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 PIK3CD 5293 broad.mit.edu 37 1 9780231 9780231 + Silent SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:9780231C>T uc001aqb.3 + 11 1609 c.1401C>T c.(1399-1401)AGC>AGT p.S467S PIK3CD_uc010oaf.1_Silent_p.S467S|PIK3CD_uc001aqe.3_Silent_p.S432S NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 467 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) ACACGGATAGCGCCGCTGCCC 0.662 MUL1 79594 broad.mit.edu 37 1 20828674 20828674 + Missense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:20828674G>A uc001bdi.3 - 3 374 c.217C>T c.(217-219)CGG>TGG p.R73W NM_024544 NP_078820 Q969V5 MUL1_HUMAN mitochondrial ubiquitin ligase activator of NFKB 73 Mitochondrial intermembrane (Potential). activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) TTAACAGACCGCACAGCTCCT 0.388 ZNF644 84146 broad.mit.edu 37 1 91404393 91404393 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:91404393C>T uc001dnw.2 - 3 2660 c.2518G>A c.(2518-2520)GTT>ATT p.V840I ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.V840I NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 840 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTTGCAAAACGACAACAGTC 0.363 AMPD1 270 broad.mit.edu 37 1 115220069 115220069 + Missense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:115220069G>A uc001efe.1 - 10 1375 c.1291C>T c.(1291-1293)CGC>TGC p.R431C AMPD1_uc001eff.1_Missense_Mutation_p.R427C NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 431 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TCAGGACTGCGGCCATAGATG 0.567 PPIAL4G 644591 broad.mit.edu 37 1 143767630 143767630 + Silent SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:143767630G>A uc001ejt.2 - 1 252 c.219C>T c.(217-219)ACC>ACT p.T73T NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 73 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity 0 ACTTGTCACCGGTGCCATTAG 0.468 LOC728989 728989 broad.mit.edu 37 1 146494538 146494538 + Missense_Mutation SNP G A A rs141949470 by1000genomes TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:146494538G>A uc001epd.2 - 4 535 c.461C>T c.(460-462)GCG>GTG p.A154V NR_024442 SubName: Full=cDNA FLJ59595, highly similar to Homo sapiens phosphodiesterase 4D interacting protein, transcript variant 1, mRNA; 0 TGGCAGGGCCGCTCTCCAGAA 0.572 PEAR1 375033 broad.mit.edu 37 1 156879622 156879622 + Silent SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:156879622C>T uc001fqj.1 + 12 1607 c.1491C>T c.(1489-1491)GCC>GCT p.A497A PEAR1_uc001fqk.1_Silent_p.A122A NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 497 EGF-like 6. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCAGTGTGCCCATGAGGCAG 0.662 PVRL4 81607 broad.mit.edu 37 1 161049529 161049529 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:161049529C>T uc001fxo.2 - 2 589 c.290G>A c.(289-291)CGC>CAC p.R97H NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 97 Ig-like V-type 1.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CTGCTCCACGCGGCCCTCGTA 0.687 SIPA1L2 57568 broad.mit.edu 37 1 232561420 232561420 + Silent SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:232561420G>A uc001hvg.2 - 16 4703 c.4545C>T c.(4543-4545)AAC>AAT p.N1515N SIPA1L2_uc001hvf.2_Silent_p.N589N NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1515 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACAGAATGTCGTTGGGCAGGG 0.642 SIPA1L2 57568 broad.mit.edu 37 1 232626679 232626679 + Nonsense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:232626679G>A uc001hvg.2 - 3 1905 c.1747C>T c.(1747-1749)CGA>TGA p.R583* NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 583 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GAAGCCTGTCGCAAACACTGA 0.463 OR2T6 254879 broad.mit.edu 37 1 248551010 248551010 + Missense_Mutation SNP T C C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr1:248551010T>C uc001iei.1 + 1 101 c.101T>C c.(100-102)GTC>GCC p.V34A NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|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;0.0265) ATTTGTGCCGTCTTCTTCATG 0.463 EPC1 80314 broad.mit.edu 37 10 32580102 32580102 + Missense_Mutation SNP T C C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr10:32580102T>C uc001iwg.1 - 6 1234 c.964A>G c.(964-966)AAA>GAA p.K322E EPC1_uc001iwi.3_Missense_Mutation_p.K272E|EPC1_uc009xlt.2_Missense_Mutation_p.K272E|EPC1_uc001iwh.1_Missense_Mutation_p.K322E NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN enhancer of polycomb 1 322 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex ovary(3)|central_nervous_system(1) 4 Prostate(175;0.0199) TTATTAACTTTGAACTCCTTC 0.318 TBC1D12 23232 broad.mit.edu 37 10 96163266 96163266 + Missense_Mutation SNP C A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr10:96163266C>A uc001kjr.2 + 1 1081 c.896C>A c.(895-897)CCC>CAC p.P299H NM_015188 NP_056003 O60347 TBC12_HUMAN TBC1 domain family, member 12 299 intracellular Rab GTPase activator activity 0 Colorectal(252;0.0429) GTGCCCTTGCCCGCCGCGGAG 0.667 C10orf129 142827 broad.mit.edu 37 10 96979715 96979715 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr10:96979715C>T uc001kke.2 + 9 1312 c.1187C>T c.(1186-1188)CCT>CTT p.P396L C10orf129_uc009xuu.1_Missense_Mutation_p.P306L NM_207321 NP_997204 Q6P461 ACSM6_HUMAN acyl-coenzyme A synthetase ACSM6, mitochondrial 396 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding 0 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) CCATTGCCACCTTATATTGTC 0.368 DMBT1 1755 broad.mit.edu 37 10 124351971 124351971 + Missense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr10:124351971G>A uc001lgk.1 + 20 2466 c.2360G>A c.(2359-2361)CGG>CAG p.R787Q DMBT1_uc001lgl.1_Missense_Mutation_p.R777Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R787Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.R400Q NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 787 SRCR 6. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGAAATGCCCGGTTTGGCCAG 0.622 HMX3 340784 broad.mit.edu 37 10 124896723 124896723 + Missense_Mutation SNP G C C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr10:124896723G>C uc010quc.1 + 2 550 c.550G>C c.(550-552)GAA>CAA p.E184Q NM_001105574 NP_001099044 A6NHT5 HMX3_HUMAN H6 family homeobox 3 184 cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) CGACTCCGAGGAAAGCAAAAA 0.677 PAOX 196743 broad.mit.edu 37 10 135197588 135197588 + Missense_Mutation SNP C A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr10:135197588C>A uc001lmv.2 + 4 1073 c.993C>A c.(991-993)TTC>TTA p.F331L PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Missense_Mutation_p.F331L|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_Intron|PAOX_uc001lnc.2_Intron NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 469 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) AGGAGCCCTTCTGGGAGCCAG 0.587 PCF11 51585 broad.mit.edu 37 11 82878503 82878505 + In_Frame_Del DEL TTG - - TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr11:82878503_82878505delTTG uc001ozx.3 + 7 2393_2395 c.2048_2050delTTG c.(2047-2052)CTTGTT>CTT p.V686del PCF11_uc010rsu.1_In_Frame_Del_p.V686del NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 686 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 GATGACTTCCTTGTTGTTGTGCA 0.330 TRIM49 57093 broad.mit.edu 37 11 89531467 89531467 + Missense_Mutation SNP A T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr11:89531467A>T uc001pdb.2 - 8 1519 c.1190T>A c.(1189-1191)CTT>CAT p.L397H NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 397 B30.2/SPRY. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTGCAGCATAAGTGGGGAGGT 0.428 ANGPTL5 253935 broad.mit.edu 37 11 101762250 101762250 + Silent SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr11:101762250C>T uc001pgl.2 - 9 1523 c.927G>A c.(925-927)GGG>GGA p.G309G NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 309 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CAGGGCGACACCCATCATTAT 0.443 TSPAN9 10867 broad.mit.edu 37 12 3389625 3389625 + Silent SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr12:3389625C>T uc001qlp.2 + 6 555 c.408C>T c.(406-408)AAC>AAT p.N136N NM_006675 NP_006666 O75954 TSN9_HUMAN tetraspanin 9 136 Extracellular (Potential). integral to plasma membrane|membrane fraction ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) GGCTGAAGAACGCCTGGAACA 0.657 PABPC3 5042 broad.mit.edu 37 13 25671151 25671151 + Missense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr13:25671151G>A uc001upy.2 + 1 876 c.815G>A c.(814-816)CGG>CAG p.R272Q NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 272 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAAGTGGAACGGCAGACGGAA 0.398 UGGT2 55757 broad.mit.edu 37 13 96530054 96530054 + Silent SNP T C C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr13:96530054T>C uc001vmt.2 - 28 3455 c.3285A>G c.(3283-3285)CAA>CAG p.Q1095Q UGGT2_uc001vmu.1_Silent_p.Q182Q NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 1095 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 TATCAAAGCATTGTCCTTCCA 0.403 ADPRHL1 113622 broad.mit.edu 37 13 114107590 114107590 + Missense_Mutation SNP C T T rs149499588 TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr13:114107590C>T uc001vtq.1 - 1 250 c.163G>A c.(163-165)GTG>ATG p.V55M NM_138430 NP_612439 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 isoform 1 55 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) TTGTCACTCACGGGCCATTCT 0.632 PEX11A 8800 broad.mit.edu 37 15 90226620 90226620 + Silent SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr15:90226620C>T uc002boi.2 - 3 827 c.732G>A c.(730-732)CTG>CTA p.L244L PEX11A_uc010upy.1_RNA NM_003847 NP_003838 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 244 Cytoplasmic (Potential). KLK->SLS: No effect on peroxisomal location. cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane 0 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) AACGGGTCTTCAGCTTCATCT 0.453 TIGD7 91151 broad.mit.edu 37 16 3349388 3349400 + Frame_Shift_Del DEL TTCAGGTTCCTTT - - TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr16:3349388_3349400delTTCAGGTTCCTTT uc002cus.2 - 1 2001_2013 c.1215_1227delAAAGGAACCTGAA c.(1213-1227)AAAAAGGAACCTGAAfs p.K405fs ZNF263_uc002cur.2_3'UTR NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 405_409 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 GAAAATCATATTCAGGTTCCTTTTTGTAAAGAA 0.329 CDH5 1003 broad.mit.edu 37 16 66429972 66429972 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr16:66429972C>T uc002eom.3 + 8 1384 c.1228C>T c.(1228-1230)CGC>TGC p.R410C NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 410 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) ATACTCCATCCGCAGGACCAG 0.493 CDH15 1013 broad.mit.edu 37 16 89251737 89251737 + Missense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr16:89251737G>A uc002fmt.2 + 5 736 c.659G>A c.(658-660)CGC>CAC p.R220H CDH15_uc010cij.1_Missense_Mutation_p.R220H NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 220 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) GGGCTGGACCGCGAGGTGAGG 0.706 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr17:7578534C>A uc002gim.2 - 5 590 c.396G>T c.(394-396)AAG>AAT p.K132N TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 132 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAAAACATCTTGTTGAGGG 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) PHF12 57649 broad.mit.edu 37 17 27240145 27240145 + Missense_Mutation SNP T C C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr17:27240145T>C uc002hdg.1 - 9 1974 c.1444A>G c.(1444-1446)ACA>GCA p.T482A PHF12_uc010wbb.1_Missense_Mutation_p.T464A|PHF12_uc002hdi.1_Missense_Mutation_p.T478A|PHF12_uc002hdj.1_Missense_Mutation_p.T482A|PHF12_uc010crw.1_Missense_Mutation_p.T185A|PHF12_uc002hdh.1_Missense_Mutation_p.T265A NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 482 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TTGTCAGCTGTTTGCAGGGAG 0.542 KRTAP2-4 85294 broad.mit.edu 37 17 39221759 39221773 + In_Frame_Del DEL GCAGGGGGGCCGGCA - - rs349782 by1000genomes TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr17:39221759_39221773delGCAGGGGGGCCGGCA uc002hvy.2 - 1 359_373 c.325_339delTGCCGGCCCCCCTGC c.(325-339)TGCCGGCCCCCCTGCdel p.CRPPC109del NM_033184 NP_149440 Q9BYR9 KRA24_HUMAN keratin associated protein 2-4 109_113 keratin filament 0 Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204) STAD - Stomach adenocarcinoma(17;0.000371) TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC 0.660 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G C C rs141357429 by1000genomes TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr17:39274087G>C uc002hvz.2 - 1 520 c.481C>G c.(481-483)CTG>GTG p.L161V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.323 KIF18B 146909 broad.mit.edu 37 17 43005601 43005601 + Missense_Mutation SNP C G G TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr17:43005601C>G uc010wji.1 - 13 2179 c.2078G>C c.(2077-2079)TGC>TCC p.C693S KIF18B_uc002iht.2_Missense_Mutation_p.C702S|KIF18B_uc010wjh.1_Missense_Mutation_p.C690S NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) TGTGGCTGGGCAAACGCGAGG 0.647 COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T - - TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr17:55028016delT uc002iuu.2 - 2 618 c.587delA c.(586-588)AAGfs p.K196fs NM_004645 NP_004636 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 EPB41L3 23136 broad.mit.edu 37 18 5415838 5415838 + Silent SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr18:5415838C>T uc002kmt.1 - 13 2132 c.2046G>A c.(2044-2046)CCG>CCA p.P682P EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 682 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 AACTGTCACTCGGGTCATTGT 0.582 KIAA0802 23255 broad.mit.edu 37 18 8786006 8786020 + In_Frame_Del DEL CGAGCCGCGCGGGAG - - TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr18:8786006_8786020delCGAGCCGCGCGGGAG uc002knr.2 + 7 1946_1960 c.1804_1818delCGAGCCGCGCGGGAG c.(1804-1818)CGAGCCGCGCGGGAGdel p.RAARE602del KIAA0802_uc002knq.2_In_Frame_Del_p.RAARE602del|KIAA0802_uc010dkw.1_In_Frame_Del_p.RAARE440del NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 953_957 0 CCTGCGCCTCCGAGCCGCGCGGGAGCTGCACCGCC 0.707 TXNDC2 84203 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A G G rs146821851 TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr18:9886894A>G uc002koi.3 + 2 867 c.418A>G c.(418-420)AAA>GAA p.K140E TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.K73E NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 140 2.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 GTCCTCAGAAAAAGCCATCCA 0.547 NWD1 284434 broad.mit.edu 37 19 16860196 16860196 + Missense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr19:16860196G>A uc002neu.3 + 6 1165 c.743G>A c.(742-744)CGC>CAC p.R248H NWD1_uc002net.3_Missense_Mutation_p.R113H|NWD1_uc002nev.3_Missense_Mutation_p.R42H Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 248 ATP binding skin(3)|ovary(2)|pancreas(2) 7 CCGTGGAGCCGCGACTTGGTG 0.597 MAST3 23031 broad.mit.edu 37 19 18218415 18218415 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr19:18218415C>T uc002nhz.3 + 2 58 c.58C>T c.(58-60)CGC>TGC p.R20C NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 20 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 GAGCCTGCCACGCCGAGGACG 0.572 MLL4 9757 broad.mit.edu 37 19 36224327 36224327 + Frame_Shift_Del DEL C - - TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr19:36224327delC uc010eei.2 + 29 6877 c.6877delC c.(6877-6879)CCCfs p.P2293fs NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 2293 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCAGCACCTCCCCCATACAA 0.682 CD33 945 broad.mit.edu 37 19 51742917 51742917 + Missense_Mutation SNP G A A rs148758925 byFrequency TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr19:51742917G>A uc002pwa.2 + 7 1109 c.1069G>A c.(1069-1071)GAA>AAA p.E357K CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E230K|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 357 ITIM motif 2.|Cytoplasmic (Potential). cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CACCTCCACCGAATACTCAGA 0.527 MBOAT7 79143 broad.mit.edu 37 19 54677935 54677935 + Missense_Mutation SNP C G G TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr19:54677935C>G uc002qdq.2 - 9 1488 c.1222G>C c.(1222-1224)GAC>CAC p.D408H TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.D92H|MBOAT7_uc010yem.1_Missense_Mutation_p.D390H|MBOAT7_uc002qdr.2_Missense_Mutation_p.D408H|MBOAT7_uc002qds.2_Missense_Mutation_p.D335H|MBOAT7_uc010yen.1_Missense_Mutation_p.D335H NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 408 phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CACATGTAGTCATAGGCGCGC 0.652 MYCN 4613 broad.mit.edu 37 2 16082359 16082359 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr2:16082359C>T uc002rci.2 + 2 473 c.173C>T c.(172-174)ACG>ATG p.T58M MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.T50M NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 58 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CTGCTGCCCACGCCCCCGCTG 0.677 A neuroblastoma SCN9A 6335 broad.mit.edu 37 2 167141183 167141183 + Missense_Mutation SNP C G G TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr2:167141183C>G uc010fpl.2 - 12 2095 c.1754G>C c.(1753-1755)AGG>ACG p.R585T uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R456T|SCN9A_uc002uds.1_Missense_Mutation_p.R456T|SCN9A_uc002udt.1_Missense_Mutation_p.R456T NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 585 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) CAGTGAGCCCCTTCTGCTCTC 0.502 COL6A3 1293 broad.mit.edu 37 2 238270475 238270475 + Splice_Site SNP C G G TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr2:238270475C>G uc002vwl.2 - 15 6349 c.6064_splice c.e15-1 p.D2022_splice COL6A3_uc002vwo.2_Splice_Site_p.D1816_splice|COL6A3_uc010znj.1_Splice_Site_p.D1415_splice NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CAATGTTGTCCTACCGAAAGG 0.527 SAMHD1 25939 broad.mit.edu 37 20 35547889 35547889 + Missense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr20:35547889G>A uc002xgh.1 - 7 860 c.730C>T c.(730-732)CTT>TTT p.L244F NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 244 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) GAATTAATAAGGTGCTCAAAC 0.368 OXSM 54995 broad.mit.edu 37 3 25832620 25832620 + Missense_Mutation SNP A G G TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr3:25832620A>G uc003cdn.2 + 2 216 c.109A>G c.(109-111)ATA>GTA p.I37V NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Missense_Mutation_p.I37V NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 37 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 AACTGTGCCAATATCCAGATT 0.428 PIK3CA 5290 broad.mit.edu 37 3 178916882 178916882 + Missense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr3:178916882G>A uc003fjk.2 + 2 426 c.269G>A c.(268-270)TGT>TAT p.C90Y NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 90 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGACGACTTTGTGACCTTCGG 0.368 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) UGT2B10 7365 broad.mit.edu 37 4 69696492 69696492 + Silent SNP G T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr4:69696492G>T uc003hee.2 + 6 1507 c.1482G>T c.(1480-1482)GGG>GGT p.G494G UGT2B10_uc011cam.1_Silent_p.G410G NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 494 Helical; (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 ATGTGATTGGGTTCCTGCTGG 0.458 FAM13A 10144 broad.mit.edu 37 4 89941642 89941642 + Silent SNP C T T rs147082682 byFrequency TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr4:89941642C>T uc003hse.1 - 3 604 c.396G>A c.(394-396)GCG>GCA p.A132A FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Silent_p.A132A|FAM13A_uc003hsj.2_Silent_p.A132A NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 132 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 GAGGCTGCAACGCTGAGGTGA 0.423 PTGER4 5734 broad.mit.edu 37 5 40681502 40681502 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr5:40681502C>T uc003jlz.2 + 2 999 c.407C>T c.(406-408)GCG>GTG p.A136V NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 136 Helical; Name=4; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 AAGCGATTGGCGGGCCTCACG 0.597 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HSP90AB1 3326 broad.mit.edu 37 6 44217321 44217321 + Splice_Site SNP G T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr6:44217321G>T uc003oxa.1 + 3 438 c.354_splice c.e3+1 p.Q118_splice HSP90AB1_uc011dvr.1_Splice_Site_p.Q118_splice|HSP90AB1_uc003oxb.1_Splice_Site_p.Q118_splice|HSP90AB1_uc011dvs.1_Splice_Site|HSP90AB1_uc003oxc.1_5'Flank NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGCTCTTCAGGTATTGCAGTT 0.403 DPY19L2P1 554236 broad.mit.edu 37 7 35130052 35130052 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr7:35130052C>T uc003teq.1 - 21 2240 c.1133G>A c.(1132-1134)CGG>CAG p.R378Q DPY19L2P1_uc003tep.1_RNA|DPY19L2P1_uc010kwz.1_RNA RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2; 0 TATTTTTGTCCGAGCCCTTTA 0.264 RABGEF1 27342 broad.mit.edu 37 7 66262470 66262470 + Silent SNP T C C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr7:66262470T>C uc011kee.1 + 6 911 c.747T>C c.(745-747)GAT>GAC p.D249D RABGEF1_uc003tvf.2_Silent_p.D108D|RABGEF1_uc003tvg.2_Silent_p.D43D|RABGEF1_uc010lag.2_Silent_p.D235D|RABGEF1_uc003tvh.2_Silent_p.D235D|RABGEF1_uc003tvi.2_Silent_p.D69D NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 452 VPS9. endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 AGAAGAAAGATCTTGCCATTC 0.358 TRIM50 135892 broad.mit.edu 37 7 72734159 72734159 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr7:72734159C>T uc010lbd.1 - 3 607 c.482G>A c.(481-483)CGG>CAG p.R161Q FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.R161Q|TRIM50_uc003txz.1_Missense_Mutation_p.R161Q NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 161 Potential. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 GATTCGGGTCCGGTTGTTCAC 0.562 BAIAP2L1 55971 broad.mit.edu 37 7 97922864 97922864 + Missense_Mutation SNP G A A rs140138864 TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr7:97922864G>A uc003upj.2 - 14 1768 c.1505C>T c.(1504-1506)ACG>ATG p.T502M NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 502 Binds F-actin. Missing: Loss ability to induce the formation of actin clusters; induce the formation of long filopodia. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) GCGATCATTCGTCACAGTCGG 0.547 RELN 5649 broad.mit.edu 37 7 103389896 103389896 + Silent SNP T C C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr7:103389896T>C uc003vca.2 - 6 793 c.633A>G c.(631-633)CAA>CAG p.Q211Q RELN_uc010liz.2_Silent_p.Q211Q NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 211 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTAATTGCAGTTGGTGGTAGG 0.353 PARP12 64761 broad.mit.edu 37 7 139724367 139724367 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr7:139724367C>T uc003vvl.1 - 12 2973 c.2099G>A c.(2098-2100)CGA>CAA p.R700Q PARP12_uc003vvk.1_Missense_Mutation_p.R486Q|PARP12_uc010lnf.1_RNA NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 700 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) CGCTCACTGTCGGCTGCTGAA 0.522 OR2F2 135948 broad.mit.edu 37 7 143632582 143632582 + Missense_Mutation SNP T C C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr7:143632582T>C uc011ktv.1 + 1 257 c.257T>C c.(256-258)CTT>CCT p.L86P NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) GCACATTTTCTTGCAGAACAT 0.522 SLC4A2 6522 broad.mit.edu 37 7 150759094 150759094 + Missense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr7:150759094G>A uc003wit.3 + 2 276 c.20G>A c.(19-21)CGC>CAC p.R7H SLC4A2_uc011kve.1_5'Flank|SLC4A2_uc003wiu.3_5'Flank NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 7 Cytoplasmic (Potential).|Pro-rich. R -> L (in Ref. 1; CAA44067). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCCCTCGGCGCCCCGCCAAG 0.667 TRIM14 9830 broad.mit.edu 37 9 100857227 100857227 + Missense_Mutation SNP C T T rs149392923 TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr9:100857227C>T uc004ayd.2 - 4 640 c.622G>A c.(622-624)GTC>ATC p.V208I TRIM14_uc004ayf.1_Missense_Mutation_p.V115I|TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.V208I|TRIM14_uc004ayh.1_Missense_Mutation_p.V208I|TRIM14_uc004ayi.1_Missense_Mutation_p.V208I|TRIM14_uc004ayj.1_Missense_Mutation_p.V115I NM_033220 NP_150089 Q14142 TRI14_HUMAN tripartite motif protein TRIM14 isoform alpha 208 cytoplasm|intracellular zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.0559) AAGCTCTTGACGGGCTCAAAG 0.582 C9orf163 158055 broad.mit.edu 37 9 139379109 139379109 + Missense_Mutation SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chr9:139379109G>A uc004chy.2 + 1 1163 c.209G>A c.(208-210)GGG>GAG p.G70E SEC16A_uc004chx.2_5'Flank|SEC16A_uc010nbo.1_5'Flank NM_152571 NP_689784 Q8N9P6 CI163_HUMAN hypothetical protein LOC158055 70 protein binding 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06) GTGAGGGAGGGGGTGATATCC 0.687 PRKX 5613 broad.mit.edu 37 X 3573336 3573336 + Missense_Mutation SNP G C C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chrX:3573336G>C uc010nde.2 - 3 820 c.453C>G c.(451-453)TTC>TTG p.F151L NM_005044 NP_005035 P51817 PRKX_HUMAN protein kinase, X-linked 151 Protein kinase. ATP binding|cAMP-dependent protein kinase activity skin(2)|lung(1) 3 all_lung(23;0.000396)|Lung NSC(23;0.00123) CTGCAGAGTAGAAGAGCCCCG 0.587 MSL3 10943 broad.mit.edu 37 X 11790274 11790274 + Splice_Site SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chrX:11790274G>A uc004cuw.2 + 11 1387 c.1282_splice c.e11-1 p.V428_splice MSL3_uc004cux.2_Splice_Site_p.V369_splice|MSL3_uc011mig.1_Splice_Site_p.V279_splice|MSL3_uc011mih.1_Splice_Site_p.V416_splice|MSL3_uc004cuy.2_Splice_Site_p.V262_splice NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCTTTTTCCAGGTCCTCTCCT 0.443 XK 7504 broad.mit.edu 37 X 37545375 37545375 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chrX:37545375C>T uc004ddq.2 + 1 243 c.161C>T c.(160-162)ACG>ATG p.T54M NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 54 Helical; (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) GTGCAGCTCACGCTTCTCTTC 0.662 UBA1 7317 broad.mit.edu 37 X 47069360 47069360 + Silent SNP G C C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chrX:47069360G>C uc004dhj.3 + 18 2188 c.2037G>C c.(2035-2037)CTG>CTC p.L679L UBA1_uc004dhk.3_Silent_p.L679L|UBA1_uc004dhm.2_Silent_p.L127L NM_153280 NP_695012 P22314 UBA1_HUMAN ubiquitin-activating enzyme E1 679 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity ovary(1) 1 CACTGCGGCTGGCAGGCACTC 0.607 OTUD5 55593 broad.mit.edu 37 X 48814296 48814296 + Silent SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chrX:48814296G>A uc004dlu.2 - 1 598 c.537C>T c.(535-537)GAC>GAT p.D179D OTUD5_uc004dlt.3_Silent_p.D179D|OTUD5_uc004dlv.2_Silent_p.D179D|OTUD5_uc011mmp.1_Intron NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 179 negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 CCTCATACTCGTCCTCACTGT 0.677 TEX11 56159 broad.mit.edu 37 X 69871358 69871358 + Silent SNP G A A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chrX:69871358G>A uc004dyl.2 - 18 1632 c.1470C>T c.(1468-1470)AAC>AAT p.N490N TEX11_uc004dyk.2_Silent_p.N165N|TEX11_uc004dym.2_Silent_p.N475N NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 490 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) GAGTGAAAACGTTCCTAGGGT 0.358 CXorf57 55086 broad.mit.edu 37 X 105855567 105855567 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chrX:105855567C>T uc004emi.3 + 1 408 c.257C>T c.(256-258)ACG>ATG p.T86M CXorf57_uc004emj.3_Missense_Mutation_p.T86M|CXorf57_uc004emh.2_Missense_Mutation_p.T86M NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 86 ovary(1)|lung(1)|breast(1) 3 CCACGCGACACGGTGCCCAAG 0.557 TMEM164 84187 broad.mit.edu 37 X 109247264 109247264 + Nonsense_Mutation SNP G T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chrX:109247264G>T uc004eom.2 + 2 581 c.262G>T c.(262-264)GAG>TAG p.E88* TMEM164_uc004eol.2_Intron|TMEM164_uc010npq.2_Nonsense_Mutation_p.E88* NM_032227 NP_115603 Q5U3C3 TM164_HUMAN transmembrane protein 164 isoform b 88 integral to membrane large_intestine(1)|lung(1)|skin(1) 3 GGAAGGCAAGGAGAGCCTGAG 0.617 TREX2 11219 broad.mit.edu 37 X 152710600 152710600 + Missense_Mutation SNP C T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chrX:152710600C>T uc010nue.1 - 3 531 c.415G>A c.(415-417)GTG>ATG p.V139M TREX2_uc010nud.1_Missense_Mutation_p.V97M|TREX2_uc011myp.1_Missense_Mutation_p.V97M|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA NM_080701 NP_542432 Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 140 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding large_intestine(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTCCGCACCACGGCGCCATCA 0.657 Editing_and_processing_nucleases ATP2B3 492 broad.mit.edu 37 X 152830482 152830482 + Missense_Mutation SNP A T T TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 39e0587b-1b04-4c68-8ae4-3ae7781e8017 744f1805-ff88-4a74-b098-a00c74bce072 g.chrX:152830482A>T uc004fht.1 + 19 3389 c.3263A>T c.(3262-3264)GAA>GTA p.E1088V ATP2B3_uc004fhs.1_Missense_Mutation_p.E1088V|ATP2B3_uc010nuf.1_Missense_Mutation_p.E111V|ATP2B3_uc004fhu.1_Missense_Mutation_p.E11V NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 1088 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAAGGCGAGGAAGAGATCGAC 0.662