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 CCNL2 81669 broad.mit.edu 37 1 1330804 1330804 + Silent SNP A A C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr1:1330804A>C uc001afi.2 - 4 596 c.564T>G c.(562-564)GGT>GGG p.G188G CCNL2_uc001aff.1_5'Flank|CCNL2_uc001afg.1_5'UTR|CCNL2_uc001afh.2_Silent_p.G188G|CCNL2_uc001afj.2_Silent_p.G188G|CCNL2_uc001afk.2_Silent_p.G188G NM_030937 NP_112199 Q96S94 CCNL2_HUMAN cyclin L2 isoform A 188 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GGACGCAGAAACCCAACTCTT 0.537000 CELA2A 63036 broad.mit.edu 37 1 15789355 15789355 + Missense_Mutation SNP G G T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr1:15789355G>T uc001awk.2 + 4 381 c.355G>T c.(355-357)GGG>TGG p.G119W NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 119 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 AATCTCCAAAGGGTTCGTTTC 0.577000 MAP7D1 55700 broad.mit.edu 37 1 36642154 36642154 + Missense_Mutation SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr1:36642154C>T uc001bzz.2 + 7 1421 c.1205C>T c.(1204-1206)CCG>CTG p.P402L MAP7D1_uc001caa.2_Missense_Mutation_p.P370L|MAP7D1_uc001cab.2_Missense_Mutation_p.P365L|MAP7D1_uc001cac.2_Missense_Mutation_p.P102L|MAP7D1_uc001cad.2_5'Flank NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 402 cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) AGCCCCGCTCCGGTGCGCCGC 0.781000 MRPS15 64960 broad.mit.edu 37 1 36929865 36929865 + Silent SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr1:36929865G>A uc001cas.2 - 1 176 c.12C>T c.(10-12)GTC>GTT p.V4V NM_031280 NP_112570 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 precursor 4 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCCTCCACGCGACCCTCAGCA 0.542000 OMA1 115209 broad.mit.edu 37 1 59004914 59004914 + Missense_Mutation SNP C C G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr1:59004914C>G uc001cyy.2 - 2 141 c.53G>C c.(52-54)CGA>CCA p.R18P DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.R18P|OMA1_uc009vzz.2_Missense_Mutation_p.R18P NM_145243 NP_660286 Q96E52 OMA1_HUMAN OMA1 homolog, zinc metallopeptidase precursor 18 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity large_intestine(1) 1 all_cancers(7;6.54e-05) TGAATTAAATCGGAAGAAAAC 0.358000 HRNR 388697 broad.mit.edu 37 1 152192120 152192120 + Missense_Mutation SNP C C T rs146400284 byFrequency TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr1:152192120C>T uc001ezt.1 - 3 2061 c.1985G>A c.(1984-1986)CGC>CAC p.R662H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 662 6. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGTCGGCCGCGACTAGGAGA 0.587000 IGSF9 57549 broad.mit.edu 37 1 159901336 159901336 + Nonsense_Mutation SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr1:159901336G>A uc001fur.2 - 12 1618 c.1420C>T c.(1420-1422)CGA>TGA p.R474* IGSF9_uc001fuq.2_Nonsense_Mutation_p.R458*|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 474 Ig-like 5.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GTCAATGGTCGCAGGATGAGG 0.647000 KIAA1462 57608 broad.mit.edu 37 10 30336633 30336633 + Missense_Mutation SNP T T C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr10:30336633T>C uc001iux.2 - 1 168 c.109A>G c.(109-111)ACA>GCA p.T37A KIAA1462_uc001iuy.2_Missense_Mutation_p.T37A|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.T37A NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 37 ovary(4) 4 CCTGCTCGTGTCCCAGTCCTC 0.617000 SLIT1 6585 broad.mit.edu 37 10 98778863 98778863 + Silent SNP A A G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr10:98778863A>G uc001kmw.2 - 27 3000 c.2748T>C c.(2746-2748)GGT>GGC p.G916G NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 916 LRRCT 4. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GCGTTGGAGGACCTGCAGCAA 0.632000 ATRNL1 26033 broad.mit.edu 37 10 117040941 117040941 + Missense_Mutation SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr10:117040941C>T uc001lcg.2 + 14 2563 c.2177C>T c.(2176-2178)TCA>TTA p.S726L NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 726 PSI 3.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AAAAGCTGTTCACTAAACTTG 0.358000 HBD 3045 broad.mit.edu 37 11 5254304 5254304 + Missense_Mutation SNP C C A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr11:5254304C>A uc001maf.1 - 3 529 c.334G>T c.(334-336)GTG>TTG p.V112L NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 112 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCACACACACCAGCACATTG 0.522000 C11orf49 79096 broad.mit.edu 37 11 46958381 46958381 + Silent SNP C C T rs142532345 byFrequency TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr11:46958381C>T uc001ndp.2 + 1 131 c.25C>T c.(25-27)CTA>TTA p.L9L C11orf49_uc001nds.2_Silent_p.L9L|C11orf49_uc001ndq.2_Silent_p.L9L|C11orf49_uc001ndr.2_Silent_p.L9L|C11orf49_uc010rgx.1_5'UTR|C11orf49_uc010rgy.1_Missense_Mutation_p.P34L|C11orf49_uc010rgz.1_5'UTR NM_024113 NP_077018 Q9H6J7 CK049_HUMAN hypothetical protein LOC79096 isoform 3 9 0 GCGCCTAGCCCTACCGGACTA 0.617000 OR6M1 390261 broad.mit.edu 37 11 123676616 123676616 + Missense_Mutation SNP C C G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr11:123676616C>G uc010rzz.1 - 1 442 c.442G>C c.(442-444)GTG>CTG p.V148L NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) AAGGCTCCCACCCAGCATCCC 0.502000 AKAP3 10566 broad.mit.edu 37 12 4747358 4747358 + Missense_Mutation SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr12:4747358G>A uc001qnb.3 - 3 234 c.5C>T c.(4-6)TCA>TTA p.S2L NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 2 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 AACCTTTTCTGACATCTGGAA 0.428000 CLEC9A 283420 broad.mit.edu 37 12 10217429 10217429 + Missense_Mutation SNP T T G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr12:10217429T>G uc001qxa.2 + 8 1183 c.570T>G c.(568-570)GAT>GAG p.D190E NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 190 Extracellular (Potential).|C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 TTTGGCAAGATGGCTCCTCTC 0.448000 PDE3A 5139 broad.mit.edu 37 12 20522996 20522996 + Missense_Mutation SNP C C A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr12:20522996C>A uc001reh.1 + 1 800 c.778C>A c.(778-780)CCG>ACG p.P260T NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 260 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) ACAAATCTTGCCGCAGTCCGC 0.597000 KRT8 3856 broad.mit.edu 37 12 53292550 53292550 + Missense_Mutation SNP C C A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr12:53292550C>A uc001sbd.2 - 6 1218 c.1115G>T c.(1114-1116)CGT>CTT p.R372L KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.R400L|KRT8_uc009zml.1_Missense_Mutation_p.R372L|KRT8_uc009zmm.1_Missense_Mutation_p.R372L NM_002273 NP_002264 P05787 K2C8_HUMAN keratin 8 372 Necessary for interaction with PNN.|Rod.|Coil 2. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGGTACTCACGCAGCTGCCG 0.642000 CEP290 80184 broad.mit.edu 37 12 88478386 88478386 + Missense_Mutation SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr12:88478386G>A uc001tar.2 - 35 5025 c.4681C>T c.(4681-4683)CGT>TGT p.R1561C CEP290_uc001taq.2_Missense_Mutation_p.R621C NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1561 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 TCTAGAAGACGTTGATACTTC 0.299000 CUX2 23316 broad.mit.edu 37 12 111758322 111758322 + Missense_Mutation SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr12:111758322G>A uc001tsa.1 + 17 2662 c.2509G>A c.(2509-2511)GAG>AAG p.E837K NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 837 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CCCCGAGGACGAGGCGGCGGC 0.776000 CIT 11113 broad.mit.edu 37 12 120166313 120166313 + Silent SNP C C G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr12:120166313C>G uc001txi.1 - 27 3512 c.3459G>C c.(3457-3459)CTG>CTC p.L1153L CIT_uc001txh.1_Silent_p.L687L|CIT_uc001txj.1_Silent_p.L1195L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1153 Potential.|Interaction with Rho/Rac. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCACCTCTTCCAGAAGCCTCT 0.353000 TDRD3 81550 broad.mit.edu 37 13 61103082 61103082 + Nonsense_Mutation SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr13:61103082C>T uc001via.2 + 11 2232 c.1444C>T c.(1444-1446)CAG>TAG p.Q482* TDRD3_uc010aef.2_Nonsense_Mutation_p.Q307*|TDRD3_uc001vhz.3_Nonsense_Mutation_p.Q482*|TDRD3_uc010aeg.2_Nonsense_Mutation_p.Q575*|TDRD3_uc001vib.3_Nonsense_Mutation_p.Q481* NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 482 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) TACTGATTATCAGAATCCAGT 0.323000 SLITRK6 84189 broad.mit.edu 37 13 86369349 86369349 + Missense_Mutation SNP A A C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr13:86369349A>C uc001vll.1 - 2 1754 c.1295T>G c.(1294-1296)CTT>CGT p.L432R SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 432 Extracellular (Potential).|LRR 8. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATGGAGACCAAGGAACATGCC 0.343000 FAM155A 728215 broad.mit.edu 37 13 108518657 108518657 + Silent SNP C C G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr13:108518657C>G uc001vql.2 - 1 804 c.288G>C c.(286-288)CGG>CGC p.R96R NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 96 integral to membrane binding skin(1) 1 cctgctgccgccgctgctgct 0.413000 C14orf21 161424 broad.mit.edu 37 14 24771558 24771558 + Silent SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr14:24771558G>A uc001wol.1 + 5 1134 c.1071G>A c.(1069-1071)CAG>CAA p.Q357Q C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank NM_174913 NP_777573 Q86U38 CN021_HUMAN hypothetical protein LOC161424 357 Pumilio 4. RNA binding breast(2)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(265;0.0185) GGCAGCTGCAGACCCTGGCTG 0.522000 C14orf106 55320 broad.mit.edu 37 14 45705143 45705143 + Missense_Mutation SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr14:45705143C>T uc001wwf.2 - 6 1681 c.1222G>A c.(1222-1224)GTC>ATC p.V408I C14orf106_uc010anh.2_RNA NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 408 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 ATGTTAGTGACGTCTCTAGGA 0.299000 NEO1 4756 broad.mit.edu 37 15 73528822 73528822 + Missense_Mutation SNP T T C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr15:73528822T>C uc002avm.3 + 8 1568 c.1426T>C c.(1426-1428)TTC>CTC p.F476L NEO1_uc010ukx.1_Missense_Mutation_p.F476L|NEO1_uc010uky.1_Missense_Mutation_p.F476L|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.F141L NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 476 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 CTACTCTGTGTTCTACACCAA 0.557000 DHX8 1659 broad.mit.edu 37 17 41584527 41584527 + Missense_Mutation SNP A A G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr17:41584527A>G uc002idu.1 + 13 1958 c.1885A>G c.(1885-1887)AGA>GGA p.R629G DHX8_uc010wif.1_Missense_Mutation_p.R538G|DHX8_uc010wig.1_Missense_Mutation_p.R629G NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 629 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GGTGGCCAAAAGAGTGTCAGA 0.517000 SCN4A 6329 broad.mit.edu 37 17 62025364 62025364 + Silent SNP G G T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr17:62025364G>T uc002jds.1 - 17 3281 c.3204C>A c.(3202-3204)GCC>GCA p.A1068A NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1068 III.|Helical; Name=S2 of repeat III; (Potential). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) AGACCTTGTCGGCATATTCTA 0.567000 DLGAP1 9229 broad.mit.edu 37 18 3581872 3581872 + Splice_Site SNP C C G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr18:3581872C>G uc002kmf.2 - 5 2032 c.1965_splice c.e5+1 p.Q655_splice DLGAP1_uc010wyz.1_Splice_Site_p.Q655_splice|DLGAP1_uc002kme.1_Splice_Site_p.Q353_splice|DLGAP1_uc010dkn.2_Splice_Site_p.Q363_splice|DLGAP1_uc010wyw.1_Splice_Site_p.Q361_splice|DLGAP1_uc010wyx.1_Splice_Site_p.Q377_splice|DLGAP1_uc010wyy.1_Splice_Site_p.Q339_splice|DLGAP1_uc002kmg.2_Splice_Site_p.Q353_splice NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GAGGCTGTTACCTGTATCCCG 0.333000 CCDC102B 79839 broad.mit.edu 37 18 66513583 66513583 + Silent SNP A A G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr18:66513583A>G uc002lkk.2 + 6 1084 c.861A>G c.(859-861)AGA>AGG p.R287R CCDC102B_uc002lki.2_Silent_p.R287R|CCDC102B_uc002lkj.1_Silent_p.R287R NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 287 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AAATAGAGAGACTGGAGTCGG 0.343000 UHRF1 29128 broad.mit.edu 37 19 4930857 4930857 + Missense_Mutation SNP G G C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr19:4930857G>C uc002mbo.2 + 4 706 c.538G>C c.(538-540)GAG>CAG p.E180Q UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.E193Q NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 180 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GGCGCTGGAGGAGGACGTCAT 0.652000 ZNF574 64763 broad.mit.edu 37 19 42584467 42584467 + Missense_Mutation SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr19:42584467G>A uc002osm.3 + 2 1878 c.1709G>A c.(1708-1710)CGC>CAC p.R570H ZNF574_uc002osk.3_Missense_Mutation_p.R660H NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 570 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) AGGCAGCACCGCTTGGTGCAT 0.627000 PSG7 5676 broad.mit.edu 37 19 43430856 43430856 + Missense_Mutation SNP T T A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr19:43430856T>A uc002ovl.3 - 5 824 c.722A>T c.(721-723)AAG>ATG p.K241M PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.K119M NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 241 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) GATGTAGGGCTTGGGCAGCTT 0.473000 ZNF701 55762 broad.mit.edu 37 19 53086109 53086109 + Missense_Mutation SNP G G T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr19:53086109G>T uc002pzs.1 + 4 924 c.797G>T c.(796-798)GGT>GTT p.G266V ZNF701_uc010ydn.1_Missense_Mutation_p.G332V NM_018260 NP_060730 Q9NV72 ZN701_HUMAN zinc finger protein 701 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) TGTCACACTGGTGAGAATCCT 0.418000 CNOT3 4849 broad.mit.edu 37 19 54647253 54647253 + Splice_Site SNP G G C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr19:54647253G>C uc002qdj.1 + 4 479 c.168_splice c.e4+1 p.Q56_splice CNOT3_uc010yel.1_Splice_Site_p.Q56_splice|CNOT3_uc002qdi.2_Splice_Site|CNOT3_uc002qdk.1_Splice_Site_p.Q56_splice|CNOT3_uc010ere.1_5'Flank NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAAGCTACAAGTGAGGGGGCT 0.338000 TRIM28 10155 broad.mit.edu 37 19 59060921 59060921 + Missense_Mutation SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr19:59060921G>A uc002qtg.1 + 13 2175 c.1886G>A c.(1885-1887)CGT>CAT p.R629H TRIM28_uc010eut.1_Missense_Mutation_p.R547H|TRIM28_uc002qth.1_Missense_Mutation_p.R244H NM_005762 NP_005753 Q13263 TIF1B_HUMAN tripartite motif-containing 28 protein 629 PHD-type. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) ACCATTTGCCGTGTCTGCCAG 0.612000 ZNF638 27332 broad.mit.edu 37 2 71650235 71650235 + Missense_Mutation SNP G G C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr2:71650235G>C uc002shx.2 + 22 3910 c.3591G>C c.(3589-3591)GAG>GAC p.E1197D ZNF638_uc010yqw.1_Missense_Mutation_p.E776D|ZNF638_uc002shy.2_Missense_Mutation_p.E1197D|ZNF638_uc002shz.2_Missense_Mutation_p.E1197D|ZNF638_uc002sia.2_Missense_Mutation_p.E1197D|ZNF638_uc002sib.1_Intron|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.E294D|ZNF638_uc002sid.2_Intron NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1197 Glu-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 ATGCCGAGGAGTGTGCTTTAA 0.408000 ZNF514 84874 broad.mit.edu 37 2 95815684 95815684 + Silent SNP A A G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr2:95815684A>G uc002sue.1 - 5 920 c.546T>C c.(544-546)GAT>GAC p.D182D ZNF514_uc002sud.1_Silent_p.D255D NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAATTCTGTATCACATTTAT 0.398000 MBD5 55777 broad.mit.edu 37 2 149247083 149247083 + Silent SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr2:149247083G>A uc002twm.3 + 12 4171 c.3183G>A c.(3181-3183)CCG>CCA p.P1061P MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.P1061P|MBD5_uc002two.2_Silent_p.P319P|MBD5_uc002twp.2_Silent_p.P111P NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1061 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) AGTTGCAACCGAGGATTGACC 0.483000 PARD3B 117583 broad.mit.edu 37 2 206480274 206480274 + Missense_Mutation SNP A A G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr2:206480274A>G uc002var.1 + 23 3562 c.3355A>G c.(3355-3357)ATG>GTG p.M1119V PARD3B_uc002vao.1_Missense_Mutation_p.M1018V|PARD3B_uc002vap.1_Missense_Mutation_p.M1057V|PARD3B_uc002vaq.1_Missense_Mutation_p.M1050V|uc010fuc.1_5'Flank NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 1119 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGCTCATCCTATGCACCCTCC 0.612000 PRKAG3 53632 broad.mit.edu 37 2 219694947 219694947 + Silent SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr2:219694947G>A uc002vjb.1 - 4 406 c.387C>T c.(385-387)AGC>AGT p.S129S PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Silent_p.S129S|PRKAG3_uc010zko.1_Silent_p.S125S NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 129 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATCATCTGTGCTGGAGCCTG 0.642000 SIRPB1 10326 broad.mit.edu 37 20 1551635 1551635 + Silent SNP G G T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr20:1551635G>T uc010gai.2 - 4 999 c.900C>A c.(898-900)ACC>ACA p.T300T SIRPB1_uc002wfk.3_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 300 Ig-like C1-type 2.|Extracellular (Potential). cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 TCTCTATGAGGGTCGAAGCTG 0.562000 RALGAPA2 57186 broad.mit.edu 37 20 20453517 20453517 + Silent SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr20:20453517G>A uc002wrz.2 - 37 5594 c.5451C>T c.(5449-5451)AAC>AAT p.N1817N RALGAPA2_uc010gcx.2_Silent_p.N1521N|RALGAPA2_uc010zsg.1_Silent_p.N1265N|RALGAPA2_uc002wsa.1_Silent_p.N589N NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1817 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CCCTGCTGGCGTTGATGCACG 0.468000 BCAS1 8537 broad.mit.edu 37 20 52583568 52583568 + Silent SNP T T A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr20:52583568T>A uc002xws.2 - 9 1565 c.1227A>T c.(1225-1227)GTA>GTT p.V409V BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Silent_p.V357V|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Silent_p.V395V|BCAS1_uc010gil.1_Intron NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 409 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) AGGCTGATTCTACTTCCTTGG 0.418000 TFAP2C 7022 broad.mit.edu 37 20 55208570 55208570 + Nonsense_Mutation SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr20:55208570C>T uc002xya.2 + 4 991 c.748C>T c.(748-750)CGA>TGA p.R250* TFAP2C_uc010zzi.1_Nonsense_Mutation_p.R81* NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 250 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) AGTACAGAGGCGACTGTCCCC 0.502000 DSCAM 1826 broad.mit.edu 37 21 41414474 41414474 + Missense_Mutation SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr21:41414474C>T uc002yyq.1 - 32 5962 c.5510G>A c.(5509-5511)TGC>TAC p.C1837Y DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1837 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGATATGAAGCACTCCGTGAT 0.552000 BCL2L13 23786 broad.mit.edu 37 22 18210043 18210043 + Missense_Mutation SNP G G A rs139164101 byFrequency TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr22:18210043G>A uc002zmw.2 + 7 1419 c.1201G>A c.(1201-1203)GCA>ACA p.A401T BCL2L13_uc002zmx.2_Missense_Mutation_p.A239T|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.A239T|BCL2L13_uc011agk.1_Missense_Mutation_p.A277T|BCL2L13_uc010gqz.2_Missense_Mutation_p.A121T|BCL2L13_uc002zmz.2_Missense_Mutation_p.A239T|BCL2L13_uc002zna.2_Missense_Mutation_p.A121T NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 401 Glu-rich. induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) GGTGGTCCCCGCACTGGAACC 0.522000 CCDC71 64925 broad.mit.edu 37 3 49200840 49200840 + Missense_Mutation SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr3:49200840G>A uc003cwg.3 - 2 940 c.802C>T c.(802-804)CGG>TGG p.R268W NM_022903 NP_075054 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 268 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TTCATTCGCCGGACACTGGGG 0.647000 FILIP1L 11259 broad.mit.edu 37 3 99568539 99568539 + Nonsense_Mutation SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr3:99568539G>A uc003dtm.2 - 5 2444 c.1981C>T c.(1981-1983)CGA>TGA p.R661* C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Nonsense_Mutation_p.R661*|FILIP1L_uc010hpf.2_Nonsense_Mutation_p.R237*|FILIP1L_uc010hpg.2_Nonsense_Mutation_p.R421*|FILIP1L_uc003dtn.2_Nonsense_Mutation_p.R421*|FILIP1L_uc003dtp.1_Nonsense_Mutation_p.R421* NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 661 Potential. cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 GCATACCTTCGTTCTAGAGTC 0.373000 CEP97 79598 broad.mit.edu 37 3 101451439 101451439 + Silent SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr3:101451439C>T uc003dvk.1 + 6 696 c.669C>T c.(667-669)ATC>ATT p.I223I CEP97_uc010hpm.1_Silent_p.I189I|CEP97_uc011bhf.1_Silent_p.I223I|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Silent_p.I61I NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 223 LRRCT. centrosome|nucleus protein binding ovary(2) 2 GGCCGTACATCGTCAGCTGGT 0.418000 UMPS 7372 broad.mit.edu 37 3 124462864 124462864 + Missense_Mutation SNP G G A rs142909683 TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr3:124462864G>A uc003ehl.3 + 6 1482 c.1376G>A c.(1375-1377)CGT>CAT p.R459H UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.R281H|UMPS_uc011bkb.1_Missense_Mutation_p.R367H|UMPS_uc011bkc.1_Missense_Mutation_p.R281H|UMPS_uc003ehn.3_Missense_Mutation_p.R281H|UMPS_uc011bkd.1_Missense_Mutation_p.R184H NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 459 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) GCAGCTGATCGTCTGGAAGCA 0.428000 IGSF10 285313 broad.mit.edu 37 3 151163813 151163813 + Missense_Mutation SNP G G C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr3:151163813G>C uc011bod.1 - 4 3956 c.3956C>G c.(3955-3957)CCA>CGA p.P1319R NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1319 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGTTGTTGCTGGTATTGCTGT 0.423000 HRASLS 57110 broad.mit.edu 37 3 192988433 192988433 + Missense_Mutation SNP C C A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr3:192988433C>A uc003fta.2 + 4 851 c.446C>A c.(445-447)GCT>GAT p.A149D NM_020386 NP_065119 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 149 0 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) GTGACAGCTGCTGTTGGTGTC 0.373000 ARHGAP24 83478 broad.mit.edu 37 4 86916641 86916641 + Missense_Mutation SNP G G C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr4:86916641G>C uc003hpk.2 + 9 2283 c.1834G>C c.(1834-1836)GAC>CAC p.D612H ARHGAP24_uc003hpl.2_Missense_Mutation_p.D517H|ARHGAP24_uc010ikf.2_Missense_Mutation_p.D527H|ARHGAP24_uc003hpm.2_Missense_Mutation_p.D519H NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 612 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AAGCAAAAGTGACCACAGGAG 0.552000 TTC29 83894 broad.mit.edu 37 4 147788681 147788681 + Nonsense_Mutation SNP A A C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr4:147788681A>C uc003ikw.3 - 8 1081 c.854T>G c.(853-855)TTA>TGA p.L285* TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Nonsense_Mutation_p.L311*|TTC29_uc010ipd.1_Nonsense_Mutation_p.L285* NM_031956 NP_114162 Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 285 TPR 3. binding 0 all_hematologic(180;0.151) CTCAGCAGCTAAGTGTGCTAA 0.294000 GPR98 84059 broad.mit.edu 37 5 90004691 90004691 + Missense_Mutation SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr5:90004691C>T uc003kju.2 + 39 8885 c.8789C>T c.(8788-8790)ACC>ATC p.T2930I GPR98_uc003kjt.2_Missense_Mutation_p.T636I|GPR98_uc003kjv.2_Missense_Mutation_p.T530I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2930 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTTGGACTTACCATGGCTGCT 0.348000 EPB41L4A 64097 broad.mit.edu 37 5 111754701 111754701 + Nonsense_Mutation SNP G G T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr5:111754701G>T uc003kpv.1 - 1 310 c.36C>A c.(34-36)TAC>TAA p.Y12* EPB41L4A_uc003kpw.1_Nonsense_Mutation_p.Y12*|FLJ11235_uc003kpx.1_5'Flank NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 12 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AAACTTCGCAGTAAAATTCTT 0.612000 KIF20A 10112 broad.mit.edu 37 5 137521329 137521329 + Silent SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr5:137521329C>T uc003lcj.2 + 16 2551 c.2055C>T c.(2053-2055)TCC>TCT p.S685S KIF20A_uc011cyo.1_Silent_p.S667S NM_005733 NP_005724 O95235 KI20A_HUMAN kinesin family member 20A 685 Potential. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTTCTGCCTCCACCCAGCAGC 0.507000 PCDHGA10 56106 broad.mit.edu 37 5 140793840 140793840 + Silent SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr5:140793840G>A uc003lkl.1 + 1 1098 c.1098G>A c.(1096-1098)CTG>CTA p.L366L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.L366L NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 366 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCACCTCTGGGAACAGTCG 0.403000 FBXW11 23291 broad.mit.edu 37 5 171295748 171295748 + Missense_Mutation SNP C C A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr5:171295748C>A uc003mbm.1 - 12 1891 c.1520G>T c.(1519-1521)AGC>ATC p.S507I FBXW11_uc011dey.1_Missense_Mutation_p.S475I|FBXW11_uc003mbl.1_Missense_Mutation_p.S494I|FBXW11_uc003mbn.1_Missense_Mutation_p.S473I NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 isoform 507 WD 7. cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1)|breast(1) 2 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATGGGAGCTGCTGATGATCTG 0.423000 BAI3 577 broad.mit.edu 37 6 70042817 70042817 + Silent SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr6:70042817C>T uc003pev.3 + 24 3553 c.3105C>T c.(3103-3105)GTC>GTT p.V1035V BAI3_uc010kak.2_Silent_p.V1035V|BAI3_uc011dxx.1_Silent_p.V241V|BAI3_uc003pex.1_Silent_p.V165V NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1035 Helical; Name=5; (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) TTTGACAGGTCAACATGGTGA 0.383000 KCNQ5 56479 broad.mit.edu 37 6 73904416 73904416 + Missense_Mutation SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr6:73904416C>T uc003pgk.2 + 14 2425 c.2078C>T c.(2077-2079)ACG>ATG p.T693M KCNQ5_uc011dyh.1_Missense_Mutation_p.T712M|KCNQ5_uc011dyi.1_Missense_Mutation_p.T703M|KCNQ5_uc010kat.2_Missense_Mutation_p.T684M|KCNQ5_uc011dyj.1_Missense_Mutation_p.T583M|KCNQ5_uc011dyk.1_Missense_Mutation_p.T443M NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 693 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTCATTCTGACGCCAAATGAG 0.502000 PAPOLB 56903 broad.mit.edu 37 7 4901375 4901375 + Missense_Mutation SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr7:4901375C>T uc003snk.2 - 1 251 c.67G>A c.(67-69)GTC>ATC p.V23I RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 22 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) GGCGAGGAGACGCCGTAGCGA 0.662000 PHF14 9678 broad.mit.edu 37 7 11091378 11091378 + Missense_Mutation SNP G G C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr7:11091378G>C uc003sry.1 + 14 2887 c.2452G>C c.(2452-2454)GAA>CAA p.E818Q PHF14_uc011jxi.1_Missense_Mutation_p.E533Q|PHF14_uc003srz.2_Missense_Mutation_p.E818Q|PHF14_uc011jxj.1_Missense_Mutation_p.E533Q NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 818 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TGTGCCACCAGAACCCAAGAA 0.403000 CDK13 8621 broad.mit.edu 37 7 40132775 40132775 + Silent SNP A A C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr7:40132775A>C uc003thh.3 + 13 3909 c.3627A>C c.(3625-3627)GGA>GGC p.G1209G CDK13_uc003thi.3_Silent_p.G1149G|CDK13_uc003thj.2_Silent_p.G260G|CDK13_uc003thk.2_Silent_p.G142G NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1209 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 GGGAAAATGGATCGGGACATG 0.493000 TAF6 6878 broad.mit.edu 37 7 99709580 99709580 + Missense_Mutation SNP T T C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr7:99709580T>C uc003uti.2 - 8 844 c.763A>G c.(763-765)ATG>GTG p.M255V TAF6_uc003utg.2_Missense_Mutation_p.M177V|TAF6_uc003uth.2_Missense_Mutation_p.M312V|TAF6_uc003utk.2_Missense_Mutation_p.M255V|TAF6_uc011kji.1_Missense_Mutation_p.M292V|TAF6_uc003utj.2_Missense_Mutation_p.M245V|TAF6_uc003utl.2_Missense_Mutation_p.M255V|TAF6_uc003utm.2_Missense_Mutation_p.M255V|TAF6_uc003utn.1_RNA NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 255 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGTGGCAGCATCTGATACAGT 0.602000 KCNU1 157855 broad.mit.edu 37 8 36644891 36644891 + Missense_Mutation SNP G G C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr8:36644891G>C uc010lvw.2 + 2 350 c.263G>C c.(262-264)CGT>CCT p.R88P KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 88 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GGACAATTTCGTGATCATATA 0.423000 XKR4 114786 broad.mit.edu 37 8 56015173 56015173 + Missense_Mutation SNP C C T TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr8:56015173C>T uc003xsf.2 + 1 157 c.125C>T c.(124-126)TCG>TTG p.S42L NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 42 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) CCGTCGGGGTCGGGAGCCGAG 0.368000 OXR1 55074 broad.mit.edu 37 8 107691447 107691447 + Missense_Mutation SNP A A C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr8:107691447A>C uc011lht.1 + 3 332 c.233A>C c.(232-234)CAA>CCA p.Q78P OXR1_uc003ymf.2_Missense_Mutation_p.Q77P|OXR1_uc011lhu.1_Missense_Mutation_p.Q70P|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.Q10P|OXR1_uc003ymi.1_5'UTR NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 78 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) GACACTGGCCAAAAGAAGACC 0.368000 FLJ43860 389690 broad.mit.edu 37 8 142487931 142487931 + Missense_Mutation SNP T T G TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr8:142487931T>G uc003ywi.2 - 11 1391 c.1310A>C c.(1309-1311)GAG>GCG p.E437A FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 437 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GTGGGCGCCCTCACTCCGGCT 0.642000 PLEC 5339 broad.mit.edu 37 8 145009469 145009469 + Silent SNP G G A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr8:145009469G>A uc003zaf.1 - 7 1196 c.1026C>T c.(1024-1026)ATC>ATT p.I342I PLEC_uc003zab.1_Silent_p.I205I|PLEC_uc003zac.1_Silent_p.I209I|PLEC_uc003zad.2_Silent_p.I205I|PLEC_uc003zae.1_Silent_p.I173I|PLEC_uc003zag.1_Silent_p.I183I|PLEC_uc003zah.2_Silent_p.I191I|PLEC_uc003zaj.2_Silent_p.I232I NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 342 CH 2.|Globular 1.|Actin-binding. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGTTCATGTCGATGAGCAGGG 0.657000 OPLAH 26873 broad.mit.edu 37 8 145109753 145109753 + Missense_Mutation SNP C C T rs11777194 TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr8:145109753C>T uc003zar.3 - 18 2555 c.2473G>A c.(2473-2475)GGG>AGG p.G825R OPLAH_uc003zas.1_Missense_Mutation_p.G74R NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 825 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) TGGCTGCCCCCGGCACTGGGA 0.642000 NLGN4X 57502 broad.mit.edu 37 X 6069107 6069107 + Missense_Mutation SNP G G C TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chrX:6069107G>C uc010ndh.2 - 2 902 c.401C>G c.(400-402)ACT>AGT p.T134S NLGN4X_uc004crp.2_Missense_Mutation_p.T134S|NLGN4X_uc004crq.2_Missense_Mutation_p.T134S|NLGN4X_uc010ndi.2_Missense_Mutation_p.T134S|NLGN4X_uc004crr.2_Missense_Mutation_p.T134S|NLGN4X_uc010ndj.2_Missense_Mutation_p.T134S NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 134 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GGTCATCAAAGTATCCAAATT 0.453000 KLHL13 90293 broad.mit.edu 37 X 117032969 117032969 + Nonsense_Mutation SNP C C A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chrX:117032969C>A uc004eql.2 - 7 1932 c.1870G>T c.(1870-1872)GAA>TAA p.E624* KLHL13_uc004eqk.2_Nonsense_Mutation_p.E573*|KLHL13_uc011mtn.1_Nonsense_Mutation_p.E464*|KLHL13_uc011mto.1_Nonsense_Mutation_p.E618*|KLHL13_uc011mtp.1_Nonsense_Mutation_p.E626*|KLHL13_uc004eqm.2_Nonsense_Mutation_p.E573*|KLHL13_uc011mtq.1_Nonsense_Mutation_p.E608* NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 624 Kelch 6. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 CCAAGGGATTCTGGCAGATCA 0.438000 DOCK11 139818 broad.mit.edu 37 X 117796673 117796673 + Missense_Mutation SNP C C T rs146074785 TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chrX:117796673C>T uc004eqp.2 + 45 5057 c.4994C>T c.(4993-4995)GCG>GTG p.A1665V DOCK11_uc004eqq.2_Missense_Mutation_p.A1444V NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1665 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 GGATGTTCAGCGTTCAAGAAA 0.368000 ARID1A 8289 broad.mit.edu 37 1 27100120 27100123 + Frame_Shift_Del DEL CAGC CAGC - TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr1:27100120_27100123delCAGC uc001bmv.1 + 16 4289_4292 c.3916_3919delCAGC c.(3916-3921)CAGCCGfs p.Q1306fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q1305fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q1306fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q923fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Q152fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1306_1307 P -> S (in Ref. 1; AAG33967, 5; AAG17549 and 7; BAA23269). androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGGGGCCCCACAGCCGAATCTCAT 0.500 Mis|N|F|S|D clear cell ovarian carcinoma|RCC HBD 3045 broad.mit.edu 37 11 5254296 5254297 + Frame_Shift_Ins INS - - A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr11:5254296_5254297insA uc001maf.1 - 3 536_537 c.341_342insT c.(340-342)GTGfs p.V114fs NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 114 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCGGGCCAGCACACACACCAG 0.515 HIST1H1B 3009 broad.mit.edu 37 6 27834714 27834716 + In_Frame_Del DEL CGG CGG - TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr6:27834713_27834715TCGG>T uc003njx.3 - 0 645_647 c.593_595CCGA>A c.(592-597)ccgaag>cAag p.198_199PK>Q NM_005322 NP_005313 P16401 H15_HUMAN Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA. 198 nucleosome assembly nucleosome|nucleus DNA binding p.P198P(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 TTTGCCGCCTTCGGCTTAACTGC 0.562 HBD 3045 broad.mit.edu 37 11 5254297 5254298 + Frame_Shift_Ins INS - - A TCGA-BR-A4J1-01A-11D-A25D-08 TCGA-BR-A4J1-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d994319-688e-483d-8df3-0dcbfbaf836a 5bfcbe72-fd16-4bd2-9ae0-90dd16426ffb g.chr11:5254296_5254297C>CA uc001maf.1 - 2 536_537 c.341_342G>TG c.(340-342)gtgfs p.V114fs NM_000519 NP_000510 P02042 HBD_HUMAN Homo sapiens hemoglobin, delta (HBD), mRNA. 114 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCGGGCCAGCACACACACCAG 0.515