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 MACF1 23499 broad.mit.edu 37 1 39750772 39750772 + Silent SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr1:39750772C>T uc010ois.1 + 13 1369 c.1164C>T c.(1162-1164)GGC>GGT p.G388G MACF1_uc001cda.1_Silent_p.G296G NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 388 LRR 3. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTGAATTTGGCCGAATTAAAC 0.433 ANKRD34A 284615 broad.mit.edu 37 1 145473561 145473561 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr1:145473561G>A uc001enq.1 + 4 1526 c.233G>A c.(232-234)CGC>CAC p.R78H NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 78 ANK 3. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGATTAGGGCGCACGGCGCTC 0.706 MTMR11 10903 broad.mit.edu 37 1 149901667 149901667 + Missense_Mutation SNP T C C TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr1:149901667T>C uc001etl.3 - 16 2040 c.1789A>G c.(1789-1791)ATC>GTC p.I597V SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.I525V NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 597 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TCAGAGGAGATAGCAGGTCGA 0.597 LYST 1130 broad.mit.edu 37 1 235993676 235993676 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr1:235993676G>A uc001hxj.2 - 3 217 c.42C>T c.(40-42)ACC>ACT p.T14T LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.T14T|LYST_uc001hxm.2_RNA|LYST_uc001hxn.1_Silent_p.T14T NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 14 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGTTGACATCGGTCAGAAATT 0.458 Chediak-Higashi_syndrome OR2AK2 391191 broad.mit.edu 37 1 248128698 248128698 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr1:248128698G>A uc010pzd.1 + 1 65 c.65G>A c.(64-66)AGT>AAT p.S22N OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S22R(1) ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GGAAATCAAAGTTTTGGGACA 0.279 OR2T33 391195 broad.mit.edu 37 1 248436720 248436720 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr1:248436720G>A uc010pzi.1 - 1 397 c.397C>T c.(397-399)CTC>TTC p.L133F NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CAGCTCATGAGAGTGGGATAT 0.592 ARHGAP21 57584 broad.mit.edu 37 10 24874106 24874106 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr10:24874106G>A uc001isb.2 - 26 5599 c.5112C>T c.(5110-5112)TCC>TCT p.S1704S ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1703 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 ATTTTTTCCTGGAAAGAGTAT 0.393 CUL2 8453 broad.mit.edu 37 10 35299303 35299303 + Missense_Mutation SNP A T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr10:35299303A>T uc001ixv.2 - 21 2384 c.2174T>A c.(2173-2175)CTG>CAG p.L725Q CUL2_uc009xma.2_Missense_Mutation_p.L594Q|CUL2_uc010qer.1_Missense_Mutation_p.L744Q|CUL2_uc001ixw.2_Missense_Mutation_p.L725Q NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 725 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 TTTGTCTATCAGAACTTCAAT 0.463 ZNF37A 7587 broad.mit.edu 37 10 38404217 38404217 + Silent SNP G T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr10:38404217G>T uc001izk.2 + 7 1056 c.237G>T c.(235-237)CTG>CTT p.L79L ZNF37A_uc001izl.2_Silent_p.L79L|ZNF37A_uc001izm.2_Silent_p.L79L NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 79 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 AGAGTCATCTGGGTGAGTTAG 0.393 LRRC18 474354 broad.mit.edu 37 10 50121795 50121795 + Missense_Mutation SNP C T T rs138127999 TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr10:50121795C>T uc001jhd.2 - 1 486 c.406G>A c.(406-408)GTG>ATG p.V136M WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.V136M NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 136 LRR 5. cytoplasm ovary(1)|pancreas(1) 2 GTGGTGGGCACGCTGTCCAGG 0.602 CHAT 1103 broad.mit.edu 37 10 50870733 50870733 + Missense_Mutation SNP C T T rs116097791 by1000genomes TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr10:50870733C>T uc001jhz.2 + 14 2035 c.1882C>T c.(1882-1884)CGG>TGG p.R628W CHAT_uc001jhv.1_Missense_Mutation_p.R510W|CHAT_uc001jhx.1_Missense_Mutation_p.R510W|CHAT_uc001jhy.1_Missense_Mutation_p.R510W|CHAT_uc001jia.2_Missense_Mutation_p.R510W|CHAT_uc010qgs.1_Missense_Mutation_p.R510W NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 628 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GCTGGCACTGCGGGAGCTGGC 0.572 PTEN 5728 broad.mit.edu 37 10 89692829 89692829 + Missense_Mutation SNP T C C TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr10:89692829T>C uc001kfb.2 + 6 1344 c.313T>C c.(313-315)TGT>CGT p.C105R NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 105 Phosphatase tensin-type. C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.C105F(6)|p.R55fs*1(4)|p.C105W(4)|p.C105S(3)|p.?(2)|p.Y27fs*1(2)|p.C105Y(2)|p.Y27_N212>Y(2)|p.C105fs*1(1)|p.C105fs*2(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAAACCCTTTTGTGAAGATCT 0.378 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) OR5T3 390154 broad.mit.edu 37 11 56020589 56020589 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr11:56020589C>T uc010rjd.1 + 1 914 c.914C>T c.(913-915)TCA>TTA p.S305L NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 305 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) ATCATAGTGTCAATATTTTAC 0.368 ANO2 57101 broad.mit.edu 37 12 5724431 5724431 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr12:5724431G>A uc001qnm.2 - 18 1921 c.1849C>T c.(1849-1851)CGC>TGC p.R617C NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 622 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 AGGATCAGGCGCTCTTCAAAA 0.458 LRRK2 120892 broad.mit.edu 37 12 40689281 40689281 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr12:40689281G>A uc001rmg.3 + 23 3052 c.2931G>A c.(2929-2931)CTG>CTA p.L977L LRRK2_uc001rmh.1_Silent_p.L599L|LRRK2_uc009zjw.2_5'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 977 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTTCTTCTCTGGCTTCTGAGA 0.343 LRRIQ1 84125 broad.mit.edu 37 12 85460676 85460676 + Nonsense_Mutation SNP G T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr12:85460676G>T uc001tac.2 + 10 2806 c.2695G>T c.(2695-2697)GGA>TGA p.G899* LRRIQ1_uc001tab.1_Nonsense_Mutation_p.G899* NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 899 LRR 4. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TACTCGAATTGGTAAGAACAA 0.274 CHD8 57680 broad.mit.edu 37 14 21860669 21860673 + Frame_Shift_Del DEL TTTGA - - TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr14:21860669_21860673delTTTGA uc001was.1 - 34 6021_6025 c.5927_5931delTCAAA c.(5926-5931)ATCAAAfs p.I1976fs CHD8_uc001war.1_Frame_Shift_Del_p.I1872fs|SNORD9_uc001wat.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2255_2256 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AGCTTACATCTTTGATTTGAACTGT 0.468 MYH6 4624 broad.mit.edu 37 14 23869930 23869930 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr14:23869930G>A uc001wjv.2 - 13 1465 c.1398C>T c.(1396-1398)TTC>TTT p.F466F MYH6_uc010akp.1_Silent_p.F466F NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 466 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CGAAGATCTCGAAGCCAGCGA 0.438 DICER1 23405 broad.mit.edu 37 14 95569923 95569923 + Silent SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr14:95569923C>T uc001ydw.2 - 22 3992 c.3810G>A c.(3808-3810)GTG>GTA p.V1270V DICER1_uc010avh.1_Silent_p.V168V|DICER1_uc001ydv.2_Silent_p.V1260V|DICER1_uc001ydx.2_Silent_p.V1270V|DICER1_uc001ydy.1_Silent_p.V122V NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1270 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TGCCCTTGAGCACTTGAATAG 0.468 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ OR4N3P 390539 broad.mit.edu 37 15 22413748 22413748 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr15:22413748G>A uc001yuf.2 + 1 47 c.47G>A c.(46-48)GGC>GAC p.G16D NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 TCCTACAGAGGCTGCATCACT 0.517 RYR3 6263 broad.mit.edu 37 15 33895352 33895352 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr15:33895352G>A uc001zhi.2 + 18 2021 c.1951G>A c.(1951-1953)GCG>ACG p.A651T RYR3_uc010bar.2_Missense_Mutation_p.A651T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 651 Cytoplasmic (By similarity).|B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTGGGAGTCGCGGAGGGCTC 0.527 MFAP1 4236 broad.mit.edu 37 15 44105497 44105497 + Missense_Mutation SNP C G G TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr15:44105497C>G uc001zth.1 - 5 860 c.676G>C c.(676-678)GAG>CAG p.E226Q NM_005926 NP_005917 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 226 microfibril skin(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) GCTTCCTGCTCCAGCTCCTTC 0.483 STUB1 10273 broad.mit.edu 37 16 731823 731823 + Missense_Mutation SNP G T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr16:731823G>T uc002cit.2 + 4 966 c.555G>T c.(553-555)GAG>GAT p.E185D STUB1_uc002ciu.2_Missense_Mutation_p.E113D|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR NM_005861 NP_005852 Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1 185 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity 0 Hepatocellular(780;0.00335) GAAACCACGAGGGTGATGAGG 0.637 SEC14L5 9717 broad.mit.edu 37 16 5053502 5053502 + Missense_Mutation SNP C A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr16:5053502C>A uc002cye.2 + 11 1410 c.1230C>A c.(1228-1230)GAC>GAA p.D410E NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 410 CRAL-TRIO. integral to membrane|intracellular transporter activity 0 TGGTTGAGGACAATTACCCAG 0.647 SMG1 23049 broad.mit.edu 37 16 18875017 18875018 + Frame_Shift_Del DEL GT - - TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr16:18875017_18875018delGT uc002dfm.2 - 25 4012_4013 c.3649_3650delAC c.(3649-3651)ACCfs p.T1217fs SMG1_uc010bwb.2_Frame_Shift_Del_p.T1077fs NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1217 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AGTGCTACTGGTACTCTTTTTC 0.366 IL4R 3566 broad.mit.edu 37 16 27363906 27363906 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr16:27363906G>A uc002don.2 + 7 801 c.559G>A c.(559-561)GCA>ACA p.A187T IL4R_uc002dom.2_Missense_Mutation_p.A187T|IL4R_uc002dop.3_Missense_Mutation_p.A172T|IL4R_uc010bxy.2_Missense_Mutation_p.A187T|IL4R_uc002doo.2_Missense_Mutation_p.A27T NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 187 Extracellular (Potential).|Fibronectin type-III. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 CCTCCGCATCGCAGCCAGCAC 0.592 MT1E 4493 broad.mit.edu 37 16 56660826 56660826 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr16:56660826G>A uc002ejl.2 + 3 308 c.129G>A c.(127-129)AAG>AAA p.K43K MT1A_uc002eji.2_Intron|MT1M_uc010vhe.1_Intron|MT1E_uc002ejm.2_3'UTR NM_175617 NP_783316 P04732 MT1E_HUMAN metallothionein 1E 43 Alpha. cytoplasm cadmium ion binding|copper ion binding|zinc ion binding 0 GCTGTGCCAAGTGTGCCCAGG 0.597 SETD6 79918 broad.mit.edu 37 16 58552049 58552049 + Missense_Mutation SNP T C C TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr16:58552049T>C uc002ens.2 + 6 946 c.887T>C c.(886-888)ATG>ACG p.M296T SETD6_uc002enr.2_Missense_Mutation_p.M272T|SETD6_uc010cdm.2_RNA NM_001160305 NP_001153777 Q8TBK2 SETD6_HUMAN SET domain containing 6 isoform a 296 negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity ovary(1) 1 CTGATTCATATGTACGGTTTT 0.448 ATP6V0D1 9114 broad.mit.edu 37 16 67477049 67477049 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr16:67477049C>T uc002ete.1 - 4 614 c.514G>A c.(514-516)GAC>AAC p.D172N ATP6V0D1_uc010vjo.1_Missense_Mutation_p.D213N|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.D95N NM_004691 NP_004682 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal, V0 subunit 172 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) TCGTCAAGGTCCTGCTCTGAA 0.562 CDH1 999 broad.mit.edu 37 16 68855965 68855965 + Silent SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr16:68855965C>T uc002ewg.1 + 12 1897 c.1773C>T c.(1771-1773)AAC>AAT p.N591N CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.N530N NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 591 Extracellular (Potential).|Cadherin 4. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TGAATGACAACGCCCCCATAC 0.458 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer DNAH2 146754 broad.mit.edu 37 17 7663139 7663139 + Missense_Mutation SNP G A A rs112194246 TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr17:7663139G>A uc002giu.1 + 16 2682 c.2668G>A c.(2668-2670)GCA>ACA p.A890T NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 890 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCAGACTTTGGCAGGTGTGGT 0.522 ZNF624 57547 broad.mit.edu 37 17 16526500 16526500 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr17:16526500C>T uc010cpi.1 - 6 1783 c.1700G>A c.(1699-1701)CGT>CAT p.R567H NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 567 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGAAGAAGAACGCATGAAGGC 0.368 RAD51C 5889 broad.mit.edu 37 17 56772380 56772380 + Silent SNP A G G TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr17:56772380A>G uc002iwu.2 + 2 276 c.234A>G c.(232-234)ACA>ACG p.T78T TEX14_uc002iwr.1_5'Flank|TEX14_uc002iws.1_5'Flank|TEX14_uc010dcz.1_5'Flank|TEX14_uc010dda.1_5'Flank|TEX14_uc010wnz.1_5'Flank|RAD51C_uc002iwt.1_Silent_p.T78T|RAD51C_uc010woa.1_Silent_p.T78T|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 78 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATGCTGGTACATCTGAGTCAC 0.398 Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 ACE 1636 broad.mit.edu 37 17 61554654 61554654 + Frame_Shift_Del DEL G - - TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr17:61554654delG uc002jau.1 + 1 221 c.199delG c.(199-201)GCCfs p.A67fs ACE_uc010wph.1_Frame_Shift_Del_p.A67fs|ACE_uc010wpi.1_Frame_Shift_Del_p.A67fs|ACE_uc010ddu.1_5'UTR NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 67 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GAGCGTGGCCGCCAGCTGGGC 0.507 CTDP1 9150 broad.mit.edu 37 18 77457977 77457977 + Missense_Mutation SNP A G G TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr18:77457977A>G uc002lnh.1 + 4 757 c.610A>G c.(610-612)ATG>GTG p.M204V CTDP1_uc002lni.1_Missense_Mutation_p.M204V|CTDP1_uc010drd.1_Missense_Mutation_p.M204V NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 204 FCP1 homology. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CTGTCAGCAGATGTCGAATAA 0.493 ATP8B3 148229 broad.mit.edu 37 19 1792112 1792112 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr19:1792112C>T uc002ltw.2 - 19 2312 c.2078G>A c.(2077-2079)CGG>CAG p.R693Q ATP8B3_uc002ltv.2_Missense_Mutation_p.R646Q|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 693 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCACAGTGTCCGCAGGGTCTC 0.677 ADAMTS10 81794 broad.mit.edu 37 19 8668748 8668748 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr19:8668748G>A uc002mkj.1 - 5 730 c.456C>T c.(454-456)GAC>GAT p.D152D ADAMTS10_uc002mkk.1_Translation_Start_Site NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 152 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 ACTCTTCCTCGTCTGCCACGA 0.572 MUC16 94025 broad.mit.edu 37 19 9058871 9058871 + Silent SNP G T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr19:9058871G>T uc002mkp.2 - 3 28779 c.28575C>A c.(28573-28575)ACC>ACA p.T9525T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9527 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TAGCACTGGTGGTTTCCACAT 0.478 IL12RB1 3594 broad.mit.edu 37 19 18184347 18184347 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr19:18184347G>A uc002nhw.1 - 8 827 c.763C>T c.(763-765)CGG>TGG p.R255W IL12RB1_uc010xqb.1_Missense_Mutation_p.R255W|IL12RB1_uc002nhx.1_Missense_Mutation_p.R295W|IL12RB1_uc002nhy.2_Missense_Mutation_p.R255W NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 255 Extracellular (Potential).|Fibronectin type-III 3. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 AGGGTCAGCCGCCTCCTCCCA 0.433 ZNF257 113835 broad.mit.edu 37 19 22271312 22271312 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr19:22271312G>A uc010ecx.2 + 4 929 c.760G>A c.(760-762)GAG>AAG p.E254K ZNF257_uc010ecy.2_Missense_Mutation_p.E222K NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TCATACTAGAGAGAAACCCTA 0.388 MEIS3 56917 broad.mit.edu 37 19 47920129 47920129 + Missense_Mutation SNP T C C TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr19:47920129T>C uc002pgu.2 - 3 724 c.277A>G c.(277-279)ACA>GCA p.T93A MEIS3_uc002pgp.2_5'Flank|MEIS3_uc002pgq.2_Missense_Mutation_p.T174A|MEIS3_uc002pgr.2_5'UTR|MEIS3_uc002pgt.2_Missense_Mutation_p.T93A|MEIS3_uc002pgv.2_Missense_Mutation_p.T93A|MEIS3_uc002pgs.2_Missense_Mutation_p.T93A|MEIS3_uc010eld.2_Missense_Mutation_p.T93A|MEIS3_uc002pgw.2_3'UTR NM_001009813 NP_001009813 Q99687 MEIS3_HUMAN Meis1, myeloid ecotropic viral integration site 93 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) CCAGGGGGTGTCCCCAGCCCA 0.632 KLK6 5653 broad.mit.edu 37 19 51462468 51462468 + Silent SNP G A A rs148571626 TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr19:51462468G>A uc002pui.2 - 7 947 c.687C>T c.(685-687)AAC>AAT p.N229N KLK6_uc010eoj.2_Missense_Mutation_p.T101M|KLK6_uc002puh.2_Silent_p.N238N|KLK6_uc002puj.2_Silent_p.N122N|KLK6_uc010ycn.1_Silent_p.N122N|KLK6_uc002pul.2_Silent_p.N229N|KLK6_uc002pum.2_Silent_p.N122N NM_001012964 NP_001012982 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 isoform A 229 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) ATCTGCAGACGTTGGTGTAGA 0.547 NLRP13 126204 broad.mit.edu 37 19 56423179 56423179 + Silent SNP G A A rs140606375 byFrequency TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr19:56423179G>A uc010ygg.1 - 5 2029 c.2004C>T c.(2002-2004)GAC>GAT p.D668D NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 668 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GGAGTTCTTCGTCCTCCAAAA 0.408 ZNF543 125919 broad.mit.edu 37 19 57840542 57840542 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr19:57840542C>T uc002qoi.1 + 4 2057 c.1712C>T c.(1711-1713)CCT>CTT p.P571L NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTGGGAAGACCTTTTATGACT 0.418 TPO 7173 broad.mit.edu 37 2 1544411 1544411 + Silent SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr2:1544411C>T uc002qww.2 + 16 2755 c.2664C>T c.(2662-2664)GGC>GGT p.G888G TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.G831G|TPO_uc002qwr.2_Silent_p.G888G|TPO_uc002qwx.2_Silent_p.G831G|TPO_uc010yio.1_Silent_p.G715G|TPO_uc010yip.1_Silent_p.G844G|TPO_uc002qwy.1_Silent_p.G184G|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 888 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGGAGACAGGCGGAGGAACTC 0.642 ALLC 55821 broad.mit.edu 37 2 3730599 3730599 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr2:3730599G>A uc010ewt.2 + 7 607 c.446G>A c.(445-447)GGC>GAC p.G149D NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 168 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) CCTGCTTCCGGCCACAACTAT 0.438 HNSCC(21;0.051) APOB 338 broad.mit.edu 37 2 21256280 21256280 + Nonsense_Mutation SNP C A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr2:21256280C>A uc002red.2 - 9 1143 c.1015G>T c.(1015-1017)GAG>TAG p.E339* NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 339 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATATTTTGCTCAGAGATGGTT 0.468 C2orf71 388939 broad.mit.edu 37 2 29294478 29294478 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr2:29294478C>T uc002rmt.1 - 1 2650 c.2650G>A c.(2650-2652)GCC>ACC p.A884T NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 884 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 CTCACAGAGGCCCTCAGCTTT 0.657 FUNDC2P2 388965 broad.mit.edu 37 2 84518284 84518284 + Silent SNP T A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr2:84518284T>A uc010ffz.1 + 1 479 c.342T>A c.(340-342)ACT>ACA p.T114T NR_003663 RecName: Full=FUN14 domain-containing protein 2; AltName: Full=Hepatitis C virus core-binding protein 6; AltName: Full=Cervical cancer proto-oncogene 3 protein; Short=HCC-3; 0 CTAAGAGCACTCAGATACCTA 0.463 AMMECR1L 83607 broad.mit.edu 37 2 128631538 128631538 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr2:128631538G>A uc002tpl.2 - 3 522 c.271C>T c.(271-273)CGG>TGG p.R91W AMMECR1L_uc002tpm.2_Missense_Mutation_p.R91W NM_031445 NP_113633 Q6DCA0 AMERL_HUMAN AMME chromosomal region gene 1-like 91 central_nervous_system(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) CCATTAGGCCGGGGAAGAGGG 0.547 TTN 7273 broad.mit.edu 37 2 179457195 179457195 + Missense_Mutation SNP T G G TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr2:179457195T>G uc010zfg.1 - 250 52057 c.51833A>C c.(51832-51834)AAT>ACT p.N17278T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N10973T|TTN_uc010zfi.1_Missense_Mutation_p.N10906T|TTN_uc010zfj.1_Missense_Mutation_p.N10781T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18205 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) ATGGGCAGCATTACGAATTTC 0.378 TTN 7273 broad.mit.edu 37 2 179476881 179476881 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr2:179476881C>T uc010zfg.1 - 216 42777 c.42553G>A c.(42553-42555)GGA>AGA p.G14185R uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G7880R|TTN_uc010zfi.1_Missense_Mutation_p.G7813R|TTN_uc010zfj.1_Missense_Mutation_p.G7688R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15112 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) TAGGGTGGTCCAGGAGTGGCT 0.428 DNAH7 56171 broad.mit.edu 37 2 196681639 196681639 + Silent SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr2:196681639C>T uc002utj.3 - 51 9575 c.9474G>A c.(9472-9474)TCG>TCA p.S3158S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3158 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TATTGCCTTCCGAAGATGAAA 0.323 JPH2 57158 broad.mit.edu 37 20 42788505 42788505 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr20:42788505G>A uc002xli.1 - 2 1795 c.922C>T c.(922-924)CGC>TGC p.R308C NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 308 MORN 7.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCACTGGAGCGTTCGCTCACG 0.672 COL6A2 1292 broad.mit.edu 37 21 47545189 47545189 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr21:47545189G>A uc002zia.1 + 24 1862 c.1780G>A c.(1780-1782)GTC>ATC p.V594I COL6A2_uc002zhy.1_Missense_Mutation_p.V594I|COL6A2_uc002zhz.1_Missense_Mutation_p.V594I|COL6A2_uc002zib.1_5'UTR|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 594 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGAGTGTGACGTCATGACCTA 0.687 CABIN1 23523 broad.mit.edu 37 22 24561503 24561503 + Missense_Mutation SNP A G G TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr22:24561503A>G uc002zzi.1 + 31 5043 c.4916A>G c.(4915-4917)TAT>TGT p.Y1639C CABIN1_uc002zzj.1_Missense_Mutation_p.Y1560C|CABIN1_uc002zzl.1_Missense_Mutation_p.Y1639C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y64C NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1639 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CGCAGGAAGTATCTGCGAGAT 0.612 DNAJB7 150353 broad.mit.edu 37 22 41257115 41257115 + Frame_Shift_Del DEL T - - TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr22:41257115delT uc003azj.2 - 1 1016 c.884delA c.(883-885)AAGfs p.K295fs XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank NM_145174 NP_660157 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 295 Poly-Lys. protein folding heat shock protein binding|unfolded protein binding ovary(1) 1 TTTACGCTTCTTTTTTTTCCT 0.378 CHDH 55349 broad.mit.edu 37 3 53856599 53856599 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr3:53856599G>A uc003dgz.2 - 4 1214 c.774C>T c.(772-774)GCC>GCT p.A258A NM_018397 NP_060867 Q8NE62 CHDH_HUMAN choline dehydrogenase precursor 258 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding ovary(1)|central_nervous_system(1) 2 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) CAAGCGTCTCGGCCTCGGCCT 0.632 SDHAP1 255812 broad.mit.edu 37 3 195692311 195692311 + Missense_Mutation SNP T C C rs62282793 by1000genomes TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr3:195692311T>C uc003fvy.2 - 3 346 c.232A>G c.(232-234)AGC>GGC p.S78G SDHAP1_uc003fvx.3_RNA Homo sapiens full length insert cDNA clone ZC24D06. 0 TTCCCAGTGCTGACGTCCACA 0.607 SULT1B1 27284 broad.mit.edu 37 4 70615520 70615520 + Missense_Mutation SNP C G G TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr4:70615520C>G uc003hen.2 - 4 592 c.294G>C c.(292-294)GAG>GAC p.E98D NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 98 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 ATGGATTCTTCTCCAATTGTT 0.383 PRKG2 5593 broad.mit.edu 37 4 82074799 82074799 + Missense_Mutation SNP T C C TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr4:82074799T>C uc003hmh.2 - 6 1003 c.989A>G c.(988-990)AAG>AGG p.K330R PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.K330R NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 330 cGMP 2. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 AATAGTTACCTTTCCTTTTGC 0.333 MMRN1 22915 broad.mit.edu 37 4 90874400 90874400 + Missense_Mutation SNP A G G TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr4:90874400A>G uc003hst.2 + 8 3589 c.3518A>G c.(3517-3519)GAG>GGG p.E1173G MMRN1_uc010iku.2_Missense_Mutation_p.E476G|MMRN1_uc011cds.1_Missense_Mutation_p.E915G NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 1173 C1q. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CTTGCATTTGAGTCTGAAAAT 0.368 ZFP42 132625 broad.mit.edu 37 4 188924074 188924074 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr4:188924074C>T uc003izg.1 + 3 358 c.113C>T c.(112-114)GCG>GTG p.A38V ZFP42_uc003izh.1_Missense_Mutation_p.A38V|ZFP42_uc003izi.1_Missense_Mutation_p.A38V NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 38 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GACCTGCAGGCGGAAATAGAA 0.572 ZFP42 132625 broad.mit.edu 37 4 188924640 188924640 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr4:188924640G>A uc003izg.1 + 3 924 c.679G>A c.(679-681)GTT>ATT p.V227I ZFP42_uc003izh.1_Missense_Mutation_p.V227I|ZFP42_uc003izi.1_Missense_Mutation_p.V227I NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 227 C2H2-type 2. female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GAAAGCGTTCGTTGAGAGCTC 0.502 ANKRA2 57763 broad.mit.edu 37 5 72857050 72857050 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr5:72857050G>A uc003kcu.1 - 3 999 c.353C>T c.(352-354)TCT>TTT p.S118F ANKRA2_uc003kcv.2_Missense_Mutation_p.S118F NM_023039 NP_075526 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 118 cytoskeleton|cytosol|membrane low-density lipoprotein particle binding 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) CTTTGTTGTAGAGGGGGTGTA 0.388 PCDHA1 56147 broad.mit.edu 37 5 140167547 140167547 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr5:140167547G>A uc003lhb.2 + 1 1672 c.1672G>A c.(1672-1674)GAG>AAG p.E558K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.E558K NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 558 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGCTGGACGAGAACGACAA 0.672 PCDHA8 56140 broad.mit.edu 37 5 140221381 140221381 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr5:140221381G>A uc003lhs.2 + 1 475 c.475G>A c.(475-477)GAT>AAT p.D159N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.D159N NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 159 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGCGTCCGATGCAGATGT 0.458 PCDHGB4 8641 broad.mit.edu 37 5 140769126 140769126 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr5:140769126C>T uc003lkc.1 + 1 1675 c.1675C>T c.(1675-1677)CGG>TGG p.R559W PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R559W NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 559 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATGCGCCACGGGTGCTGTA 0.662 SLC36A3 285641 broad.mit.edu 37 5 150672978 150672978 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr5:150672978G>A uc003ltw.2 - 4 770 c.351C>T c.(349-351)TAC>TAT p.Y117Y GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.Y61Y|SLC36A3_uc003ltx.2_Silent_p.Y117Y NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 117 Cytoplasmic (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTCAAGGCCGTACATCGTGG 0.428 ZNF193 7746 broad.mit.edu 37 6 28200919 28200919 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr6:28200919G>A uc003nkq.1 + 4 1263 c.1148G>A c.(1147-1149)CGC>CAC p.R383H ZNF193_uc003nkr.1_Missense_Mutation_p.R383H|ZNF193_uc010jqz.1_Missense_Mutation_p.R434H NM_006299 NP_006290 O15535 ZN193_HUMAN zinc finger protein 193 383 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AACCTCATTCGCCATCAGAAG 0.502 EEF1A1 1915 broad.mit.edu 37 6 74228304 74228304 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr6:74228304C>T uc003phi.2 - 5 839 c.802G>A c.(802-804)GAG>AAG p.E268K EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.E258K|EEF1A1_uc003phf.2_Missense_Mutation_p.E268K|EEF1A1_uc003phg.2_Missense_Mutation_p.E268K|EEF1A1_uc003phh.2_Missense_Mutation_p.E114K|EEF1A1_uc003phj.2_Missense_Mutation_p.E268K|EEF1A1_uc003phk.2_Missense_Mutation_p.E268K|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 268 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 ACACCAGTCTCCACTCGGCCA 0.418 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay GPRC6A 222545 broad.mit.edu 37 6 117150029 117150031 + In_Frame_Del DEL ACA - - TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr6:117150029_117150031delACA uc003pxj.1 - 1 168_170 c.146_148delTGT c.(145-150)TTGTCC>TCC p.L49del GPRC6A_uc003pxk.1_In_Frame_Del_p.L49del|GPRC6A_uc003pxl.1_In_Frame_Del_p.L49del NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 49 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TCTTCTGAGGACAACATTTTTTC 0.443 HBS1L 10767 broad.mit.edu 37 6 135318720 135318720 + Missense_Mutation SNP G C C TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr6:135318720G>C uc003qez.2 - 6 821 c.614C>G c.(613-615)TCT>TGT p.S205C HBS1L_uc003qey.2_Missense_Mutation_p.S41C|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.S41C|HBS1L_uc011eda.1_Missense_Mutation_p.S163C NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Hsp70 subfamily B suppressor 1-like protein 205 signal transduction GTP binding|GTPase activity|translation elongation factor activity skin(2) 2 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) AACATCGGAAGAAGCAATGGC 0.443 BCLAF1 9774 broad.mit.edu 37 6 136582520 136582520 + Silent SNP T C C TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr6:136582520T>C uc003qgx.1 - 12 2893 c.2640A>G c.(2638-2640)AAA>AAG p.K880K BCLAF1_uc011edb.1_Silent_p.K159K|BCLAF1_uc003qgw.1_Silent_p.K707K|BCLAF1_uc003qgy.1_Silent_p.K829K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K878K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 880 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGCTACCTGATTTTTTGAAGT 0.428 IFNGR1 3459 broad.mit.edu 37 6 137519737 137519737 + Missense_Mutation SNP C G G TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr6:137519737C>G uc003qho.2 - 7 1004 c.901G>C c.(901-903)GAA>CAA p.E301Q IFNGR1_uc011edm.1_Missense_Mutation_p.E273Q NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 301 Cytoplasmic (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) TATTTTGATTCAGGTTTTGTC 0.393 SYNE1 23345 broad.mit.edu 37 6 152831380 152831380 + Nonsense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr6:152831380G>A uc010kiw.2 - 8 1131 c.529C>T c.(529-531)CAA>TAA p.Q177* SYNE1_uc003qot.3_Nonsense_Mutation_p.Q184*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q177*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q177*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.Q177* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 177 Actin-binding.|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) GCATTTCCTTGGATCTTGGTG 0.453 HNSCC(10;0.0054) MAP3K4 4216 broad.mit.edu 37 6 161527602 161527602 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr6:161527602G>A uc003qtn.2 + 20 4055 c.3913G>A c.(3913-3915)GAA>AAA p.E1305K MAP3K4_uc010kkc.1_Missense_Mutation_p.E1301K|MAP3K4_uc003qto.2_Missense_Mutation_p.E1255K|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.E758K|MAP3K4_uc003qtp.2_Missense_Mutation_p.E241K|MAP3K4_uc003qtq.2_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1305 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CCGATTGTTTGAAGAAAAGAG 0.408 MAP3K4 4216 broad.mit.edu 37 6 161527656 161527656 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr6:161527656G>A uc003qtn.2 + 20 4109 c.3967G>A c.(3967-3969)GAT>AAT p.D1323N MAP3K4_uc010kkc.1_Missense_Mutation_p.D1319N|MAP3K4_uc003qto.2_Missense_Mutation_p.D1273N|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.D776N|MAP3K4_uc003qtp.2_Missense_Mutation_p.D259N|MAP3K4_uc003qtq.2_Missense_Mutation_p.D12N NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1323 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TCAAGTTTGTGATACGCCTAA 0.398 ELMO1 9844 broad.mit.edu 37 7 37354483 37354483 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr7:37354483C>T uc003tfk.1 - 4 470 c.163G>A c.(163-165)GAT>AAT p.D55N ELMO1_uc010kxg.1_Missense_Mutation_p.D55N NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 55 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 TTTGAACTATCGGCATGCTGG 0.323 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G T T rs139236063 TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr7:55233043G>T uc003tqk.2 + 15 2039 c.1793G>T c.(1792-1794)GGA>GTA p.G598V EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 598 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(16) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) TYW1B 441250 broad.mit.edu 37 7 72093896 72093896 + Silent SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr7:72093896C>T uc011kej.1 - 15 1752 c.1593G>A c.(1591-1593)GGG>GGA p.G531G TYW1B_uc011keh.1_Silent_p.G369G|TYW1B_uc011kei.1_Silent_p.G157G NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 531 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 AGTCAGGATTCCCCAGGGACA 0.537 NCF1C 654817 broad.mit.edu 37 7 74573755 74573755 + Nonsense_Mutation SNP G T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr7:74573755G>T uc003ubv.2 - 9 832 c.750C>A c.(748-750)TAC>TAA p.Y250* NR_003187 RecName: Full=Putative neutrophil cytosol factor 1C; Short=NCF-1C; AltName: Full=Putative SH3 and PX domain-containing protein 1C; 0 TGGACGGAAAGTAGCCTGTGA 0.652 RABL5 64792 broad.mit.edu 37 7 100959711 100959711 + Missense_Mutation SNP C A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr7:100959711C>A uc003uyl.2 - 4 422 c.319G>T c.(319-321)GTC>TTC p.V107F RABL5_uc011kkk.1_Missense_Mutation_p.V30F|RABL5_uc011kkl.1_Missense_Mutation_p.V30F|RABL5_uc003uym.2_Missense_Mutation_p.V77F|RABL5_uc010lhw.2_RNA|RABL5_uc011kkm.1_Missense_Mutation_p.V107F NM_022777 NP_073614 Q9H7X7 RABL5_HUMAN RAB, member RAS oncogene family-like 5 isoform 107 GTP binding 0 Lung NSC(181;0.215) GGCTGTTGGACAAAGCAGGAA 0.502 SLC26A5 375611 broad.mit.edu 37 7 103050961 103050961 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr7:103050961G>A uc003vbz.2 - 7 842 c.606C>T c.(604-606)GCC>GCT p.A202A SLC26A5_uc003vbt.1_Silent_p.A202A|SLC26A5_uc003vbu.1_Silent_p.A202A|SLC26A5_uc003vbv.1_Silent_p.A202A|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.A202A|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 202 Helical; Name=4; (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 TGAGATATATGGCCACAAATC 0.408 NUP205 23165 broad.mit.edu 37 7 135304420 135304420 + Missense_Mutation SNP G T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr7:135304420G>T uc003vsw.2 + 29 4244 c.4213G>T c.(4213-4215)GAC>TAC p.D1405Y NUP205_uc003vsx.2_5'Flank NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1405 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 GAAACTGTTAGACTTCATTTT 0.303 KEL 3792 broad.mit.edu 37 7 142650951 142650951 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr7:142650951G>A uc003wcb.2 - 9 1227 c.1017C>T c.(1015-1017)GAC>GAT p.D339D NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 339 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) AATATTCCACGTCATGGACCA 0.537 ARHGEF35 445328 broad.mit.edu 37 7 143884178 143884178 + Silent SNP G A A rs140097295 TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr7:143884178G>A uc003wdz.1 - 2 1417 c.1299C>T c.(1297-1299)CCC>CCT p.P433P NM_001003702 NP_001003702 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 433 0 TCTGAGTCCCGGGAATCTGAG 0.567 ADAM28 10863 broad.mit.edu 37 8 24181418 24181418 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr8:24181418G>A uc003xdy.2 + 9 875 c.792G>A c.(790-792)AAG>AAA p.K264K ADAM28_uc003xdx.2_Silent_p.K264K|ADAM28_uc011kzz.1_Silent_p.K31K|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_5'Flank NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 264 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ATAAGATAAAGATAACCCCAA 0.383 JPH1 56704 broad.mit.edu 37 8 75171695 75171695 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr8:75171695C>T uc003yae.2 - 3 1223 c.1183G>A c.(1183-1185)GCG>ACG p.A395T JPH1_uc003yaf.2_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 395 Ala-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GCGGCCAGCGCGGCCTGGTCG 0.597 ENPP2 5168 broad.mit.edu 37 8 120629796 120629796 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr8:120629796G>A uc003yot.1 - 6 573 c.487C>T c.(487-489)CGC>TGC p.R163C ENPP2_uc003yos.1_Missense_Mutation_p.R163C|ENPP2_uc010mdd.1_Missense_Mutation_p.R163C NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 163 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AATGGAGGGCGAACAAACCTT 0.368 TSNARE1 203062 broad.mit.edu 37 8 143310871 143310871 + Missense_Mutation SNP T C C TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr8:143310871T>C uc003ywk.2 - 13 1634 c.1516A>G c.(1516-1518)ATC>GTC p.I506V TSNARE1_uc011lju.1_Missense_Mutation_p.I505V|TSNARE1_uc003ywj.2_Missense_Mutation_p.I507V NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 506 Poly-Ile.|Helical; (Potential). vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTGGCGATGATGATGATGATG 0.423 EPB41L4B 54566 broad.mit.edu 37 9 112017853 112017853 + Silent SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chr9:112017853C>T uc004bdz.1 - 11 1402 c.1107G>A c.(1105-1107)ACG>ACA p.T369T EPB41L4B_uc004bea.2_Silent_p.T369T NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 369 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 TGTTTCCTGGCGTCCGCAGTC 0.522 CXorf59 286464 broad.mit.edu 37 X 36103536 36103536 + Silent SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chrX:36103536C>T uc004ddk.1 + 5 708 c.522C>T c.(520-522)CTC>CTT p.L174L NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 174 integral to membrane central_nervous_system(1) 1 ATGTGCTGCTCCATTTGAGTG 0.353 HDAC6 10013 broad.mit.edu 37 X 48661362 48661362 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chrX:48661362G>A uc011mmi.1 + 3 273 c.178G>A c.(178-180)GGC>AGC p.G60S HDAC6_uc004dkr.1_Missense_Mutation_p.G60S|HDAC6_uc004dks.1_Missense_Mutation_p.G60S|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.G60S|HDAC6_uc004dku.3_Missense_Mutation_p.G60S|HDAC6_uc011mmj.1_Missense_Mutation_p.G5S|HDAC6_uc011mmk.1_Missense_Mutation_p.G41S NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 60 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) GAAGAAGCTCGGCCAAGCAAT 0.488 SMC1A 8243 broad.mit.edu 37 X 53439144 53439144 + Missense_Mutation SNP G T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chrX:53439144G>T uc004dsg.2 - 6 983 c.914C>A c.(913-915)ACC>AAC p.T305N SMC1A_uc011moe.1_Missense_Mutation_p.T283N|SMC1A_uc011mof.1_Intron NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 305 Potential. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 TTTGTGGGAGGTGTTCTCCTT 0.498 TAF1 6872 broad.mit.edu 37 X 70627913 70627913 + Silent SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chrX:70627913C>T uc004dzu.3 + 28 4344 c.4293C>T c.(4291-4293)CGC>CGT p.R1431R BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.R1452R|TAF1_uc004dzv.3_Silent_p.R605R|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1431 Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AAACACTCCGCGAAAACGTGC 0.443 PGK1 5230 broad.mit.edu 37 X 77378404 77378404 + Silent SNP T A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chrX:77378404T>A uc004ecz.3 + 7 886 c.714T>A c.(712-714)GGT>GGA p.G238G PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.G210G NM_000291 NP_000282 P00558 PGK1_HUMAN phosphoglycerate kinase 1 238 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity upper_aerodigestive_tract(1)|ovary(1) 2 TTATTGGTGGTGGAATGGCTT 0.398 RPA4 29935 broad.mit.edu 37 X 96139791 96139791 + Missense_Mutation SNP C T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chrX:96139791C>T uc004efv.3 + 1 780 c.482C>T c.(481-483)ACG>ATG p.T161M DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron NM_013347 NP_037479 Q13156 RFA4_HUMAN replication protein A4, 34kDa 161 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding 0 ATTCTGGAAACGGTCAATGCA 0.458 Other_identified_genes_with_known_or_suspected_DNA_repair_function PCDH19 57526 broad.mit.edu 37 X 99662858 99662858 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chrX:99662858G>A uc010nmz.2 - 1 2414 c.738C>T c.(736-738)AGC>AGT p.S246S PCDH19_uc004efw.3_Silent_p.S246S|PCDH19_uc004efx.3_Silent_p.S246S NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 246 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 TTTCTGGCACGCTCACCGCGT 0.617 MID2 11043 broad.mit.edu 37 X 107084402 107084402 + Silent SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chrX:107084402G>A uc004enl.2 + 2 1080 c.507G>A c.(505-507)ACG>ACA p.T169T MID2_uc004enk.2_Silent_p.T169T NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 169 B box-type 1; degenerate. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 TGCGGGCCACGCACCCCAACA 0.552 MAGEA6 4105 broad.mit.edu 37 X 151869622 151869622 + Missense_Mutation SNP G T T TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chrX:151869622G>T uc004ffq.1 + 3 506 c.312G>T c.(310-312)GAG>GAT p.E104D MAGEA6_uc004ffr.1_Missense_Mutation_p.E104D|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 104 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) TGGAGTCTGAGTTCCAAGCAG 0.547 DKC1 1736 broad.mit.edu 37 X 154004585 154004585 + Missense_Mutation SNP G A A TCGA-32-1982-01A-01D-1494-08 TCGA-32-1982-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9cf7c4cb-ce19-4b79-9163-b74369603e22 a6880916-1bae-4099-ba43-11216bc81b25 g.chrX:154004585G>A uc004fmm.2 + 14 1672 c.1462G>A c.(1462-1464)GAG>AAG p.E488K DKC1_uc010nvf.2_Missense_Mutation_p.E483K NM_001363 NP_001354 O60832 DKC1_HUMAN dyskerin isoform 1 488 Nuclear and nucleolar localization. cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity 0 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GAGCGGGGCCGAGCCTGGAGA 0.468 Congenital_Dyskeratosis