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 KIAA1751 85452 broad.mit.edu 37 1 1896365 1896365 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr1:1896365G>A uc001aim.1 - 13 1693 c.1537C>T c.(1537-1539)CGC>TGC p.R513C KIAA1751_uc009vkz.1_Missense_Mutation_p.R513C NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 513 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TTGAAGGGGCGTCCTTGGAAC 0.662 RBMXL1 494115 broad.mit.edu 37 1 89448410 89448410 + Missense_Mutation SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr1:89448410C>T uc009wcx.2 - 3 1816 c.1100G>A c.(1099-1101)AGC>AAC p.S367N CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.S367N NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 367 Ser-rich. nucleotide binding|RNA binding 0 TGCTCCGCGGCTTGAACTGCT 0.517 GFI1 2672 broad.mit.edu 37 1 92946526 92946526 + Nonsense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr1:92946526G>A uc001dou.3 - 4 582 c.418C>T c.(418-420)CGA>TGA p.R140* GFI1_uc001dov.3_Nonsense_Mutation_p.R140*|GFI1_uc001dow.3_Nonsense_Mutation_p.R140* NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 140 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) CCACACGGTCGGTAGCTCTGC 0.716 DENND2C 163259 broad.mit.edu 37 1 115165651 115165651 + Missense_Mutation SNP G T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr1:115165651G>T uc001efd.1 - 6 1715 c.1013C>A c.(1012-1014)GCA>GAA p.A338E DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.A338E NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 338 skin(3) 3 all_epithelial(7;9.54e-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) TAGCTTCCATGCTGAAGGGGA 0.343 USH2A 7399 broad.mit.edu 37 1 216595737 216595737 + Translation_Start_Site SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr1:216595737C>T uc001hku.1 - 2 329 c.-58G>A c.(-60--56)GCGTG>GCATG USH2A_uc001hkv.2_Translation_Start_Site NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 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) ATCAGGCCCACGCCACTTGCC 0.408 HNSCC(13;0.011) HHIPL2 79802 broad.mit.edu 37 1 222717477 222717477 + Missense_Mutation SNP G C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr1:222717477G>C uc001hnh.1 - 2 434 c.376C>G c.(376-378)CTC>GTC p.L126V NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 126 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) AGATTCCGGAGAGGCGTCTGG 0.587 SNAP47 116841 broad.mit.edu 37 1 227935725 227935725 + Missense_Mutation SNP T A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr1:227935725T>A uc001hrf.2 + 2 837 c.423T>A c.(421-423)CAT>CAA p.H141Q SNAP47_uc001hqz.2_Missense_Mutation_p.H96Q|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Missense_Mutation_p.H141Q|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Missense_Mutation_p.H96Q NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 141 endomembrane system|membrane|perinuclear region of cytoplasm ovary(1) 1 TCATCGAGCATTTCTGGAGGG 0.597 OR6F1 343169 broad.mit.edu 37 1 247875632 247875632 + Silent SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr1:247875632C>T uc001idj.1 - 1 426 c.426G>A c.(424-426)GCG>GCA p.A142A NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGGCCAGCTGCGCTGAGAGCA 0.597 IL15RA 3601 broad.mit.edu 37 10 5995110 5995110 + Missense_Mutation SNP C A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr10:5995110C>A uc001iiv.2 - 7 834 c.752G>T c.(751-753)TGG>TTG p.W251L IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Missense_Mutation_p.W218L|IL15RA_uc001iiw.2_Missense_Mutation_p.W215L|IL15RA_uc001iix.2_Missense_Mutation_p.W182L|IL15RA_uc001iiy.2_Missense_Mutation_p.W99L NM_002189 NP_002180 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha isoform 1 251 Cytoplasmic (Potential). cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity 0 GCTGGTCCCCCAAGTCACCGG 0.557 AGAP6 414189 broad.mit.edu 37 10 51754173 51754173 + Missense_Mutation SNP G T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr10:51754173G>T uc001jix.3 + 4 778 c.380G>T c.(379-381)AGC>ATC p.S127I NM_001077665 NP_001071133 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 127 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding skin(1) 1 ATAAGAAGAAGCAACTGTACA 0.269 DUSP13 51207 broad.mit.edu 37 10 76867879 76867879 + Missense_Mutation SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr10:76867879C>T uc001jws.2 - 2 293 c.238G>A c.(238-240)GGC>AGC p.G80S DUSP13_uc001jwu.2_Intron|DUSP13_uc001jww.2_Intron|DUSP13_uc009xrs.2_5'UTR|DUSP13_uc001jwt.2_5'UTR|DUSP13_uc001jwv.2_Intron NM_001007271 NP_001007272 Q6B8I1 MDSP_HUMAN muscle-restricted dual specificity phosphatase 80 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) AAGTCAGGGCCGCCCTGACAG 0.622 MUC2 4583 broad.mit.edu 37 11 1078153 1078153 + Missense_Mutation SNP G T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr11:1078153G>T uc001lsx.1 + 4 547 c.520G>T c.(520-522)GGC>TGC p.G174C NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 174 VWFD 1. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGACTACAACGGCCTGCAGAG 0.667 UBQLN3 50613 broad.mit.edu 37 11 5529867 5529867 + Missense_Mutation SNP A T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr11:5529867A>T uc001may.1 - 2 1008 c.922T>A c.(922-924)TCC>ACC p.S308T HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 308 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATGTGTGGAAGTCCAGGGG 0.517 GYLTL1B 120071 broad.mit.edu 37 11 45946107 45946107 + Silent SNP A C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr11:45946107A>C uc001nbv.1 + 5 654 c.543A>C c.(541-543)CTA>CTC p.L181L GYLTL1B_uc001nbw.1_Silent_p.L150L|GYLTL1B_uc001nbx.1_Silent_p.L181L|GYLTL1B_uc001nby.1_5'Flank NM_152312 NP_689525 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 181 Lumenal (Potential). muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.226) TCTATGGGCTAATGAAGCTGG 0.612 OR4S2 219431 broad.mit.edu 37 11 55419288 55419288 + Missense_Mutation SNP T A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr11:55419288T>A uc001nhs.1 + 1 909 c.909T>A c.(907-909)AAT>AAA p.N303K NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) GGGGCAGAAATGTTTTCTTGG 0.274 MRE11A 4361 broad.mit.edu 37 11 94192689 94192689 + Missense_Mutation SNP A T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr11:94192689A>T uc001peu.2 - 13 1574 c.1385T>A c.(1384-1386)GTG>GAG p.V462E MRE11A_uc001pev.2_Missense_Mutation_p.V462E|MRE11A_uc009ywj.2_Missense_Mutation_p.V465E NM_005591 NP_005582 P49959 MRE11_HUMAN meiotic recombination 11 homolog A isoform 1 462 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(4)|lung(1) 5 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) CTCCTTGTCCACAAATTCTTG 0.398 Homologous_recombination Ataxia-Telangiectasia-Like_Disorder PIWIL4 143689 broad.mit.edu 37 11 94328516 94328516 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr11:94328516G>A uc001pfa.2 + 10 1403 c.1192G>A c.(1192-1194)GCT>ACT p.A398T PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 398 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GCTGATGAAGGCTGTGGCTGA 0.502 INHBE 83729 broad.mit.edu 37 12 57849443 57849443 + Missense_Mutation SNP C G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr12:57849443C>G uc001snw.2 + 1 348 c.124C>G c.(124-126)CTG>GTG p.L42V NM_031479 NP_113667 P58166 INHBE_HUMAN activin beta E precursor 42 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1) 3 AGAACGAGCTCTGGTGCTGGA 0.622 EP400NL 347918 broad.mit.edu 37 12 132589038 132589038 + Missense_Mutation SNP A G G rs144575305 by1000genomes TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr12:132589038A>G uc001ujv.2 + 1 497 c.473A>G c.(472-474)GAC>GGC p.D158G EP400NL_uc001ujr.2_Intron|EP400NL_uc001ujs.3_Missense_Mutation_p.D89G|EP400NL_uc009zyq.2_Intron|EP400NL_uc001ujt.2_Intron|EP400NL_uc001ujw.1_5'Flank RecName: Full=EP400 N-terminal-like protein; 0 CCTACAGGGGACTTCGTGGAT 0.667 KCNRG 283518 broad.mit.edu 37 13 50589662 50589662 + Silent SNP G C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr13:50589662G>C uc001vdu.2 + 1 273 c.33G>C c.(31-33)GTG>GTC p.V11V DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Silent_p.V11V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR NM_173605 NP_775876 Q8N5I3 KCNRG_HUMAN potassium channel regulator isoform 1 11 BTB. voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity 0 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) CTTTGAATGTGGGAGGGAAGA 0.433 NEK3 4752 broad.mit.edu 37 13 52715184 52715184 + Missense_Mutation SNP A G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr13:52715184A>G uc001vgi.2 - 13 1134 c.899T>C c.(898-900)ATA>ACA p.I300T NEK3_uc001vgg.2_Intron|NEK3_uc001vgh.2_Intron|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Intron NM_152720 NP_689933 P51956 NEK3_HUMAN NIMA-related kinase 3 isoform a 300 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) TCCCAAAGCTATCCTGATTCT 0.323 CTSG 1511 broad.mit.edu 37 14 25043567 25043567 + Nonsense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr14:25043567G>A uc001wpq.2 - 4 515 c.478C>T c.(478-480)CGA>TGA p.R160* NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 160 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) TGCACCTCTCGGAGTGTATCT 0.642 CLMN 79789 broad.mit.edu 37 14 95669370 95669370 + Missense_Mutation SNP C G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr14:95669370C>G uc001yef.2 - 9 2432 c.2316G>C c.(2314-2316)GAG>GAC p.E772D NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 772 integral to membrane actin binding 0 Epithelial(152;0.193) CATCGGCCTCCTCCTCCCTGG 0.567 HHIPL1 84439 broad.mit.edu 37 14 100118755 100118755 + Silent SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr14:100118755C>T uc010avs.2 + 2 515 c.450C>T c.(448-450)TCC>TCT p.S150S HHIPL1_uc001ygl.1_Silent_p.S150S NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 150 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) GCTACCTGTCCCTGGATGACA 0.602 ZNF609 23060 broad.mit.edu 37 15 64966530 64966530 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr15:64966530G>A uc002ann.2 + 4 1477 c.1477G>A c.(1477-1479)GTC>ATC p.V493I NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 493 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CCCCTCCCCCGTCCTAATTGA 0.522 ISLR 3671 broad.mit.edu 37 15 74468444 74468444 + Silent SNP G C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr15:74468444G>C uc002axg.1 + 2 1527 c.1245G>C c.(1243-1245)CTG>CTC p.L415L ISLR_uc002axh.1_Silent_p.L415L NM_005545 NP_005536 O14498 ISLR_HUMAN immunoglobulin superfamily containing 415 cell adhesion extracellular region large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TGCTCCTGCTGGGCCAAAGCC 0.617 ARNT2 9915 broad.mit.edu 37 15 80845010 80845010 + Missense_Mutation SNP G T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr15:80845010G>T uc002bfr.2 + 10 1150 c.984G>T c.(982-984)ATG>ATT p.M328I ARNT2_uc010unm.1_Missense_Mutation_p.M317I|ARNT2_uc002bfs.2_Missense_Mutation_p.M317I NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 328 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) GCATGGACATGAATGGGATGT 0.493 C15orf26 161502 broad.mit.edu 37 15 81428924 81428924 + Missense_Mutation SNP A G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr15:81428924A>G uc002bgb.2 + 3 254 c.227A>G c.(226-228)GAT>GGT p.D76G C15orf26_uc010blp.1_Missense_Mutation_p.D51G NM_173528 NP_775799 Q6P656 CO026_HUMAN hypothetical protein LOC161502 76 0 GTGAATCCTGATGATCCTGAC 0.408 PAQR4 124222 broad.mit.edu 37 16 3021597 3021597 + Missense_Mutation SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr16:3021597C>T uc002csj.3 + 3 804 c.470C>T c.(469-471)TCG>TTG p.S157L PAQR4_uc002csk.3_Missense_Mutation_p.S118L|PAQR4_uc002csl.3_Missense_Mutation_p.S83L|PAQR4_uc010uwm.1_Missense_Mutation_p.S88L NM_152341 NP_689554 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 157 Helical; (Potential). integral to membrane receptor activity 0 ACTGTGTTGTCGGGTGTGGCC 0.687 MYH11 4629 broad.mit.edu 37 16 15841499 15841499 + Missense_Mutation SNP T C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr16:15841499T>C uc002ddy.2 - 19 2446 c.2339A>G c.(2338-2340)GAG>GGG p.E780G MYH11_uc002ddv.2_Missense_Mutation_p.E787G|MYH11_uc002ddw.2_Missense_Mutation_p.E780G|MYH11_uc002ddx.2_Missense_Mutation_p.E787G|MYH11_uc010bvg.2_Missense_Mutation_p.E612G NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 780 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 ATCTCGCTCCTCCTCTAGGTG 0.498 T CBFB AML RBBP6 5930 broad.mit.edu 37 16 24582927 24582927 + Missense_Mutation SNP A C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr16:24582927A>C uc002dmh.2 + 18 5580 c.4540A>C c.(4540-4542)AAA>CAA p.K1514Q RBBP6_uc002dmi.2_Missense_Mutation_p.K1480Q|RBBP6_uc010bxr.2_Missense_Mutation_p.K674Q|RBBP6_uc002dmk.2_Missense_Mutation_p.K1347Q NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1514 Interaction with p53 (By similarity). 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) ACAGAAAAATAAACCAAGGGA 0.368 RNF40 9810 broad.mit.edu 37 16 30774800 30774800 + Missense_Mutation SNP C A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr16:30774800C>A uc002dzq.2 + 4 485 c.362C>A c.(361-363)GCG>GAG p.A121E C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.A121E|RNF40_uc010cab.2_Missense_Mutation_p.A121E|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.A121E|RNF40_uc010vfb.1_Intron NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 121 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) CTGTCTTCAGCGCCTGAGGCA 0.562 ZNF23 7571 broad.mit.edu 37 16 71483233 71483233 + Missense_Mutation SNP C A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr16:71483233C>A uc002faf.2 - 6 1509 c.695G>T c.(694-696)AGC>ATC p.S232I ZNF23_uc002fad.2_Missense_Mutation_p.S174I|ZNF23_uc002fae.2_Missense_Mutation_p.S174I|ZNF23_uc010vmf.1_Missense_Mutation_p.S174I|ZNF23_uc002fag.2_Missense_Mutation_p.S174I|ZNF23_uc002fah.2_Missense_Mutation_p.S232I|ZNF23_uc002fai.2_Missense_Mutation_p.S271I NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 232 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) GTAGCTGAAGCTTTTCCCACA 0.448 SMARCD2 6603 broad.mit.edu 37 17 61912798 61912798 + Nonsense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr17:61912798G>A uc010deb.1 - 5 1014 c.697C>T c.(697-699)CGA>TGA p.R233* SMARCD2_uc010wpt.1_Nonsense_Mutation_p.R185*|SMARCD2_uc010dea.1_Nonsense_Mutation_p.R158*|SMARCD2_uc010dec.1_Nonsense_Mutation_p.R212* NM_001098426 NP_001091896 Q92925 SMRD2_HUMAN SWI/SNF-related matrix-associated 233 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity 0 CCTTCCACTCGGAGTTCCCAG 0.527 ABCA8 10351 broad.mit.edu 37 17 66928560 66928560 + Silent SNP A T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr17:66928560A>T uc002jhp.2 - 6 845 c.666T>A c.(664-666)ACT>ACA p.T222T ABCA8_uc002jhq.2_Silent_p.T222T|ABCA8_uc010wqq.1_Silent_p.T222T|ABCA8_uc010wqr.1_Silent_p.T161T|ABCA8_uc002jhr.2_Silent_p.T222T|ABCA8_uc002jhs.2_Silent_p.T222T|ABCA8_uc002jht.2_Silent_p.T222T NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 222 Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GGTACAAATCAGTTATAACTC 0.363 CD7 924 broad.mit.edu 37 17 80274786 80274786 + Missense_Mutation SNP C A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr17:80274786C>A uc002kel.1 - 2 263 c.154G>T c.(154-156)GGG>TGG p.G52W CD7_uc010din.2_Missense_Mutation_p.G52W|CD7_uc002kem.2_Missense_Mutation_p.R33L|CD7_uc010wvk.1_Missense_Mutation_p.G52W NM_006137 NP_006128 P09564 CD7_HUMAN CD7 antigen precursor 52 Ig-like.|Extracellular (Probable). immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity 0 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) CGCAGGCCCCCGCTGGTGGAG 0.647 MUC16 94025 broad.mit.edu 37 19 9015333 9015333 + Missense_Mutation SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr19:9015333C>T uc002mkp.2 - 30 38459 c.38255G>A c.(38254-38256)AGA>AAA p.R12752K MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12754 SEA 5.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). 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 CAAGGTCAGTCTGCAGCCAGA 0.517 CYP4F3 4051 broad.mit.edu 37 19 15758065 15758065 + Silent SNP G A A rs138865516 TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr19:15758065G>A uc002nbj.2 + 5 506 c.456G>A c.(454-456)ACG>ACA p.T152T CYP4F3_uc010xok.1_Silent_p.T152T|CYP4F3_uc010xol.1_Silent_p.T152T|CYP4F3_uc010xom.1_Silent_p.T3T|CYP4F3_uc002nbk.2_Silent_p.T152T|CYP4F3_uc010xon.1_5'Flank NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 152 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 GGATGCTGACGCCTGCCTTCC 0.552 ZNF493 284443 broad.mit.edu 37 19 21606980 21606980 + Missense_Mutation SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr19:21606980C>T uc002npx.2 + 2 1415 c.1135C>T c.(1135-1137)CAT>TAT p.H379Y ZNF493_uc002npw.2_Missense_Mutation_p.H507Y|ZNF493_uc002npy.2_Missense_Mutation_p.H379Y NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 379 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCTTAGTATACATAAAATAAT 0.328 ZSCAN5A 79149 broad.mit.edu 37 19 56733609 56733609 + Missense_Mutation SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr19:56733609C>T uc002qmq.2 - 5 992 c.826G>A c.(826-828)GTT>ATT p.V276I ZSCAN5A_uc010ygi.1_Missense_Mutation_p.V159I|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.V276I|ZSCAN5A_uc002qms.1_Missense_Mutation_p.V275I NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 276 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CTCTCCACAACGCAGGCAGAA 0.527 ALLC 55821 broad.mit.edu 37 2 3727521 3727521 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr2:3727521G>A uc010ewt.2 + 5 396 c.235G>A c.(235-237)GTT>ATT p.V79I NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 98 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) CGACGTGGACGTTTCTTACTT 0.532 HNSCC(21;0.051) TGFA 7039 broad.mit.edu 37 2 70680446 70680446 + Nonsense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr2:70680446G>A uc002sgs.3 - 5 585 c.379C>T c.(379-381)CGA>TGA p.R127* TGFA_uc010fdq.2_Nonsense_Mutation_p.R133*|TGFA_uc010fdr.2_Nonsense_Mutation_p.R132*|TGFA_uc002sgt.3_Nonsense_Mutation_p.R126*|TGFA_uc002sgu.2_Nonsense_Mutation_p.R126*|TGFA_uc002sgv.2_Nonsense_Mutation_p.R127*|TGFA_uc002sgw.2_Nonsense_Mutation_p.R126* NM_003236 NP_003227 P01135 TGFA_HUMAN transforming growth factor, alpha isoform 1 127 Cytoplasmic (Potential). activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis cell surface|extracellular space|integral to membrane|plasma membrane epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity prostate(1) 1 CAGTGTTTTCGGACCTGGCAG 0.632 CNTNAP5 129684 broad.mit.edu 37 2 125660583 125660583 + Silent SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr2:125660583G>A uc002tno.2 + 22 3922 c.3558G>A c.(3556-3558)GCG>GCA p.A1186A CNTNAP5_uc010flu.2_Silent_p.A1187A NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1186 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CCACTGTCGCGCCTGTGACTG 0.537 TTN 7273 broad.mit.edu 37 2 179438951 179438951 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr2:179438951G>A uc010zfg.1 - 275 64428 c.64204C>T c.(64204-64206)CGG>TGG p.R21402W uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R15097W|TTN_uc010zfi.1_Missense_Mutation_p.R15030W|TTN_uc010zfj.1_Missense_Mutation_p.R14905W NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22329 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R21402C(1) ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCAGCCACCGTCCATTAGGA 0.413 TTN 7273 broad.mit.edu 37 2 179569359 179569359 + Missense_Mutation SNP A C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr2:179569359A>C uc010zfg.1 - 102 26332 c.26108T>G c.(26107-26109)TTT>TGT p.F8703C TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F5364C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9630 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTATTTCAAATTTATCACT 0.368 ALPPL2 251 broad.mit.edu 37 2 233272379 233272379 + Missense_Mutation SNP T C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr2:233272379T>C uc002vss.3 + 4 429 c.376T>C c.(376-378)TTC>CTC p.F126L NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 126 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) CAAGGGCAACTTCCAGACCAT 0.582 GRIK1 2897 broad.mit.edu 37 21 31023612 31023612 + Splice_Site SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr21:31023612C>T uc002yno.1 - 6 1245 c.781_splice c.e6-1 p.D261_splice GRIK1_uc002ynn.2_Splice_Site_p.D261_splice|GRIK1_uc011acs.1_Splice_Site_p.D261_splice|GRIK1_uc011act.1_Splice_Site_p.D205_splice|GRIK1_uc010glq.1_Splice_Site_p.D119_splice|GRIK1_uc002ynr.2_Splice_Site_p.D261_splice NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CAAATAAGTCCTGCATAGTAT 0.348 CBS 875 broad.mit.edu 37 21 44478273 44478273 + Missense_Mutation SNP G C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr21:44478273G>C uc002zcu.2 - 15 1694 c.1449C>G c.(1447-1449)ATC>ATG p.I483M CBS_uc002zcs.1_Missense_Mutation_p.I378M|CBS_uc002zct.2_Missense_Mutation_p.I483M|CBS_uc002zcw.3_Missense_Mutation_p.I483M|CBS_uc002zcv.2_Missense_Mutation_p.I483M|CBS_uc002zcx.2_Missense_Mutation_p.I102M NM_000071 NP_000062 P35520 CBS_HUMAN cystathionine-beta-synthase 483 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding 0 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) ACTGCTTGTAGATGACTTTGC 0.567 CRELD1 78987 broad.mit.edu 37 3 9982660 9982660 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr3:9982660G>A uc003bug.2 + 6 705 c.587G>A c.(586-588)GGC>GAC p.G196D CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.G196D|CRELD1_uc003buh.2_Missense_Mutation_p.G196D|CRELD1_uc003bui.2_Missense_Mutation_p.G196D|CRELD1_uc003buj.2_RNA NM_001077415 NP_001070883 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 isoform 3 196 Extracellular (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding ovary(1) 1 GGCCAGTGTGGCCTTGGCTAC 0.642 PLS1 5357 broad.mit.edu 37 3 142383125 142383125 + Missense_Mutation SNP C G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr3:142383125C>G uc010huv.2 + 2 205 c.46C>G c.(46-48)CTA>GTA p.L16V PLS1_uc003euz.2_Missense_Mutation_p.L16V|PLS1_uc003eva.2_Missense_Mutation_p.L16V NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 16 EF-hand 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 GCTTGAAGAACTACAAGAGGC 0.333 GHSR 2693 broad.mit.edu 37 3 172165997 172165997 + Silent SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr3:172165997C>T uc003fib.1 - 1 207 c.207G>A c.(205-207)TCG>TCA p.S69S GHSR_uc011bpv.1_Silent_p.S69S NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 69 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CGCGGAAGCGCGACACCACCA 0.657 FRYL 285527 broad.mit.edu 37 4 48503638 48503638 + Splice_Site SNP A C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr4:48503638A>C uc003gyh.1 - 62 9197 c.8592_splice c.e62+1 p.E2864_splice FRYL_uc003gye.1_Splice_Site_p.E46_splice|FRYL_uc003gyf.1_Splice_Site_p.E254_splice|FRYL_uc003gyg.1_Splice_Site_p.E1554_splice NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CTGAATATTTACCTCTGCTTC 0.294 FRYL 285527 broad.mit.edu 37 4 48537846 48537846 + Splice_Site SNP T C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr4:48537846T>C uc003gyh.1 - 48 6999 c.6394_splice c.e48-1 p.V2132_splice FRYL_uc003gyg.1_Splice_Site_p.V828_splice|FRYL_uc003gyi.1_Splice_Site_p.V1020_splice|FRYL_uc003gyj.1_Splice_Site_p.V427_splice NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TGCACAAACCTAGAAAACAAA 0.318 NPY5R 4889 broad.mit.edu 37 4 164272650 164272650 + Missense_Mutation SNP A G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr4:164272650A>G uc003iqn.2 + 4 1407 c.1225A>G c.(1225-1227)ATT>GTT p.I409V NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 409 Helical; Name=7; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) GGTGTATTGCATTTGTCATTT 0.348 TRIML1 339976 broad.mit.edu 37 4 189065255 189065255 + Missense_Mutation SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr4:189065255C>T uc003izm.1 + 5 939 c.824C>T c.(823-825)ACG>ATG p.T275M TRIML1_uc003izn.1_Translation_Start_Site NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 275 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding p.T275T(1) ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TGCCGCATCACGGGAATGAAG 0.527 CTNND2 1501 broad.mit.edu 37 5 11082954 11082954 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr5:11082954G>A uc003jfa.1 - 16 2787 c.2642C>T c.(2641-2643)TCA>TTA p.S881L CTNND2_uc010itt.2_Missense_Mutation_p.S790L|CTNND2_uc011cmy.1_Missense_Mutation_p.S544L|CTNND2_uc011cmz.1_Missense_Mutation_p.S448L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S473L NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 881 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GATATATACTGACCACTGCAA 0.537 AP3B1 8546 broad.mit.edu 37 5 77311333 77311333 + Missense_Mutation SNP A G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr5:77311333A>G uc003kfj.2 - 26 3157 c.3032T>C c.(3031-3033)ATT>ACT p.I1011T NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 1011 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TGGTGCAGCAATGATTACAGC 0.383 Hermansky-Pudlak_syndrome GPR150 285601 broad.mit.edu 37 5 94956705 94956705 + Silent SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr5:94956705C>T uc003kle.1 + 1 726 c.726C>T c.(724-726)GTC>GTT p.V242V NM_199243 NP_954713 Q8NGU9 GP150_HUMAN G protein-coupled receptor 150 242 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051) all cancers(79;1.82e-16) CGGGCTTCGTCGCGCCTGTTA 0.682 PPIC 5480 broad.mit.edu 37 5 122359634 122359634 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr5:122359634G>A uc003kth.2 - 5 680 c.575C>T c.(574-576)TCG>TTG p.S192L NM_000943 NP_000934 P45877 PPIC_HUMAN peptidylprolyl isomerase C 192 PPIase cyclophilin-type. protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding ovary(1) 1 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) GTTGATGATCGAGCAGTTGGT 0.478 SLC12A2 6558 broad.mit.edu 37 5 127520072 127520072 + Missense_Mutation SNP A G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr5:127520072A>G uc003kus.2 + 25 3478 c.3314A>G c.(3313-3315)GAG>GGG p.E1105G SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.E1089G NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 1105 Cytoplasmic (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) ATAGCTTTTGAGGAAATCATT 0.289 PCDHA13 56136 broad.mit.edu 37 5 140263877 140263877 + Missense_Mutation SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr5:140263877C>T uc003lif.2 + 1 2024 c.2024C>T c.(2023-2025)GCG>GTG p.A675V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A675V|PCDHA13_uc003lid.2_Missense_Mutation_p.A675V NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 675 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A675V(1) ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGGCCAAGCGCCACAGGCT 0.662 PDGFRB 5159 broad.mit.edu 37 5 149503887 149503887 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr5:149503887G>A uc003lro.2 - 14 2418 c.1949C>T c.(1948-1950)TCG>TTG p.S650L PDGFRB_uc010jhd.2_Missense_Mutation_p.S489L NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 650 Cytoplasmic (Potential).|Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTTCAGCTCCGACATAAGGGC 0.637 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML GABRG2 2566 broad.mit.edu 37 5 161520964 161520964 + Missense_Mutation SNP A G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr5:161520964A>G uc003lyz.3 + 2 596 c.238A>G c.(238-240)AAA>GAA p.K80E GABRG2_uc010jjc.2_Missense_Mutation_p.K80E|GABRG2_uc003lyy.3_Missense_Mutation_p.K80E|GABRG2_uc011dej.1_Translation_Start_Site NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 80 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ATATGACAATAAACTTCGGCC 0.373 GRM6 2916 broad.mit.edu 37 5 178415969 178415969 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr5:178415969G>A uc003mjr.2 - 6 1500 c.1321C>T c.(1321-1323)CTT>TTT p.L441F GRM6_uc010jla.1_Missense_Mutation_p.L24F|GRM6_uc003mjs.1_Missense_Mutation_p.L61F NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 441 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) TACTGCAGAAGCATCCGCCCA 0.642 ZNF184 7738 broad.mit.edu 37 6 27420960 27420960 + Silent SNP T G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr6:27420960T>G uc003njj.2 - 5 1189 c.378A>C c.(376-378)ATA>ATC p.I126I ZNF184_uc010jqv.2_Silent_p.I126I|ZNF184_uc003nji.2_Silent_p.I126I NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTTTTTCCACTATTACCTCTG 0.413 OR2H1 26716 broad.mit.edu 37 6 29430405 29430405 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr6:29430405G>A uc003nmi.2 + 3 1302 c.859G>A c.(859-861)GTA>ATA p.V287I OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.1_Missense_Mutation_p.V209I NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAACCCTCTCGTATACACCCT 0.493 SUN3 256979 broad.mit.edu 37 7 48035742 48035742 + Silent SNP T A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr7:48035742T>A uc003tof.2 - 8 676 c.579A>T c.(577-579)GGA>GGT p.G193G SUN3_uc010kyq.2_Silent_p.G93G|SUN3_uc003tog.2_Silent_p.G193G|SUN3_uc011kcf.1_Silent_p.G181G NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 193 SUN. integral to membrane central_nervous_system(1) 1 TGATGGAGGCTCCTAAAATTA 0.313 ADAM22 53616 broad.mit.edu 37 7 87704970 87704970 + Missense_Mutation SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr7:87704970G>A uc003ujn.2 + 4 432 c.353G>A c.(352-354)AGA>AAA p.R118K ADAM22_uc003uji.1_Missense_Mutation_p.R117K|ADAM22_uc003ujj.1_Missense_Mutation_p.R118K|ADAM22_uc003ujk.1_Missense_Mutation_p.R118K|ADAM22_uc003ujl.1_Missense_Mutation_p.R118K|ADAM22_uc003ujm.2_Missense_Mutation_p.R118K|ADAM22_uc003ujo.2_Missense_Mutation_p.R118K|ADAM22_uc003ujp.1_Missense_Mutation_p.R170K NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 118 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TACATAGAGAGACACATTGAA 0.338 SAMD9L 219285 broad.mit.edu 37 7 92764397 92764397 + Missense_Mutation SNP G T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr7:92764397G>T uc003umh.1 - 5 2104 c.888C>A c.(886-888)AAC>AAA p.N296K SAMD9L_uc003umj.1_Missense_Mutation_p.N296K|SAMD9L_uc003umi.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfb.1_Missense_Mutation_p.N296K|SAMD9L_uc003umk.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfc.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfd.1_Missense_Mutation_p.N296K|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 296 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) ATGGTGTATTGTTCTGCAGAA 0.338 AZGP1 563 broad.mit.edu 37 7 99564649 99564649 + Missense_Mutation SNP C G G TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr7:99564649C>G uc003ush.2 - 4 918 c.874G>C c.(874-876)GTG>CTG p.V292L NM_001185 NP_001176 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc 292 Ig-like C1-type. antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CAGGGCACCACGAGGGGCTGG 0.637 TRPV6 55503 broad.mit.edu 37 7 142572331 142572331 + Frame_Shift_Del DEL G - - TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr7:142572331delG uc003wbx.1 - 11 1581 c.1365delC c.(1363-1365)TCCfs p.S455fs TRPV6_uc003wbw.1_Frame_Shift_Del_p.S241fs|TRPV6_uc010lou.1_Frame_Shift_Del_p.S326fs NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 455 Helical; (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CGAGTGCAAAGGACATGGGTA 0.592 ARHGEF10 9639 broad.mit.edu 37 8 1808147 1808147 + Missense_Mutation SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr8:1808147C>T uc003wpr.2 + 4 456 c.278C>T c.(277-279)TCT>TTT p.S93F ARHGEF10_uc003wpq.1_Missense_Mutation_p.S117F|ARHGEF10_uc003wps.2_Missense_Mutation_p.S93F|ARHGEF10_uc003wpt.2_Missense_Mutation_p.S7F|ARHGEF10_uc010lrd.1_Missense_Mutation_p.S7F|ARHGEF10_uc003wpu.2_Missense_Mutation_p.S7F NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 117 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) AACCCATATTCTGTCATCGAC 0.597 CHD7 55636 broad.mit.edu 37 8 61769309 61769309 + Silent SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr8:61769309G>A uc003xue.2 + 34 7947 c.7470G>A c.(7468-7470)TCG>TCA p.S2490S NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2490 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAGGCCTTTCGCGCACACCCA 0.483 C8orf34 116328 broad.mit.edu 37 8 69621313 69621313 + Silent SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr8:69621313C>T uc010lyz.2 + 9 1117 c.1068C>T c.(1066-1068)TTC>TTT p.F356F C8orf34_uc003xyb.2_Silent_p.F331F NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 356 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAGATTCATTCGGTAAGTTTT 0.343 KCNB2 9312 broad.mit.edu 37 8 73849588 73849588 + Silent SNP G A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr8:73849588G>A uc003xzb.2 + 3 2586 c.1998G>A c.(1996-1998)ACG>ACA p.T666T NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 666 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GGGATGGCACGCTGGAGTATG 0.567 CCNE2 9134 broad.mit.edu 37 8 95900206 95900206 + Missense_Mutation SNP A C C TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr8:95900206A>C uc003yhc.2 - 7 658 c.549T>G c.(547-549)AAT>AAG p.N183K CCNE2_uc003yhd.2_Missense_Mutation_p.N183K NM_057749 NP_477097 O96020 CCNE2_HUMAN cyclin E2 183 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding 0 Breast(36;8.75e-07) GTTGAAGCATATTTTTATTTA 0.284 ENPP2 5168 broad.mit.edu 37 8 120569830 120569830 + Silent SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr8:120569830C>T uc003yot.1 - 25 2609 c.2523G>A c.(2521-2523)AAG>AAA p.K841K ENPP2_uc011lic.1_Silent_p.K379K|ENPP2_uc003yor.1_Silent_p.K476K|ENPP2_uc003yos.1_Silent_p.K893K|ENPP2_uc010mdd.1_Silent_p.K866K NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 841 Required for secretion (By similarity). cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGCGGCTGGTCTTTCGGAAGA 0.468 COL14A1 7373 broad.mit.edu 37 8 121326187 121326187 + Missense_Mutation SNP G A A rs142082215 TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr8:121326187G>A uc003yox.2 + 38 4737 c.4472G>A c.(4471-4473)CGG>CAG p.R1491Q COL14A1_uc003yoz.2_Missense_Mutation_p.R456Q NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1491 Triple-helical region 1 (COL2). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GATGGCCCTCGGGGTGAAATT 0.468 COL22A1 169044 broad.mit.edu 37 8 139606377 139606377 + Missense_Mutation SNP C A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chr8:139606377C>A uc003yvd.2 - 63 4945 c.4498G>T c.(4498-4500)GGG>TGG p.G1500W COL22A1_uc011ljo.1_Missense_Mutation_p.G780W NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1500 Pro-rich.|Gly-rich.|Collagen-like 15. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTGGGGGCCCAGGTCTGCCT 0.632 HNSCC(7;0.00092) BMP15 9210 broad.mit.edu 37 X 50659431 50659431 + Missense_Mutation SNP C A A TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chrX:50659431C>A uc011mnw.1 + 2 1003 c.1003C>A c.(1003-1005)CCC>ACC p.P335T NM_005448 NP_005439 O95972 BMP15_HUMAN bone morphogenetic protein 15 precursor 335 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity ovary(2) 2 Ovarian(276;0.236) TCTCAATTCCCCCAATCACGC 0.502 BCORL1 63035 broad.mit.edu 37 X 129162640 129162640 + Missense_Mutation SNP C T T TCGA-06-0686-01A-01W-0348-08 TCGA-06-0686-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 4af220fa-c00b-40b1-ae82-b2c256a3d3fe ef3a66de-f4db-4ef4-8737-bbd7ae26cb67 g.chrX:129162640C>T uc004evb.1 + 8 4223 c.4109C>T c.(4108-4110)TCC>TTC p.S1370F BCORL1_uc010nrd.1_Missense_Mutation_p.S1142F|BCORL1_uc004evc.1_Missense_Mutation_p.S132F NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1370 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 AAGACTTCCTCCTCCCAAAGT 0.483 OREG0019921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)