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 PRAMEF10 343071 broad.mit.edu 37 1 12955489 12955489 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:12955489G>A uc001auo.2 - 2 263 c.190C>T c.(190-192)CTC>TTC p.L64F NM_001039361 NP_001034450 O60809 PRA10_HUMAN PRAME family member 10 64 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCCAGAGGGAGGCTGAGGAAG 0.587 CASP9 842 broad.mit.edu 37 1 15844698 15844698 + Missense_Mutation SNP C A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:15844698C>A uc001awn.2 - 2 420 c.325G>T c.(325-327)GTG>TTG p.V109L CASP9_uc001awm.1_Missense_Mutation_p.V109L|CASP9_uc001awo.2_Missense_Mutation_p.V109L|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_Intron|CASP9_uc010obm.1_Missense_Mutation_p.V26L|CASP9_uc001awq.2_Missense_Mutation_p.V26L NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 109 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) CTGAGCACCACTGGGGTAAGG 0.517 MST1P9 11223 broad.mit.edu 37 1 17085042 17085042 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:17085042C>T uc010ock.1 - 11 1433 c.1433G>A c.(1432-1434)CGG>CAG p.R478Q CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Missense_Mutation_p.R52Q NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 CTGATCCAGCCGATCCACCCT 0.607 MYOM3 127294 broad.mit.edu 37 1 24409117 24409117 + Silent SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:24409117G>A uc001bin.3 - 17 2221 c.2058C>T c.(2056-2058)GCC>GCT p.A686A MYOM3_uc001bim.3_Silent_p.A343A|MYOM3_uc001bio.2_Silent_p.A686A|MYOM3_uc001bip.1_3'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 686 Fibronectin type-III 3. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCTCGGTGGCGGCTGAGCTCT 0.622 C8B 732 broad.mit.edu 37 1 57425758 57425758 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:57425758G>A uc001cyp.2 - 2 251 c.184C>T c.(184-186)CCC>TCC p.P62S C8B_uc010oon.1_5'UTR|C8B_uc010ooo.1_Missense_Mutation_p.P10S NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 62 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 CAATCAATGGGCATCAGGGTA 0.498 DEPDC1 55635 broad.mit.edu 37 1 68948414 68948414 + Silent SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:68948414T>C uc001dem.3 - 8 1194 c.1077A>G c.(1075-1077)TCA>TCG p.S359S DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Intron NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN DEP domain containing 1 isoform a 359 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CAGTAGAATCTGATTCTTCTT 0.343 MAGI3 260425 broad.mit.edu 37 1 114225544 114225544 + Silent SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:114225544G>A uc001edk.2 + 21 3535 c.3354G>A c.(3352-3354)TCG>TCA p.S1118S MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 1143 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAATCCTTCGTCTTCAAATG 0.318 AQP10 89872 broad.mit.edu 37 1 154296100 154296100 + Missense_Mutation SNP G C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:154296100G>C uc001feu.2 + 5 565 c.525G>C c.(523-525)TTG>TTC p.L175F AQP10_uc001fev.2_Missense_Mutation_p.L175F|ATP8B2_uc001few.2_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN aquaporin 10 175 Helical; (Potential). response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1) 1 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGGGGCTCTTGGCCATCCTGG 0.607 MPZL1 9019 broad.mit.edu 37 1 167734984 167734984 + Missense_Mutation SNP T G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:167734984T>G uc001geo.2 + 2 458 c.256T>G c.(256-258)TCG>GCG p.S86A MPZL1_uc001gen.3_Missense_Mutation_p.S86A|MPZL1_uc001gep.2_Missense_Mutation_p.S86A|MPZL1_uc001geq.2_Missense_Mutation_p.S86A|MPZL1_uc009wvh.2_RNA NM_003953 NP_003944 O95297 MPZL1_HUMAN myelin protein zero-like 1 isoform a 86 Extracellular (Potential).|Ig-like V-type. cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity ovary(2) 2 all_hematologic(923;0.215) CACTACTGTGTCGGTAAGAAT 0.483 JMJD4 65094 broad.mit.edu 37 1 227922480 227922480 + Missense_Mutation SNP C A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:227922480C>A uc001hrb.2 - 2 438 c.438G>T c.(436-438)CAG>CAT p.Q146H SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.2_Missense_Mutation_p.Q146H NM_023007 NP_075383 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 isoform 1 146 0 Prostate(94;0.0885) AGTTGTATTCCTGGACCCCAC 0.552 ITGA8 8516 broad.mit.edu 37 10 15701007 15701007 + Silent SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr10:15701007C>T uc001ioc.1 - 10 939 c.939G>A c.(937-939)ACG>ACA p.T313T ITGA8_uc010qcb.1_Silent_p.T298T NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 313 Extracellular (Potential).|FG-GAP 5. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CCTGTTCTCCCGTGAAATTCT 0.303 PTCHD3 374308 broad.mit.edu 37 10 27702997 27702997 + Silent SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr10:27702997C>T uc001itu.2 - 1 301 c.183G>A c.(181-183)GCG>GCA p.A61A NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 61 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CCTGCTCCGACGCCAGGGGTC 0.687 PTEN 5728 broad.mit.edu 37 10 89717691 89717691 + Missense_Mutation SNP T G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr10:89717691T>G uc001kfb.2 + 8 1747 c.716T>G c.(715-717)ATG>AGG p.M239R NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 239 C2 tensin-type. 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.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.M239fs*4(1)|p.?(1)|p.G165_K342del(1)|p.R234fs*9(1)|p.K237_Y240>N(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) GACAAGTTCATGTACTTTGAG 0.413 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) NFKB2 4791 broad.mit.edu 37 10 104156679 104156679 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr10:104156679C>T uc001kvb.2 + 6 527 c.262C>T c.(262-264)CCA>TCA p.P88S NFKB2_uc001kva.2_Missense_Mutation_p.P88S|NFKB2_uc010qqk.1_Missense_Mutation_p.P88S|NFKB2_uc001kvd.2_Missense_Mutation_p.P88S|NFKB2_uc009xxc.2_Missense_Mutation_p.P88S NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 88 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CTACGAGGGACCAGCCAAGAT 0.602 T IGH@ B-NHL LRRC56 115399 broad.mit.edu 37 11 554078 554078 + Silent SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:554078T>C uc010qvz.1 + 14 1936 c.1431T>C c.(1429-1431)CGT>CGC p.R477R NM_198075 NP_932341 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 477 skin(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAGGGGGCGTCGGCTCCGAG 0.697 WEE1 7465 broad.mit.edu 37 11 9608358 9608358 + Missense_Mutation SNP G C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:9608358G>C uc001mhs.2 + 10 1995 c.1742G>C c.(1741-1743)CGA>CCA p.R581P WEE1_uc001mht.2_Missense_Mutation_p.R367P NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 581 blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) GAACAATTACGAATAGAATTG 0.348 CHRM4 1132 broad.mit.edu 37 11 46407321 46407321 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:46407321C>T uc001nct.1 - 1 787 c.787G>A c.(787-789)GCC>ACC p.A263T NM_000741 NP_000732 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 263 Cytoplasmic (By similarity). cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity 0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TCCTCCCGGGCGGCCTCCCCG 0.682 OR8H3 390152 broad.mit.edu 37 11 55890095 55890095 + Missense_Mutation SNP T A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:55890095T>A uc001nii.1 + 1 247 c.247T>A c.(247-249)TTA>ATA p.L83I NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) ACCTAAAACCTTAGCGAACTT 0.438 OR5M11 219487 broad.mit.edu 37 11 56310099 56310099 + Missense_Mutation SNP A T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:56310099A>T uc010rjl.1 - 1 635 c.635T>A c.(634-636)ATC>AAC p.I212N NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CACCAAGACGATGGTGAGGGA 0.502 AHNAK 79026 broad.mit.edu 37 11 62297453 62297453 + Missense_Mutation SNP T A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:62297453T>A uc001ntl.2 - 5 4736 c.4436A>T c.(4435-4437)GAG>GTG p.E1479V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1479 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AGCTTTTATCTCTCCTTCTAC 0.418 PLCB3 5331 broad.mit.edu 37 11 64024115 64024115 + Silent SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:64024115C>T uc001nzb.2 + 10 891 c.891C>T c.(889-891)AGC>AGT p.S297S PLCB3_uc009ypg.1_Silent_p.S297S|PLCB3_uc009yph.1_Silent_p.S230S|PLCB3_uc009ypi.2_Silent_p.S297S NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 297 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 AGGGCTTTAGCCGCTACCTGG 0.632 ATG2A 23130 broad.mit.edu 37 11 64668368 64668368 + Missense_Mutation SNP T G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:64668368T>G uc001obx.2 - 30 4431 c.4316A>C c.(4315-4317)CAC>CCC p.H1439P ATG2A_uc001obw.2_Missense_Mutation_p.H204P NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1439 protein binding ovary(1)|central_nervous_system(1) 2 GTGGCCGGGGTGGGGGCCAAA 0.388 TMPRSS4 56649 broad.mit.edu 37 11 117975409 117975409 + Missense_Mutation SNP G A A rs140457645 byFrequency TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:117975409G>A uc010rxo.1 + 5 605 c.314G>A c.(313-315)CGC>CAC p.R105H TMPRSS4_uc010rxp.1_Missense_Mutation_p.R105H|TMPRSS4_uc010rxq.1_5'UTR|TMPRSS4_uc010rxr.1_Missense_Mutation_p.R80H|TMPRSS4_uc010rxs.1_Missense_Mutation_p.R65H|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Missense_Mutation_p.R80H NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 isoform 1 105 Extracellular (Potential).|SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) CTCCCAGTCCGCCTCTCCAAG 0.587 C11orf63 79864 broad.mit.edu 37 11 122775064 122775064 + Missense_Mutation SNP A G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:122775064A>G uc001pym.2 + 3 1073 c.776A>G c.(775-777)AAC>AGC p.N259S C11orf63_uc001pyl.1_Missense_Mutation_p.N259S NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 259 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GTGGAAAAAAACAAGCTCACT 0.463 NR4A1 3164 broad.mit.edu 37 12 52451228 52451228 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:52451228G>A uc001rzs.2 + 7 1768 c.1454G>A c.(1453-1455)AGT>AAT p.S485N NR4A1_uc010sno.1_Missense_Mutation_p.S498N|NR4A1_uc001rzt.2_Missense_Mutation_p.S485N|NR4A1_uc009zmc.2_Missense_Mutation_p.V99I NM_002135 NP_002126 P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 485 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0967) TGGATTGACAGTATCCTGGCC 0.612 AGAP2 116986 broad.mit.edu 37 12 58124715 58124715 + Missense_Mutation SNP C A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:58124715C>A uc001spq.2 - 11 2167 c.2167G>T c.(2167-2169)GGC>TGC p.G723C AGAP2_uc001spp.2_Missense_Mutation_p.G723C|AGAP2_uc001spr.2_Missense_Mutation_p.G387C NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 723 PH. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 ATCTCCTTGCCGTGGGTACTG 0.582 TDG 6996 broad.mit.edu 37 12 104377129 104377129 + Missense_Mutation SNP T A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:104377129T>A uc001tkg.2 + 7 977 c.754T>A c.(754-756)TTT>ATT p.F252I TDG_uc009zuk.2_Missense_Mutation_p.F248I|TDG_uc010swi.1_Missense_Mutation_p.F109I|TDG_uc010swj.1_Missense_Mutation_p.F40I NM_003211 NP_003202 Q13569 TDG_HUMAN thymine-DNA glycosylase 252 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity ovary(3)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(302;0.00114) GAACTTGGAATTTGGGCTTCA 0.299 BER_DNA_glycosylases BTBD11 121551 broad.mit.edu 37 12 108010913 108010913 + Silent SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:108010913C>T uc001tmk.1 + 8 2570 c.2049C>T c.(2047-2049)GGC>GGT p.G683G BTBD11_uc009zut.1_Silent_p.G683G|BTBD11_uc001tmj.2_Silent_p.G683G|BTBD11_uc001tml.1_Silent_p.G220G NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 683 integral to membrane DNA binding skin(2)|ovary(1) 3 TGGAGCATGGCGAGGAGAACT 0.612 KSR2 283455 broad.mit.edu 37 12 117993076 117993076 + Silent SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:117993076T>C uc001two.2 - 9 1384 c.1329A>G c.(1327-1329)ACA>ACG p.T443T NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 472 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAACGGACTCTGTCCGGACTA 0.478 DIABLO 56616 broad.mit.edu 37 12 122702873 122702873 + Silent SNP G T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:122702873G>T uc010tab.1 - 4 1060 c.255C>A c.(253-255)ACC>ACA p.T85T DIABLO_uc010taa.1_Silent_p.T32T|DIABLO_uc010tac.1_Intron|DIABLO_uc010tad.1_Intron|VPS33A_uc001ucc.2_RNA NM_019887 NP_063940 Q9NR28 DBLOH_HUMAN diablo isoform 1 precursor 85 Missing (in Ref. 2; BAB71568). activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space protein binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223) GAAAGGTAGAGGTGCTATCTG 0.388 KNTC1 9735 broad.mit.edu 37 12 123014673 123014673 + Silent SNP T G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:123014673T>G uc001ucv.2 + 2 226 c.63T>G c.(61-63)GGT>GGG p.G21G KNTC1_uc010taf.1_Silent_p.G21G NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 21 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) TGAGTGTCGGTTCAAGAAAAG 0.403 GPR133 283383 broad.mit.edu 37 12 131593382 131593382 + Silent SNP G A A rs60880996 byFrequency TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:131593382G>A uc001uit.3 + 18 2560 c.2001G>A c.(1999-2001)TCG>TCA p.S667S GPR133_uc010tbm.1_Silent_p.S699S|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.S186S|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 667 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCTTTGGGTCGGAGGACAGCA 0.348 ERCC5 2073 broad.mit.edu 37 13 103514821 103514821 + Missense_Mutation SNP C T T rs112825485 TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr13:103514821C>T uc001vpw.2 + 8 1765 c.1322C>T c.(1321-1323)CCG>CTG p.P441L ERCC5_uc001vpu.1_Missense_Mutation_p.P895L|ERCC5_uc010tjb.1_Missense_Mutation_p.P441L|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.P273L NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 441 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AAAGGAATACCGTTTACTGCA 0.493 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum MYH7 4625 broad.mit.edu 37 14 23889445 23889446 + Splice_Site INS - G G rs45504498 TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr14:23889445_23889446insG uc001wjx.2 - 27 3443 c.3337_splice c.e27-1 p.A1113_splice MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GATGCGTGCCTGGTCAGACACA 0.545 MYH7 4625 broad.mit.edu 37 14 23898235 23898235 + Missense_Mutation SNP T G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr14:23898235T>G uc001wjx.2 - 14 1442 c.1336A>C c.(1336-1338)ACC>CCC p.T446P NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 446 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GTCTCCAGGGTGGCATTGATG 0.567 FSCB 84075 broad.mit.edu 37 14 44975414 44975414 + Silent SNP A G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr14:44975414A>G uc001wvn.2 - 1 1086 c.777T>C c.(775-777)CCT>CCC p.P259P NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 259 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CTGTTGATGGAGGCTCTATTT 0.458 SYT16 83851 broad.mit.edu 37 14 62541877 62541877 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr14:62541877G>A uc001xfu.1 + 3 958 c.761G>A c.(760-762)CGT>CAT p.R254H SYT16_uc010tsd.1_Missense_Mutation_p.R254H NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 254 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) AGCCAACGGCGTTATTCTGAG 0.428 MAP3K9 4293 broad.mit.edu 37 14 71216774 71216774 + Missense_Mutation SNP C A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr14:71216774C>A uc001xmm.2 - 4 1026 c.1026G>T c.(1024-1026)TTG>TTT p.L342F MAP3K9_uc010ttk.1_Missense_Mutation_p.L79F|MAP3K9_uc001xmk.2_Missense_Mutation_p.L36F|MAP3K9_uc001xml.2_Missense_Mutation_p.L342F NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 342 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CACCAGTCAGCAACTCCCAAA 0.488 CACNA1H 8912 broad.mit.edu 37 16 1270781 1270781 + Silent SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:1270781C>T uc002cks.2 + 35 7097 c.6849C>T c.(6847-6849)GAC>GAT p.D2283D CACNA1H_uc002ckt.2_Silent_p.D2277D|CACNA1H_uc002cku.2_Silent_p.D978D|CACNA1H_uc010brj.2_Silent_p.D994D|CACNA1H_uc002ckv.2_Silent_p.D972D NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 2283 Cytoplasmic (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CTTTCTTGGACGGTAGCCACA 0.652 ZNF263 10127 broad.mit.edu 37 16 3339529 3339529 + Silent SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:3339529G>A uc002cuq.2 + 6 1355 c.1023G>A c.(1021-1023)TCG>TCA p.S341S ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 341 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 ATGACCGGTCGCAAGGGGATT 0.632 IQCK 124152 broad.mit.edu 37 16 19729740 19729740 + Missense_Mutation SNP G C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:19729740G>C uc002dgr.2 + 2 811 c.112G>C c.(112-114)GAG>CAG p.E38Q IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.E38Q|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_5'UTR|C16orf88_uc002dgq.2_5'Flank NM_153208 NP_694940 Q8N0W5 IQCK_HUMAN IQ motif containing K 38 skin(1) 1 CGCGTCCCGCGAGCTGCCTGT 0.652 MVP 9961 broad.mit.edu 37 16 29855978 29855978 + Missense_Mutation SNP G A A rs148167046 TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:29855978G>A uc002dui.2 + 11 1883 c.1799G>A c.(1798-1800)CGC>CAC p.R600H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R600H|MVP_uc010vea.1_Missense_Mutation_p.R194H NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein 600 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 CGCATCATTCGCACTGCTGTC 0.617 PRSS36 146547 broad.mit.edu 37 16 31151818 31151818 + Missense_Mutation SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:31151818T>C uc002ebd.2 - 13 2221 c.2162A>G c.(2161-2163)GAC>GGC p.D721G PRSS36_uc010vff.1_Missense_Mutation_p.D496G|PRSS36_uc010vfg.1_Missense_Mutation_p.D716G|PRSS36_uc010vfh.1_Intron NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 721 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 CTCACCTCGGTCCTGGGGTTC 0.667 RPGRIP1L 23322 broad.mit.edu 37 16 53686572 53686572 + Missense_Mutation SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:53686572T>C uc002ehp.2 - 15 2091 c.2027A>G c.(2026-2028)AAT>AGT p.N676S RPGRIP1L_uc002eho.3_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.N676S|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N676S NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 676 C2 1. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) GGTGATAGTATTCTTCTGAAT 0.378 NUDT21 11051 broad.mit.edu 37 16 56473612 56473612 + Missense_Mutation SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:56473612T>C uc002eja.2 - 4 575 c.428A>G c.(427-429)GAT>GGT p.D143G NUDT21_uc002eiz.2_Missense_Mutation_p.D68G NM_007006 NP_008937 O43809 CPSF5_HUMAN cleavage and polyadenylation specific factor 5 143 Nudix hydrolase.|Necessary for interactions with PAPOLA and PABPN1.|Necessary for RNA-binding. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription centrosome|mRNA cleavage factor complex|paraspeckles AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity 0 ACCAATGCAATCGTCAATGAC 0.408 TMEM208 29100 broad.mit.edu 37 16 67261781 67261781 + Missense_Mutation SNP G C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:67261781G>C uc002esi.2 + 2 155 c.49G>C c.(49-51)GAA>CAA p.E17Q LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA NM_014187 NP_054906 Q9BTX3 TM208_HUMAN HSPC171 protein 17 integral to membrane 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GCAGATATTTGAAGAGAACAG 0.532 EDC4 23644 broad.mit.edu 37 16 67914753 67914753 + Silent SNP A G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:67914753A>G uc002eur.2 + 18 2557 c.2391A>G c.(2389-2391)GGA>GGG p.G797G EDC4_uc010cer.2_Silent_p.G416G|EDC4_uc002eus.2_Silent_p.G527G|EDC4_uc002eut.1_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 797 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GGCTTGATGGAGGCCCTGGGG 0.672 PLCG2 5336 broad.mit.edu 37 16 81942161 81942161 + Silent SNP C T T rs11548654 TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:81942161C>T uc002fgt.2 + 17 1850 c.1698C>T c.(1696-1698)AGC>AGT p.S566S PLCG2_uc010chg.1_Silent_p.S566S NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 566 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 TTCGGGAGAGCGAGACCTTCC 0.592 DERL2 51009 broad.mit.edu 37 17 5383436 5383436 + Missense_Mutation SNP G T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:5383436G>T uc002gcc.1 - 6 568 c.552C>A c.(550-552)TTC>TTA p.F184L NM_016041 NP_057125 Q9GZP9 DERL2_HUMAN Der1-like domain family, member 2 184 Helical; Name=4; (Potential). endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane protein binding 0 CATCTTCCAAGAAAAAATATA 0.358 TP53 7157 broad.mit.edu 37 17 7577544 7577544 + Missense_Mutation SNP A C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:7577544A>C uc002gim.2 - 7 931 c.737T>G c.(736-738)ATG>AGG p.M246R TP53_uc002gig.1_Missense_Mutation_p.M246R|TP53_uc002gih.2_Missense_Mutation_p.M246R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M114R|TP53_uc010cng.1_Missense_Mutation_p.M114R|TP53_uc002gii.1_Missense_Mutation_p.M114R|TP53_uc010cnh.1_Missense_Mutation_p.M246R|TP53_uc010cni.1_Missense_Mutation_p.M246R|TP53_uc002gij.2_Missense_Mutation_p.M246R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M153R|TP53_uc002gio.2_Missense_Mutation_p.M114R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 246 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). M -> R (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.M246V(28)|p.M246I(24)|p.M246R(10)|p.M246K(8)|p.0?(7)|p.M246T(6)|p.M246L(2)|p.M246fs*1(2)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTCCGGTTCATGCCGCCCAT 0.572 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) DNAH2 146754 broad.mit.edu 37 17 7640511 7640511 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:7640511C>T uc002giu.1 + 7 1119 c.1105C>T c.(1105-1107)CGC>TGC p.R369C DNAH2_uc002git.2_Missense_Mutation_p.R369C|DNAH2_uc010vuk.1_Missense_Mutation_p.R369C NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 369 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CAGTCTCATCCGCATCATCTG 0.517 ALOX15B 247 broad.mit.edu 37 17 7943287 7943287 + Silent SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:7943287G>A uc002gju.2 + 3 551 c.435G>A c.(433-435)CGG>CGA p.R145R ALOX15B_uc002gjv.2_Silent_p.R145R|ALOX15B_uc002gjw.2_Silent_p.R145R|ALOX15B_uc010vun.1_Silent_p.R145R|ALOX15B_uc010cnp.2_5'UTR NM_001141 NP_001132 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, second type 145 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity ovary(1) 1 TTCAGGCCCGGCAGGAGATGT 0.607 GLP2R 9340 broad.mit.edu 37 17 9737155 9737155 + Missense_Mutation SNP G A A rs147858947 byFrequency TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:9737155G>A uc002gmd.1 + 2 221 c.221G>A c.(220-222)CGG>CAG p.R74Q GLP2R_uc010cog.1_RNA NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 74 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) GAAACGACTCGGAAGTGGGCT 0.413 MYH13 8735 broad.mit.edu 37 17 10243484 10243484 + Missense_Mutation SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:10243484T>C uc002gmk.1 - 18 2129 c.2039A>G c.(2038-2040)AAT>AGT p.N680S NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 680 Myosin head-like.|Actin-binding (By similarity). muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CTTGGTCTCATTGGGAATCAG 0.423 CETN1 1068 broad.mit.edu 37 18 580606 580606 + Silent SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr18:580606G>A uc002kko.1 + 1 240 c.198G>A c.(196-198)AAG>AAA p.K66K NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 66 EF-hand 2. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 AACCCAGGAAGGAAGAGATGA 0.557 MYOM1 8736 broad.mit.edu 37 18 3126851 3126851 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr18:3126851G>A uc002klp.2 - 19 3173 c.2839C>T c.(2839-2841)CGT>TGT p.R947C MYOM1_uc002klq.2_Missense_Mutation_p.R851C NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 947 Fibronectin type-III 4. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 ATTGAGTCACGAAAACTTTCA 0.423 DSC2 1824 broad.mit.edu 37 18 28659892 28659892 + Missense_Mutation SNP T A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr18:28659892T>A uc002kwl.3 - 11 2038 c.1584A>T c.(1582-1584)AAA>AAT p.K528N DSC2_uc002kwk.3_Missense_Mutation_p.K528N NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 528 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TTCTGAAAACTTTGATTGATC 0.343 TNFSF9 8744 broad.mit.edu 37 19 6531065 6531065 + Silent SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:6531065C>T uc002mfh.2 + 1 56 c.18C>T c.(16-18)GAC>GAT p.D6D NM_003811 NP_003802 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, 6 Cytoplasmic (Potential). apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1) 1 ACGCCTCTGACGCTTCACTGG 0.632 FBN3 84467 broad.mit.edu 37 19 8200953 8200953 + Missense_Mutation SNP C G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:8200953C>G uc002mjf.2 - 12 1504 c.1483G>C c.(1483-1485)GTC>CTC p.V495L NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 495 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCACCACTGACAATGCACTCG 0.612 WDR83 84292 broad.mit.edu 37 19 12779320 12779320 + Splice_Site SNP A G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:12779320A>G uc002mue.3 + 2 180 c.-155_splice c.e2-2 MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002muc.2_Splice_Site|C19orf56_uc002mud.2_Intron|WDR83_uc010dyw.2_5'Flank NM_001099737 NP_001093207 Q9BRX9 WDR83_HUMAN mitogen-activated protein kinase organizer 1 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm lung(1)|breast(1) 2 CTTGTTCTGTAGGGCAAGTCT 0.557 MYO9B 4650 broad.mit.edu 37 19 17308666 17308666 + Missense_Mutation SNP A G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:17308666A>G uc010eak.2 + 23 4264 c.4112A>G c.(4111-4113)CAG>CGG p.Q1371R MYO9B_uc002nfi.2_Missense_Mutation_p.Q1371R|MYO9B_uc002nfj.1_Missense_Mutation_p.Q1371R|MYO9B_uc002nfl.1_5'Flank NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1371 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 GCCAAGGCTCAGGTAACAAca 0.308 ZFP30 22835 broad.mit.edu 37 19 38127033 38127033 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:38127033G>A uc002ogv.1 - 6 925 c.409C>T c.(409-411)CCT>TCT p.P137S ZFP30_uc002ogw.1_Missense_Mutation_p.P137S|ZFP30_uc002ogx.1_Missense_Mutation_p.P137S|ZFP30_uc010xtt.1_Missense_Mutation_p.P136S NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGTAAGTAGGCATTTTTTCA 0.408 CEACAM4 1089 broad.mit.edu 37 19 42133314 42133314 + Silent SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:42133314G>A uc002orh.1 - 1 129 c.18C>T c.(16-18)GCC>GCT p.A6A CEACAM4_uc010xwd.1_Silent_p.A6A NM_001817 NP_001808 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion 6 integral to plasma membrane|membrane fraction 0 CACGGGGAGCGGCTGAGGGGG 0.652 CLPTM1 1209 broad.mit.edu 37 19 45476426 45476426 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:45476426C>T uc002pai.2 + 3 283 c.268C>T c.(268-270)CGC>TGC p.R90C CLPTM1_uc010ejv.1_Translation_Start_Site|CLPTM1_uc010xxf.1_Translation_Start_Site|CLPTM1_uc010xxg.1_Missense_Mutation_p.R76C NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 90 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) AGGAGCTCCACGCGTCGCCAG 0.627 LILRA5 353514 broad.mit.edu 37 19 54823150 54823150 + Silent SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:54823150C>T uc002qfe.2 - 4 513 c.393G>A c.(391-393)CTG>CTA p.L131L LILRA5_uc002qff.2_Silent_p.L119L|LILRA5_uc010yev.1_Silent_p.L131L|LILRA5_uc010yew.1_Silent_p.L119L|LILRA5_uc002qfh.1_Silent_p.L119L|LILRA5_uc002qfg.1_Silent_p.L131L NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 131 Extracellular (Potential).|Ig-like C2-type 1. innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCACCAGCTCCAGGGGGTCGC 0.622 NLRP13 126204 broad.mit.edu 37 19 56422072 56422072 + Silent SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:56422072G>A uc010ygg.1 - 6 2164 c.2139C>T c.(2137-2139)CAC>CAT p.H713H NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 713 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TGTTCCATGCGTGCATCCTGG 0.463 CAD 790 broad.mit.edu 37 2 27449783 27449783 + Missense_Mutation SNP A G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:27449783A>G uc002rji.2 + 15 2402 c.2240A>G c.(2239-2241)AAG>AGG p.K747R CAD_uc010eyw.2_Missense_Mutation_p.K684R NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 747 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GACCTTAGCAAGTTCCTGCGA 0.562 DPP10 57628 broad.mit.edu 37 2 116548668 116548668 + Missense_Mutation SNP T A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:116548668T>A uc002tla.1 + 18 2000 c.1543T>A c.(1543-1545)TTG>ATG p.L515M DPP10_uc002tlb.1_Missense_Mutation_p.L465M|DPP10_uc002tlc.1_Missense_Mutation_p.L511M|DPP10_uc002tle.2_Missense_Mutation_p.L519M|DPP10_uc002tlf.1_Missense_Mutation_p.L508M NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 515 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ATATTTTATATTGGAAAGCAA 0.303 YSK4 80122 broad.mit.edu 37 2 135744775 135744775 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:135744775G>A uc002tue.1 - 7 1698 c.1667C>T c.(1666-1668)ACT>ATT p.T556I YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T443I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.T284I|YSK4_uc002tui.3_Missense_Mutation_p.T573I NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 556 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) GGGACCTTCAGTAGAAATCAC 0.428 FAP 2191 broad.mit.edu 37 2 163055364 163055365 + Missense_Mutation DNP GC AA AA TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:163055364_163055365GC>AA uc002ucd.2 - 16 1512_1513 c.1304_1305GC>TT c.(1303-1305)AGC>ATT p.S435I FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Missense_Mutation_p.S410I|FAP_uc010fpd.2_5'UTR NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 435 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 CACACTTCTTGCTTGGAGGATA 0.371 TTN 7273 broad.mit.edu 37 2 179421857 179421857 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:179421857C>T uc010zfg.1 - 279 80544 c.80320G>A c.(80320-80322)GTT>ATT p.V26774I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V20469I|TTN_uc010zfi.1_Missense_Mutation_p.V20402I|TTN_uc010zfj.1_Missense_Mutation_p.V20277I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27701 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) GTGATACGAACATTTCTTGGG 0.403 TTN 7273 broad.mit.edu 37 2 179483569 179483569 + Missense_Mutation SNP T A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:179483569T>A uc010zfg.1 - 200 39228 c.39004A>T c.(39004-39006)ATC>TTC p.I13002F TTN_uc010zfh.1_Missense_Mutation_p.I6697F|TTN_uc010zfi.1_Missense_Mutation_p.I6630F|TTN_uc010zfj.1_Missense_Mutation_p.I6505F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13929 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) GCTGTCTTGATTTTTGGTGCA 0.408 TTN 7273 broad.mit.edu 37 2 179485012 179485012 + Silent SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:179485012G>A uc010zfg.1 - 197 38756 c.38532C>T c.(38530-38532)TGC>TGT p.C12844C TTN_uc010zfh.1_Silent_p.C6539C|TTN_uc010zfi.1_Silent_p.C6472C|TTN_uc010zfj.1_Silent_p.C6347C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13771 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) TGGAGAGCTGGCAGGAGAAGA 0.418 CPXM1 56265 broad.mit.edu 37 20 2776322 2776322 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr20:2776322C>T uc002wgu.2 - 11 1707 c.1643G>A c.(1642-1644)CGC>CAC p.R548H CPXM1_uc010gas.2_Intron NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 548 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 GCAGGGTCGGCGGCTGGTGTC 0.622 ProSAPiP1 9762 broad.mit.edu 37 20 3146165 3146165 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr20:3146165C>T uc002wia.1 - 2 2699 c.1301G>A c.(1300-1302)CGG>CAG p.R434Q ProSAPiP1_uc002wib.1_Missense_Mutation_p.R388Q NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 434 Potential. cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 TTCCTCTATCCGGGGCAGGAA 0.662 CRLS1 54675 broad.mit.edu 37 20 5996124 5996124 + Missense_Mutation SNP G T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr20:5996124G>T uc002wmn.3 + 3 716 c.562G>T c.(562-564)GAT>TAT p.D188Y CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Missense_Mutation_p.D89Y|CRLS1_uc010gbs.1_Missense_Mutation_p.D77Y NM_019095 NP_061968 Q9UJA2 CRLS1_HUMAN cardiolipin synthase 1 isoform 1 188 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphotransferase activity, for other substituted phosphate groups 0 GACCTATGCAGATCTTATTCC 0.383 SALL4 57167 broad.mit.edu 37 20 50401201 50401201 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr20:50401201G>A uc002xwh.3 - 4 2866 c.2765C>T c.(2764-2766)GCG>GTG p.A922V SALL4_uc010gii.2_Missense_Mutation_p.A485V|SALL4_uc002xwi.3_Missense_Mutation_p.A145V NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 922 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GTTATTGTTCGCCCCGTGTGT 0.468 LZTR1 8216 broad.mit.edu 37 22 21345975 21345975 + Missense_Mutation SNP C A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr22:21345975C>A uc002zto.2 + 9 953 c.850C>A c.(850-852)CGC>AGC p.R284S LZTR1_uc002ztn.2_Missense_Mutation_p.R243S|LZTR1_uc011ahy.1_Missense_Mutation_p.R265S|LZTR1_uc010gsr.1_Missense_Mutation_p.R155S NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 284 Kelch 4. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCCGCAGCGGCGCTACGGGCA 0.632 FGD5 152273 broad.mit.edu 37 3 14861995 14861995 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr3:14861995G>A uc003bzc.2 + 1 1527 c.1417G>A c.(1417-1419)GCG>ACG p.A473T FGD5_uc011avk.1_Missense_Mutation_p.A473T NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 473 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CCTGGTTCCCGCGGACAGGAA 0.642 ZBED2 79413 broad.mit.edu 37 3 111312849 111312849 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr3:111312849C>T uc003dxy.2 - 2 1085 c.200G>A c.(199-201)CGT>CAT p.R67H CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN zinc finger, BED domain containing 2 67 BED-type. DNA binding|metal ion binding skin(1) 1 GTGCCCAGCACGAGCAGGAGC 0.612 MFI2 4241 broad.mit.edu 37 3 196735736 196735736 + Silent SNP G C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr3:196735736G>C uc003fxk.3 - 12 1739 c.1626C>G c.(1624-1626)CGC>CGG p.R542R NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 542 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CACACTTGTTGCGGCCCTGCT 0.642 ARAP2 116984 broad.mit.edu 37 4 36231022 36231022 + Missense_Mutation SNP C G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:36231022C>G uc003gsq.1 - 2 425 c.87G>C c.(85-87)GAG>GAC p.E29D ARAP2_uc003gsr.1_Missense_Mutation_p.E29D NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 29 SAM. 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 TAAAACCAGACTCATGGAAAT 0.393 RBM47 54502 broad.mit.edu 37 4 40440160 40440160 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:40440160G>A uc003gvc.2 - 4 1461 c.751C>T c.(751-753)CGC>TGC p.R251C RBM47_uc003gvd.2_Missense_Mutation_p.R251C|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R213C|RBM47_uc003gvg.1_Missense_Mutation_p.R251C NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 251 RRM 3. nucleus nucleotide binding|RNA binding breast(3) 3 ATGAGGTTGCGCACGTAGAGG 0.617 UBA6 55236 broad.mit.edu 37 4 68543331 68543331 + Missense_Mutation SNP G T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:68543331G>T uc003hdg.3 - 6 515 c.463C>A c.(463-465)CAG>AAG p.Q155K UBA6_uc003hdi.2_Missense_Mutation_p.Q155K|UBA6_uc003hdj.2_Missense_Mutation_p.Q155K NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 155 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 GTACTAACCTGGTATTTATCT 0.308 Unknown 0 broad.mit.edu 37 4 69344650 69344650 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:69344650G>A uc003hdz.3 + 9 1115 c.1051G>A c.(1051-1053)GCC>ACC p.A351T NM_014058 NP_054777 transmembrane protease, serine 11E TTACAATGACGCCATAACTCC 0.388 PTPN13 5783 broad.mit.edu 37 4 87671855 87671855 + Silent SNP A G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:87671855A>G uc003hpz.2 + 18 3363 c.2883A>G c.(2881-2883)GAA>GAG p.E961E PTPN13_uc003hpy.2_Silent_p.E961E|PTPN13_uc003hqa.2_Silent_p.E961E|PTPN13_uc003hqb.2_Intron NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 961 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CATGGGAGGAAAAGCCTAGAG 0.438 CCNA2 890 broad.mit.edu 37 4 122744710 122744710 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:122744710G>A uc003iec.3 - 1 379 c.74C>T c.(73-75)GCG>GTG p.A25V NM_001237 NP_001228 P20248 CCNA2_HUMAN cyclin A 25 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding ovary(1) 1 CTCTTGGAGCGCCGTCTGCTG 0.692 SMARCA5 8467 broad.mit.edu 37 4 144461639 144461639 + Missense_Mutation SNP A T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:144461639A>T uc003ijg.2 + 14 2356 c.1894A>T c.(1894-1896)ATT>TTT p.I632F NM_003601 NP_003592 O60264 SMCA5_HUMAN SWI/SNF-related matrix-associated 632 Helicase C-terminal. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding skin(1) 1 all_hematologic(180;0.158) TTCAATAGTCATTCAACAAGG 0.363 C4orf45 152940 broad.mit.edu 37 4 159881481 159881481 + Missense_Mutation SNP G T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:159881481G>T uc003iqf.1 - 3 398 c.313C>A c.(313-315)CAA>AAA p.Q105K C4orf45_uc010iqt.1_Intron NM_152543 NP_689756 Q96LM5 CD045_HUMAN hypothetical protein LOC152940 105 0 AGAGAAGCTTGACTTAGTTCT 0.308 PLEKHG4B 153478 broad.mit.edu 37 5 140833 140833 + Splice_Site SNP T G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:140833T>G uc003jak.2 + 1 459 c.409_splice c.e1+2 p.D137_splice NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AAGAGGAAGGTAAATGCTCCC 0.552 CTNND2 1501 broad.mit.edu 37 5 11199757 11199757 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:11199757C>T uc003jfa.1 - 11 1923 c.1778G>A c.(1777-1779)GGC>GAC p.G593D CTNND2_uc010itt.2_Missense_Mutation_p.G502D|CTNND2_uc011cmy.1_Missense_Mutation_p.G256D|CTNND2_uc011cmz.1_Missense_Mutation_p.G160D|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.G160D NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 593 ARM 3. 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 GAGCTGGATGCCTCCTTGTCT 0.473 PTGER4 5734 broad.mit.edu 37 5 40681332 40681332 + Silent SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:40681332G>A uc003jlz.2 + 2 829 c.237G>A c.(235-237)ACG>ACA p.T79T NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 79 Helical; Name=2; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 CCATCGCCACGTACATGAAGG 0.607 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) THBS4 7060 broad.mit.edu 37 5 79373950 79373950 + Missense_Mutation SNP A G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:79373950A>G uc003kgh.2 + 18 2488 c.2165A>G c.(2164-2166)AAC>AGC p.N722S uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 722 TSP type-3 8. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) TGCCCAGAGAACGCAGAGGTC 0.592 GPR98 84059 broad.mit.edu 37 5 90021005 90021005 + Missense_Mutation SNP C A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:90021005C>A uc003kju.2 + 47 10105 c.10009C>A c.(10009-10011)CTT>ATT p.L3337I GPR98_uc003kjt.2_Missense_Mutation_p.L1043I|GPR98_uc003kjv.2_Missense_Mutation_p.L937I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3337 Extracellular (Potential).|EAR 2. 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) AAAGCCTTCTCTTAACAGTGT 0.264 PCDHB1 29930 broad.mit.edu 37 5 140432384 140432384 + Silent SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:140432384C>T uc003lik.1 + 1 1406 c.1329C>T c.(1327-1329)TCC>TCT p.S443S NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 443 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTAATATCCGACGTTAATG 0.448 FAM71B 153745 broad.mit.edu 37 5 156589852 156589852 + Missense_Mutation SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:156589852T>C uc003lwn.2 - 2 1524 c.1424A>G c.(1423-1425)AAC>AGC p.N475S NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 475 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATCTCTCGTGTTTTTATGGCC 0.527 GABRA6 2559 broad.mit.edu 37 5 161128598 161128598 + Missense_Mutation SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:161128598C>T uc003lyu.2 + 9 1519 c.1181C>T c.(1180-1182)GCG>GTG p.A394V GABRA6_uc003lyv.2_Missense_Mutation_p.A165V NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 394 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 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) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCACGAGAGCGCCCATCTTA 0.473 TCGA Ovarian(5;0.080) MDC1 9656 broad.mit.edu 37 6 30675376 30675376 + Nonsense_Mutation SNP C A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:30675376C>A uc003nrg.3 - 8 3420 c.2980G>T c.(2980-2982)GGA>TGA p.G994* MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 994 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 ACTGGGGATCCCCTTCCACCT 0.637 Other_conserved_DNA_damage_response_genes DST 667 broad.mit.edu 37 6 56476386 56476386 + Silent SNP A G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:56476386A>G uc003pdf.2 - 37 4996 c.4968T>C c.(4966-4968)AGT>AGC p.S1656S DST_uc003pcz.3_Silent_p.S1478S|DST_uc011dxj.1_Silent_p.S1507S|DST_uc011dxk.1_Silent_p.S1518S|DST_uc003pcy.3_Silent_p.S1152S|DST_uc003pdb.2_Silent_p.S1152S NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATATTTCCTCACTGGAAATCT 0.333 PTP4A1 7803 broad.mit.edu 37 6 64289185 64289185 + Missense_Mutation SNP C A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:64289185C>A uc003pek.2 + 7 1339 c.353C>A c.(352-354)GCA>GAA p.A118E PTP4A1_uc003pel.2_Missense_Mutation_p.A118E NM_003463 NP_003454 Q93096 TP4A1_HUMAN protein tyrosine phosphatase type IVA, member 1 118 Tyrosine-protein phosphatase.|Interaction with ATF5 (By similarity). cell cycle|multicellular organismal development early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle protein binding|protein tyrosine phosphatase activity 0 all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175) Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13) GTTGCCCTAGCATTAATTGAA 0.328 C6orf182 285753 broad.mit.edu 37 6 109480497 109480497 + Missense_Mutation SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:109480497T>C uc010kdk.2 + 11 1425 c.848T>C c.(847-849)ATC>ACC p.I283T C6orf182_uc003psx.3_Missense_Mutation_p.I283T|C6orf182_uc010kdl.2_Missense_Mutation_p.I283T|C6orf182_uc003psy.3_Missense_Mutation_p.I283T NM_001083535 NP_001077004 Q8IYX8 CE57L_HUMAN hypothetical protein LOC285753 283 microtubule|microtubule organizing center 0 all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11) BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233) GACCCACATATCCTTCAGAAA 0.433 C6orf170 221322 broad.mit.edu 37 6 121433663 121433663 + Missense_Mutation SNP C G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:121433663C>G uc003pyo.1 - 29 3380 c.3312G>C c.(3310-3312)AGG>AGC p.R1104S NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 1104 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) AAATATGTAGCCTTGGCAACC 0.338 GRM1 2911 broad.mit.edu 37 6 146708084 146708084 + Missense_Mutation SNP A T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:146708084A>T uc010khw.1 + 7 2131 c.1661A>T c.(1660-1662)GAA>GTA p.E554V GRM1_uc010khv.1_Missense_Mutation_p.E554V|GRM1_uc003qll.2_Missense_Mutation_p.E554V|GRM1_uc011edz.1_Missense_Mutation_p.E554V|GRM1_uc011eea.1_Missense_Mutation_p.E554V NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 554 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AAAGAGAATGAATATGTGCAA 0.438 PLEKHG1 57480 broad.mit.edu 37 6 151117039 151117039 + Splice_Site SNP G T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:151117039G>T uc003qny.1 + 6 941 c.629_splice c.e6+1 p.R210_splice PLEKHG1_uc011eel.1_Splice_Site_p.R250_splice|PLEKHG1_uc011eem.1_Splice_Site_p.R269_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.R210_splice NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ACTATCCAAGGTATGGATCGA 0.403 SYNE1 23345 broad.mit.edu 37 6 152792795 152792795 + Silent SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:152792795C>T uc010kiw.2 - 16 2171 c.1569G>A c.(1567-1569)CTG>CTA p.L523L SYNE1_uc003qot.3_Silent_p.L530L|SYNE1_uc003qou.3_Silent_p.L523L|SYNE1_uc010kjb.1_Silent_p.L506L|SYNE1_uc003qpa.1_Silent_p.L523L|SYNE1_uc003qox.1_Silent_p.L39L|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Silent_p.L90L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 523 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCAAGACTTCAGCTTTGACT 0.438 HNSCC(10;0.0054) SLC29A4 222962 broad.mit.edu 37 7 5330388 5330388 + Silent SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:5330388C>T uc003sod.2 + 3 356 c.195C>T c.(193-195)GAC>GAT p.D65D SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.D65D|SLC29A4_uc003soe.2_Silent_p.D65D NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 65 Extracellular (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) TGCCCGATGACCGTTATCACG 0.587 CPVL 54504 broad.mit.edu 37 7 29134756 29134756 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:29134756G>A uc003szv.2 - 5 525 c.406C>T c.(406-408)CGT>TGT p.R136C CPVL_uc003szw.2_Missense_Mutation_p.R136C|CPVL_uc003szx.2_Missense_Mutation_p.R136C NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 136 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 TCTCTGTCACGCACTGTGAAA 0.547 RABGEF1 27342 broad.mit.edu 37 7 66270262 66270262 + Missense_Mutation SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:66270262T>C uc011kee.1 + 8 1162 c.998T>C c.(997-999)CTC>CCC p.L333P RABGEF1_uc003tvf.2_Missense_Mutation_p.L192P|RABGEF1_uc003tvg.2_Missense_Mutation_p.L127P|RABGEF1_uc010lag.2_Missense_Mutation_p.L319P|RABGEF1_uc003tvh.2_Missense_Mutation_p.L319P|RABGEF1_uc003tvi.2_Missense_Mutation_p.L153P NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 536 VPS9. endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 CTCCCCACCCTCATCTACATT 0.522 C7orf64 84060 broad.mit.edu 37 7 92158936 92158936 + Silent SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:92158936T>C uc003ulz.2 + 2 299 c.258T>C c.(256-258)TTT>TTC p.F86F PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Silent_p.F86F|C7orf64_uc003uma.2_Silent_p.F86F NM_032120 NP_115496 Q5RL73 CG064_HUMAN hypothetical protein LOC84060 86 nucleotide binding ovary(2) 2 CAGAAGACTTTACTGAAGTTT 0.353 HEPACAM2 253012 broad.mit.edu 37 7 92821587 92821587 + Silent SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:92821587G>A uc003umm.2 - 9 1388 c.1365C>T c.(1363-1365)GCC>GCT p.A455A HEPACAM2_uc003uml.2_Silent_p.A443A|HEPACAM2_uc010lff.2_Missense_Mutation_p.P435L|HEPACAM2_uc011khy.1_Silent_p.A478A NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 455 Cytoplasmic (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 CTTGCTGCTGGGCAGGGATGT 0.453 CALCR 799 broad.mit.edu 37 7 93055835 93055835 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:93055835G>A uc003umv.1 - 15 1621 c.1360C>T c.(1360-1362)CGC>TGC p.R454C CALCR_uc011kia.1_Missense_Mutation_p.R234C|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R420C|CALCR_uc003umw.2_Missense_Mutation_p.R420C NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 436 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TTGGAGGGGCGCCTCCCCCAA 0.557 ANKRD7 56311 broad.mit.edu 37 7 117864828 117864828 + Translation_Start_Site SNP C T T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:117864828C>T uc003vji.2 + 1 117 c.-56C>T c.(-58--54)GACGG>GATGG NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 male gonad development 0 GCAGGGCGGACGGCTAGGAGT 0.602 PLAT 5327 broad.mit.edu 37 8 42037449 42037449 + Missense_Mutation SNP T G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr8:42037449T>G uc003xos.2 - 12 1567 c.1358A>C c.(1357-1359)GAG>GCG p.E453A PLAT_uc010lxf.1_Missense_Mutation_p.E370A|PLAT_uc010lxg.1_Missense_Mutation_p.E278A|PLAT_uc003xot.2_Missense_Mutation_p.E407A|PLAT_uc011lcm.1_Missense_Mutation_p.E364A|PLAT_uc011lcn.1_Missense_Mutation_p.E327A NM_000930 NP_000921 P00750 TPA_HUMAN plasminogen activator, tissue isoform 1 453 Peptidase S1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|skin(1) 2 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CTTACAGGCCTCATGCTTGCC 0.652 CYP7B1 9420 broad.mit.edu 37 8 65517238 65517238 + Splice_Site SNP C A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr8:65517238C>A uc003xvj.2 - 5 1437 c.1233_splice c.e5+1 p.E411_splice NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TGTTTACTTACCTCTGGAGCT 0.493 TRAPPC9 83696 broad.mit.edu 37 8 141461384 141461384 + Missense_Mutation SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr8:141461384T>C uc003yvj.2 - 2 223 c.89A>G c.(88-90)AAC>AGC p.N30S TRAPPC9_uc003yvh.2_Missense_Mutation_p.N128S|TRAPPC9_uc003yvi.1_Missense_Mutation_p.N30S NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 30 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 CCTGAAGAAGTTCTCCTCGGA 0.567 ZNF696 79943 broad.mit.edu 37 8 144378380 144378380 + Missense_Mutation SNP A G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr8:144378380A>G uc003yxy.3 + 3 944 c.535A>G c.(535-537)AGG>GGG p.R179G NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CAGCGGGGAGAGGCCCTACGC 0.697 ARHGAP39 80728 broad.mit.edu 37 8 145806268 145806268 + Silent SNP C G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr8:145806268C>G uc003zdt.1 - 4 1029 c.474G>C c.(472-474)CGG>CGC p.R158R ARHGAP39_uc011llk.1_Silent_p.R158R|ARHGAP39_uc003zds.1_Silent_p.R158R NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 158 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 ACGCCGCGGGCCGCCCGGCCC 0.657 ARID3C 138715 broad.mit.edu 37 9 34623425 34623425 + Missense_Mutation SNP T C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:34623425T>C uc011lon.1 - 4 862 c.862A>G c.(862-864)AAA>GAA p.K288E DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 288 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CTCGCACCTTTCTTAATAGGG 0.592 FAM75A6 389730 broad.mit.edu 37 9 43628658 43628658 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:43628658G>A uc011lrb.1 - 3 313 c.284C>T c.(283-285)TCG>TTG p.S95L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 95 integral to membrane 0 AAGAAGGTCCGAAGTCTCCTC 0.612 SLC28A3 64078 broad.mit.edu 37 9 86928326 86928326 + Missense_Mutation SNP T A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:86928326T>A uc010mpz.2 - 2 229 c.104A>T c.(103-105)AAC>ATC p.N35I SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Missense_Mutation_p.N35I|SLC28A3_uc010mqb.2_5'UTR NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 35 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 TCTTATTGAGTTGTTTCCTGA 0.418 ROR2 4920 broad.mit.edu 37 9 94487296 94487296 + Missense_Mutation SNP C T T rs138310082 byFrequency TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:94487296C>T uc004arj.1 - 9 1679 c.1480G>A c.(1480-1482)GGC>AGC p.G494S ROR2_uc004ari.1_Missense_Mutation_p.G354S NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 494 Cytoplasmic (Potential).|Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GGGGCAGGGCCGAACAGGTGA 0.602 ZBTB34 403341 broad.mit.edu 37 9 129643102 129643102 + Missense_Mutation SNP T G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:129643102T>G uc004bqm.3 + 2 1509 c.1412T>G c.(1411-1413)GTG>GGG p.V471G NM_001099270 NP_001092740 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GATGTGTACGTGGAACAGAAA 0.507 PRDM12 59335 broad.mit.edu 37 9 133556658 133556658 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:133556658G>A uc004bzt.1 + 5 766 c.706G>A c.(706-708)GCG>ACG p.A236T NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN PR domain containing 12 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCGGACTCGGCGGCTGGCCC 0.622 ESX1 80712 broad.mit.edu 37 X 103495282 103495282 + Missense_Mutation SNP G A A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chrX:103495282G>A uc004ely.2 - 4 906 c.848C>T c.(847-849)GCG>GTG p.A283V NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 283 5.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGGCACAGGCGCCATGCGTGA 0.498 GPC3 2719 broad.mit.edu 37 X 133087081 133087081 + Missense_Mutation SNP G C C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chrX:133087081G>C uc004exe.1 - 2 523 c.333C>G c.(331-333)TTC>TTG p.F111L GPC3_uc010nrn.1_Missense_Mutation_p.F111L|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 111 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) ACTCACCTTGGAAAACCGCAG 0.373 T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome NLGN4Y 22829 broad.mit.edu 37 Y 16952864 16952864 + Missense_Mutation SNP C G G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chrY:16952864C>G uc004ftg.2 + 6 2425 c.2173C>G c.(2173-2175)CAG>GAG p.Q725E NLGN4Y_uc004fte.2_Missense_Mutation_p.Q557E|NLGN4Y_uc011nas.1_Missense_Mutation_p.Q745E|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q418E|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q725E NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 725 Cytoplasmic (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 CACTCACATCCAGAACGAAGA 0.547