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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter IGSF21 84966 broad.mit.edu 37 1 18618451 18618451 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:18618451G>T uc001bau.1 + 3 658 c.275G>T c.(274-276)CGA>CTA p.R92L NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 92 Ig-like 1. extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TACCGCAAGCGAGAGGACCTG 0.617 77 225 --- --- --- --- PASS RPS6KA1 6195 broad.mit.edu 37 1 26885313 26885313 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:26885313C>G uc001bmr.1 + 14 1263 c.1100C>G c.(1099-1101)CCC>CGC p.P367R RPS6KA1_uc010ofe.1_Missense_Mutation_p.P275R|RPS6KA1_uc010off.1_Missense_Mutation_p.P351R|RPS6KA1_uc001bms.1_Missense_Mutation_p.P376R|RPS6KA1_uc009vsl.1_Missense_Mutation_p.P210R NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 367 AGC-kinase C-terminal. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CCAGGCATCCCCCCCAGCGCT 0.672 35 127 --- --- --- --- PASS GNL2 29889 broad.mit.edu 37 1 38058403 38058403 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:38058403T>A uc001cbk.2 - 3 317 c.154A>T c.(154-156)AGT>TGT p.S52C GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Missense_Mutation_p.S52C NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 52 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) TTACCACGACTGTTCCTAAAT 0.363 86 254 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39798770 39798770 + Silent SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:39798770T>C uc010oiu.1 + 1 1961 c.1830T>C c.(1828-1830)TGT>TGC p.C610C MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2175 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCTTTACATGTCAGAATGAAC 0.393 3 183 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44056824 44056824 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:44056824C>T uc001cjr.2 + 9 1471 c.1131C>T c.(1129-1131)GGC>GGT p.G377G PTPRF_uc001cjs.2_Silent_p.G377G|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 377 Extracellular (Potential).|Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACAGCATTGGCGGCCTCAGCC 0.667 4 144 --- --- --- --- PASS DNAJC6 9829 broad.mit.edu 37 1 65845103 65845103 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:65845103C>T uc001dcd.1 + 5 555 c.391C>T c.(391-393)CCC>TCC p.P131S DNAJC6_uc001dcc.1_Missense_Mutation_p.P162S|DNAJC6_uc010opc.1_Missense_Mutation_p.P118S|DNAJC6_uc001dce.1_Missense_Mutation_p.P188S NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 131 Phosphatase tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 ATGCAGTTGGCCCATTAGGCA 0.458 6 274 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66036267 66036267 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:66036267C>A uc001dci.2 + 4 354 c.152C>A c.(151-153)GCT>GAT p.A51D LEPR_uc001dcg.2_Missense_Mutation_p.A51D|LEPR_uc001dch.2_Missense_Mutation_p.A51D|LEPR_uc009waq.2_Missense_Mutation_p.A51D|LEPR_uc001dcj.2_Missense_Mutation_p.A51D|LEPR_uc001dck.2_Missense_Mutation_p.A51D NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 51 Extracellular (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CTTTTGCCTGCTGGACTCTCA 0.368 76 202 --- --- --- --- PASS ACADM 34 broad.mit.edu 37 1 76205738 76205738 + Missense_Mutation SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:76205738A>G uc001dgw.3 + 7 972 c.542A>G c.(541-543)GAT>GGT p.D181G ACADM_uc010orc.1_3'UTR|ACADM_uc010ord.1_Missense_Mutation_p.D95G|ACADM_uc009wbp.2_Missense_Mutation_p.D185G|ACADM_uc009wbr.2_Missense_Mutation_p.D214G|ACADM_uc010ore.1_Missense_Mutation_p.D145G|ACADM_uc010orf.1_5'UTR|ACADM_uc001dgx.3_Missense_Mutation_p.D95G|ACADM_uc010org.1_Missense_Mutation_p.D51G NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a 181 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 AAGAAAGGAGATGAGTATATT 0.333 46 135 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103444940 103444940 + Silent SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:103444940G>T uc001dul.2 - 32 2926 c.2608C>A c.(2608-2610)CGG>AGG p.R870R COL11A1_uc001duk.2_Silent_p.R66R|COL11A1_uc001dum.2_Silent_p.R882R|COL11A1_uc001dun.2_Silent_p.R831R|COL11A1_uc009weh.2_Silent_p.R754R NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 870 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TATCATACCCGTGCACCTTTC 0.249 9 32 --- --- --- --- PASS PPM1J 333926 broad.mit.edu 37 1 113253886 113253886 + Splice_Site SNP A C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:113253886A>C uc001ect.1 - 6 1073 c.1046_splice c.e6+1 p.W349_splice PPM1J_uc009wgl.1_Splice_Site|PPM1J_uc001ecs.1_Splice_Site_p.W143_splice NM_005167 NP_005158 Q5JR12 PPM1J_HUMAN protein phosphatase 1J (PP2C domain containing) breast(2)|central_nervous_system(1) 3 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGAAGTGTTACCAGCCGGTC 0.612 6 26 --- --- --- --- PASS AMPD1 270 broad.mit.edu 37 1 115220031 115220031 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:115220031G>T uc001efe.1 - 10 1413 c.1329C>A c.(1327-1329)TTC>TTA p.F443L AMPD1_uc001eff.1_Missense_Mutation_p.F439L NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 443 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GATTGCAGACGAACCAGGAGG 0.562 12 219 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118558588 118558588 + Silent SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:118558588C>A uc001ehk.2 - 29 4355 c.4287G>T c.(4285-4287)ACG>ACT p.T1429T NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1429 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTTGTCATACCGTTCCATTGA 0.303 33 95 --- --- --- --- PASS ANKRD34A 284615 broad.mit.edu 37 1 145473835 145473835 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:145473835G>A uc001enq.1 + 4 1800 c.507G>A c.(505-507)GAG>GAA p.E169E NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 169 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAGGGGTGGAGGACCCTGCTC 0.617 86 153 --- --- --- --- PASS RAB13 5872 broad.mit.edu 37 1 153958590 153958590 + Silent SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:153958590G>T uc001fdt.1 - 1 217 c.123C>A c.(121-123)ATC>ATA p.I41I RAB13_uc001fdu.1_Silent_p.I41I NM_002870 NP_002861 P51153 RAB13_HUMAN RAB13, member RAS oncogene family 41 Effector region (By similarity). cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport cytoplasmic vesicle membrane|tight junction GTP binding|GTPase activity 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CGGGCTCACCGATGGTGGAGA 0.552 20 71 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 153984754 153984754 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:153984754G>C uc001fdw.2 - 34 4818 c.4746C>G c.(4744-4746)TTC>TTG p.F1582L NUP210L_uc009woq.2_Missense_Mutation_p.F491L|NUP210L_uc010peh.1_Missense_Mutation_p.F1582L NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1582 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) CAGTGGTGATGAAGAGCTTGA 0.398 86 467 --- --- --- --- PASS DCST2 127579 broad.mit.edu 37 1 155006038 155006038 + Missense_Mutation SNP A C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:155006038A>C uc001fgm.2 - 1 220 c.140T>G c.(139-141)GTG>GGG p.V47G DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 47 Helical; (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTGGCCTTCCACCAGTAGCTC 0.627 80 179 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157659687 157659687 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:157659687C>A uc001frb.2 - 10 2003 c.1711G>T c.(1711-1713)GGC>TGC p.G571C FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.G571C|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.G297C|FCRL3_uc001frc.1_Missense_Mutation_p.G571C NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 571 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) GCGGTAAGGCCTGTTCTGTTC 0.557 93 123 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158615155 158615155 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:158615155C>G uc001fst.1 - 29 4216 c.4017G>C c.(4015-4017)GAG>GAC p.E1339D NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1339 Spectrin 13. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GAGCCTCTGCCTCCATGTCAG 0.483 106 100 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158623161 158623161 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:158623161C>T uc001fst.1 - 22 3290 c.3091G>A c.(3091-3093)GTC>ATC p.V1031I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1031 SH3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGTCTTCTGACATAGACAGCT 0.547 141 152 --- --- --- --- PASS IGSF9 57549 broad.mit.edu 37 1 159900969 159900969 + Silent SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:159900969A>G uc001fur.2 - 13 1794 c.1596T>C c.(1594-1596)GAT>GAC p.D532D IGSF9_uc001fuq.2_Silent_p.D516D|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 532 Fibronectin type-III 1.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GATAACCACCATCAAAGCCAG 0.557 20 92 --- --- --- --- PASS KIFAP3 22920 broad.mit.edu 37 1 169993677 169993677 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:169993677T>C uc001ggv.2 - 9 1173 c.902A>G c.(901-903)AAC>AGC p.N301S KIFAP3_uc010plx.1_Missense_Mutation_p.N3S NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 301 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TATGTTCTTGTTCCTCATTTT 0.343 21 101 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176563866 176563866 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:176563866A>T uc001gkz.2 + 3 2290 c.1126A>T c.(1126-1128)ATG>TTG p.M376L PAPPA2_uc001gky.1_Missense_Mutation_p.M376L|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 376 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGGACGGCACATGGCCCTGTA 0.582 41 141 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179494492 179494492 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:179494492G>A uc001gmo.2 + 22 2647 c.2520G>A c.(2518-2520)GAG>GAA p.E840E C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 840 Glu-rich. 0 AATTCATTGAGCCTGAAATAG 0.289 5 66 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186008977 186008977 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:186008977G>A uc001grq.1 + 39 6375 c.6146G>A c.(6145-6147)GGG>GAG p.G2049E NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2049 Ig-like C2-type 18. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TTGAAAGATGGGAGTCCTGTT 0.443 151 166 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197390149 197390149 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:197390149C>T uc001gtz.2 + 6 1326 c.1191C>T c.(1189-1191)GAC>GAT p.D397D CRB1_uc010poz.1_Silent_p.D328D|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.D285D|CRB1_uc010ppb.1_Silent_p.D397D|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Translation_Start_Site|CRB1_uc001gub.1_Silent_p.D46D NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 397 Extracellular (Potential).|EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 GCGAAGAAGACGTCAATGAAT 0.333 88 212 --- --- --- --- PASS TNNT2 7139 broad.mit.edu 37 1 201332453 201332453 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:201332453T>C uc001gwf.2 - 12 640 c.571A>G c.(571-573)ATG>GTG p.M191V TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_5'Flank|TNNT2_uc001gwg.2_Missense_Mutation_p.M181V|TNNT2_uc001gwh.2_Missense_Mutation_p.M176V|TNNT2_uc001gwi.2_Missense_Mutation_p.M151V|TNNT2_uc009wzr.2_Missense_Mutation_p.M122V|TNNT2_uc001gwj.1_RNA|TNNT2_uc009wzs.1_Missense_Mutation_p.M156V|TNNT2_uc001gwk.1_Missense_Mutation_p.M122V|TNNT2_uc009wzt.1_Missense_Mutation_p.M181V NM_000364 NP_000355 P45379 TNNT2_HUMAN troponin T type 2, cardiac isoform 1 191 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding 0 AAATGCATCATGTTGGACAAA 0.552 264 450 --- --- --- --- PASS NUAK2 81788 broad.mit.edu 37 1 205272861 205272861 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:205272861C>G uc001hce.2 - 7 1731 c.1604G>C c.(1603-1605)CGG>CCG p.R535P NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 535 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) TCGGCTGGCCCGGGCCAGGGG 0.657 47 69 --- --- --- --- PASS IKBKE 9641 broad.mit.edu 37 1 206647710 206647710 + Missense_Mutation SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:206647710A>G uc001hdz.1 + 4 492 c.124A>G c.(124-126)ACT>GCT p.T42A IKBKE_uc009xbu.1_Missense_Mutation_p.T42A|IKBKE_uc009xbv.1_Missense_Mutation_p.T42A|IKBKE_uc001hea.1_5'UTR NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 42 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) GGTCTTCAACACTACCAGCTA 0.577 31 130 --- --- --- --- PASS ITPKB 3707 broad.mit.edu 37 1 226924704 226924704 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:226924704C>T uc010pvo.1 - 2 796 c.456G>A c.(454-456)GCG>GCA p.A152A ITPKB_uc001hqh.2_Silent_p.A152A NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 152 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) CCTGGATGTGCGCCTCAAACA 0.667 6 324 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229633923 229633923 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:229633923G>A uc001htn.2 - 6 871 c.779C>T c.(778-780)TCT>TTT p.S260F NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 260 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) AAAAAGAGAAGAAACTTTTCG 0.353 12 150 --- --- --- --- PASS ZNF496 84838 broad.mit.edu 37 1 247464543 247464543 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr1:247464543C>G uc001ico.2 - 9 1507 c.1042G>C c.(1042-1044)GAT>CAT p.D348H ZNF496_uc009xgv.2_Missense_Mutation_p.D384H|ZNF496_uc001icp.2_Missense_Mutation_p.D348H NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 348 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) ACTTCTTCATCCAGGCTGTTC 0.607 31 134 --- --- --- --- PASS CMPK2 129607 broad.mit.edu 37 2 7005270 7005270 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:7005270C>A uc002qyo.2 - 1 667 c.558G>T c.(556-558)CAG>CAT p.Q186H CMPK2_uc010yis.1_Missense_Mutation_p.Q186H|CMPK2_uc010ewv.2_Missense_Mutation_p.Q186H NM_207315 NP_997198 Q5EBM0 CMPK2_HUMAN UMP-CMP kinase 2 precursor 186 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CGCAGCCCACCTGCAGCCGCC 0.736 2 1 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37241027 37241027 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:37241027G>A uc002rpp.1 - 27 4337 c.4241C>T c.(4240-4242)GCC>GTC p.A1414V HEATR5B_uc010ezy.1_5'UTR|HEATR5B_uc002rpq.3_5'UTR NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1414 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) CATGGTCGTGGCACTCTCTCG 0.443 5 324 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43927291 43927291 + Silent SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:43927291A>T uc010yny.1 + 8 1277 c.1194A>T c.(1192-1194)TCA>TCT p.S398S PLEKHH2_uc002rte.3_Silent_p.S398S|PLEKHH2_uc002rtf.3_Silent_p.S397S NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 398 Poly-Ser. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCGATTATTCATCTTCATCGA 0.403 57 152 --- --- --- --- PASS ABCG8 64241 broad.mit.edu 37 2 44078792 44078792 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:44078792A>T uc002rtq.2 + 4 482 c.392A>T c.(391-393)CAG>CTG p.Q131L ABCG8_uc010yoa.1_Missense_Mutation_p.Q131L NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 131 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AAGTCAGGCCAGATCTGGATC 0.602 19 71 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98928346 98928346 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:98928346G>T uc002syo.2 + 27 3850 c.3586G>T c.(3586-3588)GAT>TAT p.D1196Y VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.D853Y|VWA3B_uc002syp.1_Missense_Mutation_p.D588Y|VWA3B_uc002syq.1_Missense_Mutation_p.D472Y|VWA3B_uc002syr.1_Missense_Mutation_p.D513Y|VWA3B_uc002sys.2_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1196 ovary(3)|large_intestine(2)|skin(1) 6 GGACACGCAGGATTCCAGAGA 0.602 3 11 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125521710 125521710 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:125521710G>C uc002tno.2 + 16 2880 c.2516G>C c.(2515-2517)CGA>CCA p.R839P CNTNAP5_uc010flu.2_Missense_Mutation_p.R840P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 839 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GACTTCATTCGACTCGAAATA 0.289 29 118 --- --- --- --- PASS GPR39 2863 broad.mit.edu 37 2 133402883 133402883 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:133402883G>A uc002ttl.2 + 2 1535 c.1066G>A c.(1066-1068)GTG>ATG p.V356M LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 356 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 GCGGGTGTTCGTGCAGGTGCT 0.627 17 49 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152382499 152382499 + Silent SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:152382499G>C uc010fnx.2 - 122 17222 c.17031C>G c.(17029-17031)GTC>GTG p.V5677V NEB_uc002txr.2_Silent_p.V2100V|NEB_uc002txt.3_Silent_p.V182V NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5677 Nebulin 155. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCACTTCCTTGACGTGAACAG 0.483 174 528 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166895938 166895938 + Nonsense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:166895938G>A uc010zcz.1 - 14 2569 c.2551C>T c.(2551-2553)CGA>TGA p.R851* SCN1A_uc002udo.3_Nonsense_Mutation_p.R731*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.R703* NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 862 Helical; Voltage-sensor; Name=S4 of repeat II; (By similarity).|II. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTTACCAATCGAAATGAACGG 0.378 33 71 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168107591 168107591 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:168107591G>C uc002udx.2 + 8 9707 c.9689G>C c.(9688-9690)CGT>CCT p.R3230P XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3055P|XIRP2_uc010fpq.2_Missense_Mutation_p.R3008P|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3055 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATAGAAACTCGTGGTAGGGAC 0.448 56 150 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098960 178098960 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:178098960C>T uc002ulh.3 - 2 640 c.85G>A c.(85-87)GAT>AAT p.D29N NFE2L2_uc002ulg.3_Missense_Mutation_p.D13N|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13N|NFE2L2_uc002uli.3_Missense_Mutation_p.D13N|NFE2L2_uc010fra.2_Missense_Mutation_p.D13N|NFE2L2_uc010frb.2_Missense_Mutation_p.D13N NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTCCAAGATCTATATCTTGC 0.363 Mis NSCLC|HNSCC HNSCC(56;0.16) 18 85 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179404238 179404238 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:179404238C>T uc010zfg.1 - 301 91074 c.90850G>A c.(90850-90852)GGT>AGT p.G30284S uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G23979S|TTN_uc010zfi.1_Missense_Mutation_p.G23912S|TTN_uc010zfj.1_Missense_Mutation_p.G23787S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31211 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) AGAGATGTACCTCGGACTCTG 0.468 104 315 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179417151 179417151 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:179417151G>C uc010zfg.1 - 284 82996 c.82772C>G c.(82771-82773)CCC>CGC p.P27591R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21286R|TTN_uc010zfi.1_Missense_Mutation_p.P21219R|TTN_uc010zfj.1_Missense_Mutation_p.P21094R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28518 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) GGATGGTTTGGGTTTTCCCTT 0.398 35 66 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179593713 179593713 + Missense_Mutation SNP A C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:179593713A>C uc010zfg.1 - 62 15544 c.15320T>G c.(15319-15321)ATC>AGC p.I5107S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I1768S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6034 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) CACACTTCTGATTTGAAGTGT 0.398 10 29 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179640118 179640118 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:179640118C>A uc010zfg.1 - 28 6697 c.6473G>T c.(6472-6474)GGA>GTA p.G2158V TTN_uc010zfh.1_Missense_Mutation_p.G2112V|TTN_uc010zfi.1_Missense_Mutation_p.G2112V|TTN_uc010zfj.1_Missense_Mutation_p.G2112V|TTN_uc002unb.2_Missense_Mutation_p.G2158V|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2158 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) GGAGGTTTCTCCAGCTATGTT 0.428 54 131 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179664351 179664351 + Silent SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:179664351C>A uc002und.2 - 6 1002 c.777G>T c.(775-777)CCG>CCT p.P259P TTN_uc010zfg.1_Silent_p.P259P|TTN_uc010zfh.1_Silent_p.P259P|TTN_uc010zfi.1_Silent_p.P259P|TTN_uc010zfj.1_Silent_p.P259P|TTN_uc002unb.2_Silent_p.P259P Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 259 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R256_K260>K(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) ACTTTGGCTTCGGAGGAATCC 0.552 33 102 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212812269 212812269 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:212812269G>A uc002veg.1 - 3 405 c.307C>T c.(307-309)CGC>TGC p.R103C ERBB4_uc002veh.1_Missense_Mutation_p.R103C|ERBB4_uc010zji.1_Missense_Mutation_p.R103C|ERBB4_uc010zjj.1_Missense_Mutation_p.R103C|ERBB4_uc010fut.1_Missense_Mutation_p.R103C NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 103 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CGAATAATGCGTAAATTCTCC 0.398 TSP Lung(8;0.080) 17 70 --- --- --- --- PASS IKZF2 22807 broad.mit.edu 37 2 213921707 213921707 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:213921707C>T uc002vem.2 - 4 425 c.256G>A c.(256-258)GAG>AAG p.E86K IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.E33K|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.E86K|IKZF2_uc002vel.2_Missense_Mutation_p.E33K|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_Intron|IKZF2_uc010fuy.2_Missense_Mutation_p.E86K|IKZF2_uc002ven.2_Missense_Mutation_p.E86K NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TCGCTGCTCTCAATTAGGGGT 0.522 65 193 --- --- --- --- PASS VWC2L 402117 broad.mit.edu 37 2 215301452 215301452 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:215301452C>G uc002vet.2 + 3 620 c.490C>G c.(490-492)CCA>GCA p.P164A VWC2L_uc010zjl.1_Intron NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 164 VWFC 2. extracellular region 0 AGTCTATGAACCAGAACAATG 0.463 20 110 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220167082 220167082 + Silent SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:220167082A>G uc002vkz.2 - 6 860 c.771T>C c.(769-771)CCT>CCC p.P257P PTPRN_uc010zlc.1_Silent_p.P167P|PTPRN_uc002vla.2_Silent_p.P257P NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 257 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) AGGAGTGGCCAGGGTGGTCCC 0.637 13 27 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220312995 220312995 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:220312995G>T uc010fwg.2 + 4 1115 c.1115G>T c.(1114-1116)CGA>CTA p.R372L SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 372 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCGGAATCCCGACCCCAGACG 0.697 13 33 --- --- --- --- PASS GMPPA 29926 broad.mit.edu 37 2 220371037 220371037 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:220371037G>T uc002vlr.2 + 12 1123 c.1055G>T c.(1054-1056)CGC>CTC p.R352L GMPPA_uc002vls.2_Missense_Mutation_p.R352L|GMPPA_uc002vlt.2_Missense_Mutation_p.R405L|GMPPA_uc002vlu.2_Missense_Mutation_p.R405L|GMPPA_uc002vlv.2_Missense_Mutation_p.R352L|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.R352L NM_013335 NP_037467 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 352 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) CGCTGGGCCCGCGTGGAGGGT 0.627 49 133 --- --- --- --- PASS C2orf57 165100 broad.mit.edu 37 2 232458559 232458559 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr2:232458559C>T uc002vrz.2 + 1 948 c.897C>T c.(895-897)ACC>ACT p.T299T NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 299 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) GGTCCGAGACCACCATGGGCA 0.647 33 154 --- --- --- --- PASS KLHL18 23276 broad.mit.edu 37 3 47378109 47378109 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:47378109G>C uc003crd.2 + 7 1109 c.983G>C c.(982-984)CGC>CCC p.R328P KLHL18_uc003crc.2_Missense_Mutation_p.R328P|KLHL18_uc011bav.1_Missense_Mutation_p.R216P|KLHL18_uc010hjq.1_Missense_Mutation_p.R184P NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 328 Kelch 1. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GCCCGCAGCCGCGTTGGCGTG 0.572 24 42 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48604596 48604596 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:48604596C>A uc003ctz.2 - 109 8075 c.8074G>T c.(8074-8076)GGC>TGC p.G2692C NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2692 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCTTGGGGCCTGGCTGCCCG 0.597 46 110 --- --- --- --- PASS ABI3BP 25890 broad.mit.edu 37 3 100645170 100645170 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:100645170C>T uc003dun.2 - 2 341 c.256G>A c.(256-258)GGG>AGG p.G86R ABI3BP_uc003duo.2_Missense_Mutation_p.G79R|ABI3BP_uc003dup.3_Missense_Mutation_p.G79R NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 86 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 GTGAATTTCCCTTCAGCGGGA 0.478 133 77 --- --- --- --- PASS BBX 56987 broad.mit.edu 37 3 107447803 107447803 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:107447803G>T uc010hpr.2 + 6 924 c.597G>T c.(595-597)ATG>ATT p.M199I BBX_uc003dwk.3_Missense_Mutation_p.M199I|BBX_uc003dwl.3_Missense_Mutation_p.M199I|BBX_uc010hps.1_Missense_Mutation_p.M220I|BBX_uc003dwm.3_Missense_Mutation_p.M199I NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) ACTTTGGAATGGCTGGTGAGT 0.443 120 698 --- --- --- --- PASS SEMA5B 54437 broad.mit.edu 37 3 122634307 122634307 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:122634307G>A uc003efz.1 - 14 2272 c.1968C>T c.(1966-1968)ATC>ATT p.I656I SEMA5B_uc011bju.1_Silent_p.I598I|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.I656I|SEMA5B_uc010hro.1_Silent_p.I598I NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 656 Extracellular (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) TGGCGATGTGGATGGCTGGCC 0.607 54 191 --- --- --- --- PASS MYLK 4638 broad.mit.edu 37 3 123471267 123471267 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:123471267G>T uc003ego.2 - 5 566 c.284C>A c.(283-285)GCT>GAT p.A95D MYLK_uc011bjw.1_Missense_Mutation_p.A95D|MYLK_uc003egp.2_Missense_Mutation_p.A95D|MYLK_uc003egq.2_Missense_Mutation_p.A95D|MYLK_uc003egr.2_Missense_Mutation_p.A95D|MYLK_uc003egs.2_Intron|MYLK_uc010hrs.1_Missense_Mutation_p.A95D|MYLK_uc003egu.1_Missense_Mutation_p.A105D NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 95 Ig-like C2-type 1. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTCATGGACAGCATGAATCAC 0.587 5 312 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124153219 124153219 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:124153219C>T uc003ehg.2 + 17 3016 c.2889C>T c.(2887-2889)GCC>GCT p.A963A KALRN_uc010hrv.1_Silent_p.A954A|KALRN_uc003ehf.1_Silent_p.A963A|KALRN_uc011bjy.1_Silent_p.A954A|KALRN_uc003ehh.1_Silent_p.A309A NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 963 Spectrin 4. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AGCAGAAAGCCGAGGTGCTGC 0.597 35 87 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129290099 129290099 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:129290099C>T uc003emx.2 - 18 3484 c.3384G>A c.(3382-3384)GGG>GGA p.G1128G NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1128 Extracellular (Potential).|IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGCTCAGGGCCCCGGGGGACG 0.657 149 80 --- --- --- --- PASS NCK1 4690 broad.mit.edu 37 3 136646961 136646961 + Nonsense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:136646961C>T uc003erh.2 + 2 225 c.118C>T c.(118-120)CGA>TGA p.R40* NCK1_uc011bme.1_5'Flank NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 40 SH3 1. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 GTCCTGGTGGCGAGTTCGAAA 0.398 148 421 --- --- --- --- PASS CHST2 9435 broad.mit.edu 37 3 142840260 142840260 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:142840260G>T uc003evm.2 + 2 1491 c.602G>T c.(601-603)TGG>TTG p.W201L NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 201 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 TGGCATGTATGGCAAAAACTG 0.572 117 428 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147130463 147130463 + Missense_Mutation SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:147130463A>G uc003ewe.2 + 2 1860 c.1141A>G c.(1141-1143)ATG>GTG p.M381V NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 381 C2H2-type 5. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCGCAAACACATGAAGGTAAT 0.617 41 343 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147131289 147131289 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:147131289C>G uc003ewe.2 + 3 2014 c.1295C>G c.(1294-1296)ACA>AGA p.T432R NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 432 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTCCACCACACAGCCGGCCAC 0.507 7 428 --- --- --- --- PASS OTOL1 131149 broad.mit.edu 37 3 161221516 161221516 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:161221516C>T uc011bpb.1 + 4 1220 c.1220C>T c.(1219-1221)GCC>GTC p.A407V NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 407 C1q. collagen 0 AGTCTGGTGGCCCAGAATAAG 0.473 28 149 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180377270 180377270 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:180377270C>T uc010hxe.2 - 6 823 c.708G>A c.(706-708)AAG>AAA p.K236K CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 236 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTCCATCCCTCTTCTGCATCT 0.348 168 121 --- --- --- --- PASS FXR1 8087 broad.mit.edu 37 3 180667070 180667070 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:180667070G>T uc003fkq.2 + 7 591 c.569G>T c.(568-570)CGA>CTA p.R190L FXR1_uc003fkp.2_Missense_Mutation_p.R105L|FXR1_uc003fkr.2_Missense_Mutation_p.R190L|FXR1_uc011bqj.1_Missense_Mutation_p.R104L|FXR1_uc003fks.2_Missense_Mutation_p.R104L|FXR1_uc011bqk.1_Missense_Mutation_p.R141L|FXR1_uc011bql.1_Missense_Mutation_p.R177L NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 190 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) ATGCATTTGCGAAGTATTCGT 0.368 204 552 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186980499 186980499 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr3:186980499C>G uc003frh.1 - 3 579 c.247G>C c.(247-249)GAG>CAG p.E83Q MASP1_uc003fri.2_Missense_Mutation_p.E83Q|MASP1_uc003frj.2_Missense_Mutation_p.E52Q|MASP1_uc003frk.1_Missense_Mutation_p.E83Q|MASP1_uc011bse.1_Missense_Mutation_p.E57Q NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 83 Interaction with FCN2.|Interaction with MBL2.|Homodimerization (By similarity).|CUB 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ACCTGGTCCTCAGTTTCTACC 0.532 54 193 --- --- --- --- PASS FGFRL1 53834 broad.mit.edu 37 4 1018453 1018453 + Splice_Site SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:1018453G>A uc003gce.2 + 6 1233 c.1072_splice c.e6+1 p.D358_splice FGFRL1_uc003gcf.2_Splice_Site_p.D358_splice|FGFRL1_uc003gcg.2_Splice_Site_p.D358_splice|FGFRL1_uc010ibo.2_Splice_Site_p.D358_splice NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GTGCTGCCAGGTGCGCGGCTG 0.726 5 3 --- --- --- --- PASS QDPR 5860 broad.mit.edu 37 4 17513587 17513587 + Silent SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:17513587G>T uc003gpd.2 - 1 271 c.91C>A c.(91-93)CGG>AGG p.R31R QDPR_uc003gpe.2_Silent_p.R31R|QDPR_uc003gpf.2_RNA NM_000320 NP_000311 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 31 NADP. dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity ovary(1) 1 NADH(DB00157) TTGCGGGCCCGAAAAGCCTGC 0.731 4 10 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46264131 46264131 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:46264131G>C uc003gxc.3 - 8 1544 c.871C>G c.(871-873)CTA>GTA p.L291V GABRA2_uc010igc.2_Missense_Mutation_p.L291V|GABRA2_uc011bzc.1_Missense_Mutation_p.L236V|GABRA2_uc003gxe.2_Missense_Mutation_p.L291V NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 291 Helical; (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTCATTGTTAGGACAGTTGTT 0.433 8 144 --- --- --- --- PASS TEC 7006 broad.mit.edu 37 4 48172291 48172291 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:48172291C>A uc003gxz.2 - 5 519 c.428G>T c.(427-429)TGT>TTT p.C143F NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 143 Btk-type. Zinc (By similarity). intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 GTATTTTTCACATCCGGGTGC 0.289 30 63 --- --- --- --- PASS LRRC66 339977 broad.mit.edu 37 4 52861814 52861814 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:52861814G>C uc003gzi.2 - 4 1387 c.1374C>G c.(1372-1374)TTC>TTG p.F458L NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 458 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GTGTCACCCAGAAAGGGGTCT 0.562 55 148 --- --- --- --- PASS SPATA18 132671 broad.mit.edu 37 4 52936033 52936033 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:52936033G>A uc003gzl.2 + 5 747 c.469G>A c.(469-471)GCC>ACC p.A157T SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Intron|SPATA18_uc003gzk.1_Missense_Mutation_p.A157T NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 157 Potential. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GAACAGATCGGCCATATCCCT 0.294 11 24 --- --- --- --- PASS SPATA18 132671 broad.mit.edu 37 4 52944901 52944901 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:52944901G>A uc003gzl.2 + 8 1299 c.1021G>A c.(1021-1023)GAG>AAG p.E341K SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.E309K|SPATA18_uc003gzk.1_Missense_Mutation_p.E341K NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 341 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TTATGTGCAGGAGGCATTCCA 0.393 66 184 --- --- --- --- PASS SULT1B1 27284 broad.mit.edu 37 4 70596284 70596284 + Missense_Mutation SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:70596284A>G uc003hen.2 - 7 1011 c.713T>C c.(712-714)TTG>TCG p.L238S NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 238 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 ATAATTTACCAAAGGATTGTC 0.363 41 119 --- --- --- --- PASS HTN1 3346 broad.mit.edu 37 4 70921229 70921229 + Silent SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:70921229A>T uc003hex.2 + 5 184 c.117A>T c.(115-117)TCA>TCT p.S39S NM_002159 NP_002150 P15515 HIS1_HUMAN histatin 1 precursor 39 biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding skin(1) 1 AGCATCATTCACATCGAGAAT 0.348 17 87 --- --- --- --- PASS GC 2638 broad.mit.edu 37 4 72635072 72635072 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:72635072A>T uc003hge.2 - 2 257 c.104T>A c.(103-105)CTG>CAG p.L35Q GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.L35Q|GC_uc010iif.2_Missense_Mutation_p.L54Q NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 35 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) CTCCTTTCCCAGATGGGAGAA 0.408 11 56 --- --- --- --- PASS MEPE 56955 broad.mit.edu 37 4 88766940 88766940 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:88766940C>A uc003hqy.2 + 4 959 c.920C>A c.(919-921)CCA>CAA p.P307Q MEPE_uc010ikn.2_Missense_Mutation_p.P194Q NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 307 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AATGAGATCCCAGAGAGAGAA 0.453 45 135 --- --- --- --- PASS TET2 54790 broad.mit.edu 37 4 106155322 106155322 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:106155322A>T uc003hxk.2 + 3 609 c.223A>T c.(223-225)AGT>TGT p.S75C TET2_uc011cez.1_Missense_Mutation_p.S96C|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S75C|TET2_uc003hxi.1_Missense_Mutation_p.S75C NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 75 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TAGTCGTGTGAGTCCTGACTT 0.428 Mis N|F MDS 66 211 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114251538 114251538 + Nonsense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:114251538A>T uc003ibe.3 + 27 3137 c.3037A>T c.(3037-3039)AGA>TGA p.R1013* ANK2_uc003ibd.3_Nonsense_Mutation_p.R1004*|ANK2_uc003ibf.3_Nonsense_Mutation_p.R1013*|ANK2_uc011cgc.1_Nonsense_Mutation_p.R222*|ANK2_uc003ibg.3_Nonsense_Mutation_p.R41*|ANK2_uc003ibc.2_Nonsense_Mutation_p.R989*|ANK2_uc011cgb.1_Nonsense_Mutation_p.R1028* NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1013 ZU5.|Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAAGCGCCACAGACTGGCAAC 0.547 23 89 --- --- --- --- PASS ZNF330 27309 broad.mit.edu 37 4 142155097 142155097 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:142155097G>T uc003iiq.3 + 10 1137 c.917G>T c.(916-918)AGG>ATG p.R306M ZNF330_uc011chl.1_Missense_Mutation_p.R246M NM_014487 NP_055302 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 306 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding 0 all_hematologic(180;0.162) AATTTAGGAAGGACCTATGCT 0.363 60 207 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155156611 155156611 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:155156611C>T uc003inw.2 - 25 7828 c.7828G>A c.(7828-7830)GTG>ATG p.V2610M NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2610 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTGGCATCCACAGGGACCACC 0.483 71 226 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155253955 155253955 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:155253955G>A uc003inw.2 - 9 1908 c.1908C>T c.(1906-1908)ATC>ATT p.I636I DCHS2_uc003inx.2_Silent_p.I1135I NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 636 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGTAAGGGCGGATTCCAAACA 0.522 34 85 --- --- --- --- PASS NAF1 92345 broad.mit.edu 37 4 164054361 164054361 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:164054361C>T uc003iqj.2 - 7 1172 c.978G>A c.(976-978)AGG>AGA p.R326R NAF1_uc010iqw.1_Silent_p.R326R NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 326 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) GAGATTTTTTCCTCTGTTTGG 0.323 35 102 --- --- --- --- PASS CLDN22 53842 broad.mit.edu 37 4 184241242 184241242 + Nonsense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:184241242C>A uc010isa.1 - 1 686 c.130G>T c.(130-132)GAA>TAA p.E44* WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR NM_001111319 NP_001104789 Q8N7P3 CLD22_HUMAN claudin 22 44 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176) all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GTCCAGTTTTCCATTTCATTT 0.468 95 259 --- --- --- --- PASS SLC25A4 291 broad.mit.edu 37 4 186066998 186066998 + Silent SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr4:186066998C>A uc003ixd.2 + 3 813 c.684C>A c.(682-684)TCC>TCA p.S228S SLC25A4_uc003ixe.2_RNA NM_001151 NP_001142 P12235 ADT1_HUMAN adenine nucleotide translocator 1 228 Helical; Name=5; (By similarity).|Solcar 3. energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction integral to plasma membrane|mitochondrial inner membrane adenine transmembrane transporter activity|protein binding ovary(1) 1 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) Adenosine triphosphate(DB00171)|Clodronate(DB00720) GGCTGGTGTCCTACCCCTTTG 0.542 4 96 --- --- --- --- PASS LPCAT1 79888 broad.mit.edu 37 5 1489888 1489888 + Silent SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:1489888C>A uc003jcm.2 - 4 696 c.579G>T c.(577-579)CGG>CGT p.R193R NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 193 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TGGACTGCGCCCGTCTCTTGA 0.512 115 261 --- --- --- --- PASS FYB 2533 broad.mit.edu 37 5 39135117 39135117 + Splice_Site SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:39135117C>T uc003jls.2 - 7 1583 c.1516_splice c.e7-1 p.L506_splice FYB_uc003jlt.2_Splice_Site_p.L506_splice|FYB_uc003jlu.2_Splice_Site_p.L506_splice|FYB_uc011cpl.1_Splice_Site_p.L516_splice NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) GGCCTGTTAGCTGCAAAGAGA 0.338 43 146 --- --- --- --- PASS PAIP1 10605 broad.mit.edu 37 5 43547830 43547830 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:43547830C>A uc003job.2 - 3 868 c.621G>T c.(619-621)CAG>CAT p.Q207H PAIP1_uc003joa.2_Missense_Mutation_p.Q128H|PAIP1_uc010ivp.2_Missense_Mutation_p.Q128H|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.Q95H NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 207 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) GCCAACATACCTGTTGATAGA 0.443 54 122 --- --- --- --- PASS CDK7 1022 broad.mit.edu 37 5 68568823 68568823 + Missense_Mutation SNP A C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:68568823A>C uc003jvs.3 + 10 1000 c.819A>C c.(817-819)CAA>CAC p.Q273H CDK7_uc003jvt.3_Missense_Mutation_p.Q232H|CDK7_uc003jvu.3_Missense_Mutation_p.Q180H NM_001799 NP_001790 P50613 CDK7_HUMAN cyclin-dependent kinase 7 273 Protein kinase. androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity lung(1) 1 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) ATCTCATACAAGGCTTATTCT 0.358 NER 49 118 --- --- --- --- PASS COL4A3BP 10087 broad.mit.edu 37 5 74676909 74676909 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:74676909A>T uc011csu.1 - 16 2157 c.1735T>A c.(1735-1737)TAT>AAT p.Y579N COL4A3BP_uc003kds.2_Missense_Mutation_p.Y553N|COL4A3BP_uc003kdt.2_Missense_Mutation_p.Y707N|COL4A3BP_uc003kdu.2_Missense_Mutation_p.Y579N NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN alpha 3 type IV collagen binding protein isoform 579 START. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity skin(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TTAGCTACATATGTAATCTTG 0.363 104 271 --- --- --- --- PASS DMGDH 29958 broad.mit.edu 37 5 78322340 78322340 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:78322340C>T uc003kfs.2 - 13 2103 c.2097G>A c.(2095-2097)ATG>ATA p.M699I DMGDH_uc011cte.1_Missense_Mutation_p.M549I|DMGDH_uc011ctf.1_Missense_Mutation_p.M498I|DMGDH_uc011ctg.1_Missense_Mutation_p.M319I NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor 699 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity ovary(2)|liver(1)|skin(1) 4 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) GGCCTGCATTCATGATAGCGT 0.512 66 166 --- --- --- --- PASS AFF4 27125 broad.mit.edu 37 5 132233979 132233979 + Missense_Mutation SNP A C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:132233979A>C uc003kyd.2 - 10 1740 c.1332T>G c.(1330-1332)AGT>AGG p.S444R AFF4_uc011cxk.1_Missense_Mutation_p.S122R|AFF4_uc003kye.1_Missense_Mutation_p.S444R NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 444 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AACTACTTTCACTCTCTGAGT 0.522 57 205 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140801374 140801374 + Nonsense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:140801374G>T uc003lkq.1 + 1 838 c.580G>T c.(580-582)GAG>TAG p.E194* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.E194*|PCDHGA11_uc003lkp.1_Nonsense_Mutation_p.E194* NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 194 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGAATCCAGAGCTAGTACT 0.562 18 72 --- --- --- --- PASS RELL2 285613 broad.mit.edu 37 5 141019704 141019704 + Nonsense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:141019704G>T uc003lli.2 + 6 1569 c.721G>T c.(721-723)GGA>TGA p.G241* RELL2_uc003llh.2_Nonsense_Mutation_p.G241*|RELL2_uc003llg.2_Nonsense_Mutation_p.G175*|RELL2_uc010jgf.2_Nonsense_Mutation_p.G175*|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR NM_001130029 NP_001123501 Q8NC24 RELL2_HUMAN RELT-like 2 241 integral to membrane|plasma membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGAATGGAGGACTCAGGGA 0.667 4 82 --- --- --- --- PASS CSF1R 1436 broad.mit.edu 37 5 149441342 149441342 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:149441342G>A uc003lrl.2 - 11 1892 c.1697C>T c.(1696-1698)CCC>CTC p.P566L CSF1R_uc011dcd.1_Missense_Mutation_p.P418L|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.P566L NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 566 Cytoplasmic (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CAGCTGCGTGGGGTCGATGAA 0.552 91 216 --- --- --- --- PASS FAM71B 153745 broad.mit.edu 37 5 156593032 156593032 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:156593032T>A uc003lwn.2 - 1 248 c.148A>T c.(148-150)AAT>TAT p.N50Y NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 50 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGAATAAAATTACTCTCGAAC 0.458 96 310 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169230202 169230202 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:169230202C>A uc003maf.2 + 26 2775 c.2695C>A c.(2695-2697)CAG>AAG p.Q899K DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Q391K NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 899 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTTAGCTACCAGGATGCGGT 0.478 70 112 --- --- --- --- PASS DUSP22 56940 broad.mit.edu 37 6 348265 348265 + Missense_Mutation SNP G T T rs143018862 TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr6:348265G>T uc003msx.2 + 6 865 c.426G>T c.(424-426)GAG>GAT p.E142D DUSP22_uc011dhn.1_Missense_Mutation_p.E142D|DUSP22_uc003msy.1_Missense_Mutation_p.E99D NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 142 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) AGAAGCATGAGGTCCATCAGG 0.582 25 303 --- --- --- --- PASS OR11A1 26531 broad.mit.edu 37 6 29395006 29395006 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr6:29395006C>A uc003nmg.2 - 1 504 c.413G>T c.(412-414)GGG>GTG p.G138V NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCGTCTGGGCCCCATCAGGAG 0.577 69 59 --- --- --- --- PASS NFKBIL1 4795 broad.mit.edu 37 6 31526324 31526324 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr6:31526324G>T uc003nub.2 + 4 1201 c.1082G>T c.(1081-1083)CGT>CTT p.R361L NFKBIL1_uc011dnr.1_Missense_Mutation_p.R323L|NFKBIL1_uc011dns.1_Missense_Mutation_p.R338L|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.R346L NM_005007 NP_004998 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene 361 cytoplasmic sequestering of transcription factor protein binding 0 GAGCTGGGCCGTGTGATGGGA 0.617 7 3 --- --- --- --- PASS WDR46 9277 broad.mit.edu 37 6 33256237 33256237 + Missense_Mutation SNP G A A rs34704405 TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr6:33256237G>A uc003ods.2 - 4 415 c.371C>T c.(370-372)TCT>TTT p.S124F WDR46_uc011dra.1_Missense_Mutation_p.S70F|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank NM_005452 NP_005443 O15213 WDR46_HUMAN WD repeat domain 46 isoform 1 124 0 TTTGGCTTTAGAATGTGGTAG 0.512 230 188 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50696583 50696583 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr6:50696583G>T uc003paf.2 + 4 1125 c.613G>T c.(613-615)GTC>TTC p.V205F TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 205 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CACCTGTGTGGTCAACCCCAC 0.438 147 132 --- --- --- --- PASS ANKRD6 22881 broad.mit.edu 37 6 90323537 90323537 + Silent SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr6:90323537T>A uc003pni.3 + 7 884 c.543T>A c.(541-543)GCT>GCA p.A181A ANKRD6_uc003pne.3_Silent_p.A181A|ANKRD6_uc003pnf.3_Silent_p.A181A|ANKRD6_uc011dzy.1_Silent_p.A181A|ANKRD6_uc010kcd.2_Silent_p.A148A|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 181 ANK 6. protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) TGCACGTTGCTGCGCGCTATA 0.433 26 43 --- --- --- --- PASS MOXD1 26002 broad.mit.edu 37 6 132649614 132649614 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr6:132649614G>C uc003qdf.2 - 5 882 c.783C>G c.(781-783)AAC>AAG p.N261K MOXD1_uc003qde.2_Missense_Mutation_p.N193K NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 261 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) CATCGGGCATGTTGGGGTGAT 0.502 42 88 --- --- --- --- PASS LATS1 9113 broad.mit.edu 37 6 149983278 149983278 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr6:149983278C>T uc003qmu.1 - 8 3528 c.2980G>A c.(2980-2982)GAT>AAT p.D994N LATS1_uc010kif.1_Missense_Mutation_p.D889N NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 994 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) CCTAAGCGATCTTCGGGTCCT 0.403 6 287 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152770762 152770762 + Nonsense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr6:152770762G>C uc010kiw.2 - 28 4012 c.3410C>G c.(3409-3411)TCA>TGA p.S1137* SYNE1_uc003qot.3_Nonsense_Mutation_p.S1144*|SYNE1_uc003qou.3_Nonsense_Mutation_p.S1137*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.S1120*|SYNE1_uc003qow.2_Nonsense_Mutation_p.S432*|SYNE1_uc003qox.1_Nonsense_Mutation_p.S653* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1137 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATCCAAGATGAGAACTCAGA 0.383 HNSCC(10;0.0054) 6 135 --- --- --- --- PASS PRR18 285800 broad.mit.edu 37 6 166720810 166720810 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr6:166720810T>A uc003quw.1 - 1 1062 c.821A>T c.(820-822)GAG>GTG p.E274V NM_175922 NP_787118 Q8N4B5 PRR18_HUMAN proline rich region 18 274 endoplasmic reticulum 0 Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959) OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05) agccgcggACTCCACGCCGCG 0.582 4 7 --- --- --- --- PASS CALN1 83698 broad.mit.edu 37 7 71743773 71743773 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr7:71743773C>A uc003twa.3 - 2 543 c.16G>T c.(16-18)GTG>TTG p.V6L CALN1_uc003twb.3_Missense_Mutation_p.V48L|CALN1_uc003twc.3_Missense_Mutation_p.V6L NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 6 Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CCGGCGGTCACATGGTGGAAC 0.507 16 78 --- --- --- --- PASS ADAM22 53616 broad.mit.edu 37 7 87792420 87792420 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr7:87792420G>T uc003ujn.2 + 23 2080 c.2001G>T c.(1999-2001)AGG>AGT p.R667S ADAM22_uc003ujk.1_Missense_Mutation_p.R667S|ADAM22_uc003ujl.1_Missense_Mutation_p.R667S|ADAM22_uc003ujm.2_Missense_Mutation_p.R667S|ADAM22_uc003ujo.2_Missense_Mutation_p.R667S|ADAM22_uc003ujp.1_Missense_Mutation_p.R719S NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 667 Cys-rich.|Extracellular (Potential). 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) TAGAACACAGGTGTCTTCCTG 0.428 83 262 --- --- --- --- PASS ASNS 440 broad.mit.edu 37 7 97486048 97486048 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr7:97486048T>C uc003uot.3 - 8 1490 c.984A>G c.(982-984)ATA>ATG p.I328M ASNS_uc011kin.1_Missense_Mutation_p.I245M|ASNS_uc003uou.3_Missense_Mutation_p.I328M|ASNS_uc003uov.3_Missense_Mutation_p.I328M|ASNS_uc011kio.1_Missense_Mutation_p.I307M|ASNS_uc003uow.3_Missense_Mutation_p.I307M|ASNS_uc003uox.3_Missense_Mutation_p.I245M NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 328 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAAGGAAAATATGACTTCAT 0.308 51 174 --- --- --- --- PASS LRCH4 4034 broad.mit.edu 37 7 100183504 100183504 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr7:100183504C>T uc003uvj.2 - 1 273 c.220G>A c.(220-222)GAC>AAC p.D74N LRCH4_uc003uvi.2_5'Flank|LRCH4_uc011kjx.1_RNA|FBXO24_uc010lha.1_5'Flank|FBXO24_uc003uvl.1_5'Flank|FBXO24_uc003uvm.1_5'Flank|FBXO24_uc003uvn.1_5'Flank NM_002319 NP_002310 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) 74 LRR 2. nervous system development PML body protein binding large_intestine(1)|ovary(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTGCACTCACCAGCCTGGGTG 0.552 3 60 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100349596 100349596 + Nonsense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr7:100349596C>G uc003uwj.2 + 14 2033 c.1868C>G c.(1867-1869)TCA>TGA p.S623* ZAN_uc003uwk.2_Nonsense_Mutation_p.S623*|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 623 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCATTCCCTCAGAAAAACCC 0.478 37 111 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126544029 126544029 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr7:126544029C>G uc003vlr.2 - 4 1326 c.1015G>C c.(1015-1017)GAT>CAT p.D339H GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.D339H|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.D60H NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 339 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TTCTTACCATCAATTGATGCT 0.408 HNSCC(24;0.065) 55 315 --- --- --- --- PASS LRGUK 136332 broad.mit.edu 37 7 133884059 133884059 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr7:133884059C>T uc003vrm.1 + 14 1649 c.1633C>T c.(1633-1635)CGG>TGG p.R545W NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 545 Guanylate kinase-like. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 GGGATATTTGCGGAGAAAAGG 0.358 6 425 --- --- --- --- PASS OR2F2 135948 broad.mit.edu 37 7 143632899 143632899 + Missense_Mutation SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr7:143632899A>G uc011ktv.1 + 1 574 c.574A>G c.(574-576)ACC>GCC p.T192A NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) TTGTGTGGACACCTCCTCCAA 0.493 26 89 --- --- --- --- PASS OR6B1 135946 broad.mit.edu 37 7 143701878 143701878 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr7:143701878C>G uc003wdt.1 + 1 789 c.789C>G c.(787-789)ATC>ATG p.I263M NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) CTCGAGTTATCCATGCCTTCA 0.428 81 240 --- --- --- --- PASS RHEB 6009 broad.mit.edu 37 7 151181828 151181828 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr7:151181828C>A uc003wkh.1 - 3 600 c.187G>T c.(187-189)GGG>TGG p.G63W NM_005614 NP_005605 Q15382 RHEB_HUMAN Ras homolog enriched in brain precursor 63 cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|metal ion binding|protein binding large_intestine(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) CTTACTTGCCCGGCTGTGTCT 0.358 36 100 --- --- --- --- PASS RGS20 8601 broad.mit.edu 37 8 54791911 54791911 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:54791911T>A uc003xrp.2 + 2 351 c.259T>A c.(259-261)TCT>ACT p.S87T RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank NM_170587 NP_733466 O76081 RGS20_HUMAN regulator of G-protein signaling 20 isoform a 87 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) AAGGTTCTTCTCTCACCTTCT 0.711 93 299 --- --- --- --- PASS ARFGEF1 10565 broad.mit.edu 37 8 68184115 68184115 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:68184115T>C uc003xxo.1 - 10 1784 c.1394A>G c.(1393-1395)CAG>CGG p.Q465R NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 465 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TCCTGCATTCTGCAGAATGGA 0.358 30 81 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71069128 71069128 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:71069128C>T uc003xyn.1 - 11 1634 c.1472G>A c.(1471-1473)CGC>CAC p.R491H NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 491 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGGGCTCATGCGATGCCTTGG 0.567 T RUNXBP2 AML 42 117 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77764395 77764395 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:77764395G>A uc003yav.2 + 10 5490 c.5103G>A c.(5101-5103)ACG>ACA p.T1701T ZFHX4_uc003yau.1_Silent_p.T1746T|ZFHX4_uc003yaw.1_Silent_p.T1701T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1701 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TACCTGGGACGGAGTTCAGCT 0.507 HNSCC(33;0.089) 32 74 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113347704 113347704 + Splice_Site SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:113347704C>T uc003ynu.2 - 45 7179 c.7020_splice c.e45-1 p.W2340_splice CSMD3_uc003yns.2_Splice_Site_p.W1542_splice|CSMD3_uc003ynt.2_Splice_Site_p.W2300_splice|CSMD3_uc011lhx.1_Splice_Site_p.W2236_splice|CSMD3_uc003ynw.1_Splice_Site_p.W51_splice NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGGTCCATCCCTATGAGACAA 0.368 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 87 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113529362 113529362 + Nonsense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:113529362G>A uc003ynu.2 - 28 4816 c.4657C>T c.(4657-4659)CAA>TAA p.Q1553* CSMD3_uc003yns.2_Nonsense_Mutation_p.Q825*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Q1513*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Q1449* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1553 Extracellular (Potential).|Sushi 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGGTCACATTGAAAAACAACA 0.498 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 137 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133150232 133150232 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:133150232A>T uc003ytj.2 - 12 1825 c.1600T>A c.(1600-1602)TTC>ATC p.F534I KCNQ3_uc010mdt.2_Missense_Mutation_p.F534I NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 534 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTCTCCTTGAATTTTTTTTTA 0.453 54 169 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133948102 133948102 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:133948102G>C uc003ytw.2 + 25 5075 c.5034G>C c.(5032-5034)TTG>TTC p.L1678F TG_uc010mdw.2_Missense_Mutation_p.L437F|TG_uc011ljb.1_Missense_Mutation_p.L111F NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1678 Type IIIA. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTGTGTATTTGAAAAAGGGTA 0.547 24 59 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139255189 139255189 + Nonsense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:139255189G>T uc003yuy.2 - 7 836 c.665C>A c.(664-666)TCA>TAA p.S222* FAM135B_uc003yux.2_Nonsense_Mutation_p.S123*|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 222 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCTTACCTCTGAGGAAGTCGG 0.463 HNSCC(54;0.14) 22 120 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143614677 143614677 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:143614677C>T uc003ywm.2 + 24 3603 c.3420C>T c.(3418-3420)TGC>TGT p.C1140C NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1140 Helical; Name=6; (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGAGCTCCTGCGTGGTGCTGC 0.701 4 3 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143960554 143960554 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:143960554C>A uc003yxi.2 - 2 296 c.289G>T c.(289-291)GTG>TTG p.V97L CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.V97L|CYP11B1_uc010mey.2_Missense_Mutation_p.V142L NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 97 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AGCTTCTCCACGTCCTCCGGC 0.622 Familial_Hyperaldosteronism_type_I 39 103 --- --- --- --- PASS ZNF696 79943 broad.mit.edu 37 8 144378669 144378669 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr8:144378669G>T uc003yxy.3 + 3 1233 c.824G>T c.(823-825)AGC>ATC p.S275I NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 275 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CAGGCCTTCAGCCAGAGCTCC 0.711 6 18 --- --- --- --- PASS DMRT3 58524 broad.mit.edu 37 9 990423 990423 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr9:990423G>A uc003zgw.1 + 2 875 c.837G>A c.(835-837)GTG>GTA p.V279V NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 279 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GGGACCTGGTGAGCGCCGTGG 0.572 50 54 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32633641 32633641 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr9:32633641G>T uc003zrg.1 - 1 2027 c.1937C>A c.(1936-1938)GCA>GAA p.A646E uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 646 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) CTGAGAGAGTGCACCAAATGA 0.507 130 110 --- --- --- --- PASS TMC1 117531 broad.mit.edu 37 9 75403364 75403364 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr9:75403364G>T uc004aiz.1 + 14 1534 c.994G>T c.(994-996)GAC>TAC p.D332Y TMC1_uc010moz.1_Missense_Mutation_p.D290Y|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.D186Y|TMC1_uc010mpa.1_Missense_Mutation_p.D186Y NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 332 Cytoplasmic (Potential). sensory perception of sound integral to membrane ovary(1) 1 TGAAACAGCAGACAACAAATT 0.398 95 76 --- --- --- --- PASS UBQLN1 29979 broad.mit.edu 37 9 86278932 86278932 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr9:86278932C>T uc004amv.2 - 10 2049 c.1475G>A c.(1474-1476)GGA>GAA p.G492E UBQLN1_uc004amw.2_Missense_Mutation_p.G464E NM_013438 NP_038466 Q9UMX0 UBQL1_HUMAN ubiquilin 1 isoform 1 492 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding 0 TCCAGTGCTTCCTAATGCCCC 0.468 75 200 --- --- --- --- PASS C9orf89 84270 broad.mit.edu 37 9 95872921 95872921 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr9:95872921G>A uc004atd.2 + 3 400 c.222G>A c.(220-222)GAG>GAA p.E74E C9orf89_uc004ate.2_RNA|C9orf89_uc004atf.2_RNA NM_032310 NP_115686 Q96LW7 BINCA_HUMAN chromosome 9 open reading frame 89 74 CARD. negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding 0 GGAGCGGTGAGCGGGACTGCC 0.502 73 85 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101797359 101797359 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr9:101797359G>T uc004azb.1 + 18 2349 c.2143G>T c.(2143-2145)GGG>TGG p.G715W NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 715 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TGGCCCTCCTGGGGTCATGGG 0.617 98 85 --- --- --- --- PASS RGS3 5998 broad.mit.edu 37 9 116269689 116269689 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr9:116269689C>T uc004bhq.2 + 14 1417 c.1208C>T c.(1207-1209)CCC>CTC p.P403L RGS3_uc004bhr.2_Missense_Mutation_p.P291L|RGS3_uc004bhs.2_Missense_Mutation_p.P293L|RGS3_uc004bht.2_Missense_Mutation_p.P122L|RGS3_uc010muy.2_Missense_Mutation_p.P122L|RGS3_uc004bhu.2_Missense_Mutation_p.P29L NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 403 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 CAGTCACCCCCCAACAAACGG 0.647 14 80 --- --- --- --- PASS WDR34 89891 broad.mit.edu 37 9 131396147 131396147 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr9:131396147T>C uc004bvq.1 - 9 1611 c.1487A>G c.(1486-1488)CAG>CGG p.Q496R WDR34_uc004bvs.1_Missense_Mutation_p.Q487R|WDR34_uc004bvr.1_Missense_Mutation_p.Q468R NM_052844 NP_443076 Q96EX3 WDR34_HUMAN WD repeat domain 34 496 WD 5. cytoplasm central_nervous_system(2)|skin(1) 3 AGCCAAGAGCTGAGTCTGCTG 0.562 4 128 --- --- --- --- PASS PFKP 5214 broad.mit.edu 37 10 3147652 3147652 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:3147652G>C uc001igp.2 + 7 769 c.733G>C c.(733-735)GAG>CAG p.E245Q PFKP_uc001igq.2_Missense_Mutation_p.E237Q|PFKP_uc009xhr.2_Missense_Mutation_p.E207Q|PFKP_uc009xhs.1_Missense_Mutation_p.E29Q|PFKP_uc009xht.2_5'Flank NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 245 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) ATCTCCACCAGAGGAAGGCTG 0.582 69 204 --- --- --- --- PASS GATA3 2625 broad.mit.edu 37 10 8100379 8100379 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:8100379C>T uc001ika.2 + 3 910 c.353C>T c.(352-354)TCC>TTC p.S118F GATA3_uc001ijz.2_Missense_Mutation_p.S118F NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 118 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 AGCCCCTTCTCCAAGACGTCC 0.706 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 34 152 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15688891 15688891 + Silent SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:15688891A>G uc001ioc.1 - 12 1161 c.1161T>C c.(1159-1161)GGT>GGC p.G387G ITGA8_uc010qcb.1_Silent_p.G372G NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 387 Extracellular (Potential).|FG-GAP 6. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CCATAGCACTACCGAATCTCC 0.473 28 71 --- --- --- --- PASS ARMC4 55130 broad.mit.edu 37 10 28274056 28274056 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:28274056T>A uc009xky.2 - 4 565 c.467A>T c.(466-468)AAA>ATA p.K156I ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Missense_Mutation_p.K156I NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 156 binding ovary(4)|skin(2) 6 TCTGGTAATTTTGCCAAGAAT 0.338 10 25 --- --- --- --- PASS BMS1 9790 broad.mit.edu 37 10 43316087 43316087 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:43316087G>A uc001jaj.2 + 17 3259 c.2901G>A c.(2899-2901)AGG>AGA p.R967R NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 967 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GAAGACAAAGGCTTCTAAAGT 0.428 47 154 --- --- --- --- PASS GPRIN2 9721 broad.mit.edu 37 10 46999128 46999128 + Missense_Mutation SNP G C C rs149580948 TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:46999128G>C uc001jec.2 + 3 383 c.248G>C c.(247-249)CGA>CCA p.R83P GPRIN2_uc010qfq.1_5'Flank NM_014696 NP_055511 O60269 GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 83 0 CCCAAGGCGCGACCCAGTGCT 0.697 8 74 --- --- --- --- PASS OGDHL 55753 broad.mit.edu 37 10 50946033 50946033 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:50946033T>A uc001jie.2 - 19 2619 c.2477A>T c.(2476-2478)CAC>CTC p.H826L OGDHL_uc009xog.2_Missense_Mutation_p.H853L|OGDHL_uc010qgt.1_Missense_Mutation_p.H769L|OGDHL_uc010qgu.1_Missense_Mutation_p.H617L NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 826 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GCGCAGCACGTGGAAGTAGTT 0.642 119 308 --- --- --- --- PASS TTC18 118491 broad.mit.edu 37 10 75113480 75113480 + Silent SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:75113480A>G uc009xrc.2 - 3 205 c.84T>C c.(82-84)ACT>ACC p.T28T TTC18_uc001jty.2_Silent_p.T28T|TTC18_uc009xrd.1_5'UTR NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 28 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) AGGTAACTGGAGTATCTCCTT 0.363 26 105 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89717708 89717708 + Nonsense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:89717708C>T uc001kfb.2 + 8 1764 c.733C>T c.(733-735)CAG>TAG p.Q245* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 245 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.Q245*(6)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(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) TGAGTTCCCTCAGCCGTTACC 0.418 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) 63 103 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106907400 106907400 + Missense_Mutation SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:106907400A>G uc001kyi.1 + 9 1555 c.1328A>G c.(1327-1329)GAG>GGG p.E443G NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 443 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGTACAGACGAGAACCAAGTA 0.478 38 94 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106976840 106976840 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr10:106976840C>A uc001kyi.1 + 19 2921 c.2694C>A c.(2692-2694)AAC>AAA p.N898K SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 898 PKD.|Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAGAGAACAACCTTGGCTCAG 0.527 49 117 --- --- --- --- PASS IGF2AS 51214 broad.mit.edu 37 11 2167571 2167571 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:2167571C>T uc010qxi.1 + 2 538 c.401C>T c.(400-402)CCG>CTG p.P134L IGF2_uc001lvh.2_Intron|INS-IGF2_uc001lvi.2_Intron|IGF2AS_uc001lvk.1_RNA|IGF2AS_uc001lvl.1_Intron NM_016412 NP_057496 RecName: Full=Putative insulin-like growth factor 2 antisense gene protein; Short=IGF2-AS; AltName: Full=PEG8/IGF2AS protein; 0 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00388)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AGCGCCCCTCCGTCACCCCCT 0.687 73 151 --- --- --- --- PASS OR52N2 390077 broad.mit.edu 37 11 5841948 5841948 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:5841948T>C uc010qzp.1 + 1 383 c.383T>C c.(382-384)ATC>ACC p.I128T TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATGTGGCCATCTGCTACCCC 0.542 65 150 --- --- --- --- PASS ZNF215 7762 broad.mit.edu 37 11 6964374 6964374 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:6964374G>T uc001mey.2 + 5 1132 c.544G>T c.(544-546)GAC>TAC p.D182Y ZNF215_uc010raw.1_Intron|ZNF215_uc010rax.1_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.D182Y NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 182 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) GGGGCAACTGGACTCTGCTGT 0.403 97 298 --- --- --- --- PASS INSC 387755 broad.mit.edu 37 11 15260621 15260621 + Splice_Site SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:15260621G>C uc001mly.2 + 11 1580 c.1534_splice c.e11+1 p.C512_splice INSC_uc001mlz.2_Splice_Site_p.C465_splice|INSC_uc001mma.2_Splice_Site_p.C465_splice|INSC_uc010rcs.1_Splice_Site_p.C500_splice|INSC_uc001mmb.2_Splice_Site_p.C465_splice|INSC_uc001mmc.2_Splice_Site_p.C423_splice NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 CGGCTCAGCTGTGAGTGGTGC 0.617 23 77 --- --- --- --- PASS TTC17 55761 broad.mit.edu 37 11 43423094 43423094 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:43423094G>A uc001mxi.2 + 10 1332 c.1318G>A c.(1318-1320)GTG>ATG p.V440M TTC17_uc001mxh.2_Missense_Mutation_p.V440M|TTC17_uc010rfj.1_Missense_Mutation_p.V383M|TTC17_uc001mxj.2_Missense_Mutation_p.V210M NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 440 binding ovary(5) 5 CTTTGAAAATGTGGACTATGT 0.373 13 46 --- --- --- --- PASS EXT2 2132 broad.mit.edu 37 11 44255735 44255735 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:44255735G>T uc001mxz.2 + 12 2211 c.1877G>T c.(1876-1878)TGT>TTT p.C626F EXT2_uc010rfo.1_Missense_Mutation_p.C654F|EXT2_uc001mxy.2_Missense_Mutation_p.C639F|EXT2_uc009ykt.2_Missense_Mutation_p.C636F|EXT2_uc001mya.2_Missense_Mutation_p.C659F NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 626 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 CATATGAACTGTGAAGATATT 0.333 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 26 105 --- --- --- --- PASS NUP160 23279 broad.mit.edu 37 11 47857309 47857309 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:47857309T>A uc001ngm.2 - 7 1080 c.995A>T c.(994-996)AAA>ATA p.K332I NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 332 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 CCGAAGGTCTTTCTTCACAGG 0.458 106 229 --- --- --- --- PASS OR4A47 403253 broad.mit.edu 37 11 48511193 48511193 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:48511193A>T uc010rhx.1 + 1 849 c.849A>T c.(847-849)TTA>TTT p.L283F NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGAACCCCTTAATCTACACTC 0.408 151 438 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433289 55433289 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:55433289A>T uc001nht.3 + 3 912 c.647A>T c.(646-648)TAC>TTC p.Y216F OR4C6_uc010rik.1_Missense_Mutation_p.Y216F NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 ATTGCGTCCTACACGGTCATC 0.512 91 232 --- --- --- --- PASS OR8K5 219453 broad.mit.edu 37 11 55927467 55927467 + Silent SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:55927467G>T uc010rja.1 - 1 327 c.327C>A c.(325-327)ATC>ATA p.I109I NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) AAAATTCACTGATAATGAACA 0.418 80 228 --- --- --- --- PASS MS4A2 2206 broad.mit.edu 37 11 59860957 59860957 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:59860957A>T uc001nop.2 + 5 565 c.463A>T c.(463-465)AGC>TGC p.S155C MS4A2_uc009ymu.2_Missense_Mutation_p.S155C NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 155 Extracellular (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) CCTGAAGAAGAGCTTGGCCTA 0.443 85 226 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62290332 62290332 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:62290332C>T uc001ntl.2 - 5 11857 c.11557G>A c.(11557-11559)GAG>AAG p.E3853K AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3853 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AACTTTCCCTCTGGGCCTTCG 0.493 237 524 --- --- --- --- PASS SAPS3 55291 broad.mit.edu 37 11 68337285 68337285 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:68337285C>T uc001onw.2 + 11 1465 c.1198C>T c.(1198-1200)CTT>TTT p.L400F SAPS3_uc001onv.2_Missense_Mutation_p.L400F|SAPS3_uc001ony.3_Missense_Mutation_p.L400F|SAPS3_uc001onx.2_Missense_Mutation_p.L400F|SAPS3_uc009ysh.2_Missense_Mutation_p.L349F|SAPS3_uc001onu.2_Missense_Mutation_p.L349F|SAPS3_uc010rqc.1_Missense_Mutation_p.L168F|SAPS3_uc010rqd.1_Missense_Mutation_p.L112F NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 400 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) TGCACTGATTCTTGCAAGTCC 0.328 96 258 --- --- --- --- PASS GAB2 9846 broad.mit.edu 37 11 77936216 77936216 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:77936216G>C uc001ozh.2 - 5 1240 c.1240C>G c.(1240-1242)CGT>GGT p.R414G GAB2_uc001ozg.2_Missense_Mutation_p.R376G NM_080491 NP_536739 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 isoform a 414 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity ovary(5)|lung(1) 6 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TCTCCACCACGCTGTGGGTAC 0.532 21 95 --- --- --- --- PASS C11orf54 28970 broad.mit.edu 37 11 93494771 93494771 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:93494771G>A uc009ywi.2 + 10 1196 c.865G>A c.(865-867)GAA>AAA p.E289K C11orf54_uc001pef.2_Missense_Mutation_p.E239K|C11orf54_uc001peg.2_Missense_Mutation_p.E289K|C11orf54_uc001peh.2_Missense_Mutation_p.E289K|C11orf54_uc001pei.2_Missense_Mutation_p.E270K|C11orf54_uc001pej.2_Missense_Mutation_p.E270K|C11orf54_uc001pek.2_Missense_Mutation_p.E178K NM_014039 NP_054758 Q9H0W9 CK054_HUMAN hypothetical protein LOC28970 289 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGATATAGTGGAATATCTTGG 0.398 15 268 --- --- --- --- PASS HEPHL1 341208 broad.mit.edu 37 11 93822054 93822054 + Silent SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:93822054C>A uc001pep.2 + 12 2371 c.2214C>A c.(2212-2214)GCC>GCA p.A738A uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 738 Plastocyanin-like 5.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TTTACATCGCCGCTGAAGAAG 0.532 51 152 --- --- --- --- PASS AASDHPPT 60496 broad.mit.edu 37 11 105962125 105962125 + Nonsense_Mutation SNP T G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:105962125T>G uc001pjc.1 + 4 760 c.614T>G c.(613-615)TTA>TGA p.L205* AASDHPPT_uc010rvn.1_RNA|AASDHPPT_uc001pjd.1_Nonsense_Mutation_p.L58* NM_015423 NP_056238 Q9NRN7 ADPPT_HUMAN aminoadipate-semialdehyde 205 macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding 0 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) CTATCTCCATTAAACTTGGAT 0.363 64 229 --- --- --- --- PASS OR8B2 26595 broad.mit.edu 37 11 124253009 124253009 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:124253009G>T uc010sai.1 - 1 231 c.231C>A c.(229-231)TTC>TTA p.F77L OR8B2_uc001qab.3_RNA NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 77 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TTTTGGGAGTGAAAACAGAGG 0.388 82 289 --- --- --- --- PASS NCAPD3 23310 broad.mit.edu 37 11 134038017 134038017 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr11:134038017G>A uc001qhd.1 - 27 4053 c.3447C>T c.(3445-3447)CTC>CTT p.L1149L NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Silent_p.L99L NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1149 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CCTTTGAGCTGAGGACCTCAA 0.488 71 188 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2774864 2774864 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:2774864C>T uc009zdu.1 + 38 4973 c.4660C>T c.(4660-4662)CCT>TCT p.P1554S CACNA1C_uc009zdv.1_Missense_Mutation_p.P1503S|CACNA1C_uc001qkb.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkc.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qke.2_Missense_Mutation_p.P1495S|CACNA1C_uc001qkf.2_Missense_Mutation_p.P1495S|CACNA1C_uc001qjz.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkd.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkg.2_Missense_Mutation_p.P1493S|CACNA1C_uc009zdw.1_Missense_Mutation_p.P1528S|CACNA1C_uc001qkh.2_Missense_Mutation_p.P1495S|CACNA1C_uc001qkl.2_Missense_Mutation_p.P1554S|CACNA1C_uc001qkn.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qko.2_Missense_Mutation_p.P1526S|CACNA1C_uc001qkp.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkr.2_Missense_Mutation_p.P1523S|CACNA1C_uc001qku.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkq.2_Missense_Mutation_p.P1534S|CACNA1C_uc001qks.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkt.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qki.1_Missense_Mutation_p.P1242S|CACNA1C_uc001qkj.1_Missense_Mutation_p.P1242S|CACNA1C_uc001qkk.1_Missense_Mutation_p.P1242S|CACNA1C_uc001qkm.1_Missense_Mutation_p.P1231S|CACNA1C_uc010sea.1_Missense_Mutation_p.P197S NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1554 Cytoplasmic (Potential).|By similarity. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGAGTATGACCCTGAAGCCAA 0.517 17 64 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2788854 2788854 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:2788854C>A uc009zdu.1 + 44 5793 c.5480C>A c.(5479-5481)CCT>CAT p.P1827H CACNA1C_uc009zdv.1_Missense_Mutation_p.P1776H|CACNA1C_uc001qkb.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qkc.2_Missense_Mutation_p.P1798H|CACNA1C_uc001qke.2_Missense_Mutation_p.P1768H|CACNA1C_uc001qkf.2_Missense_Mutation_p.P1787H|CACNA1C_uc001qjz.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qkd.2_Missense_Mutation_p.P1798H|CACNA1C_uc001qkg.2_Missense_Mutation_p.P1785H|CACNA1C_uc009zdw.1_Missense_Mutation_p.P1820H|CACNA1C_uc001qkh.2_Missense_Mutation_p.P1787H|CACNA1C_uc001qkl.2_Missense_Mutation_p.P1827H|CACNA1C_uc001qkn.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qko.2_Missense_Mutation_p.P1799H|CACNA1C_uc001qkp.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qkr.2_Missense_Mutation_p.P1796H|CACNA1C_uc001qku.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qkq.2_Missense_Mutation_p.P1807H|CACNA1C_uc001qks.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qkt.2_Missense_Mutation_p.P1798H|CACNA1C_uc001qki.1_Missense_Mutation_p.P1515H|CACNA1C_uc001qkj.1_Missense_Mutation_p.P1515H|CACNA1C_uc001qkk.1_Missense_Mutation_p.P1515H|CACNA1C_uc001qkm.1_Missense_Mutation_p.P1504H|CACNA1C_uc010sea.1_Missense_Mutation_p.P470H|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.P97H NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1827 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGTCGCCTCCCTCGCCCCGCC 0.682 13 10 --- --- --- --- PASS KCNA6 3742 broad.mit.edu 37 12 4920492 4920492 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:4920492T>A uc001qng.2 + 1 2151 c.1285T>A c.(1285-1287)TAC>AAC p.Y429N NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 429 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CGGGGACATGTACCCCATGAC 0.582 HNSCC(72;0.22) 59 149 --- --- --- --- PASS MANSC1 54682 broad.mit.edu 37 12 12483728 12483728 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:12483728C>T uc001rai.1 - 4 787 c.529G>A c.(529-531)GGA>AGA p.G177R MANSC1_uc010shm.1_Missense_Mutation_p.G111R|MANSC1_uc001raj.1_Missense_Mutation_p.G143R|MANSC1_uc009zht.1_Missense_Mutation_p.G96R NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 177 Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) TCTGAGGATCCAAACTTCTGA 0.433 54 162 --- --- --- --- PASS SENP1 29843 broad.mit.edu 37 12 48458880 48458880 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:48458880C>G uc001rqx.2 - 12 1689 c.1243G>C c.(1243-1245)GAT>CAT p.D415H SENP1_uc001rqw.2_Missense_Mutation_p.D415H|SENP1_uc001rqy.2_Missense_Mutation_p.D216H|SENP1_uc001rqz.2_Missense_Mutation_p.D216H|SENP1_uc009zkx.2_Missense_Mutation_p.D415H NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 415 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TCTTCACTATCAGTTAATTTA 0.333 15 53 --- --- --- --- PASS KCNH3 23416 broad.mit.edu 37 12 49948271 49948271 + Silent SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:49948271G>T uc001ruh.1 + 11 2330 c.2070G>T c.(2068-2070)CCG>CCT p.P690P KCNH3_uc010smj.1_Silent_p.P630P NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 690 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 AGTTTGCCCCGCGCTTCAGTC 0.642 52 164 --- --- --- --- PASS NEUROD4 58158 broad.mit.edu 37 12 55421134 55421134 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:55421134G>A uc001sgp.3 + 2 1289 c.911G>A c.(910-912)CGT>CAT p.R304H NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 304 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 GGTACCCCCCGTTATGATGTT 0.458 249 666 --- --- --- --- PASS LRRC10 376132 broad.mit.edu 37 12 70004126 70004126 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:70004126G>A uc001svc.2 - 1 817 c.493C>T c.(493-495)CGC>TGC p.R165C NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 165 LRR 5. nucleus 0 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TCCTGGAGGCGCCGGAGCTGG 0.612 28 86 --- --- --- --- PASS SYT1 6857 broad.mit.edu 37 12 79747301 79747301 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:79747301T>C uc001sys.2 + 10 1501 c.830T>C c.(829-831)ATC>ACC p.I277T SYT1_uc001syt.2_Missense_Mutation_p.I277T|SYT1_uc001syu.2_Missense_Mutation_p.I274T|SYT1_uc001syv.2_Missense_Mutation_p.I277T NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 277 Cytoplasmic (Potential).|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 TTGGGTGATATCTGCTTCTCC 0.373 116 320 --- --- --- --- PASS DCN 1634 broad.mit.edu 37 12 91550874 91550874 + Silent SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:91550874G>T uc001tbs.2 - 4 724 c.630C>A c.(628-630)ACC>ACA p.T210T DCN_uc001tbo.2_Silent_p.T101T|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Silent_p.T210T|DCN_uc001tbu.2_Silent_p.T210T NM_133503 NP_598010 P07585 PGS2_HUMAN decorin isoform a preproprotein 210 LRR 6. organ morphogenesis extracellular space central_nervous_system(2)|ovary(1)|lung(1) 4 TGGTGATATTGGTATCAGCAA 0.373 5 309 --- --- --- --- PASS METAP2 10988 broad.mit.edu 37 12 95907432 95907432 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:95907432C>T uc001tec.2 + 11 1323 c.1189C>T c.(1189-1191)CCA>TCA p.P397S METAP2_uc010suv.1_Missense_Mutation_p.P374S|METAP2_uc009ztd.2_Missense_Mutation_p.P361S|METAP2_uc001ted.2_Missense_Mutation_p.P396S|METAP2_uc001tef.2_Missense_Mutation_p.P374S|METAP2_uc001tee.2_RNA NM_006838 NP_006829 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 397 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 L-Methionine(DB00134) TCTTAGGCTTCCAAGAACAAA 0.408 56 169 --- --- --- --- PASS NTN4 59277 broad.mit.edu 37 12 96076537 96076537 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:96076537C>T uc001tei.2 - 7 1905 c.1456G>A c.(1456-1458)GAA>AAA p.E486K NTN4_uc009ztf.2_Missense_Mutation_p.E486K|NTN4_uc009ztg.2_Missense_Mutation_p.E449K NM_021229 NP_067052 Q9HB63 NET4_HUMAN netrin 4 precursor 486 axon guidance basement membrane|plasma membrane upper_aerodigestive_tract(1)|ovary(1) 2 CAGGCTGGTTCGCTCTTATTG 0.458 56 109 --- --- --- --- PASS GAS2L3 283431 broad.mit.edu 37 12 101005805 101005805 + Nonsense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:101005805A>T uc001thu.2 + 6 557 c.331A>T c.(331-333)AAG>TAG p.K111* GAS2L3_uc009zty.2_Nonsense_Mutation_p.K111*|GAS2L3_uc001thv.2_Nonsense_Mutation_p.K7* NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 111 CH. cell cycle arrest skin(1) 1 AGTGCCCTGTAAGAAAGATGC 0.363 62 189 --- --- --- --- PASS GOLGA3 2802 broad.mit.edu 37 12 133372541 133372541 + Missense_Mutation SNP T G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:133372541T>G uc001ukz.1 - 11 2925 c.2366A>C c.(2365-2367)AAG>ACG p.K789T GOLGA3_uc001ula.1_Missense_Mutation_p.K789T|GOLGA3_uc001ulb.2_Missense_Mutation_p.K789T NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 789 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) AAGCTCCTCCTTGCCACTCTT 0.552 53 144 --- --- --- --- PASS RB1 5925 broad.mit.edu 37 13 48953728 48953728 + Splice_Site SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr13:48953728A>G uc001vcb.2 + 14 1499 c.1333_splice c.e14-2 p.R445_splice NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTTTGTTTGTAGCGATACAAA 0.204 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 10 23 --- --- --- --- PASS KLF5 688 broad.mit.edu 37 13 73649905 73649905 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr13:73649905G>C uc001vje.2 + 4 1579 c.1255G>C c.(1255-1257)GAG>CAG p.E419Q KLF5_uc001vjd.2_Missense_Mutation_p.E328Q NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 419 C2H2-type 2. transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GCGATCGGATGAGCTGACCCG 0.592 38 54 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101726913 101726913 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr13:101726913G>T uc001vox.1 - 36 4244 c.4055C>A c.(4054-4056)GCT>GAT p.A1352D NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1352 Helical; Name=S5 of repeat IV; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AACAACTCCAGCAAAAGCGTA 0.378 49 80 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108861232 108861232 + Silent SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr13:108861232C>A uc001vqn.2 - 2 2658 c.2385G>T c.(2383-2385)CTG>CTT p.L795L LIG4_uc001vqo.2_Silent_p.L795L|LIG4_uc010agg.1_Silent_p.L728L|LIG4_uc010agf.2_Silent_p.L795L|LIG4_uc001vqp.2_Silent_p.L795L NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 795 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AATCAGCAATCAGAGAAGCCA 0.393 NHEJ 65 57 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23886840 23886840 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr14:23886840C>T uc001wjx.2 - 31 4331 c.4225G>A c.(4225-4227)GCC>ACC p.A1409T NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1409 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GAGCACTTGGCATTAACAGCC 0.622 25 78 --- --- --- --- PASS DHRS4L1 728635 broad.mit.edu 37 14 24517986 24517986 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr14:24517986C>A uc010alc.2 + 8 641 c.641C>A c.(640-642)GCA>GAA p.A214E DHRS4L1_uc010tnu.1_RNA NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 214 binding|oxidoreductase activity 0 AACTGCCTAGCACCTGGACTT 0.527 5 472 --- --- --- --- PASS DLGAP5 9787 broad.mit.edu 37 14 55642126 55642126 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr14:55642126G>A uc001xbs.2 - 10 1456 c.1239C>T c.(1237-1239)GTC>GTT p.V413V DLGAP5_uc001xbt.2_Silent_p.V413V NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 413 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 CAAGTGATGGGACTTCTTTTA 0.303 11 43 --- --- --- --- PASS DACT1 51339 broad.mit.edu 37 14 59105230 59105230 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr14:59105230T>A uc001xdw.2 + 1 474 c.310T>A c.(310-312)TTG>ATG p.L104M DACT1_uc010trv.1_Intron|DACT1_uc001xdx.2_Missense_Mutation_p.L104M|DACT1_uc010trw.1_5'Flank NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 104 Potential. multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 GGAGAAGTTCTTGGAGGAGAA 0.483 14 31 --- --- --- --- PASS SERPINA11 256394 broad.mit.edu 37 14 94909437 94909437 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr14:94909437T>A uc001ydd.1 - 4 1103 c.1043A>T c.(1042-1044)CAG>CTG p.Q348L NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 348 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) TTTGTTGAGCTGCCCAGTGAC 0.448 90 306 --- --- --- --- PASS SERPINA4 5267 broad.mit.edu 37 14 95033547 95033547 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr14:95033547T>C uc001ydk.2 + 3 956 c.890T>C c.(889-891)ATG>ACG p.M297T SERPINA4_uc010avd.2_Missense_Mutation_p.M334T|SERPINA4_uc001ydl.2_Missense_Mutation_p.M297T NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 297 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) ACTCCAGAGATGCTAATGAGG 0.438 47 115 --- --- --- --- PASS BTBD6 90135 broad.mit.edu 37 14 105716320 105716320 + Missense_Mutation SNP G A A rs140283852 TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr14:105716320G>A uc010tyq.1 + 5 877 c.769G>A c.(769-771)GAG>AAG p.E257K BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank NM_033271 NP_150374 Q96KE9 BTBD6_HUMAN BTB domain protein BDPL 257 cytoplasmic mRNA processing body 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) GAACTGGGCCGAGGCGGAGTG 0.597 21 45 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 15 20644850 20644850 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr15:20644850G>A uc001ytg.2 - 21 3117 c.2408C>T c.(2407-2409)GCG>GTG p.A803V uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.A803V|uc010tyy.1_Missense_Mutation_p.A803V RecName: Full=Putative HERC2-like protein 3; CATGTCCCTCGCCCTTTCGGT 0.463 4 133 --- --- --- --- PASS TRPM1 4308 broad.mit.edu 37 15 31294626 31294626 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr15:31294626G>T uc001zfm.2 - 27 4339 c.4211C>A c.(4210-4212)ACG>AAG p.T1404K TRPM1_uc010azy.2_Missense_Mutation_p.T1311K|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1404 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TATATTTGTCGTTTCCACTGT 0.363 198 171 --- --- --- --- PASS C15orf54 400360 broad.mit.edu 37 15 39544396 39544396 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr15:39544396G>A uc001zkg.2 + 2 428 c.60G>A c.(58-60)CCG>CCA p.P20P NM_207445 NP_997328 Q8N8G6 CO054_HUMAN hypothetical protein LOC400360 20 0 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) GGGCTGAGCCGCAAAGAATTT 0.468 7 864 --- --- --- --- PASS PLA2G4F 255189 broad.mit.edu 37 15 42445844 42445844 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr15:42445844C>T uc001zoz.2 - 5 528 c.465G>A c.(463-465)CTG>CTA p.L155L PLA2G4F_uc010bcr.2_5'UTR|PLA2G4F_uc001zpa.2_5'UTR|PLA2G4F_uc010bcs.2_5'UTR NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 155 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ATTCCACCTGCAGCTCTTGTG 0.552 33 96 --- --- --- --- PASS EPB42 2038 broad.mit.edu 37 15 43494124 43494124 + Nonsense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr15:43494124G>A uc001zra.3 - 12 2131 c.1831C>T c.(1831-1833)CAG>TAG p.Q611* EPB42_uc001zqz.3_Nonsense_Mutation_p.Q278*|EPB42_uc010bde.2_Missense_Mutation_p.P402L|EPB42_uc001zrb.3_Nonsense_Mutation_p.Q641*|EPB42_uc010udm.1_Nonsense_Mutation_p.Q533* NM_001114134 NP_001107606 P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 isoform 2 611 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton ovary(2) 2 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) AGGGAGTTCTGGAGGCTGACT 0.562 83 219 --- --- --- --- PASS PYGO1 26108 broad.mit.edu 37 15 55838815 55838815 + Silent SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr15:55838815A>G uc010bfl.1 - 3 722 c.666T>C c.(664-666)TTT>TTC p.F222F PYGO1_uc002adf.1_Silent_p.F222F NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 222 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) GGGGAGGAATAAAAGAATGAT 0.383 99 297 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2811974 2811974 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:2811974G>T uc002crk.2 + 11 1994 c.1445G>T c.(1444-1446)GGG>GTG p.G482V SRRM2_uc002crj.1_Missense_Mutation_p.G386V|SRRM2_uc002crl.1_Missense_Mutation_p.G482V|SRRM2_uc010bsu.1_Missense_Mutation_p.G386V NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 482 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CGTAGGATGGGGAGGTCCCGT 0.562 37 119 --- --- --- --- PASS CLEC16A 23274 broad.mit.edu 37 16 11056372 11056372 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:11056372C>T uc002dao.2 + 3 500 c.270C>T c.(268-270)GGC>GGT p.G90G CLEC16A_uc002dan.3_Silent_p.G90G NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 90 ovary(1)|central_nervous_system(1) 2 AAAAGTCGGGCCGTTACGTGT 0.473 96 253 --- --- --- --- PASS SETD1A 9739 broad.mit.edu 37 16 30978880 30978880 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:30978880C>T uc002ead.1 + 10 3427 c.2741C>T c.(2740-2742)CCC>CTC p.P914L NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 914 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 AGGCCTCGTCCCTCCACTCCT 0.557 39 61 --- --- --- --- PASS ITGAX 3687 broad.mit.edu 37 16 31391090 31391090 + Nonsense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:31391090G>T uc002ebu.1 + 25 2948 c.2881G>T c.(2881-2883)GGA>TGA p.G961* ITGAX_uc002ebt.2_Nonsense_Mutation_p.G961* NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 961 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAATAACCTGGGACAGAGGGA 0.632 25 54 --- --- --- --- PASS SHCBP1 79801 broad.mit.edu 37 16 46638350 46638350 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:46638350C>G uc002eec.3 - 6 753 c.713G>C c.(712-714)CGA>CCA p.R238P NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 238 ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) TGATGGAACTCGGTCTTCAAG 0.383 64 251 --- --- --- --- PASS GPT2 84706 broad.mit.edu 37 16 46962845 46962845 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:46962845A>T uc002eel.2 + 12 1602 c.1508A>T c.(1507-1509)AAG>ATG p.K503M GPT2_uc002eem.2_Missense_Mutation_p.K403M|GPT2_uc002een.2_Missense_Mutation_p.K146M NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 503 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCAGTGGAGAAGCTGAAAACG 0.562 27 81 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48130667 48130667 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:48130667T>C uc002efc.1 - 22 3531 c.3185A>G c.(3184-3186)TAC>TGC p.Y1062C ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 1062 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CTGGATGATGTATGACAATGA 0.398 145 391 --- --- --- --- PASS BRD7 29117 broad.mit.edu 37 16 50357560 50357560 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:50357560C>G uc002egf.1 - 13 1448 c.1381G>C c.(1381-1383)GAT>CAT p.D461H BRD7_uc002ege.1_Missense_Mutation_p.D461H NM_013263 NP_037395 Q9NPI1 BRD7_HUMAN bromodomain containing 7 461 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(37;0.0127) AGTAAACTATCTGCCATGACA 0.413 31 81 --- --- --- --- PASS SLC12A3 6559 broad.mit.edu 37 16 56947293 56947293 + Silent SNP C T T rs149767532 byFrequency TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:56947293C>T uc010ccm.2 + 26 3071 c.3042C>T c.(3040-3042)AAC>AAT p.N1014N SLC12A3_uc002ekd.3_Silent_p.N1023N|SLC12A3_uc010ccn.2_Silent_p.N1022N NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 1014 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) ACCAGGAAAACGTGCTCACCT 0.552 48 209 --- --- --- --- PASS CDH11 1009 broad.mit.edu 37 16 64981585 64981585 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:64981585T>C uc002eoi.2 - 13 2746 c.2312A>G c.(2311-2313)TAT>TGT p.Y771C CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.Y645C NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 771 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GTTCTGTAGATAATCATAGTC 0.453 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 62 191 --- --- --- --- PASS CDH5 1003 broad.mit.edu 37 16 66430103 66430103 + Silent SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:66430103T>A uc002eom.3 + 8 1515 c.1359T>A c.(1357-1359)ACT>ACA p.T453T NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 453 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) TGGATTCCACTGGTGAGTGGC 0.453 33 96 --- --- --- --- PASS ZFP90 146198 broad.mit.edu 37 16 68591960 68591960 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:68591960C>T uc010cff.2 + 3 385 c.93C>T c.(91-93)GTC>GTT p.V31V ZFP90_uc002ewb.2_5'UTR|ZFP90_uc002ewc.2_5'UTR|ZFP90_uc002ewd.2_Silent_p.V31V|ZFP90_uc002ewe.2_Silent_p.V31V NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN zinc finger protein 90 31 KRAB. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) GGTACCATGTCGACCCTGCTC 0.478 78 278 --- --- --- --- PASS FBXO31 79791 broad.mit.edu 37 16 87367769 87367769 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:87367769G>A uc002fjw.2 - 8 1164 c.1120C>T c.(1120-1122)CGC>TGC p.R374C FBXO31_uc010vot.1_Missense_Mutation_p.R202C|FBXO31_uc002fjv.2_Missense_Mutation_p.R266C NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 374 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) ACCCTCTCGCGCACCTCCAGG 0.697 4 105 --- --- --- --- PASS KLHDC4 54758 broad.mit.edu 37 16 87748109 87748109 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr16:87748109C>A uc002fki.2 - 8 876 c.830G>T c.(829-831)AGA>ATA p.R277I KLHDC4_uc010cht.1_Missense_Mutation_p.R96I|KLHDC4_uc002fkj.2_Missense_Mutation_p.R246I|KLHDC4_uc002fkk.2_Missense_Mutation_p.R96I|KLHDC4_uc002fkl.2_Missense_Mutation_p.R220I|KLHDC4_uc010chu.1_Missense_Mutation_p.R96I NM_017566 NP_060036 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 277 Kelch 4. pancreas(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0283) TCTACCTTCTCTTCCGTCCTC 0.592 85 249 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7574035 7574035 + Splice_Site SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr17:7574035T>C uc002gim.2 - 10 1188 c.994_splice c.e10-1 p.I332_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_Splice_Site|TP53_uc010cng.1_Splice_Site|TP53_uc002gii.1_Splice_Site_p.I200_splice|TP53_uc010cnh.1_Splice_Site|TP53_uc010cni.1_Splice_Site|TP53_uc002gij.2_Splice_Site_p.I332_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.?(6)|p.I332fs*49(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCCACGGATCTGCAGCAACAG 0.398 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 22 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11784584 11784584 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr17:11784584C>G uc002gne.2 + 55 10728 c.10660C>G c.(10660-10662)CAC>GAC p.H3554D DNAH9_uc010coo.2_Missense_Mutation_p.H2848D|DNAH9_uc002gnf.2_5'Flank NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3554 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCTCATCCTCCACACCAAGCT 0.512 71 105 --- --- --- --- PASS ACCN1 40 broad.mit.edu 37 17 32483483 32483483 + Silent SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr17:32483483G>T uc002hhu.2 - 1 343 c.69C>A c.(67-69)ACC>ACA p.T23T NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 23 Cytoplasmic (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) GGAGGGTGGAGGTGTTGGCAA 0.622 23 63 --- --- --- --- PASS PLEKHH3 79990 broad.mit.edu 37 17 40823051 40823051 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr17:40823051C>T uc002iau.2 - 9 1849 c.1382G>A c.(1381-1383)GGG>GAG p.G461E PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.G461E NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 461 FERM. signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GAGGGTCCCCCCAGCCAGGGC 0.652 57 120 --- --- --- --- PASS BRIP1 83990 broad.mit.edu 37 17 59885947 59885947 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr17:59885947C>T uc002izk.1 - 7 940 c.799G>A c.(799-801)GCA>ACA p.A267T NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 267 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 CCTGAATATGCCGTCCTCCGG 0.443 F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 5 299 --- --- --- --- PASS KCNH6 81033 broad.mit.edu 37 17 61615851 61615851 + Silent SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr17:61615851T>C uc002jay.2 + 8 1862 c.1782T>C c.(1780-1782)GCT>GCC p.A594A KCNH6_uc010wpl.1_Silent_p.A471A|KCNH6_uc010wpm.1_Silent_p.A594A|KCNH6_uc002jaz.1_Silent_p.A541A NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 594 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) ACTGCCCAGCTTTCAGCGGCG 0.701 4 10 --- --- --- --- PASS OTOP2 92736 broad.mit.edu 37 17 72923807 72923807 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr17:72923807C>T uc010wrp.1 + 6 646 c.557C>T c.(556-558)GCG>GTG p.A186V OTOP2_uc002jmf.1_3'UTR NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 186 integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) ATCTGGATGGCGGCCGTGGTG 0.577 24 87 --- --- --- --- PASS UNK 85451 broad.mit.edu 37 17 73814897 73814897 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr17:73814897G>A uc002jpm.2 + 12 1774 c.1774G>A c.(1774-1776)GAG>AAG p.E592K NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 516 nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GTCAGTCATAGGTAACTAGGC 0.582 14 122 --- --- --- --- PASS RNF157 114804 broad.mit.edu 37 17 74154524 74154524 + Nonsense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr17:74154524C>A uc002jqz.2 - 13 1432 c.1363G>T c.(1363-1365)GAG>TAG p.E455* RNF157_uc002jra.2_Nonsense_Mutation_p.E455* NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 455 Ser-rich. zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) GTCTCCGACTCGCTGCAGGAA 0.512 4 411 --- --- --- --- PASS CBX8 57332 broad.mit.edu 37 17 77768705 77768705 + Missense_Mutation SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr17:77768705A>G uc002jxd.1 - 5 992 c.899T>C c.(898-900)CTA>CCA p.L300P NM_020649 NP_065700 Q9HC52 CBX8_HUMAN chromobox homolog 8 300 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) ATTGGGATCTAGGGCACCCTG 0.687 5 24 --- --- --- --- PASS CTAGE1 64693 broad.mit.edu 37 18 19995852 19995852 + Silent SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr18:19995852A>G uc002ktv.1 - 1 2027 c.1923T>C c.(1921-1923)AAT>AAC p.N641N NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 641 integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GCACCTTTAAATTACCAAGAT 0.408 151 393 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32407610 32407610 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr18:32407610C>A uc010dmn.1 + 10 1065 c.1064C>A c.(1063-1065)CCC>CAC p.P355H DTNA_uc002kxu.2_Missense_Mutation_p.P355H|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.P355H|DTNA_uc002kxw.2_Missense_Mutation_p.P355H|DTNA_uc002kxx.2_Missense_Mutation_p.P352H|DTNA_uc010dmj.2_Missense_Mutation_p.P352H|DTNA_uc002kxz.2_Missense_Mutation_p.P352H|DTNA_uc002kxy.2_Missense_Mutation_p.P352H|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.P352H|DTNA_uc002kyb.3_Missense_Mutation_p.P352H|DTNA_uc010dmm.2_Missense_Mutation_p.P355H|DTNA_uc010xby.1_Missense_Mutation_p.P102H|DTNA_uc010dmo.2_Missense_Mutation_p.P34H|DTNA_uc002kyd.3_Missense_Mutation_p.P34H|DTNA_uc010xbz.1_Missense_Mutation_p.P34H|DTNA_uc010xca.1_Missense_Mutation_p.P34H|DTNA_uc002kye.2_Missense_Mutation_p.P34H NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 355 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 CACTCTGTTCCCTCCTCAGGA 0.413 6 375 --- --- --- --- PASS KIAA1632 57724 broad.mit.edu 37 18 43519604 43519604 + Silent SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr18:43519604C>A uc002lbm.2 - 10 2161 c.2061G>T c.(2059-2061)CTG>CTT p.L687L KIAA1632_uc002lbo.1_Silent_p.L687L NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 687 autophagy 0 CCCTCAAAAACAGTTCATCAA 0.428 53 159 --- --- --- --- PASS CNDP1 84735 broad.mit.edu 37 18 72228155 72228155 + Missense_Mutation SNP C T T rs139749526 byFrequency TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr18:72228155C>T uc002llq.2 + 4 579 c.368C>T c.(367-369)ACG>ATG p.T123M uc002llr.2_5'Flank NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN carnosinase 1 precursor 123 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity 0 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) AGCGATCCCACGAAAGGCACC 0.577 108 295 --- --- --- --- PASS DOT1L 84444 broad.mit.edu 37 19 2217885 2217885 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:2217885A>T uc002lvb.3 + 22 2695 c.2659A>T c.(2659-2661)AGC>TGC p.S887C DOT1L_uc002lvc.1_Missense_Mutation_p.S181C|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.S181C NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 887 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCCTGGCCAGCGTGGTGCT 0.682 7 31 --- --- --- --- PASS NCLN 56926 broad.mit.edu 37 19 3193290 3193290 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:3193290G>A uc002lxi.2 + 3 538 c.384G>A c.(382-384)ATG>ATA p.M128I NCLN_uc002lxh.1_RNA NM_020170 NP_064555 Q969V3 NCLN_HUMAN nicalin precursor 128 Lumenal (Potential). proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) AGCAATTCATGGAGATCGAGC 0.632 26 71 --- --- --- --- PASS FUT3 2525 broad.mit.edu 37 19 5844460 5844460 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:5844460G>C uc002mdk.2 - 2 488 c.391C>G c.(391-393)CGC>GGC p.R131G FUT3_uc002mdm.2_Missense_Mutation_p.R131G|FUT3_uc002mdj.2_Missense_Mutation_p.R131G|FUT3_uc002mdl.2_Missense_Mutation_p.R131G NM_001097641 NP_001091110 P21217 FUT3_HUMAN fucosyltransferase 3 131 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity 0 CAGATCCAGCGCTGCCCCTGC 0.592 40 141 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8181629 8181629 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:8181629T>C uc002mjf.2 - 28 3662 c.3641A>G c.(3640-3642)AAC>AGC p.N1214S NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1214 EGF-like 17. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCCTGGCATGTTGGTGCAGTG 0.622 50 98 --- --- --- --- PASS MARCH2 51257 broad.mit.edu 37 19 8503280 8503280 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:8503280C>T uc002mjv.2 + 6 1032 c.591C>T c.(589-591)TTC>TTT p.F197F MARCH2_uc002mjw.2_Silent_p.F197F|MARCH2_uc002mjx.2_Silent_p.F127F NM_016496 NP_057580 Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2 197 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 AGGTCTCCTTCCGCTACCACT 0.637 4 134 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9024157 9024157 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:9024157G>T uc002mkp.2 - 18 37319 c.37115C>A c.(37114-37116)CCA>CAA p.P12372Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12374 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGGGAGGATGGAGTCCCTGA 0.453 13 55 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9056705 9056705 + Silent SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:9056705T>A uc002mkp.2 - 3 30945 c.30741A>T c.(30739-30741)CCA>CCT p.P10247P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10249 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACCTGGATTCTGGGAAGGAGG 0.458 40 121 --- --- --- --- PASS ZNF317 57693 broad.mit.edu 37 19 9272044 9272044 + Missense_Mutation SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:9272044A>G uc002mku.2 + 7 1998 c.1723A>G c.(1723-1725)AGC>GGC p.S575G ZNF317_uc002mkv.2_Missense_Mutation_p.S434G|ZNF317_uc002mkw.2_Missense_Mutation_p.S543G|ZNF317_uc002mkx.2_Missense_Mutation_p.S490G|ZNF317_uc002mky.2_Missense_Mutation_p.S458G NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 575 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATCCCTCAGGAGCCACGTGAA 0.567 3 188 --- --- --- --- PASS SLC44A2 57153 broad.mit.edu 37 19 10745908 10745908 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:10745908C>T uc002mpf.2 + 13 1264 c.1125C>T c.(1123-1125)ATC>ATT p.I375I SLC44A2_uc002mpe.3_Silent_p.I373I|SLC44A2_uc002mpg.1_Silent_p.I95I|SLC44A2_uc002mph.2_5'Flank NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 375 Helical; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GCCTCTGCATCGCCTACTGGG 0.567 83 182 --- --- --- --- PASS ZNF700 90592 broad.mit.edu 37 19 12059437 12059437 + Nonsense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:12059437G>T uc002msu.2 + 4 724 c.598G>T c.(598-600)GGA>TGA p.G200* ZNF700_uc010xme.1_Nonsense_Mutation_p.G218*|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 200 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAAAGTCTGTGGAAAAACCTT 0.393 76 191 --- --- --- --- PASS SF4 57794 broad.mit.edu 37 19 19390148 19390148 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:19390148T>A uc002nmh.2 - 10 1404 c.1402A>T c.(1402-1404)ATG>TTG p.M468L SF4_uc002nmf.2_Missense_Mutation_p.M18L|SF4_uc002nmg.2_Missense_Mutation_p.M18L|SF4_uc002nmi.2_Missense_Mutation_p.M258L|SF4_uc002nmj.2_Missense_Mutation_p.M258L|SF4_uc002nme.2_Missense_Mutation_p.M18L NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 468 Gln/Met-rich. nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 AGCAGCTGCATGTCCTGCATG 0.627 11 47 --- --- --- --- PASS ZNF93 81931 broad.mit.edu 37 19 20044956 20044956 + Missense_Mutation SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:20044956A>G uc002non.2 + 4 1303 c.1192A>G c.(1192-1194)AAA>GAA p.K398E NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 398 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 GAAGCCCTACAAATGTGAAGA 0.408 66 134 --- --- --- --- PASS WDR88 126248 broad.mit.edu 37 19 33639783 33639783 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:33639783G>C uc002nui.2 + 5 724 c.646G>C c.(646-648)GCC>CCC p.A216P NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 216 WD 3. ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) CATAATGGACGCCGAGAACAT 0.502 76 230 --- --- --- --- PASS CATSPERG 57828 broad.mit.edu 37 19 38858205 38858205 + Missense_Mutation SNP C G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:38858205C>G uc002oih.3 + 24 2914 c.2827C>G c.(2827-2829)CAG>GAG p.Q943E CATSPERG_uc002oig.3_Missense_Mutation_p.Q903E|CATSPERG_uc002oif.3_Missense_Mutation_p.Q583E|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 943 Extracellular (Potential). Q -> R (in Ref. 3; BAC87333). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 CGGCAGTTTCCAGGGCAGGTA 0.547 246 622 --- --- --- --- PASS CYP2F1 1572 broad.mit.edu 37 19 41630712 41630712 + Silent SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:41630712G>C uc002opu.1 + 8 1109 c.1053G>C c.(1051-1053)GCG>GCC p.A351A CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 351 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 ACACAGACGCGGTGATCCACG 0.657 10 28 --- --- --- --- PASS CEACAM18 729767 broad.mit.edu 37 19 51984759 51984759 + Silent SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:51984759T>C uc002pwv.1 + 4 696 c.696T>C c.(694-696)AAT>AAC p.N232N NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 232 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GGTATGTGAATGATGTGCCTA 0.522 36 88 --- --- --- --- PASS PRKCG 5582 broad.mit.edu 37 19 54387495 54387495 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:54387495G>T uc002qcq.1 + 3 565 c.283G>T c.(283-285)GAC>TAC p.D95Y PRKCG_uc010eqz.1_Missense_Mutation_p.D95Y|PRKCG_uc010yef.1_Missense_Mutation_p.D95Y|PRKCG_uc010yeg.1_Missense_Mutation_p.D95Y|PRKCG_uc010yeh.1_Missense_Mutation_p.G19V NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 95 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCCCCAGACGGACGTGAGTGC 0.582 33 109 --- --- --- --- PASS SBK2 646643 broad.mit.edu 37 19 56047510 56047510 + Missense_Mutation SNP T C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:56047510T>C uc010ygc.1 - 1 152 c.152A>G c.(151-153)CAG>CGG p.Q51R NM_001101401 NP_001094871 P0C263 SBK2_HUMAN SH3-binding domain kinase family, member 2 51 ATP binding|protein serine/threonine kinase activity 0 GACCAGGGTCTGAGCACTCAG 0.652 24 31 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56382266 56382266 + Missense_Mutation SNP C G G rs143466082 TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:56382266C>G uc002qmd.3 + 7 2850 c.2428C>G c.(2428-2430)CGC>GGC p.R810G NLRP4_uc002qmf.2_Missense_Mutation_p.R735G|NLRP4_uc010etf.2_Missense_Mutation_p.R585G NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 810 LRR 5. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CAAGAGCGTGCGCTATCTAGA 0.517 51 158 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57176503 57176503 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:57176503C>T uc010ygo.1 - 2 130 c.130G>A c.(130-132)GGC>AGC p.G44S ZNF835_uc010ygn.1_Missense_Mutation_p.G22S NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 TCAACCTGGCCCTCGTGTTTC 0.602 42 107 --- --- --- --- PASS ZNF304 57343 broad.mit.edu 37 19 57867632 57867632 + Missense_Mutation SNP T G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr19:57867632T>G uc010ygw.1 + 3 783 c.395T>G c.(394-396)TTT>TGT p.F132C ZNF304_uc010etw.2_Missense_Mutation_p.F179C|ZNF304_uc010etx.2_Missense_Mutation_p.F90C NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 132 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) AGTGCAAACTTTTACCAGCAC 0.478 30 91 --- --- --- --- PASS C20orf96 140680 broad.mit.edu 37 20 258973 258973 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr20:258973C>A uc002wde.1 - 6 702 c.563G>T c.(562-564)AGC>ATC p.S188I C20orf96_uc002wdc.2_Missense_Mutation_p.S135I|C20orf96_uc002wdd.2_Missense_Mutation_p.S153I|C20orf96_uc010zpi.1_Missense_Mutation_p.S135I|C20orf96_uc010zpj.1_Missense_Mutation_p.S153I|C20orf96_uc010zpk.1_Missense_Mutation_p.S126I NM_153269 NP_695001 Q9NUD7 CT096_HUMAN hypothetical protein LOC140680 188 Potential. 0 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) ATTCTTACAGCTCATCTTGCA 0.488 95 621 --- --- --- --- PASS ZCCHC3 85364 broad.mit.edu 37 20 278756 278756 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr20:278756G>C uc002wdf.2 + 2 550 c.526G>C c.(526-528)GGC>CGC p.G176R ZCCHC3_uc002wdg.2_Intron NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 177 nucleic acid binding|zinc ion binding 0 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GGGAGACGAGGGCGCCTGCCC 0.577 4 24 --- --- --- --- PASS MACROD2 140733 broad.mit.edu 37 20 15967727 15967727 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr20:15967727A>T uc002wou.2 + 15 1341 c.1077A>T c.(1075-1077)CAA>CAT p.Q359H MACROD2_uc002wot.2_Missense_Mutation_p.Q359H|MACROD2_uc002woz.2_Missense_Mutation_p.Q124H|MACROD2_uc002wpb.2_Missense_Mutation_p.Q124H|MACROD2_uc002wpd.2_Missense_Mutation_p.Q10H NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 359 Glu-rich. 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) CATCAAACCAAGAAGATGCCG 0.383 49 242 --- --- --- --- PASS SEC23B 10483 broad.mit.edu 37 20 18511331 18511331 + Missense_Mutation SNP A G G rs17849992 TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr20:18511331A>G uc002wqz.1 + 10 1560 c.1117A>G c.(1117-1119)ATG>GTG p.M373V SEC23B_uc002wra.1_Missense_Mutation_p.M373V|SEC23B_uc002wrb.1_Missense_Mutation_p.M373V|SEC23B_uc010zsb.1_Missense_Mutation_p.M355V|SEC23B_uc002wrc.1_Missense_Mutation_p.M373V NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 373 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 TAGAGGCTACATGGTAATGGG 0.333 62 246 --- --- --- --- PASS NKX2-2 4821 broad.mit.edu 37 20 21492667 21492667 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr20:21492667G>T uc002wsi.2 - 2 1073 c.716C>A c.(715-717)GCG>GAG p.A239E NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 239 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 CAGCGACTGCGCGCTGTAGGC 0.652 32 126 --- --- --- --- PASS GGT7 2686 broad.mit.edu 37 20 33447370 33447370 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr20:33447370C>T uc002xay.2 - 7 933 c.890G>A c.(889-891)CGC>CAC p.R297H GGT7_uc002xaz.1_Missense_Mutation_p.R314H|GGT7_uc002xba.1_3'UTR NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 297 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 TAGTGGCGGGCGGCCCGATGG 0.687 5 12 --- --- --- --- PASS FAM83D 81610 broad.mit.edu 37 20 37580780 37580780 + Missense_Mutation SNP A G G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr20:37580780A>G uc002xjg.2 + 4 1506 c.1465A>G c.(1465-1467)ACA>GCA p.T489A NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 459 Ser-rich. cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) AACTCAATCTACAGAAGGGTC 0.483 63 169 --- --- --- --- PASS SNX21 90203 broad.mit.edu 37 20 44463643 44463643 + Missense_Mutation SNP C T T rs141041804 byFrequency TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr20:44463643C>T uc002xpv.1 + 3 424 c.335C>T c.(334-336)GCG>GTG p.A112V SNX21_uc002xps.1_Missense_Mutation_p.A112V|SNX21_uc002xpt.1_Missense_Mutation_p.A112V|SNX21_uc002xpu.1_Missense_Mutation_p.A112V|SNX21_uc002xpw.1_5'UTR|SNX21_uc002xpx.2_Missense_Mutation_p.A102V|SNX21_uc010zxd.1_Missense_Mutation_p.A103V|SNX21_uc002xpy.1_5'UTR NM_033421 NP_219489 Q969T3 SNX21_HUMAN sorting nexin 21 isoform a 112 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding breast(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) CAGCTCCTGGCGCGGCAGCTG 0.617 5 255 --- --- --- --- PASS ZGPAT 84619 broad.mit.edu 37 20 62339934 62339934 + Missense_Mutation SNP T A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr20:62339934T>A uc002ygk.2 + 2 180 c.2T>A c.(1-3)ATG>AAG p.M1K ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.M1K|ZGPAT_uc002ygj.2_Missense_Mutation_p.M1K|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.M1K|ZGPAT_uc002ygm.2_Missense_Mutation_p.M1K|ZGPAT_uc002ygn.3_RNA NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 1 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) TCTCTCAGCATGGACGAGGAG 0.687 22 63 --- --- --- --- PASS ZGPAT 84619 broad.mit.edu 37 20 62339951 62339951 + Missense_Mutation SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr20:62339951G>A uc002ygk.2 + 2 197 c.19G>A c.(19-21)GAG>AAG p.E7K ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.E7K|ZGPAT_uc002ygj.2_Missense_Mutation_p.E7K|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.E7K|ZGPAT_uc002ygm.2_Missense_Mutation_p.E7K|ZGPAT_uc002ygn.3_RNA NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 7 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GGAGAGCCTGGAGTCGGCCTT 0.677 24 70 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10970050 10970050 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr21:10970050A>T uc002yip.1 - 6 446 c.78T>A c.(76-78)AGT>AGA p.S26R TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S26R|TPTE_uc002yir.1_Missense_Mutation_p.S26R|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 26 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTTAAATTCACTTGTCTGTG 0.383 90 133 --- --- --- --- PASS AIRE 326 broad.mit.edu 37 21 45713059 45713059 + Splice_Site SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr21:45713059G>T uc002zei.2 + 10 1405 c.1278_splice c.e10+1 p.Q426_splice AIRE_uc010gpq.2_Splice_Site|AIRE_uc002zej.2_Splice_Site_p.Q229_splice|AIRE_uc010gpr.2_Splice_Site_p.Q229_splice NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) GGGTCAGCAGGTGAGCGGGGA 0.667 Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy 3 7 --- --- --- --- PASS EIF4ENIF1 56478 broad.mit.edu 37 22 31851891 31851891 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr22:31851891C>A uc003akz.1 - 8 1210 c.1046G>T c.(1045-1047)AGC>ATC p.S349I EIF4ENIF1_uc003akx.1_Missense_Mutation_p.S28I|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.S28I|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.S349I|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.S186I NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 349 nucleus protein binding|protein transporter activity ovary(1) 1 GCTGGATCGGCTTCCTGATCT 0.468 OREG0003517 type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 135 134 --- --- --- --- PASS RFPL2 10739 broad.mit.edu 37 22 32587176 32587176 + Silent SNP G A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr22:32587176G>A uc003amg.3 - 5 1656 c.720C>T c.(718-720)CGC>CGT p.R240R RFPL2_uc003ame.3_Silent_p.R179R|RFPL2_uc003amf.3_Silent_p.R150R|RFPL2_uc003amh.3_Silent_p.R150R NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 240 B30.2/SPRY. zinc ion binding skin(1) 1 CCCAGCAGTGGCGGCCACAGG 0.592 146 138 --- --- --- --- PASS ASMTL 8623 broad.mit.edu 37 X 1522275 1522275 + Silent SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chrX:1522275G>T uc004cpx.1 - 13 1864 c.1753C>A c.(1753-1755)CGG>AGG p.R585R NCRNA00105_uc004cpv.2_Intron|NCRNA00105_uc004cpw.2_Intron|ASMTL_uc011mhe.1_Silent_p.R509R|ASMTL_uc004cpy.1_Silent_p.R569R|ASMTL_uc011mhf.1_Silent_p.R527R NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 585 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCCAGGCTCCGCTCCTTGCCT 0.627 54 118 --- --- --- --- PASS SH3KBP1 30011 broad.mit.edu 37 X 19564056 19564056 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chrX:19564056G>C uc004czm.2 - 15 1923 c.1607C>G c.(1606-1608)ACT>AGT p.T536S SH3KBP1_uc011mje.1_Missense_Mutation_p.T275S|SH3KBP1_uc011mjf.1_Missense_Mutation_p.T298S|SH3KBP1_uc004czl.2_Missense_Mutation_p.T499S|SH3KBP1_uc010nfm.2_Intron NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a 536 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 TATGGTAACAGTCTTGGAAGT 0.473 42 33 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37029201 37029201 + Missense_Mutation SNP G C C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chrX:37029201G>C uc004ddl.1 + 1 2732 c.2718G>C c.(2716-2718)ATG>ATC p.M906I NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 906 ovary(3) 3 TAGACGAAATGGATGAGGTCA 0.453 94 73 --- --- --- --- PASS FAM123B 139285 broad.mit.edu 37 X 63411391 63411391 + Silent SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chrX:63411391C>T uc004dvo.2 - 2 2049 c.1776G>A c.(1774-1776)GAG>GAA p.E592E NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 592 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 TGGCGTGGGCCTCCCTGGCAT 0.617 34 34 --- --- --- --- PASS PDZD11 51248 broad.mit.edu 37 X 69507655 69507655 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chrX:69507655C>A uc004dyd.1 - 5 356 c.254G>T c.(253-255)AGA>ATA p.R85I KIF4A_uc004dyg.2_5'Flank|KIF4A_uc010nkw.2_5'Flank|PDZD11_uc004dye.1_Missense_Mutation_p.R117I|KIF4A_uc004dyf.1_5'Flank NM_016484 NP_057568 Q5EBL8 PDZ11_HUMAN PDZ domain containing 11 85 PDZ. basolateral plasma membrane|cytosol|extracellular region protein C-terminus binding 0 CAGTCCTGCTCTATGTGCATC 0.458 4 169 --- --- --- --- PASS PCDH19 57526 broad.mit.edu 37 X 99661771 99661771 + Missense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chrX:99661771C>T uc010nmz.2 - 1 3501 c.1825G>A c.(1825-1827)GAG>AAG p.E609K PCDH19_uc004efw.3_Missense_Mutation_p.E609K|PCDH19_uc004efx.3_Missense_Mutation_p.E609K NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 609 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CGGTCGCCCTCGGTCATGTCG 0.552 48 30 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109694197 109694197 + Missense_Mutation SNP A T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chrX:109694197A>T uc004eor.1 + 3 598 c.352A>T c.(352-354)ATG>TTG p.M118L RGAG1_uc011msr.1_Missense_Mutation_p.M118L NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 118 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CCCATTGCTAATGCCAGCCTT 0.522 136 116 --- --- --- --- PASS ATP2B3 492 broad.mit.edu 37 X 152827614 152827614 + Missense_Mutation SNP G T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chrX:152827614G>T uc004fht.1 + 18 3199 c.3073G>T c.(3073-3075)GGG>TGG p.G1025W ATP2B3_uc004fhs.1_Missense_Mutation_p.G1025W|ATP2B3_uc010nuf.1_Missense_Mutation_p.G48W|ATP2B3_uc004fhu.1_5'UTR NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 1025 Extracellular (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGTTTGGCGGGAAGCCCTT 0.612 105 101 --- --- --- --- PASS SPRY3 10251 broad.mit.edu 37 X 155003879 155003879 + Nonsense_Mutation SNP C T T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chrX:155003879C>T uc004fnq.1 + 2 800 c.346C>T c.(346-348)CAA>TAA p.Q116* SPRY3_uc010nvl.1_Intron NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 116 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CATCCGAACCCAACCTGGAGC 0.552 54 73 --- --- --- --- PASS PCDH11Y 83259 broad.mit.edu 37 Y 5369195 5369195 + Missense_Mutation SNP C A A TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chrY:5369195C>A uc004fqo.2 + 3 3961 c.3227C>A c.(3226-3228)ACA>AAA p.T1076K NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 1076 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 CTTACCAGCACATCCCATGGC 0.567 71 57 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41000798 41000798 + Frame_Shift_Del DEL G - - TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr5:41000798delG uc003jmj.3 - 38 4822 c.4332delC c.(4330-4332)CCCfs p.P1444fs HEATR7B2_uc003jmi.3_Frame_Shift_Del_p.P999fs NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1444 binding ovary(6)|central_nervous_system(2) 8 TCTTGGGGTTGGGATCCCAAA 0.488 47 23 --- --- --- --- Unknown 0 broad.mit.edu 37 12 52501561 52501562 + RNA INS - TT TT rs145272216 by1000genomes TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr12:52501561_52501562insTT uc009zme.1 + 3 c.960_961insTT Homo sapiens olfactory receptor, family 7, subfamily E, member 47 pseudogene, mRNA (cDNA clone IMAGE:5590288). GTTTTGCTGTCTTTTTTTTTTC 0.436 5 5 --- --- --- --- ADAM6 8755 broad.mit.edu 37 14 106770438 106770439 + Splice_Site INS - CT CT TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f574d3b7-4ae4-49bc-9e05-f965fbc86119 ec252807-66f6-42aa-8ba7-1634ce644008 g.chr14:106770438_106770439insCT uc010tyt.1 - 442 c.15776_splice c.e442-1 Parts of antibodies, mostly variable regions. 0 CCTGGCCCAGCCTCTCTTGGCT 0.520 4 2 --- --- --- ---