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 pox qox isArtifactMode oxoGCut UBE4B 10277 broad.mit.edu 37 1 10239993 10239993 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:10239993G>A uc001aqs.3 + 28 4601 c.3888G>A c.(3886-3888)GAG>GAA p.E1296E UBE4B_uc001aqr.3_Silent_p.E1167E|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.E751E|UBE4B_uc001aqu.2_Silent_p.E177E NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 1296 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GGATGAGAGAGAAACAGAACA 0.552 NA 8 40 0 0 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561896 11561896 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:11561896G>A uc001ash.3 + 2 985 c.847G>A c.(847-849)GGC>AGC p.G283S PTCHD2_uc001asi.1_Missense_Mutation_p.G283S NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 283 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCTGGCGCGCGGCGACGCGGA 0.647 NA 5 20 0 0 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18023742 18023742 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:18023742G>T uc001ban.2 + 29 3866 c.3707G>T c.(3706-3708)TGC>TTC p.C1236F ARHGEF10L_uc001bao.2_Missense_Mutation_p.C1197F|ARHGEF10L_uc001bap.2_Missense_Mutation_p.C1192F|ARHGEF10L_uc001baq.2_Missense_Mutation_p.C997F|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.C1009F|ARHGEF10L_uc001bar.2_Missense_Mutation_p.C939F|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.C260F NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 1236 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AAGGAGATTTGCTCTGTGGCC 0.687 NA 13 31 7.04e-09 7.9e-09 1 0 KPNA6 23633 broad.mit.edu 37 1 32628883 32628883 + Missense_Mutation SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:32628883A>G uc001bug.2 + 10 1047 c.959A>G c.(958-960)AAC>AGC p.N320S KPNA6_uc001buh.2_Missense_Mutation_p.N95S|KPNA6_uc010ogx.1_Missense_Mutation_p.N317S|KPNA6_uc010ogy.1_Missense_Mutation_p.N325S|KPNA6_uc009vtz.2_Missense_Mutation_p.N215S NM_012316 NP_036448 O60684 IMA7_HUMAN karyopherin alpha 6 320 NLS binding site (minor) (By similarity).|ARM 6. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GCCGTGGGTAACATCGTCACT 0.542 NA 6 18 0 0 0 0 MAEL 84944 broad.mit.edu 37 1 166985521 166985521 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:166985521C>T uc001gdy.1 + 9 979 c.908C>T c.(907-909)GCG>GTG p.A303V MAEL_uc001gdz.1_Missense_Mutation_p.A272V|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 303 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 AAGAAGATTGCGTAAGTTGGG 0.368 NA 11 52 0 0 0 0 DUSP27 92235 broad.mit.edu 37 1 167095880 167095880 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:167095880G>A uc001geb.1 + 5 1512 c.1512G>A c.(1510-1512)GCG>GCA p.A504A NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 504 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GAGAGGAGGCGGCAGACAGGA 0.602 NA 11 29 0 0 0 0 RASAL2 9462 broad.mit.edu 37 1 178411963 178411963 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:178411963G>A uc001glr.2 + 6 762 c.637G>A c.(637-639)GGC>AGC p.G213S RASAL2_uc001glq.2_Missense_Mutation_p.G361S NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 213 C2. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 TATTTTCTGGGGCGAACATTT 0.388 NA 16 84 0 0 0 0 CYB5R1 51706 broad.mit.edu 37 1 202935050 202935050 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:202935050C>T uc001gyt.2 - 4 381 c.310G>A c.(310-312)GAT>AAT p.D104N CYB5R1_uc010pqe.1_RNA NM_016243 NP_057327 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 104 FAD-binding FR-type. sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.141) TGATCCTCATCACTGGTGACA 0.507 NA 6 26 0 0 0 0 GALNT2 2590 broad.mit.edu 37 1 230381875 230381875 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:230381875G>A uc010pwa.1 + 8 868 c.796G>A c.(796-798)GCA>ACA p.A266T GALNT2_uc010pvy.1_Missense_Mutation_p.A228T|GALNT2_uc010pvz.1_RNA NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 266 Lumenal (Potential). immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GTATGTGGGGGCATCTGCTGA 0.493 NA 9 45 0 0 0 0 CELF2 10659 broad.mit.edu 37 10 11370983 11370983 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr10:11370983G>A uc001iki.3 + 13 1586 c.1494G>A c.(1492-1494)CTG>CTA p.L498L CELF2_uc010qbj.1_Silent_p.L504L|CELF2_uc001ikk.2_Silent_p.L523L|CELF2_uc001ikl.3_Silent_p.L511L|CELF2_uc010qbl.1_Silent_p.L474L|CELF2_uc010qbm.1_Silent_p.L270L|CELF2_uc001iko.3_Silent_p.L478L|CELF2_uc001ikp.3_Silent_p.L480L|CELF2_uc010qbn.1_Silent_p.L486L|CELF2_uc010qbo.1_Silent_p.L393L|CELF2_uc010qbp.1_Silent_p.L270L NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 498 RRM 3.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 AGGTGCAGCTGAAGCGTTCCA 0.488 NA 12 59 0 0 0 0 SEC61A2 55176 broad.mit.edu 37 10 12191922 12191922 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr10:12191922G>A uc001ile.2 + 6 571 c.424G>A c.(424-426)GAA>AAA p.E142K SEC61A2_uc010qbq.1_Missense_Mutation_p.E120K|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Missense_Mutation_p.E142K NM_018144 NP_060614 Q9H9S3 S61A2_HUMAN Sec61 alpha form 2 isoform a 142 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 Renal(717;0.228) GGACCCTGCAGAAATGGGTGC 0.428 NA 15 60 0 0 0 0 HPS6 79803 broad.mit.edu 37 10 103826339 103826339 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr10:103826339G>A uc001kuj.2 + 1 1193 c.1108G>A c.(1108-1110)GAG>AAG p.E370K NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 370 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGAAGAGCTGGAGACCCGAGG 0.582 NA Hermansky-Pudlak_syndrome 12 47 0 0 0 0 SORCS3 22986 broad.mit.edu 37 10 106899230 106899230 + Missense_Mutation SNP T T C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr10:106899230T>C uc001kyi.1 + 8 1515 c.1288T>C c.(1288-1290)TAC>CAC p.Y430H NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 430 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCTGCCTAAGTACTCGTTGCC 0.512 NA 14 53 0 0 0 0 SIRT3 23410 broad.mit.edu 37 11 219014 219014 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr11:219014C>T uc001lok.3 - 6 1031 c.997G>A c.(997-999)GCC>ACC p.A333T SIRT3_uc001loj.3_Missense_Mutation_p.A191T|SIRT3_uc010qvm.1_Missense_Mutation_p.A269T|SIRT3_uc010qvn.1_Missense_Mutation_p.A252T|SIRT3_uc010qvo.1_Missense_Mutation_p.A333T|SIRT3_uc010qvp.1_Missense_Mutation_p.A279T|SIRT3_uc010qvq.1_Missense_Mutation_p.A191T NM_012239 NP_036371 Q9NTG7 SIRT3_HUMAN sirtuin 3 isoform a 333 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding urinary_tract(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) CTCCGCACGGCCTCGGTCAAG 0.612 NA 8 13 0 0 0 0 ACSM4 341392 broad.mit.edu 37 12 7469847 7469847 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:7469847C>T uc001qsx.1 + 4 735 c.735C>T c.(733-735)AGC>AGT p.S245S NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 245 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 CTCAGAGCAGCCTCGGCATTG 0.393 NA 4 4 0 0 0 0 CLEC9A 283420 broad.mit.edu 37 12 10213747 10213747 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:10213747C>T uc001qxa.2 + 6 807 c.194C>T c.(193-195)GCG>GTG p.A65V NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 65 Extracellular (Potential). positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 TCCACCATTGCGATGCAGCAG 0.403 NA 5 16 0 0 0 0 KRT79 338785 broad.mit.edu 37 12 53217762 53217762 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:53217762C>T uc001sbb.2 - 6 1088 c.1055G>A c.(1054-1056)GGG>GAG p.G352E KRT79_uc001sba.2_Missense_Mutation_p.G123E NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 352 Rod.|Coil 2. keratin filament structural molecule activity ovary(2)|skin(2) 4 CAGGTTGTCCCCATGCTTCCC 0.612 NA 10 33 0 0 0 0 OR6C4 341418 broad.mit.edu 37 12 55945682 55945682 + Silent SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:55945682G>T uc010spp.1 + 1 672 c.672G>T c.(670-672)CTG>CTT p.L224L NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGACTATTCTGAGGATCCCTT 0.468 NA 13 64 4.37e-10 4.93e-10 1 0 OAS2 4939 broad.mit.edu 37 12 113444282 113444282 + Silent SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:113444282A>G uc001tuj.2 + 8 1673 c.1533A>G c.(1531-1533)AAA>AAG p.K511K OAS2_uc001tui.1_Silent_p.K511K NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 511 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 ATCTGTATAAATCCTCGGACC 0.512 NA 26 69 0 0 0 0 RIMBP2 23504 broad.mit.edu 37 12 130892282 130892282 + Missense_Mutation SNP C C T rs142858015 byFrequency TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:130892282C>T uc001uil.2 - 16 3078 c.2914G>A c.(2914-2916)GTC>ATC p.V972I NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 972 SH3 3. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCGACATCGACGTTGGGCGAG 0.567 NA 52 186 0 0 0 0 C14orf174 161394 broad.mit.edu 37 14 77844099 77844099 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr14:77844099G>A uc001xtq.1 + 1 338 c.338G>A c.(337-339)AGA>AAA p.R113K TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 113 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) GAAACATCCAGAGAGATGGGA 0.493 NA 19 125 0 0 0 0 ACSBG1 23205 broad.mit.edu 37 15 78526821 78526821 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr15:78526821C>T uc002bdh.2 - 1 79 c.23G>A c.(22-24)GGA>GAA p.G8E ACSBG1_uc010umw.1_Missense_Mutation_p.G8E|ACSBG1_uc010umx.1_5'UTR|ACSBG1_uc010umy.1_5'UTR NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 8 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 GCAGCCGTATCCAGCTCCAGA 0.597 NA 38 195 0 0 0 0 AGBL1 123624 broad.mit.edu 37 15 87531246 87531246 + Missense_Mutation SNP C C G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr15:87531246C>G uc002blz.1 + 23 3192 c.3112C>G c.(3112-3114)CAT>GAT p.H1038D NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 1038 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 cctgccaaagcatatttggtt 0 NA 43 104 0 0 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100657103 100657103 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr15:100657103C>T uc002bvv.1 - 13 1916 c.1837G>A c.(1837-1839)GAC>AAC p.D613N ADAMTS17_uc002bvx.1_Missense_Mutation_p.D370N NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 613 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CTCAGCCGGTCGTGTGCCTGG 0.627 NA 22 38 0 0 0 0 PDXDC1 23042 broad.mit.edu 37 16 15128328 15128328 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr16:15128328G>A uc002dda.3 + 21 2144 c.1920G>A c.(1918-1920)CAG>CAA p.Q640Q PDXDC1_uc010uzl.1_Silent_p.Q625Q|PDXDC1_uc010uzm.1_Silent_p.Q549Q|PDXDC1_uc002ddb.3_Silent_p.Q613Q|PDXDC1_uc010uzn.1_Silent_p.Q612Q|PDXDC1_uc002ddc.2_Intron NM_015027 NP_055842 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain 640 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) TGTTGCGGCAGATCCCTGTAG 0.602 NA 30 105 0 0 0 0 TAOK2 9344 broad.mit.edu 37 16 29994159 29994159 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr16:29994159G>A uc002dva.1 + 11 1719 c.936G>A c.(934-936)ATG>ATA p.M312I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.M312I|TAOK2_uc002dvc.1_Missense_Mutation_p.M312I|TAOK2_uc010bzm.1_Missense_Mutation_p.M312I|TAOK2_uc002dvd.1_Missense_Mutation_p.M139I NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 312 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 ACCGCAAGATGAAGAAGATCC 0.607 NA 20 61 0 0 0 0 THAP11 57215 broad.mit.edu 37 16 67876720 67876720 + Missense_Mutation SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr16:67876720G>C uc002euo.2 + 1 508 c.263G>C c.(262-264)CGC>CCC p.R88P CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) GTCAATGAGCGCAAAGTAGCG 0.408 NA 7 17 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579374 7579374 + Missense_Mutation SNP C C A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr17:7579374C>A uc002gim.2 - 4 507 c.313G>T c.(313-315)GGC>TGC p.G105C TP53_uc002gig.1_Missense_Mutation_p.G105C|TP53_uc002gih.2_Missense_Mutation_p.G105C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.G105C|TP53_uc010cni.1_Missense_Mutation_p.G105C|TP53_uc002gij.2_Missense_Mutation_p.G105C|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.G66C|TP53_uc010cnk.1_Missense_Mutation_p.G120C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 105 Interaction with HIPK1 (By similarity).||Interaction with WWOX. G -> D (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.G105C(5)|p.G105fs*18(3)|p.G59fs*23(3)|p.G105R(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105S(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G105G(1)|p.G105D(1)|p.Y103_L111>L(1)|p.Y103fs*15(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGTAGCTGCCCTGGTAGGTT 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 38 3.99e-17 4.57e-17 1 0 RAI1 10743 broad.mit.edu 37 17 17696924 17696924 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr17:17696924C>T uc002grm.2 + 3 1131 c.662C>T c.(661-663)ACC>ATC p.T221I RAI1_uc002grn.1_Missense_Mutation_p.T221I NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 221 Gln-rich. cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) ACCTCCTCCACCTACTCCTCC 0.627 NA 36 68 0 0 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43472974 43472974 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr17:43472974G>A uc002iix.2 - 17 1944 c.1495C>T c.(1495-1497)CGC>TGC p.R499C ARHGAP27_uc010dak.2_Missense_Mutation_p.R472C NM_199282 NP_954976 Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 isoform a 840 Rho-GAP. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding 0 Renal(3;0.0405) ACCGACATGCGGTTCTGCTCG 0.667 NA 3 9 0 0 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14782606 14782606 + Missense_Mutation SNP A A C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr18:14782606A>C uc010dlo.2 + 12 1743 c.1563A>C c.(1561-1563)GAA>GAC p.E521D ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 521 ovary(1)|skin(1) 2 TAAATAGAGAAGTAGAAGGTA 0.313 NA 6 13 0 0 0 0 LAMA3 3909 broad.mit.edu 37 18 21444832 21444832 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr18:21444832G>A uc002kuq.2 + 36 4754 c.4668G>A c.(4666-4668)CCG>CCA p.P1556P LAMA3_uc002kur.2_Silent_p.P1556P NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1556 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAAGAAGCCGGATGTACAGC 0.448 NA 3 51 0 0 0 0 DSEL 92126 broad.mit.edu 37 18 65179933 65179933 + Missense_Mutation SNP T T A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr18:65179933T>A uc002lke.1 - 2 3167 c.1943A>T c.(1942-1944)GAT>GTT p.D648V NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 638 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) GCCATGATGATCAAACCAAAA 0.348 NA 12 44 0 0 0 0 CARM1 10498 broad.mit.edu 37 19 11018790 11018790 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr19:11018790C>T uc002mpz.2 + 3 548 c.422C>T c.(421-423)ACG>ATG p.T141M CARM1_uc010dxn.2_RNA NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 141 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 AGCGAGCGGACGGAGGAGTCT 0.637 NA 15 77 0 0 0 0 KANK2 25959 broad.mit.edu 37 19 11280802 11280802 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr19:11280802G>A uc010dxv.2 - 13 2892 c.2334C>T c.(2332-2334)TGC>TGT p.C778C KANK2_uc002mqm.2_Silent_p.C786C|KANK2_uc002mqo.3_Silent_p.C778C|KANK2_uc002mqp.1_Silent_p.C587C NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 778 ANK 4. 0 GCTCACAGGCGCACATGAGGG 0.637 NA 15 44 0 0 0 0 PAF1 54623 broad.mit.edu 37 19 39879970 39879970 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr19:39879970G>A uc002old.2 - 6 588 c.413C>T c.(412-414)TCC>TTC p.S138F PAF1_uc002ole.1_Missense_Mutation_p.S128F|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 138 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GAACTCAGTGGAGATGTACTC 0.517 NA 11 53 0 0 0 0 KIR2DL3 3804 broad.mit.edu 37 19 55250985 55250985 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr19:55250985G>A uc002qgv.2 + 2 85 c.67G>A c.(67-69)GAG>AAG p.E23K KIR2DL3_uc002qgx.2_Missense_Mutation_p.E23K|KIR2DL3_uc002qgy.2_Missense_Mutation_p.E23K|KIR2DL3_uc010erw.1_Missense_Mutation_p.E23K|KIR2DL1_uc002qgz.1_5'UTR|KIR2DL3_uc002qha.1_5'Flank NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 23 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) CTGGCCACATGAGGGTGAGTC 0.542 NA 19 77 0 0 0 0 NLRP7 199713 broad.mit.edu 37 19 55450492 55450492 + Silent SNP C C G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr19:55450492C>G uc002qih.3 - 4 1771 c.1695G>C c.(1693-1695)GTG>GTC p.V565V NLRP7_uc002qig.3_Silent_p.V565V|NLRP7_uc002qii.3_Silent_p.V565V|NLRP7_uc010esk.2_Silent_p.V565V|NLRP7_uc010esl.2_Silent_p.V593V NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 565 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TCAGGTCGGTCACGGATAAGG 0.527 NA 21 39 0 0 0 0 NT5C1B 93034 broad.mit.edu 37 2 18757571 18757571 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr2:18757571C>T uc002rcz.2 - 9 1492 c.1388G>A c.(1387-1389)CGT>CAT p.R463H NT5C1B_uc002rcy.2_Missense_Mutation_p.R463H|NT5C1B_uc010exr.2_Missense_Mutation_p.R405H|NT5C1B_uc010yju.1_Missense_Mutation_p.R403H|NT5C1B_uc002rda.2_Missense_Mutation_p.R403H|NT5C1B_uc010yjv.1_Missense_Mutation_p.R480H|NT5C1B_uc010yjw.1_Missense_Mutation_p.R446H|NT5C1B_uc010exs.2_Missense_Mutation_p.R465H NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 463 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) AAAGGCTACACGGAGCTGAGT 0.443 NA 11 31 0 0 0 0 VWA3B 200403 broad.mit.edu 37 2 98914449 98914449 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr2:98914449C>T uc002syo.2 + 24 3501 c.3237C>T c.(3235-3237)TCC>TCT p.S1079S VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.S736S|VWA3B_uc002syp.1_Silent_p.S471S|VWA3B_uc002syq.1_Silent_p.S355S|VWA3B_uc002syr.1_Silent_p.S396S|VWA3B_uc002sys.2_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1079 ovary(3)|large_intestine(2)|skin(1) 6 TGTCCACCTCCTTCATCACGC 0.577 NA 9 59 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141806672 141806672 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr2:141806672G>T uc002tvj.1 - 11 2644 c.1672C>A c.(1672-1674)CCT>ACT p.P558T LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 558 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) AAAGCACGAGGGTTTACCAGA 0.438 NA TSP Lung(27;0.18) 31 116 1.62e-16 1.84e-16 1 0 FIGN 55137 broad.mit.edu 37 2 164467771 164467771 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr2:164467771C>T uc002uck.1 - 3 882 c.571G>A c.(571-573)GGA>AGA p.G191R NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 191 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 AAATATGATCCGTTGTATCCT 0.507 NA 6 39 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202131394 202131394 + Missense_Mutation SNP T T C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr2:202131394T>C uc002uxr.1 + 3 394 c.185T>C c.(184-186)CTG>CCG p.L62P CASP8_uc010ftc.1_Missense_Mutation_p.L62P|CASP8_uc002uxo.1_Missense_Mutation_p.L62P|CASP8_uc002uxp.1_Missense_Mutation_p.L62P|CASP8_uc002uxq.1_Missense_Mutation_p.L62P|CASP8_uc002uxs.1_Missense_Mutation_p.L62P|CASP8_uc002uxt.1_Missense_Mutation_p.L121P|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.L62P|CASP8_uc002uxw.1_Missense_Mutation_p.L62P|CASP8_uc002uxy.1_Missense_Mutation_p.L62P|CASP8_uc002uxx.1_Missense_Mutation_p.L62P|CASP8_uc010ftf.2_Missense_Mutation_p.L62P NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 62 DED 1. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 CTGTCCTTCCTGAAGGAGCTG 0.453 NA HNSCC(4;0.00038) 6 23 0 0 0 0 NFATC2 4773 broad.mit.edu 37 20 50140118 50140118 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr20:50140118G>A uc002xwd.2 - 2 882 c.662C>T c.(661-663)TCA>TTA p.S221L NFATC2_uc002xwc.2_Missense_Mutation_p.S221L|NFATC2_uc010zyv.1_Missense_Mutation_p.S2L|NFATC2_uc010zyw.1_Missense_Mutation_p.S2L|NFATC2_uc010zyx.1_Missense_Mutation_p.S201L|NFATC2_uc010zyy.1_Missense_Mutation_p.S2L|NFATC2_uc010zyz.1_Missense_Mutation_p.S2L|NFATC2_uc002xwe.2_Missense_Mutation_p.S201L NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 221 3 X approximate SP repeats.|2. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GGTTCGAGGTGACATTATTGG 0.652 NA 20 71 0 0 0 0 KRTAP6-3 337968 broad.mit.edu 37 21 31965096 31965096 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr21:31965096G>A uc002yom.2 + 1 338 c.332G>A c.(331-333)TGA>TAA p.*111* NM_181605 NP_853636 keratin associated protein 6-3 0 TACTACTATTGAGGACACCAT 0.443 NA 3 11 0 0 0 0 CECR1 51816 broad.mit.edu 37 22 17669265 17669265 + Missense_Mutation SNP C C T rs74317375 byFrequency TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr22:17669265C>T uc002zmk.1 - 6 1257 c.1045G>A c.(1045-1047)GTT>ATT p.V349I CECR1_uc010gqu.1_Missense_Mutation_p.V349I|CECR1_uc011agi.1_Missense_Mutation_p.V307I|CECR1_uc002zmj.1_Missense_Mutation_p.V108I NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 349 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GGCAGCTTAACGCCATCCTTG 0.607 NA 3 51 0 0 0 0 ERC2 26059 broad.mit.edu 37 3 56044571 56044571 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr3:56044571C>T uc003dhr.1 - 9 2082 c.1826G>A c.(1825-1827)CGG>CAG p.R609Q ERC2_uc003dht.1_Missense_Mutation_p.R80Q NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 609 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TAGTCTTTCCCGATCATCTCT 0.413 NA 13 49 0 0 0 0 TIPARP 25976 broad.mit.edu 37 3 156396202 156396202 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr3:156396202G>A uc003fav.2 + 2 964 c.716G>A c.(715-717)GGA>GAA p.G239E LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Missense_Mutation_p.G239E NM_015508 NP_056323 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 239 C3H1-type. NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|breast(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CAAGAGAACGGAATTGAAATT 0.458 NA 22 127 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126371855 126371855 + Silent SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr4:126371855G>C uc003ifj.3 + 9 9684 c.9684G>C c.(9682-9684)GTG>GTC p.V3228V FAT4_uc011cgp.1_Silent_p.V1526V|FAT4_uc003ifi.1_Silent_p.V706V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3228 Cadherin 31.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CAAATGCTGTGATTGCGTATA 0.428 NA 9 50 0 0 0 0 LRBA 987 broad.mit.edu 37 4 151842388 151842388 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr4:151842388G>A uc010ipj.2 - 5 1081 c.607C>T c.(607-609)CCT>TCT p.P203S LRBA_uc003ilu.3_Missense_Mutation_p.P203S|LRBA_uc010ipk.1_Missense_Mutation_p.P122S NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 203 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) AAGGCATCAGGACCATACTTC 0.383 NA 25 52 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187549812 187549812 + Nonsense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr4:187549812G>A uc003izf.2 - 8 4617 c.4429C>T c.(4429-4431)CAA>TAA p.Q1477* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1477 Extracellular (Potential).|Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GCACTGATTTGCAAAATTTCT 0.393 NA HNSCC(5;0.00058) 9 27 0 0 0 0 TRIO 7204 broad.mit.edu 37 5 14488246 14488246 + Silent SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:14488246G>C uc003jff.2 + 48 7515 c.7509G>C c.(7507-7509)CCG>CCC p.P2503P TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Silent_p.P2152P NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2503 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TCACCTTCCCGGGGGACAGCG 0.721 NA 4 15 0 0 0 0 GPBP1 65056 broad.mit.edu 37 5 56546884 56546884 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:56546884C>T uc003jrh.3 + 10 2350 c.1076C>T c.(1075-1077)GCC>GTC p.A359V GPBP1_uc010iwg.2_Missense_Mutation_p.A379V|GPBP1_uc003jri.3_Missense_Mutation_p.A188V|GPBP1_uc003jrj.3_Missense_Mutation_p.A351V|GPBP1_uc003jrk.3_Missense_Mutation_p.A366V|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) AATGGCAATGCCTCAGTGATT 0.393 NA 19 37 0 0 0 0 RASA1 5921 broad.mit.edu 37 5 86681171 86681171 + Nonsense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:86681171C>T uc003kiw.2 + 22 2930 c.2812C>T c.(2812-2814)CAG>TAG p.Q938* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.Q761*|RASA1_uc011ctv.1_Nonsense_Mutation_p.Q771*|RASA1_uc011ctw.1_Nonsense_Mutation_p.Q772*|RASA1_uc010jaw.2_Nonsense_Mutation_p.Q760* NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 938 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TAAATCTGTGCAGAACTTAGC 0.353 NA 4 24 0 0 0 0 AFF4 27125 broad.mit.edu 37 5 132269973 132269973 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:132269973C>T uc003kyd.2 - 3 1192 c.784G>A c.(784-786)GGA>AGA p.G262R AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.G262R|AFF4_uc003kyf.3_Missense_Mutation_p.G262R NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 262 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACTCCTGTCCGTCCATGGGC 0.512 NA 15 61 0 0 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475797 140475797 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:140475797G>A uc003lil.2 + 1 1561 c.1423G>A c.(1423-1425)GTC>ATC p.V475I PCDHB2_uc003lim.1_Missense_Mutation_p.V136I NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 475 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATCGGCAGCGTCAGCGCCAC 0.667 NA 34 117 0 0 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476357 140476357 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:140476357C>T uc003lil.2 + 1 2121 c.1983C>T c.(1981-1983)CAC>CAT p.H661H PCDHB2_uc003lim.1_Silent_p.H322H NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 661 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGCTGCACGTGCTCCTGG 0.711 NA 5 58 0 0 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595724 140595724 + Missense_Mutation SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:140595724G>C uc003lja.1 + 1 2216 c.2029G>C c.(2029-2031)GCC>CCC p.A677P NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 677 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCGGAGGCGGCCCCGACCCA 0.682 NA 36 114 0 0 0 0 ODZ2 57451 broad.mit.edu 37 5 167673804 167673804 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:167673804G>A uc010jjd.2 + 27 5833 c.5833G>A c.(5833-5835)GAG>AAG p.E1945K ODZ2_uc003lzr.3_Missense_Mutation_p.E1715K|ODZ2_uc003lzt.3_Missense_Mutation_p.E1318K|ODZ2_uc010jje.2_Missense_Mutation_p.E1209K NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GTATATATTTGAGTATGACTC 0.512 NA 68 223 0 0 0 0 HIST1H4F 8361 broad.mit.edu 37 6 26240713 26240713 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr6:26240713C>T uc003nhe.1 + 1 60 c.60C>T c.(58-60)CGC>CGT p.R20R NM_003540 NP_003531 P62805 H4_HUMAN histone cluster 1, H4f 20 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) AGCGCCATCGCAAAGTGCTGC 0.537 NA 5 18 0 0 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834874 27834874 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr6:27834874G>T uc003njx.2 - 1 486 c.434C>A c.(433-435)GCT>GAT p.A145D NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 145 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 CGCCCCTGCAGCCTTCTTGGC 0.617 NA 41 192 9.85e-19 1.13e-18 1 0 TCTE1 202500 broad.mit.edu 37 6 44254022 44254022 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr6:44254022C>T uc003oxi.2 - 3 681 c.525G>A c.(523-525)GCG>GCA p.A175A SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 175 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CGAGGATCACCGCAGGGTCTG 0.652 NA 20 41 0 0 0 0 GRM8 2918 broad.mit.edu 37 7 126746580 126746580 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr7:126746580C>T uc003vlr.2 - 2 1008 c.697G>A c.(697-699)GAG>AAG p.E233K GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.E233K|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 233 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTGAAGGCCTCCACACCGCTC 0.498 NA HNSCC(24;0.065) 7 20 0 0 0 0 TNKS 8658 broad.mit.edu 37 8 9605599 9605599 + Silent SNP G G A rs35491087 byFrequency TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:9605599G>A uc003wss.2 + 18 2714 c.2709G>A c.(2707-2709)GCG>GCA p.A903A TNKS_uc011kww.1_Silent_p.A666A|TNKS_uc010lrt.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 903 ANK 15. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) ATAAGTGGGCGTTTACTCCCC 0.473 NA 8 31 0 0 0 0 HR 55806 broad.mit.edu 37 8 21976769 21976769 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:21976769C>T uc003xas.2 - 15 3670 c.3005G>A c.(3004-3006)GGG>GAG p.G1002E HR_uc003xat.2_Missense_Mutation_p.G1002E NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 1002 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GTTCTTGGTCCCCAGGTGTCC 0.502 NA 6 34 0 0 0 0 ADAM28 10863 broad.mit.edu 37 8 24209561 24209561 + Missense_Mutation SNP C C G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:24209561C>G uc003xdy.2 + 21 2323 c.2240C>G c.(2239-2241)TCT>TGT p.S747C ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.S434C NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 747 Cytoplasmic (Potential). proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CCCCCAGCCTCTTTTGTGAGT 0.408 NA 9 58 0 0 0 0 RBM12B 389677 broad.mit.edu 37 8 94746535 94746535 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:94746535G>A uc003yfz.2 - 3 2297 c.2104C>T c.(2104-2106)CCC>TCC p.P702S NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 702 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TCCTCTGGGGGCCGCCTGAAG 0.642 NA 34 124 0 0 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141591 133141591 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:133141591G>A uc003ytj.2 - 15 2762 c.2537C>T c.(2536-2538)ACG>ATG p.T846M KCNQ3_uc010mdt.2_Missense_Mutation_p.T834M|uc003yti.2_5'Flank NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 846 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GCCGCTGGGCGTGAAGGGGTC 0.572 NA 8 34 0 0 0 0 OPLAH 26873 broad.mit.edu 37 8 145107418 145107418 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:145107418G>A uc003zar.3 - 23 3319 c.3237C>T c.(3235-3237)AAC>AAT p.N1079N NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 1079 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) ACGTGAGCACGTTGCCGCCCA 0.771 NA 3 7 0 0 0 0 DOCK8 81704 broad.mit.edu 37 9 382632 382632 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:382632G>A uc003zgf.2 + 22 2837 c.2725G>A c.(2725-2727)GCG>ACG p.A909T DOCK8_uc010mgu.2_Missense_Mutation_p.A211T|DOCK8_uc010mgv.2_Missense_Mutation_p.A841T|DOCK8_uc010mgw.1_Missense_Mutation_p.A211T|DOCK8_uc003zgk.2_Missense_Mutation_p.A367T NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 909 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CCCAGACCTCGCGGGGACACA 0.542 NA 7 30 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C C T rs121913389 TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:21971028C>T uc003zpk.2 - 2 542 c.330G>A c.(328-330)TGG>TGA p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 110 ANK 4. 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.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(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) GCAGACGGCCCCAGGCATCGC 0.736 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) 10 17 0 0 0 0 CCDC107 203260 broad.mit.edu 37 9 35658653 35658653 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:35658653G>A uc011lox.1 + 2 253 c.187G>A c.(187-189)GCC>ACC p.A63T RMRP_uc003zxh.1_5'Flank|CCDC107_uc010mkx.1_Missense_Mutation_p.A63T|CCDC107_uc011loy.1_Missense_Mutation_p.A63T|CCDC107_uc003zxj.2_Missense_Mutation_p.A63T|CCDC107_uc003zxk.2_Missense_Mutation_p.A63T NM_174923 NP_777583 Q8WV48 CC107_HUMAN coiled-coil domain containing 107 precursor 63 integral to membrane 0 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCGGACCCGGGCCGGGTCGCT 0.716 NA 8 13 0 0 0 0 ZNF189 7743 broad.mit.edu 37 9 104170879 104170879 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:104170879G>A uc004bbh.1 + 3 1105 c.829G>A c.(829-831)GAG>AAG p.E277K ZNF189_uc004bbg.1_Missense_Mutation_p.E235K|ZNF189_uc004bbi.1_Missense_Mutation_p.E263K|ZNF189_uc011lvk.1_Missense_Mutation_p.E262K NM_003452 NP_003443 O75820 ZN189_HUMAN zinc finger protein 189 isoform 1 277 C2H2-type 5. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(62;0.0559) ACACCTTATTGAGCATCAAAG 0.393 NA 55 106 0 0 0 0 PSMB7 5695 broad.mit.edu 37 9 127177670 127177670 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:127177670C>T uc004boj.2 - 1 52 c.35G>A c.(34-36)GGA>GAA p.G12E PSMB7_uc010mwm.2_Missense_Mutation_p.G12E NM_002799 NP_002790 Q99436 PSB7_HUMAN proteasome beta 7 subunit proprotein 12 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 0 AGAGAAGCCTCCAACTGGTGG 0.607 NA OREG0019476 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 13 0 0 0 0 NHS 4810 broad.mit.edu 37 X 17744146 17744146 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chrX:17744146G>A uc004cxx.2 + 6 2195 c.1857G>A c.(1855-1857)ACG>ACA p.T619T NHS_uc011mix.1_Silent_p.T640T|NHS_uc004cxy.2_Silent_p.T463T|NHS_uc004cxz.2_Silent_p.T442T|NHS_uc004cya.2_Silent_p.T342T NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 619 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) GCAGCTCCACGTGCCCCTCGC 0.582 NA 26 100 0 0 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524270 73524270 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chrX:73524270G>T uc004ebs.3 + 1 246 c.169G>T c.(169-171)GCT>TCT p.A57S NM_203303 NP_976048 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 57 CCHC-type 2; degenerate. nucleic acid binding|zinc ion binding 0 CGGTCGTAATGCTAAGAACTG 0.527 NA 6 27 0.00116845 0.00124669 1 0 RNF128 79589 broad.mit.edu 37 X 105937342 105937342 + Missense_Mutation SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chrX:105937342A>G uc004emk.2 + 1 275 c.110A>G c.(109-111)TAC>TGC p.Y37C NM_024539 NP_078815 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 GTGACTTATTACAATGAAACC 0.388 NA 24 90 0 0 0 0 AFF2 2334 broad.mit.edu 37 X 148055022 148055022 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chrX:148055022G>A uc004fcp.2 + 16 3768 c.3289G>A c.(3289-3291)GTG>ATG p.V1097M AFF2_uc004fcq.2_Missense_Mutation_p.V1087M|AFF2_uc004fcr.2_Missense_Mutation_p.V1058M|AFF2_uc011mxb.1_Missense_Mutation_p.V1062M|AFF2_uc004fcs.2_Missense_Mutation_p.V1062M|AFF2_uc011mxc.1_Missense_Mutation_p.V738M NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1097 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TGGCAAAGCTGTGAATTATGC 0.408 NA 25 85 0 0 0 0 APOLD1 81575 broad.mit.edu 37 12 12940351 12940353 + In_Frame_Del DEL TCT TCT - TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:12940351_12940353delTCT uc001rau.3 + 2 689_691 c.605_607delTCT c.(604-609)GTCTTC>GTC p.F204del DDX47_uc001rav.2_Intron|APOLD1_uc001raw.3_In_Frame_Del_p.F173del NM_001130415 NP_001123887 Q96LR9 APLD1_HUMAN apolipoprotein L domain containing 1 isoform 1 204 Helical; (Potential). angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding ovary(1) 1 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) TACTTCATCGTCTTCTTTGGCTC 0.616 NA 45 129 --- --- --- --- NA NA NA NA MORC4 79710 broad.mit.edu 37 X 106228467 106228468 + Frame_Shift_Ins INS - - T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chrX:106228467_106228468insT uc004emu.3 - 5 775_776 c.532_533insA c.(532-534)ATGfs p.M178fs MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Frame_Shift_Ins_p.M178fs|MORC4_uc004emw.3_Intron NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 178 ATP binding|zinc ion binding ovary(1) 1 GGTAATAATCATTTTTTGTAAA 0.361 NA 15 54 --- --- --- --- NA NA NA NA