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 VWA1 64856 broad.mit.edu 37 1 1372328 1372328 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:1372328G>A uc001afs.2 + 2 315 c.95G>A c.(94-96)CGA>CAA p.R32Q VWA1_uc001afr.2_Intron NM_022834 NP_073745 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 32 basement membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCAGCCCCCCGAGGGGACCTG 0.667000 ARID1A 8289 broad.mit.edu 37 1 27107162 27107162 + Missense_Mutation SNP T T G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:27107162T>G uc001bmv.1 + 20 7146 c.6773T>G c.(6772-6774)CTG>CGG p.L2258R ARID1A_uc001bmu.1_Missense_Mutation_p.L2041R|ARID1A_uc001bmx.1_Missense_Mutation_p.L1104R|ARID1A_uc009vsm.1_Missense_Mutation_p.L586R|ARID1A_uc009vsn.1_Missense_Mutation_p.L500R NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2258 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GAATCACGGCTGTTGGACATC 0.527000 Mis|N|F|S|D clear cell ovarian carcinoma|RCC YRDC 79693 broad.mit.edu 37 1 38272879 38272879 + Missense_Mutation SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:38272879C>A uc001cca.1 - 2 411 c.398G>T c.(397-399)CGT>CTT p.R133L C1orf122_uc001ccb.1_5'UTR NM_024640 NP_078916 Q86U90 YRDC_HUMAN ischemia/reperfusion inducible protein 133 YrdC-like. negative regulation of transport membrane|mitochondrion 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TACTCTCACACGGCAGTATCT 0.418000 PTGER3 5733 broad.mit.edu 37 1 71478123 71478123 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:71478123G>A uc001dfg.1 - 2 1173 c.942C>T c.(940-942)CAC>CAT p.H314H PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.H314H|PTGER3_uc001dfl.1_Silent_p.H314H|PTGER3_uc009wbm.1_Silent_p.H314H|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.H314H|PTGER3_uc009wbn.1_Silent_p.H314H|PTGER3_uc009wbo.2_Silent_p.H314H|PTGER3_uc001dfo.2_Silent_p.H314H|PTGER3_uc001dfp.1_Silent_p.H314H|PTGER3_uc001dfq.2_Silent_p.H314H NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 314 Extracellular (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) GTGTCTTGCAGTGCTCAACTG 0.368000 EPHX4 253152 broad.mit.edu 37 1 92508453 92508453 + Nonsense_Mutation SNP G G T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:92508453G>T uc001don.2 + 3 495 c.391G>T c.(391-393)GGA>TGA p.G131* NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 131 integral to membrane hydrolase activity central_nervous_system(1) 1 GAGAGGTTATGGAGAAACAGA 0.333000 NRAS 4893 broad.mit.edu 37 1 115258748 115258748 + Missense_Mutation SNP C C A rs121913250 TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:115258748C>A uc009wgu.2 - 2 288 c.34G>T c.(34-36)GGT>TGT p.G12C NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 12 GTP. G -> C (in leukemia). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.G12D(333)|p.G12S(118)|p.G12C(71)|p.G12V(54)|p.G12A(36)|p.G12R(16)|p.G12G(4)|p.G12N(1)|p.G12T(1)|p.G12P(1)|p.G12Y(1) haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1) 2607 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAACACCACCTGCTCCAACC 0.493000 G12C(P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis melanoma|MM|AML|thyroid Noonan_syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) PDE4DIP 9659 broad.mit.edu 37 1 144916601 144916601 + Missense_Mutation SNP G G A rs146793096 by1000genomes TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:144916601G>A uc001elw.3 - 13 2045 c.1754C>T c.(1753-1755)ACG>ATG p.T585M NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.T651M|PDE4DIP_uc001emc.1_Missense_Mutation_p.T585M|PDE4DIP_uc001emd.1_Missense_Mutation_p.T585M|PDE4DIP_uc001emb.1_Missense_Mutation_p.T748M|PDE4DIP_uc001eme.1_Missense_Mutation_p.T114M|PDE4DIP_uc001emf.1_Missense_Mutation_p.T372M NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 585 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGAAGAGACGTCTGTAACTG 0.418000 T PDGFRB MPD POGZ 23126 broad.mit.edu 37 1 151396574 151396574 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:151396574G>A uc001eyd.1 - 9 1680 c.1374C>T c.(1372-1374)GGC>GGT p.G458G POGZ_uc001eye.1_Silent_p.G405G|POGZ_uc010pdb.1_Silent_p.G449G|POGZ_uc001eyf.1_Silent_p.G405G|POGZ_uc010pdc.1_Silent_p.G396G|POGZ_uc009wmv.1_Silent_p.G363G|POGZ_uc010pdd.1_Intron NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 458 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGACGGCATCGCCCACGTTCT 0.507000 TCHH 7062 broad.mit.edu 37 1 152080964 152080964 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:152080964G>A uc001ezp.2 - 2 4729 c.4729C>T c.(4729-4731)CGT>TGT p.R1577C TCHH_uc009wne.1_Missense_Mutation_p.R1577C NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1577 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTCTGTCACGCTCTTGGCGG 0.597000 SLC9A11 284525 broad.mit.edu 37 1 173567077 173567077 + Missense_Mutation SNP A A G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:173567077A>G uc001giz.2 - 4 746 c.323T>C c.(322-324)GTA>GCA p.V108A SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 108 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 ATAAAATTCTACATCCAAAGC 0.318000 ADORA1 134 broad.mit.edu 37 1 203134919 203134919 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:203134919G>A uc001gze.1 + 4 1305 c.872G>A c.(871-873)CGC>CAC p.R291H FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.R291H|ADORA1_uc010pqg.1_Missense_Mutation_p.R223H|ADORA1_uc009xak.1_Silent_p.P216P|ADORA1_uc010pqh.1_Missense_Mutation_p.R324H NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 291 Helical; Name=7; (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) TATGCCTTCCGCATCCAGAAG 0.557000 OBSCN 84033 broad.mit.edu 37 1 228524806 228524806 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:228524806G>A uc009xez.1 + 65 16683 c.16639G>A c.(16639-16641)GTA>ATA p.V5547I OBSCN_uc001hsn.2_Missense_Mutation_p.V5547I|OBSCN_uc001hsr.1_Missense_Mutation_p.V175I NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5547 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CACTGAGATGGTATCGGCCAA 0.642000 RYR2 6262 broad.mit.edu 37 1 237801713 237801713 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr1:237801713G>A uc001hyl.1 + 45 6969 c.6849G>A c.(6847-6849)AAG>AAA p.K2283K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2283 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGTGTCTAAGGGCTATCCAG 0.428000 PDE6C 5146 broad.mit.edu 37 10 95372701 95372701 + Silent SNP G G A rs140469169 byFrequency TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr10:95372701G>A uc001kiu.3 + 1 357 c.219G>A c.(217-219)GGG>GGA p.G73G NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 73 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) AGGAGGAGGGGGGCACCCCAG 0.672000 PYROXD2 84795 broad.mit.edu 37 10 100154955 100154955 + Silent SNP A A G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr10:100154955A>G uc001kpc.2 - 8 869 c.783T>C c.(781-783)AGT>AGC p.S261S PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Silent_p.S261S NM_032709 NP_116098 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase 261 oxidoreductase activity central_nervous_system(1) 1 TCACTCACCCACTCCCCGGAG 0.542000 NDUFS3 4722 broad.mit.edu 37 11 47604020 47604020 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr11:47604020G>A uc001nga.2 + 6 709 c.627G>A c.(625-627)GAG>GAA p.E209E NDUFS3_uc001nft.3_Silent_p.E188E NM_004551 NP_004542 O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3 209 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) GCTATGTTGAGGTAGGAGCCT 0.502000 CNTF 1270 broad.mit.edu 37 11 58391516 58391516 + Nonsense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr11:58391516C>T uc001nna.3 + 2 204 c.124C>T c.(124-126)CAG>TAG p.Q42* ZFP91-CNTF_uc010rkm.1_RNA NM_000614 NP_000605 P26441 CNTF_HUMAN ciliary neurotrophic factor 42 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GGTGAAGCATCAGGGCCTGAA 0.507000 MS4A8B 83661 broad.mit.edu 37 11 60476242 60476242 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr11:60476242C>T uc001npv.2 + 5 725 c.522C>T c.(520-522)TAC>TAT p.Y174Y MS4A8B_uc009yne.1_Silent_p.Y174Y NM_031457 NP_113645 Q9BY19 M4A8B_HUMAN membrane-spanning 4-domains, subfamily A, member 174 Extracellular (Potential). integral to membrane receptor activity 0 ATTATCCTTACGCCTGGGGTG 0.458000 BIRC3 330 broad.mit.edu 37 11 102195339 102195339 + Missense_Mutation SNP G G C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr11:102195339G>C uc001pgx.2 + 3 321 c.99G>C c.(97-99)ATG>ATC p.M33I NM_182962 NP_892007 Q13489 BIRC3_HUMAN baculoviral IAP repeat-containing protein 3 33 BIR 1. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|skin(1) 4 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) TGTACCGAATGTCTACGTATT 0.403000 T MALT1 MALT CACNA1C 775 broad.mit.edu 37 12 2719812 2719812 + Nonsense_Mutation SNP G G T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr12:2719812G>T uc009zdu.1 + 29 4037 c.3724G>T c.(3724-3726)GAG>TAG p.E1242* CACNA1C_uc009zdv.1_Nonsense_Mutation_p.E1219*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkc.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.E1242*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.E1242*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.E1222*|CACNA1C_uc001qka.1_Nonsense_Mutation_p.E757*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.E958*|CACNA1C_uc001qkj.1_Nonsense_Mutation_p.E958*|CACNA1C_uc001qkk.1_Nonsense_Mutation_p.E958*|CACNA1C_uc001qkm.1_Nonsense_Mutation_p.E958* NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1242 Helical; Name=S1 of repeat IV; (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CACCTACTTCGAGTACCTGAT 0.587000 TEAD4 7004 broad.mit.edu 37 12 3131110 3131110 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr12:3131110C>T uc010sej.1 + 10 1098 c.821C>T c.(820-822)CCG>CTG p.P274L TEAD4_uc010sek.1_Missense_Mutation_p.P231L|TEAD4_uc001qln.2_Missense_Mutation_p.P146L NM_003213 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 isoform 1 275 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GACAAATTCCCGGAGAAAAAG 0.517000 ALG10 84920 broad.mit.edu 37 12 34179654 34179654 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr12:34179654C>T uc001rlm.2 + 3 1545 c.1226C>T c.(1225-1227)CCT>CTT p.P409L NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 409 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) GTTATAGTTCCTCAGAAACTG 0.358000 MLL2 8085 broad.mit.edu 37 12 49424062 49424062 + Splice_Site SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr12:49424062C>T uc001rta.3 - 42 13999 c.13999_splice c.e42+1 p.D4667_splice NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCTTGACTTACCCCTCAGTGC 0.547000 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) C12orf44 60673 broad.mit.edu 37 12 52470726 52470726 + Silent SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr12:52470726C>A uc001rzu.3 + 4 884 c.409C>A c.(409-411)CGG>AGG p.R137R C12orf44_uc009zmd.2_Silent_p.R137R|uc009zme.1_5'Flank NM_021934 NP_068753 Q9BSB4 ATGA1_HUMAN Atg13-interacting protein 137 autophagic vacuole assembly pre-autophagosomal structure identical protein binding|protein complex binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0978) GGAGCAGGAGCGGCAGATCTG 0.567000 RBMS2 5939 broad.mit.edu 37 12 56975886 56975886 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr12:56975886G>A uc001sln.2 + 9 1022 c.823G>A c.(823-825)GCT>ACT p.A275T RBMS2_uc010sqp.1_Missense_Mutation_p.A130T|RBMS2_uc010sqq.1_Missense_Mutation_p.A150T|RBMS2_uc009zou.2_Missense_Mutation_p.A32T NM_002898 NP_002889 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting 275 RNA processing nucleus nucleotide binding|RNA binding 0 CAGGATGCTTGCTCAGTCTGC 0.502000 ALX1 8092 broad.mit.edu 37 12 85677378 85677378 + Silent SNP A A G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr12:85677378A>G uc001tae.3 + 2 259 c.255A>G c.(253-255)GGA>GGG p.G85G NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 85 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) AAGTAGAAGGACAGCCCCTTC 0.438000 CCDC122 160857 broad.mit.edu 37 13 44433927 44433927 + Missense_Mutation SNP A A G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr13:44433927A>G uc010acf.2 - 5 695 c.436T>C c.(436-438)TGG>CGG p.W146R CCDC122_uc010tfn.1_Missense_Mutation_p.W146R NM_144974 NP_659411 Q5T0U0 CC122_HUMAN coiled-coil domain containing 122 146 0 Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128) ATAAATGACCATTTGCTCTCT 0.318000 NID2 22795 broad.mit.edu 37 14 52508986 52508986 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr14:52508986C>T uc001wzo.2 - 7 1896 c.1662G>A c.(1660-1662)CTG>CTA p.L554L NID2_uc010tqs.1_Silent_p.L554L|NID2_uc010tqt.1_Silent_p.L554L|NID2_uc001wzp.2_Silent_p.L554L NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 554 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TATACGCATGCAGGTCCACAT 0.587000 MTHFD1 4522 broad.mit.edu 37 14 64894054 64894054 + Splice_Site SNP G G C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr14:64894054G>C uc001xhb.2 + 12 1515 c.1128_splice c.e12-1 p.G376_splice MTHFD1_uc010aqe.2_Splice_Site_p.G412_splice|MTHFD1_uc010aqf.2_Splice_Site_p.G432_splice NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TCGTCTTGAAGAATAACTCCA 0.423000 CYP19A1 1588 broad.mit.edu 37 15 51503068 51503068 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr15:51503068C>T uc001zyz.3 - 11 1700 c.1449G>A c.(1447-1449)GAG>GAA p.E483E CYP19A1_uc001zza.3_Silent_p.E483E NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 483 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) TGTTTTTAGTCTCATCTGGGT 0.463000 ISLR 3671 broad.mit.edu 37 15 74467619 74467619 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr15:74467619C>T uc002axg.1 + 2 702 c.420C>T c.(418-420)GAC>GAT p.D140D ISLR_uc002axh.1_Silent_p.D140D NM_005545 NP_005536 O14498 ISLR_HUMAN immunoglobulin superfamily containing 140 LRR 4. cell adhesion extracellular region large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TCCCCCGCGACGCCTTCCGCA 0.612000 AXIN1 8312 broad.mit.edu 37 16 339583 339583 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr16:339583G>A uc002cgp.1 - 10 2496 c.2319C>T c.(2317-2319)GGC>GGT p.G773G AXIN1_uc002cgq.1_Silent_p.G737G NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 773 Interaction with PPP2CA. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CACTCCCGCCGCCCACCTTCC 0.647000 C16orf73 254528 broad.mit.edu 37 16 1891975 1891975 + Splice_Site SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr16:1891975C>T uc002cne.2 - 11 999 c.881_splice c.e11-1 p.L294_splice C16orf73_uc010uvq.1_Splice_Site_p.L294_splice|C16orf73_uc010uvr.1_Splice_Site_p.L87_splice NM_152764 NP_689977 Q8N635 CP073_HUMAN hypothetical protein LOC254528 isoform 2 meiosis cytoplasm 0 ATTGTACTTACTAAAAACAGA 0.328000 ITPRIPL2 162073 broad.mit.edu 37 16 19126204 19126204 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr16:19126204G>A uc002dfu.3 + 1 951 c.421G>A c.(421-423)GGT>AGT p.G141S ITPRIPL2_uc002dft.2_5'UTR NM_001034841 NP_001030013 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-triphosphate receptor interacting 141 Cytoplasmic (Potential). integral to membrane skin(2) 2 GGGGTCCCCCGGTCTCATTCC 0.692000 TUFM 7284 broad.mit.edu 37 16 28855126 28855126 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr16:28855126G>A uc002drh.2 - 9 1264 c.1125C>T c.(1123-1125)TCC>TCT p.S375S uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 372 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity ovary(1) 1 GCATGAAGTGGGACACAAAGG 0.587000 HYDIN 54768 broad.mit.edu 37 16 70908761 70908761 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr16:70908761G>A uc002ezr.2 - 63 10744 c.10616C>T c.(10615-10617)GCG>GTG p.A3539V NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3540 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GTAGATATACGCGGTGGTGGG 0.507000 FA2H 79152 broad.mit.edu 37 16 74750315 74750315 + Silent SNP C C A rs144071567 byFrequency TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr16:74750315C>A uc002fde.1 - 6 1037 c.969G>T c.(967-969)CCG>CCT p.P323P FA2H_uc002fdd.1_Silent_p.P96P|FA2H_uc010vmy.1_RNA NM_024306 NP_077282 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 323 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity 0 AGCCCTTGTGCGGCGAGCCAA 0.607000 OVCA2 124641 broad.mit.edu 37 17 1945948 1945948 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr17:1945948G>A uc002ftx.2 + 2 299 c.234G>A c.(232-234)CAG>CAA p.Q78Q DPH1_uc002ftr.1_Intron|DPH1_uc002fts.2_3'UTR|DPH1_uc002ftt.2_3'UTR|DPH1_uc010cjx.2_3'UTR|DPH1_uc010vqs.1_3'UTR|DPH1_uc002ftu.2_3'UTR|DPH1_uc002ftv.2_3'UTR|DPH1_uc002ftw.2_3'UTR NM_080822 NP_543012 Q8WZ82 OVCA2_HUMAN candidate tumor suppressor in ovarian cancer 2 78 response to retinoic acid cytoplasm hydrolase activity 0 TTTCAGAGCAGGAGGCCGACG 0.617000 OREG0024078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZMYND15 84225 broad.mit.edu 37 17 4646694 4646694 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr17:4646694C>T uc002fyt.2 + 6 1280 c.1241C>T c.(1240-1242)CCG>CTG p.P414L ZMYND15_uc002fyv.2_Missense_Mutation_p.P414L|ZMYND15_uc002fyu.2_Missense_Mutation_p.P414L NM_032265 NP_115641 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 isoform 2 414 zinc ion binding 0 ATTCCAGGCCCGGGCTTCTCC 0.632000 MYH4 4622 broad.mit.edu 37 17 10362660 10362660 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr17:10362660G>A uc002gmn.2 - 15 1606 c.1495C>T c.(1495-1497)CTG>TTG p.L499L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 499 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TCCTGCTCCAGCACGAACATG 0.478000 FBXW10 10517 broad.mit.edu 37 17 18675802 18675802 + Missense_Mutation SNP C C T rs150329747 byFrequency TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr17:18675802C>T uc002guk.2 + 12 2316 c.2084C>T c.(2083-2085)ACG>ATG p.T695M FBXW10_uc002guj.2_Missense_Mutation_p.T695M|FBXW10_uc002gul.2_Missense_Mutation_p.T724M|FBXW10_uc010cqh.1_Missense_Mutation_p.T642M NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 695 Potential. ovary(1) 1 GTggaaaaaacgaaacaaaag 0.328000 SLC4A1 6521 broad.mit.edu 37 17 42338119 42338119 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr17:42338119G>A uc002igf.3 - 5 382 c.233C>T c.(232-234)GCG>GTG p.A78V SLC4A1_uc002igg.3_Missense_Mutation_p.A78V NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 78 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCAGCGCGCCGCCTCCATCCA 0.622000 DGKE 8526 broad.mit.edu 37 17 54912541 54912541 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr17:54912541C>T uc002iur.2 + 2 565 c.385C>T c.(385-387)CGG>TGG p.R129W DGKE_uc002ius.1_Missense_Mutation_p.R129W|C17orf67_uc002iuq.2_5'Flank NM_003647 NP_003638 P52429 DGKE_HUMAN diacylglycerol kinase epsilon 129 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(2) 2 Breast(9;3.59e-07) CCACTGGATCCGGGGCAACGT 0.567000 BAHCC1 57597 broad.mit.edu 37 17 79428363 79428363 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr17:79428363C>T uc002kaf.2 + 24 6674 c.6674C>T c.(6673-6675)GCG>GTG p.A2225V BAHCC1_uc002kae.2_Missense_Mutation_p.A1455V NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 2225 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) ACCTGCAAGGCGTTGCTCATG 0.677000 EPB41L3 23136 broad.mit.edu 37 18 5398077 5398077 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr18:5398077C>T uc002kmt.1 - 17 2501 c.2415G>A c.(2413-2415)GCG>GCA p.A805A EPB41L3_uc010wzh.1_Silent_p.A636A|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Silent_p.A110A|EPB41L3_uc010wzf.1_Silent_p.A102A|EPB41L3_uc010wzg.1_Silent_p.A77A|EPB41L3_uc010dkr.2_Silent_p.A197A NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 805 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TTGGTTTTCGCGCAGACTCTA 0.448000 PIGN 23556 broad.mit.edu 37 18 59777079 59777079 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr18:59777079G>A uc002lii.3 - 18 2010 c.1562C>T c.(1561-1563)GCG>GTG p.A521V PIGN_uc002lij.3_Missense_Mutation_p.A521V NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 521 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) TCTTAGAACCGCATACCATAT 0.358000 CYP4F2 8529 broad.mit.edu 37 19 15989736 15989736 + Missense_Mutation SNP C C T rs146148233 TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr19:15989736C>T uc002nbs.1 - 13 1458 c.1408G>A c.(1408-1410)GGG>AGG p.G470R CYP4F2_uc010xot.1_Missense_Mutation_p.G321R NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 470 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 AACGTCTGCCCGATGCAGTTC 0.672000 LSM4 25804 broad.mit.edu 37 19 18420552 18420552 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr19:18420552G>A uc002niq.2 - 4 435 c.264C>T c.(262-264)CGC>CGT p.R88R NM_012321 NP_036453 Q9Y4Z0 LSM4_HUMAN U6 snRNA-associated Sm-like protein 4 88 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing cytosol|U6 snRNP protein binding|RNA binding 0 CTCCGCGGCCGCGGCCCTTGG 0.682000 MED29 55588 broad.mit.edu 37 19 39882040 39882040 + Missense_Mutation SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr19:39882040T>C uc002olf.2 + 1 78 c.41T>C c.(40-42)CTT>CCT p.L14P PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Missense_Mutation_p.L14P|MED29_uc010xux.1_RNA NM_017592 NP_060062 Q9NX70 MED29_HUMAN mediator complex subunit 29 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding ovary(1)|pancreas(1) 2 all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CGTAACGCACTTCCGGCGGTC 0.587000 PHLDB3 653583 broad.mit.edu 37 19 43990419 43990419 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr19:43990419G>A uc002own.3 - 13 1743 c.1484C>T c.(1483-1485)ACG>ATG p.T495M PHLDB3_uc010eit.2_Missense_Mutation_p.T199M NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 495 0 Prostate(69;0.0153) GGGACTGACCGTGATGGCAGG 0.567000 LIN7B 64130 broad.mit.edu 37 19 49619588 49619588 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr19:49619588G>A uc002pmp.2 + 4 341 c.297G>A c.(295-297)ACG>ACA p.T99T NM_022165 NP_071448 Q9HAP6 LIN7B_HUMAN lin-7 homolog B 99 PDZ. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein domain specific binding 0 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01) TACCCAAGACGGATGAGGGCC 0.607000 ZNF610 162963 broad.mit.edu 37 19 52857558 52857558 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr19:52857558C>T uc002pyx.3 + 5 651 c.245C>T c.(244-246)CCC>CTC p.P82L ZNF610_uc002pyy.3_Missense_Mutation_p.P82L|ZNF610_uc002pyz.3_Intron|ZNF610_uc002pza.2_Missense_Mutation_p.P82L NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 82 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AGGAGAGAGCCCTTGATTCTG 0.398000 PPP1R12C 54776 broad.mit.edu 37 19 55606106 55606106 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr19:55606106C>T uc002qix.2 - 12 1531 c.1515G>A c.(1513-1515)CCG>CCA p.P505P PPP1R12C_uc010yfs.1_Silent_p.P431P|PPP1R12C_uc002qiy.2_Silent_p.P504P NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 505 Pro-rich. cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) ATTCAGGCTCCGGAATCCTGG 0.552000 PXDN 7837 broad.mit.edu 37 2 1653281 1653281 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:1653281G>A uc002qxa.2 - 17 2335 c.2271C>T c.(2269-2271)GGC>GGT p.G757G NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 757 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TCAGCGAGGCGCCCCACATGG 0.637000 GREB1 9687 broad.mit.edu 37 2 11750964 11750964 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:11750964G>A uc002rbk.1 + 18 3117 c.2817G>A c.(2815-2817)CCG>CCA p.P939P GREB1_uc002rbo.1_Silent_p.P573P|GREB1_uc002rbp.1_5'Flank NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 939 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCAACTCCCCGAAGCAGTGCC 0.687000 ACTG2 72 broad.mit.edu 37 2 74143812 74143812 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:74143812G>A uc002sjw.2 + 8 1029 c.907G>A c.(907-909)GGC>AGC p.G303S ACTG2_uc010fey.2_Missense_Mutation_p.G303S|ACTG2_uc010yrn.1_Missense_Mutation_p.G260S NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 303 muscle contraction cytoskeleton|cytosol ATP binding 0 CCTCTCTGGGGGCACCACCAT 0.512000 CTNNA2 1496 broad.mit.edu 37 2 79878715 79878715 + Missense_Mutation SNP A A T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:79878715A>T uc010ysh.1 + 1 38 c.33A>T c.(31-33)AAA>AAT p.K11N CTNNA2_uc010yse.1_Missense_Mutation_p.K11N|CTNNA2_uc010ysf.1_Missense_Mutation_p.K11N|CTNNA2_uc010ysg.1_Missense_Mutation_p.K11N|hsa-mir-4264|MI0015877_5'Flank NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 11 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TCATTCTGAAATGGGACCCCA 0.403000 PSD4 23550 broad.mit.edu 37 2 113940394 113940394 + Missense_Mutation SNP G G T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:113940394G>T uc002tjc.2 + 2 544 c.361G>T c.(361-363)GCC>TCC p.A121S PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.A120S|PSD4_uc002tjf.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 121 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GAGCCCCTCTGCCCAGAGGGA 0.627000 WDSUB1 151525 broad.mit.edu 37 2 160132102 160132102 + Missense_Mutation SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:160132102C>A uc002uaj.3 - 4 780 c.631G>T c.(631-633)GAT>TAT p.D211Y WDSUB1_uc002uak.3_Missense_Mutation_p.D211Y|WDSUB1_uc002ual.3_Missense_Mutation_p.D211Y|WDSUB1_uc002uam.3_Missense_Mutation_p.D211Y|WDSUB1_uc010foo.2_Missense_Mutation_p.D211Y NM_152528 NP_689741 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain 211 WD 5. ubiquitin ligase complex ubiquitin-protein ligase activity 0 ACTTGGCAATCCTGACCACAT 0.333000 MYO3B 140469 broad.mit.edu 37 2 171371472 171371472 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:171371472G>A uc002ufy.2 + 29 3555 c.3412G>A c.(3412-3414)GCA>ACA p.A1138T MYO3B_uc002ufv.2_Missense_Mutation_p.A1125T|MYO3B_uc010fqb.1_Missense_Mutation_p.A1125T|MYO3B_uc002ufz.2_Missense_Mutation_p.A1111T|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 1138 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 TTCCCCCGTCGCAGCAGGTAC 0.478000 TTN 7273 broad.mit.edu 37 2 179454415 179454415 + Missense_Mutation SNP A A T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:179454415A>T uc010zfg.1 - 253 54557 c.54333T>A c.(54331-54333)GAT>GAA p.D18111E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D11806E|TTN_uc010zfi.1_Missense_Mutation_p.D11739E|TTN_uc010zfj.1_Missense_Mutation_p.D11614E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19038 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) TCTTTCCTTTATCTGCAATGT 0.448000 ZDBF2 57683 broad.mit.edu 37 2 207172945 207172945 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:207172945G>A uc002vbp.2 + 5 3943 c.3693G>A c.(3691-3693)ACG>ACA p.T1231T NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1231 nucleic acid binding|zinc ion binding ovary(3) 3 AAGTTGACACGGAAGATAGGA 0.423000 C2orf57 165100 broad.mit.edu 37 2 232458738 232458738 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:232458738G>A uc002vrz.2 + 1 1127 c.1076G>A c.(1075-1077)CGT>CAT p.R359H NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 359 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) ACCATCACCCGTGTGCTGGAG 0.687000 GPR35 2859 broad.mit.edu 37 2 241569891 241569891 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr2:241569891G>A uc002vzs.1 + 1 1097 c.522G>A c.(520-522)GCG>GCA p.A174A GPR35_uc010fzh.1_Silent_p.A205A|GPR35_uc010fzi.1_Silent_p.A205A NM_005301 NP_005292 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 174 Extracellular (Potential). A -> R (in Ref. 1; AAC52028). integral to plasma membrane G-protein coupled receptor activity skin(2)|pancreas(1) 3 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) ACTCCATGGCGTTCCCGCTGC 0.662000 BPI 671 broad.mit.edu 37 20 36932707 36932707 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr20:36932707G>A uc002xib.2 + 1 156 c.94G>A c.(94-96)GTC>ATC p.V32I NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 32 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) GACAGCGGCCGTCAACCCTGG 0.607000 ARFGEF2 10564 broad.mit.edu 37 20 47589805 47589805 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr20:47589805G>A uc002xtx.3 + 12 1801 c.1649G>A c.(1648-1650)GGA>GAA p.G550E NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 550 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CATGAGCTGGGAATGACACCT 0.289000 CLDN14 23562 broad.mit.edu 37 21 37833744 37833744 + Missense_Mutation SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr21:37833744T>C uc002yvk.1 - 2 392 c.250A>G c.(250-252)ATG>GTG p.M84V CLDN14_uc002yvn.1_Missense_Mutation_p.M84V|CLDN14_uc002yvo.1_Missense_Mutation_p.M84V|CLDN14_uc002yvl.1_Missense_Mutation_p.M84V|CLDN14_uc002yvm.1_Missense_Mutation_p.M84V NM_012130 NP_036262 O95500 CLD14_HUMAN claudin 14 84 Helical; (Potential). calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 GAGATGACCATGAGGGCGCGG 0.652000 LSS 4047 broad.mit.edu 37 21 47636354 47636354 + Silent SNP G G A rs138974013 TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr21:47636354G>A uc002zij.2 - 7 811 c.732C>T c.(730-732)TAC>TAT p.Y244Y LSS_uc011afv.1_Silent_p.Y233Y|LSS_uc002zil.2_Silent_p.Y244Y|LSS_uc002zik.2_Silent_p.Y164Y NM_001001438 NP_001001438 P48449 ERG7_HUMAN lanosterol synthase isoform 1 244 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity 0 Breast(49;0.214) GCCGAACGGCGTAGCAGTAGC 0.652000 POLR2F 5435 broad.mit.edu 37 22 38352790 38352790 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr22:38352790G>A uc003aul.2 + 2 152 c.31G>A c.(31-33)GAC>AAC p.D11N POLR2F_uc010gxi.2_5'UTR|POLR2F_uc003aum.2_RNA NM_021974 NP_068809 P61218 RPAB2_HUMAN DNA directed RNA polymerase II polypeptide F 11 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1) 1 Melanoma(58;0.045) TTTTGATGGCGACGACTTTGA 0.398000 C22orf40 150383 broad.mit.edu 37 22 46640993 46640993 + Missense_Mutation SNP G G A rs151250954 TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr22:46640993G>A uc003bhe.2 - 4 409 c.368C>T c.(367-369)ACG>ATG p.T123M C22orf40_uc003bhc.2_3'UTR|C22orf40_uc003bhd.2_Missense_Mutation_p.T118M|C22orf40_uc003bhf.2_RNA NM_207327 NP_997210 Q6NVV7 CV040_HUMAN hypothetical protein LOC150383 123 0 TTGCACTCACGTCCGAGAACC 0.612000 TUBGCP6 85378 broad.mit.edu 37 22 50682244 50682244 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr22:50682244G>A uc003bkb.1 - 1 1157 c.645C>T c.(643-645)TTC>TTT p.F215F TUBGCP6_uc010har.1_Silent_p.F215F|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.F215F NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 215 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CAAGGGCCCCGAAGAGCGAGA 0.627000 GOLGA4 2803 broad.mit.edu 37 3 37365781 37365781 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr3:37365781G>A uc003cgv.2 + 14 2708 c.2404G>A c.(2404-2406)GTT>ATT p.V802I GOLGA4_uc010hgr.1_Missense_Mutation_p.V363I|GOLGA4_uc003cgw.2_Missense_Mutation_p.V824I|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.V683I NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 802 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 TAAGCTGGACGTTTTTCAGTC 0.443000 SLC38A3 10991 broad.mit.edu 37 3 50254855 50254855 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr3:50254855G>A uc003cyn.3 + 9 781 c.640G>A c.(640-642)GGC>AGC p.G214S SLC38A3_uc011bdl.1_Missense_Mutation_p.G189S|SLC38A3_uc011bdm.1_Missense_Mutation_p.G145S NM_006841 NP_006832 Q99624 S38A3_HUMAN solute carrier family 38, member 3 214 Helical; (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) AGGCTACCTGGGCTACTCCAG 0.592000 DNAH1 25981 broad.mit.edu 37 3 52380535 52380535 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr3:52380535C>T uc011bef.1 + 11 1965 c.1704C>T c.(1702-1704)GCC>GCT p.A568A DNAH1_uc003ddt.1_Silent_p.A568A NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 568 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TAAAGGTGGCCATGCGCAGCA 0.582000 DNAH1 25981 broad.mit.edu 37 3 52417495 52417495 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr3:52417495G>A uc011bef.1 + 51 8296 c.8035G>A c.(8035-8037)GTC>ATC p.V2679I DNAH1_uc003ddv.2_5'Flank NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2679 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGACCAGATCGTCAGCACCAT 0.542000 DNAH1 25981 broad.mit.edu 37 3 52426895 52426895 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr3:52426895G>A uc011bef.1 + 65 10589 c.10328G>A c.(10327-10329)CGC>CAC p.R3443H DNAH1_uc003ddv.2_Missense_Mutation_p.R301H NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3508 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GACCTGACGCGCATGGAGTAC 0.592000 NCK1 4690 broad.mit.edu 37 3 136664893 136664893 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr3:136664893G>A uc003erh.2 + 3 802 c.695G>A c.(694-696)TGC>TAC p.C232Y NCK1_uc011bme.1_Missense_Mutation_p.C168Y NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 232 SH3 3. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 TGGTGGAAATGCAGGAAGATC 0.383000 ZBTB38 253461 broad.mit.edu 37 3 141164795 141164795 + Missense_Mutation SNP G G A rs76129297 TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr3:141164795G>A uc003etw.2 + 8 4547 c.3565G>A c.(3565-3567)GGT>AGT p.G1189S ZBTB38_uc010hun.2_Missense_Mutation_p.G1186S|ZBTB38_uc010huo.2_Missense_Mutation_p.G1189S|ZBTB38_uc003ety.2_Missense_Mutation_p.G1189S|ZBTB38_uc010hup.2_Missense_Mutation_p.G1190S NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 1189 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CATACAAACCGGTGTGGAAAA 0.343000 PIK3CA 5290 broad.mit.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C rs121913272 TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr3:178927980T>C uc003fjk.2 + 8 1415 c.1258T>C c.(1258-1260)TGT>CGT p.C420R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 420 C2 PI3K-type. C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.C420R(26) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TAAGGAACACTGTCCATTGGC 0.328000 C420R(EFM192A_BREAST)|C420R(OVISE_OVARY)|C420R(HEC151_ENDOMETRIUM)|C420R(CCK81_LARGE_INTESTINE) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) KCTD8 386617 broad.mit.edu 37 4 44449880 44449880 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr4:44449880G>A uc003gwu.2 - 1 945 c.661C>T c.(661-663)CGC>TGC p.R221C NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 221 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TGGTTGTCGCGCACGGTGGTG 0.542000 HNSCC(17;0.042) C4orf33 132321 broad.mit.edu 37 4 130030790 130030790 + Missense_Mutation SNP C C G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr4:130030790C>G uc003igu.3 + 5 821 c.457C>G c.(457-459)CCT>GCT p.P153A C4orf33_uc010ioc.1_Missense_Mutation_p.P153A|C4orf33_uc010iod.2_Missense_Mutation_p.P153A NM_173487 NP_775758 Q8N1A6 CD033_HUMAN hypothetical protein LOC132321 153 upper_aerodigestive_tract(1) 1 TTACCCTGTACCTCAGCATGA 0.333000 NR3C2 4306 broad.mit.edu 37 4 149041319 149041319 + Silent SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr4:149041319T>C uc003ilj.3 - 7 2965 c.2631A>G c.(2629-2631)CTA>CTG p.L877L NR3C2_uc003ilk.3_Silent_p.L760L|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 877 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) TTGTGCTTAGTAGCAGCAAAA 0.428000 FYB 2533 broad.mit.edu 37 5 39202557 39202557 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr5:39202557G>A uc003jls.2 - 1 573 c.506C>T c.(505-507)GCG>GTG p.A169V FYB_uc003jlt.2_Missense_Mutation_p.A169V|FYB_uc003jlu.2_Missense_Mutation_p.A169V|FYB_uc011cpl.1_Missense_Mutation_p.A179V NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 169 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) TTTGGGAAACGCTTGCTTCTG 0.488000 POU5F2 134187 broad.mit.edu 37 5 93077167 93077167 + Missense_Mutation SNP A A C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr5:93077167A>C uc003kkl.1 - 1 143 c.103T>G c.(103-105)TTG>GTG p.L35V FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron NM_153216 NP_694948 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 35 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) TGGGTGCTCAACCAGGTCAGA 0.697000 YTHDC2 64848 broad.mit.edu 37 5 112888990 112888990 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr5:112888990G>A uc003kqn.2 + 13 1984 c.1801G>A c.(1801-1803)GAT>AAT p.D601N YTHDC2_uc010jce.1_Missense_Mutation_p.D601N|YTHDC2_uc010jcf.1_Missense_Mutation_p.D301N NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 601 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TAGTTTCGATGATGAAAAAGT 0.373000 P4HA2 8974 broad.mit.edu 37 5 131552925 131552925 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr5:131552925G>A uc003kwh.2 - 4 860 c.296C>T c.(295-297)GCG>GTG p.A99V P4HA2_uc003kwg.2_Missense_Mutation_p.A99V|P4HA2_uc003kwi.2_Missense_Mutation_p.A99V|P4HA2_uc003kwk.2_Missense_Mutation_p.A99V|P4HA2_uc003kwl.2_Missense_Mutation_p.A99V|P4HA2_uc003kwj.2_Missense_Mutation_p.A99V NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 99 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) GTCCTCCAGCGCAGGCCAGTC 0.567000 BRD8 10902 broad.mit.edu 37 5 137475855 137475855 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr5:137475855C>T uc003lcf.1 - 27 3671 c.3616G>A c.(3616-3618)GTA>ATA p.V1206I BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 1206 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATATTCAGTACCTAAAGGGTT 0.368000 PCDHB8 56128 broad.mit.edu 37 5 140559781 140559781 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr5:140559781G>A uc011dai.1 + 1 2352 c.2166G>A c.(2164-2166)TCG>TCA p.S722S PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 722 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGGCCTCGGTGGGTCGCT 0.642000 SH3RF2 153769 broad.mit.edu 37 5 145317619 145317619 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr5:145317619C>T uc003lnt.2 + 2 366 c.128C>T c.(127-129)GCC>GTC p.A43V SH3RF2_uc011dbl.1_Missense_Mutation_p.A43V NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 43 RING-type. ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTTTTCAAGGCCCACAAAGAG 0.577000 PCYOX1L 78991 broad.mit.edu 37 5 148748009 148748009 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr5:148748009C>T uc003lqk.2 + 6 1339 c.1277C>T c.(1276-1278)CCC>CTC p.P426L PCYOX1L_uc003lql.2_Missense_Mutation_p.P409L|PCYOX1L_uc010jgz.2_Missense_Mutation_p.P350L|PCYOX1L_uc003lqm.2_Missense_Mutation_p.P308L|PCYOX1L_uc003lqn.2_Missense_Mutation_p.P336L NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like precursor 426 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGCCCATCCCCTCTATGGC 0.612000 EBF1 1879 broad.mit.edu 37 5 158158138 158158138 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr5:158158138C>T uc010jip.2 - 11 1366 c.1064G>A c.(1063-1065)GGT>GAT p.G355D EBF1_uc011ddw.1_Missense_Mutation_p.G223D|EBF1_uc011ddx.1_Missense_Mutation_p.G356D|EBF1_uc003lxl.3_Missense_Mutation_p.G324D NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 355 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTCTGGAAACCATAATCGAT 0.433000 T HMGA2 lipoma PKHD1 5314 broad.mit.edu 37 6 51512896 51512896 + Silent SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr6:51512896C>A uc003pah.1 - 63 11607 c.11331G>T c.(11329-11331)CTG>CTT p.L3777L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3777 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AAGGAGGTCCCAGGGACTCTA 0.418000 COL12A1 1303 broad.mit.edu 37 6 75893230 75893230 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr6:75893230C>T uc003phs.2 - 10 1593 c.1427G>A c.(1426-1428)AGG>AAG p.R476K COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.R134K NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 476 VWFA 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 AATCTGGACCCTATTTGGTGA 0.353000 SLC35D3 340146 broad.mit.edu 37 6 137245222 137245222 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr6:137245222C>T uc003qhe.2 + 2 804 c.639C>T c.(637-639)CAC>CAT p.H213H NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 213 carbohydrate transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) ACTCCATCCACGCCTGGACCT 0.657000 GRM1 2911 broad.mit.edu 37 6 146720544 146720544 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr6:146720544C>T uc010khw.1 + 8 2839 c.2369C>T c.(2368-2370)ACC>ATC p.T790I GRM1_uc010khv.1_Missense_Mutation_p.T790I|GRM1_uc003qll.2_Missense_Mutation_p.T790I|GRM1_uc011edz.1_Missense_Mutation_p.T790I|GRM1_uc011eea.1_Missense_Mutation_p.T790I NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 790 Helical; Name=6; (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) ATCGCGTTCACCATGTACACC 0.478000 SYNE1 23345 broad.mit.edu 37 6 152651705 152651705 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr6:152651705G>A uc010kiw.2 - 78 14717 c.14115C>T c.(14113-14115)GCC>GCT p.A4705A SYNE1_uc003qot.3_Silent_p.A4634A|SYNE1_uc003qou.3_Silent_p.A4705A|SYNE1_uc010kiz.2_Silent_p.A460A NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4705 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) CCTCCTCAACGGCCAGGTCGG 0.522000 HNSCC(10;0.0054) PDGFA 5154 broad.mit.edu 37 7 552006 552006 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr7:552006G>A uc003sir.2 - 3 1090 c.247C>T c.(247-249)CGG>TGG p.R83W PDGFA_uc003sis.2_Missense_Mutation_p.R83W|PDGFA_uc003sit.1_Missense_Mutation_p.R97W NM_002607 NP_002598 P04085 PDGFA_HUMAN platelet-derived growth factor alpha isoform 1 83 actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15) CTCTTCCTCCGAATGGGCAGG 0.398000 URGCP 55665 broad.mit.edu 37 7 43917871 43917871 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr7:43917871G>A uc003tiw.2 - 6 1248 c.1191C>T c.(1189-1191)AAC>AAT p.N397N URGCP_uc003tiu.2_Silent_p.N354N|URGCP_uc003tiv.2_Silent_p.N322N|URGCP_uc003tix.2_Silent_p.N388N|URGCP_uc003tiy.2_Silent_p.N354N|URGCP_uc003tiz.2_Silent_p.N354N|URGCP_uc011kbj.1_Silent_p.N354N NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 397 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 GAAATCTCAGGTTTGTGTTGC 0.438000 ADCY1 107 broad.mit.edu 37 7 45614571 45614571 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr7:45614571C>T uc003tne.3 + 1 447 c.429C>T c.(427-429)GGC>GGT p.G143G ADCY1_uc003tnd.2_5'UTR NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 143 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCGCGCTgggcggccccgccc 0.507000 MUC17 140453 broad.mit.edu 37 7 100678664 100678664 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr7:100678664G>A uc003uxp.1 + 3 4020 c.3967G>A c.(3967-3969)GAA>AAA p.E1323K MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1323 Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TACACCTGCTGAAGGTACCAG 0.468000 MUC17 140453 broad.mit.edu 37 7 100684284 100684284 + Missense_Mutation SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr7:100684284C>A uc003uxp.1 + 3 9640 c.9587C>A c.(9586-9588)ACC>AAC p.T3196N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3196 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACACCTGTGACCACTTCTACT 0.468000 IFRD1 3475 broad.mit.edu 37 7 112102348 112102348 + Missense_Mutation SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr7:112102348T>C uc003vgh.2 + 9 1264 c.821T>C c.(820-822)CTC>CCC p.L274P IFRD1_uc011kmn.1_Missense_Mutation_p.L224P|IFRD1_uc003vgj.2_Missense_Mutation_p.L274P|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.L224P NM_001007245 NP_001007246 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 274 multicellular organismal development|myoblast cell fate determination binding kidney(1)|central_nervous_system(1) 2 CTTCCAAGCCTCCTCTCTTGT 0.353000 FAM180A 389558 broad.mit.edu 37 7 135418743 135418743 + Missense_Mutation SNP G G T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr7:135418743G>T uc003vtd.2 - 3 768 c.502C>A c.(502-504)CAG>AAG p.Q168K FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Missense_Mutation_p.Q168K NM_205855 NP_995327 Q6UWF9 F180A_HUMAN hypothetical protein LOC389558 precursor 168 extracellular region ovary(2) 2 ACTCCCGGCTGTGAGGAGCGC 0.587000 FAM135B 51059 broad.mit.edu 37 8 139209873 139209873 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr8:139209873C>T uc003yuy.2 - 8 880 c.709G>A c.(709-711)GCA>ACA p.A237T FAM135B_uc003yux.2_Missense_Mutation_p.A138T|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 237 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CACTTGTGTGCGTGCTGCATG 0.582000 HNSCC(54;0.14) PLEC 5339 broad.mit.edu 37 8 144997456 144997456 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr8:144997456G>A uc003zaf.1 - 31 7222 c.7052C>T c.(7051-7053)GCG>GTG p.A2351V PLEC_uc003zab.1_Missense_Mutation_p.A2214V|PLEC_uc003zac.1_Missense_Mutation_p.A2218V|PLEC_uc003zad.2_Missense_Mutation_p.A2214V|PLEC_uc003zae.1_Missense_Mutation_p.A2182V|PLEC_uc003zag.1_Missense_Mutation_p.A2192V|PLEC_uc003zah.2_Missense_Mutation_p.A2200V|PLEC_uc003zaj.2_Missense_Mutation_p.A2241V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2351 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGTGGCCTCCGCCTTCAGCCG 0.662000 FAM166B 730112 broad.mit.edu 37 9 35562915 35562915 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr9:35562915G>A uc010mkr.2 - 3 520 c.449C>T c.(448-450)CCG>CTG p.P150L FAM166B_uc011lov.1_Missense_Mutation_p.P150L|FAM166B_uc011low.1_Missense_Mutation_p.P150L|FAM166B_uc003zwy.2_Missense_Mutation_p.P150L NM_001164310 NP_001157782 A8MTA8 F166B_HUMAN hypothetical protein LOC730112 isoform 1 150 0 CTGCCCCTCCGGCTCTGGCAC 0.567000 PPP3R2 5535 broad.mit.edu 37 9 104356919 104356919 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr9:104356919C>T uc004bbr.2 - 1 365 c.294G>A c.(292-294)GCG>GCA p.A98A GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 95 EF-hand 3. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) AAATGCTGAACGCAAACCTCA 0.537000 NUP188 23511 broad.mit.edu 37 9 131768031 131768031 + Silent SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr9:131768031T>C uc004bws.1 + 41 4867 c.4845T>C c.(4843-4845)AAT>AAC p.N1615N NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1615 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 CCACAGTGAATGTGGCCCTCA 0.502000 FBXW5 54461 broad.mit.edu 37 9 139835750 139835750 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr9:139835750G>A uc004cjx.2 - 8 1561 c.1410C>T c.(1408-1410)GAC>GAT p.D470D FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Silent_p.D218D|FBXW5_uc004cjz.2_Silent_p.D200D NM_018998 NP_061871 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 470 WD 2. catalytic activity|protein binding 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) AGAAGCACTCGTCGTTGGGCG 0.682000 C9orf140 89958 broad.mit.edu 37 9 139960781 139960781 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr9:139960781C>T uc011men.1 - 2 733 c.617G>A c.(616-618)CGG>CAG p.R206Q NM_178448 NP_848543 Q86UD0 CI140_HUMAN tumor specificity and mitosis phase-dependent 206 cytoplasm|nucleus skin(1) 1 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;3.02e-05)|Epithelial(140;0.000499) GGGAGCCCGCCGGGCATCCCC 0.711000 BCOR 54880 broad.mit.edu 37 X 39931763 39931763 + Nonsense_Mutation SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chrX:39931763C>A uc004den.3 - 4 3128 c.2836G>T c.(2836-2838)GAG>TAG p.E946* BCOR_uc004dep.3_Nonsense_Mutation_p.E946*|BCOR_uc004deo.3_Nonsense_Mutation_p.E946*|BCOR_uc004dem.3_Nonsense_Mutation_p.E946*|BCOR_uc004deq.3_Nonsense_Mutation_p.E946* NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 946 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 GATTCAGCCTCATCAGCTCCA 0.488000 CNKSR2 22866 broad.mit.edu 37 X 21627677 21627678 + In_Frame_Ins INS - - GAG TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chrX:21627677_21627678insGAG uc004czx.1 + 20 2670_2671 c.2634_2635insGAG c.(2632-2637)insGAG p.886_887insE CNKSR2_uc004czw.2_In_Frame_Ins_p.886_887insE|CNKSR2_uc011mjn.1_In_Frame_Ins_p.837_838insE|CNKSR2_uc011mjo.1_In_Frame_Ins_p.856_857insE|CNKSR2_uc004czy.2_In_Frame_Ins_p.478_479insE NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 886_887 Potential.|Poly-Glu. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 aggtggaggaagaggaggagga 0.376 ARID2 196528 broad.mit.edu 37 12 46298723 46298724 + Frame_Shift_Del DEL AA AA - TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chr12:46298722_46298723TAA>T uc001ros.1 + 20 5369_5370 c.5369_5370TAA>T c.(5368-5370)ttafs p.L1790fs ARID2_uc009zkg.1_Frame_Shift_Del_p.L1246fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.L1417fs|ARID2_uc001rou.1_3'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1790 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGCAGATTGTTAAAGAGACATG 0.337 """N, S, F""" hepatocellular carcinoma CNKSR2 22866 broad.mit.edu 37 X 21627678 21627679 + In_Frame_Ins INS - - GAG TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 g.chrX:21627677_21627678A>AGAG uc004czx.2 + 19 3114_3115 c.2634_2635A>AGAG c.(2632-2637)gaagag>gaAGAGag p.878_879EE>EE CNKSR2_uc004czw.3_In_Frame_Ins_p.878_879EE>EE|CNKSR2_uc011mjn.2_In_Frame_Ins_p.829_830EE>EE|CNKSR2_uc011mjo.2_In_Frame_Ins_p.848_849EE>EE|CNKSR2_uc004czy.3_In_Frame_Ins_p.470_471EE>EE NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA. 878 Poly-Glu. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 aggtggaggaagaggaggagga 0.515