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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PRDM16 63976 broad.mit.edu 37 1 3334507 3334507 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr1:3334507C>T uc001akf.2 + 11 2887 c.2807C>T c.(2806-2808)CCC>CTC p.P936L PRDM16_uc001akc.2_Missense_Mutation_p.P935L|PRDM16_uc001akd.2_Missense_Mutation_p.P935L|PRDM16_uc001ake.2_Missense_Mutation_p.P936L|PRDM16_uc009vlh.2_Missense_Mutation_p.P636L NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 936 Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CGGTCCCCACCCCCAACGCTC 0.657 NaN T EVI1 MDS|AML 0 0 0 0.021523 0 21 36 NBPF1 55672 broad.mit.edu 37 1 16907273 16907273 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr1:16907273C>T uc009vos.1 - 16 2446 c.1558G>A c.(1558-1560)GAT>AAT p.D520N NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.D249N NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 520 NBPF 2. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGACATTCATCATGAGAGGAT 0.463 NaN 0 0 0 0.01441 0 82 652 OSCP1 127700 broad.mit.edu 37 1 36904449 36904449 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr1:36904449G>C uc001cap.2 - 3 287 c.205C>G c.(205-207)CAA>GAA p.Q69E OSCP1_uc001caq.2_Missense_Mutation_p.Q59E|OSCP1_uc001car.2_Missense_Mutation_p.Q59E NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN oxidored-nitro domain-containing protein isoform 69 transport basal plasma membrane ovary(2)|central_nervous_system(1)|pancreas(1) 4 TAGAGCTCTTGAGGCTTGAAT 0.468 NaN 0 0 0 0.020292 0 15 50 DISP1 84976 broad.mit.edu 37 1 223178660 223178660 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr1:223178660G>C uc001hnu.1 + 8 4068 c.3921G>C c.(3919-3921)CAG>CAC p.Q1307H NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1307 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) GCTTTGTCCAGATCCAAAACG 0.577 NaN 0 0 0 0.012319 0 18 87 TTC18 118491 broad.mit.edu 37 10 75051185 75051185 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr10:75051185G>C uc009xrc.2 - 20 2369 c.2248C>G c.(2248-2250)CAA>GAA p.Q750E TTC18_uc001jty.2_Missense_Mutation_p.Q750E|TTC18_uc001jtv.3_5'UTR|TTC18_uc001jtw.3_5'UTR|TTC18_uc001jtx.2_Missense_Mutation_p.Q131E NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 750 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) TCATTGTTTTGAATTTCATAG 0.363 NaN 0 0 0 0.006214 0 9 61 VDAC2 7417 broad.mit.edu 37 10 76980680 76980680 + Missense_Mutation SNP A A C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr10:76980680A>C uc001jwz.2 + 7 695 c.536A>C c.(535-537)AAC>ACC p.N179T VDAC2_uc010qld.1_Missense_Mutation_p.N140T|VDAC2_uc001jxa.2_Missense_Mutation_p.N194T|VDAC2_uc010qle.1_Missense_Mutation_p.N140T NM_003375 NP_003366 P45880 VDAC2_HUMAN voltage-dependent anion channel 2 179 Beta stranded; (By similarity). mitochondrial nucleoid|mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) Dihydroxyaluminium(DB01375) ACAAGGAATAACTTTGCAGTG 0.473 NaN 0 0 0 0.008291 0 11 55 IDE 3416 broad.mit.edu 37 10 94269887 94269887 + Missense_Mutation SNP T T G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr10:94269887T>G uc001kia.2 - 6 893 c.817A>C c.(817-819)AAG>CAG p.K273Q NM_004969 NP_004960 P14735 IDE_HUMAN insulin-degrading enzyme isoform 1 precursor 273 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding p.K273Q(1) ovary(2)|central_nervous_system(1) 3 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAAAATAACTTTACCACCAGA 0.343 NaN 0 0 0 0.004656 0 24 84 CYP2C9 1559 broad.mit.edu 37 10 96707610 96707610 + Missense_Mutation SNP C C T rs150435881 TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr10:96707610C>T uc001kka.3 + 4 581 c.556C>T c.(556-558)CGT>TGT p.R186C CYP2C9_uc009xut.2_Missense_Mutation_p.R186C NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 186 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TTTCCATAAACGTTTTGATTA 0.373 NaN 0 0 0 0.010729 0 11 45 C10orf90 118611 broad.mit.edu 37 10 128193175 128193175 + Silent SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr10:128193175G>A uc001ljq.2 - 3 715 c.594C>T c.(592-594)TTC>TTT p.F198F C10orf90_uc001ljp.2_Silent_p.F151F|C10orf90_uc010qum.1_Silent_p.F295F|C10orf90_uc009yao.2_Silent_p.F295F|C10orf90_uc001ljs.1_Silent_p.F151F NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 198 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TGTTTCTGGAGAACTCTGTGC 0.602 NaN OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014323 0 23 123 USP47 55031 broad.mit.edu 37 11 11954622 11954622 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr11:11954622C>G uc001mjq.1 + 16 2546 c.1783C>G c.(1783-1785)CAA>GAA p.Q595E USP47_uc001mjr.2_Missense_Mutation_p.Q507E|USP47_uc001mjs.2_Missense_Mutation_p.Q575E NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 595 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) GTTGGAAGAACAAGAAAAGAG 0.338 NaN 0 0 0 0.004672 0 2 10 MRGPRX2 117194 broad.mit.edu 37 11 19077796 19077796 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr11:19077796G>A uc001mph.2 - 2 242 c.154C>T c.(154-156)CTC>TTC p.L52F NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 52 Helical; Name=1; (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 AGGAGCCAGAGCACAAACCCG 0.572 NaN 0 0 0 0.007291 0 30 131 MS4A8B 83661 broad.mit.edu 37 11 60468502 60468502 + Missense_Mutation SNP G G A rs148191741 byFrequency TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr11:60468502G>A uc001npv.2 + 2 372 c.169G>A c.(169-171)GTG>ATG p.V57M MS4A8B_uc009yne.1_Missense_Mutation_p.V57M NM_031457 NP_113645 Q9BY19 M4A8B_HUMAN membrane-spanning 4-domains, subfamily A, member 57 Cytoplasmic (Potential). integral to membrane receptor activity 0 GGTGTCGAATGTGAATGGGCA 0.532 NaN 0 0 0 0.010729 0 11 58 SART1 9092 broad.mit.edu 37 11 65729273 65729273 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr11:65729273C>G uc001ogl.2 + 1 114 c.22C>G c.(22-24)CGC>GGC p.R8G SART1_uc009yqy.1_Missense_Mutation_p.R8G|SART1_uc010rot.1_Translation_Start_Site NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 8 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 CAAGAAGCATCGCGGAGAGAA 0.348 NaN 0 0 0 0.004482 0 8 15 BBS1 582 broad.mit.edu 37 11 66282016 66282016 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr11:66282016G>A uc001oij.1 + 4 311 c.299G>A c.(298-300)CGG>CAG p.R100Q BBS1_uc001oii.1_Missense_Mutation_p.R137Q|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.R100Q|BBS1_uc001oik.1_Missense_Mutation_p.R24Q|BBS1_uc001oil.1_Missense_Mutation_p.R100Q NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Bardet-Biedl syndrome 1 100 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding ovary(1) 1 CATGAGCCCCGGACCCCAGCT 0.562 NaN Bardet-Biedl_syndrome 0 0 0 0.01441 0 50 205 GPR152 390212 broad.mit.edu 37 11 67219578 67219578 + Silent SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr11:67219578G>C uc001olm.2 - 1 623 c.618C>G c.(616-618)CTC>CTG p.L206L uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 206 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CGAGCAGCAGGAGGAAAGGCA 0.677 NaN 0 0 0 0.006214 0 9 45 OPCML 4978 broad.mit.edu 37 11 132527208 132527209 + Missense_Mutation DNP GG GG TT TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr11:132527208_132527209GG>TT uc001qgs.2 - 2 223_224 c.173_174CC>AA c.(172-174)ACC>AAA p.T58K OPCML_uc001qgu.2_Missense_Mutation_p.T51K|OPCML_uc010sck.1_Missense_Mutation_p.T58K|OPCML_uc001qgt.2_Missense_Mutation_p.T58K|OPCML_uc010scl.1_Missense_Mutation_p.T17K NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 58 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GGTCATCTATGGTACACCTGCA 0.515 NaN 0 0 0 0.004672 0 8 40 CD163 9332 broad.mit.edu 37 12 7635262 7635262 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr12:7635262C>T uc001qsz.3 - 14 3352 c.3224G>A c.(3223-3225)CGA>CAA p.R1075Q CD163_uc001qta.3_Missense_Mutation_p.R1075Q|CD163_uc009zfw.2_Missense_Mutation_p.R1108Q NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1075 Cytoplasmic (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TCTCTGTCTTCGCTTTTTAGT 0.433 NaN 0 0 0 0.010504 0 16 86 RIMKLB 57494 broad.mit.edu 37 12 8902643 8902643 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr12:8902643G>A uc001quu.2 + 3 612 c.361G>A c.(361-363)GAG>AAG p.E121K RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.E121K|RIMKLB_uc010sgl.1_Missense_Mutation_p.E121K|RIMKLB_uc001quw.2_Missense_Mutation_p.E121K NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 121 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 GACATTTCAAGAGTTGGCTGG 0.433 NaN 0 0 0 0.00308 0 7 66 FAM186B 84070 broad.mit.edu 37 12 49997129 49997129 + Missense_Mutation SNP A A G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr12:49997129A>G uc001ruo.2 - 3 517 c.344T>C c.(343-345)ATT>ACT p.I115T FAM186B_uc010smk.1_Missense_Mutation_p.I25T NM_032130 NP_115506 Q8IYM0 F186B_HUMAN hypothetical protein LOC84070 115 protein complex ovary(1) 1 CCTGGGCCCAATCTCATAGGT 0.557 NaN 0 0 0 0.008291 0 11 53 PIP4K2C 79837 broad.mit.edu 37 12 57992888 57992888 + Missense_Mutation SNP T T A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr12:57992888T>A uc001sou.2 + 5 685 c.554T>A c.(553-555)TTC>TAC p.F185Y PIP4K2C_uc001sot.2_Missense_Mutation_p.F185Y|PIP4K2C_uc010srs.1_Missense_Mutation_p.F167Y|PIP4K2C_uc010srt.1_Missense_Mutation_p.F137Y NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 185 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) CTGCCCCAGTTCCTGGGGATG 0.517 NaN 0 0 0 0.020292 0 14 80 CAMKK2 10645 broad.mit.edu 37 12 121693608 121693608 + Splice_Site SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr12:121693608C>T uc001tzu.2 - 8 921 c.797_splice c.e8-1 p.V266_splice CAMKK2_uc001tzt.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzv.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzw.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzx.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzy.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzz.1_Splice_Site_p.V53_splice|CAMKK2_uc001uaa.1_Splice_Site_p.V266_splice|CAMKK2_uc001uab.2_Splice_Site_p.V266_splice|CAMKK2_uc001uac.2_Splice_Site_p.V266_splice NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity lung(1)|large_intestine(1)|stomach(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGTTCGAACACTGTAGGGAAG 0.527 NaN 0 0 0 0.001984 0 6 30 KNTC1 9735 broad.mit.edu 37 12 123067479 123067479 + Silent SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr12:123067479G>C uc001ucv.2 + 34 3373 c.3210G>C c.(3208-3210)CTG>CTC p.L1070L KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1070 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) AGGCAGAGCTGACCTTGAGAG 0.488 NaN 0 0 0 0.004672 0 3 23 DNAH10 196385 broad.mit.edu 37 12 124416629 124416629 + Silent SNP C C A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr12:124416629C>A uc001uft.3 + 75 12941 c.12916C>A c.(12916-12918)CGG>AGG p.R4306R DNAH10_uc001ufu.3_Silent_p.R219R NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4306 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTACTTCCTGCGGCGGTTCAG 0.532 NaN 1 0 1.08611e-07 0.010729 1.16597e-07 12 71 MPHOSPH8 54737 broad.mit.edu 37 13 20224169 20224169 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr13:20224169G>C uc001umh.2 + 5 1354 c.1345G>C c.(1345-1347)GAT>CAT p.D449H MPHOSPH8_uc001umg.2_Missense_Mutation_p.D449H|MPHOSPH8_uc001umi.2_Missense_Mutation_p.D146H NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 449 cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) AAATGCATTTGATTTATTTAA 0.279 NaN 0 0 0 0.014758 0 5 30 FREM2 341640 broad.mit.edu 37 13 39266204 39266204 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr13:39266204G>A uc001uwv.2 + 1 5032 c.4723G>A c.(4723-4725)GTG>ATG p.V1575M NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1575 Extracellular (Potential).|CSPG 11. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TATCACCCAGGTGCCTATTCA 0.418 NaN 0 0 0 0.003163 0 16 103 KIAA0564 23078 broad.mit.edu 37 13 42442585 42442585 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr13:42442585G>C uc001uyj.2 - 10 1179 c.1109C>G c.(1108-1110)TCT>TGT p.S370C KIAA0564_uc001uyk.2_Missense_Mutation_p.S370C NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 370 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) AGGAAGTAGAGAGCTTCCTGA 0.368 NaN 0 0 0 0.008291 0 11 62 PCDH17 27253 broad.mit.edu 37 13 58208888 58208888 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr13:58208888G>C uc001vhq.1 + 1 3100 c.2208G>C c.(2206-2208)GAG>GAC p.E736D PCDH17_uc010aec.1_Missense_Mutation_p.E736D NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 736 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AGAACAAGGAGATCCGCACTT 0.552 NaN 0 0 0 0.001984 0 6 49 COMMD6 170622 broad.mit.edu 37 13 76104396 76104396 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr13:76104396C>G uc001vjo.1 - 3 111 c.61G>C c.(61-63)GAT>CAT p.D21H COMMD6_uc001vjn.1_Missense_Mutation_p.D21H|COMMD6_uc010aet.1_RNA|COMMD6_uc001vjp.1_Splice_Site NM_203495 NP_987091 Q7Z4G1 COMD6_HUMAN COMM domain containing 6 isoform b 21 COMM. cytoplasm|nucleus protein binding 0 Breast(118;0.0979)|Prostate(6;0.122) GBM - Glioblastoma multiforme(99;0.0104) CACTGAAAATCTACAAGCTTT 0.363 NaN 0 0 0 0.006214 0 10 67 FOS 2353 broad.mit.edu 37 14 75747297 75747297 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr14:75747297G>A uc001xrn.2 + 3 633 c.428G>A c.(427-429)CGA>CAA p.R143Q FOS_uc010tva.1_Intron|FOS_uc010asi.2_Missense_Mutation_p.R29Q|FOS_uc001xro.2_5'UTR NM_005252 NP_005243 P01100 FOS_HUMAN v-fos FBJ murine osteosarcoma viral oncogene 143 Basic motif. SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry). cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(2)|ovary(1) 3 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) AGGAGAATCCGAAGGGAAAGG 0.468 NaN 0 0 0 0.001168 0 6 40 ATP10A 57194 broad.mit.edu 37 15 25963405 25963405 + Missense_Mutation SNP T T A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr15:25963405T>A uc010ayu.2 - 8 1611 c.1505A>T c.(1504-1506)CAC>CTC p.H502L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 502 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CGTGCGCCGGTGGGACTTGGT 0.687 NaN 0 0 0 0.014758 0 4 22 ARHGAP11B 89839 broad.mit.edu 37 15 30938316 30938316 + Splice_Site SNP G G A rs112615235 by1000genomes TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr15:30938316G>A uc010azv.1 + 11 c.1127_splice c.e11-1 ARHGAP11B_uc001zeu.2_Splice_Site Q3KRB8 RHGBB_HUMAN Homo sapiens cDNA, FLJ17072. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) TTCCTTGGCAGTGGATAAGTT 0.393 NaN 0 0 0 0.001168 0 6 25 CATSPER2 117155 broad.mit.edu 37 15 43940187 43940187 + Missense_Mutation SNP T T C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr15:43940187T>C uc001zsh.2 - 2 288 c.73A>G c.(73-75)ACT>GCT p.T25A CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.T25A|CATSPER2_uc001zsj.2_Missense_Mutation_p.T25A|CATSPER2_uc001zsk.2_Missense_Mutation_p.T25A|CATSPER2_uc001zsl.1_Intron NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 25 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AGAGAGAAAGTATCGATGAGA 0.473 NaN 0 0 0 0.01441 0 55 282 HERC1 8925 broad.mit.edu 37 15 63970057 63970057 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr15:63970057C>G uc002amp.2 - 37 7205 c.7057G>C c.(7057-7059)GAA>CAA p.E2353Q NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2353 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 ATAGTAATTTCTGCTTCATCC 0.458 NaN 0 0 0 0.004656 0 26 104 IL16 3603 broad.mit.edu 37 15 81592687 81592687 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr15:81592687C>G uc002bgh.3 + 14 3396 c.3020C>G c.(3019-3021)TCT>TGT p.S1007C IL16_uc010blq.1_Missense_Mutation_p.S961C|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.S1049C|IL16_uc002bgg.2_Missense_Mutation_p.S1007C|IL16_uc002bgi.1_Missense_Mutation_p.S397C|IL16_uc002bgj.2_Missense_Mutation_p.S501C|IL16_uc002bgk.2_Missense_Mutation_p.S306C|IL16_uc002bgl.1_Missense_Mutation_p.S306C|IL16_uc010unq.1_Missense_Mutation_p.S306C NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 1007 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 TGCCTTCCATCTTCTATCTCC 0.493 NaN 0 0 0 0.008871 0 20 101 PCSK6 5046 broad.mit.edu 37 15 101906530 101906530 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr15:101906530C>T uc002bwy.2 - 14 2043 c.1729G>A c.(1729-1731)GAT>AAT p.D577N PCSK6_uc010bpd.2_Missense_Mutation_p.D373N|PCSK6_uc010bpe.2_Missense_Mutation_p.D577N|PCSK6_uc002bxa.2_Missense_Mutation_p.D577N|PCSK6_uc002bxb.2_Missense_Mutation_p.D577N|PCSK6_uc002bxc.1_Missense_Mutation_p.D577N|PCSK6_uc002bxd.1_Missense_Mutation_p.D577N|PCSK6_uc002bxe.2_Missense_Mutation_p.D577N|PCSK6_uc002bxf.1_Missense_Mutation_p.D77N NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 577 Homo B/P. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTGGAAAGATCCAGCAACCTG 0.542 NaN 0 0 0 0.001168 0 6 41 SLC5A11 115584 broad.mit.edu 37 16 24920408 24920408 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr16:24920408C>T uc002dmu.2 + 14 1873 c.1641C>T c.(1639-1641)TCC>TCT p.S547S SLC5A11_uc002dms.2_Silent_p.S483S|SLC5A11_uc010vcd.1_Silent_p.S512S|SLC5A11_uc002dmt.2_Silent_p.S391S|SLC5A11_uc010vce.1_Silent_p.S477S|SLC5A11_uc010bxt.2_Silent_p.S483S|SLC5A11_uc002dmv.2_Silent_p.S170S NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 547 Cytoplasmic (Potential). S -> P (in Ref. 5; BAC86105). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) AGCCACCCTCCAAGGAGATGG 0.363 NaN 0 0 0 0.003163 0 15 91 ATXN2L 11273 broad.mit.edu 37 16 28847397 28847397 + Silent SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr16:28847397C>G uc002drc.2 + 22 3207 c.3039C>G c.(3037-3039)CTC>CTG p.L1013L uc010vct.1_Intron|ATXN2L_uc002drb.2_Silent_p.L1013L|ATXN2L_uc002dqy.2_Silent_p.L1013L|ATXN2L_uc002dra.2_Silent_p.L1013L|ATXN2L_uc002dqz.2_Silent_p.L1013L|ATXN2L_uc010vdb.1_Silent_p.L1019L|ATXN2L_uc002dre.2_Silent_p.L1013L|ATXN2L_uc002drf.2_Silent_p.L422L|ATXN2L_uc002drg.2_Silent_p.L296L NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 1013 membrane upper_aerodigestive_tract(1)|ovary(1) 2 TGCCTGCACTCTCAGCTTCCA 0.682 NaN 0 0 0 0.004007 0 15 92 ATXN2L 11273 broad.mit.edu 37 16 28847414 28847414 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr16:28847414C>T uc002drc.2 + 22 3224 c.3056C>T c.(3055-3057)TCA>TTA p.S1019L uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.S1019L|ATXN2L_uc002dqy.2_Missense_Mutation_p.S1019L|ATXN2L_uc002dra.2_Missense_Mutation_p.S1019L|ATXN2L_uc002dqz.2_Missense_Mutation_p.S1019L|ATXN2L_uc010vdb.1_Missense_Mutation_p.S1025L|ATXN2L_uc002dre.2_Missense_Mutation_p.S1019L|ATXN2L_uc002drf.2_Missense_Mutation_p.S428L|ATXN2L_uc002drg.2_Missense_Mutation_p.S302L NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 1019 membrane upper_aerodigestive_tract(1)|ovary(1) 2 TCCACACCCTCACCCTACCCC 0.647 NaN 0 0 0 0.016522 0 21 93 CIAPIN1 57019 broad.mit.edu 37 16 57468081 57468081 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr16:57468081C>T uc002ell.1 - 5 602 c.431G>A c.(430-432)CGA>CAA p.R144Q CIAPIN1_uc002elk.1_RNA|CIAPIN1_uc002elm.1_Missense_Mutation_p.R131Q|CIAPIN1_uc002eln.1_Missense_Mutation_p.R144Q|CIAPIN1_uc010cda.1_Missense_Mutation_p.R144Q|CIAPIN1_uc002elo.1_Missense_Mutation_p.R117Q|CIAPIN1_uc010vhm.1_Missense_Mutation_p.R144Q NM_020313 NP_064709 Q6FI81 CPIN1_HUMAN cytokine induced apoptosis inhibitor 1 144 anti-apoptosis|apoptosis cytoplasm|nucleolus 0 AAGGTGTTCTCGAACAGACTG 0.448 NaN 0 0 0 0.021523 0 25 158 CDH16 1014 broad.mit.edu 37 16 66944181 66944181 + Missense_Mutation SNP G G A rs140255974 TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr16:66944181G>A uc002eql.2 - 15 2222 c.2149C>T c.(2149-2151)CGC>TGC p.R717C CDH16_uc010cdy.2_Missense_Mutation_p.R695C|CDH16_uc002eqm.2_Missense_Mutation_p.R620C NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 717 Extracellular (Potential).|Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTCTGGAGGCGCCAATCCCGT 0.612 NaN 0 0 0 0.007413 0 18 61 KLHL36 79786 broad.mit.edu 37 16 84684521 84684521 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr16:84684521C>T uc002fig.2 + 2 189 c.48C>T c.(46-48)ATC>ATT p.I16I KLHL36_uc010chl.2_Silent_p.I15I NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN kelch-like 36 16 skin(2) 2 CATACAAGATCAGCGAATCAT 0.438 NaN 0 0 0 0.010729 0 12 83 FAM57A 79850 broad.mit.edu 37 17 641234 641234 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr17:641234C>G uc002frp.2 + 3 396 c.355C>G c.(355-357)CTC>GTC p.L119V FAM57A_uc002frq.2_Missense_Mutation_p.L119V|FAM57A_uc002frr.2_Missense_Mutation_p.L29V NM_024792 NP_079068 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 119 TLC.|Helical; (Potential). integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) TCGAAACCGCCTCATGATCAC 0.552 NaN 0 0 0 0.00499 0 17 91 ASPA 443 broad.mit.edu 37 17 3402335 3402335 + Missense_Mutation SNP A A T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr17:3402335A>T uc010ckg.2 + 7 986 c.895A>T c.(895-897)ACT>TCT p.T299S SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.T299S NM_001128085 NP_001121557 P45381 ACY2_HUMAN aspartoacylase 299 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) TGCAAAGACAACTAAACTAAC 0.403 NaN 0 0 0 0.001168 0 5 35 MYH4 4622 broad.mit.edu 37 17 10366440 10366440 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr17:10366440G>C uc002gmn.2 - 10 982 c.871C>G c.(871-873)CAA>GAA p.Q291E uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 291 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GACAGGATTTGATAAAATATG 0.373 NaN 0 0 0 0.012319 0 22 68 NUFIP2 57532 broad.mit.edu 37 17 27613535 27613535 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr17:27613535G>C uc002hdy.3 - 2 1566 c.1477C>G c.(1477-1479)CAG>GAG p.Q493E NUFIP2_uc002hdx.3_Intron NM_020772 NP_065823 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein 493 nucleus|polysomal ribosome protein binding|RNA binding skin(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) TGATCTGTCTGAGAGGGCAGA 0.438 NaN 0 0 0 0.013537 0 12 62 SYNRG 11276 broad.mit.edu 37 17 35913327 35913327 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr17:35913327G>C uc002hoa.2 - 14 2581 c.2498C>G c.(2497-2499)TCT>TGT p.S833C SYNRG_uc010wde.1_Missense_Mutation_p.S755C|SYNRG_uc010wdf.1_Missense_Mutation_p.S755C|SYNRG_uc002hoc.2_Missense_Mutation_p.S754C|SYNRG_uc002hoe.2_Missense_Mutation_p.S755C|SYNRG_uc002hod.2_Missense_Mutation_p.S755C|SYNRG_uc010wdg.1_Missense_Mutation_p.S672C|SYNRG_uc002hob.2_Missense_Mutation_p.S833C|SYNRG_uc002hof.2_Missense_Mutation_p.S545C|SYNRG_uc010cvd.1_Missense_Mutation_p.S633C NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 833 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 AAACTGAACAGAGAGTGCATC 0.463 NaN 0 0 0 0.013537 0 12 72 SC65 10609 broad.mit.edu 37 17 39967426 39967426 + Silent SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr17:39967426G>A uc002hxt.2 - 2 857 c.573C>T c.(571-573)GTC>GTT p.V191V FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Silent_p.V282V NM_006455 NP_006446 Q92791 SC65_HUMAN synaptonemal complex protein SC65 191 synaptonemal complex assembly nucleolus|synaptonemal complex binding 0 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(366;0.149) ACTCGTCGGCGACGTCCAGCA 0.627 NaN 0 0 0 0.010771 0 38 227 TTC25 83538 broad.mit.edu 37 17 40093047 40093047 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr17:40093047G>A uc002hyj.3 + 5 581 c.492G>A c.(490-492)ATG>ATA p.M164I TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.M164I NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 164 cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CTCAGCCCATGAAACACCTCT 0.552 NaN 0 0 0 0.013537 0 13 62 EFTUD2 9343 broad.mit.edu 37 17 42937868 42937868 + Silent SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr17:42937868G>A uc002ihn.2 - 17 1912 c.1651C>T c.(1651-1653)CTG>TTG p.L551L EFTUD2_uc010wje.1_Silent_p.L516L|EFTUD2_uc010wjf.1_Silent_p.L541L NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 551 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) CCTTCAATCAGAACCCAGTTG 0.478 NaN 0 0 0 0.004007 0 16 89 CBX4 8535 broad.mit.edu 37 17 77809510 77809510 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr17:77809510C>T uc002jxe.2 - 4 344 c.181G>A c.(181-183)GAA>AAA p.E61K NM_003655 NP_003646 O00257 CBX4_HUMAN chromobox homolog 4 61 Chromo.|Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity skin(2) 2 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCCTGCCGTTCCCTGGGTGGG 0.637 NaN OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 10 B3GNTL1 146712 broad.mit.edu 37 17 81006556 81006556 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr17:81006556C>T uc002kgg.1 - 2 180 c.166G>A c.(166-168)GAT>AAT p.D56N B3GNTL1_uc002kgf.1_5'UTR NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal 56 transferase activity, transferring glycosyl groups ovary(1)|pancreas(1) 2 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TTACTGGCATCATTGAAAACA 0.507 NaN 0 0 0 0.009535 0 30 102 LAMA3 3909 broad.mit.edu 37 18 21492790 21492790 + Nonsense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr18:21492790C>G uc002kuq.2 + 56 7360 c.7274C>G c.(7273-7275)TCA>TGA p.S2425* LAMA3_uc002kur.2_Nonsense_Mutation_p.S2369*|LAMA3_uc002kus.3_Nonsense_Mutation_p.S816*|LAMA3_uc002kut.3_Nonsense_Mutation_p.S760* NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2425 Laminin G-like 1. 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) AGGCCCAACTCAAGAGAAAAT 0.388 NaN 0 0 0 0.004007 0 16 87 KIAA1468 57614 broad.mit.edu 37 18 59855016 59855016 + Nonsense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr18:59855016C>G uc002lil.2 + 1 493 c.278C>G c.(277-279)TCA>TGA p.S93* PIGN_uc002lii.3_5'Flank|PIGN_uc002lij.3_5'Flank|KIAA1468_uc002lik.1_Nonsense_Mutation_p.S93*|KIAA1468_uc010xel.1_Nonsense_Mutation_p.S93* NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 93 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) GCCCGATTATCAATTGATGCG 0.672 NaN 0 0 0 0.009096 0 3 11 CD209 30835 broad.mit.edu 37 19 7810765 7810765 + Silent SNP C C A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr19:7810765C>A uc002mht.2 - 4 454 c.387G>T c.(385-387)CGG>CGT p.R129R CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.R105R|CD209_uc002mhr.2_Silent_p.R105R|CD209_uc002mhs.2_Silent_p.R105R|CD209_uc002mhu.2_Silent_p.R129R|CD209_uc010dvq.2_Silent_p.R129R|CD209_uc002mhq.2_Silent_p.R129R|CD209_uc002mhv.2_Silent_p.R105R|CD209_uc002mhx.2_Silent_p.R85R|CD209_uc002mhw.2_Silent_p.R85R|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 129 Extracellular (Probable).|2.|7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 CAGCCTTCAGCCGGGTCAGCT 0.567 NaN 1 0 1.22674e-20 0.00874 1.3267e-20 40 164 ZBTB32 27033 broad.mit.edu 37 19 36206379 36206379 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr19:36206379G>A uc002oay.2 + 2 1061 c.851G>A c.(850-852)GGA>GAA p.G284E ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 284 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCACCACTGGAGCCTGGCAG 0.672 NaN 0 0 0 0.016522 0 22 100 C19orf54 284325 broad.mit.edu 37 19 41248515 41248515 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr19:41248515C>T uc002oou.1 - 6 999 c.879G>A c.(877-879)AAG>AAA p.K293K C19orf54_uc002oow.1_Silent_p.K121K|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA NM_198476 NP_940878 Q5BKX5 CS054_HUMAN hypothetical protein LOC284325 293 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGTGCCAACTCTTGCCCTGCT 0.662 NaN 0 0 0 0.004672 0 3 26 SIGLEC8 27181 broad.mit.edu 37 19 51958721 51958721 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr19:51958721C>T uc002pwt.2 - 4 1069 c.1002G>A c.(1000-1002)CAG>CAA p.Q334Q SIGLEC8_uc010yda.1_Silent_p.Q225Q|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.Q241Q NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 334 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCTGGGAGCCCTGAGCGTTCT 0.632 NaN 0 0 0 0.001168 0 5 42 ZNF613 79898 broad.mit.edu 37 19 52448817 52448817 + Missense_Mutation SNP G G T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr19:52448817G>T uc002pxz.1 + 6 2104 c.1681G>T c.(1681-1683)GAT>TAT p.D561Y ZNF613_uc002pya.1_Missense_Mutation_p.D525Y NM_001031721 NP_001026891 Q6PF04 ZN613_HUMAN zinc finger protein 613 isoform 1 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) ACATACACGTGATCTCATACA 0.428 NaN 1 0 2.56e-06 0.009096 2.72818e-06 4 44 ZNF765 91661 broad.mit.edu 37 19 53912233 53912233 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr19:53912233C>T uc010ydx.1 + 6 1752 c.1425C>T c.(1423-1425)TTC>TTT p.F475F ZNF765_uc002qbm.2_Silent_p.F475F|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 475 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) GCAAGACCTTCAGCCGGACGT 0.378 NaN 0 0 0 0.013537 0 11 87 ZNF765 91661 broad.mit.edu 37 19 53912261 53912261 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr19:53912261C>T uc010ydx.1 + 6 1780 c.1453C>T c.(1453-1455)CAT>TAT p.H485Y ZNF765_uc002qbm.2_Missense_Mutation_p.H485Y|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 485 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) TACATACCATCATAGACTTCA 0.373 NaN 0 0 0 0.00308 0 6 81 PXDN 7837 broad.mit.edu 37 2 1670223 1670223 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:1670223C>G uc002qxa.2 - 10 1118 c.1054G>C c.(1054-1056)GAG>CAG p.E352Q PXDN_uc002qxb.1_Missense_Mutation_p.E352Q|PXDN_uc002qxc.1_Missense_Mutation_p.E169Q NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 352 Ig-like C2-type 2. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ACCAGCACCTCTGTATTCTGT 0.532 NaN 0 0 0 0.00308 0 6 17 NRBP1 29959 broad.mit.edu 37 2 27656553 27656553 + Missense_Mutation SNP A A G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:27656553A>G uc002rko.2 + 4 1056 c.224A>G c.(223-225)AAT>AGT p.N75S NRBP1_uc002rkq.2_Missense_Mutation_p.N75S|NRBP1_uc002rkp.2_Missense_Mutation_p.N75S|NRBP1_uc002rkr.2_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 75 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) AATCAACGGAATGTACCAGGT 0.418 NaN 0 0 0 0.004482 0 9 80 BIRC6 57448 broad.mit.edu 37 2 32694656 32694656 + Silent SNP A A G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:32694656A>G uc010ezu.2 + 30 6455 c.6321A>G c.(6319-6321)GAA>GAG p.E2107E NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2107 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ACAATTCGGAACAGCTTCTCA 0.388 NaN 0 0 0 0.007413 0 20 167 LTBP1 4052 broad.mit.edu 37 2 33500072 33500072 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:33500072G>C uc002ros.2 + 17 2787 c.2787G>C c.(2785-2787)CAG>CAC p.Q929H LTBP1_uc002rot.2_Missense_Mutation_p.Q603H|LTBP1_uc002rou.2_Missense_Mutation_p.Q602H|LTBP1_uc002rov.2_Missense_Mutation_p.Q549H|LTBP1_uc010ymz.1_Missense_Mutation_p.Q602H|LTBP1_uc010yna.1_Missense_Mutation_p.Q549H NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 928 EGF-like 5; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TCTGCTCCCAGGGCCGCTGTG 0.438 NaN 0 0 0 0.021523 0 24 84 C2orf42 54980 broad.mit.edu 37 2 70409093 70409093 + Missense_Mutation SNP T T C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:70409093T>C uc002sgh.2 - 3 353 c.25A>G c.(25-27)AAA>GAA p.K9E NM_017880 NP_060350 Q9NWW7 CB042_HUMAN hypothetical protein LOC54980 9 0 GCTGGGACTTTAGTCCTCAGA 0.438 NaN 0 0 0 0.003163 0 13 46 AFF3 3899 broad.mit.edu 37 2 100167951 100167951 + Silent SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:100167951G>A uc002tag.2 - 24 3902 c.3666C>T c.(3664-3666)AGC>AGT p.S1222S AFF3_uc002taf.2_Silent_p.S1247S NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 1222 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.G1222>V(1) ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 ACAGGTGGGCGCTGTTCCGCA 0.612 NaN 0 0 0 0.001984 0 7 20 GCC2 9648 broad.mit.edu 37 2 109102293 109102293 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:109102293G>A uc002tec.2 + 15 3875 c.3721G>A c.(3721-3723)GAT>AAT p.D1241N GCC2_uc002ted.2_Missense_Mutation_p.D1140N NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1241 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 ATAGGAAACTGATCACTTAAT 0.274 NaN 0 0 0 0.004672 0 3 26 XIRP2 129446 broad.mit.edu 37 2 168106607 168106607 + Missense_Mutation SNP A A G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:168106607A>G uc002udx.2 + 8 8723 c.8705A>G c.(8704-8706)AAG>AGG p.K2902R XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2727R|XIRP2_uc010fpq.2_Missense_Mutation_p.K2680R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.K248R NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2727 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTCGAAGTCAAGGGCATACAA 0.378 NaN 0 0 0 0.010729 0 12 30 SSB 6741 broad.mit.edu 37 2 170666827 170666827 + Missense_Mutation SNP A A C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:170666827A>C uc002ufk.2 + 9 811 c.704A>C c.(703-705)AAA>ACA p.K235T SSB_uc002ufl.2_Missense_Mutation_p.K235T|SSB_uc002ufm.2_Missense_Mutation_p.K235T NM_003142 NP_003133 P05455 LA_HUMAN autoantigen La 235 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding skin(3)|pancreas(1) 4 TGCTTGCTGAAATTTTCGGGT 0.333 NaN 0 0 0 0.006214 0 10 46 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:178098810C>T uc002ulh.3 - 2 790 c.235G>A c.(235-237)GAG>AAG p.E79K NFE2L2_uc002ulg.3_Missense_Mutation_p.E63K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63K|NFE2L2_uc002uli.3_Missense_Mutation_p.E63K|NFE2L2_uc010fra.2_Missense_Mutation_p.E63K|NFE2L2_uc010frb.2_Missense_Mutation_p.E63K NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.016522 0 23 44 CCDC108 255101 broad.mit.edu 37 2 219884302 219884302 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:219884302C>T uc002vjl.1 - 20 3483 c.3399G>A c.(3397-3399)CTG>CTA p.L1133L CCDC108_uc002vjm.3_Silent_p.L18L NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1133 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAAGCAGGTCCAGAGAGAAGA 0.622 NaN 0 0 0 0.004482 0 8 42 SPEG 10290 broad.mit.edu 37 2 220337742 220337742 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr2:220337742C>T uc010fwg.2 + 16 4071 c.4071C>T c.(4069-4071)TTC>TTT p.F1357F NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1357 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCACATCTTCCGGGTCCTCA 0.672 NaN 0 0 0 0.012319 0 19 46 PTPRA 5786 broad.mit.edu 37 20 3007825 3007825 + Silent SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr20:3007825G>A uc010zqd.1 + 18 2117 c.1800G>A c.(1798-1800)GTG>GTA p.V600V PTPRA_uc002whj.2_Silent_p.V589V|PTPRA_uc002whk.2_Silent_p.V580V|PTPRA_uc002whl.2_Silent_p.V580V|PTPRA_uc002whm.2_Silent_p.V356V|PTPRA_uc002whn.2_Silent_p.V580V|PTPRA_uc002who.2_Silent_p.V252V NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 589 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 CAGACTATGTGAACGCATCCT 0.493 NaN 0 0 0 0.006122 0 19 136 NINL 22981 broad.mit.edu 37 20 25481640 25481640 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr20:25481640C>G uc002wux.1 - 8 942 c.868G>C c.(868-870)GAG>CAG p.E290Q NINL_uc010gdn.1_Missense_Mutation_p.E290Q|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.E306Q NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 290 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CCGCTCTCCTCTGGGACCTGC 0.607 NaN 0 0 0 0.00308 0 6 17 TPTE 7179 broad.mit.edu 37 21 10944672 10944672 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr21:10944672G>A uc002yip.1 - 11 930 c.562C>T c.(562-564)CCC>TCC p.P188S TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P170S|TPTE_uc002yir.1_Missense_Mutation_p.P150S|TPTE_uc010gkv.1_Missense_Mutation_p.P50S NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 188 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCATACCTGGGAATATTCCTA 0.284 NaN 0 0 0 0.006214 0 9 173 ATP5O 539 broad.mit.edu 37 21 35276300 35276300 + Missense_Mutation SNP T T A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr21:35276300T>A uc002ytl.2 - 6 558 c.467A>T c.(466-468)GAA>GTA p.E156V DONSON_uc002ysn.1_Intron NM_001697 NP_001688 P48047 ATPO_HUMAN mitochondrial ATP synthase, O subunit precursor 156 ATP catabolic process|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex|plasma membrane|proton-transporting ATP synthase complex, catalytic core F(1) drug binding|hydrogen ion transporting ATP synthase activity, rotational mechanism ovary(1) 1 AGTTTTTAATTCAGAGAGTGT 0.383 NaN 0 0 0 0.010729 0 11 57 RAB36 9609 broad.mit.edu 37 22 23501351 23501351 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr22:23501351C>T uc002zwv.1 + 9 768 c.728C>T c.(727-729)TCA>TTA p.S243L RAB36_uc010gtw.1_Missense_Mutation_p.S221L NM_004914 NP_004905 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 243 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) TTCTCCCAGTCAGGGGCCGCA 0.662 NaN 0 0 0 0.009096 0 3 10 PMM1 5372 broad.mit.edu 37 22 41980593 41980593 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr22:41980593C>G uc003bal.2 - 3 282 c.220G>C c.(220-222)GAT>CAT p.D74H NM_002676 NP_002667 Q92871 PMM1_HUMAN phosphomannomutase 1 74 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity ovary(1) 1 AACACATAATCAAACTTCTCA 0.547 NaN 0 0 0 0.008871 0 20 107 CCR5 1234 broad.mit.edu 37 3 46414642 46414642 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr3:46414642C>T uc003cpo.3 + 3 371 c.249C>T c.(247-249)GTC>GTT p.V83V CCR5_uc010hjd.2_Silent_p.V83V NM_001100168 NP_001093638 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 83 Helical; Name=2; (Potential). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) TTCTTACTGTCCCCTTCTGGG 0.473 NaN 0 0 0 0.012213 0 35 162 HYAL3 8372 broad.mit.edu 37 3 50331065 50331065 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr3:50331065C>G uc003czd.1 - 3 1255 c.982G>C c.(982-984)GAG>CAG p.E328Q HYAL3_uc003czc.1_Intron|HYAL3_uc003cze.1_Missense_Mutation_p.E79Q|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank NM_003549 NP_003540 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 precursor 328 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) ATGATCACCTCAGAGCTGGAG 0.587 NaN 0 0 0 0.013537 0 12 103 IGSF11 152404 broad.mit.edu 37 3 118624510 118624510 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr3:118624510C>G uc003ebw.2 - 5 883 c.636G>C c.(634-636)TTG>TTC p.L212F IGSF11_uc011biv.1_Missense_Mutation_p.L212F|IGSF11_uc003ebx.2_Intron|IGSF11_uc003eby.2_Missense_Mutation_p.L211F|IGSF11_uc003ebz.2_Intron|IGSF11_uc010hqs.2_Missense_Mutation_p.L211F NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 212 Ig-like C2-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 CGCACTGGTACAAACCTGAAG 0.468 NaN 0 0 0 0.009096 0 4 60 SRPRB 58477 broad.mit.edu 37 3 133524732 133524732 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr3:133524732G>A uc003epx.1 + 1 56 c.40G>A c.(40-42)GGT>AGT p.G14S NM_021203 NP_067026 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, beta 14 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity ovary(1) 1 AGATGGCGGCGGTGCCGGGGG 0.672 NaN 0 0 0 0.004007 0 14 49 WDR49 151790 broad.mit.edu 37 3 167249008 167249008 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr3:167249008C>G uc003fev.1 - 9 1363 c.1057G>C c.(1057-1059)GAC>CAC p.D353H WDR49_uc003feu.1_Missense_Mutation_p.D178H|WDR49_uc011bpd.1_Missense_Mutation_p.D417H|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 353 large_intestine(1)|ovary(1)|skin(1) 3 GTAGAATGGTCTGCCATGGGG 0.433 NaN 0 0 0 0.014758 0 4 26 GHSR 2693 broad.mit.edu 37 3 172166168 172166168 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr3:172166168G>C uc003fib.1 - 1 36 c.36C>G c.(34-36)TTC>TTG p.F12L GHSR_uc011bpv.1_Missense_Mutation_p.F12L NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 12 Extracellular (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GTGTGAGGTTGAACCCCGGCT 0.697 NaN 0 0 0 0.010729 0 11 23 CEP135 9662 broad.mit.edu 37 4 56885642 56885642 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr4:56885642C>T uc003hbi.2 + 23 3370 c.3136C>T c.(3136-3138)CAT>TAT p.H1046Y CEP135_uc003hbj.2_Missense_Mutation_p.H752Y NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 1046 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) TAAAGAATTTCATTCTCACTT 0.358 NaN 0 0 0 0.014758 0 5 23 CYP2U1 113612 broad.mit.edu 37 4 108866647 108866647 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr4:108866647G>A uc003hyp.2 + 2 1095 c.1012G>A c.(1012-1014)GAT>AAT p.D338N CYP2U1_uc011cfi.1_Missense_Mutation_p.D129N NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, 338 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) CAGCAGTTTTGATGAAGAGTA 0.413 NaN 0 0 0 0.006122 0 18 73 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr4:153247289G>C uc003ims.2 - 10 1662 c.1513C>G c.(1513-1515)CGC>GGC p.R505G FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 505 WD 4. R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.001984 0 6 41 FAT1 2195 broad.mit.edu 37 4 187540912 187540912 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr4:187540912G>C uc003izf.2 - 10 7016 c.6828C>G c.(6826-6828)ATC>ATG p.I2276M NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2276 Extracellular (Potential).|Cadherin 20. 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 GGTTATCATTGATGTCGTCTA 0.493 NaN HNSCC(5;0.00058) 0 0 0 0.008871 0 20 114 CTNND2 1501 broad.mit.edu 37 5 11732250 11732250 + Missense_Mutation SNP G G T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr5:11732250G>T uc003jfa.1 - 2 317 c.172C>A c.(172-174)CAG>AAG p.Q58K CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 58 Potential. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GTTTCTACCTGTTCTTTGACT 0.418 NaN 1 0 3.86212e-05 0.008291 4.08601e-05 9 47 GPR98 84059 broad.mit.edu 37 5 89969991 89969991 + Missense_Mutation SNP A A C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr5:89969991A>C uc003kju.2 + 23 5146 c.5050A>C c.(5050-5052)AGC>CGC p.S1684R GPR98_uc003kjt.2_5'UTR|GPR98_uc010jba.1_RNA NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1684 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) CAGTGGTGCAAGCATAGATCC 0.423 NaN 0 0 0 0.001168 0 6 27 SLCO4C1 353189 broad.mit.edu 37 5 101592818 101592818 + Splice_Site SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr5:101592818C>T uc003knm.2 - 8 1756 c.1469_splice c.e8+1 p.G490_splice NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) ATTGTATTTACCCATTATATG 0.323 NaN 0 0 0 0.008291 0 10 43 PCDHAC1 56135 broad.mit.edu 37 5 140306514 140306514 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr5:140306514G>A uc003lih.2 + 1 213 c.37G>A c.(37-39)GTT>ATT p.V13I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.V13I NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 13 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGTTTGTGGGTTTCCTGCGG 0.632 NaN 0 0 0 0.014758 0 5 50 PCDHB6 56130 broad.mit.edu 37 5 140531711 140531711 + Missense_Mutation SNP G G T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr5:140531711G>T uc003lir.2 + 1 1873 c.1873G>T c.(1873-1875)GCC>TCC p.A625S PCDHB6_uc011dah.1_Missense_Mutation_p.A489S NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 625 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGCGCACCGCCAGGCTGCT 0.687 NaN 1 0 0.000308642 0.003163 0.000324185 11 45 GABRA1 2554 broad.mit.edu 37 5 161300148 161300148 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr5:161300148G>A uc010jiw.2 + 6 749 c.281G>A c.(280-282)CGT>CAT p.R94H GABRA1_uc010jix.2_Missense_Mutation_p.R94H|GABRA1_uc010jiy.2_Missense_Mutation_p.R94H|GABRA1_uc003lyx.3_Missense_Mutation_p.R94H|GABRA1_uc010jiz.2_Missense_Mutation_p.R94H|GABRA1_uc010jja.2_Missense_Mutation_p.R94H|GABRA1_uc010jjb.2_Missense_Mutation_p.R94H NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 94 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.R94H(1) ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GTATTTTTCCGTCAAAGCTGG 0.373 NaN 0 0 0 0.009096 0 4 35 CUL9 23113 broad.mit.edu 37 6 43174208 43174208 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr6:43174208C>T uc003ouk.2 + 26 5247 c.5172C>T c.(5170-5172)TTC>TTT p.F1724F CUL9_uc003oul.2_Silent_p.F1724F|CUL9_uc010jyk.2_Silent_p.F876F NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1724 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CCACAGAATTCTGTGATGCCC 0.542 NaN 0 0 0 0.014323 0 22 96 ZNF318 24149 broad.mit.edu 37 6 43305865 43305865 + Silent SNP A A T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr6:43305865A>T uc003oux.2 - 10 5949 c.5871T>A c.(5869-5871)GCT>GCA p.A1957A ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1957 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CATCCCAAACAGCCAACTCAT 0.428 NaN 0 0 0 0.008291 0 11 83 SLC35B2 347734 broad.mit.edu 37 6 44223092 44223092 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr6:44223092G>A uc003oxd.2 - 4 786 c.650C>T c.(649-651)GCC>GTC p.A217V SLC35B2_uc011dvt.1_Missense_Mutation_p.A120V|SLC35B2_uc011dvu.1_Missense_Mutation_p.A84V NM_178148 NP_835361 Q8TB61 S35B2_HUMAN solute carrier family 35, member B2 217 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CACCTTAGAGGCCTTGGCCAG 0.562 NaN 0 0 0 0.008871 0 20 100 ENPP3 5169 broad.mit.edu 37 6 131979502 131979502 + Silent SNP A A G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr6:131979502A>G uc003qcu.3 + 7 851 c.504A>G c.(502-504)GGA>GGG p.G168G ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Silent_p.G134G|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.G168G NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 168 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CTATGGATGGATTTAGAGCTG 0.338 NaN 0 0 0 0.009096 0 3 23 SHPRH 257218 broad.mit.edu 37 6 146275906 146275906 + Missense_Mutation SNP T T C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr6:146275906T>C uc003qlf.2 - 2 952 c.553A>G c.(553-555)ATG>GTG p.M185V SHPRH_uc003qld.2_Missense_Mutation_p.M185V|SHPRH_uc003qle.2_Missense_Mutation_p.M185V|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.M74V|SHPRH_uc003qlk.1_Missense_Mutation_p.M185V NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 185 M -> V (in Ref. 3; CAH18145). DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TCTTCTAACATTTCACCACTG 0.363 NaN 0 0 0 0.007413 0 19 46 ARID1B 57492 broad.mit.edu 37 6 157517418 157517418 + Nonsense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr6:157517418C>T uc003qqn.2 + 16 4080 c.3928C>T c.(3928-3930)CAG>TAG p.Q1310* ARID1B_uc003qqo.2_Nonsense_Mutation_p.Q1270*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.Q1257* NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1315 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GCAGCGCCAGCAGTTTCCCTA 0.478 NaN 0 0 0 0.019004 0 34 167 RBAK 57786 broad.mit.edu 37 7 5103941 5103941 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr7:5103941G>C uc010kss.1 + 6 1178 c.854G>C c.(853-855)GGA>GCA p.G285A LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.G285A NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 285 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GCTCACACAGGAGAGAAACCT 0.418 NaN 0 0 0 0.006214 0 10 39 FERD3L 222894 broad.mit.edu 37 7 19184848 19184848 + Silent SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr7:19184848G>A uc003suo.1 - 1 197 c.138C>T c.(136-138)CTC>CTT p.L46L uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 46 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 TTCCCTCTCGGAGCGCAAGGG 0.453 NaN 0 0 0 0.009096 0 4 44 NPVF 64111 broad.mit.edu 37 7 25264765 25264765 + Silent SNP A A G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr7:25264765A>G uc003sxo.2 - 3 614 c.567T>C c.(565-567)GAT>GAC p.D189D NM_022150 NP_071433 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 189 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity ovary(1) 1 TCAATTCTGCATCATCTATTT 0.393 NaN 0 0 0 0.001168 0 6 48 PAX4 5078 broad.mit.edu 37 7 127255466 127255466 + Missense_Mutation SNP G G A rs35155575 byFrequency TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr7:127255466G>A uc010lld.1 - 1 315 c.109C>T c.(109-111)CGG>TGG p.R37W PAX4_uc003vmf.2_Translation_Start_Site|PAX4_uc003vmg.1_Missense_Mutation_p.R37W|PAX4_uc003vmh.2_Translation_Start_Site NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 45 Paired. R -> W (associated with PKD susceptbility). cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTAAGGATCCGTGAGATGTCA 0.602 NaN 0 0 0 0.003163 0 13 107 MLL3 58508 broad.mit.edu 37 7 151949162 151949162 + Missense_Mutation SNP C C G TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr7:151949162C>G uc003wla.2 - 11 1702 c.1483G>C c.(1483-1485)GAG>CAG p.E495Q NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 495 PHD-type 3. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTGTCACACTCTAGGTGAACC 0.378 NaN N medulloblastoma 0 0 0 0.014758 0 4 19 RAB11FIP1 80223 broad.mit.edu 37 8 37730530 37730530 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr8:37730530G>C uc003xkm.1 - 4 1834 c.1790C>G c.(1789-1791)TCT>TGT p.S597C RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 597 Ser-rich. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) AGATGAGAGAGAGGAGAAGAC 0.547 NaN 0 0 0 0.004007 0 17 98 BAG4 9530 broad.mit.edu 37 8 38065264 38065264 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr8:38065264C>T uc003xky.1 + 3 895 c.613C>T c.(613-615)CCA>TCA p.P205S BAG4_uc003xkz.1_Missense_Mutation_p.P169S NM_004874 NP_004865 O95429 BAG4_HUMAN BCL2-associated athanogene 4 205 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) GGGGCAGGTTCCAGGATATCC 0.478 NaN 0 0 0 0.020292 0 13 78 CHD7 55636 broad.mit.edu 37 8 61769208 61769208 + Missense_Mutation SNP A A T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 A T A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr8:61769208A>T uc003xue.2 + 34 7846 c.7369A>T c.(7369-7371)AAT>TAT p.N2457Y NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2457 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTCTACCTCAAATTTTTCATC 0.428 NaN 0 0 0 0.006122 0 17 98 PKHD1L1 93035 broad.mit.edu 37 8 110460508 110460508 + Missense_Mutation SNP T T A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr8:110460508T>A uc003yne.2 + 39 6017 c.5913T>A c.(5911-5913)GAT>GAA p.D1971E NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1971 Extracellular (Potential).|IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCGTGGGAGATCATGCTGGGG 0.408 NaN HNSCC(38;0.096) 0 0 0 0.009096 0 4 16 BNC2 54796 broad.mit.edu 37 9 16437456 16437456 + Nonsense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr9:16437456G>A uc003zml.2 - 6 876 c.736C>T c.(736-738)CAG>TAG p.Q246* BNC2_uc011lmw.1_Nonsense_Mutation_p.Q151*|BNC2_uc003zmm.2_Nonsense_Mutation_p.Q204*|BNC2_uc003zmq.1_Nonsense_Mutation_p.Q260*|BNC2_uc003zmr.1_Nonsense_Mutation_p.Q283*|BNC2_uc003zmp.1_Nonsense_Mutation_p.Q274*|BNC2_uc010mij.1_Nonsense_Mutation_p.Q168*|BNC2_uc011lmv.1_Nonsense_Mutation_p.Q72*|BNC2_uc003zmo.1_Nonsense_Mutation_p.Q168*|BNC2_uc003zmj.2_Nonsense_Mutation_p.Q11*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.Q11*|BNC2_uc003zmn.1_Nonsense_Mutation_p.Q11* NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) AGAAACTGCTGAAGGGTGATG 0.498 NaN 0 0 0 0.001984 0 6 37 TNC 3371 broad.mit.edu 37 9 117810616 117810616 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr9:117810616C>T uc004bjj.3 - 16 5137 c.4775G>A c.(4774-4776)GGC>GAC p.G1592D TNC_uc010mvf.2_Intron NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1592 Fibronectin type-III 11. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 ATAGCCAATGCCAGTTATGAG 0.498 NaN 0 0 0 0.003163 0 15 42 NUP214 8021 broad.mit.edu 37 9 134026017 134026017 + Missense_Mutation SNP G G C TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr9:134026017G>C uc004cag.2 + 16 2253 c.2142G>C c.(2140-2142)CAG>CAC p.Q714H NUP214_uc004cah.2_Missense_Mutation_p.Q704H|NUP214_uc004cai.2_Missense_Mutation_p.Q144H|NUP214_uc004caf.1_Missense_Mutation_p.Q703H|NUP214_uc010mzf.2_Missense_Mutation_p.Q12H NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 714 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CACACTTTCAGAAGGAGTTGG 0.458 NaN T DEK|SET|ABL1 AML|T-ALL 0 0 0 0.004007 0 16 83 VCX3B 425054 broad.mit.edu 37 X 8433508 8433508 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chrX:8433508G>A uc010ndo.2 + 2 324 c.17G>A c.(16-18)AGA>AAA p.R6K VCX3B_uc011mht.1_Missense_Mutation_p.R6K|VCX3B_uc004csd.1_Missense_Mutation_p.R6K NM_001001888 NP_001001888 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 6 nucleolus 0 CCAAAGCCGAGAGCCTCGGGA 0.612 NaN 0 0 0 0.00632 0 25 67 DDX3X 1654 broad.mit.edu 37 X 41204468 41204468 + Missense_Mutation SNP A A T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chrX:41204468A>T uc004dfe.2 + 11 1916 c.1061A>T c.(1060-1062)GAT>GTT p.D354V DDX3X_uc004dff.2_Missense_Mutation_p.D354V|DDX3X_uc011mkq.1_Missense_Mutation_p.D338V|DDX3X_uc011mkr.1_Missense_Mutation_p.D354V|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 354 Necessary for interaction with XPO1.|Helicase ATP-binding. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 CGGATGTTGGATATGGGGTTT 0.403 NaN HNSCC(61;0.18) 0 0 0 0.00623 0 39 176 TFE3 7030 broad.mit.edu 37 X 48895849 48895849 + Missense_Mutation SNP G G A TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chrX:48895849G>A uc004dmb.3 - 4 891 c.653C>T c.(652-654)CCA>CTA p.P218L TFE3_uc004dmc.3_Missense_Mutation_p.P113L|TFE3_uc004dme.1_RNA NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 218 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 CCCCGGCGGTGGGGTGAGGGC 0.706 NaN T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 0 0 0 0.014758 0 4 13 ZC3H12B 340554 broad.mit.edu 37 X 64708913 64708913 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chrX:64708913C>T uc010nko.2 + 1 208 c.199C>T c.(199-201)CGC>TGC p.R67C NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 67 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 CAAGCCACACCGCCAGCTCTG 0.488 NaN 0 0 0 0.001984 0 6 35 YIPF6 286451 broad.mit.edu 37 X 67741303 67741303 + Missense_Mutation SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chrX:67741303C>T uc004dwy.2 + 5 421 c.398C>T c.(397-399)ACC>ATC p.T133I YIPF6_uc011mph.1_Missense_Mutation_p.T90I NM_173834 NP_776195 Q96EC8 YIPF6_HUMAN Yip1 domain family, member 6 133 Helical; (Potential). endoplasmic reticulum|integral to membrane 0 GGTGCAGTTACCATCACCCTC 0.403 NaN 0 0 0 0.00499 0 16 70 FAM127A 8933 broad.mit.edu 37 X 134166743 134166743 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chrX:134166743C>T uc004eyd.2 + 1 411 c.330C>T c.(328-330)GAC>GAT p.D110D uc004eye.1_RNA NM_001078171 NP_001071639 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 110 0 Acute lymphoblastic leukemia(192;0.000127) GGGAGGAGGACGAGGACTTCT 0.657 NaN 0 0 0 0.004482 0 8 30 ARID1A 8289 broad.mit.edu 37 1 27094409 27094410 + Frame_Shift_Del DEL AA AA - TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 AA - AA AA Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr1:27094409_27094410delAA uc001bmv.1 + 11 3490_3491 c.3117_3118delAA c.(3115-3120)ACAAATfs p.T1039fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.T1039fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1039fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.T656fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1039_1040 ARID. 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) TGGGCATGACAAATCTGCCTGC 0.535 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 69 98 --- --- GLIS1 148979 broad.mit.edu 37 1 53975643 53975644 + Frame_Shift_Ins INS - - G rs149623150 by1000genomes TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr1:53975643_53975644insG uc001cvr.1 - 8 1982_1983 c.1415_1416insC c.(1414-1416)CCGfs p.P472fs NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 472 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 GGGGCAGCGGCGGTGGCCCCAG 0.688 NaN NaN NaN NaN NaN NaN 2 4 --- --- PDXDC1 23042 broad.mit.edu 37 16 15110963 15110989 + Splice_Site DEL GTTTTTTCTTCCAGTGTGAATCTGGCA GTTTTTTCTTCCAGTGTGAATCTGGCA - rs3205773 TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr16:15110963_15110989delGTTTTTTCTTCCAGTGTGAATCTGGCA uc002dda.3 + 10 1037 c.813_splice c.e10-1 p.G271_splice PDXDC1_uc010uzl.1_Splice_Site_p.G256_splice|PDXDC1_uc010uzm.1_Splice_Site_p.G180_splice|PDXDC1_uc002dcz.2_Splice_Site_p.G248_splice|PDXDC1_uc002ddb.3_Splice_Site_p.G244_splice|PDXDC1_uc010uzn.1_Splice_Site_p.G243_splice|PDXDC1_uc002ddc.2_Splice_Site_p.G271_splice NM_015027 NP_055842 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) TTGGACTGGTGTTTTTTCTTCCAGTGTGAATCTGGCAACATTGGCTC 0.348 NaN NaN NaN NaN NaN NaN 8 702 --- --- RUNX2 860 broad.mit.edu 37 6 45514577 45514577 + Frame_Shift_Del DEL G G - TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa490522-7bb9-4f82-8f19-eaf63f719bfe 5e1e29aa-bf11-4297-9681-e883ca7558d3 g.chr6:45514577delG uc011dvx.1 + 9 1311 c.1101delG c.(1099-1101)CTGfs p.L367fs RUNX2_uc011dvy.1_Frame_Shift_Del_p.L345fs|RUNX2_uc003oxt.2_Frame_Shift_Del_p.L353fs NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 367 Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 CTTCAGAACTGGGCCCTTTTT 0.393 NaN NaN NaN NaN NaN NaN 15 80 --- ---