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 ZFYVE9 9372 broad.mit.edu 37 1 52704095 52704095 + Missense_Mutation SNP G T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr1:52704095G>T uc001cto.2 + 4 1178 c.1006G>T c.(1006-1008)GGT>TGT p.G336C ZFYVE9_uc001ctn.2_Missense_Mutation_p.G336C|ZFYVE9_uc001ctp.2_Missense_Mutation_p.G336C NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 336 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 CCTCCGGTCTGGTTTACCTTT 0.468 FLG 2312 broad.mit.edu 37 1 152275656 152275656 + Silent SNP G A A rs147335121 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr1:152275656G>A uc001ezu.1 - 3 11742 c.11706C>T c.(11704-11706)CCC>CCT p.P3902P NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3902 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGAGGATCCGGGGTGTCTGG 0.517 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152329436 152329436 + Nonsense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr1:152329436G>A uc001ezw.3 - 3 899 c.826C>T c.(826-828)CGA>TGA p.R276* uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 276 Ser-rich.|Filaggrin 1. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCATGACTTCGCCTCCCACTG 0.448 PFDN2 5202 broad.mit.edu 37 1 161072146 161072146 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr1:161072146C>T uc001fxu.2 - 2 145 c.95G>A c.(94-96)CGC>CAC p.R32H NM_012394 NP_036526 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 32 GFNRLR -> SFNAF (in Ref. 3; AAF36151). 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding 0 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CTGCCGAAGGCGGTTGAAGCC 0.527 HMCN1 83872 broad.mit.edu 37 1 186114957 186114957 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr1:186114957G>A uc001grq.1 + 93 14739 c.14510G>A c.(14509-14511)CGG>CAG p.R4837Q HMCN1_uc001grs.1_Missense_Mutation_p.R406Q NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4837 TSP type-1 6. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAAAAGACTCGGAAGCGGCTG 0.552 CACNA1S 779 broad.mit.edu 37 1 201047161 201047161 + Missense_Mutation SNP G A A rs138364213 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr1:201047161G>A uc001gvv.2 - 11 1692 c.1465C>T c.(1465-1467)CGC>TGC p.R489C NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 489 II.|Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGTACTGGCGCAGGCCCAGC 0.582 USH2A 7399 broad.mit.edu 37 1 215853692 215853692 + Silent SNP G A A rs55921307 byFrequency TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr1:215853692G>A uc001hku.1 - 62 12480 c.12093C>T c.(12091-12093)TAC>TAT p.Y4031Y NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4031 Fibronectin type-III 25.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTTCTAACCCGTACAGGTGGG 0.388 HNSCC(13;0.011) PTEN 5728 broad.mit.edu 37 10 89693009 89693009 + Splice_Site SNP G T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr10:89693009G>T uc001kfb.2 + 6 1523 c.492_splice c.e6+1 p.K164_splice NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.Y27fs*1(2)|p.?(2)|p.K163_V166>NKGE(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGACAAAAAGGTAAGTTATTT 0.313 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PIK3AP1 118788 broad.mit.edu 37 10 98411291 98411291 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr10:98411291G>A uc001kmq.2 - 5 958 c.830C>T c.(829-831)GCG>GTG p.A277V PIK3AP1_uc001kmp.2_Missense_Mutation_p.A99V NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 277 DBB. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CACAGGATTCGCGGCATTGGA 0.398 CNGA4 1262 broad.mit.edu 37 11 6261464 6261464 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr11:6261464C>T uc001mco.2 + 4 547 c.440C>T c.(439-441)GCG>GTG p.A147V CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.A107V NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 147 Extracellular (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTCTCCGCGCGCCCCGCCTC 0.587 OR5D14 219436 broad.mit.edu 37 11 55563770 55563770 + Missense_Mutation SNP C A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr11:55563770C>A uc010rim.1 + 1 739 c.739C>A c.(739-741)CTG>ATG p.L247M NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) GGCCTCCCACCTGACTTCTAT 0.453 DDI1 414301 broad.mit.edu 37 11 103908142 103908142 + Missense_Mutation SNP C G G TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr11:103908142C>G uc001phr.2 + 1 835 c.592C>G c.(592-594)CTT>GTT p.L198V PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 198 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GCAAGAGAGGCTTCGTCTCTA 0.522 OR8A1 390275 broad.mit.edu 37 11 124440263 124440263 + Missense_Mutation SNP T A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr11:124440263T>A uc010san.1 + 1 299 c.299T>A c.(298-300)GTG>GAG p.V100E NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 100 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) AAGATGCTGGTGAACTTTGTG 0.463 ANKRD33 341405 broad.mit.edu 37 12 52284606 52284606 + Missense_Mutation SNP C A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr12:52284606C>A uc001rzf.3 + 5 1080 c.501C>A c.(499-501)AGC>AGA p.S167R ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.S292R|ANKRD33_uc001rze.2_Missense_Mutation_p.S188R|ANKRD33_uc001rzg.3_Missense_Mutation_p.S94R|ANKRD33_uc001rzi.3_Missense_Mutation_p.S167R NM_001130015 NP_001123487 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 isoform 1 167 0 BRCA - Breast invasive adenocarcinoma(357;0.0969) CTACCTTGAGCCTCCCCTTTG 0.557 OR6C3 254786 broad.mit.edu 37 12 55726370 55726370 + Missense_Mutation SNP C A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr12:55726370C>A uc010spj.1 + 1 886 c.886C>A c.(886-888)CAA>AAA p.Q296K NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GCAAGTAAAACAAGCCTTCAA 0.338 PTPRB 5787 broad.mit.edu 37 12 70933755 70933755 + Missense_Mutation SNP C T T rs139546127 by1000genomes TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr12:70933755C>T uc001swb.3 - 22 5018 c.4988G>A c.(4987-4989)CGA>CAA p.R1663Q PTPRB_uc010sto.1_Missense_Mutation_p.R1573Q|PTPRB_uc010stp.1_Missense_Mutation_p.R1573Q|PTPRB_uc001swc.3_Missense_Mutation_p.R1881Q|PTPRB_uc001swa.3_Missense_Mutation_p.R1793Q NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1663 Cytoplasmic (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGATAATGGTCGATCCCTACG 0.413 PTPRR 5801 broad.mit.edu 37 12 71286587 71286587 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr12:71286587G>A uc001swi.1 - 2 645 c.229C>T c.(229-231)CGC>TGC p.R77C NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 77 Extracellular (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) ATCTGGTGGCGTTTGCTTACT 0.448 C12orf63 374467 broad.mit.edu 37 12 97073486 97073486 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr12:97073486G>A uc001tet.1 + 7 1025 c.947G>A c.(946-948)CGA>CAA p.R316Q NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 316 skin(6)|ovary(1) 7 AGATCAATCCGACACAGCAGA 0.453 OASL 8638 broad.mit.edu 37 12 121465457 121465457 + Missense_Mutation SNP C G G TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr12:121465457C>G uc001tzj.1 - 4 827 c.821G>C c.(820-822)TGT>TCT p.C274S OASL_uc001tzk.1_Intron NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 274 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity skin(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCAGTAGATACAGATGACTTC 0.453 EP400 57634 broad.mit.edu 37 12 132512816 132512816 + Silent SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr12:132512816G>A uc001ujn.2 + 26 5399 c.5364G>A c.(5362-5364)CTG>CTA p.L1788L EP400_uc001ujl.2_Silent_p.L1787L|EP400_uc001ujm.2_Silent_p.L1707L NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1824 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GAGAGTCTCTGCAGGATGTTA 0.557 KCNK10 54207 broad.mit.edu 37 14 88652226 88652226 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr14:88652226G>A uc001xwo.2 - 7 1727 c.1270C>T c.(1270-1272)CGC>TGC p.R424C KCNK10_uc001xwm.2_Missense_Mutation_p.R429C|KCNK10_uc001xwn.2_Missense_Mutation_p.R429C NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 424 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 CCCTTCAGGCGCAGGTTGTTG 0.607 MTMR15 22909 broad.mit.edu 37 15 31197005 31197005 + Missense_Mutation SNP T C C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr15:31197005T>C uc001zff.2 + 2 430 c.139T>C c.(139-141)TGC>CGC p.C47R MTMR15_uc001zfc.3_Missense_Mutation_p.C47R|MTMR15_uc010azw.2_Missense_Mutation_p.C47R|MTMR15_uc001zfd.3_Missense_Mutation_p.C47R|MTMR15_uc001zfe.2_5'UTR NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 47 UBZ-type. C->A: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-44. double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) CTGCCCCGTTTGCAGTAAAAT 0.403 Direct_reversal_of_damage|Editing_and_processing_nucleases AXIN1 8312 broad.mit.edu 37 16 339599 339599 + Nonsense_Mutation SNP G T T rs138816818 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr16:339599G>T uc002cgp.1 - 10 2480 c.2303C>A c.(2302-2304)TCG>TAG p.S768* AXIN1_uc002cgq.1_Nonsense_Mutation_p.S732* NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 768 Interaction with PPP2CA. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CTTCCTCTGCGATCTTGTCCT 0.637 ATF7IP2 80063 broad.mit.edu 37 16 10534246 10534246 + Missense_Mutation SNP G A A rs141687995 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr16:10534246G>A uc002czu.2 + 6 1348 c.1121G>A c.(1120-1122)CGT>CAT p.R374H ATF7IP2_uc002czv.2_Missense_Mutation_p.R374H|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.R374H|ATF7IP2_uc010uyq.1_RNA NM_024997 NP_079273 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting 374 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 CTTCAAAGACGTATTAAAACA 0.289 ACSM5 54988 broad.mit.edu 37 16 20442617 20442617 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr16:20442617C>T uc002dhe.2 + 10 1429 c.1282C>T c.(1282-1284)CCC>TCC p.P428S NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 428 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 ACCCACTCGGCCCTTCTGTTT 0.413 ITGAM 3684 broad.mit.edu 37 16 31308873 31308873 + Silent SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr16:31308873C>T uc002ebq.2 + 13 1493 c.1395C>T c.(1393-1395)GAC>GAT p.D465D ITGAM_uc002ebr.2_Silent_p.D465D|ITGAM_uc010cam.1_Missense_Mutation_p.R69C|ITGAM_uc010can.2_Translation_Start_Site NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 465 FG-GAP 5.|Extracellular (Potential).|Potential. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 GCTCCGTGGACGTGGACAGCA 0.627 ZFHX3 463 broad.mit.edu 37 16 72821854 72821854 + Nonsense_Mutation SNP C A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr16:72821854C>A uc002fck.2 - 10 10994 c.10321G>T c.(10321-10323)GAG>TAG p.E3441* ZFHX3_uc002fcl.2_Nonsense_Mutation_p.E2527* NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3441 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GCTTCTGGCTCTTCAGGGAGT 0.557 Unknown 0 broad.mit.edu 37 16 90160884 90160884 + Silent SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr16:90160884G>A uc002fqp.2 + 2 835 c.357G>A c.(355-357)CCG>CCA p.P119P uc002fqq.2_Intron Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA. TTCCCCCACCGCCCTCCTGGG 0.731 MYH1 4619 broad.mit.edu 37 17 10399320 10399320 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr17:10399320C>T uc002gmo.2 - 35 5210 c.5116G>A c.(5116-5118)GCA>ACA p.A1706T uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1706 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCCTGTTCTGCGATTTTCCTG 0.532 MYH2 4620 broad.mit.edu 37 17 10427956 10427956 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr17:10427956G>A uc010coi.2 - 35 5130 c.5002C>T c.(5002-5004)CGG>TGG p.R1668W uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1668W|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1668 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TCCTGGCTCCGGAGAGCATCA 0.572 ACACA 31 broad.mit.edu 37 17 35615262 35615262 + Missense_Mutation SNP C G G TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr17:35615262C>G uc002hnm.2 - 13 1614 c.1423G>C c.(1423-1425)GAT>CAT p.D475H ACACA_uc002hnk.2_Missense_Mutation_p.D397H|ACACA_uc002hnl.2_Missense_Mutation_p.D417H|ACACA_uc002hnn.2_Missense_Mutation_p.D475H|ACACA_uc002hno.2_Missense_Mutation_p.D512H|ACACA_uc010cuz.2_Missense_Mutation_p.D475H NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 475 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ATACGGATATCCTTGATTCTA 0.413 MKS1 54903 broad.mit.edu 37 17 56294074 56294074 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr17:56294074C>T uc002ivr.1 - 3 289 c.214G>A c.(214-216)GAA>AAA p.E72K MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Missense_Mutation_p.E72K NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 72 cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 TCCTCCTCTTCGTCTTCCTCT 0.483 CDR2L 30850 broad.mit.edu 37 17 73000053 73000053 + Missense_Mutation SNP C T T rs144796205 byFrequency TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr17:73000053C>T uc002jml.3 + 5 1694 c.1282C>T c.(1282-1284)CGG>TGG p.R428W NM_014603 NP_055418 Q86X02 CDR2L_HUMAN cerebellar degeneration-related protein 2-like 428 0 all_lung(278;0.226) CGTGGACAAGCGGCTGGAACA 0.612 ITGB4 3691 broad.mit.edu 37 17 73725429 73725429 + Missense_Mutation SNP G A A rs144968507 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr17:73725429G>A uc002jpg.2 + 7 837 c.650G>A c.(649-651)CGG>CAG p.R217Q ITGB4_uc002jph.2_Missense_Mutation_p.R217Q|ITGB4_uc010dgo.2_Missense_Mutation_p.R217Q|ITGB4_uc002jpi.3_Missense_Mutation_p.R217Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R217Q|ITGB4_uc002jpj.2_Missense_Mutation_p.R217Q|ITGB4_uc010wsh.1_5'Flank NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 217 VWFA.|Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GATGAGTTCCGGAATAAACTG 0.602 ROCK1 6093 broad.mit.edu 37 18 18547745 18547745 + Nonsense_Mutation SNP T A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr18:18547745T>A uc002kte.2 - 26 4101 c.3160A>T c.(3160-3162)AAA>TAA p.K1054* NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 1054 Potential. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TTCTGATGTTTCACTACCATC 0.353 CTAGE1 64693 broad.mit.edu 37 18 19996798 19996798 + Missense_Mutation SNP T A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr18:19996798T>A uc002ktv.1 - 1 1081 c.977A>T c.(976-978)AAT>ATT p.N326I NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 326 Potential. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGTCTGAAGATTTTTAATATG 0.308 DSC2 1824 broad.mit.edu 37 18 28673541 28673541 + Silent SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr18:28673541G>A uc002kwl.3 - 2 589 c.135C>T c.(133-135)GCC>GCT p.A45A DSC2_uc002kwk.3_Silent_p.A45A|DSC2_uc010xbo.1_Silent_p.A45A NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 45 homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CAAGTTTCTCGGCATCTAGTT 0.259 SMAD4 4089 broad.mit.edu 37 18 48604808 48604808 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr18:48604808C>T uc010xdp.1 + 12 2168 c.1630C>T c.(1630-1632)CCG>TCG p.P544S SMAD4_uc002lfb.3_Missense_Mutation_p.P389S NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 544 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TCATACCATGCCGATTGCAGA 0.458 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia SERPINB4 6318 broad.mit.edu 37 18 61305084 61305084 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr18:61305084C>T uc002ljf.2 - 8 1128 c.1042G>A c.(1042-1044)GCT>ACT p.A348T SERPINB4_uc002lje.2_Missense_Mutation_p.A327T|SERPINB4_uc002ljg.2_Missense_Mutation_p.A348T NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 348 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 ACTACTACAGCGGTGGCAGCT 0.468 FBN3 84467 broad.mit.edu 37 19 8190851 8190851 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr19:8190851C>T uc002mjf.2 - 21 2677 c.2656G>A c.(2656-2658)GTC>ATC p.V886I NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 886 EGF-like 11; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GCAGTGTTGACGCAACGCCCG 0.637 MUC16 94025 broad.mit.edu 37 19 9068764 9068764 + Missense_Mutation SNP G T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr19:9068764G>T uc002mkp.2 - 3 18886 c.18682C>A c.(18682-18684)CTT>ATT p.L6228I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6230 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTTGTCACAAGGAGAGGTGCC 0.478 RTBDN 83546 broad.mit.edu 37 19 12939705 12939705 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr19:12939705G>A uc002mvi.2 - 3 362 c.232C>T c.(232-234)CGC>TGC p.R78C RTBDN_uc002mvh.1_Missense_Mutation_p.R110C|RTBDN_uc002mvj.2_Missense_Mutation_p.R110C NM_001080997 NP_001074466 Q9BSG5 RTBDN_HUMAN retbindin isoform 1 78 extracellular region 0 ACTCCACAGCGTTCTGGATGG 0.582 GTPBP3 84705 broad.mit.edu 37 19 17450006 17450006 + Missense_Mutation SNP C A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr19:17450006C>A uc010eas.2 + 6 804 c.739C>A c.(739-741)CGC>AGC p.R247S GTPBP3_uc010xpo.1_Missense_Mutation_p.R269S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.R247S|GTPBP3_uc002ngg.3_Missense_Mutation_p.R279S|GTPBP3_uc002ngi.3_5'UTR NM_032620 NP_116009 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) isoform V 247 tRNA modification mitochondrion GTP binding|GTPase activity skin(1) 1 GCAGAGGCTCCGCTCAGGGGT 0.662 UBA52 7311 broad.mit.edu 37 19 18684123 18684123 + Missense_Mutation SNP G C C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr19:18684123G>C uc002njr.2 + 2 127 c.13G>C c.(13-15)GTG>CTG p.V5L UBA52_uc002njs.2_Missense_Mutation_p.V5L|UBA52_uc002njt.2_Missense_Mutation_p.V5L NM_001033930 NP_001029102 P62987 RL40_HUMAN ubiquitin and ribosomal protein L40 precursor 5 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome 0 GCAGATCTTTGTGAAGACCCT 0.517 ZNF787 126208 broad.mit.edu 37 19 56614551 56614551 + Silent SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr19:56614551C>T uc010eth.1 - 2 155 c.36G>A c.(34-36)CCG>CCA p.P12P ZNF787_uc002qml.1_Silent_p.P12P NM_001002836 NP_001002836 Q6DD87 ZN787_HUMAN zinc finger protein 787 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) CAGAATCCAGCGGCCCCGGAG 0.632 ZFP28 140612 broad.mit.edu 37 19 57060380 57060380 + Missense_Mutation SNP G A A rs142184982 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr19:57060380G>A uc002qnj.2 + 5 648 c.577G>A c.(577-579)GAA>AAA p.E193K ZFP28_uc002qni.2_Missense_Mutation_p.E193K|uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GGACTTCTGCGAAGGAAAGCT 0.413 NRXN1 9378 broad.mit.edu 37 2 50765581 50765581 + Silent SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr2:50765581G>A uc010fbq.2 - 10 3550 c.2073C>T c.(2071-2073)GGC>GGT p.G691G NRXN1_uc002rxb.3_Silent_p.G323G|NRXN1_uc002rxe.3_Silent_p.G651G|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTTTGCTTTGGCCATCGATGA 0.502 PSD4 23550 broad.mit.edu 37 2 113940279 113940279 + Silent SNP C T T rs147089589 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr2:113940279C>T uc002tjc.2 + 2 429 c.246C>T c.(244-246)GAC>GAT p.D82D PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Silent_p.D81D|PSD4_uc002tjf.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 82 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 TCCATCAGGACGGGCTGGAGC 0.622 SLC4A10 57282 broad.mit.edu 37 2 162815003 162815003 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr2:162815003C>T uc002ubx.3 + 21 2984 c.2800C>T c.(2800-2802)CCC>TCC p.P934S SLC4A10_uc002uby.3_Missense_Mutation_p.P904S|SLC4A10_uc010zcs.1_Missense_Mutation_p.P915S NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 934 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 ACAGTTTATTCCCATGCCAGT 0.343 TTN 7273 broad.mit.edu 37 2 179469893 179469893 + Missense_Mutation SNP T G G TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr2:179469893T>G uc010zfg.1 - 229 46531 c.46307A>C c.(46306-46308)GAA>GCA p.E15436A uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E9131A|TTN_uc010zfi.1_Missense_Mutation_p.E9064A|TTN_uc010zfj.1_Missense_Mutation_p.E8939A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16363 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTACAGTTTCATTTTTGGA 0.468 ZNF804A 91752 broad.mit.edu 37 2 185802437 185802437 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr2:185802437C>T uc002uph.2 + 4 2908 c.2314C>T c.(2314-2316)CGT>TGT p.R772C NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 772 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CTATCGAAAACGTAGACAACA 0.343 NBEAL1 65065 broad.mit.edu 37 2 204000539 204000539 + Missense_Mutation SNP T C C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr2:204000539T>C uc002uzt.3 + 27 4199 c.3866T>C c.(3865-3867)GTT>GCT p.V1289A NBEAL1_uc002uzs.3_5'UTR NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1289 binding ovary(1)|skin(1) 2 AGTAGAGCTGTTTTAATGAAA 0.343 MRPS26 64949 broad.mit.edu 37 20 3027090 3027090 + Frame_Shift_Del DEL C - - TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr20:3027090delC uc002whs.2 + 2 324 c.284delC c.(283-285)GCCfs p.A95fs NM_030811 NP_110438 Q9BYN8 RT26_HUMAN mitochondrial ribosomal protein S26 precursor 95 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit 0 GAGCGCAAGGCCCTGAAGGAC 0.627 SNX21 90203 broad.mit.edu 37 20 44469563 44469563 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr20:44469563C>T uc002xpv.1 + 4 822 c.733C>T c.(733-735)CGG>TGG p.R245W SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R56W|SNX21_uc002xpx.2_Missense_Mutation_p.R235W|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R56W|SNX21_uc002xpz.1_Missense_Mutation_p.R56W NM_033421 NP_219489 Q969T3 SNX21_HUMAN sorting nexin 21 isoform a 245 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding breast(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) GCCGGAGCTGCGGCGGGCACA 0.662 PREX1 57580 broad.mit.edu 37 20 47276521 47276521 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr20:47276521C>T uc002xtw.1 - 16 1840 c.1817G>A c.(1816-1818)AGC>AAC p.S606N NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 606 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TTTGTTCTTGCTGCTGGTCCC 0.562 TBC1D22A 25771 broad.mit.edu 37 22 47507479 47507479 + Missense_Mutation SNP C G G TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr22:47507479C>G uc003bib.2 + 12 1540 c.1405C>G c.(1405-1407)CTA>GTA p.L469V TBC1D22A_uc010haf.2_Missense_Mutation_p.L439V|TBC1D22A_uc003bic.2_Missense_Mutation_p.L410V|TBC1D22A_uc003bie.2_Missense_Mutation_p.L391V|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.L422V NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 469 intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GAAGGAAATACTAGAAGAAAA 0.368 TRAK1 22906 broad.mit.edu 37 3 42242538 42242538 + Silent SNP C T T rs143049389 byFrequency TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr3:42242538C>T uc003cky.2 + 12 1635 c.1419C>T c.(1417-1419)GCC>GCT p.A473A TRAK1_uc011azh.1_Silent_p.A473A|TRAK1_uc011azi.1_Silent_p.A473A|TRAK1_uc003ckz.3_Silent_p.A399A|TRAK1_uc011azj.1_Silent_p.A399A|TRAK1_uc003cla.2_Silent_p.A415A NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 473 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 CAGAGGCAGCCGACCTGGGGT 0.542 CADM2 253559 broad.mit.edu 37 3 85932587 85932587 + Missense_Mutation SNP G A A rs138383256 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr3:85932587G>A uc003dqj.2 + 3 984 c.358G>A c.(358-360)GTT>ATT p.V120I CADM2_uc003dqk.2_Missense_Mutation_p.V129I|CADM2_uc003dql.2_Missense_Mutation_p.V122I NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 120 Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ATATCTCACCGTTCTGGGTAA 0.358 MYLK 4638 broad.mit.edu 37 3 123333123 123333123 + Silent SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr3:123333123G>A uc003ego.2 - 34 5856 c.5574C>T c.(5572-5574)GAC>GAT p.D1858D uc003egk.2_Intron|MYLK_uc003egl.2_Silent_p.D98D|MYLK_uc003egm.2_Silent_p.D97D|MYLK_uc010hrr.2_Silent_p.D293D|MYLK_uc011bjv.1_Silent_p.D658D|MYLK_uc011bjw.1_Silent_p.D1857D|MYLK_uc003egp.2_Silent_p.D1789D|MYLK_uc003egq.2_Silent_p.D1807D|MYLK_uc003egr.2_Silent_p.D1738D|MYLK_uc003egs.2_Silent_p.D1682D NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1858 Ig-like C2-type 9. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTCATCGTAGTCTATCTGGA 0.502 ZBBX 79740 broad.mit.edu 37 3 167035369 167035369 + Missense_Mutation SNP G C C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr3:167035369G>C uc003fep.2 - 13 1323 c.1000C>G c.(1000-1002)CTT>GTT p.L334V ZBBX_uc011bpc.1_Missense_Mutation_p.L334V|ZBBX_uc003feq.2_Missense_Mutation_p.L305V NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 334 intracellular zinc ion binding ovary(2) 2 ATTTTAAAAAGTTGCTCTTGT 0.348 ABCC5 10057 broad.mit.edu 37 3 183665139 183665139 + Silent SNP C A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr3:183665139C>A uc003fmg.2 - 23 3552 c.3387G>T c.(3385-3387)GCG>GCT p.A1129A ABCC5_uc011bqt.1_Silent_p.A657A|ABCC5_uc010hxl.2_Silent_p.A1086A NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1129 ABC transmembrane type-1 2.|Helical; (Potential). integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGGCGAGACCCGCATAGGCTG 0.567 EIF4G1 1981 broad.mit.edu 37 3 184044341 184044341 + Silent SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr3:184044341G>A uc003fnp.2 + 22 3447 c.3249G>A c.(3247-3249)CAG>CAA p.Q1083Q EIF4G1_uc003fnt.2_Silent_p.Q794Q|EIF4G1_uc003fnq.2_Silent_p.Q996Q|EIF4G1_uc003fnr.2_Silent_p.Q919Q|EIF4G1_uc010hxx.2_Silent_p.Q1090Q|EIF4G1_uc003fns.2_Silent_p.Q1043Q|EIF4G1_uc010hxy.2_Silent_p.Q1090Q|EIF4G1_uc003fnv.3_Silent_p.Q1084Q|EIF4G1_uc003fnu.3_Silent_p.Q1083Q|EIF4G1_uc003fnw.2_Silent_p.Q1090Q|EIF4G1_uc003fnx.2_Silent_p.Q888Q|EIF4G1_uc003fny.3_Silent_p.Q887Q|EIF4G1_uc003foa.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1083 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTAACAACCAGCTCTTTGCAC 0.587 CCDC96 257236 broad.mit.edu 37 4 7043696 7043696 + Nonsense_Mutation SNP C A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr4:7043696C>A uc003gjv.2 - 1 1033 c.970G>T c.(970-972)GAG>TAG p.E324* TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 324 Potential. 0 CACTCCTTCTCCACCCTGGTG 0.642 FGFBP1 9982 broad.mit.edu 37 4 15937922 15937922 + Missense_Mutation SNP A G G TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr4:15937922A>G uc003gom.2 - 2 452 c.334T>C c.(334-336)TAT>CAT p.Y112H NM_005130 NP_005121 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 112 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding 0 TGTTTCCAATAGACTCTCTCA 0.448 ARAP2 116984 broad.mit.edu 37 4 36168644 36168644 + Missense_Mutation SNP G C C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr4:36168644G>C uc003gsq.1 - 10 2221 c.1883C>G c.(1882-1884)ACC>AGC p.T628S ARAP2_uc003gsr.1_Missense_Mutation_p.T628S NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 628 PH 2. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AGGAATTATGGTAATACCAAG 0.294 RBM47 54502 broad.mit.edu 37 4 40440352 40440352 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr4:40440352C>T uc003gvc.2 - 4 1269 c.559G>A c.(559-561)GCG>ACG p.A187T RBM47_uc003gvd.2_Missense_Mutation_p.A187T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.A149T|RBM47_uc003gvg.1_Missense_Mutation_p.A187T NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 187 RRM 2. nucleus nucleotide binding|RNA binding breast(3) 3 TTGTCGGCCGCGCTGGCGTAG 0.637 TMEM150C 441027 broad.mit.edu 37 4 83417295 83417295 + Missense_Mutation SNP G T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr4:83417295G>T uc003hmy.1 - 6 367 c.289C>A c.(289-291)CCG>ACG p.P97T TMEM150C_uc011ccj.1_Missense_Mutation_p.P127T NM_001080506 NP_001073975 B9EJG8 T150C_HUMAN transmembrane protein 150C 97 integral to membrane ovary(1) 1 TTCAGCCACGGGTTTAAAACC 0.418 ENPEP 2028 broad.mit.edu 37 4 111430927 111430927 + Missense_Mutation SNP G T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr4:111430927G>T uc003iab.3 + 5 1500 c.1158G>T c.(1156-1158)AGG>AGT p.R386S NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 386 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ACCAACAGAGGGTGGCCACTG 0.453 ALPK1 80216 broad.mit.edu 37 4 113353567 113353567 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr4:113353567G>A uc003iap.3 + 11 3143 c.2864G>A c.(2863-2865)GGG>GAG p.G955E ALPK1_uc003ian.3_Missense_Mutation_p.G955E|ALPK1_uc011cfx.1_Missense_Mutation_p.G877E|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.G783E NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 955 Ser-rich. ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AATTCCAGTGGGAGTTCTTGG 0.512 PPID 5481 broad.mit.edu 37 4 159638287 159638287 + Missense_Mutation SNP A C C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr4:159638287A>C uc003iqc.2 - 4 511 c.399T>G c.(397-399)TTT>TTG p.F133L NM_005038 NP_005029 Q08752 PPID_HUMAN peptidylprolyl isomerase D 133 PPIase cyclophilin-type. protein folding cytoplasm|intermediate filament cytoskeleton cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0159) CTGTTGTGATAAAAAACTGAG 0.403 TUBB4Q 56604 broad.mit.edu 37 4 190903815 190903815 + Missense_Mutation SNP G A A rs17799221 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr4:190903815G>A uc011clg.1 - 4 1168 c.1165C>T c.(1165-1167)CGC>TGC p.R389C NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 390 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) AAGGCCTTGCGCCTGAACGTT 0.547 PIK3R1 5295 broad.mit.edu 37 5 67591085 67591085 + Missense_Mutation SNP G C C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr5:67591085G>C uc003jva.2 + 13 2238 c.1678G>C c.(1678-1680)GAC>CAC p.D560H PIK3R1_uc003jvb.2_Missense_Mutation_p.D560H|PIK3R1_uc003jvc.2_Missense_Mutation_p.D260H|PIK3R1_uc003jvd.2_Missense_Mutation_p.D290H|PIK3R1_uc003jve.2_Missense_Mutation_p.D239H|PIK3R1_uc011crb.1_Missense_Mutation_p.D230H NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 560 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)|p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TCGAGAAATTGACAAACGTAT 0.358 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) MCTP1 79772 broad.mit.edu 37 5 94288921 94288921 + Splice_Site SNP A G G TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr5:94288921A>G uc003kkx.2 - 3 981 c.981_splice c.e3+1 p.K327_splice MCTP1_uc003kkv.2_Splice_Site_p.K106_splice|MCTP1_uc003kkw.2_Splice_Site_p.K106_splice|MCTP1_uc003kkz.2_Splice_Site NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TAAATGGCTCACCTTTATATA 0.363 YIPF5 81555 broad.mit.edu 37 5 143540055 143540055 + Missense_Mutation SNP A C C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr5:143540055A>C uc003lnk.3 - 6 1121 c.680T>G c.(679-681)TTT>TGT p.F227C YIPF5_uc003lnl.3_Missense_Mutation_p.F227C|YIPF5_uc010jgl.2_Missense_Mutation_p.F173C NM_001024947 NP_001020118 Q969M3 YIPF5_HUMAN Yip1 domain family, member 5 227 Cytoplasmic (Potential). protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane ovary(1)|skin(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TGCAGAAATAAATATTTTGGA 0.388 FAT2 2196 broad.mit.edu 37 5 150921921 150921921 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr5:150921921C>T uc003lue.3 - 9 8780 c.8767G>A c.(8767-8769)GAA>AAA p.E2923K GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2923 Extracellular (Potential).|Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCACCAGTTCGCCAGGCTCA 0.512 TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG - - TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr5:156378745_156378747delTTG uc003lwh.2 - 3 512_514 c.455_457delCAA c.(454-459)ACAAGC>AGC p.T152del TIMD4_uc010jii.2_In_Frame_Del_p.T152del NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 152 Extracellular (Potential).|Thr-rich. integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 BTN3A2 11118 broad.mit.edu 37 6 26373202 26373202 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr6:26373202G>A uc010jqh.1 + 6 1052 c.793G>A c.(793-795)GGA>AGA p.G265R BTN3A2_uc003nho.1_Missense_Mutation_p.G263R|BTN3A2_uc003nhp.2_Missense_Mutation_p.G265R|BTN3A2_uc011dkd.1_Missense_Mutation_p.G223R|BTN3A2_uc011dke.1_Missense_Mutation_p.G242R|BTN3A2_uc010jqi.1_Missense_Mutation_p.G263R NM_007047 NP_008978 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 precursor 265 Helical; (Potential). integral to membrane 0 GCTTCTCGCCGGAGCCAGTTA 0.542 PRSS35 167681 broad.mit.edu 37 6 84234218 84234218 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr6:84234218G>A uc003pjz.2 + 2 1221 c.1058G>A c.(1057-1059)CGT>CAT p.R353H PRSS35_uc010kbm.2_Missense_Mutation_p.R353H NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 353 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GTCTATCTGCGTCTGAAAGAT 0.512 REPS1 85021 broad.mit.edu 37 6 139251126 139251126 + Frame_Shift_Del DEL A - - TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr6:139251126delA uc003qii.2 - 9 1824 c.1245delT c.(1243-1245)AATfs p.N415fs REPS1_uc003qig.3_Frame_Shift_Del_p.N415fs|REPS1_uc011edr.1_Frame_Shift_Del_p.N415fs|REPS1_uc003qij.2_Frame_Shift_Del_p.N415fs|REPS1_uc003qik.2_Frame_Shift_Del_p.N48fs NM_031922 NP_114128 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 415 coated pit|plasma membrane calcium ion binding|SH3 domain binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) CACTGCTCTGATTCAGCTCAG 0.448 OPRM1 4988 broad.mit.edu 37 6 154412222 154412222 + Missense_Mutation SNP G A A rs1799974 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr6:154412222G>A uc003qpr.2 + 3 1016 c.779G>A c.(778-780)CGC>CAC p.R260H OPRM1_uc011efc.1_Missense_Mutation_p.R179H|OPRM1_uc011efd.1_Missense_Mutation_p.R160H|OPRM1_uc011efe.1_Missense_Mutation_p.R353H|OPRM1_uc003qpn.2_Missense_Mutation_p.R260H|OPRM1_uc003qpo.1_Missense_Mutation_p.R260H|OPRM1_uc011eff.1_Missense_Mutation_p.R260H|OPRM1_uc011efg.1_Missense_Mutation_p.R260H|OPRM1_uc011efh.1_Missense_Mutation_p.R260H|OPRM1_uc003qpq.1_Missense_Mutation_p.R260H|OPRM1_uc003qpt.1_Missense_Mutation_p.R260H|OPRM1_uc011efi.1_Missense_Mutation_p.R260H|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.R160H|OPRM1_uc003qpu.2_Missense_Mutation_p.R160H NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 260 Cytoplasmic (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) ATGATCTTGCGCCTCAAGAGT 0.502 RABGEF1 27342 broad.mit.edu 37 7 66240254 66240254 + Missense_Mutation SNP A T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr7:66240254A>T uc011kee.1 + 3 426 c.262A>T c.(262-264)AGC>TGC p.S88C RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.S74C|RABGEF1_uc003tvh.2_Missense_Mutation_p.S74C|RABGEF1_uc003tvi.2_5'UTR NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 252 Interaction with ubiquitinated proteins. endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 CAGCAGTCAGAGCAGCCAAGG 0.473 PPP1R3A 5506 broad.mit.edu 37 7 113519322 113519322 + Missense_Mutation SNP C T T rs144397367 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr7:113519322C>T uc010ljy.1 - 4 1856 c.1825G>A c.(1825-1827)GCT>ACT p.A609T NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 609 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 CCTCCTAAAGCGCTGCCTTCA 0.403 TRY6 154754 broad.mit.edu 37 7 142479940 142479940 + Silent SNP C T T rs58649169 by1000genomes TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr7:142479940C>T uc011ksq.1 + 2 155 c.72C>T c.(70-72)ATC>ATT p.I24I uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_RNA|uc003wan.1_Intron|TRY6_uc011kso.1_RNA|TRY6_uc011ksr.1_RNA NR_001296 SubName: Full=Protease, serine, 3; Flags: Fragment; 0 ATGACAAGATCGTTGGGGGCT 0.557 ZNF786 136051 broad.mit.edu 37 7 148769373 148769373 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr7:148769373C>T uc003wfh.2 - 4 628 c.491G>A c.(490-492)GGA>GAA p.G164E ZNF786_uc011kuk.1_Missense_Mutation_p.G127E|ZNF786_uc003wfi.2_Missense_Mutation_p.G78E NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACCTGGGATTCCTTCTTTTAG 0.617 KRBA1 84626 broad.mit.edu 37 7 149427522 149427522 + Silent SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr7:149427522G>A uc003wfz.2 + 16 2409 c.2010G>A c.(2008-2010)AGG>AGA p.R670R KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.R277R NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 670 Pro-rich. ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGTTAGAGAGGGACCGCCTTC 0.642 NSMAF 8439 broad.mit.edu 37 8 59512581 59512581 + Splice_Site SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr8:59512581C>T uc003xtt.2 - 17 1495 c.1281_splice c.e17-1 p.S427_splice NSMAF_uc011lee.1_Splice_Site_p.S458_splice NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) TTCTGCAATACTACATATGAA 0.269 PKHD1L1 93035 broad.mit.edu 37 8 110497284 110497284 + Silent SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr8:110497284G>A uc003yne.2 + 58 9692 c.9588G>A c.(9586-9588)GAG>GAA p.E3196E NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3196 Extracellular (Potential). 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) AGGGAGAAGAGATTGTGATAA 0.284 HNSCC(38;0.096) TRPS1 7227 broad.mit.edu 37 8 116426785 116426785 + Missense_Mutation SNP G T T rs145393309 TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr8:116426785G>T uc003ynz.2 - 6 3771 c.3312C>A c.(3310-3312)TTC>TTA p.F1104L TRPS1_uc011lhy.1_Missense_Mutation_p.F1108L|TRPS1_uc003yny.2_Missense_Mutation_p.F1117L|TRPS1_uc010mcy.2_Missense_Mutation_p.F1104L NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1104 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F1104F(1) ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTTCACTCTGGAAGTCATTAT 0.473 Langer-Giedion_syndrome COL14A1 7373 broad.mit.edu 37 8 121293282 121293282 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr8:121293282G>A uc003yox.2 + 31 4073 c.3808G>A c.(3808-3810)GTT>ATT p.V1270I COL14A1_uc003yoz.2_Missense_Mutation_p.V235I NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1270 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AGATGCCCTGGTTTCCCAGCC 0.378 TUBBP5 643224 broad.mit.edu 37 9 141071110 141071110 + Silent SNP A G G TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chr9:141071110A>G uc004com.2 + 4 774 c.513A>G c.(511-513)CCA>CCG p.P171P TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TGCGCTTCCCAGGCCAGCTGA 0.597 POLA1 5422 broad.mit.edu 37 X 24766501 24766501 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:24766501G>A uc004dbl.2 + 25 2770 c.2747G>A c.(2746-2748)CGG>CAG p.R916Q NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 916 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) AGAGAGATCCGGAAACTGGTA 0.284 MAGEB2 4113 broad.mit.edu 37 X 30236767 30236767 + Missense_Mutation SNP G T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:30236767G>T uc004dbz.2 + 2 173 c.70G>T c.(70-72)GGT>TGT p.G24C NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 24 protein binding ovary(1) 1 TGAGACCCGGGGTCTCAATGT 0.577 MAGEB4 4115 broad.mit.edu 37 X 30260607 30260607 + Missense_Mutation SNP T A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:30260607T>A uc004dcb.2 + 1 439 c.355T>A c.(355-357)TTC>ATC p.F119I MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 119 MAGE. ovary(1) 1 GTTAGTGCAGTTCCTGCTGTA 0.443 DMD 1756 broad.mit.edu 37 X 32404521 32404521 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:32404521C>T uc004dda.1 - 33 4824 c.4580G>A c.(4579-4581)CGT>CAT p.R1527H DMD_uc004dcw.2_Missense_Mutation_p.R183H|DMD_uc004dcx.2_Missense_Mutation_p.R186H|DMD_uc004dcz.2_Missense_Mutation_p.R1404H|DMD_uc004dcy.1_Missense_Mutation_p.R1523H|DMD_uc004ddb.1_Missense_Mutation_p.R1519H|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1527 Spectrin 10.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TACAATCTGACGTCCAGTCTT 0.353 OTC 5009 broad.mit.edu 37 X 38260580 38260580 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:38260580G>A uc004def.3 + 5 653 c.439G>A c.(439-441)GAT>AAT p.D147N NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor 147 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) TAAACAATCAGATTTGGACAC 0.408 MAGED1 9500 broad.mit.edu 37 X 51640084 51640084 + Missense_Mutation SNP T A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:51640084T>A uc004dpm.2 + 4 1428 c.1333T>A c.(1333-1335)TCG>ACG p.S445T MAGED1_uc004dpn.2_Missense_Mutation_p.S501T|MAGED1_uc004dpo.2_Missense_Mutation_p.S445T NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 445 Pro-rich. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) CCTGCGCCCCTCGCCTAACCT 0.602 Multiple Myeloma(10;0.10) CDX4 1046 broad.mit.edu 37 X 72667161 72667161 + Silent SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:72667161C>T uc011mqk.1 + 1 72 c.72C>T c.(70-72)GAC>GAT p.D24D NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 24 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) CTGGGGGCGACGGCACAGCTG 0.612 PCDH19 57526 broad.mit.edu 37 X 99662512 99662512 + Missense_Mutation SNP C T T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:99662512C>T uc010nmz.2 - 1 2760 c.1084G>A c.(1084-1086)GCC>ACC p.A362T PCDH19_uc004efw.3_Missense_Mutation_p.A362T|PCDH19_uc004efx.3_Missense_Mutation_p.A362T NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 362 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CCCGGGGGGGCGCTCTCGCTG 0.607 DDX26B 203522 broad.mit.edu 37 X 134681139 134681139 + Missense_Mutation SNP G A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:134681139G>A uc004eyw.3 + 6 1054 c.691G>A c.(691-693)GTA>ATA p.V231I NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 231 0 Acute lymphoblastic leukemia(192;6.56e-05) TCAGAGTGGTGTAGTTATTAA 0.338 CSAG1 158511 broad.mit.edu 37 X 151908921 151908921 + Missense_Mutation SNP C A A TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:151908921C>A uc004fge.2 + 4 488 c.160C>A c.(160-162)CCA>ACA p.P54T CSAG1_uc004fgf.2_Missense_Mutation_p.P54T|CSAG1_uc004fgd.2_RNA NM_153478 NP_705611 Q6PB30 CSAG1_HUMAN chondrosarcoma associated gene 1 precursor 54 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CCCATCAACACCAAAGAGGCG 0.557 G6PD 2539 broad.mit.edu 37 X 153760436 153760436 + Missense_Mutation SNP T C C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 52dd150e-abd7-4fd2-abe9-09428c5a610c 1a247427-ee89-4549-b07c-21afee78cb17 g.chrX:153760436T>C uc004fly.1 - 12 1537 c.1424A>G c.(1423-1425)GAG>GGG p.E475G G6PD_uc004flx.1_Missense_Mutation_p.E505G NM_001042351 NP_001035810 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase isoform b 475 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity ovary(4) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTTGGGCTTCTCCAGCTCAAT 0.627