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 RPL22 6146 broad.mit.edu 37 1 6257784 6257785 + Frame_Shift_Ins INS - T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:6257784_6257785insT uc001amd.2 - 2 90_91 c.44_45insA c.(43-45)AAGfs p.K15fs RPL22_uc001ame.2_Frame_Shift_Ins_p.K15fs NM_000983 NP_000974 P35268 RL22_HUMAN ribosomal protein L22 proprotein 15 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome 0 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GAACTTGCTTCTTTTTTTTGCC 0.401 T RUNX1 AML|CML ARHGEF10L 55160 broad.mit.edu 37 1 17990973 17990973 + Silent SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:17990973C>T uc001ban.2 + 26 3051 c.2892C>T c.(2890-2892)CCC>CCT p.P964P ARHGEF10L_uc009vpe.1_Silent_p.P925P|ARHGEF10L_uc001bao.2_Silent_p.P925P|ARHGEF10L_uc001bap.2_Silent_p.P920P|ARHGEF10L_uc001baq.2_Silent_p.P725P|ARHGEF10L_uc010ocs.1_Silent_p.P737P|ARHGEF10L_uc001bar.2_Silent_p.P667P|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 964 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AGAGCCCTCCCGTGTGCCTGA 0.692 NBPF10 100132406 broad.mit.edu 37 1 145311839 145311839 + Missense_Mutation SNP A T T rs58277049 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:145311839A>T uc001end.3 + 14 1942 c.1907A>T c.(1906-1908)CAG>CTG p.Q636L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_5'UTR|NBPF10_uc010oyl.1_5'UTR|NBPF10_uc010oyj.1_5'UTR NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAGGACTCACAGGATAGATGT 0.473 FLG 2312 broad.mit.edu 37 1 152276886 152276886 + Silent SNP G A A rs144901359 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:152276886G>A uc001ezu.1 - 3 10512 c.10476C>T c.(10474-10476)GAC>GAT p.D3492D NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3492 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.D3492Y(1) ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGATTGTTCGTCATTACGAG 0.567 Ichthyosis LCE2C 353140 broad.mit.edu 37 1 152648777 152648777 + Missense_Mutation SNP C A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:152648777C>A uc001fah.2 + 2 341 c.286C>A c.(286-288)CCT>ACT p.P96T NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 96 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGAGTGAACCTTCTGGGGG 0.662 NUP210L 91181 broad.mit.edu 37 1 154062058 154062058 + Nonsense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:154062058G>A uc001fdw.2 - 16 2272 c.2200C>T c.(2200-2202)CGA>TGA p.R734* NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Nonsense_Mutation_p.R734* NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 734 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTTCCAATTCGGAATGTGAGA 0.423 ARHGAP30 257106 broad.mit.edu 37 1 161023102 161023102 + Missense_Mutation SNP C T T rs149577194 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:161023102C>T uc001fxl.2 - 6 956 c.610G>A c.(610-612)GTG>ATG p.V204M ARHGAP30_uc001fxk.2_Missense_Mutation_p.V204M|ARHGAP30_uc001fxm.2_Missense_Mutation_p.V50M|ARHGAP30_uc009wtx.2_Translation_Start_Site|ARHGAP30_uc001fxn.1_Missense_Mutation_p.V50M NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 204 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ATGAACTCCACGACGATGGAT 0.562 NLRP3 114548 broad.mit.edu 37 1 247607348 247607348 + Missense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:247607348C>T uc001icr.2 + 9 2882 c.2744C>T c.(2743-2745)ACG>ATG p.T915M NLRP3_uc001ics.2_Missense_Mutation_p.T858M|NLRP3_uc001icu.2_Missense_Mutation_p.T915M|NLRP3_uc001icw.2_Missense_Mutation_p.T858M|NLRP3_uc001icv.2_Missense_Mutation_p.T801M|NLRP3_uc010pyw.1_Missense_Mutation_p.T893M NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 915 LRR 7. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CAGAATCTCACGCACCTTTAC 0.512 PTEN 5728 broad.mit.edu 37 10 89720738 89720738 + Frame_Shift_Del DEL G - - TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr10:89720738delG uc001kfb.2 + 9 1920 c.889delG c.(889-891)GATfs p.D297fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 297 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.W274_F341del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AAGTCTATGTGATCAAGAAAT 0.318 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) OR8K3 219473 broad.mit.edu 37 11 56086620 56086620 + Missense_Mutation SNP G T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr11:56086620G>T uc010rjf.1 + 1 838 c.838G>T c.(838-840)GTT>TTT p.V280F NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) TTACACCCTGGTTATCCCCAT 0.378 OR10W1 81341 broad.mit.edu 37 11 58034677 58034677 + Missense_Mutation SNP C A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr11:58034677C>A uc001nmq.1 - 1 1056 c.654G>T c.(652-654)AAG>AAT p.K218N NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 218 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) CCGAGTGGATCTTGAGCAGAG 0.572 OR4D5 219875 broad.mit.edu 37 11 123811000 123811000 + Missense_Mutation SNP G A A rs142766960 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr11:123811000G>A uc001pzk.1 + 1 677 c.677G>A c.(676-678)CGA>CAA p.R226Q NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GTCATGCTCCGAAGCCACTCA 0.507 LRIG3 121227 broad.mit.edu 37 12 59272793 59272793 + Silent SNP G T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr12:59272793G>T uc001sqr.2 - 14 2142 c.1896C>A c.(1894-1896)CCC>CCA p.P632P LRIG3_uc009zqh.2_Silent_p.P572P|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 632 Ig-like C2-type 2. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) AGGCTATCTGGGGGGCTGGGT 0.597 NAV3 89795 broad.mit.edu 37 12 78582438 78582438 + Missense_Mutation SNP A C C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr12:78582438A>C uc001syp.2 + 33 6109 c.5936A>C c.(5935-5937)GAC>GCC p.D1979A NAV3_uc001syo.2_Missense_Mutation_p.D1957A|NAV3_uc010sub.1_Missense_Mutation_p.D1436A|NAV3_uc009zsf.2_Missense_Mutation_p.D788A NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1979 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTGAGCTCTGACTGCATTGCT 0.388 HNSCC(70;0.22) PLEKHG7 440107 broad.mit.edu 37 12 93148040 93148040 + Missense_Mutation SNP C T T rs115752910 by1000genomes TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr12:93148040C>T uc001tcj.2 + 6 720 c.490C>T c.(490-492)CGG>TGG p.R164W NM_001004330 NP_001004330 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G 164 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(1) 1 AAAGTCCATCCGTAAGTCCCT 0.438 STAB2 55576 broad.mit.edu 37 12 104014256 104014256 + Silent SNP T G G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr12:104014256T>G uc001tjw.2 + 4 528 c.342T>G c.(340-342)GGT>GGG p.G114G NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 114 Extracellular (Potential).|EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AGTGCCCAGGTGGAGCGGGGT 0.493 GPR133 283383 broad.mit.edu 37 12 131622720 131622720 + Silent SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr12:131622720G>A uc001uit.3 + 24 3034 c.2475G>A c.(2473-2475)TCG>TCA p.S825S GPR133_uc010tbm.1_Silent_p.S857S|GPR133_uc009zyo.2_Silent_p.S107S|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 825 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) AGGTCTGGTCGCTCACGAGCA 0.597 ERCC5 2073 broad.mit.edu 37 13 103474461 103474462 + Frame_Shift_Ins INS - A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr13:103474461_103474462insA uc001vpu.1 + 5 975_976 c.853_854insA c.(853-855)TATfs p.Y285fs BIVM_uc001vps.2_Frame_Shift_Ins_p.Y285fs|BIVM_uc010agc.2_Frame_Shift_Ins_p.Y56fs|BIVM_uc001vpv.2_Frame_Shift_Ins_p.Y56fs NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein Error:Variant_position_missing_in_P28715_after_alignment negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGATGCTCTTATGTTCTATAT 0.297 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum FUT8 2530 broad.mit.edu 37 14 66028372 66028372 + Nonsense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr14:66028372C>T uc001xin.2 + 3 1288 c.91C>T c.(91-93)CGA>TGA p.R31* FUT8_uc001xio.2_Nonsense_Mutation_p.R31*|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Nonsense_Mutation_p.R31*|FUT8_uc001xiq.2_Intron NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 31 Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TCACTTGGTACGAGATAATGA 0.458 AK7 122481 broad.mit.edu 37 14 96917806 96917806 + Missense_Mutation SNP T C C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr14:96917806T>C uc001yfn.2 + 10 1041 c.997T>C c.(997-999)TTT>CTT p.F333L NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 333 Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGAAGCGCTCTTTGTGAAGGA 0.368 GOLGA8C 729786 broad.mit.edu 37 15 20776109 20776109 + Missense_Mutation SNP T A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr15:20776109T>A uc010tzc.1 + 13 1620 c.605T>A c.(604-606)CTG>CAG p.L202Q NM_001012423 NP_001012423 golgi autoantigen, golgin subfamily a, 8E skin(1) 1 TAGGAGCGCCTGGAAGCTGCC 0.637 CREBBP 1387 broad.mit.edu 37 16 3842056 3842056 + Nonsense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr16:3842056C>T uc002cvv.2 - 5 1460 c.1256G>A c.(1255-1257)TGG>TAG p.W419* CREBBP_uc002cvw.2_Intron NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 419 TAZ-type 1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCAGTTCTTCCAATGAGAGAT 0.428 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome CIITA 4261 broad.mit.edu 37 16 11000852 11000852 + Silent SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr16:11000852C>T uc002dai.3 + 11 1636 c.1503C>T c.(1501-1503)TTC>TTT p.F501F CIITA_uc002daj.3_Silent_p.F502F|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.F501F|CIITA_uc002dah.2_Silent_p.F453F|CIITA_uc010bup.1_Intron NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 501 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 TAGACGGCTTCGAGGAGCTGG 0.647 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| PRKCB 5579 broad.mit.edu 37 16 24166139 24166139 + Silent SNP G A A rs141827066 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr16:24166139G>A uc002dmd.2 + 10 1397 c.1200G>A c.(1198-1200)CCG>CCA p.P400P PRKCB_uc002dme.2_Silent_p.P400P NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 400 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding p.P400P(1) ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) CTGGGAAGCCGCCCTTCCTGA 0.567 LCMT1 51451 broad.mit.edu 37 16 25143735 25143735 + Missense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr16:25143735G>A uc002dnx.1 + 3 376 c.218G>A c.(217-219)CGA>CAA p.R73Q LCMT1_uc002dny.1_Missense_Mutation_p.R73Q|LCMT1_uc002dnz.1_5'UTR|LCMT1_uc002doa.1_5'UTR NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 isoform a 73 S-adenosyl-L-methionine. protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity 0 GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) TATTTTGCTCGAGTCCATGGT 0.488 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T G G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr16:32890622T>G uc002edh.1 - 5 440 c.264A>C c.(262-264)AAA>AAC p.K88N SLC6A10P_uc002edi.1_RNA RecName: Full=Transporter; 0 CGTTGGTGTTTTTGTAGACCA 0.512 MYH2 4620 broad.mit.edu 37 17 10427836 10427836 + Missense_Mutation SNP C T T rs147813930 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr17:10427836C>T uc010coi.2 - 35 5250 c.5122G>A c.(5122-5124)GCA>ACA p.A1708T uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1708T|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1708 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TCCTGTTCTGCGATTTTTCTG 0.547 KRT16 3868 broad.mit.edu 37 17 39767641 39767641 + Missense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr17:39767641C>T uc002hxg.3 - 3 866 c.727G>A c.(727-729)GGC>AGC p.G243S JUP_uc010wfs.1_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN keratin 16 243 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton skin(1) 1 Breast(137;0.000307) TCCTTCAGGCCTTCGATCTGC 0.642 KIF2B 84643 broad.mit.edu 37 17 51900949 51900949 + Silent SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr17:51900949C>T uc002iua.2 + 1 711 c.555C>T c.(553-555)TAC>TAT p.Y185Y uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 185 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ACCCCAACTACGAAATCATGC 0.562 ANKFN1 162282 broad.mit.edu 37 17 54452045 54452045 + Missense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr17:54452045G>A uc002iun.1 + 7 924 c.889G>A c.(889-891)GTC>ATC p.V297I NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 297 Fibronectin type-III. large_intestine(1)|ovary(1) 2 GCCTCTTAGCGTCAATGCAGC 0.458 CCDC46 201134 broad.mit.edu 37 17 63848135 63848135 + Silent SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr17:63848135C>T uc002jfl.2 - 21 2400 c.2181G>A c.(2179-2181)GAG>GAA p.E727E CCDC46_uc010deo.2_Silent_p.E469E|CCDC46_uc002jfm.2_Silent_p.E727E|CCDC46_uc010dep.2_Silent_p.E685E NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 727 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) GAACCTGGGCCTCCATGTCGG 0.284 MC5R 4161 broad.mit.edu 37 18 13826256 13826256 + Silent SNP C T T rs45575841 byFrequency TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr18:13826256C>T uc010xaf.1 + 1 492 c.492C>T c.(490-492)GCC>GCT p.A164A NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 164 Helical; Name=4; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 CCATCATCGCCGGCATCTGGG 0.572 LASS4 79603 broad.mit.edu 37 19 8320541 8320541 + Silent SNP C G G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr19:8320541C>G uc002mjg.2 + 5 662 c.342C>G c.(340-342)ACC>ACG p.T114T LASS4_uc002mjh.2_Silent_p.T63T|LASS4_uc002mji.2_5'UTR|LASS4_uc010dvz.2_Silent_p.T114T NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 114 Homeobox. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 TGCAGCAGACCCAGCGATGGT 0.652 CYP4F2 8529 broad.mit.edu 37 19 15990424 15990424 + Missense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr19:15990424G>A uc002nbs.1 - 11 1354 c.1304C>T c.(1303-1305)CCG>CTG p.P435L CYP4F2_uc010xot.1_Missense_Mutation_p.P286L NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 435 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 CTCAGGGTCCGGCCACACAGC 0.567 TAF1B 9014 broad.mit.edu 37 2 9994457 9994457 + Silent SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:9994457C>T uc002qzz.2 + 5 406 c.306C>T c.(304-306)AAC>AAT p.N102N TAF1B_uc010exc.2_Silent_p.N102N|TAF1B_uc002qzy.3_Silent_p.N102N|TAF1B_uc010yja.1_Translation_Start_Site|TAF1B_uc010exd.2_Translation_Start_Site NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 102 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CACCTTAGAACGATGTTTTAC 0.408 OTOF 9381 broad.mit.edu 37 2 26705441 26705441 + Missense_Mutation SNP T C C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:26705441T>C uc002rhk.2 - 14 1539 c.1412A>G c.(1411-1413)AAG>AGG p.K471R NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 471 Cytoplasmic (Potential).|C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATAGCTGCTCTTCTGCACTGA 0.448 BIRC6 57448 broad.mit.edu 37 2 32695356 32695356 + Missense_Mutation SNP T A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:32695356T>A uc010ezu.2 + 31 6602 c.6468T>A c.(6466-6468)CAT>CAA p.H2156Q NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2156 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TACCCATGCATAGGAGGACAG 0.318 TET3 200424 broad.mit.edu 37 2 74275488 74275489 + Frame_Shift_Del DEL AC - - TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:74275488_74275489delAC uc002skb.3 + 1 2039_2040 c.2039_2040delAC c.(2038-2040)GACfs p.D680fs TET3_uc010fez.1_Frame_Shift_Del_p.D680fs NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 680 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGTCTGCTGGACACACCTGCCA 0.604 POTEE 445582 broad.mit.edu 37 2 132021710 132021710 + Silent SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:132021710C>T uc002tsn.2 + 15 2734 c.2682C>T c.(2680-2682)ACC>ACT p.T894T PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T494T|POTEE_uc002tsl.2_Silent_p.T476T|POTEE_uc010fmy.1_Silent_p.T358T NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 894 Actin-like. ATP binding 0 AGATCCTCACCGAGCGTGGCT 0.587 LOC401010 401010 broad.mit.edu 37 2 132201557 132201557 + Missense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:132201557C>T uc002tst.2 - 1 911 c.445G>A c.(445-447)GTA>ATA p.V149I NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 GTGCTCCATACGACCACCATT 0.602 MYO1B 4430 broad.mit.edu 37 2 192275792 192275792 + Missense_Mutation SNP T C C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:192275792T>C uc010fsg.2 + 27 3022 c.2767T>C c.(2767-2769)TGT>CGT p.C923R MYO1B_uc002usq.2_Missense_Mutation_p.C865R|MYO1B_uc002usr.2_Missense_Mutation_p.C923R|MYO1B_uc002usu.2_Missense_Mutation_p.C168R|MYO1B_uc002usv.2_Missense_Mutation_p.C39R NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 923 myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TATCTCACAGTGTAAAAAATA 0.308 MATN4 8785 broad.mit.edu 37 20 43929967 43929967 + Missense_Mutation SNP A G G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr20:43929967A>G uc002xnn.2 - 4 947 c.760T>C c.(760-762)TGC>CGC p.C254R MATN4_uc002xno.2_Intron|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.C202R|MATN4_uc002xnr.1_Missense_Mutation_p.C254R NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 295 extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) TCACCCCTGCAGCTCCTCTGG 0.587 OREG0025977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OPRL1 4987 broad.mit.edu 37 20 62724089 62724089 + Missense_Mutation SNP C T T rs148535906 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr20:62724089C>T uc002yic.2 + 3 418 c.16C>T c.(16-18)CCC>TCC p.P6S OPRL1_uc002yid.2_Missense_Mutation_p.P6S|OPRL1_uc002yif.3_Missense_Mutation_p.P6S NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 6 Extracellular (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GCCCCTCTTCCCCGCGCCGTT 0.632 KCNJ15 3772 broad.mit.edu 37 21 39671533 39671533 + Missense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr21:39671533C>T uc002ywv.2 + 4 652 c.350C>T c.(349-351)GCG>GTG p.A117V KCNJ15_uc002yww.2_Missense_Mutation_p.A117V|KCNJ15_uc002ywx.2_Missense_Mutation_p.A117V NM_002243 NP_002234 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel J15 117 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 6 CTCACTGGGGCGTTTCTCTTT 0.493 UMODL1 89766 broad.mit.edu 37 21 43522316 43522316 + Missense_Mutation SNP C A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr21:43522316C>A uc002zaf.1 + 8 1227 c.1227C>A c.(1225-1227)CAC>CAA p.H409Q UMODL1_uc002zad.1_Missense_Mutation_p.H337Q|UMODL1_uc002zae.1_Missense_Mutation_p.H337Q|UMODL1_uc002zag.1_Missense_Mutation_p.H409Q|UMODL1_uc010gow.1_Missense_Mutation_p.H201Q|UMODL1_uc002zai.1_Missense_Mutation_p.H60Q|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.H60Q|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.H154Q|C21orf128_uc002zak.2_3'UTR NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 409 Extracellular (Potential).|SEA 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TTGTAAACCACAACCTGACGG 0.428 FGD5 152273 broad.mit.edu 37 3 14862751 14862751 + Missense_Mutation SNP T A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr3:14862751T>A uc003bzc.2 + 1 2283 c.2173T>A c.(2173-2175)TAT>AAT p.Y725N FGD5_uc011avk.1_Missense_Mutation_p.Y725N NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 725 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CCTCATCTTTTATAGAGATGG 0.577 DAG1 1605 broad.mit.edu 37 3 49568839 49568839 + Missense_Mutation SNP A G G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr3:49568839A>G uc003cxc.3 + 3 1313 c.895A>G c.(895-897)ATC>GTC p.I299V NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 299 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GGGTTGGCACATCGCCAATAA 0.597 CASR 846 broad.mit.edu 37 3 121980530 121980530 + Silent SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr3:121980530C>T uc003eev.3 + 4 1020 c.648C>T c.(646-648)GAC>GAT p.D216D CASR_uc003eew.3_Silent_p.D216D NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 216 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CAGCTGATGACGACTATGGGC 0.537 ADCY5 111 broad.mit.edu 37 3 123038564 123038564 + Missense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr3:123038564C>T uc003egh.1 - 10 2213 c.2213G>A c.(2212-2214)CGC>CAC p.R738H ADCY5_uc003egg.1_Missense_Mutation_p.R371H|ADCY5_uc003egi.1_Missense_Mutation_p.R297H NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 738 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) GAGGAACTTGCGGACGTGCTC 0.587 PIGZ 80235 broad.mit.edu 37 3 196675037 196675037 + Missense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr3:196675037C>T uc003fxh.2 - 3 878 c.731G>A c.(730-732)CGT>CAT p.R244H NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 244 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity ovary(3) 3 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) TGTGGCTCCACGAGTGCCCCA 0.637 ZNF718 255403 broad.mit.edu 37 4 155414 155414 + Silent SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr4:155414C>T uc003fzt.3 + 8 1072 c.939C>T c.(937-939)TGC>TGT p.C313C ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.A93V NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 313 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CCTTCTCATGCGAAGAATGTG 0.373 RBM47 54502 broad.mit.edu 37 4 40440359 40440359 + Silent SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr4:40440359G>A uc003gvc.2 - 4 1262 c.552C>T c.(550-552)TAC>TAT p.Y184Y RBM47_uc003gvd.2_Silent_p.Y184Y|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.Y146Y|RBM47_uc003gvg.1_Silent_p.Y184Y NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 184 RRM 2. nucleus nucleotide binding|RNA binding breast(3) 3 CCGCGCTGGCGTAGACGATCA 0.647 ALB 213 broad.mit.edu 37 4 74283995 74283995 + Missense_Mutation SNP T A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr4:74283995T>A uc003hgs.3 + 12 1692 c.1619T>A c.(1618-1620)CTT>CAT p.L540H ALB_uc003hgw.3_Missense_Mutation_p.L348H|ALB_uc011cbe.1_Missense_Mutation_p.L219H|ALB_uc003hgt.3_Missense_Mutation_p.L540H|ALB_uc010iii.2_Missense_Mutation_p.L425H|ALB_uc003hgu.3_Missense_Mutation_p.L390H|ALB_uc003hgv.3_Missense_Mutation_p.L219H|ALB_uc011cbf.1_Missense_Mutation_p.L430H|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.L219H NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 540 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) ATATGCACACTTTCTGAGAAG 0.403 PPEF2 5470 broad.mit.edu 37 4 76793227 76793227 + Missense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr4:76793227C>T uc003hix.2 - 13 1957 c.1600G>A c.(1600-1602)GTG>ATG p.V534M PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.V534M NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 534 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGATACTGCACAATATGTGGG 0.428 ADAMTS12 81792 broad.mit.edu 37 5 33596125 33596125 + Silent SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr5:33596125G>A uc003jia.1 - 17 2731 c.2568C>T c.(2566-2568)CGC>CGT p.R856R ADAMTS12_uc010iuq.1_Silent_p.R771R NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 856 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCACCATCCCGCGGCCCTTCT 0.512 HNSCC(64;0.19) PCDHA10 56139 broad.mit.edu 37 5 140237259 140237259 + Silent SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr5:140237259G>A uc003lhx.2 + 1 1626 c.1626G>A c.(1624-1626)CCG>CCA p.P542P 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_uc011dad.1_Silent_p.P542P NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 542 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGCGTGCCGCCTCTGGGCA 0.697 PCDHB5 26167 broad.mit.edu 37 5 140517047 140517052 + In_Frame_Del DEL GGCCCA - - TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr5:140517047_140517052delGGCCCA uc003liq.2 + 1 2248_2253 c.2031_2036delGGCCCA c.(2029-2037)CCGGCCCAG>CCG p.AQ680del NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 680_681 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCGGCCCCGGCCCAGGCCCAGGCC 0.694 RIPK1 8737 broad.mit.edu 37 6 3104537 3104537 + Missense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr6:3104537C>T uc010jni.2 + 8 1226 c.994C>T c.(994-996)CGG>TGG p.R332W RIPK1_uc003muv.3_Missense_Mutation_p.R169W|RIPK1_uc003muw.3_Missense_Mutation_p.R267W|RIPK1_uc011dhs.1_Missense_Mutation_p.R286W|RIPK1_uc003mux.2_Missense_Mutation_p.R332W NM_003804 NP_003795 Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine 332 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity large_intestine(3)|lung(1)|skin(1) 5 Ovarian(93;0.0386) all_hematologic(90;0.0895) ACCTTCAAGCCGGTCAAATTC 0.348 OR2H1 26716 broad.mit.edu 37 6 29430405 29430405 + Missense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 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 GABBR1 2550 broad.mit.edu 37 6 29599228 29599228 + Silent SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr6:29599228G>A uc003nmt.3 - 3 570 c.234C>T c.(232-234)GTC>GTT p.V78V GABBR1_uc003nmu.3_Silent_p.V78V|GABBR1_uc011dlr.1_5'UTR|GABBR1_uc011dls.1_Silent_p.V78V NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 78 Sushi 1.|Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) GGCACTTGCGGACCTTGGGCC 0.602 HLA-DQB2 3120 broad.mit.edu 37 6 32729588 32729588 + Silent SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr6:32729588G>A uc003oby.3 - 2 296 c.213C>T c.(211-213)GAC>GAT p.D71D HLA-DQB2_uc003obz.2_Silent_p.D71D NR_003937 Q5SR06 Q5SR06_HUMAN SubName: Full=Major histocompatibility complex, class II, DQ beta 2; SubName: Full=Putative uncharacterized protein ENSP00000372579; 71 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex 0 ACTCCCCAACGTCGCTGTCGA 0.607 TNRC18 84629 broad.mit.edu 37 7 5417608 5417608 + Missense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:5417608G>A uc003soi.3 - 6 2549 c.2200C>T c.(2200-2202)CGG>TGG p.R734W NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 734 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CGTTCCTCCCGGTGTCTGGCC 0.682 RAMP3 10268 broad.mit.edu 37 7 45216987 45216987 + Silent SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:45216987C>T uc003tnb.2 + 2 199 c.138C>T c.(136-138)GAC>GAT p.D46D RAMP3_uc003tnc.2_Silent_p.D14D NM_005856 NP_005847 O60896 RAMP3_HUMAN receptor activity modifying protein 3 precursor 46 Extracellular (Potential). intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity 0 Pramlintide(DB01278) CTTTCGCAGACATGATGGGCA 0.607 EGFR 1956 broad.mit.edu 37 7 55221821 55221821 + Missense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:55221821G>A uc003tqk.2 + 7 1111 c.865G>A c.(865-867)GCC>ACC p.A289T EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGCTTTGGTGCCACCTGCGT 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55249022 55249022 + Missense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:55249022G>A uc003tqk.2 + 20 2566 c.2320G>A c.(2320-2322)GTG>ATG p.V774M EGFR_uc010kzg.1_Missense_Mutation_p.V729M|EGFR_uc011kco.1_Missense_Mutation_p.V721M|uc003tqo.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 774 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.H773_V774insNPH(12)|p.V774_C775insHV(4)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.V774M(3)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.H773_V774>LM(1)|p.V774L(1)|p.H773_V774insGNPH(1)|p.V774del(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAACCCCCACGTGTGCCGCCT 0.632 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PCLO 27445 broad.mit.edu 37 7 82582186 82582186 + Frame_Shift_Del DEL A - - TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:82582186delA uc003uhx.2 - 5 8372 c.8083delT c.(8083-8085)TCCfs p.S2695fs PCLO_uc003uhv.2_Frame_Shift_Del_p.S2695fs|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2626 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATTGTTATGGAAATGCTGCTG 0.413 BAIAP2L1 55971 broad.mit.edu 37 7 97935824 97935824 + Missense_Mutation SNP C G G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:97935824C>G uc003upj.2 - 11 1431 c.1168G>C c.(1168-1170)GGT>CGT p.G390R uc003upk.1_5'Flank NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 390 SH3. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) GGGAACCAACCCCTCCTACCG 0.572 MCM7 4176 broad.mit.edu 37 7 99694927 99694927 + Missense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:99694927G>A uc003usw.1 - 10 1708 c.1198C>T c.(1198-1200)CGC>TGC p.R400C MCM7_uc003usv.1_Missense_Mutation_p.R224C|MCM7_uc003usx.1_Missense_Mutation_p.R224C NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 400 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TACTTACTGCGAGGCGCCAGT 0.473 ASZ1 136991 broad.mit.edu 37 7 117020042 117020042 + Silent SNP T C C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:117020042T>C uc003vjb.2 - 10 1068 c.1005A>G c.(1003-1005)GTA>GTG p.V335V ASZ1_uc011kno.1_Silent_p.V335V|ASZ1_uc011knp.1_Silent_p.V127V NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 335 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) GTATCTCTTCTACCTGTAGTT 0.308 HIPK2 28996 broad.mit.edu 37 7 139416214 139416214 + Missense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:139416214C>T uc003vvf.3 - 2 794 c.620G>A c.(619-621)CGA>CAA p.R207Q HIPK2_uc003vvd.3_Missense_Mutation_p.R207Q NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 207 ATP (Probable).|Protein kinase.|Transcriptional corepression (By similarity).|Interaction with DAXX. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) AAACGTCCCTCGGCCCAAGAA 0.552 CLCN1 1180 broad.mit.edu 37 7 143048733 143048733 + Missense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:143048733G>A uc003wcr.1 + 23 2729 c.2642G>A c.(2641-2643)CGC>CAC p.R881H CLCN1_uc011ktc.1_Missense_Mutation_p.R493H NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 881 Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) GTGCAGCTCCGCCCTCCCCTT 0.483 KCNB2 9312 broad.mit.edu 37 8 73848914 73848914 + Missense_Mutation SNP C T T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr8:73848914C>T uc003xzb.2 + 3 1912 c.1324C>T c.(1324-1326)CGG>TGG p.R442W NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 442 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) GGCTCTTGAGCGGGCCAAAAG 0.443 KIFC2 90990 broad.mit.edu 37 8 145693119 145693119 + Missense_Mutation SNP T C C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr8:145693119T>C uc003zcz.2 + 6 703 c.638T>C c.(637-639)CTG>CCG p.L213P CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 213 Potential.|Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) AAGCAGCAGCTGGAACAGCAG 0.642 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BNC2 54796 broad.mit.edu 37 9 16419304 16419304 + Missense_Mutation SNP C T T rs143124811 byFrequency TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr9:16419304C>T uc003zml.2 - 7 3123 c.2983G>A c.(2983-2985)GGG>AGG p.G995R BNC2_uc011lmw.1_Missense_Mutation_p.G900R|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.G782R NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 995 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) TCACTCGCCCCGTCAATGTCA 0.592 TAF1L 138474 broad.mit.edu 37 9 32631824 32631824 + Missense_Mutation SNP G A A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr9:32631824G>A uc003zrg.1 - 1 3844 c.3754C>T c.(3754-3756)CGG>TGG p.R1252W uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1252 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CGCTTAAGCCGCCTCAGTTGC 0.448 STAG2 10735 broad.mit.edu 37 X 123205046 123205047 + Frame_Shift_Del DEL TA - - TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chrX:123205046_123205047delTA uc004etz.3 + 24 2745_2746 c.2406_2407delTA c.(2404-2409)ATTATGfs p.I802fs STAG2_uc004eua.2_Frame_Shift_Del_p.I802fs|STAG2_uc004eub.2_Frame_Shift_Del_p.I802fs|STAG2_uc004euc.2_Frame_Shift_Del_p.I802fs|STAG2_uc004eud.2_Frame_Shift_Del_p.I802fs|STAG2_uc004eue.2_Frame_Shift_Del_p.I802fs NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 802_803 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GCCATCAGATTATGTCAGGAGG 0.376