc010udp.1_Nonsense_Mutation_p.S1665*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.S1670*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.S1670*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.S1670*|TP53BP1_uc001zrp.2_Nonsense_Mutation_p.S82* NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1665 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TCTTTTGCCTGAGAGAACTCC 0.537 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 4 91 --- --- --- --- PASS GLDN 342035 broad.mit.edu 37 15 51676070 51676070 + Silent SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:51676070T>C uc002aba.2 + 4 691 c.522T>C c.(520-522)AAT>AAC p.N174N GLDN_uc010bez.1_Missense_Mutation_p.M157T|GLDN_uc002abb.2_Silent_p.N50N NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 174 Extracellular (Potential).|Collagen-like 1. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) AAGGAGCAAATGGAAAAAGAG 0.468 7 12 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 53889379 53889379 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:53889379G>T uc002acj.2 - 18 3087 c.3045C>A c.(3043-3045)TCC>TCA p.S1015S NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1015 lung(1)|skin(1) 2 all cancers(107;0.0511) TCTCTGCCATGGACACTGGTT 0.448 7 153 --- --- --- --- PASS LRRC49 54839 broad.mit.edu 37 15 71302258 71302258 + Missense_Mutation SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:71302258A>G uc002asw.2 + 13 1767 c.1520A>G c.(1519-1521)AAT>AGT p.N507S LRRC49_uc002asu.2_Missense_Mutation_p.N497S|LRRC49_uc002asx.2_Missense_Mutation_p.N463S|LRRC49_uc010ukf.1_Missense_Mutation_p.N512S|LRRC49_uc002asy.2_Missense_Mutation_p.N213S|LRRC49_uc002asz.2_Missense_Mutation_p.N479S NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 507 cytoplasm|microtubule ovary(1) 1 CCAGTTGTCAATTTTACACTC 0.373 21 44 --- --- --- --- PASS SGK269 79834 broad.mit.edu 37 15 77471444 77471444 + Missense_Mutation SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:77471444T>A uc002bcm.2 - 3 3133 c.2825A>T c.(2824-2826)GAC>GTC p.D942V SGK269_uc002bcn.2_Missense_Mutation_p.D942V NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 942 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TTTCTCTTTGTCATCCTCCTC 0.522 11 35 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86122678 86122678 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:86122678C>T uc002blv.1 + 7 1549 c.1379C>T c.(1378-1380)TCC>TTC p.S460F AKAP13_uc002blt.1_Missense_Mutation_p.S460F|AKAP13_uc002blu.1_Missense_Mutation_p.S460F NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 460 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GCCCAGTATTCCTCTGGAGGT 0.522 7 114 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86124952 86124952 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:86124952C>T uc002blv.1 + 7 3823 c.3653C>T c.(3652-3654)GCC>GTC p.A1218V AKAP13_uc002blt.1_Missense_Mutation_p.A1218V|AKAP13_uc002blu.1_Missense_Mutation_p.A1218V|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1218 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GTCATGCGAGCCCCGCCTTCA 0.612 6 34 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86125189 86125189 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:86125189C>T uc002blv.1 + 7 4060 c.3890C>T c.(3889-3891)ACA>ATA p.T1297I AKAP13_uc002blt.1_Missense_Mutation_p.T1297I|AKAP13_uc002blu.1_Missense_Mutation_p.T1297I|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1297 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 AGTGCTTTTACAGAAAAAGTG 0.552 14 84 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100332419 100332419 + RNA SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr15:100332419C>A uc010urx.1 - 5 c.1773G>T C15orf51_uc010ury.1_RNA NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 TATGGACCTCCTGGAGGAGAA 0.557 22 81 --- --- --- --- PASS RHOT2 89941 broad.mit.edu 37 16 723528 723528 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:723528G>T uc002cip.2 + 19 1846 c.1779G>T c.(1777-1779)GGG>GGT p.G593G RHOT2_uc002ciq.2_Silent_p.G486G|RHOT2_uc010bqy.2_Silent_p.G372G|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank|RHBDL1_uc002cis.1_5'Flank NM_138769 NP_620124 Q8IXI1 MIRO2_HUMAN ras homolog gene family, member T2 593 Miro 2.|Helical; Anchor for type IV membrane protein; (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding pancreas(1) 1 Hepatocellular(780;0.0218) GGCTCCGGGGGCTGCTGGGGG 0.622 12 46 --- --- --- --- PASS HCFC1R1 54985 broad.mit.edu 37 16 3073520 3073520 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:3073520C>A uc002csx.1 - 3 240 c.107G>T c.(106-108)CGA>CTA p.R36L HCFC1R1_uc002csy.1_Missense_Mutation_p.R36L|HCFC1R1_uc002csz.1_Intron|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank NM_001002018 NP_001002018 Q9NWW0 HPIP_HUMAN host cell factor C1 regulator 1 (XPO1 dependant) 36 cytoplasm|nucleus 0 CACAGCTCCTCGGAGAGGGGA 0.632 3 11 --- --- --- --- PASS GLYR1 84656 broad.mit.edu 37 16 4871572 4871572 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:4871572C>T uc002cxx.3 - 8 745 c.708G>A c.(706-708)ACG>ACA p.T236T GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Intron|GLYR1_uc002cya.2_Silent_p.T236T|GLYR1_uc010uxv.1_Silent_p.T155T NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 236 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 TCAACTTCTTCGTGATTGCCT 0.448 7 38 --- --- --- --- PASS PALB2 79728 broad.mit.edu 37 16 23614791 23614791 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:23614791G>T uc002dlx.1 - 13 3750 c.3550C>A c.(3550-3552)CAC>AAC p.H1184N NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 1184 Interaction with RAD51 and BRCA2.|WD 7. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) TATGAATAGTGGTATACAAAT 0.358 F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 5 47 --- --- --- --- PASS TAOK2 9344 broad.mit.edu 37 16 29997772 29997772 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:29997772G>T uc002dva.1 + 16 2962 c.2179G>T c.(2179-2181)GAG>TAG p.E727* uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Nonsense_Mutation_p.E727*|TAOK2_uc002dvc.1_Nonsense_Mutation_p.E727*|TAOK2_uc010bzm.1_Nonsense_Mutation_p.E734*|TAOK2_uc002dvd.1_Nonsense_Mutation_p.E554* NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 727 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GCGTGAGCAAGAGTTGCGGCA 0.677 7 56 --- --- --- --- PASS STX1B 112755 broad.mit.edu 37 16 31008036 31008036 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:31008036C>G uc010cad.2 - 7 617 c.505G>C c.(505-507)GAG>CAG p.E169Q STX1B_uc010vfd.1_Missense_Mutation_p.E169Q NM_052874 NP_443106 P61266 STX1B_HUMAN syntaxin 1B 169 Cytoplasmic (Potential). intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane extracellular-glutamate-gated ion channel activity|SNAP receptor activity 0 TTCCCGCTCTCCAGCATGTCT 0.607 8 35 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49671724 49671724 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:49671724G>T uc002efs.2 - 5 1637 c.1339C>A c.(1339-1341)CTG>ATG p.L447M ZNF423_uc010vgn.1_Missense_Mutation_p.L330M NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 447 C2H2-type 10. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) ATGGAGTCCAGGCAGATCTGA 0.562 5 55 --- --- --- --- PASS CHD9 80205 broad.mit.edu 37 16 53272410 53272410 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:53272410G>T uc002ehb.2 + 11 2953 c.2789G>T c.(2788-2790)TGG>TTG p.W930L CHD9_uc002egy.2_Missense_Mutation_p.W930L|CHD9_uc002eha.1_Missense_Mutation_p.W930L|CHD9_uc002ehc.2_Missense_Mutation_p.W930L|CHD9_uc002ehf.2_Missense_Mutation_p.W44L|CHD9_uc002ehd.2_Missense_Mutation_p.W456L|CHD9_uc002ehe.1_Missense_Mutation_p.W44L NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 930 Helicase ATP-binding. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TTTCGTACGTGGACTGATATT 0.403 6 141 --- --- --- --- PASS SLC9A5 6553 broad.mit.edu 37 16 67286512 67286512 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:67286512G>A uc002esm.2 + 2 318 c.255G>A c.(253-255)CTG>CTA p.L85L SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 85 Helical; (Potential). regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) TGCTGGGCCTGGTGCTAGGGG 0.522 28 57 --- --- --- --- PASS FAM65A 79567 broad.mit.edu 37 16 67575630 67575630 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:67575630C>A uc010vjp.1 + 12 1181 c.1085C>A c.(1084-1086)TCC>TAC p.S362Y FAM65A_uc010cei.1_Missense_Mutation_p.S184Y|FAM65A_uc002eth.2_Missense_Mutation_p.S342Y|FAM65A_uc010cej.2_Missense_Mutation_p.S345Y|FAM65A_uc002eti.1_Missense_Mutation_p.S305Y|FAM65A_uc010vjq.1_Missense_Mutation_p.S356Y|FAM65A_uc002etj.1_Missense_Mutation_p.S341Y|FAM65A_uc002etk.2_Missense_Mutation_p.S341Y NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 346 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) AAGCGCTTCTCCACCTATAGC 0.592 5 50 --- --- --- --- PASS ADAT1 23536 broad.mit.edu 37 16 75637051 75637051 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:75637051C>A uc002feo.1 - 10 1410 c.1308G>T c.(1306-1308)GTG>GTT p.V436V ADAT1_uc002fep.1_Silent_p.V287V NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 436 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity ovary(1)|skin(1) 2 TGAAGAGTTCCACTTTGCTGA 0.413 8 212 --- --- --- --- PASS DPEP1 1800 broad.mit.edu 37 16 89702987 89702987 + Silent SNP C T T rs150009384 byFrequency TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr16:89702987C>T uc010cin.2 + 5 620 c.417C>T c.(415-417)GGC>GGT p.G139G DPEP1_uc002fnr.3_Silent_p.G139G|DPEP1_uc002fns.3_Silent_p.G139G NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 139 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) GCCTGATCGGCGTGGAGGGCG 0.657 6 11 --- --- --- --- PASS SUPT6H 6830 broad.mit.edu 37 17 27026896 27026896 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:27026896C>A uc002hby.2 + 33 4636 c.4546C>A c.(4546-4548)CAG>AAG p.Q1516K SUPT6H_uc010crt.2_Missense_Mutation_p.Q1516K NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 1516 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) GGATCACTACCAGGATCCTGT 0.527 6 114 --- --- --- --- PASS KRTAP1-3 81850 broad.mit.edu 37 17 39190915 39190915 + Silent SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:39190915A>G uc002hvv.2 - 1 193 c.159T>C c.(157-159)AGT>AGC p.S53S NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 63 Missing (in allele KAP1.9). GFPSFSTSGTCSS -> DFLASQLVDLQL (in Ref. 1). extracellular region|keratin filament structural constituent of epidermis 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGCAGGTCCCACTAGTTGAGA 0.627 16 28 --- --- --- --- PASS NFE2L1 4779 broad.mit.edu 37 17 46135698 46135698 + Silent SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:46135698T>C uc002imz.3 + 6 1665 c.1014T>C c.(1012-1014)AGT>AGC p.S338S NFE2L1_uc002ina.3_Silent_p.S308S|NFE2L1_uc002inb.3_Silent_p.S308S|NFE2L1_uc010wle.1_Silent_p.S150S|NFE2L1_uc010wlf.1_Silent_p.S182S NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 338 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 TCCTGTACAGTGCCCCTCCTG 0.582 19 56 --- --- --- --- PASS TTLL6 284076 broad.mit.edu 37 17 46847099 46847099 + Missense_Mutation SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:46847099T>C uc010wlo.1 - 15 2436 c.2401A>G c.(2401-2403)AAC>GAC p.N801D TTLL6_uc002iob.2_Missense_Mutation_p.N494D|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Missense_Mutation_p.N554D|TTLL6_uc002iod.2_Intron NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 753 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 CGTGACAGGTTATTCATCCCC 0.338 13 52 --- --- --- --- PASS NGFR 4804 broad.mit.edu 37 17 47583905 47583905 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:47583905C>T uc002ioz.3 + 3 578 c.453C>T c.(451-453)GAC>GAT p.D151D NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 151 Extracellular (Potential).|TNFR-Cys 4. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) AGTGCCCCGACGGCACGTATT 0.711 10 17 --- --- --- --- PASS MBTD1 54799 broad.mit.edu 37 17 49281158 49281158 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:49281158G>T uc002itr.3 - 8 1077 c.733C>A c.(733-735)CCT>ACT p.P245T MBTD1_uc002itp.3_Missense_Mutation_p.P81T|MBTD1_uc002itq.3_Missense_Mutation_p.P245T NM_017643 NP_060113 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 245 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) TTACTTCTAGGAGGAACAAGA 0.348 6 138 --- --- --- --- PASS BRIP1 83990 broad.mit.edu 37 17 59821886 59821886 + Missense_Mutation SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:59821886T>C uc002izk.1 - 15 2305 c.2164A>G c.(2164-2166)ACA>GCA p.T722A BRIP1_uc002izl.1_Missense_Mutation_p.T103A NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 722 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 ACAATGACTGTCTTCACCAAC 0.353 F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 26 92 --- --- --- --- PASS MARCH10 162333 broad.mit.edu 37 17 60813646 60813646 + Missense_Mutation SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:60813646T>C uc010ddr.2 - 6 1821 c.1583A>G c.(1582-1584)CAT>CGT p.H528R MARCH10_uc002jag.3_Missense_Mutation_p.H528R|MARCH10_uc010dds.2_Missense_Mutation_p.H566R|MARCH10_uc002jah.2_Missense_Mutation_p.H527R|uc002jaj.1_RNA|uc002jak.2_RNA NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 528 ligase activity|zinc ion binding 0 GAAATAATTATGGTTTTCGGC 0.453 14 57 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 17 78282825 78282825 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:78282825G>T uc002jyf.2 + 14 2652 c.2509G>T c.(2509-2511)GAG>TAG p.E837* uc002jyg.1_Nonsense_Mutation_p.E568* NM_020954 NP_066005 hypothetical protein LOC57714 CAGGATTCCCGAGGAGGCCTT 0.478 5 95 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78348267 78348267 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:78348267C>A uc002jyh.1 + 25 7394 c.7171C>A c.(7171-7173)CAG>AAG p.Q2391K uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.Q773K NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GGGGCTGCGGCAGGACCACCC 0.552 7 24 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78355400 78355400 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:78355400G>A uc002jyh.1 + 32 8293 c.8070G>A c.(8068-8070)CAG>CAA p.Q2690Q uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.Q1072Q NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCTTTCTGCAGCAGCACATCC 0.572 21 46 --- --- --- --- PASS RAB12 201475 broad.mit.edu 37 18 8609907 8609907 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr18:8609907G>A uc002knp.2 + 1 465 c.182G>A c.(181-183)CGC>CAC p.R61H RAB12_uc002kno.1_Missense_Mutation_p.R157H NM_001025300 NP_001020471 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 61 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding 0 CTGATGGAGCGCTTCACCGAC 0.706 4 10 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31323263 31323263 + Missense_Mutation SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr18:31323263A>G uc010dmg.1 + 12 3506 c.3451A>G c.(3451-3453)AAA>GAA p.K1151E ASXL3_uc002kxq.2_Missense_Mutation_p.K858E NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CCCTGAAACAAAAATGGAAGG 0.502 7 21 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31325671 31325671 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr18:31325671G>T uc010dmg.1 + 12 5914 c.5859G>T c.(5857-5859)AAG>AAT p.K1953N ASXL3_uc002kxq.2_Missense_Mutation_p.K1660N NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1953 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CCTCTTCCAAGACCCCAGTGG 0.527 11 61 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31325735 31325735 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr18:31325735G>C uc010dmg.1 + 12 5978 c.5923G>C c.(5923-5925)GTT>CTT p.V1975L ASXL3_uc002kxq.2_Missense_Mutation_p.V1682L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1975 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 ATTGGGAGAGGTTAGTCTTTC 0.507 16 89 --- --- --- --- PASS KIAA1632 57724 broad.mit.edu 37 18 43469849 43469849 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr18:43469849C>A uc002lbm.2 - 28 4966 c.4866G>T c.(4864-4866)AAG>AAT p.K1622N KIAA1632_uc010xcq.1_Missense_Mutation_p.K176N|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.K497N NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1622 Potential. autophagy 0 GCTTCACTTCCTTCCGTAAAA 0.398 7 69 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54424511 54424511 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr18:54424511C>G uc002lgk.1 + 15 2898 c.2687C>G c.(2686-2688)TCT>TGT p.S896C WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S896C NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 896 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TCTATCATTTCTTTGGCAAAT 0.443 22 44 --- --- --- --- PASS CCBE1 147372 broad.mit.edu 37 18 57103145 57103145 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr18:57103145G>T uc002lib.2 - 11 1286 c.1216C>A c.(1216-1218)CCA>ACA p.P406T CCBE1_uc010dpq.2_Missense_Mutation_p.P135T|CCBE1_uc002lia.2_Missense_Mutation_p.P259T NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 406 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) ATGTGCTATGGGTAGAAGTCT 0.493 10 218 --- --- --- --- PASS CDH19 28513 broad.mit.edu 37 18 64172361 64172361 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr18:64172361C>G uc002lkc.1 - 12 2145 c.2007G>C c.(2005-2007)AAG>AAC p.K669N CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 669 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TTTTCCGAGTCTTGCGTTCCC 0.463 11 93 --- --- --- --- PASS CBLN2 147381 broad.mit.edu 37 18 70205487 70205487 + Missense_Mutation SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr18:70205487A>G uc002lku.2 - 4 834 c.599T>C c.(598-600)CTC>CCC p.L200P CBLN2_uc002lkv.2_Missense_Mutation_p.L200P NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 200 C1q. integral to membrane 0 Esophageal squamous(42;0.131) CTCAAGTTTGAGATGCACTTT 0.527 14 50 --- --- --- --- PASS ABCA7 10347 broad.mit.edu 37 19 1058728 1058728 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:1058728G>T uc002lqw.3 + 38 5492 c.5261G>T c.(5260-5262)CGA>CTA p.R1754L ABCA7_uc002lqy.2_Missense_Mutation_p.R207L|ABCA7_uc010dsc.2_RNA NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1754 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCAGCACCGAAGCCAACTC 0.587 4 47 --- --- --- --- PASS XAB2 56949 broad.mit.edu 37 19 7688675 7688675 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:7688675G>A uc002mgx.2 - 8 1087 c.1061C>T c.(1060-1062)CCA>CTA p.P354L NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 354 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 CACGTGGTGTGGGTTTTGGCG 0.667 Direct_reversal_of_damage|NER 4 13 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8201158 8201158 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:8201158C>A uc002mjf.2 - 11 1402 c.1381G>T c.(1381-1383)GGT>TGT p.G461C NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 461 EGF-like 4; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 ACGCAGTCACCGTGGTGGCAG 0.667 8 12 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9059671 9059671 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:9059671G>T uc002mkp.2 - 3 27979 c.27775C>A c.(27775-27777)CCC>ACC p.P9259T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9261 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCTCCTGTGGGGTAGGTGATA 0.468 6 80 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9070727 9070727 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:9070727C>T uc002mkp.2 - 3 16923 c.16719G>A c.(16717-16719)GGG>GGA p.G5573G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5575 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGATGTAGCCCCAGGAGTAG 0.512 13 156 --- --- --- --- PASS USE1 55850 broad.mit.edu 37 19 17327016 17327016 + Silent SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:17327016G>T uc002nfo.2 + 4 330 c.270G>T c.(268-270)CTG>CTT p.L90L USE1_uc002nfn.2_Silent_p.L90L|USE1_uc010eal.1_Silent_p.L90L NM_018467 NP_060937 Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog 90 Cytoplasmic (Potential). lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding 0 ACCAGTTCCTGGCCCCTGGCC 0.617 11 24 --- --- --- --- PASS USE1 55850 broad.mit.edu 37 19 17327017 17327017 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:17327017G>T uc002nfo.2 + 4 331 c.271G>T c.(271-273)GCC>TCC p.A91S USE1_uc002nfn.2_Missense_Mutation_p.A91S|USE1_uc010eal.1_Missense_Mutation_p.A91S NM_018467 NP_060937 Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog 91 Cytoplasmic (Potential). lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding 0 CCAGTTCCTGGCCCCTGGCCG 0.617 12 24 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22940797 22940797 + Silent SNP T C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:22940797T>C uc010xrh.1 - 5 1641 c.1641A>G c.(1639-1641)AAA>AAG p.K547K 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) TTATCTCATGTTTTCTAAGGG 0.368 11 36 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23544231 23544231 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:23544231G>C uc002nre.2 - 4 1663 c.1550C>G c.(1549-1551)CCC>CGC p.P517R ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P485R NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 517 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AAATTTGTAGGGTTTCTCTCC 0.353 8 44 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23578154 23578154 + Missense_Mutation SNP C G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:23578154C>G uc002nre.2 - 1 116 c.3G>C c.(1-3)ATG>ATC p.M1I ZNF91_uc010xrj.1_Missense_Mutation_p.M1I NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 1 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGGTTCCTGGCATCTTAGCTG 0.612 15 63 --- --- --- --- PASS FFAR3 2865 broad.mit.edu 37 19 35849930 35849930 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:35849930C>T uc002nzd.2 + 2 213 c.138C>T c.(136-138)CGC>CGT p.R46R FFAR3_uc010xsu.1_RNA NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 46 Cytoplasmic. integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TGCAGCGCCGCCCGGTGGCCG 0.642 14 132 --- --- --- --- PASS PSMC4 5704 broad.mit.edu 37 19 40478439 40478439 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:40478439C>T uc002omq.2 + 3 336 c.299C>T c.(298-300)ACA>ATA p.T100I PSMC4_uc002omr.2_Missense_Mutation_p.T69I NM_006503 NP_006494 P43686 PRS6B_HUMAN proteasome 26S ATPase subunit 4 isoform 1 100 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding ovary(1) 1 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GATCAGAATACAGCCATCGTG 0.488 7 22 --- --- --- --- PASS LYPD4 147719 broad.mit.edu 37 19 42342205 42342205 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:42342205G>A uc002orp.1 - 4 1326 c.342C>T c.(340-342)CTC>CTT p.L114L LYPD4_uc002orq.1_Silent_p.L79L NM_173506 NP_775777 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 precursor 114 anchored to membrane|plasma membrane ovary(1) 1 GGTTGTTGCAGAGATAAGACC 0.552 17 62 --- --- --- --- PASS CIC 23152 broad.mit.edu 37 19 42794659 42794659 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:42794659G>C uc002otf.1 + 10 1779 c.1739G>C c.(1738-1740)GGT>GCT p.G580A NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 580 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) GGGGCTGGGGGTCCAGCGACA 0.677 T DUX4 soft tissue sarcoma 15 31 --- --- --- --- PASS IGFL1 374918 broad.mit.edu 37 19 46733753 46733753 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:46733753C>A uc002pee.2 + 3 325 c.302C>A c.(301-303)TCG>TAG p.S101* NM_198541 NP_940943 Q6UW32 IGFL1_HUMAN IGF-like family member 1 precursor 101 extracellular space protein binding 0 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201) GCCCGGACCTCGGATGACAGG 0.587 5 102 --- --- --- --- PASS C5AR1 728 broad.mit.edu 37 19 47823500 47823500 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:47823500G>T uc002pgj.1 + 2 515 c.466G>T c.(466-468)GCC>TCC p.A156S NM_001736 NP_001727 P21730 C5AR_HUMAN complement component 5 receptor 1 156 Helical; Name=4; (Potential). activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) GGCCTGGATCGCCTGTGCCGT 0.607 10 45 --- --- --- --- PASS CARD8 22900 broad.mit.edu 37 19 48737714 48737714 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:48737714G>A uc002pie.3 - 3 335 c.22C>T c.(22-24)CAT>TAT p.H8Y CARD8_uc002pii.3_Missense_Mutation_p.P99L|CARD8_uc010xzi.1_Missense_Mutation_p.H8Y|CARD8_uc010els.2_5'Flank|CARD8_uc010xzj.1_Missense_Mutation_p.P99L|CARD8_uc010xzk.1_Missense_Mutation_p.H32Y|CARD8_uc002pif.3_Missense_Mutation_p.H8Y|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Missense_Mutation_p.P49L|CARD8_uc010xzl.1_Missense_Mutation_p.P49L|CARD8_uc010xzm.1_Missense_Mutation_p.P99L NM_014959 NP_055774 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 8 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity 0 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) GAACAATAATGGCTCTGCCTC 0.458 17 57 --- --- --- --- PASS SLC6A16 28968 broad.mit.edu 37 19 49793961 49793961 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:49793961C>A uc002pmz.2 - 11 2076 c.1842G>T c.(1840-1842)TGG>TGT p.W614C SLC6A16_uc002pna.2_Missense_Mutation_p.W614C NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 614 Helical; Name=11; (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) ACAGATGGGGCCACAGCCAAC 0.537 3 9 --- --- --- --- PASS ZNF761 388561 broad.mit.edu 37 19 53958064 53958064 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:53958064G>T uc010eqp.2 + 7 761 c.303G>T c.(301-303)TGG>TGT p.W101C ZNF761_uc010ydy.1_Missense_Mutation_p.W47C|ZNF761_uc002qbt.1_Missense_Mutation_p.W47C NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) AATTTCAATGGCAAGAAGATG 0.363 23 57 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54313983 54313983 + Nonsense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:54313983C>T uc002qch.3 - 3 1150 c.930G>A c.(928-930)TGG>TGA p.W310* NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Nonsense_Mutation_p.W310*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.W310*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Nonsense_Mutation_p.W310* NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 310 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGCAGAGGCACCAGGGTCCCT 0.572 10 25 --- --- --- --- PASS ZNF471 57573 broad.mit.edu 37 19 57037235 57037235 + Missense_Mutation SNP A T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:57037235A>T uc002qnh.2 + 5 1932 c.1799A>T c.(1798-1800)CAG>CTG p.Q600L NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 600 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AGGCCCTATCAGTGTTTTGAA 0.423 22 42 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328739 57328739 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:57328739C>A uc002qnu.2 - 7 1422 c.1071G>T c.(1069-1071)AGG>AGT p.R357S ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R328S|PEG3_uc002qnv.2_Missense_Mutation_p.R357S|PEG3_uc002qnw.2_Missense_Mutation_p.R233S|PEG3_uc002qnx.2_Missense_Mutation_p.R231S|PEG3_uc010etr.2_Missense_Mutation_p.R357S NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 357 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCACTGACTCCCTCTTGTTCA 0.458 20 47 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57641512 57641512 + Missense_Mutation SNP A C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:57641512A>C uc002qny.2 + 4 1825 c.1469A>C c.(1468-1470)AAG>ACG p.K490T NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 490 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGATGTGTAAGCAGAAGAGT 0.393 18 110 --- --- --- --- PASS ZIK1 284307 broad.mit.edu 37 19 58099930 58099930 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr19:58099930C>A uc002qpg.2 + 3 193 c.96C>A c.(94-96)ATC>ATA p.I32I ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_5'UTR|ZIK1_uc002qpi.2_Silent_p.I19I|ZIK1_uc002qpj.2_Intron NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTGAGGACATCGCCATTTACT 0.522 25 63 --- --- --- --- PASS TRPC4AP 26133 broad.mit.edu 37 20 33623108 33623108 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr20:33623108G>T uc002xbk.2 - 8 903 c.869C>A c.(868-870)GCC>GAC p.A290D TRPC4AP_uc010zuq.1_5'UTR|TRPC4AP_uc002xbl.2_Missense_Mutation_p.A290D|TRPC4AP_uc010zur.1_Missense_Mutation_p.A251D|TRPC4AP_uc002xbm.1_Missense_Mutation_p.A290D NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 290 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) GCTGAGAAGGGCCGCTGCCAG 0.483 13 22 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40710638 40710638 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr20:40710638C>A uc002xkg.2 - 30 4340 c.4156G>T c.(4156-4158)GGA>TGA p.G1386* PTPRT_uc010ggj.2_Nonsense_Mutation_p.G1405*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.G589* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1386 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CAGAAGGTTCCACTACGGCCT 0.478 5 54 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40713348 40713348 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr20:40713348C>A uc002xkg.2 - 29 4294 c.4110G>T c.(4108-4110)AGG>AGT p.R1370S PTPRT_uc010ggj.2_Missense_Mutation_p.R1389S|PTPRT_uc010ggi.2_Missense_Mutation_p.R573S NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1370 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TACGTCCCTCCCTCCCGTCAT 0.607 4 17 --- --- --- --- PASS NPBWR2 2832 broad.mit.edu 37 20 62737703 62737703 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr20:62737703C>T uc011abt.1 - 1 482 c.482G>A c.(481-483)CGG>CAG p.R161Q NM_005286 NP_005277 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 161 Cytoplasmic (Potential). plasma membrane opioid receptor activity|protein binding large_intestine(1) 1 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CTTCGCCCCCCGGTAGGTGCG 0.632 7 8 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10920107 10920107 + Nonsense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr21:10920107G>A uc002yip.1 - 19 1515 c.1147C>T c.(1147-1149)CAG>TAG p.Q383* TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.Q365*|TPTE_uc002yir.1_Nonsense_Mutation_p.Q345*|TPTE_uc010gkv.1_Nonsense_Mutation_p.Q245* NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 383 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTACTCCCTGAAATTTTTCG 0.378 7 85 --- --- --- --- PASS BRWD1 54014 broad.mit.edu 37 21 40570785 40570785 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr21:40570785G>T uc002yxk.1 - 40 5696 c.5557C>A c.(5557-5559)CCT>ACT p.P1853T BRWD1_uc010goc.1_Missense_Mutation_p.P496T|BRWD1_uc002yxl.2_Missense_Mutation_p.P1853T NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1853 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATAGCAATAGGGTCACAGTTC 0.363 8 106 --- --- --- --- PASS C21orf57 54059 broad.mit.edu 37 21 47707005 47707005 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr21:47707005C>A uc002ziv.2 + 2 607 c.178C>A c.(178-180)CCA>ACA p.P60T C21orf57_uc002zit.1_Missense_Mutation_p.P60T|C21orf57_uc002ziu.1_Missense_Mutation_p.P60T|C21orf57_uc002ziw.2_Intron|C21orf57_uc002zix.2_Missense_Mutation_p.P60T|C21orf57_uc010gqh.2_Intron|C21orf57_uc002ziy.2_Missense_Mutation_p.P60T|MCM3AP_uc002zir.1_5'Flank NM_058181 NP_478061 P58557 YBEY_HUMAN hypothetical protein LOC54059 isoform 1 60 metal ion binding|metalloendopeptidase activity 0 Breast(49;0.112) Colorectal(79;0.236) TAGAAATGTCCCAACCGATGT 0.363 5 46 --- --- --- --- PASS VPREB1 7441 broad.mit.edu 37 22 22599440 22599440 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:22599440G>A uc002zvx.1 + 2 155 c.129G>A c.(127-129)CTG>CTA p.L43L LOC96610_uc011aim.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN immunoglobulin iota chain precursor 43 Ig-like V-type.|Complementarity-determining-1. immune response extracellular region antigen binding|protein binding 0 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) CCTGCACCCTGAGGAACGACC 0.592 11 89 --- --- --- --- PASS SLC2A11 66035 broad.mit.edu 37 22 24210776 24210776 + Nonsense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:24210776G>T uc002zyn.3 + 3 328 c.229G>T c.(229-231)GGA>TGA p.G77* SLC2A11_uc002zyl.1_Nonsense_Mutation_p.G84*|SLC2A11_uc002zym.3_Nonsense_Mutation_p.G84*|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Nonsense_Mutation_p.G84*|SLC2A11_uc011ajd.1_Nonsense_Mutation_p.G71*|SLC2A11_uc002zyp.3_Nonsense_Mutation_p.G80* NM_001024938 NP_001020109 Q9BYW1 GTR11_HUMAN glucose transporter protein 10 isoform c 77 Helical; Name=2; (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity ovary(1) 1 GTATCCCCTGGGAGGCCTCTT 0.567 5 35 --- --- --- --- PASS C22orf28 51493 broad.mit.edu 37 22 32802670 32802670 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:32802670G>T uc003amm.2 - 4 450 c.319C>A c.(319-321)CCT>ACT p.P107T C22orf28_uc011ama.1_RNA NM_014306 NP_055121 Q9Y3I0 RTCB_HUMAN hypothetical protein LOC51493 107 cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|tRNA-splicing ligase complex ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding 0 ACTGCTTCAGGGTCATTCATA 0.343 7 137 --- --- --- --- PASS RBM9 23543 broad.mit.edu 37 22 36177730 36177730 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:36177730C>A uc003aon.3 - 4 638 c.526G>T c.(526-528)GAG>TAG p.E176* RBM9_uc003aog.3_Nonsense_Mutation_p.E86*|RBM9_uc003aol.3_Nonsense_Mutation_p.E105*|RBM9_uc003aoj.3_Nonsense_Mutation_p.E105*|RBM9_uc003aok.3_Nonsense_Mutation_p.E106*|RBM9_uc003aoh.3_Nonsense_Mutation_p.E105*|RBM9_uc003aom.3_Nonsense_Mutation_p.E105*|RBM9_uc010gwu.2_Nonsense_Mutation_p.E85*|RBM9_uc003aoo.3_Nonsense_Mutation_p.E175*|RBM9_uc003aop.3_Nonsense_Mutation_p.E105* NM_001082578 NP_001076047 O43251 RFOX2_HUMAN RNA binding motif protein 9 isoform 5 115 estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding 0 GATTTACTCTCTGAATTTTCA 0.453 8 176 --- --- --- --- PASS MICALL1 85377 broad.mit.edu 37 22 38333762 38333762 + Missense_Mutation SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:38333762G>T uc003aui.2 + 15 2517 c.2433G>T c.(2431-2433)GAG>GAT p.E811D NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 811 Potential. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) GGGAGGAAGAGGAAGACAAGA 0.338 8 198 --- --- --- --- PASS DMC1 11144 broad.mit.edu 37 22 38934604 38934604 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:38934604C>A uc003avz.1 - 10 775 c.600G>T c.(598-600)ATG>ATT p.M200I DMC1_uc011anv.1_Missense_Mutation_p.M145I NM_007068 NP_008999 Q14565 DMC1_HUMAN DMC1 dosage suppressor of mck1 homolog 200 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding ovary(1) 1 Melanoma(58;0.0286) CAAGTAGCTCCATCTGATGTT 0.383 Homologous_recombination 8 188 --- --- --- --- PASS MCHR1 2847 broad.mit.edu 37 22 41077580 41077580 + Missense_Mutation SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:41077580C>T uc003ayz.2 + 2 1185 c.917C>T c.(916-918)TCC>TTC p.S306F MCHR1_uc003aza.2_Missense_Mutation_p.S195F|uc003azb.1_RNA NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 306 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 CGCATGACGTCCTCAGTGGCC 0.602 7 51 --- --- --- --- PASS CRELD2 79174 broad.mit.edu 37 22 50318061 50318061 + Nonsense_Mutation SNP G T T rs113168785 byFrequency TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:50318061G>T uc003bja.2 + 8 961 c.826G>T c.(826-828)GAG>TAG p.E276* CRELD2_uc010haj.2_Nonsense_Mutation_p.E276*|CRELD2_uc010hal.2_Nonsense_Mutation_p.E325*|CRELD2_uc010hak.2_Nonsense_Mutation_p.E248*|CRELD2_uc010ham.2_Intron NM_024324 NP_077300 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 isoform b 276 FU 2. endoplasmic reticulum|extracellular region calcium ion binding 0 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) AAACTGTAAAGAGTGTATCTC 0.602 4 13 --- --- --- --- PASS SELO 83642 broad.mit.edu 37 22 50649059 50649059 + Splice_Site SNP G T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:50649059G>T uc011arr.1 + 5 1129 c.1071_splice c.e5-1 p.R357_splice SELO_uc010hap.2_Splice_Site_p.R168_splice|SELO_uc003bjy.2_Splice_Site_p.R37_splice|SELO_uc003bjz.2_Splice_Site_p.R37_splice NM_031454 NP_113642 Q9BVL4 SELO_HUMAN selenoprotein O 0 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CCGTGTGGCAGGTACGACCCC 0.672 OREG0026676 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 19 --- --- --- --- PASS MAPK8IP2 23542 broad.mit.edu 37 22 51040245 51040245 + Silent SNP A G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:51040245A>G uc003bmx.2 + 2 210 c.93A>G c.(91-93)GAA>GAG p.E31E MAPK8IP2_uc003bmy.2_5'Flank NM_012324 NP_036456 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting 31 Asp/Glu-rich (acidic). behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding large_intestine(2)|central_nervous_system(1) 3 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCTGGAAGAATTTGACGACG 0.587 4 76 --- --- --- --- PASS STS 412 broad.mit.edu 37 X 7268042 7268042 + Missense_Mutation SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:7268042G>A uc004cry.3 + 10 1737 c.1492G>A c.(1492-1494)GAC>AAC p.D498N NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 498 Lumenal. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CACCCATCACGACCCACCTTT 0.493 Ichthyosis 15 19 --- --- --- --- PASS TLR7 51284 broad.mit.edu 37 X 12905841 12905841 + Silent SNP G A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:12905841G>A uc004cvc.2 + 3 2353 c.2214G>A c.(2212-2214)CTG>CTA p.L738L NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 738 LRR 25.|Extracellular (Potential). L -> P (in Ref. 2; AAF78035). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) TCAGGAGTCTGACGAAGTATT 0.423 20 50 --- --- --- --- PASS TXLNG 55787 broad.mit.edu 37 X 16846272 16846272 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:16846272C>A uc004cxq.1 + 4 605 c.554C>A c.(553-555)GCC>GAC p.A185D TXLNG_uc010ney.1_Missense_Mutation_p.A53D NM_018360 NP_060830 Q9NUQ3 TXLNG_HUMAN gamma-taxilin 185 Potential. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane lung(1) 1 AAGAAGCAAGCCCAGATTGTG 0.418 21 42 --- --- --- --- PASS KLF8 11279 broad.mit.edu 37 X 56295866 56295866 + Missense_Mutation SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:56295866G>C uc004dur.2 + 4 1648 c.702G>C c.(700-702)GAG>GAC p.E234D KLF8_uc010nkg.2_3'UTR|KLF8_uc011mop.1_Missense_Mutation_p.E234D|KLF8_uc010nkh.2_RNA NM_007250 NP_009181 O95600 KLF8_HUMAN Kruppel-like factor 8 isoform 1 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ACAGTGAGGAGAGTACAATTG 0.433 8 15 --- --- --- --- PASS ZXDA 7789 broad.mit.edu 37 X 57935671 57935671 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:57935671C>A uc004dve.2 - 1 1397 c.1184G>T c.(1183-1185)GGC>GTC p.G395V NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 395 C2H2-type 5.|Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CTTCTTGCAGCCAGAAAACGC 0.572 16 32 --- --- --- --- PASS AWAT2 158835 broad.mit.edu 37 X 69262236 69262236 + Silent SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:69262236C>A uc004dxt.1 - 6 654 c.648G>T c.(646-648)GGG>GGT p.G216G NM_001002254 NP_001002254 Q6E213 AWAT2_HUMAN wax synthase 2 216 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity 0 TTAGAGGCACCCTGCAGAGCA 0.542 4 27 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76763844 76763844 + Missense_Mutation SNP T A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:76763844T>A uc004ecp.3 - 35 7696 c.7464A>T c.(7462-7464)CAA>CAT p.Q2488H ATRX_uc004ecq.3_Missense_Mutation_p.Q2450H|ATRX_uc004eco.3_Missense_Mutation_p.Q2273H NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 2488 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTGATTTCCCTTGGGAAGGTC 0.398 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 31 62 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79936891 79936891 + Missense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:79936891C>A uc004edt.2 - 40 4866 c.4603G>T c.(4603-4605)GAC>TAC p.D1535Y BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edp.2_Missense_Mutation_p.D1364Y|BRWD3_uc004edq.2_Missense_Mutation_p.D1131Y|BRWD3_uc010nmj.1_Missense_Mutation_p.D1131Y|BRWD3_uc004edr.2_Missense_Mutation_p.D1205Y|BRWD3_uc004eds.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edu.2_Missense_Mutation_p.D1205Y|BRWD3_uc004edv.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edw.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edx.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edy.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edz.2_Missense_Mutation_p.D1205Y|BRWD3_uc004eea.2_Missense_Mutation_p.D1205Y|BRWD3_uc004eeb.2_Missense_Mutation_p.D1131Y NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1535 ovary(4) 4 TTCCCTGGGTCATGGCTATTT 0.393 24 60 --- --- --- --- PASS BEX1 55859 broad.mit.edu 37 X 102317936 102317936 + Silent SNP C T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:102317936C>T uc004ejt.1 - 3 507 c.267G>A c.(265-267)GTG>GTA p.V89V NM_018476 NP_060946 Q9HBH7 BEX1_HUMAN brain expressed, X-linked 1 89 cell differentiation|nervous system development cytoplasm|nucleus ovary(1) 1 TCAGCTGTCTCACCTCCTCCC 0.512 33 73 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125686327 125686327 + Nonsense_Mutation SNP C A A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:125686327C>A uc004eul.2 - 1 516 c.265G>T c.(265-267)GAG>TAG p.E89* NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 89 skin(3)|ovary(1) 4 AGTTGGCGCTCCGTCAGCAGC 0.657 11 15 --- --- --- --- PASS MST4 51765 broad.mit.edu 37 X 131206864 131206864 + Silent SNP G C C TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:131206864G>C uc004ewk.1 + 10 1351 c.1050G>C c.(1048-1050)CTG>CTC p.L350L MST4_uc004ewl.1_Silent_p.L273L|MST4_uc011mux.1_Silent_p.L372L|MST4_uc010nrj.1_Intron|MST4_uc004ewm.1_Silent_p.L288L NM_016542 NP_057626 Q9P289 MST4_HUMAN serine/threonine protein kinase MST4 isoform 1 350 cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(192;0.000127) TGCAAACCCTGAGTTGTTTGT 0.284 15 40 --- --- --- --- PASS SLC6A8 6535 broad.mit.edu 37 X 152959701 152959701 + Missense_Mutation SNP C G G rs3179358 TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:152959701C>G uc004fib.3 + 9 1649 c.1371C>G c.(1369-1371)ATC>ATG p.I457M SLC6A8_uc004fic.3_Missense_Mutation_p.I447M|SLC6A8_uc011myx.1_Missense_Mutation_p.I342M|SLC6A8_uc010nuj.2_RNA NM_005629 NP_005620 P48029 SC6A8_HUMAN solute carrier family 6 member 8 isoform 1 457 Helical; (Potential). creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) GCTTTGTCATCGATCTCTCCA 0.617 39 59 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 5 8387811 8387811 + RNA DEL C - - TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr5:8387811delC uc003jeh.1 - 3 c.180delG Homo sapiens cDNA clone IMAGE:5297486. CTGCCTCCCACCAGGATGTAG 0.478 5 5 --- --- --- --- ZNF37B 100129482 broad.mit.edu 37 10 43012142 43012143 + RNA DEL CT - - rs56062397 TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr10:43012142_43012143delCT uc001jab.3 - 5 c.7057_7058delAG ZNF37B_uc001jac.3_RNA|ZNF37B_uc001jaa.3_RNA Homo sapiens cDNA: FLJ23327 fis, clone HEP12630, highly similar to HSZNF37 Homo sapiens ZNF37A mRNA for zinc finger protein. 0 TCTCCTCCCCCTGTCCCTTCCA 0.361 4 2 --- --- --- --- KRT16 3868 broad.mit.edu 37 17 39768931 39768932 + Frame_Shift_Ins INS - G G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:39768931_39768932insG uc002hxg.3 - 1 148_149 c.9_10insC c.(7-12)ACCTGCfs p.T3fs JUP_uc010wfs.1_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN keratin 16 3_4 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton skin(1) 1 Breast(137;0.000307) TGGCGGCTGCAGGTGGTCATGG 0.653 4 2 --- --- --- --- RNF126P1 376412 broad.mit.edu 37 17 55123867 55123868 + RNA INS - GACT GACT rs147162599 by1000genomes TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr17:55123867_55123868insGACT uc002iuw.2 + 1 c.1029_1030insGACT NR_002818 Homo sapiens ring finger protein 126 pseudogene 1, mRNA (cDNA clone IMAGE:5166840), with apparent retained intron. 0 GAAACCGCGGGGACTTTCCCAA 0.688 5 3 --- --- --- --- Unknown 0 broad.mit.edu 37 20 23169414 23169417 + RNA DEL TGTG - - TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr20:23169414_23169417delTGTG uc002wsw.1 + 1 c.817_820delTGTG Homo sapiens cDNA FLJ34446 fis, clone HLUNG2002050. tgtgcatttatgtgtgtgtggtgt 0.000 2 4 --- --- --- --- C20orf199 441951 broad.mit.edu 37 20 47897440 47897441 + RNA INS - T T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr20:47897440_47897441insT uc002xuj.2 + 4 c.412_413insT ZNFX1_uc002xui.2_5'Flank|C20orf199_uc002xul.3_RNA|C20orf199_uc002xun.3_Intron|C20orf199_uc002xum.3_Intron|C20orf199_uc002xuo.2_Intron NR_003605 Homo sapiens cDNA FLJ42181 fis, clone THYMU2031368. 0 CTTTCTATAGGTTGGGAGCCAC 0.436 4 4 --- --- --- --- PPM1F 9647 broad.mit.edu 37 22 22288587 22288587 + Frame_Shift_Del DEL G - - TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chr22:22288587delG uc002zvp.1 - 4 481 c.367delC c.(367-369)CAAfs p.Q123fs PPM1F_uc011aik.1_Frame_Shift_Del_p.Q19fs|PPM1F_uc002zvq.2_Frame_Shift_Del_p.Q123fs NM_014634 NP_055449 P49593 PPM1F_HUMAN protein phosphatase 1F 123 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(2)|large_intestine(1)|breast(1)|kidney(1) 5 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) GCCAGGCTTTGGGCATCCAGC 0.627 4 8 --- --- --- --- LOC92249 92249 broad.mit.edu 37 X 62648043 62648043 + RNA DEL A - - TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6c4bb09f-46c8-4a42-bf4f-8bad5316603d 901a8f87-7ff9-4ae7-add8-d20380fc31fa g.chrX:62648043delA uc004dvg.2 - 4 c.1282delT LOC92249_uc004dvh.2_RNA|LOC92249_uc004dvi.2_Intron NR_015353 Homo sapiens cDNA FLJ10894 fis, clone NT2RP4002888, highly similar to Homo sapiens mRNA; cDNA DKFZp434F172. 0 ATGATTTTGTAATTAGGGTGT 0.498 4 2 --- --- --- ---