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 RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC - - TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:8716284_8716285delTC uc001ape.2 - 3 882_883 c.72_73delGA c.(70-75)GAGAAAfs p.E24fs RERE_uc001apf.2_Frame_Shift_Del_p.E24fs|RERE_uc001aph.1_Frame_Shift_Del_p.E24fs NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 24_25 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTGTCTCTTTTCtctctctctc 0.342 CROCC 9696 broad.mit.edu 37 1 17266398 17266398 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:17266398G>A uc001azt.2 + 13 1687 c.1618G>A c.(1618-1620)GGG>AGG p.G540R CROCC_uc009voy.1_Missense_Mutation_p.G243R|CROCC_uc009voz.1_Missense_Mutation_p.G303R|CROCC_uc001azu.2_5'UTR NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 540 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGACATGCGTGGGCGCTATGA 0.647 CLIC4 25932 broad.mit.edu 37 1 25124266 25124266 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:25124266C>T uc001bjo.2 + 2 391 c.106C>T c.(106-108)CCC>TCC p.P36S CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Intron NM_013943 NP_039234 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 36 Required for insertion into the membrane (Probable). cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) AGGAAACTGCCCCTTTTCCCA 0.403 BSDC1 55108 broad.mit.edu 37 1 32843632 32843632 + Silent SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:32843632G>A uc001bvh.3 - 8 662 c.615C>T c.(613-615)GAC>GAT p.D205D BSDC1_uc010ohg.1_Silent_p.D222D|BSDC1_uc010ohh.1_Silent_p.D149D|BSDC1_uc010ohi.1_Silent_p.D110D|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Silent_p.D101D|BSDC1_uc001bvi.2_Silent_p.D222D NM_018045 NP_060515 Q9NW68 BSDC1_HUMAN BSD domain containing 1 isoform b 205 protein binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCTTCAGGGCGTCCCTCCGGG 0.622 IL12RB2 3595 broad.mit.edu 37 1 67787302 67787302 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:67787302G>A uc001ddu.2 + 3 734 c.94G>A c.(94-96)GAT>AAT p.D32N IL12RB2_uc010oqi.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqj.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqm.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 32 Extracellular (Potential). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 CAAGAGAGGCGATGTGACTGT 0.393 SYDE2 84144 broad.mit.edu 37 1 85624652 85624652 + Silent SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:85624652G>A uc009wcm.2 - 7 3415 c.3366C>T c.(3364-3366)ATC>ATT p.I1122I NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 1122 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) AATTTTCTCCGATTTTTCTAT 0.363 GBP3 2635 broad.mit.edu 37 1 89481028 89481028 + Missense_Mutation SNP T C C TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:89481028T>C uc001dmt.2 - 3 465 c.260A>G c.(259-261)AAA>AGA p.K87R GBP3_uc010oss.1_Missense_Mutation_p.K8R|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 87 integral to membrane GTP binding|GTPase activity ovary(1)|pancreas(1) 2 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TTCTGGCTTTTTGGGGTGAGG 0.483 FAM46C 54855 broad.mit.edu 37 1 118166248 118166248 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:118166248G>A uc001ehe.2 + 2 957 c.758G>A c.(757-759)CGG>CAG p.R253Q NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN hypothetical protein LOC54855 253 0 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CTTCTTGTGCGGGACTTCAGG 0.517 Multiple Myeloma(3;1.13e-06) HRNR 388697 broad.mit.edu 37 1 152192393 152192393 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:152192393C>T uc001ezt.1 - 3 1788 c.1712G>A c.(1711-1713)CGT>CAT p.R571H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 571 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATATGGGCCACGGCTTGAAGA 0.592 SPTA1 6708 broad.mit.edu 37 1 158639308 158639308 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:158639308G>A uc001fst.1 - 14 1922 c.1723C>T c.(1723-1725)CGT>TGT p.R575C NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 575 Spectrin 6. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGCAATCTACGTCTAGTGGCA 0.448 CCDC19 25790 broad.mit.edu 37 1 159846467 159846467 + Missense_Mutation SNP G A A rs141229765 TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:159846467G>A uc001fui.2 - 10 1249 c.1231C>T c.(1231-1233)CGG>TGG p.R411W CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R326W|CCDC19_uc001ful.2_Missense_Mutation_p.R326W|CCDC19_uc009wtc.1_Missense_Mutation_p.A410V NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 411 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) ATCTTCTTCCGCGCATTTTCC 0.577 ANGEL2 90806 broad.mit.edu 37 1 213178541 213178541 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:213178541G>A uc001hjz.2 - 5 1123 c.968C>T c.(967-969)ACG>ATG p.T323M ANGEL2_uc010pto.1_Missense_Mutation_p.T197M|ANGEL2_uc010ptp.1_Missense_Mutation_p.T197M|ANGEL2_uc001hka.2_Missense_Mutation_p.T154M|ANGEL2_uc010ptq.1_RNA NM_144567 NP_653168 Q5VTE6 ANGE2_HUMAN LOC90806 protein 323 0 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) TGCCAATTGCGTCAGCTTAAT 0.453 USH2A 7399 broad.mit.edu 37 1 216143995 216143995 + Missense_Mutation SNP G A A rs151057466 by1000genomes TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:216143995G>A uc001hku.1 - 36 7316 c.6929C>T c.(6928-6930)ACG>ATG p.T2310M NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2310 Fibronectin type-III 9.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACCTTTGGCCGTGCATGCTTG 0.408 HNSCC(13;0.011) LYST 1130 broad.mit.edu 37 1 235940405 235940405 + Silent SNP G A A rs146990900 TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr1:235940405G>A uc001hxj.2 - 17 5593 c.5418C>T c.(5416-5418)CAC>CAT p.H1806H LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1806 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) CACCAATTTCGTGCAGAATGC 0.348 Chediak-Higashi_syndrome PLXDC2 84898 broad.mit.edu 37 10 20466312 20466312 + Missense_Mutation SNP C G G TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr10:20466312C>G uc001iqg.1 + 9 1672 c.1035C>G c.(1033-1035)AAC>AAG p.N345K PLXDC2_uc001iqh.1_Missense_Mutation_p.N296K|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 345 Extracellular (Potential).|PSI. integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 TTGGCTTCAACTGCAGTTGGT 0.294 OR4X2 119764 broad.mit.edu 37 11 48266683 48266683 + Missense_Mutation SNP T C C TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr11:48266683T>C uc001ngs.1 + 1 28 c.28T>C c.(28-30)TCT>CCT p.S10P NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCTGGTACTTTCTCCCAACCA 0.423 LRRC55 219527 broad.mit.edu 37 11 56950158 56950158 + Splice_Site SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr11:56950158G>A uc001njl.1 + 1 937 c.790_splice c.e1+1 p.D264_splice NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 integral to membrane 0 TGTACAGCAGGTAATAGAGGG 0.587 APLNR 187 broad.mit.edu 37 11 57003536 57003536 + Missense_Mutation SNP G A A rs137997556 TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr11:57003536G>A uc001njo.2 - 1 1392 c.943C>T c.(943-945)CGC>TGC p.R315C APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 315 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 TGGCGGAAGCGGGGGTCGAAA 0.587 SMTNL1 219537 broad.mit.edu 37 11 57310651 57310651 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr11:57310651C>T uc009ymh.1 + 2 590 c.590C>T c.(589-591)ACA>ATA p.T197I NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 179 ovary(1) 1 CAGGAGGAGACAGGCCAGAGG 0.547 CD248 57124 broad.mit.edu 37 11 66082764 66082764 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr11:66082764C>T uc001ohm.1 - 1 1752 c.1735G>A c.(1735-1737)GCC>ACC p.A579T NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 579 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) AGCTGGGTGGCCTGGGTTCTG 0.612 C12orf57 113246 broad.mit.edu 37 12 7054965 7054965 + Silent SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr12:7054965C>T uc001qrz.2 + 3 343 c.261C>T c.(259-261)TCC>TCT p.S87S PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank NM_138425 NP_612434 Q99622 C10_HUMAN C10 protein 87 0 TGGTCAAGTCCTACGAAGCCC 0.602 ACSM4 341392 broad.mit.edu 37 12 7469737 7469737 + Missense_Mutation SNP G A A rs139422294 by1000genomes TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr12:7469737G>A uc001qsx.1 + 4 625 c.625G>A c.(625-627)GCC>ACC p.A209T NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 209 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 TTGCAGATTCGCCTCTGAAGA 0.483 TM7SF3 51768 broad.mit.edu 37 12 27127064 27127064 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr12:27127064G>A uc010sjl.1 - 12 1785 c.1547C>T c.(1546-1548)CCA>CTA p.P516L NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 precursor 516 integral to membrane|plasma membrane upper_aerodigestive_tract(2) 2 Colorectal(261;0.0847) TAACTTGTATGGGTGGGGAGG 0.493 DIP2B 57609 broad.mit.edu 37 12 51122397 51122397 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr12:51122397C>T uc001rwv.2 + 30 3733 c.3577C>T c.(3577-3579)CGG>TGG p.R1193W DIP2B_uc009zlt.2_Missense_Mutation_p.R623W NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1193 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 GTACTCTTCTCGGCAGATCGC 0.532 ACACB 32 broad.mit.edu 37 12 109680275 109680275 + Missense_Mutation SNP C G G TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr12:109680275C>G uc001tob.2 + 37 5175 c.5056C>G c.(5056-5058)CCC>GCC p.P1686A ACACB_uc001toc.2_Missense_Mutation_p.P1686A|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.P352A NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1686 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CAAGCAAGGGCCCCAGCACGG 0.522 KSR2 283455 broad.mit.edu 37 12 118298128 118298128 + Nonsense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr12:118298128G>A uc001two.2 - 2 257 c.202C>T c.(202-204)CGA>TGA p.R68* NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 97 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCGACGATTCGGAACCAGTGC 0.627 RBM25 58517 broad.mit.edu 37 14 73569957 73569957 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr14:73569957C>T uc001xno.2 + 10 1133 c.925C>T c.(925-927)CGG>TGG p.R309W RBM25_uc010ttu.1_Missense_Mutation_p.R309W|RBM25_uc001xnp.2_Missense_Mutation_p.R104W NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 309 Necessary for nuclear speckle localization.|Glu-rich.|Arg-rich. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) tgagaaagaacggagagaaag 0.085 MKRN3 7681 broad.mit.edu 37 15 23811493 23811493 + Silent SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr15:23811493C>T uc001ywh.3 + 1 1040 c.564C>T c.(562-564)GAC>GAT p.D188D MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.D188D NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 188 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) ACAATGCAGACCGTGGAGCTG 0.617 GABRA5 2558 broad.mit.edu 37 15 27193227 27193227 + Silent SNP T A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr15:27193227T>A uc001zbd.1 + 12 1575 c.1236T>A c.(1234-1236)ACT>ACA p.T412T GABRA5_uc001zbe.1_RNA NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 412 Cytoplasmic (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAGAGAAGACTTCTGAAAGCA 0.453 HERC2 8924 broad.mit.edu 37 15 28518115 28518115 + Frame_Shift_Del DEL C - - TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr15:28518115delC uc001zbj.2 - 8 942 c.836delG c.(835-837)GGAfs p.G279fs HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 279 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGGATGCTTCCTGGCCCTTT 0.592 DNAJA4 55466 broad.mit.edu 37 15 78567950 78567950 + Missense_Mutation SNP C G G TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr15:78567950C>G uc002bdj.1 + 5 874 c.757C>G c.(757-759)CAG>GAG p.Q253E DNAJA4_uc002bdi.2_Missense_Mutation_p.Q282E|DNAJA4_uc002bdk.2_Missense_Mutation_p.Q226E|DNAJA4_uc002bdm.1_Missense_Mutation_p.Q37E NM_001130182 NP_001123654 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 253 protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding skin(1) 1 TAGTGTCTTTCAGAGACGAGG 0.413 LRRC28 123355 broad.mit.edu 37 15 99901711 99901711 + Missense_Mutation SNP T A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr15:99901711T>A uc002bva.1 + 8 1021 c.866T>A c.(865-867)CTG>CAG p.L289Q LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.L135Q|LRRC28_uc010urt.1_Missense_Mutation_p.L103Q|LRRC28_uc002bvc.1_Missense_Mutation_p.L289Q|LRRC28_uc010uru.1_Missense_Mutation_p.L220Q|LRRC28_uc002bvd.1_Intron NM_144598 NP_653199 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 289 0 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) CACAGCTTGCTGAAAGGTACG 0.458 OREG0023509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RBBP6 5930 broad.mit.edu 37 16 24583037 24583037 + Silent SNP T C C TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr16:24583037T>C uc002dmh.2 + 18 5690 c.4650T>C c.(4648-4650)GAT>GAC p.D1550D RBBP6_uc002dmi.2_Silent_p.D1516D|RBBP6_uc010bxr.2_Silent_p.D710D|RBBP6_uc002dmk.2_Silent_p.D1383D NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1550 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) CCACTTATGATACTAAACGGC 0.363 PITPNA 5306 broad.mit.edu 37 17 1456417 1456417 + Silent SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr17:1456417C>T uc002fst.3 - 3 334 c.78G>A c.(76-78)GTG>GTA p.V26V PITPNA_uc010cjt.2_5'UTR|PITPNA_uc010cju.2_5'UTR|PITPNA_uc010vqn.1_RNA NM_006224 NP_006215 Q00169 PIPNA_HUMAN phosphatidylinositol transfer protein, alpha 26 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) TGGCCTCAGCCACAGAATACA 0.512 DVL2 1856 broad.mit.edu 37 17 7134114 7134114 + Missense_Mutation SNP A C C TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr17:7134114A>C uc002gez.1 - 2 479 c.197T>G c.(196-198)GTG>GGG p.V66G DVL2_uc010vtr.1_Missense_Mutation_p.V66G|DVL2_uc010vts.1_5'Flank|DVL2_uc010clz.1_Missense_Mutation_p.V66G NM_004422 NP_004413 O14641 DVL2_HUMAN dishevelled 2 66 DIX. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity lung(1)|kidney(1) 2 TTCCTTCACCACCCTGCCAAG 0.577 SLC47A1 55244 broad.mit.edu 37 17 19459334 19459334 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr17:19459334G>A uc002gvy.1 + 10 966 c.880G>A c.(880-882)GCT>ACT p.A294T SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Missense_Mutation_p.A294T|SLC47A1_uc010vyz.1_Missense_Mutation_p.A271T|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.A99T|SLC47A1_uc010vza.1_Missense_Mutation_p.A6T|SLC47A1_uc010vzb.1_Missense_Mutation_p.A28T|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 294 Extracellular (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) GGAGCTGGGCGCTCAGTCCAT 0.582 KSR1 8844 broad.mit.edu 37 17 25909866 25909866 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr17:25909866C>T uc010crg.2 + 5 749 c.304C>T c.(304-306)CCC>TCC p.P102S KSR1_uc002gzj.1_Intron NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 237 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(1) 4 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CTCAGACTCCCCCACCCCCAG 0.706 NF1 4763 broad.mit.edu 37 17 29654793 29654793 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr17:29654793G>A uc002hgg.2 + 38 5878 c.5545G>A c.(5545-5547)GAT>AAT p.D1849N NF1_uc002hgh.2_Missense_Mutation_p.D1828N|NF1_uc002hgi.1_Missense_Mutation_p.D861N|NF1_uc010cso.2_Missense_Mutation_p.D37N NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1849 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.D1849N(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCGGCCAAAAGATGTCCCTGG 0.468 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) CALCOCO2 10241 broad.mit.edu 37 17 46937756 46937756 + Silent SNP A G G TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr17:46937756A>G uc002iof.2 + 11 1168 c.1089A>G c.(1087-1089)TCA>TCG p.S363S CALCOCO2_uc010wlp.1_Silent_p.S384S|CALCOCO2_uc010wlq.1_Silent_p.S291S|CALCOCO2_uc010wlr.1_Silent_p.S387S|CALCOCO2_uc010wls.1_Silent_p.S321S NM_005831 NP_005822 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 363 response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity ovary(1) 1 TACCTACTTCAGATGAAGGAG 0.438 ACE 1636 broad.mit.edu 37 17 61560492 61560492 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr17:61560492G>A uc002jau.1 + 9 1467 c.1445G>A c.(1444-1446)CGT>CAT p.R482H ACE_uc010wpi.1_Intron|ACE_uc010ddu.1_Missense_Mutation_p.R299H|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 482 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) TTTAGTGGGCGTACCCCCCCT 0.552 SLC38A10 124565 broad.mit.edu 37 17 79220094 79220094 + Silent SNP G C C TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr17:79220094G>C uc002jzz.1 - 16 2997 c.2622C>G c.(2620-2622)CTC>CTG p.L874L SLC38A10_uc002jzy.1_Silent_p.L792L NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 874 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) ATTCCTCTGCGAGGCGCTCCT 0.657 DLGAP1 9229 broad.mit.edu 37 18 3534543 3534543 + Frame_Shift_Del DEL G - - TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr18:3534543delG uc002kmf.2 - 7 2195 c.2128delC c.(2128-2130)CTGfs p.L710fs DLGAP1_uc010wyz.1_Frame_Shift_Del_p.L710fs|DLGAP1_uc002kme.1_Frame_Shift_Del_p.L408fs|DLGAP1_uc010dkn.2_Frame_Shift_Del_p.L418fs|DLGAP1_uc010wyw.1_Frame_Shift_Del_p.L416fs|DLGAP1_uc010wyx.1_Frame_Shift_Del_p.L432fs|DLGAP1_uc010wyy.1_Frame_Shift_Del_p.L394fs|DLGAP1_uc002kmg.2_Frame_Shift_Del_p.L408fs NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 710 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GAATTTTCCAGATTATCATGG 0.498 NAPG 8774 broad.mit.edu 37 18 10548993 10548993 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr18:10548993G>A uc002kon.2 + 11 922 c.695G>A c.(694-696)TGT>TAT p.C232Y NAPG_uc010wzr.1_Missense_Mutation_p.C150Y|NAPG_uc002koo.2_Missense_Mutation_p.C145Y|NAPG_uc002kop.2_Missense_Mutation_p.C145Y NM_003826 NP_003817 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment 232 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding 0 AGTGAAGACTGTGCTGCCCTG 0.418 MUC16 94025 broad.mit.edu 37 19 9048365 9048365 + Missense_Mutation SNP G T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr19:9048365G>T uc002mkp.2 - 5 33470 c.33266C>A c.(33265-33267)ACT>AAT p.T11089N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11091 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 AGGTGAAACAGTTGGAGTTGG 0.488 NFIX 4784 broad.mit.edu 37 19 13201118 13201118 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr19:13201118G>A uc010xmx.1 + 10 1485 c.1432G>A c.(1432-1434)GCA>ACA p.A478T NFIX_uc002mwd.2_Silent_p.S420S|NFIX_uc002mwe.2_Silent_p.S412S|NFIX_uc002mwf.2_Silent_p.S382S|NFIX_uc002mwg.1_Silent_p.S419S Q14938 NFIX_HUMAN RecName: Full=Nuclear factor 1; 470 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CACAGCATTCGCAACGACAGG 0.642 CCDC105 126402 broad.mit.edu 37 19 15132653 15132653 + Silent SNP A G G TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr19:15132653A>G uc002nae.2 + 6 1272 c.1173A>G c.(1171-1173)GAA>GAG p.E391E NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 391 microtubule cytoskeleton organization microtubule ovary(1) 1 AGACCGCAGAAAAGCTGGACA 0.647 CLPTM1 1209 broad.mit.edu 37 19 45494188 45494188 + Silent SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr19:45494188C>T uc002pai.2 + 11 1419 c.1404C>T c.(1402-1404)ACC>ACT p.T468T CLPTM1_uc010xxf.1_Silent_p.T366T|CLPTM1_uc010xxg.1_Silent_p.T454T NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 468 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) AGTCCTCGACCAAAGTGTATG 0.607 ERCC1 2067 broad.mit.edu 37 19 45923654 45923654 + Missense_Mutation SNP T C C TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr19:45923654T>C uc002pbs.1 - 4 499 c.353A>G c.(352-354)AAT>AGT p.N118S ERCC1_uc002pbt.1_Missense_Mutation_p.N118S|ERCC1_uc002pbu.1_Missense_Mutation_p.N46S|ERCC1_uc002pbv.2_Missense_Mutation_p.N118S NM_001983 NP_001974 P07992 ERCC1_HUMAN excision repair cross-complementing 1 isofrom 2 118 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding ovary(2) 2 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) CCAGGGCACATTGCGCACGAA 0.562 NER PRR12 57479 broad.mit.edu 37 19 50099367 50099367 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr19:50099367C>T uc002poo.3 + 4 1775 c.1775C>T c.(1774-1776)TCA>TTA p.S592L NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TACCTGAGCTCAGTCTTGGCC 0.657 LENG8 114823 broad.mit.edu 37 19 54968952 54968952 + Silent SNP C A A rs142424676 by1000genomes TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr19:54968952C>A uc002qfv.1 + 11 1791 c.1647C>A c.(1645-1647)GTC>GTA p.V549V LENG8_uc002qfw.2_Silent_p.V586V Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 549 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) TGTGCATGGTCAAGTGCCACT 0.537 ZNF552 79818 broad.mit.edu 37 19 58319417 58319417 + Silent SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr19:58319417C>T uc002qqg.2 - 3 1385 c.1215G>A c.(1213-1215)AAG>AAA p.K405K ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Silent_p.K401K NM_024762 NP_079038 Q9H707 ZN552_HUMAN zinc finger protein 552 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CTCATAAGCCCTTTCTTTTGT 0.398 APOB 338 broad.mit.edu 37 2 21249770 21249770 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr2:21249770G>A uc002red.2 - 15 2262 c.2134C>T c.(2134-2136)CCA>TCA p.P712S NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 712 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) ACACTGTCTGGGAAAAATCCT 0.413 MSH6 2956 broad.mit.edu 37 2 48026476 48026476 + Missense_Mutation SNP A G G TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr2:48026476A>G uc002rwd.3 + 4 1506 c.1354A>G c.(1354-1356)ATG>GTG p.M452V MSH6_uc002rwc.2_Missense_Mutation_p.M452V|MSH6_uc010fbj.2_Missense_Mutation_p.M150V|MSH6_uc010yoi.1_Missense_Mutation_p.M322V|MSH6_uc010yoj.1_Missense_Mutation_p.M150V NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 452 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCTGGTATTCATGAAAGGCAA 0.453 Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome SEMA4F 10505 broad.mit.edu 37 2 74900889 74900889 + Silent SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr2:74900889G>A uc002sna.1 + 7 867 c.756G>A c.(754-756)ACG>ACA p.T252T SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Silent_p.T219T|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 252 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 TCTTCTTTACGGAGACTTCCC 0.567 Unknown 0 broad.mit.edu 37 2 95539132 95539132 + Splice_Site SNP A G G rs74376788 by1000genomes TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr2:95539132A>G uc002stv.1 - 9 c.1317_splice c.e9+1 TEKT4_uc002stw.1_Intron|TEKT4_uc010fhr.1_RNA Homo sapiens cDNA FLJ44118 fis, clone TESTI4047069. AGCAGAACTTACACAGTCAGA 0.567 SDPR 8436 broad.mit.edu 37 2 192711627 192711627 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr2:192711627C>T uc002utb.2 - 1 355 c.25G>A c.(25-27)GAA>AAA p.E9K NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 9 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TGGAACTTTTCGGCCTGTGCA 0.612 SIRPG 55423 broad.mit.edu 37 20 1615912 1615912 + Splice_Site SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr20:1615912C>T uc002wfm.1 - 4 1146 c.1081_splice c.e4+1 p.G361_splice SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 AGTAACCTCACCAGGGGTAGC 0.428 TSHZ2 128553 broad.mit.edu 37 20 51872367 51872367 + Silent SNP C T T rs138612067 TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr20:51872367C>T uc002xwo.2 + 2 3326 c.2370C>T c.(2368-2370)CAC>CAT p.H790H NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 790 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CTCAGAAGCACGCTCTGTCTG 0.557 ADRM1 11047 broad.mit.edu 37 20 60882680 60882680 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr20:60882680C>T uc002ycn.2 + 7 732 c.652C>T c.(652-654)CCG>TCG p.P218S ADRM1_uc002yco.2_Missense_Mutation_p.P218S NM_007002 NP_008933 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 precursor 218 Ser-rich. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) AGCGGTCACCCCGTCATCCAC 0.701 OSBP2 23762 broad.mit.edu 37 22 31137177 31137177 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr22:31137177G>A uc003aiy.1 + 2 778 c.674G>A c.(673-675)CGT>CAT p.R225H OSBP2_uc011ala.1_Missense_Mutation_p.R60H|OSBP2_uc010gwc.1_Missense_Mutation_p.R52H|OSBP2_uc003aix.1_Missense_Mutation_p.R225H|OSBP2_uc011alb.1_Missense_Mutation_p.R225H|OSBP2_uc003aiz.1_Missense_Mutation_p.R225H NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 225 PH. lipid transport membrane lipid binding breast(1)|skin(1) 2 CACACGTGCCGTGGAACCATC 0.542 EP300 2033 broad.mit.edu 37 22 41564810 41564810 + Silent SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr22:41564810C>T uc003azl.3 + 25 4506 c.4111C>T c.(4111-4113)CTG>TTG p.L1371L NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1371 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TGGTGTTGACCTGTGCTTCTT 0.478 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome ACAA1 30 broad.mit.edu 37 3 38175476 38175476 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr3:38175476C>T uc003cht.2 - 3 497 c.290G>A c.(289-291)GGG>GAG p.G97E ACAA1_uc003chu.2_Missense_Mutation_p.G97E|ACAA1_uc010hgy.2_Missense_Mutation_p.G97E|ACAA1_uc010hgz.2_Missense_Mutation_p.G97E|ACAA1_uc003chv.2_5'UTR NM_001607 NP_001598 P09110 THIK_HUMAN acetyl-Coenzyme A acyltransferase 1 isoform a 97 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) CATGATTGCCCCGGCCCCAGG 0.522 C3orf67 200844 broad.mit.edu 37 3 58870384 58870384 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr3:58870384C>T uc003dkt.1 - 7 636 c.227G>A c.(226-228)CGA>CAA p.R76Q uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_5'UTR NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN hypothetical protein LOC200844 76 0 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) TTGACAGCTTCGTGGTATAAT 0.393 C3orf17 25871 broad.mit.edu 37 3 112738408 112738408 + Silent SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr3:112738408C>T uc003dzr.2 - 1 148 c.87G>A c.(85-87)CAG>CAA p.Q29Q C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_5'UTR|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Silent_p.Q28Q|C3orf17_uc011bib.1_5'UTR|C3orf17_uc011bic.1_5'UTR|C3orf17_uc011bid.1_RNA NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 29 integral to membrane 0 CGCCGGGGTTCTGCACTGTCA 0.731 C3orf17 25871 broad.mit.edu 37 3 112738411 112738411 + Silent SNP C T T rs144842364 byFrequency TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr3:112738411C>T uc003dzr.2 - 1 145 c.84G>A c.(82-84)GTG>GTA p.V28V C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_5'UTR|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Silent_p.V27V|C3orf17_uc011bib.1_5'UTR|C3orf17_uc011bic.1_5'UTR|C3orf17_uc011bid.1_RNA NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 28 integral to membrane 0 CGGGGTTCTGCACTGTCACTG 0.726 C3orf17 25871 broad.mit.edu 37 3 112738459 112738459 + Nonsense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr3:112738459C>T uc003dzr.2 - 1 97 c.36G>A c.(34-36)TGG>TGA p.W12* C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_5'UTR|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Nonsense_Mutation_p.W11*|C3orf17_uc011bib.1_5'UTR|C3orf17_uc011bic.1_5'UTR|C3orf17_uc011bid.1_RNA NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 12 integral to membrane 0 TCACACGGTTCCACGGCTCCA 0.701 IFT80 57560 broad.mit.edu 37 3 160075296 160075296 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr3:160075296C>T uc011boy.1 - 7 1053 c.620G>A c.(619-621)GGT>GAT p.G207D IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.G70D|IFT80_uc003fdd.1_Translation_Start_Site|IFT80_uc003fde.1_Missense_Mutation_p.G70D NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 207 WD 4. cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ACAGTCTTCACCAGCAGATAA 0.264 GPR125 166647 broad.mit.edu 37 4 22414939 22414939 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr4:22414939C>T uc003gqm.1 - 14 2363 c.2098G>A c.(2098-2100)GTT>ATT p.V700I GPR125_uc010ieo.1_Missense_Mutation_p.V556I NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 700 Extracellular (Potential).|GPS. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) CGGGCTGCAACAGCATCTGCT 0.443 PHOX2B 8929 broad.mit.edu 37 4 41748308 41748308 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr4:41748308C>T uc003gwf.3 - 3 821 c.461G>A c.(460-462)CGC>CAC p.R154H NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 154 Homeobox. positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 CTCCTGCTTGCGAAACTTGGC 0.617 Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome PDGFRA 5156 broad.mit.edu 37 4 55131142 55131142 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr4:55131142G>A uc003han.3 + 5 1016 c.685G>A c.(685-687)GAA>AAA p.E229K PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 229 Ig-like C2-type 3.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TAAGTCAGGGGAAACGATTGT 0.413 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) SGMS2 166929 broad.mit.edu 37 4 108820833 108820833 + Silent SNP C T T rs150340532 TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr4:108820833C>T uc003hyl.3 + 4 1113 c.558C>T c.(556-558)TTC>TTT p.F186F uc003hym.1_Intron|SGMS2_uc003hyn.2_Silent_p.F186F|SGMS2_uc003hyo.2_Silent_p.F186F NM_001136258 NP_001129730 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 186 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) GAATGCATTTCCAGTGTGCTC 0.398 AP1AR 55435 broad.mit.edu 37 4 113189433 113189433 + Silent SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr4:113189433G>A uc003iaj.3 + 10 1130 c.777G>A c.(775-777)GAG>GAA p.E259E AP1AR_uc003iak.3_Silent_p.E226E NM_018569 NP_061039 Q63HQ0 AP1AR_HUMAN adaptor-related protein complex 1 associated 259 protein transport early endosome|Golgi apparatus|late endosome|transport vesicle 0 ATGGGCTGGAGTGGGAAAATG 0.403 MAP3K1 4214 broad.mit.edu 37 5 56160697 56160697 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr5:56160697C>T uc003jqw.3 + 4 1472 c.971C>T c.(970-972)CCT>CTT p.P324L NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 324 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) CAGATAGGGCCTAACTCTTTC 0.468 Unknown 0 broad.mit.edu 37 5 79655242 79655242 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr5:79655242C>T uc003kgo.2 - 1 666 c.503G>A c.(502-504)CGT>CAT p.R168H SubName: Full=Putative uncharacterized protein; Flags: Fragment; accacctccacgaccaccacc 0.214 PAM 5066 broad.mit.edu 37 5 102284128 102284128 + Missense_Mutation SNP G C C TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr5:102284128G>C uc003knw.2 + 8 995 c.622G>C c.(622-624)GTT>CTT p.V208L PAM_uc003kns.2_Missense_Mutation_p.V208L|PAM_uc003knt.2_Missense_Mutation_p.V208L|PAM_uc003knu.2_Missense_Mutation_p.V208L|PAM_uc003knv.2_Missense_Mutation_p.V208L|PAM_uc011cuz.1_Missense_Mutation_p.V111L NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 208 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TGTTGACACTGTTATCCCAGC 0.303 KIF4B 285643 broad.mit.edu 37 5 154396823 154396823 + Missense_Mutation SNP C A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr5:154396823C>A uc010jih.1 + 1 3564 c.3404C>A c.(3403-3405)ACC>AAC p.T1135N NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1135 Interaction with PRC1 (By similarity).|Globular (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTTGAACAGACCCAGGATTCC 0.537 GRM6 2916 broad.mit.edu 37 5 178416095 178416095 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr5:178416095C>T uc003mjr.2 - 6 1374 c.1195G>A c.(1195-1197)GGC>AGC p.G399S GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Missense_Mutation_p.G19S NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 399 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGCACCTTGCCCTCCTGCTCG 0.667 DSP 1832 broad.mit.edu 37 6 7581804 7581804 + Splice_Site SNP T A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr6:7581804T>A uc003mxp.1 + 23 5658 c.5379_splice c.e23+2 p.E1793_splice DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCTTTAGAGGTATTCACAAAT 0.373 BTBD9 114781 broad.mit.edu 37 6 38224188 38224188 + Missense_Mutation SNP C A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr6:38224188C>A uc003ooa.3 - 10 2135 c.1559G>T c.(1558-1560)TGC>TTC p.C520F BTBD9_uc003ony.3_Missense_Mutation_p.C452F|BTBD9_uc010jwv.2_Missense_Mutation_p.C481F|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.C520F NM_052893 NP_443125 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 isoform a 520 cell adhesion 0 AACTTACTTGCAGGAGACTTT 0.408 ABCA13 154664 broad.mit.edu 37 7 48312026 48312026 + Silent SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr7:48312026C>T uc003toq.2 + 17 2788 c.2763C>T c.(2761-2763)TAC>TAT p.Y921Y ABCA13_uc010kyr.2_Silent_p.Y424Y NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 921 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ACACAGTCTACGCTATCAGGA 0.378 WBSCR17 64409 broad.mit.edu 37 7 70880884 70880884 + Missense_Mutation SNP A G G TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr7:70880884A>G uc003tvy.2 + 4 599 c.599A>G c.(598-600)AAG>AGG p.K200R WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 200 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GAGGAGCTGAAGGTCCCCCTA 0.498 PCLO 27445 broad.mit.edu 37 7 82581587 82581587 + Silent SNP A G G TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr7:82581587A>G uc003uhx.2 - 5 8971 c.8682T>C c.(8680-8682)GAT>GAC p.D2894D PCLO_uc003uhv.2_Silent_p.D2894D|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2825 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTACTTCCCCATCAGTGATTC 0.438 ZCWPW1 55063 broad.mit.edu 37 7 100017491 100017491 + Missense_Mutation SNP G C C TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr7:100017491G>C uc003uut.2 - 4 292 c.44C>G c.(43-45)CCA>CGA p.P15R ZCWPW1_uc011kjq.1_5'Flank|ZCWPW1_uc003uur.2_5'Flank|ZCWPW1_uc003uus.2_5'UTR|ZCWPW1_uc011kjr.1_Missense_Mutation_p.P14R|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kjs.1_5'Flank|ZCWPW1_uc011kjt.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kju.1_Missense_Mutation_p.P14R NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 15 zinc ion binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GATTCTCTTTGGTCCCTTTCC 0.413 FOXP2 93986 broad.mit.edu 37 7 114304409 114304409 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr7:114304409G>A uc003vhb.2 + 16 2295 c.1921G>A c.(1921-1923)GTC>ATC p.V641I FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.V666I|FOXP2_uc003vha.2_Missense_Mutation_p.V549I|FOXP2_uc011kmu.1_Missense_Mutation_p.V658I|FOXP2_uc011kmv.1_Missense_Mutation_p.V640I|FOXP2_uc010ljz.1_Missense_Mutation_p.V456I NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 641 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 ACTGCAGGCCGTCCACGAAGA 0.483 TES 26136 broad.mit.edu 37 7 115889085 115889085 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr7:115889085G>A uc003vho.2 + 3 306 c.125G>A c.(124-126)CGT>CAT p.R42H TES_uc011kmx.1_Missense_Mutation_p.R42H|TES_uc011kmy.1_Intron|TES_uc010lka.1_Missense_Mutation_p.R33H|TES_uc003vhp.2_Missense_Mutation_p.R33H NM_015641 NP_056456 Q9UGI8 TES_HUMAN testin isoform 1 42 Cys-rich. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding 0 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) AAAATATGTCGTAACTGCAAG 0.313 WDR91 29062 broad.mit.edu 37 7 134878049 134878049 + Silent SNP G T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr7:134878049G>T uc003vsp.2 - 11 1655 c.1593C>A c.(1591-1593)GGC>GGA p.G531G WDR91_uc010lmq.2_Silent_p.G120G|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 531 WD 3. breast(2)|ovary(1)|skin(1) 4 TGCCCTTGCTGCCGATGTCTG 0.622 HTR5A 3361 broad.mit.edu 37 7 154863097 154863097 + Missense_Mutation SNP C T T rs150537072 byFrequency TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr7:154863097C>T uc003wlu.1 + 1 552 c.488C>T c.(487-489)GCG>GTG p.A163V uc011kvt.1_5'UTR|uc003wlt.2_5'UTR NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 163 Helical; Name=4; (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GTCATGATCGCGCTCACCTGG 0.627 PTK2B 2185 broad.mit.edu 37 8 27310672 27310672 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr8:27310672G>A uc003xfn.1 + 33 3398 c.2590G>A c.(2590-2592)GCA>ACA p.A864T PTK2B_uc003xfo.1_Missense_Mutation_p.A864T|PTK2B_uc003xfp.1_Missense_Mutation_p.A864T|PTK2B_uc003xfq.1_Missense_Mutation_p.A822T NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 864 Interaction with TGFB1I1 (By similarity).|Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) GAGGCTGGGCGCACAGGTATG 0.498 TEX15 56154 broad.mit.edu 37 8 30705979 30705979 + Silent SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr8:30705979G>A uc003xil.2 - 1 555 c.555C>T c.(553-555)TCC>TCT p.S185S NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 185 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AAGCATTACCGGACTCCTGTT 0.413 RRAGA 10670 broad.mit.edu 37 9 19050150 19050150 + Missense_Mutation SNP T A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr9:19050150T>A uc003znj.2 + 1 779 c.493T>A c.(493-495)TGG>AGG p.W165R NM_006570 NP_006561 Q7L523 RRAGA_HUMAN Ras-related GTP binding A 165 apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction Golgi apparatus|lysosome|nucleus GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity 0 AACGTCCATCTGGGATGAGAC 0.522 CCL19 6363 broad.mit.edu 37 9 34690006 34690006 + Missense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr9:34690006C>T uc003zvn.2 - 3 335 c.197G>A c.(196-198)AGG>AAG p.R66K CCL19_uc010mkf.2_Intron NM_006274 NP_006265 Q99731 CCL19_HUMAN small inducible cytokine A19 precursor 66 activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation extracellular space CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity 0 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) CTGGCGGCCCCTCAGTGTGGT 0.622 PAX5 5079 broad.mit.edu 37 9 36846902 36846902 + Missense_Mutation SNP T C C TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr9:36846902T>C uc003zzo.1 - 9 1485 c.1037A>G c.(1036-1038)TAC>TGC p.Y346C PAX5_uc011lpt.1_Missense_Mutation_p.Y142C|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.Y246C|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.Y303C|PAX5_uc011lqa.1_Missense_Mutation_p.Y238C|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.Y312C|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.T269A NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 346 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(11)|p.Y346C(1) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) AGGGTGGCTGTAGGGACTCCC 0.597 T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL RAD23B 5887 broad.mit.edu 37 9 110084309 110084309 + Nonsense_Mutation SNP C T T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr9:110084309C>T uc004bde.2 + 7 1094 c.727C>T c.(727-729)CAA>TAA p.Q243* RAD23B_uc011lwa.1_Nonsense_Mutation_p.Q243*|RAD23B_uc011lwb.1_Nonsense_Mutation_p.Q222* NM_002874 NP_002865 P54727 RD23B_HUMAN UV excision repair protein RAD23 homolog B 243 nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding ovary(1) 1 TGACCCCCCTCAAGCAGCTAG 0.458 Direct_reversal_of_damage|NER C9orf91 203197 broad.mit.edu 37 9 117396107 117396107 + Silent SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr9:117396107G>A uc004bjd.3 + 6 751 c.534G>A c.(532-534)CGG>CGA p.R178R C9orf91_uc004bje.3_Silent_p.R157R|C9orf91_uc004bjf.3_Silent_p.R77R NM_153045 NP_694590 Q5VZI3 CI091_HUMAN hypothetical protein LOC203197 178 integral to membrane pancreas(1) 1 TGAGACACCGGGTGCTGCTGG 0.567 SEC16A 9919 broad.mit.edu 37 9 139358176 139358176 + Missense_Mutation SNP G A A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 08ac57ec-0036-4134-a9bb-f22eaa27ab0d fc3f70c0-3e8f-4146-a308-8a71cb1031a0 g.chr9:139358176G>A uc004chx.2 - 10 4772 c.4463C>T c.(4462-4464)ACG>ATG p.T1488M SEC16A_uc004chv.3_Missense_Mutation_p.T878M|SEC16A_uc004chw.2_Missense_Mutation_p.T1488M|SEC16A_uc010nbn.2_Missense_Mutation_p.T1488M NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1310 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CTGCTCAGACGTGTGCTGCAG 0.647