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 SCNN1D 6339 broad.mit.edu 37 1 1226037 1226037 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:1226037C>A uc001adu.1 + 14 2012 c.1388C>A c.(1387-1389)TCC>TAC p.S463Y SCNN1D_uc001adt.1_Missense_Mutation_p.S627Y|SCNN1D_uc001adw.2_Missense_Mutation_p.S529Y|SCNN1D_uc001adx.2_Missense_Mutation_p.S252Y|SCNN1D_uc001adv.2_Missense_Mutation_p.S463Y NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) TTCAAGCTCTCCACTGGGACC 0.647 41 106 --- --- --- --- PASS H6PD 9563 broad.mit.edu 37 1 9324831 9324831 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:9324831G>T uc001apt.2 + 5 2552 c.2279G>T c.(2278-2280)CGG>CTG p.R760L NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 760 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CTGGTGAGCCGGGTGGGCCAT 0.637 59 62 --- --- --- --- PASS IGSF21 84966 broad.mit.edu 37 1 18703336 18703336 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:18703336G>A uc001bau.1 + 8 1527 c.1144G>A c.(1144-1146)GGG>AGG p.G382R IGSF21_uc001bav.1_Missense_Mutation_p.G203R NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 382 Ig-like 2. 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) GACGCGGGTTGGGAGCCGCCT 0.647 35 85 --- --- --- --- PASS EIF4G3 8672 broad.mit.edu 37 1 21133912 21133912 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:21133912T>C uc001bec.2 - 32 4914 c.4658A>G c.(4657-4659)AAG>AGG p.K1553R EIF4G3_uc010odi.1_Missense_Mutation_p.K1157R|EIF4G3_uc010odj.1_Missense_Mutation_p.K1552R|EIF4G3_uc009vpz.2_Missense_Mutation_p.K1273R|EIF4G3_uc001bed.2_Missense_Mutation_p.K1553R|EIF4G3_uc001bef.2_Missense_Mutation_p.K1589R|EIF4G3_uc001bee.2_Missense_Mutation_p.K1559R NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 1553 EIF4A-binding (By similarity).|W2. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGCAGGGTCCTTGCTGCTCTC 0.498 144 228 --- --- --- --- PASS TMEM57 55219 broad.mit.edu 37 1 25783156 25783156 + Silent SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:25783156T>A uc001bkk.2 + 5 688 c.486T>A c.(484-486)CCT>CCA p.P162P TMEM57_uc009vru.2_Intron|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN transmembrane protein 57 162 Helical; (Potential). axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) TTGGGTACCCTGTGGTAACTT 0.383 23 38 --- --- --- --- PASS PTPRU 10076 broad.mit.edu 37 1 29587268 29587268 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:29587268G>A uc001bru.2 + 7 1107 c.997G>A c.(997-999)GAG>AAG p.E333K PTPRU_uc001brv.2_Missense_Mutation_p.E333K|PTPRU_uc001brw.2_Missense_Mutation_p.E333K|PTPRU_uc009vtq.2_Missense_Mutation_p.E333K|PTPRU_uc009vtr.2_Missense_Mutation_p.E333K NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 333 Fibronectin type-III 1.|Extracellular (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GCCCTGGGCTGAGGTGCACGC 0.637 65 89 --- --- --- --- PASS LAPTM5 7805 broad.mit.edu 37 1 31214487 31214487 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:31214487C>G uc001bsc.2 - 3 349 c.258G>C c.(256-258)AAG>AAC p.K86N NM_006762 NP_006753 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 86 transport integral to plasma membrane|lysosomal membrane 0 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) GAGCCCTCACCTTGACTACGC 0.607 6 15 --- --- --- --- PASS SDC3 9672 broad.mit.edu 37 1 31349607 31349607 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:31349607G>T uc001bse.2 - 3 709 c.662C>A c.(661-663)ACG>AAG p.T221K SDC3_uc001bsd.2_Missense_Mutation_p.T163K NM_014654 NP_055469 O75056 SDC3_HUMAN syndecan 3 221 Extracellular (Potential).|Ser/Thr-rich (mucin-like). integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) GGCCCGTGCCGTAGCCACTGT 0.672 6 34 --- --- --- --- PASS TEKT2 27285 broad.mit.edu 37 1 36552339 36552339 + Missense_Mutation SNP G A A rs141019195 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:36552339G>A uc001bzr.2 + 5 650 c.523G>A c.(523-525)GAC>AAC p.D175N TEKT2_uc001bzs.2_Missense_Mutation_p.D81N|ADPRHL2_uc001bzt.2_5'Flank|ADPRHL2_uc001bzu.2_5'Flank NM_014466 NP_055281 Q9UIF3 TEKT2_HUMAN tektin 2 175 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCTCAACTCCGACCATCGGGG 0.562 117 204 --- --- --- --- PASS GRIK3 2899 broad.mit.edu 37 1 37346264 37346264 + Nonsense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:37346264G>T uc001caz.2 - 3 656 c.521C>A c.(520-522)TCA>TAA p.S174* GRIK3_uc001cba.1_Nonsense_Mutation_p.S174* NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 174 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CACGGTGGCTGACCGCCACTT 0.622 249 248 --- --- --- --- PASS SNIP1 79753 broad.mit.edu 37 1 38005899 38005899 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:38005899T>C uc001cbi.2 - 3 858 c.785A>G c.(784-786)TAC>TGC p.Y262C SNIP1_uc010oid.1_RNA NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 262 production of miRNAs involved in gene silencing by miRNA nucleus protein binding upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) TTTAAATGGGTAGAGACGCCA 0.488 79 99 --- --- --- --- PASS KIAA0467 23334 broad.mit.edu 37 1 43898205 43898205 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:43898205C>T uc001cjk.1 + 23 3225 c.2763C>T c.(2761-2763)CCC>CCT p.P921P NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1820 peroxisome p.P921P(1) 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAGCCAGCCCCCAAGCACCTG 0.632 113 295 --- --- --- --- PASS LRRC41 10489 broad.mit.edu 37 1 46763301 46763301 + Silent SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:46763301G>A uc001cpn.2 - 3 335 c.291C>T c.(289-291)CTC>CTT p.L97L LRRC41_uc010omb.1_Silent_p.L97L|LRRC41_uc001cpo.1_Silent_p.L97L NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 97 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) CCTGAGTTGAGAGGCCTGTAA 0.463 30 76 --- --- --- --- PASS STIL 6491 broad.mit.edu 37 1 47755241 47755241 + Nonsense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:47755241C>A uc001crc.1 - 9 1044 c.889G>T c.(889-891)GGA>TGA p.G297* TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Nonsense_Mutation_p.G250*|STIL_uc010omo.1_Nonsense_Mutation_p.G297*|STIL_uc001crd.1_Nonsense_Mutation_p.G297*|STIL_uc001cre.1_Nonsense_Mutation_p.G297*|STIL_uc001crg.1_Nonsense_Mutation_p.G250* NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 297 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ATGAAATTTCCAGATTCTGAA 0.338 25 43 --- --- --- --- PASS ELAVL4 1996 broad.mit.edu 37 1 50661265 50661265 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:50661265G>A uc001csb.2 + 5 809 c.541G>A c.(541-543)GAT>AAT p.D181N ELAVL4_uc001cry.3_Missense_Mutation_p.D184N|ELAVL4_uc001crz.3_Missense_Mutation_p.D181N|ELAVL4_uc001csa.3_Missense_Mutation_p.D198N|ELAVL4_uc001csc.3_Missense_Mutation_p.D181N|ELAVL4_uc009vyu.2_Missense_Mutation_p.D186N|ELAVL4_uc010omz.1_Missense_Mutation_p.D186N NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 181 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 CATCCGCTTTGATAAGAGGAT 0.498 79 129 --- --- --- --- PASS CPT2 1376 broad.mit.edu 37 1 53676551 53676551 + Missense_Mutation SNP A C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:53676551A>C uc001cvb.3 + 4 1720 c.1205A>C c.(1204-1206)CAG>CCG p.Q402P NM_000098 NP_000089 P23786 CPT2_HUMAN carnitine O-palmitoyltransferase precursor 402 Mitochondrial matrix (By similarity). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity 0 L-Carnitine(DB00583)|Perhexiline(DB01074) CCACAGAGCCAGCCAGCTACC 0.483 19 26 --- --- --- --- PASS JUN 3725 broad.mit.edu 37 1 59248539 59248539 + Silent SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:59248539C>A uc001cze.2 - 1 1247 c.204G>T c.(202-204)CTG>CTT p.L68L uc001czf.2_5'Flank|uc010oop.1_5'Flank NM_002228 NP_002219 P05412 JUN_HUMAN jun oncogene 68 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|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|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) CCAGCTTGAGCAGCCCCACGT 0.662 A sarcoma 124 273 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62330263 62330263 + Nonsense_Mutation SNP T G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:62330263T>G uc001dab.2 + 20 2907 c.2793T>G c.(2791-2793)TAT>TAG p.Y931* INADL_uc009waf.1_Nonsense_Mutation_p.Y931*|INADL_uc001daa.2_Nonsense_Mutation_p.Y931*|INADL_uc001dad.3_Nonsense_Mutation_p.Y628*|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 931 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GGACTGTCTATTCCCAGGAGG 0.502 83 122 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74507031 74507031 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:74507031C>A uc001dfy.3 - 7 1776 c.1584G>T c.(1582-1584)TTG>TTT p.L528F LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 528 ovary(2) 2 GTCCTCTGGTCAAAAGAGTGC 0.343 39 74 --- --- --- --- PASS CLCA1 1179 broad.mit.edu 37 1 86939149 86939149 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:86939149G>C uc001dlt.2 + 2 341 c.212G>C c.(211-213)CGA>CCA p.R71P CLCA1_uc001dls.1_Intron NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 71 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) ACAGGAAAGCGATTTTATTTC 0.358 42 144 --- --- --- --- PASS TBX15 6913 broad.mit.edu 37 1 119467405 119467405 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:119467405C>A uc001ehl.1 - 4 554 c.239G>T c.(238-240)GGC>GTC p.G80V NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 186 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) ATCAGCATTGCCAGCCACCAT 0.373 169 152 --- --- --- --- PASS CGN 57530 broad.mit.edu 37 1 151497266 151497266 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:151497266G>C uc009wmw.2 + 8 1662 c.1518G>C c.(1516-1518)GAG>GAC p.E506D NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 500 Glu-rich.|Potential. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CCCTGAAAGAGGAGGTAGCCT 0.612 48 28 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152191644 152191644 + Nonsense_Mutation SNP C A A rs141963410 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:152191644C>A uc001ezt.1 - 3 2537 c.2461G>T c.(2461-2463)GAG>TAG p.E821* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 821 8. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCAGACTCGTGTTGCCCA 0.567 4 246 --- --- --- --- PASS LCE2D 353141 broad.mit.edu 37 1 152636633 152636633 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:152636633C>A uc001fag.2 + 2 107 c.52C>A c.(52-54)CCC>ACC p.P18T NM_178430 NP_848517 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 18 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAAATGTCCTCCCAAGTGTAC 0.517 311 218 --- --- --- --- PASS LCE2D 353141 broad.mit.edu 37 1 152636634 152636634 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:152636634C>A uc001fag.2 + 2 108 c.53C>A c.(52-54)CCC>CAC p.P18H NM_178430 NP_848517 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 18 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AAATGTCCTCCCAAGTGTACC 0.522 307 221 --- --- --- --- PASS IVL 3713 broad.mit.edu 37 1 152882692 152882692 + Missense_Mutation SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:152882692A>G uc001fau.2 + 2 465 c.419A>G c.(418-420)AAG>AGG p.K140R NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 140 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GAGCTAGTCAAGAGAGATGAG 0.348 21 70 --- --- --- --- PASS PYGO2 90780 broad.mit.edu 37 1 154932143 154932143 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:154932143C>T uc001fft.2 - 3 539 c.333G>A c.(331-333)GCG>GCA p.A111A NM_138300 NP_612157 Q9BRQ0 PYGO2_HUMAN pygopus homolog 2 111 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding skin(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTACCTGGCCCGCCATGCCCC 0.662 24 40 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156514248 156514248 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:156514248T>C uc001fpf.2 - 20 2396 c.2321A>G c.(2320-2322)TAT>TGT p.Y774C NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 774 IQ 2. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCGCTGCCTATAACCCCGCCA 0.483 51 28 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157494125 157494125 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:157494125T>A uc001fqu.2 - 10 2341 c.2183A>T c.(2182-2184)GAG>GTG p.E728V FCRL5_uc009wsm.2_Missense_Mutation_p.E728V|FCRL5_uc010phv.1_Missense_Mutation_p.E728V|FCRL5_uc010phw.1_Missense_Mutation_p.E643V NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 728 Extracellular (Potential).|Ig-like C2-type 7. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ATTGTCTGCCTCACAGGAGTA 0.557 46 157 --- --- --- --- PASS CENPF 1063 broad.mit.edu 37 1 214813603 214813603 + Missense_Mutation SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:214813603A>G uc001hkm.2 + 12 2096 c.1922A>G c.(1921-1923)CAG>CGG p.Q641R NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 641 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GAAAACTTGCAGAGTAAAATT 0.338 25 56 --- --- --- --- PASS RHOU 58480 broad.mit.edu 37 1 228873420 228873420 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:228873420C>A uc001htf.2 + 2 884 c.263C>A c.(262-264)GCG>GAG p.A88E NM_021205 NP_067028 Q7L0Q8 RHOU_HUMAN ras homolog gene family, member U 88 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding 0 Breast(184;0.162) Prostate(94;0.183) TGTTTTTAAGCGGTGGTGTCT 0.473 33 201 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232619559 232619559 + Nonsense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:232619559G>A uc001hvg.2 - 4 2118 c.1960C>T c.(1960-1962)CGA>TGA p.R654* NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 654 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AGCTGAGCTCGATATTTACTA 0.398 85 55 --- --- --- --- PASS GGPS1 9453 broad.mit.edu 37 1 235506071 235506071 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:235506071A>T uc001hwv.2 + 4 971 c.887A>T c.(886-888)AAA>ATA p.K296I GGPS1_uc001hww.2_Missense_Mutation_p.K296I|GGPS1_uc001hwx.2_Missense_Mutation_p.K242I|GGPS1_uc001hwy.2_Missense_Mutation_p.K296I NM_001037277 NP_001032354 O95749 GGPPS_HUMAN geranylgeranyl diphosphate synthase 1 isoform A 296 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding central_nervous_system(1) 1 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;1.39e-05) AAGATGTTCAAAGAAGAAAAT 0.338 52 35 --- --- --- --- PASS CHML 1122 broad.mit.edu 37 1 241798732 241798732 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:241798732C>A uc001hzd.2 - 1 501 c.337G>T c.(337-339)GTT>TTT p.V113F OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 113 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) ATCTCTTCAACGTTGTCCTCC 0.433 164 496 --- --- --- --- PASS ZNF238 10472 broad.mit.edu 37 1 244218085 244218085 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:244218085C>T uc001iae.2 + 1 1504 c.982C>T c.(982-984)CGG>TGG p.R328W ZNF238_uc001iad.3_Missense_Mutation_p.R337W|ZNF238_uc001iaf.1_3'UTR NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 328 Interaction with DNMT3A. negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) GGAGCTGGACCGGGAGGACAA 0.572 65 172 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343633 248343633 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:248343633G>C uc010pzf.1 + 1 346 c.346G>C c.(346-348)GCT>CCT p.A116P NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTTTCTTTTGGCTGTTATGGC 0.403 407 235 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685250 248685250 + Silent SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:248685250C>G uc001ien.1 + 1 303 c.303C>G c.(301-303)CTC>CTG p.L101L NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGCCCAGCTCTATGTGGCCA 0.542 145 125 --- --- --- --- PASS OR2T29 343563 broad.mit.edu 37 1 248722772 248722772 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:248722772C>A uc001ieo.1 - 1 3 c.3G>T c.(1-3)ATG>ATT p.M1I NM_001004694 NP_001004694 Q8NH02 O2T29_HUMAN olfactory receptor, family 2, subfamily T, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTGGTTGGCCATCCTGGTGA 0.473 22 123 --- --- --- --- PASS PGBD2 267002 broad.mit.edu 37 1 249210959 249210959 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr1:249210959C>T uc001ifh.2 + 3 323 c.176C>T c.(175-177)TCA>TTA p.S59L PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.S56L NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 59 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GATGAGGACTCAGGGGATGAA 0.542 27 106 --- --- --- --- PASS IFT172 26160 broad.mit.edu 37 2 27670407 27670407 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:27670407G>A uc002rku.2 - 42 4685 c.4634C>T c.(4633-4635)TCT>TTT p.S1545F IFT172_uc010ezb.2_RNA NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 1545 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CTGGGCTGCAGAGCGCGTGGC 0.502 80 504 --- --- --- --- PASS GALNT14 79623 broad.mit.edu 37 2 31152291 31152291 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:31152291C>T uc002rnr.2 - 11 1740 c.1121G>A c.(1120-1122)CGG>CAG p.R374Q GALNT14_uc002rnq.2_Missense_Mutation_p.R354Q|GALNT14_uc002rns.2_Missense_Mutation_p.R379Q|GALNT14_uc010ymr.1_Missense_Mutation_p.R339Q|GALNT14_uc010ezo.1_Missense_Mutation_p.R341Q NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 374 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) GGCGAATGGCCGGGCAGCGTA 0.542 4 170 --- --- --- --- PASS RASGRP3 25780 broad.mit.edu 37 2 33752408 33752408 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:33752408A>T uc002rox.2 + 11 1639 c.1012A>T c.(1012-1014)AGT>TGT p.S338C RASGRP3_uc010ync.1_Missense_Mutation_p.S338C|RASGRP3_uc002roy.2_Missense_Mutation_p.S338C NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 338 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) CGTTACCCTGAGTGAACTAGT 0.478 14 72 --- --- --- --- PASS PNPT1 87178 broad.mit.edu 37 2 55870350 55870350 + Splice_Site SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:55870350T>A uc002rzf.2 - 25 2067 c.2014_splice c.e25-1 p.Q672_splice PNPT1_uc002rzg.2_Splice_Site NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTGCTCCTGCTGTAAGTGCAA 0.284 65 62 --- --- --- --- PASS CCDC85A 114800 broad.mit.edu 37 2 56420530 56420530 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:56420530G>A uc002rzn.2 + 2 1697 c.1195G>A c.(1195-1197)GAG>AAG p.E399K NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 399 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCAGGCACAGGAGGACGGGTC 0.612 18 16 --- --- --- --- PASS ATP6V1B1 525 broad.mit.edu 37 2 71190703 71190703 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:71190703T>A uc002shj.2 + 11 1149 c.1062T>A c.(1060-1062)GAT>GAA p.D354E ATP6V1B1_uc010fdv.2_Missense_Mutation_p.D337E|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.D312E NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 354 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 TTCTTGTAGATATCACCCACC 0.562 73 59 --- --- --- --- PASS ZAP70 7535 broad.mit.edu 37 2 98351161 98351161 + Silent SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:98351161G>C uc002syd.1 + 9 1275 c.1068G>C c.(1066-1068)GTG>GTC p.V356V ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.V246V|ZAP70_uc002syf.1_Silent_p.V49V NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 356 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GCCAGGGCGTGTACCGCATGC 0.637 101 90 --- --- --- --- PASS C2orf29 55571 broad.mit.edu 37 2 101869911 101869911 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:101869911G>T uc002taw.3 + 1 567 c.485G>T c.(484-486)GGC>GTC p.G162V NM_017546 NP_060016 Q9UKZ1 CB029_HUMAN hypothetical protein LOC55571 162 Pro-rich. cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 gcccgcggcggccAGGAACCC 0.562 7 16 --- --- --- --- PASS MERTK 10461 broad.mit.edu 37 2 112755045 112755045 + Silent SNP A C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:112755045A>C uc002thk.1 + 10 1718 c.1596A>C c.(1594-1596)ACA>ACC p.T532T MERTK_uc002thl.1_Silent_p.T356T NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 532 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 TCCAGGAGACAAAGTTTGGGT 0.423 21 88 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 115200385 115200385 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:115200385C>T uc002tla.1 + 1 487 c.30C>T c.(28-30)CAC>CAT p.H10H NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 10 Mediates effects on KCND2.|Cytoplasmic (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TGTCCCATCACATCAAGTGTC 0.468 7 62 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136590717 136590717 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:136590717C>A uc002tuu.1 - 2 695 c.684G>T c.(682-684)GAG>GAT p.E228D NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 228 Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CTAGCAGGAGCTCCGGGATAT 0.488 72 494 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141004694 141004694 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:141004694G>T uc002tvj.1 - 87 14257 c.13285C>A c.(13285-13287)CCA>ACA p.P4429T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4429 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTGGGGCTGGCCTTTCACAC 0.388 TSP Lung(27;0.18) 14 45 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141115593 141115593 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:141115593G>C uc002tvj.1 - 74 12322 c.11350C>G c.(11350-11352)CTT>GTT p.L3784V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3784 Extracellular (Potential).|LDL-receptor class A 32. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGTCATCAAGTCGATCACAC 0.418 TSP Lung(27;0.18) 17 86 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141259330 141259330 + Missense_Mutation SNP G T T rs146247369 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:141259330G>T uc002tvj.1 - 55 9748 c.8776C>A c.(8776-8778)CAT>AAT p.H2926N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2926 Extracellular (Potential).|LDL-receptor class A 20.|EGF-like 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATTTATATGGCAGTTTCTC 0.408 TSP Lung(27;0.18) 36 18 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155295176 155295176 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:155295176C>T uc002tyr.3 + 12 2035 c.1468C>T c.(1468-1470)CCT>TCT p.P490S GALNT13_uc002tyt.3_Missense_Mutation_p.P490S|GALNT13_uc010fod.2_Missense_Mutation_p.T222I|uc002tyu.1_Intron NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 490 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ACTCAATGGACCTGTAATCAT 0.323 25 88 --- --- --- --- PASS IFIH1 64135 broad.mit.edu 37 2 163144789 163144789 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:163144789C>G uc002uce.2 - 5 1173 c.951G>C c.(949-951)CAG>CAC p.Q317H NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 317 Helicase ATP-binding. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 CCAAGGCTGGCTGGGCAACTT 0.478 56 53 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168106960 168106960 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:168106960G>A uc002udx.2 + 8 9076 c.9058G>A c.(9058-9060)GAA>AAA p.E3020K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2845K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2798K|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2845 Potential. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AACTCAAGCGGAAGATATGCT 0.348 25 99 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178936293 178936293 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:178936293C>A uc002ulq.2 - 1 1190 c.872G>T c.(871-873)GGG>GTG p.G291V PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 291 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TCCATGCTCCCCGACATAGCC 0.537 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 134 141 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179395577 179395577 + Silent SNP A C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:179395577A>C uc010zfg.1 - 307 98285 c.98061T>G c.(98059-98061)TCT>TCG p.S32687S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S26382S|TTN_uc010zfi.1_Silent_p.S26315S|TTN_uc010zfj.1_Silent_p.S26190S|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33614 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) AAGGTTCTGGAGATTTCACTC 0.498 30 104 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179538385 179538385 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:179538385T>A uc010zfg.1 - 147 31082 c.30858A>T c.(30856-30858)AAA>AAT p.K10286N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K6947N|TTN_uc010fre.1_Missense_Mutation_p.K794N|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11213 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) CCTCCACTTTTTTAGGAACAG 0.328 11 31 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179602984 179602984 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:179602984C>T uc010zfg.1 - 46 10688 c.10464G>A c.(10462-10464)CAG>CAA p.Q3488Q TTN_uc010zfh.1_Silent_p.Q4561Q|TTN_uc010zfi.1_Silent_p.Q4494Q|TTN_uc010zfj.1_Silent_p.Q4369Q|TTN_uc002umz.1_Silent_p.Q149Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4415 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) CTTTAAACCACTGGAACCGGA 0.478 14 14 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179666959 179666959 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:179666959G>C uc002und.2 - 3 426 c.201C>G c.(199-201)ATC>ATG p.I67M TTN_uc010zfg.1_Missense_Mutation_p.I67M|TTN_uc010zfh.1_Missense_Mutation_p.I67M|TTN_uc010zfi.1_Missense_Mutation_p.I67M|TTN_uc010zfj.1_Missense_Mutation_p.I67M|TTN_uc002unb.2_Missense_Mutation_p.I67M Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 67 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) TCACGGCGGGGATCGTCAGTT 0.547 81 89 --- --- --- --- PASS NEUROD1 4760 broad.mit.edu 37 2 182542874 182542874 + Silent SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:182542874A>G uc002uof.2 - 2 950 c.714T>C c.(712-714)CAT>CAC p.H238H CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 238 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTGGAAGACATGGGAGCTGT 0.622 104 108 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185803623 185803623 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:185803623C>T uc002uph.2 + 4 4094 c.3500C>T c.(3499-3501)CCT>CTT p.P1167L NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1167 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GTTGCTCCTCCTCAGATGCCA 0.517 183 179 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189868763 189868763 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:189868763G>T uc002uqj.1 + 39 2834 c.2717G>T c.(2716-2718)GGT>GTT p.G906V NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 906 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGGCCCCCAGGTCCTGCGGGT 0.547 10 52 --- --- --- --- PASS SLC40A1 30061 broad.mit.edu 37 2 190430288 190430288 + Silent SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:190430288G>A uc002uqp.3 - 6 903 c.552C>T c.(550-552)ACC>ACT p.T184T NM_014585 NP_055400 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated 184 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CTAAGATGTTGGTTAACTGGT 0.483 22 107 --- --- --- --- PASS PGAP1 80055 broad.mit.edu 37 2 197781209 197781209 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:197781209C>A uc002utw.2 - 3 524 c.410G>T c.(409-411)GGT>GTT p.G137V PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.G137V|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_5'UTR NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 137 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 AAGACTTCCACCATACAAAGC 0.378 12 60 --- --- --- --- PASS PGAP1 80055 broad.mit.edu 37 2 197781210 197781210 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:197781210C>A uc002utw.2 - 3 523 c.409G>T c.(409-411)GGT>TGT p.G137C PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.G137C|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_5'UTR NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 137 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 AGACTTCCACCATACAAAGCC 0.373 12 59 --- --- --- --- PASS WDR12 55759 broad.mit.edu 37 2 203748393 203748393 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:203748393G>A uc002uzl.2 - 11 1810 c.1060C>T c.(1060-1062)CAT>TAT p.H354Y WDR12_uc010ftt.2_Missense_Mutation_p.H354Y NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN WD repeat domain 12 protein 354 WD 6.|Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 TGCTGTTCATGGGTAGGAGAC 0.383 16 63 --- --- --- --- PASS NBEAL1 65065 broad.mit.edu 37 2 204078285 204078285 + Missense_Mutation SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:204078285A>G uc002uzt.3 + 54 8225 c.7892A>G c.(7891-7893)CAT>CGT p.H2631R NBEAL1_uc002uzs.3_Missense_Mutation_p.H1272R|NBEAL1_uc002uzu.2_Missense_Mutation_p.H126R NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2631 binding ovary(1)|skin(1) 2 CTGCCTATCCATTGTGTTTGT 0.363 84 79 --- --- --- --- PASS IDH1 3417 broad.mit.edu 37 2 209108187 209108187 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:209108187C>A uc002vcs.2 - 6 908 c.662G>T c.(661-663)GGG>GTG p.G221V IDH1_uc002vct.2_Missense_Mutation_p.G221V|IDH1_uc002vcu.2_Missense_Mutation_p.G221V NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 221 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TTTAAAACGCCCATCATATTT 0.343 Mis gliobastoma 19 163 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225702549 225702549 + Splice_Site SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:225702549C>A uc010fwz.1 - 25 3020 c.2781_splice c.e25-1 p.R927_splice DOCK10_uc002vob.2_Splice_Site_p.R921_splice NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GGTCAGAACCCTGCAAAAGCA 0.423 31 26 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225721669 225721669 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:225721669C>T uc010fwz.1 - 15 1955 c.1716G>A c.(1714-1716)GTG>GTA p.V572V DOCK10_uc002vob.2_Silent_p.V566V NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 572 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AGTCTCTGTCCACATTTCCCT 0.318 10 21 --- --- --- --- PASS PSMD1 5707 broad.mit.edu 37 2 231937100 231937100 + Silent SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:231937100G>T uc002vrn.1 + 7 983 c.852G>T c.(850-852)ACG>ACT p.T284T PSMD1_uc002vrm.1_Silent_p.T284T|PSMD1_uc010fxu.1_Silent_p.T148T NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 284 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) CCACTAATACGGGTACTGTTC 0.393 79 81 --- --- --- --- PASS ATG16L1 55054 broad.mit.edu 37 2 234178666 234178666 + Silent SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:234178666G>T uc002vty.2 + 6 917 c.660G>T c.(658-660)CTG>CTT p.L220L ATG16L1_uc002vtx.1_Silent_p.L76L|ATG16L1_uc002vua.2_Silent_p.L220L|ATG16L1_uc002vub.2_Silent_p.L97L|ATG16L1_uc002vtz.2_Silent_p.L76L|ATG16L1_uc002vud.3_Silent_p.L136L NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 220 Potential. autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) AAGCCCGGCTGCAGAAAGAGC 0.443 19 159 --- --- --- --- PASS DNAJB3 414061 broad.mit.edu 37 2 234652404 234652404 + Silent SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:234652404G>A uc002vuz.2 - 1 258 c.159C>T c.(157-159)TAC>TAT p.Y53Y UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron NM_001001394 NP_001001394 Q8WWF6 DNJB3_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 3 53 J. protein folding heat shock protein binding|unfolded protein binding 0 ACAACACCTCGTAGGCCTCGG 0.632 111 455 --- --- --- --- PASS TRPM8 79054 broad.mit.edu 37 2 234835254 234835254 + Silent SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:234835254G>T uc002vvh.2 + 2 112 c.72G>T c.(70-72)CTG>CTT p.L24L TRPM8_uc010fyj.2_5'UTR NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 24 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CCCGGACCCTGTACTCCAGCG 0.517 40 48 --- --- --- --- PASS ESPNL 339768 broad.mit.edu 37 2 239037448 239037448 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr2:239037448G>T uc002vxq.3 + 8 1426 c.1316G>T c.(1315-1317)CGG>CTG p.R439L ESPNL_uc010fyw.2_Missense_Mutation_p.R135L NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN espin-like 439 pancreas(1) 1 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GTGCCCACGCGGGATGAGCGC 0.706 7 3 --- --- --- --- PASS TSEN2 80746 broad.mit.edu 37 3 12531401 12531401 + Silent SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:12531401G>T uc003bxc.2 + 2 489 c.102G>T c.(100-102)CTG>CTT p.L34L TSEN2_uc003bwy.2_Silent_p.L34L|TSEN2_uc003bwz.2_Silent_p.L34L|TSEN2_uc003bxa.2_Silent_p.L34L|TSEN2_uc011auq.1_Silent_p.L34L|TSEN2_uc003bxb.2_Silent_p.L34L|TSEN2_uc011aur.1_5'UTR NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN tRNA-intron nuclease 2 isoform 1 34 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(1) 1 ATGGTCCTCTGAAAGAATTCA 0.448 4 171 --- --- --- --- PASS NEK10 152110 broad.mit.edu 37 3 27243972 27243972 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:27243972C>T uc010hfk.2 - 3 332 c.103G>A c.(103-105)GCG>ACG p.A35T NEK10_uc003cds.1_Missense_Mutation_p.A120T|NEK10_uc010hfj.2_Missense_Mutation_p.A35T Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 723 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 CTCAAAGTCGCCATCTGATAA 0.488 35 59 --- --- --- --- PASS OSBPL10 114884 broad.mit.edu 37 3 31871615 31871615 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:31871615C>A uc003cev.2 - 5 1027 c.646G>T c.(646-648)GTC>TTC p.V216F OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.1_Intron NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN oxysterol-binding protein-like protein 10 216 lipid transport lipid binding skin(1) 1 STAD - Stomach adenocarcinoma(1;0.00406) GTGATTGTGACAACACCGGGG 0.577 35 51 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38945400 38945400 + Nonsense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:38945400T>A uc011ays.1 - 12 1997 c.1798A>T c.(1798-1800)AAG>TAG p.K600* NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 600 II. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCCTCCATCTTGTGATGCTCC 0.373 4 157 --- --- --- --- PASS SCAP 22937 broad.mit.edu 37 3 47467063 47467063 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:47467063G>C uc003crh.1 - 8 1204 c.949C>G c.(949-951)CTG>GTG p.L317V SCAP_uc011baz.1_Missense_Mutation_p.L62V|SCAP_uc003crg.2_Intron NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 317 SSD.|Helical; Name=3; (Potential). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) ACGGCAGCCAGGGCCAGCCCC 0.672 48 48 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48697982 48697982 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:48697982C>G uc003cul.2 - 1 2367 c.2086G>C c.(2086-2088)GAT>CAT p.D696H CELSR3_uc003cuf.1_Missense_Mutation_p.D766H NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 696 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AAAGGAGTATCAGGTGCCACA 0.537 50 21 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48698817 48698817 + Silent SNP C T T rs111946927 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:48698817C>T uc003cul.2 - 1 1532 c.1251G>A c.(1249-1251)ACG>ACA p.T417T CELSR3_uc003cuf.1_Silent_p.T487T NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 417 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGGCCACCATCGTGGTGGCCG 0.657 36 33 --- --- --- --- PASS GRM2 2912 broad.mit.edu 37 3 51749765 51749765 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:51749765G>A uc010hlv.2 + 4 2215 c.1976G>A c.(1975-1977)CGC>CAC p.R659H GRM2_uc003dbo.3_Missense_Mutation_p.R41H|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 659 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CGCATTGCACGCATCTTCGGT 0.622 51 36 --- --- --- --- PASS FOXP1 27086 broad.mit.edu 37 3 71102787 71102787 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:71102787C>A uc003dol.2 - 4 743 c.420G>T c.(418-420)CAG>CAT p.Q140H FOXP1_uc003dom.2_Intron|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.Q140H|FOXP1_uc003dop.2_Missense_Mutation_p.Q140H|FOXP1_uc003doq.1_Missense_Mutation_p.Q140H|FOXP1_uc003doi.2_Missense_Mutation_p.Q40H|FOXP1_uc003doj.2_Missense_Mutation_p.Q40H|FOXP1_uc003dok.2_Intron NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 140 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GGACAATTACCTGTTGAAGCA 0.592 T PAX5 ALL 56 36 --- --- --- --- PASS CADM2 253559 broad.mit.edu 37 3 85961556 85961556 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:85961556G>T uc003dqj.2 + 5 1162 c.536G>T c.(535-537)CGC>CTC p.R179L CADM2_uc003dqk.2_Missense_Mutation_p.R188L|CADM2_uc003dql.2_Missense_Mutation_p.R181L NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 179 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GATGCAAATCGCAAGACATTC 0.393 28 50 --- --- --- --- PASS DTX3L 151636 broad.mit.edu 37 3 122287797 122287797 + Silent SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:122287797G>A uc003efk.2 + 3 950 c.861G>A c.(859-861)CTG>CTA p.L287L DTX3L_uc010hrj.2_Intron NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN deltex 3-like 287 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GBM - Glioblastoma multiforme(114;0.0459) CAGGTGACCTGGAAGCAGCTC 0.398 65 32 --- --- --- --- PASS PARP14 54625 broad.mit.edu 37 3 122399772 122399772 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:122399772C>T uc003efq.3 + 1 101 c.42C>T c.(40-42)TCC>TCT p.S14S NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) TCGAGGGCTCCTGGGGCCCCG 0.672 19 17 --- --- --- --- PASS PRR23B 389151 broad.mit.edu 37 3 138739139 138739139 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:138739139A>T uc003esy.1 - 1 630 c.365T>A c.(364-366)CTG>CAG p.L122Q NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 122 breast(1) 1 GTCCACTTCCAGCCCGGCAGA 0.632 65 329 --- --- --- --- PASS TERC 7012 broad.mit.edu 37 3 169482713 169482713 + RNA SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:169482713C>A uc003ffr.1 - 1 c.136G>T NR_001566 Homo sapiens cDNA clone IMAGE:40002477. 0 AGGCGGCAGGCCGAGGCTTTT 0.612 Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 14 170 --- --- --- --- PASS LRRIQ4 344657 broad.mit.edu 37 3 169540309 169540309 + Silent SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:169540309A>T uc003fgb.2 + 1 600 c.600A>T c.(598-600)ATA>ATT p.I200I NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 200 LRR 8. 0 AGAACAAAATAGGTGCCATCC 0.512 128 761 --- --- --- --- PASS SAMD7 344658 broad.mit.edu 37 3 169644948 169644948 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:169644948G>T uc003fgd.2 + 6 1165 c.898G>T c.(898-900)GTT>TTT p.V300F SAMD7_uc003fge.2_Missense_Mutation_p.V300F|SAMD7_uc011bpo.1_Missense_Mutation_p.V201F NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 300 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TTGCCCTCCAGTTCCTCGACC 0.507 468 163 --- --- --- --- PASS ZNF639 51193 broad.mit.edu 37 3 179052178 179052178 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr3:179052178A>T uc003fjq.1 + 6 1769 c.1426A>T c.(1426-1428)ATA>TTA p.I476L ZNF639_uc003fjr.1_Missense_Mutation_p.I476L NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 476 C2H2-type 8. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AAGGGAATTAATAAGTCACCT 0.308 119 50 --- --- --- --- PASS UGT2A3 79799 broad.mit.edu 37 4 69796922 69796922 + Silent SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr4:69796922T>C uc003hef.2 - 4 1066 c.1035A>G c.(1033-1035)TTA>TTG p.L345L UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 345 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 TATTGGCTCCTAATGTGGATG 0.378 32 13 --- --- --- --- PASS UGT2A3 79799 broad.mit.edu 37 4 69798458 69798458 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr4:69798458T>C uc003hef.2 - 3 915 c.884A>G c.(883-885)CAG>CGG p.Q295R UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 295 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 CCCTGAACTCTGGACAAAATT 0.338 64 36 --- --- --- --- PASS GPRIN3 285513 broad.mit.edu 37 4 90169135 90169135 + Silent SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr4:90169135G>T uc003hsm.1 - 2 2646 c.2127C>A c.(2125-2127)ATC>ATA p.I709I NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 709 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) AATGGTTCTGGATCGCGATTC 0.473 71 26 --- --- --- --- PASS ASB5 140458 broad.mit.edu 37 4 177138064 177138064 + Missense_Mutation SNP C A A rs144451873 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr4:177138064C>A uc003iuq.1 - 6 783 c.767G>T c.(766-768)GGA>GTA p.G256V ASB5_uc003iup.1_Missense_Mutation_p.G203V NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 256 ANK 6. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GATATCTGCTCCAAATTCTAG 0.413 98 57 --- --- --- --- PASS CCDC111 201973 broad.mit.edu 37 4 185606641 185606641 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr4:185606641G>T uc003iwk.2 + 10 1608 c.1175G>T c.(1174-1176)GGC>GTC p.G392V CCDC111_uc003iwj.2_Missense_Mutation_p.G391V|CCDC111_uc003iwl.2_Missense_Mutation_p.G392V|CCDC111_uc003iwm.2_Missense_Mutation_p.G263V|CCDC111_uc003iwn.2_Missense_Mutation_p.G132V NM_152683 NP_689896 Q96LW4 CC111_HUMAN coiled-coil domain containing 111 392 DNA replication, synthesis of RNA primer DNA primase activity central_nervous_system(1) 1 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) AATAAAGATGGCATTAAAGGA 0.338 54 39 --- --- --- --- PASS TARS 6897 broad.mit.edu 37 5 33461126 33461126 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:33461126G>A uc003jhy.2 + 12 1665 c.1370G>A c.(1369-1371)AGA>AAA p.R457K TARS_uc011cob.1_Missense_Mutation_p.R445K|TARS_uc010iup.1_Missense_Mutation_p.R398K|TARS_uc011coc.1_Missense_Mutation_p.R478K|TARS_uc003jhz.2_Missense_Mutation_p.R353K|TARS_uc011cod.1_Missense_Mutation_p.R336K NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 457 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) CGGGTACGAAGATTCCAACAG 0.488 213 109 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45461983 45461983 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:45461983G>A uc003jok.2 - 3 1001 c.976C>T c.(976-978)CCA>TCA p.P326S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 326 Extracellular (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CAATCTGGTGGGAAGTCCTGC 0.408 38 26 --- --- --- --- PASS TNPO1 3842 broad.mit.edu 37 5 72192363 72192363 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:72192363G>A uc003kck.3 + 19 2369 c.2222G>A c.(2221-2223)GGA>GAA p.G741E TNPO1_uc011csj.1_Missense_Mutation_p.G691E|TNPO1_uc003kch.2_Missense_Mutation_p.G733E|TNPO1_uc003kci.3_Missense_Mutation_p.G733E|TNPO1_uc003kcg.3_Missense_Mutation_p.G733E NM_002270 NP_002261 Q92973 TNPO1_HUMAN transportin 1 isoform 1 741 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1) 7 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) TGGGCAATTGGAGAAATCTCC 0.254 53 21 --- --- --- --- PASS RASGRF2 5924 broad.mit.edu 37 5 80503102 80503102 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:80503102C>T uc003kha.1 + 21 3005 c.3005C>T c.(3004-3006)TCG>TTG p.S1002L RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 1002 Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GAGTCCTTGTCGGCCATGGAG 0.572 79 35 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90074835 90074835 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:90074835G>T uc003kju.2 + 64 13099 c.13003G>T c.(13003-13005)GTT>TTT p.V4335F GPR98_uc003kjt.2_Missense_Mutation_p.V2041F|GPR98_uc003kjw.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4335 Extracellular (Potential).|Calx-beta 29. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAGTCTGCATGTTGAAATCCT 0.478 68 33 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90101179 90101179 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:90101179A>T uc003kju.2 + 72 14836 c.14740A>T c.(14740-14742)ACA>TCA p.T4914S GPR98_uc003kjt.2_Missense_Mutation_p.T2620S|GPR98_uc003kjw.2_Missense_Mutation_p.T575S NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4914 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAGGAGAGGCACATATGGAGC 0.468 49 22 --- --- --- --- PASS DMXL1 1657 broad.mit.edu 37 5 118485124 118485124 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:118485124G>T uc003ksd.2 + 18 3783 c.3602G>T c.(3601-3603)CGA>CTA p.R1201L DMXL1_uc010jcl.1_Missense_Mutation_p.R1201L NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1201 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GTACTATTACGAAGTGTGGAC 0.478 155 68 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127674728 127674728 + Silent SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:127674728A>T uc003kuu.2 - 26 3808 c.3369T>A c.(3367-3369)CCT>CCA p.P1123P FBN2_uc003kuv.2_Silent_p.P1090P NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1123 EGF-like 16; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CACAGAGGTCAGGAGAAATCC 0.458 97 36 --- --- --- --- PASS SLC27A6 28965 broad.mit.edu 37 5 128326129 128326129 + Missense_Mutation SNP T G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:128326129T>G uc003kuy.2 + 5 1337 c.941T>G c.(940-942)CTT>CGT p.L314R SLC27A6_uc003kuz.2_Missense_Mutation_p.L314R NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 314 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) ATTGGAGAACTTTGTCGCTAC 0.338 62 16 --- --- --- --- PASS PCDHA2 56146 broad.mit.edu 37 5 140175437 140175437 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:140175437T>A uc003lhd.2 + 1 994 c.888T>A c.(886-888)GAT>GAA p.D296E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.D296E|PCDHA2_uc011czy.1_Missense_Mutation_p.D296E NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 296 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACCATAGATCCCATCTCAG 0.428 193 59 --- --- --- --- PASS FBLL1 345630 broad.mit.edu 37 5 167957133 167957133 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:167957133C>T uc011dep.1 + 1 552 c.339C>T c.(337-339)GCC>GCT p.A113A NR_024356 RecName: Full=rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1; EC=2.1.1.-; 0 CCCACCGCGCCGGCCGCGATC 0.662 3 38 --- --- --- --- PASS CDHR2 54825 broad.mit.edu 37 5 176005554 176005554 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:176005554G>C uc003mem.1 + 16 1829 c.1763G>C c.(1762-1764)GGC>GCC p.G588A CDHR2_uc003men.1_Missense_Mutation_p.G588A NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 588 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GTGGTTAGCGGCTCCTACAAC 0.617 83 26 --- --- --- --- PASS BTNL8 79908 broad.mit.edu 37 5 180377501 180377501 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr5:180377501C>A uc003mmp.2 + 8 1694 c.1460C>A c.(1459-1461)TCC>TAC p.S487Y BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.S362Y|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.S371Y|BTNL8_uc011dhh.1_Missense_Mutation_p.S303Y NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 487 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTGAGTCCTCCTCACAGGCA 0.522 88 25 --- --- --- --- PASS SNRNP48 154007 broad.mit.edu 37 6 7602899 7602899 + Silent SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:7602899A>G uc003mxr.2 + 6 698 c.639A>G c.(637-639)GCA>GCG p.A213A SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN U11/U12 snRNP 48K 213 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding 0 AAATCCTGGCAGAAGTACGAG 0.308 7 27 --- --- --- --- PASS OR2B3 442184 broad.mit.edu 37 6 29054278 29054278 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:29054278G>T uc003nlx.2 - 1 813 c.748C>A c.(748-750)CTC>ATC p.L250I NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 CCATAAAAGAGGGACACCACA 0.443 38 82 --- --- --- --- PASS GTF2H4 2968 broad.mit.edu 37 6 30881678 30881678 + Nonsense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:30881678C>A uc003nsa.1 + 14 1514 c.1307C>A c.(1306-1308)TCG>TAG p.S436* GTF2H4_uc003nsb.1_Nonsense_Mutation_p.S274*|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank|VARS2_uc011dna.1_5'Flank|VARS2_uc011dnb.1_5'Flank|VARS2_uc011dnc.1_5'Flank NM_001517 NP_001508 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 436 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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 protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 TTCGAGAACTCGGCCAAGCGG 0.632 NER 20 48 --- --- --- --- PASS ANKS1A 23294 broad.mit.edu 37 6 34951166 34951166 + Missense_Mutation SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:34951166A>G uc003ojx.3 + 7 1118 c.976A>G c.(976-978)ATC>GTC p.I326V ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 326 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 GCCACCTCTCATCTCCAGTAT 0.413 127 179 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38704871 38704871 + Nonsense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:38704871C>A uc003ooe.1 + 4 740 c.140C>A c.(139-141)TCG>TAG p.S47* NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CTGGATGCGTCGAAAGGACTC 0.388 57 107 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 48036181 48036181 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:48036181C>T uc011dwm.1 - 1 245 c.160G>A c.(160-162)GAG>AAG p.E54K C6orf138_uc011dwn.1_Intron|C6orf138_uc003ozf.2_Missense_Mutation_p.E71K NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 71 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 ACCAGGCGCTCCAGGTCGCCC 0.657 66 86 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69666693 69666693 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:69666693G>A uc003pev.3 + 8 1965 c.1517G>A c.(1516-1518)CGA>CAA p.R506Q BAI3_uc010kak.2_Missense_Mutation_p.R506Q NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 506 TSP type-1 4.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R506R(1) lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AATGAGCAGCGATGCCCTGGT 0.428 53 62 --- --- --- --- PASS C6orf204 387119 broad.mit.edu 37 6 118887133 118887133 + Silent SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:118887133T>C uc003pxz.1 - 3 1167 c.579A>G c.(577-579)ACA>ACG p.T193T C6orf204_uc003pya.1_Silent_p.T196T|C6orf204_uc003pyb.2_Silent_p.T193T|C6orf204_uc011ebj.1_Silent_p.T91T|C6orf204_uc003pyc.2_Silent_p.T196T|C6orf204_uc011ebl.1_Silent_p.T91T NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 193 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TCAGTTGTGATGTTAAAGCCT 0.453 93 131 --- --- --- --- PASS RNF146 81847 broad.mit.edu 37 6 127608771 127608771 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:127608771G>A uc003qav.2 + 3 1172 c.1013G>A c.(1012-1014)GGT>GAT p.G338D RNF146_uc003qat.2_Missense_Mutation_p.G337D|RNF146_uc003qau.2_Missense_Mutation_p.G337D|RNF146_uc003qaw.2_Missense_Mutation_p.G337D NM_030963 NP_112225 Q9NTX7 RN146_HUMAN ring finger protein 146 338 positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2) GTAGCAGGGGGTGGAACAGTG 0.468 39 98 --- --- --- --- PASS TAAR5 9038 broad.mit.edu 37 6 132910270 132910270 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:132910270T>A uc003qdk.2 - 1 608 c.556A>T c.(556-558)ATG>TTG p.M186L NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 186 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) ACACAAGGCATCTCTTCCAGC 0.512 34 47 --- --- --- --- PASS REPS1 85021 broad.mit.edu 37 6 139247564 139247564 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:139247564C>A uc003qii.2 - 10 1891 c.1312G>T c.(1312-1314)GAT>TAT p.D438Y REPS1_uc003qig.3_Intron|REPS1_uc011edr.1_Missense_Mutation_p.D438Y|REPS1_uc003qij.2_Intron|REPS1_uc003qik.2_Intron NM_031922 NP_114128 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 438 coated pit|plasma membrane calcium ion binding|SH3 domain binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) ATGTTAGAATCAAATTGGGTC 0.388 6 23 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 145124203 145124203 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:145124203G>A uc003qkt.2 + 64 9369 c.9277G>A c.(9277-9279)GTC>ATC p.V3093I NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 3093 Interaction with SYNM.|ZZ-type. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TAACTATGATGTCTGCCAGAG 0.343 20 34 --- --- --- --- PASS LRP11 84918 broad.mit.edu 37 6 150141797 150141797 + Missense_Mutation SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:150141797A>G uc003qng.2 - 7 1715 c.1391T>C c.(1390-1392)CTG>CCG p.L464P NM_032832 NP_116221 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 464 Helical; (Potential). integral to membrane receptor activity 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) GAGAAGCAGCAGAGCAGTGAT 0.498 21 15 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151914353 151914353 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:151914353G>T uc003qol.2 + 8 1494 c.1405G>T c.(1405-1407)GTT>TTT p.V469F NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 469 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) AGAGCAGCTGGTTCGTCTTGA 0.458 47 85 --- --- --- --- PASS PACRG 135138 broad.mit.edu 37 6 163510373 163510373 + Silent SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:163510373G>T uc003qua.2 + 5 770 c.546G>T c.(544-546)GTG>GTT p.V182V PACRG_uc003qub.2_Silent_p.V182V|PACRG_uc003quc.2_Silent_p.V182V NM_152410 NP_689623 Q96M98 PACRG_HUMAN parkin co-regulated gene protein isoform 1 182 0 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) CTGAGATGGTGGGCAAGGCCT 0.468 83 113 --- --- --- --- PASS UNC93A 54346 broad.mit.edu 37 6 167728850 167728850 + Silent SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:167728850G>T uc003qvq.2 + 8 1459 c.1284G>T c.(1282-1284)GTG>GTT p.V428V UNC93A_uc003qvr.2_Silent_p.V386V NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 428 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ATGGGCTTGTGGAGTGCGTGG 0.537 240 619 --- --- --- --- PASS TTLL2 83887 broad.mit.edu 37 6 167753874 167753874 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:167753874C>A uc003qvs.1 + 3 574 c.486C>A c.(484-486)CAC>CAA p.H162Q TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 162 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGGCCAAACACCTGAAGCACA 0.502 51 71 --- --- --- --- PASS TBP 6908 broad.mit.edu 37 6 170871073 170871073 + Silent SNP G A A rs71010673 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:170871073G>A uc003qxt.2 + 3 481 c.249G>A c.(247-249)CAG>CAA p.Q83Q TBP_uc003qxu.2_Silent_p.Q83Q|TBP_uc011ehf.1_Silent_p.Q63Q|TBP_uc011ehg.1_Silent_p.Q83Q NM_003194 NP_003185 P20226 TBP_HUMAN TATA box binding protein 83 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.184 2 1 --- --- --- --- PASS TTYH3 80727 broad.mit.edu 37 7 2692645 2692645 + Splice_Site SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:2692645G>T uc003smp.2 + 9 1207 c.1020_splice c.e9+1 p.K340_splice TTYH3_uc010ksn.2_Splice_Site_p.K60_splice|TTYH3_uc003smq.2_Splice_Site_p.K169_splice NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GGCCACTAAGGTGAGGGGCTG 0.597 7 11 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11486857 11486857 + Nonsense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:11486857C>A uc003ssf.3 - 12 3052 c.2800G>T c.(2800-2802)GGA>TGA p.G934* NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 934 TSP type-1 9.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTATTCTTACCAACAAGAGTG 0.428 HNSCC(18;0.044) 35 33 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11509548 11509548 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:11509548G>A uc003ssf.3 - 9 2578 c.2326C>T c.(2326-2328)CCA>TCA p.P776S NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 776 TSP type-1 8.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCACTATATGGGGTCACAATA 0.463 HNSCC(18;0.044) 5 8 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11521576 11521576 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:11521576G>A uc003ssf.3 - 7 2108 c.1856C>T c.(1855-1857)GCC>GTC p.A619V NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 619 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGGGAAGATGGCATCTCTGCA 0.493 HNSCC(18;0.044) 4 122 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18705957 18705957 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:18705957C>T uc003suh.2 + 11 1621 c.1580C>T c.(1579-1581)ACT>ATT p.T527I HDAC9_uc003sue.2_Missense_Mutation_p.T527I|HDAC9_uc011jyd.1_Missense_Mutation_p.T527I|HDAC9_uc003sui.2_Missense_Mutation_p.T530I|HDAC9_uc003suj.2_Missense_Mutation_p.T486I|HDAC9_uc011jya.1_Missense_Mutation_p.T524I|HDAC9_uc003sua.1_Missense_Mutation_p.T505I|HDAC9_uc011jyb.1_Missense_Mutation_p.T483I|HDAC9_uc003sud.1_Missense_Mutation_p.T527I|HDAC9_uc011jyc.1_Missense_Mutation_p.T486I|HDAC9_uc003suf.1_Missense_Mutation_p.T558I|HDAC9_uc010kud.1_Missense_Mutation_p.T530I|HDAC9_uc011jye.1_Missense_Mutation_p.T499I|HDAC9_uc011jyf.1_Missense_Mutation_p.T450I|HDAC9_uc010kue.1_Intron NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 527 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) GGCAACAGCACTAGGAGCGAC 0.557 OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 126 95 --- --- --- --- PASS SCRN1 9805 broad.mit.edu 37 7 29980442 29980442 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:29980442C>A uc010kvp.2 - 4 799 c.595G>T c.(595-597)GCA>TCA p.A199S SCRN1_uc011jzy.1_Missense_Mutation_p.A131S|SCRN1_uc003tak.2_Missense_Mutation_p.A199S|SCRN1_uc011jzz.1_Missense_Mutation_p.A199S|SCRN1_uc011kaa.1_Missense_Mutation_p.A219S|SCRN1_uc011jzw.1_Intron|SCRN1_uc011jzx.1_Missense_Mutation_p.A22S NM_001145515 NP_001138987 Q12765 SCRN1_HUMAN secernin 1 isoform c 199 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity ovary(2) 2 GGATGCTCTGCATCCATCTTA 0.473 6 454 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31132311 31132311 + Missense_Mutation SNP G T T rs139752068 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:31132311G>T uc003tca.1 + 13 1231 c.1008G>T c.(1006-1008)CAG>CAT p.Q336H ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.Q315H|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.Q336H|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.Q336H|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.Q336H|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.Q38H NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 336 Cytoplasmic (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 AGAAACTTCAGTCTCCAGACA 0.458 100 86 --- --- --- --- PASS SAMD9L 219285 broad.mit.edu 37 7 92760803 92760803 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:92760803C>A uc003umh.1 - 5 5698 c.4482G>T c.(4480-4482)GAG>GAT p.E1494D SAMD9L_uc003umj.1_Missense_Mutation_p.E1494D|SAMD9L_uc003umi.1_Missense_Mutation_p.E1494D|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1494D|SAMD9L_uc003umk.1_Missense_Mutation_p.E1494D|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1494D|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1494D|SAMD9L_uc011khx.1_3'UTR NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1494 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CAAAGTACTGCTCTATTTTGG 0.448 16 314 --- --- --- --- PASS PON1 5444 broad.mit.edu 37 7 94937448 94937448 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:94937448T>A uc003uns.2 - 6 670 c.573A>T c.(571-573)TTA>TTT p.L191F PON1_uc011kih.1_Missense_Mutation_p.L191F NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 191 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) CCCAGGATTGTAAGTAGGGGT 0.393 112 80 --- --- --- --- PASS ARPC1A 10552 broad.mit.edu 37 7 98955993 98955993 + Silent SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:98955993G>T uc003upx.1 + 7 891 c.744G>T c.(742-744)CCG>CCT p.P248P ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Silent_p.P234P|ARPC1A_uc011kit.1_RNA NM_006409 NP_006400 Q92747 ARC1A_HUMAN actin related protein 2/3 complex subunit 1A 248 WD 5. actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding ovary(1) 1 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) AGTTCCTGCCGCTCCTAAGTG 0.468 166 147 --- --- --- --- PASS STAG3 10734 broad.mit.edu 37 7 99795708 99795708 + Splice_Site SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:99795708A>G uc003utx.1 + 12 1320 c.1165_splice c.e12-2 p.D389_splice STAG3_uc010lgs.1_Splice_Site_p.D177_splice|STAG3_uc011kjk.1_Splice_Site_p.D331_splice|STAG3_uc003uub.1_5'Flank NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCTTTCTGCAGGACCGGATG 0.458 46 178 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100350489 100350489 + Missense_Mutation SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:100350489A>G uc003uwj.2 + 14 2926 c.2761A>G c.(2761-2763)ACC>GCC p.T921A ZAN_uc003uwk.2_Missense_Mutation_p.T921A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 921 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) GGAAAAACCCACCATCCCCAC 0.502 94 248 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173378 126173378 + Silent SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:126173378C>G uc003vlr.2 - 8 2369 c.2058G>C c.(2056-2058)GCG>GCC p.A686A GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.A686A|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 686 Cytoplasmic (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) TGAACTTGGGCGCTGTGACAG 0.507 HNSCC(24;0.065) 49 40 --- --- --- --- PASS OR6B1 135946 broad.mit.edu 37 7 143701539 143701539 + Silent SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:143701539C>A uc003wdt.1 + 1 450 c.450C>A c.(448-450)GCC>GCA p.A150A NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) GTTCCTGGGCCATTGGCTTTG 0.552 53 24 --- --- --- --- PASS TMEM176B 28959 broad.mit.edu 37 7 150489160 150489160 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:150489160T>C uc003wht.3 - 6 870 c.704A>G c.(703-705)CAG>CGG p.Q235R TMEM176B_uc003whu.3_Missense_Mutation_p.Q235R|TMEM176B_uc003whv.3_Missense_Mutation_p.Q198R|TMEM176B_uc003whw.3_Missense_Mutation_p.Q235R NM_001101313 NP_001094783 Q3YBM2 T176B_HUMAN transmembrane protein 176B isoform a 235 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGGGAGCTCTGGCCACACAA 0.597 99 95 --- --- --- --- PASS UBE3C 9690 broad.mit.edu 37 7 157041102 157041102 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:157041102G>T uc010lqs.2 + 19 2834 c.2522G>T c.(2521-2523)GGC>GTC p.G841V UBE3C_uc003wni.3_Missense_Mutation_p.G204V NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 841 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CCCTTTGCAGGCTTCTTTCTT 0.468 149 356 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43147734 43147734 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:43147734G>T uc003xpz.1 + 1 150 c.107G>T c.(106-108)AGG>ATG p.R36M POTEA_uc003xqa.1_Missense_Mutation_p.R36M NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 36 ovary(1) 1 CCCTGCTGCAGGGGAAGCGGC 0.592 126 58 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52323825 52323825 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:52323825C>A uc003xqu.3 - 16 2148 c.2047G>T c.(2047-2049)GAC>TAC p.D683Y PXDNL_uc003xqt.3_5'Flank NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 683 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCTTCCAAGTCCACAGTGAGC 0.507 13 4 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69012004 69012004 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:69012004C>T uc003xxv.1 + 23 2668 c.2641C>T c.(2641-2643)CTT>TTT p.L881F PREX2_uc003xxu.1_Missense_Mutation_p.L881F|PREX2_uc011lez.1_Missense_Mutation_p.L816F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 881 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TCCTACTGACCTTCAGAGTAA 0.353 4 187 --- --- --- --- PASS PRDM14 63978 broad.mit.edu 37 8 70980718 70980718 + Silent SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:70980718T>C uc003xym.2 - 3 952 c.750A>G c.(748-750)CCA>CCG p.P250P NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GCCTACCTTCTGGAAGTTGAA 0.413 148 37 --- --- --- --- PASS IMPA1 3612 broad.mit.edu 37 8 82572769 82572769 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:82572769C>T uc003ych.2 - 8 827 c.700G>A c.(700-702)GTG>ATG p.V234M IMPA1_uc011lfq.1_Missense_Mutation_p.V293M|IMPA1_uc011lfr.1_Silent_p.A197A NM_005536 NP_005527 P29218 IMPA1_HUMAN inositol(myo)-1(or 4)-monophosphatase 1 isoform 234 inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(1) 1 Lithium(DB01356) TCCATTAGCACGCCACCAGCT 0.418 86 31 --- --- --- --- PASS NBN 4683 broad.mit.edu 37 8 90996768 90996768 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:90996768C>T uc003yej.1 - 1 132 c.22G>A c.(22-24)GCG>ACG p.A8T NBN_uc003yei.1_5'UTR|NBN_uc011lgb.1_Missense_Mutation_p.A8T NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 8 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) GCCGGGCCCGCGGCGGGCAGC 0.706 Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome OREG0018856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 36 --- --- --- --- PASS RRM2B 50484 broad.mit.edu 37 8 103226340 103226340 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:103226340T>C uc003ykn.2 - 7 975 c.731A>G c.(730-732)AAT>AGT p.N244S RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.N192S|RRM2B_uc010mbw.1_Missense_Mutation_p.N32S|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron NM_015713 NP_056528 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 244 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding ovary(2) 2 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) TGAAGGCTTATTTACTAAGTA 0.378 Direct_reversal_of_damage|Modulation_of_nucleotide_pools 98 21 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110476887 110476887 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:110476887G>A uc003yne.2 + 49 7930 c.7826G>A c.(7825-7827)GGC>GAC p.G2609D NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2609 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTTCCCCTTGGCGAATTTTTT 0.438 HNSCC(38;0.096) 186 53 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110477141 110477141 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:110477141G>A uc003yne.2 + 49 8184 c.8080G>A c.(8080-8082)GGA>AGA p.G2694R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2694 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCCTTATGTTGGAGGGTGGGG 0.463 HNSCC(38;0.096) 144 57 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113308161 113308161 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:113308161C>A uc003ynu.2 - 54 8674 c.8515G>T c.(8515-8517)GTT>TTT p.V2839F CSMD3_uc003yns.2_Missense_Mutation_p.V2041F|CSMD3_uc003ynt.2_Missense_Mutation_p.V2799F|CSMD3_uc011lhx.1_Missense_Mutation_p.V2670F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2839 Extracellular (Potential).|Sushi 18. 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 TGATATACAACTGTGTCTCTA 0.388 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 59 14 --- --- --- --- PASS TNFRSF11B 4982 broad.mit.edu 37 8 119938863 119938863 + Silent SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:119938863G>T uc003yon.3 - 4 1010 c.687C>A c.(685-687)GGC>GGA p.G229G TNFRSF11B_uc010mdc.1_RNA NM_002546 NP_002537 O00300 TR11B_HUMAN osteoprotegerin precursor 229 Death 1. apoptosis|skeletal system development cytokine activity|receptor activity central_nervous_system(2) 2 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) TTACTTTGGTGCCAGGCAAAT 0.438 145 42 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8465650 8465650 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:8465650C>A uc003zkk.2 - 31 4241 c.3530G>T c.(3529-3531)CGC>CTC p.R1177L PTPRD_uc003zkp.2_Missense_Mutation_p.R766L|PTPRD_uc003zkq.2_Missense_Mutation_p.R766L|PTPRD_uc003zkr.2_Missense_Mutation_p.R761L|PTPRD_uc003zks.2_Missense_Mutation_p.R756L|PTPRD_uc003zkl.2_Missense_Mutation_p.R1168L|PTPRD_uc003zkm.2_Missense_Mutation_p.R1164L|PTPRD_uc003zkn.2_Missense_Mutation_p.R766L|PTPRD_uc003zko.2_Missense_Mutation_p.R763L NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1177 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GATGCTTCTGCGCTTCCTAGA 0.393 TSP Lung(15;0.13) 24 62 --- --- --- --- PASS SLC24A2 25769 broad.mit.edu 37 9 19550241 19550241 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:19550241G>A uc003zoa.1 - 7 1435 c.1373C>T c.(1372-1374)CCT>CTT p.P458L SLC24A2_uc003zob.1_Missense_Mutation_p.P441L NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 458 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) AAGGCTGAGAGGCTGGTCCTC 0.458 78 134 --- --- --- --- PASS IFNA10 3446 broad.mit.edu 37 9 21206861 21206861 + Missense_Mutation SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:21206861A>G uc003zoq.1 - 1 282 c.236T>C c.(235-237)GTC>GCC p.V79A IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 79 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) CTCATGGAGGACAGAGATGGC 0.488 3 120 --- --- --- --- PASS LRRC19 64922 broad.mit.edu 37 9 26997838 26997838 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:26997838A>T uc003zqh.2 - 3 594 c.483T>A c.(481-483)GAT>GAA p.D161E IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron NM_022901 NP_075052 Q9H756 LRC19_HUMAN leucine rich repeat containing 19 precursor 161 LRR 5.|Extracellular (Potential). integral to membrane 0 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) GTGGTGGTACATCCAAATAGC 0.353 47 88 --- --- --- --- PASS DNAI1 27019 broad.mit.edu 37 9 34506780 34506780 + Missense_Mutation SNP A C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:34506780A>C uc003zum.2 + 13 1412 c.1219A>C c.(1219-1221)AAC>CAC p.N407H NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 407 WD 1. cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CTATGACGGCAACGTGGCCAT 0.582 Kartagener_syndrome 35 93 --- --- --- --- PASS UNC13B 10497 broad.mit.edu 37 9 35313984 35313984 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:35313984G>A uc003zwq.2 + 10 1457 c.1165G>A c.(1165-1167)GAG>AAG p.E389K UNC13B_uc010mkl.1_Missense_Mutation_p.E389K|UNC13B_uc003zwr.2_Missense_Mutation_p.E389K NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 389 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CCAGCTGCAGGAGGTAGGAAA 0.443 49 74 --- --- --- --- PASS UNC13B 10497 broad.mit.edu 37 9 35385807 35385807 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:35385807G>A uc003zwq.2 + 22 3007 c.2715G>A c.(2713-2715)ATG>ATA p.M905I UNC13B_uc003zwr.2_Missense_Mutation_p.M905I NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 905 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TCTTCAGAATGAAGGTAAGAA 0.483 35 79 --- --- --- --- PASS UNC13B 10497 broad.mit.edu 37 9 35397239 35397239 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:35397239G>C uc003zwq.2 + 28 3653 c.3361G>C c.(3361-3363)GAG>CAG p.E1121Q UNC13B_uc003zwr.2_Missense_Mutation_p.E1121Q NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 1121 MHD1. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TCAGAGCTTTGAGATCATCCG 0.512 100 170 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73442860 73442860 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:73442860G>T uc004aid.2 - 6 1120 c.876C>A c.(874-876)TTC>TTA p.F292L TRPM3_uc004ahu.2_Missense_Mutation_p.F122L|TRPM3_uc004ahv.2_Missense_Mutation_p.F122L|TRPM3_uc004ahw.2_Missense_Mutation_p.F139L|TRPM3_uc004ahx.2_Missense_Mutation_p.F139L|TRPM3_uc004ahy.2_Missense_Mutation_p.F139L|TRPM3_uc004ahz.2_Missense_Mutation_p.F139L|TRPM3_uc004aia.2_Missense_Mutation_p.F139L|TRPM3_uc004aib.2_Missense_Mutation_p.F139L|TRPM3_uc004aic.2_Missense_Mutation_p.F292L|TRPM3_uc010mor.2_Missense_Mutation_p.F292L|TRPM3_uc004aie.2_Missense_Mutation_p.F139L|TRPM3_uc004aif.2_Missense_Mutation_p.F139L|TRPM3_uc004aig.2_Missense_Mutation_p.F139L|TRPM3_uc004aii.2_Missense_Mutation_p.F294L NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 292 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CAGCCAGAATGAAGTGGGAAT 0.468 84 180 --- --- --- --- PASS SLC28A3 64078 broad.mit.edu 37 9 86900906 86900906 + Silent SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:86900906G>C uc010mpz.2 - 13 1526 c.1401C>G c.(1399-1401)GCC>GCG p.A467A SLC28A3_uc011lsy.1_Silent_p.A398A|SLC28A3_uc004anu.1_Silent_p.A467A NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 467 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 ACCAGGACAGGGCTGAATTCA 0.493 19 31 --- --- --- --- PASS NOL8 55035 broad.mit.edu 37 9 95078179 95078179 + Missense_Mutation SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:95078179A>G uc004arv.2 - 7 1065 c.728T>C c.(727-729)ATA>ACA p.I243T NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.I175T NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 243 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 TGGTCTCTCTATTACCCTCCT 0.453 28 55 --- --- --- --- PASS C9orf3 84909 broad.mit.edu 37 9 97522859 97522859 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:97522859G>T uc004ava.2 + 1 929 c.794G>T c.(793-795)GGC>GTC p.G265V C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.G265V|C9orf3_uc004auy.2_Missense_Mutation_p.G265V|C9orf3_uc004auz.1_Missense_Mutation_p.G265V NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 265 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GACCAGAGTGGCAGGTAGGTT 0.507 18 42 --- --- --- --- PASS C9orf102 375748 broad.mit.edu 37 9 98735335 98735335 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:98735335A>T uc010mry.1 + 15 3529 c.2441A>T c.(2440-2442)CAA>CTA p.Q814L C9orf102_uc004avu.2_Missense_Mutation_p.Q392L|uc010msa.1_Missense_Mutation_p.Q82L|uc011lun.1_Missense_Mutation_p.Q82L Q5T890 RAD26_HUMAN RecName: Full=Putative DNA repair and recombination protein RAD26-like; EC=3.6.1.-; Error:Variant_position_missing_in_Q5T890_after_alignment DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) GTTGTTAATCAAGAGCAGTCG 0.274 4 6 --- --- --- --- PASS ANKS6 203286 broad.mit.edu 37 9 101552494 101552494 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:101552494C>T uc004ayu.2 - 2 775 c.754G>A c.(754-756)GAC>AAC p.D252N ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 252 ANK 6. ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) CTGAGGTGGTCAGGGTTGGCG 0.672 79 172 --- --- --- --- PASS DFNB31 25861 broad.mit.edu 37 9 117186785 117186785 + Silent SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:117186785C>G uc004biz.3 - 6 1894 c.1245G>C c.(1243-1245)CTG>CTC p.L415L DFNB31_uc004bix.2_Silent_p.L64L|DFNB31_uc004biy.3_Silent_p.L32L|DFNB31_uc004bja.3_Silent_p.L415L NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 415 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 CCAGGCTGCTCAGGGTCACCT 0.587 41 58 --- --- --- --- PASS TSC1 7248 broad.mit.edu 37 9 135772642 135772642 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:135772642C>A uc004cca.2 - 22 3138 c.2904G>T c.(2902-2904)AGG>AGT p.R968S TSC1_uc004ccb.3_Missense_Mutation_p.R967S|TSC1_uc011mcq.1_Missense_Mutation_p.R917S|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 968 Potential. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CTTTCTCCAACCTGCCATATA 0.438 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 193 276 --- --- --- --- PASS QSOX2 169714 broad.mit.edu 37 9 139137450 139137450 + Missense_Mutation SNP T G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr9:139137450T>G uc010nbi.2 - 1 238 c.200A>C c.(199-201)GAC>GCC p.D67A NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 67 Thioredoxin. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) GCTGCCGCTGTCCAGCACCCA 0.557 4 20 --- --- --- --- PASS ITIH5 80760 broad.mit.edu 37 10 7659226 7659226 + Silent SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:7659226T>A uc001ijq.2 - 6 751 c.672A>T c.(670-672)CCA>CCT p.P224P ITIH5_uc001ijp.2_Silent_p.P10P|ITIH5_uc001ijr.1_Silent_p.P224P NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 224 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TGACAGTAGATGGGGGAGGCC 0.338 58 12 --- --- --- --- PASS C1QL3 389941 broad.mit.edu 37 10 16563058 16563058 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:16563058G>T uc001ioj.1 - 1 947 c.7C>A c.(7-9)CTG>ATG p.L3M NM_001010908 NP_001010908 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 3 collagen ovary(1) 1 ACCAGCAGCAGCACCATCACC 0.692 18 2 --- --- --- --- PASS ST8SIA6 338596 broad.mit.edu 37 10 17369080 17369080 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:17369080C>T uc001ipd.2 - 6 568 c.568G>A c.(568-570)GGA>AGA p.G190R ST8SIA6_uc010qce.1_Intron NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 190 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 CCCCCATTTCCGACCACTGCA 0.393 51 22 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30317316 30317316 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:30317316C>T uc001iux.2 - 2 1820 c.1761G>A c.(1759-1761)GTG>GTA p.V587V KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.V449V|KIAA1462_uc009xle.1_Silent_p.V587V NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 587 ovary(4) 4 ATTCTGATTTCACTGGGATAG 0.413 199 213 --- --- --- --- PASS SLC18A3 6572 broad.mit.edu 37 10 50818900 50818900 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:50818900C>G uc001jhw.2 + 1 554 c.114C>G c.(112-114)ATC>ATG p.I38M CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 38 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 TGCTTGTTATCGTGTGCGTGG 0.697 26 50 --- --- --- --- PASS UBE2D1 7321 broad.mit.edu 37 10 60124635 60124635 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:60124635A>T uc001jke.1 + 5 526 c.303A>T c.(301-303)AAA>AAT p.K101N NM_003338 NP_003329 P51668 UB2D1_HUMAN ubiquitin-conjugating enzyme E2D 1 101 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity skin(2) 2 CTGTATCAAAAGGTAATTTCA 0.338 40 113 --- --- --- --- PASS SUPV3L1 6832 broad.mit.edu 37 10 70960234 70960234 + Silent SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:70960234G>A uc001jpe.1 + 11 1552 c.1497G>A c.(1495-1497)AAG>AAA p.K499K SUPV3L1_uc010qjd.1_Silent_p.K368K NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 499 Helicase C-terminal. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 AAATTTTGAAGAGGCCTGTGG 0.438 14 158 --- --- --- --- PASS CHST3 9469 broad.mit.edu 37 10 73767080 73767080 + Silent SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:73767080C>A uc001jsn.2 + 3 731 c.291C>A c.(289-291)CTC>CTA p.L97L NM_004273 NP_004264 Q7LGC8 CHST3_HUMAN chondroitin 6-sulfotransferase 3 97 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity 0 TCCGCAACCTCAGCTTGCAGC 0.647 12 69 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87966225 87966225 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:87966225T>C uc001kdl.1 - 3 517 c.416A>G c.(415-417)TAC>TGC p.Y139C GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 139 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) AGCCAGTGTGTAGGCCTCACC 0.622 Multiple Myeloma(13;0.14) 111 41 --- --- --- --- PASS PIK3AP1 118788 broad.mit.edu 37 10 98412549 98412549 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:98412549C>T uc001kmq.2 - 4 746 c.618G>A c.(616-618)GTG>GTA p.V206V PIK3AP1_uc001kmp.2_Silent_p.V28V NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 206 DBB. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CTTCTGTCGCCACCCTGTCAT 0.507 183 96 --- --- --- --- PASS DHDPSL 112817 broad.mit.edu 37 10 99359443 99359443 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:99359443G>C uc001kny.2 + 4 834 c.475G>C c.(475-477)GAT>CAT p.D159H DHDPSL_uc001knx.2_3'UTR|DHDPSL_uc001knz.2_Intron|PI4K2A_uc010qoy.1_Intron NM_138413 NP_612422 Q86XE5 HOGA1_HUMAN DHDPS-like protein isoform 1 159 glyoxylate catabolic process mitochondrion 4-hydroxy-2-oxoglutarate aldolase activity 0 CCAGGTTGCTGATCTCTCTCC 0.622 103 333 --- --- --- --- PASS HPS6 79803 broad.mit.edu 37 10 103826716 103826716 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:103826716G>T uc001kuj.2 + 1 1570 c.1485G>T c.(1483-1485)AGG>AGT p.R495S NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 495 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GCCTGCTGAGGACTGAGTTGA 0.622 Hermansky-Pudlak_syndrome 109 42 --- --- --- --- PASS C10orf79 80217 broad.mit.edu 37 10 105932195 105932195 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:105932195A>T uc001kxw.2 - 20 2675 c.2559T>A c.(2557-2559)CAT>CAA p.H853Q C10orf79_uc009xxq.2_Missense_Mutation_p.H161Q|C10orf79_uc001kxx.3_Missense_Mutation_p.H854Q NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 853 Potential. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) GACTTTCATCATGAAGCCTTT 0.323 66 24 --- --- --- --- PASS ADAM12 8038 broad.mit.edu 37 10 128019004 128019004 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:128019004G>T uc001ljk.2 - 2 576 c.163C>A c.(163-165)CCA>ACA p.P55T ADAM12_uc010qul.1_Missense_Mutation_p.P55T|ADAM12_uc001ljm.2_Missense_Mutation_p.P55T|ADAM12_uc001ljn.2_Missense_Mutation_p.P55T|ADAM12_uc001ljl.3_Missense_Mutation_p.P55T NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 55 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CTCTTCACTGGGATCCAGAGG 0.473 185 51 --- --- --- --- PASS GLRX3 10539 broad.mit.edu 37 10 131958274 131958274 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:131958274G>T uc001lkm.1 + 3 239 c.217G>T c.(217-219)GTT>TTT p.V73F GLRX3_uc001lkn.1_Missense_Mutation_p.V73F|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 73 Thioredoxin. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) AGCTGAAGGTGTTCCTGAAGT 0.323 64 23 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 10 134648195 134648195 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:134648195G>T uc010qux.1 - 40 6007 c.6007C>A c.(6007-6009)CAG>AAG p.Q2003K NM_017609 NP_060079 Homo sapiens cDNA, FLJ17989. AATAGCGGCTGCAGAAGCTCC 0.622 32 21 --- --- --- --- PASS OR51G2 81282 broad.mit.edu 37 11 4936530 4936530 + Missense_Mutation SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr11:4936530A>G uc001lzr.1 - 1 364 c.364T>C c.(364-366)TCT>CCT p.S122P NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 122 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AAGGCCATAGACAGTAGCACA 0.502 39 16 --- --- --- --- PASS OR56A1 120796 broad.mit.edu 37 11 6048462 6048462 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr11:6048462C>T uc010qzw.1 - 1 473 c.473G>A c.(472-474)CGG>CAG p.R158Q NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGCGCATTCCGCACCACAAT 0.493 91 41 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861369 55861369 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr11:55861369A>T uc010rix.1 + 1 586 c.586A>T c.(586-588)ATG>TTG p.M196L NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) CGGCACAGAAATGGTGAGCTT 0.428 6 185 --- --- --- --- PASS OR9Q1 219956 broad.mit.edu 37 11 57947664 57947664 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr11:57947664T>C uc001nmj.2 + 3 1064 c.748T>C c.(748-750)TTC>CTC p.F250L NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) TGTGTCACTCTTCTTTGGTAC 0.517 205 90 --- --- --- --- PASS MS4A12 54860 broad.mit.edu 37 11 60264962 60264962 + Silent SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr11:60264962G>A uc001npr.2 + 2 228 c.171G>A c.(169-171)CCG>CCA p.P57P MS4A12_uc009ynb.2_Silent_p.P57P NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 57 Cytoplasmic (Potential). integral to membrane receptor activity 0 TCACATCTCCGGGAATCTTTG 0.463 4 126 --- --- --- --- PASS SPTBN2 6712 broad.mit.edu 37 11 66483365 66483365 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr11:66483365T>C uc001ojd.2 - 3 317 c.245A>G c.(244-246)TAC>TGC p.Y82C NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 82 CH 1.|Actin-binding. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GAGGTCGCTGTACAGGTCCCC 0.612 99 34 --- --- --- --- PASS UCP3 7352 broad.mit.edu 37 11 73717342 73717342 + Missense_Mutation SNP C T T rs58614015 by1000genomes TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr11:73717342C>T uc001our.2 - 3 564 c.209G>A c.(208-210)CGG>CAG p.R70Q UCP3_uc001ous.2_Missense_Mutation_p.R70Q NM_003356 NP_003347 P55916 UCP3_HUMAN uncoupling protein 3 isoform UCP3L 70 Solcar 1. mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding pancreas(1) 1 Breast(11;2.08e-05) ACCCTCAGTCCGCACCATGGT 0.657 32 12 --- --- --- --- PASS OR10G4 390264 broad.mit.edu 37 11 123886786 123886786 + Nonsense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr11:123886786G>T uc010sac.1 + 1 505 c.505G>T c.(505-507)GGA>TGA p.G169* NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GCCCTACTGTGGACCCAACCA 0.567 213 118 --- --- --- --- PASS OR8B2 26595 broad.mit.edu 37 11 124253171 124253171 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr11:124253171G>T uc010sai.1 - 1 69 c.69C>A c.(67-69)TTC>TTA p.F23L OR8B2_uc001qab.3_RNA NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 23 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) GGGGTTGCCGGAACTCTGGAT 0.413 59 242 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9268360 9268360 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:9268360G>T uc001qvk.1 - 1 199 c.86C>A c.(85-87)CCG>CAG p.P29Q A2M_uc009zgk.1_5'UTR NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 29 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) TGGAACTCACGGTTTTCCAGA 0.443 68 35 --- --- --- --- PASS TAS2R31 259290 broad.mit.edu 37 12 11183530 11183530 + Silent SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:11183530C>A uc001qzo.1 - 1 477 c.405G>T c.(403-405)GGG>GGT p.G135G PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176885 NP_795366 P59538 T2R31_HUMAN taste receptor, type 2, member 31 135 Helical; Name=4; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 ATAGTAAAGGCCCCAACAGCA 0.348 54 44 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20876065 20876065 + Missense_Mutation SNP T G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:20876065T>G uc001rej.3 + 10 1418 c.1063T>G c.(1063-1065)TAC>GAC p.Y355D SLCO1C1_uc010sii.1_Missense_Mutation_p.Y355D|SLCO1C1_uc010sij.1_Missense_Mutation_p.Y306D|SLCO1C1_uc009zip.2_Missense_Mutation_p.Y189D|SLCO1C1_uc001rei.2_Missense_Mutation_p.Y355D|SLCO1C1_uc010sik.1_Missense_Mutation_p.Y237D NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 355 Helical; Name=7; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) AAACCCAGTATACTTCCTATA 0.368 72 25 --- --- --- --- PASS IPO8 10526 broad.mit.edu 37 12 30783889 30783889 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:30783889C>T uc001rjd.2 - 25 3189 c.3019G>A c.(3019-3021)GCA>ACA p.A1007T IPO8_uc001rje.1_3'UTR|IPO8_uc010sjt.1_Missense_Mutation_p.A802T NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 1007 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TTCTTCTTTGCCTCTAGCATT 0.398 40 17 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40745484 40745484 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:40745484C>A uc001rmg.3 + 44 6646 c.6525C>A c.(6523-6525)GAC>GAA p.D2175E LRRK2_uc009zjw.2_Missense_Mutation_p.D1013E|LRRK2_uc001rmi.2_Missense_Mutation_p.D1008E NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2175 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GGCACACCGACAGAGGACAGC 0.388 61 25 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41337799 41337799 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:41337799C>T uc001rmm.1 + 14 1623 c.1510C>T c.(1510-1512)CCT>TCT p.P504S CNTN1_uc009zjy.1_Missense_Mutation_p.P504S|CNTN1_uc001rmn.1_Missense_Mutation_p.P493S|CNTN1_uc001rmo.2_Missense_Mutation_p.P504S NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 504 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ATATATAGATCCTACGCGAAT 0.343 36 12 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54905761 54905761 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:54905761C>T uc001sgc.3 + 9 892 c.813C>T c.(811-813)CTC>CTT p.L271L NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.L221L NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 271 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 ATGGGTGCCTCAACTCCAATA 0.483 61 104 --- --- --- --- PASS USP15 9958 broad.mit.edu 37 12 62785030 62785030 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:62785030G>A uc001src.1 + 16 2063 c.2054G>A c.(2053-2055)GGA>GAA p.G685E USP15_uc001srb.1_Missense_Mutation_p.G656E NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 685 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GATTCAGTTGGAGGAGATAAT 0.393 38 44 --- --- --- --- PASS MGAT4C 25834 broad.mit.edu 37 12 86374004 86374004 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:86374004C>T uc001tai.3 - 8 1750 c.500G>A c.(499-501)GGA>GAA p.G167E MGAT4C_uc001tal.3_Missense_Mutation_p.G167E|MGAT4C_uc001taj.3_Missense_Mutation_p.G167E|MGAT4C_uc001tak.3_Missense_Mutation_p.G167E|MGAT4C_uc010sum.1_Missense_Mutation_p.G191E|MGAT4C_uc001tah.3_Missense_Mutation_p.G167E NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 167 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 CATTAATCTTCCTGCAATAAT 0.398 45 81 --- --- --- --- PASS NTN4 59277 broad.mit.edu 37 12 96104392 96104392 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:96104392C>G uc001tei.2 - 5 1456 c.1007G>C c.(1006-1008)GGG>GCG p.G336A NTN4_uc009ztf.2_Missense_Mutation_p.G336A|NTN4_uc009ztg.2_Missense_Mutation_p.G299A NM_021229 NP_067052 Q9HB63 NET4_HUMAN netrin 4 precursor 336 Laminin EGF-like 2. axon guidance basement membrane|plasma membrane upper_aerodigestive_tract(1)|ovary(1) 2 ATCAGCATGCCCATTACACTT 0.423 60 17 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101520783 101520783 + Missense_Mutation SNP C A A rs139827573 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:101520783C>A uc010svm.1 + 27 3375 c.2803C>A c.(2803-2805)CGT>AGT p.R935S ANO4_uc001thw.2_Missense_Mutation_p.R900S|ANO4_uc001thx.2_Missense_Mutation_p.R935S|ANO4_uc001thy.2_Missense_Mutation_p.R455S NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 935 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 AGAACTGGAACGTCTCCAGAA 0.483 HNSCC(74;0.22) 39 22 --- --- --- --- PASS TBX5 6910 broad.mit.edu 37 12 114793441 114793441 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr12:114793441G>A uc001tvo.2 - 9 1948 c.1453C>T c.(1453-1455)CCT>TCT p.P485S TBX5_uc001tvp.2_Missense_Mutation_p.P485S|TBX5_uc001tvq.2_Missense_Mutation_p.P435S NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 485 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) AGGAACTCAGGGGGCTGAAGG 0.607 101 52 --- --- --- --- PASS RB1 5925 broad.mit.edu 37 13 48916733 48916733 + Splice_Site SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr13:48916733A>G uc001vcb.2 + 3 431 c.265_splice c.e3-2 p.G89_splice RB1_uc010acs.1_Intron 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 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) TTTTGTTCCCAGGGAGGTTAT 0.318 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) 45 11 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67800906 67800906 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr13:67800906G>T uc001vik.2 - 2 2359 c.1667C>A c.(1666-1668)GCG>GAG p.A556E PCDH9_uc001vil.2_Missense_Mutation_p.A556E|PCDH9_uc010thl.1_Missense_Mutation_p.A556E|PCDH9_uc001vin.3_Missense_Mutation_p.A556E NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 556 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AATCACAGCCGCTTGGCTTTG 0.418 168 57 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109777485 109777485 + Silent SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr13:109777485G>A uc001vqt.1 + 30 3621 c.3495G>A c.(3493-3495)CAG>CAA p.Q1165Q MYO16_uc010agk.1_Silent_p.Q1187Q|MYO16_uc010tjh.1_Silent_p.Q677Q NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1165 IQ. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TAGCACGCCAGCACCTGCTTC 0.408 3 65 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20248790 20248790 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:20248790C>T uc010tku.1 + 1 309 c.309C>T c.(307-309)TTC>TTT p.F103F NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGCTCTTCTTCTTACACTTTG 0.458 215 442 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20295820 20295820 + Silent SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:20295820A>G uc010tkv.1 + 1 213 c.213A>G c.(211-213)GCA>GCG p.A71A NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCTGGATGCATCCTACTCCT 0.493 54 537 --- --- --- --- PASS OR11G2 390439 broad.mit.edu 37 14 20666364 20666364 + Nonsense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:20666364C>A uc010tlb.1 + 1 870 c.870C>A c.(868-870)TAC>TAA p.Y290* NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 290 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CACTGTTCTACGGCTCAGTAC 0.348 151 408 --- --- --- --- PASS TEP1 7011 broad.mit.edu 37 14 20854783 20854783 + Splice_Site SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:20854783C>G uc001vxe.2 - 19 2725 c.2685_splice c.e19-1 p.G895_splice TEP1_uc010ahk.2_Splice_Site_p.G245_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.G787_splice NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GCTGCGCCATCTGGGGATAAG 0.577 20 49 --- --- --- --- PASS OR5AU1 390445 broad.mit.edu 37 14 21623814 21623814 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:21623814T>A uc010tlp.1 - 1 371 c.371A>T c.(370-372)TAC>TTC p.Y124F NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, 124 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) CGTGGAGGAGTAGCAGAAATC 0.527 75 78 --- --- --- --- PASS OR5AU1 390445 broad.mit.edu 37 14 21624025 21624025 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:21624025C>A uc010tlp.1 - 1 160 c.160G>T c.(160-162)GGG>TGG p.G54W NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, 54 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) AGGTTTGCCCCTTTCATCCTT 0.547 58 157 --- --- --- --- PASS CDH24 64403 broad.mit.edu 37 14 23521275 23521275 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:23521275C>T uc001wil.2 - 9 1641 c.1381G>A c.(1381-1383)GAA>AAA p.E461K CDH24_uc001wik.3_5'Flank|CDH24_uc010akf.2_Intron NM_022478 NP_071923 Q86UP0 CAD24_HUMAN cadherin-like 24 isoform 1 461 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding central_nervous_system(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CAGCCCCTTTCTGGCCCCCAG 0.592 8 14 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356796 42356796 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:42356796C>G uc001wvm.2 + 3 2166 c.968C>G c.(967-969)CCT>CGT p.P323R LRFN5_uc010ana.2_Missense_Mutation_p.P323R NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 323 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGGATTTCTCCTGAAGGGAAG 0.458 HNSCC(30;0.082) 98 209 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975893 44975893 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:44975893C>T uc001wvn.2 - 1 607 c.298G>A c.(298-300)GAT>AAT p.D100N NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 100 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TCTCTAACATCAGCTGACTTT 0.403 246 262 --- --- --- --- PASS PTGDR 5729 broad.mit.edu 37 14 52735279 52735279 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:52735279C>A uc001wzq.2 + 1 849 c.747C>A c.(745-747)GAC>GAA p.D249E NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 249 Cytoplasmic (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CGCGCGCGGACGGGAGGGAAG 0.667 120 295 --- --- --- --- PASS DDHD1 80821 broad.mit.edu 37 14 53619162 53619162 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:53619162T>A uc001xai.2 - 1 885 c.655A>T c.(655-657)ACG>TCG p.T219S DDHD1_uc001xaj.2_Missense_Mutation_p.T219S|DDHD1_uc001xah.2_Missense_Mutation_p.T219S NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 isoform c 219 lipid catabolic process cytoplasm hydrolase activity|metal ion binding ovary(2) 2 Breast(41;0.037) GCTGGGCCCGTGGGGGAGCAC 0.701 23 52 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65263341 65263341 + Silent SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:65263341C>A uc001xht.2 - 10 1329 c.1275G>T c.(1273-1275)CGG>CGT p.R425R SPTB_uc001xhr.2_Silent_p.R425R|SPTB_uc001xhs.2_Silent_p.R425R|SPTB_uc001xhu.2_Silent_p.R425R NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 425 Spectrin 2. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GGTCAAAGCGCCGGGCCAGTT 0.597 44 144 --- --- --- --- PASS ESRRB 2103 broad.mit.edu 37 14 76906013 76906013 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:76906013G>A uc001xsq.1 + 2 384 c.317G>A c.(316-318)TGC>TAC p.C106Y ESRRB_uc001xsr.2_Missense_Mutation_p.C106Y|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 106 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) TGCCTCGTGTGCGGGGACATT 0.617 37 98 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96777896 96777896 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr14:96777896C>T uc001yfi.2 - 27 4338 c.3973G>A c.(3973-3975)GAT>AAT p.D1325N NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1325 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CCATCAGAATCAGACTTCACT 0.289 5 51 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369109 22369109 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr15:22369109C>T uc010tzu.1 + 1 534 c.534C>T c.(532-534)TTC>TTT p.F178F LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ACAGTTACTTCTGTGACATCA 0.493 26 352 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369110 22369110 + Missense_Mutation SNP T G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr15:22369110T>G uc010tzu.1 + 1 535 c.535T>G c.(535-537)TGT>GGT p.C179G LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CAGTTACTTCTGTGACATCAC 0.493 23 354 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369111 22369111 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr15:22369111G>T uc010tzu.1 + 1 536 c.536G>T c.(535-537)TGT>TTT p.C179F LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) AGTTACTTCTGTGACATCACA 0.488 22 352 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28544607 28544607 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr15:28544607C>A uc001zbj.2 - 3 234 c.128G>T c.(127-129)GGA>GTA p.G43V HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 43 WD 1. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TACAATTTCTCCATCTTTAAC 0.423 100 31 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28544608 28544608 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr15:28544608C>T uc001zbj.2 - 3 233 c.127G>A c.(127-129)GGA>AGA p.G43R HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 43 WD 1. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACAATTTCTCCATCTTTAACC 0.423 98 33 --- --- --- --- PASS MTMR15 22909 broad.mit.edu 37 15 31196869 31196869 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr15:31196869G>A uc001zff.2 + 2 294 c.3G>A c.(1-3)ATG>ATA p.M1I MTMR15_uc001zfc.3_Missense_Mutation_p.M1I|MTMR15_uc010azw.2_Missense_Mutation_p.M1I|MTMR15_uc001zfd.3_Missense_Mutation_p.M1I|MTMR15_uc001zfe.2_5'UTR NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 1 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) TAATACTCATGATGTCAGAAG 0.328 Direct_reversal_of_damage|Editing_and_processing_nucleases 219 75 --- --- --- --- PASS CASC5 57082 broad.mit.edu 37 15 40954333 40954333 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr15:40954333G>T uc010bbs.1 + 27 7137 c.6976G>T c.(6976-6978)GTA>TTA p.V2326L CASC5_uc010bbt.1_Missense_Mutation_p.V2300L NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 2326 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CCTGAAGAATGTAGTCAAGCA 0.368 342 99 --- --- --- --- PASS SLC24A5 283652 broad.mit.edu 37 15 48414135 48414135 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr15:48414135G>T uc001zwe.2 + 2 276 c.203G>T c.(202-204)GGC>GTC p.G68V SLC24A5_uc001zwd.2_Missense_Mutation_p.G68V|SLC24A5_uc010bel.2_Intron NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 68 Helical; Name=1; (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) AGAGATGGAGGCATCATAATC 0.418 140 51 --- --- --- --- PASS ISLR 3671 broad.mit.edu 37 15 74467980 74467980 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr15:74467980G>T uc002axg.1 + 2 1063 c.781G>T c.(781-783)GGG>TGG p.G261W ISLR_uc002axh.1_Missense_Mutation_p.G261W NM_005545 NP_005536 O14498 ISLR_HUMAN immunoglobulin superfamily containing 261 Ig-like. cell adhesion extracellular region large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TGATGTGGACGGGCAGCCGGC 0.647 67 76 --- --- --- --- PASS SIN3A 25942 broad.mit.edu 37 15 75684663 75684663 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr15:75684663C>G uc002bai.2 - 15 3030 c.2771G>C c.(2770-2772)AGA>ACA p.R924T SIN3A_uc002baj.2_Missense_Mutation_p.R924T|SIN3A_uc010uml.1_Missense_Mutation_p.R924T NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 924 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 TTCCCATTCTCTCTCTCGGTT 0.498 88 208 --- --- --- --- PASS SNRNP25 79622 broad.mit.edu 37 16 107122 107122 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:107122C>T uc002cfj.3 + 5 539 c.378C>T c.(376-378)ATC>ATT p.I126I SNRNP25_uc002cfk.3_RNA NM_024571 NP_078847 Q9BV90 SNR25_HUMAN U11/U12 snRNP 25K protein 126 Ubiquitin-like. mRNA processing U12-type spliceosomal complex 0 TTTCCTTCATCAAAAAGCTGA 0.512 66 384 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2153488 2153488 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:2153488G>T uc002cos.1 - 23 8779 c.8570C>A c.(8569-8571)GCC>GAC p.A2857D PKD1_uc002cot.1_Missense_Mutation_p.A2857D|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2857 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CTGGGCGCCGGCCTGTGTCTG 0.627 22 138 --- --- --- --- PASS IL32 9235 broad.mit.edu 37 16 3119009 3119009 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:3119009G>C uc002cto.2 + 6 569 c.358G>C c.(358-360)GAA>CAA p.E120Q IL32_uc002ctk.2_Missense_Mutation_p.E74Q|IL32_uc010uwp.1_Missense_Mutation_p.E54Q|IL32_uc010btb.2_Missense_Mutation_p.E64Q|IL32_uc002ctl.2_Missense_Mutation_p.E74Q|IL32_uc002ctm.2_Missense_Mutation_p.E74Q|IL32_uc002ctn.2_Missense_Mutation_p.E74Q|IL32_uc002cts.3_Missense_Mutation_p.E74Q|IL32_uc002ctp.2_Missense_Mutation_p.E54Q|IL32_uc002ctq.2_Missense_Mutation_p.E120Q|IL32_uc002ctr.2_Missense_Mutation_p.E54Q|IL32_uc002ctt.2_Missense_Mutation_p.E74Q|IL32_uc010uwr.1_Missense_Mutation_p.E34Q|IL32_uc002ctu.2_Missense_Mutation_p.E65Q NM_004221 NP_004212 P24001 IL32_HUMAN interleukin 32 isoform B 120 cell adhesion|defense response|immune response extracellular space cytokine activity pancreas(1) 1 TCCTCTACTTGAAAAAGAAAG 0.582 20 32 --- --- --- --- PASS C16orf71 146562 broad.mit.edu 37 16 4790471 4790471 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:4790471C>T uc002cxn.2 + 4 1056 c.594C>T c.(592-594)GCC>GCT p.A198A NM_139170 NP_631909 Q8IYS4 CP071_HUMAN hypothetical protein LOC146562 198 central_nervous_system(1) 1 ACCGCCGGGCCCTCCGACAGG 0.612 82 39 --- --- --- --- PASS GLYR1 84656 broad.mit.edu 37 16 4882911 4882911 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:4882911G>A uc002cxx.3 - 4 195 c.158C>T c.(157-159)GCC>GTC p.A53V GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_5'UTR|GLYR1_uc002cya.2_Missense_Mutation_p.A53V|GLYR1_uc010uxv.1_Missense_Mutation_p.A53V NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 53 PWWP. pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 TTTGATCCAGGCACTAGCAGA 0.403 95 37 --- --- --- --- PASS EARS2 124454 broad.mit.edu 37 16 23546569 23546569 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:23546569C>T uc002dlt.3 - 4 630 c.598G>A c.(598-600)GAC>AAC p.D200N EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.D200N NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2 precursor 200 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding 0 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) TAGACCAGGTCCTGGAAGGCT 0.627 23 157 --- --- --- --- PASS CD19 930 broad.mit.edu 37 16 28944824 28944824 + Silent SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:28944824C>A uc002drs.2 + 4 891 c.829C>A c.(829-831)CGG>AGG p.R277R uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.R277R NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 277 Extracellular (Potential).|Ig-like C2-type 2. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 GATCACTGCTCGGCCAGGTAG 0.552 4 117 --- --- --- --- PASS ZNF646 9726 broad.mit.edu 37 16 31087665 31087665 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:31087665C>T uc002eap.2 + 2 309 c.20C>T c.(19-21)TCA>TTA p.S7L ZNF668_uc002eao.2_5'Flank NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 ACACCCCCCTCACTCAGCTGC 0.617 28 187 --- --- --- --- PASS ZNF646 9726 broad.mit.edu 37 16 31090223 31090223 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:31090223C>T uc002eap.2 + 2 2867 c.2578C>T c.(2578-2580)CTG>TTG p.L860L NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 860 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 GTTTGACTCTCTGCCTGCCCT 0.627 38 176 --- --- --- --- PASS ZNF646 9726 broad.mit.edu 37 16 31090538 31090538 + Nonsense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:31090538C>T uc002eap.2 + 2 3182 c.2893C>T c.(2893-2895)CAG>TAG p.Q965* NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 965 C2H2-type 17; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CTGCTGTGGTCAGACCTACGA 0.607 15 192 --- --- --- --- PASS ZNF646 9726 broad.mit.edu 37 16 31091162 31091162 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:31091162G>A uc002eap.2 + 2 3806 c.3517G>A c.(3517-3519)GAG>AAG p.E1173K NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 AGAGGTGTGGGAGGAGACCAC 0.617 11 56 --- --- --- --- PASS CDH16 1014 broad.mit.edu 37 16 66949990 66949990 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr16:66949990C>T uc002eql.2 - 5 475 c.402G>A c.(400-402)CGG>CGA p.R134R CDH16_uc010cdy.2_Silent_p.R134R|CDH16_uc002eqm.2_Intron NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 134 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCCGGCTCAGCCGAGCTCTGT 0.567 60 24 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:7577046C>A uc002gim.2 - 8 1086 c.892G>T c.(892-894)GAG>TAG p.E298* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 298 Interaction with HIPK1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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) GGGGGCAGCTCGTGGTGAGGC 0.567 111 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) 164 63 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10348590 10348590 + Silent SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:10348590G>A uc002gmn.2 - 36 5370 c.5259C>T c.(5257-5259)CGC>CGT p.R1753R uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1753 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CCTCTGCATTGCGGGCTTCCT 0.468 307 89 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10427947 10427947 + Nonsense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:10427947C>A uc010coi.2 - 35 5139 c.5011G>T c.(5011-5013)GAG>TAG p.E1671* uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.E1671*|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1671 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTCAGGTCCTCCTGGCTCCGG 0.572 100 50 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10427948 10427948 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:10427948C>A uc010coi.2 - 35 5138 c.5010G>T c.(5008-5010)CAG>CAT p.Q1670H uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Q1670H|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1670 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TCAGGTCCTCCTGGCTCCGGA 0.567 100 49 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21319284 21319284 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:21319284C>T uc002gyv.1 + 3 1335 c.630C>T c.(628-630)TGC>TGT p.C210C NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 210 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GCAAGCTCTGCCTCATGTGGC 0.637 Prostate(3;0.18) 45 84 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29664885 29664885 + Nonsense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:29664885G>T uc002hgg.2 + 44 7024 c.6691G>T c.(6691-6693)GAA>TAA p.E2231* NF1_uc002hgh.2_Nonsense_Mutation_p.E2210*|NF1_uc010cso.2_Nonsense_Mutation_p.E419*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2231 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCAGTGGACAGAACTAGCTCA 0.313 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 38 15 --- --- --- --- PASS SUZ12 23512 broad.mit.edu 37 17 30315405 30315405 + Nonsense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:30315405G>T uc002hgs.2 + 10 1312 c.1090G>T c.(1090-1092)GAG>TAG p.E364* SUZ12_uc002hgt.2_Nonsense_Mutation_p.E341* NM_015355 NP_056170 Q15022 SUZ12_HUMAN joined to JAZF1 364 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) TTGGACAGGAGAGACCAATGA 0.433 T JAZF1 endometrial stromal tumours 158 49 --- --- --- --- PASS FDXR 2232 broad.mit.edu 37 17 72860310 72860310 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:72860310C>A uc002jly.2 - 9 1049 c.962G>T c.(961-963)CGG>CTG p.R321L FDXR_uc010wri.1_Missense_Mutation_p.R269L|FDXR_uc010wrj.1_Missense_Mutation_p.R319L|FDXR_uc002jlw.2_Missense_Mutation_p.R78L|FDXR_uc002jlx.2_Missense_Mutation_p.R327L|FDXR_uc002jmc.2_Missense_Mutation_p.R293L|FDXR_uc010wrk.1_Missense_Mutation_p.R352L|FDXR_uc010wrl.1_Missense_Mutation_p.R364L|FDXR_uc002jma.2_Missense_Mutation_p.R322L|FDXR_uc010wrm.1_Missense_Mutation_p.R281L|FDXR_uc002jlz.2_Missense_Mutation_p.R313L|FDXR_uc002jmb.2_RNA NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 321 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) TGCTGCCCGCCGCCCATCTGG 0.672 74 33 --- --- --- --- PASS CANT1 124583 broad.mit.edu 37 17 76993183 76993183 + Silent SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:76993183A>G uc002jwn.2 - 4 961 c.522T>C c.(520-522)AAT>AAC p.N174N CANT1_uc002jwk.2_Silent_p.N174N|CANT1_uc002jwj.2_Silent_p.N174N|CANT1_uc002jwl.2_RNA|CANT1_uc002jwm.1_5'Flank NM_001159772 NP_001153244 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 174 Lumenal (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity 0 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) AGAGTTTCCCATTGAAAACAA 0.602 T ETV4 prostate 461 153 --- --- --- --- PASS CETN1 1068 broad.mit.edu 37 18 580811 580811 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:580811G>A uc002kko.1 + 1 445 c.403G>A c.(403-405)GAG>AAG p.E135K NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 135 EF-hand 3. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 CGAGCTGGGGGAGAACCTCAC 0.537 45 146 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5395670 5395670 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:5395670T>A uc002kmt.1 - 20 3096 c.3010A>T c.(3010-3012)ATG>TTG p.M1004L EPB41L3_uc010wzh.1_Missense_Mutation_p.M835L|EPB41L3_uc002kmu.1_Missense_Mutation_p.M782L|EPB41L3_uc010dkq.1_Missense_Mutation_p.M673L|EPB41L3_uc002kms.1_Missense_Mutation_p.M239L|EPB41L3_uc010wze.1_Missense_Mutation_p.M309L|EPB41L3_uc010wzf.1_Missense_Mutation_p.M301L|EPB41L3_uc010wzg.1_Missense_Mutation_p.M276L|EPB41L3_uc010dkr.2_Missense_Mutation_p.M396L NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1004 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TGTGCACTCATCAGCACGCCT 0.522 124 279 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5434020 5434020 + Nonsense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:5434020C>A uc002kmt.1 - 7 792 c.706G>T c.(706-708)GAG>TAG p.E236* EPB41L3_uc010wzh.1_Nonsense_Mutation_p.E236*|EPB41L3_uc002kmu.1_Nonsense_Mutation_p.E236*|EPB41L3_uc010dkq.1_Nonsense_Mutation_p.E127*|EPB41L3_uc010dks.1_Nonsense_Mutation_p.E258*|EPB41L3_uc002kmv.1_Nonsense_Mutation_p.E127* NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 236 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity p.E236V(1) ovary(5) 5 TCTCCGAGCTCTGACTGGACA 0.517 129 182 --- --- --- --- PASS CIDEA 1149 broad.mit.edu 37 18 12274250 12274250 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:12274250C>T uc002kqt.3 + 4 554 c.489C>T c.(487-489)TGC>TGT p.C163C CIDEA_uc002kqu.3_Silent_p.C197C|CIDEA_uc010dlc.2_RNA NM_001279 NP_001270 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a isoform 163 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity ovary(1)|central_nervous_system(1) 2 ACATCCGGTGCACGGGACTCA 0.597 81 110 --- --- --- --- PASS MOCOS 55034 broad.mit.edu 37 18 33779713 33779713 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:33779713G>T uc002kzq.3 + 4 390 c.367G>T c.(367-369)GCT>TCT p.A123S NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 123 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) GAGCACGGCTGCTCTCAAACT 0.607 57 73 --- --- --- --- PASS KATNAL2 83473 broad.mit.edu 37 18 44586020 44586020 + Nonsense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:44586020C>T uc002lco.2 + 5 522 c.328C>T c.(328-330)CGA>TGA p.R110* KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Nonsense_Mutation_p.R70* NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 182 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 TGCCCACCCACGAAGAGTAAG 0.383 76 148 --- --- --- --- PASS MBD1 4152 broad.mit.edu 37 18 47800013 47800013 + Missense_Mutation SNP A C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:47800013A>C uc010dow.1 - 12 1804 c.1367T>G c.(1366-1368)CTT>CGT p.L456R MBD1_uc002lef.2_Missense_Mutation_p.L207R|MBD1_uc002leg.2_Missense_Mutation_p.L406R|MBD1_uc010xdi.1_Missense_Mutation_p.L507R|MBD1_uc002leh.3_Missense_Mutation_p.L400R|MBD1_uc002len.2_Missense_Mutation_p.L456R|MBD1_uc002lei.3_Missense_Mutation_p.L456R|MBD1_uc002lej.3_Missense_Mutation_p.L400R|MBD1_uc002lek.3_Missense_Mutation_p.L407R|MBD1_uc002lel.3_Missense_Mutation_p.L433R|MBD1_uc002lem.3_Missense_Mutation_p.L456R|MBD1_uc010xdj.1_Missense_Mutation_p.L400R|MBD1_uc010xdk.1_Missense_Mutation_p.L481R|MBD1_uc010dox.1_Missense_Mutation_p.L433R|MBD1_uc002leo.2_Missense_Mutation_p.L456R NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 456 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TAAAAACACAAGGTCAGTGCC 0.627 68 108 --- --- --- --- PASS MEX3C 51320 broad.mit.edu 37 18 48703429 48703429 + Silent SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:48703429C>A uc002lfc.3 - 2 1272 c.1272G>T c.(1270-1272)GCG>GCT p.A424A NM_016626 NP_057710 Q5U5Q3 MEX3C_HUMAN ring finger and KH domain containing 2 424 cytoplasm|nucleus RNA binding|zinc ion binding p.A424D(1) lung(2)|ovary(1)|skin(1) 4 Colorectal(6;0.003)|all_epithelial(6;0.0473) Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15) AGGAGAGCCACGCAGAGCCAA 0.448 23 75 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67855446 67855446 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:67855446C>T uc002lkp.2 - 10 1271 c.1203G>A c.(1201-1203)GTG>GTA p.V401V RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.V401V NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 401 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CTCTTATTATCACTTGTCTGC 0.328 16 23 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76752199 76752199 + Nonsense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:76752199C>T uc002lmt.2 + 2 208 c.208C>T c.(208-210)CAG>TAG p.Q70* SALL3_uc010dra.2_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 70 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCTGGAGCACCAGCGGAGCTG 0.721 13 21 --- --- --- --- PASS THOP1 7064 broad.mit.edu 37 19 2807757 2807757 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:2807757G>A uc002lwj.2 + 8 1359 c.1204G>A c.(1204-1206)GCG>ACG p.A402T THOP1_uc010xgz.1_Missense_Mutation_p.A281T|THOP1_uc002lwk.2_5'Flank NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 402 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 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) CGCGAGGGACGCGGCCTCGGG 0.726 9 63 --- --- --- --- PASS PIP5K1C 23396 broad.mit.edu 37 19 3641803 3641803 + Nonsense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:3641803G>A uc002lyj.1 - 15 1744 c.1687C>T c.(1687-1689)CAG>TAG p.Q563* PIP5K1C_uc010xhq.1_Nonsense_Mutation_p.Q563*|PIP5K1C_uc010xhr.1_Nonsense_Mutation_p.Q563* NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 563 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GGCTCCTCCTGCGGCCTGCAG 0.637 44 62 --- --- --- --- PASS WIZ 58525 broad.mit.edu 37 19 15538134 15538134 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:15538134C>A uc002nbc.2 - 4 1285 c.1262G>T c.(1261-1263)GGG>GTG p.G421V WIZ_uc002nba.3_Missense_Mutation_p.G288V|WIZ_uc002nbb.3_Missense_Mutation_p.G247V NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1104 Pro-rich. nucleus zinc ion binding 0 TGGGCTTGGCCCTGGTGGGTT 0.652 62 90 --- --- --- --- PASS ZNF85 7639 broad.mit.edu 37 19 21133024 21133024 + Silent SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:21133024T>C uc002npg.3 + 4 1831 c.1704T>C c.(1702-1704)TGT>TGC p.C568C ZNF85_uc010ecn.2_Silent_p.C503C|ZNF85_uc010eco.2_Silent_p.C516C|ZNF85_uc002npi.2_Silent_p.C509C NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 568 C2H2-type 16. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 CTTACAAATGTGAAGAATGTG 0.338 25 35 --- --- --- --- PASS ZNF430 80264 broad.mit.edu 37 19 21240490 21240490 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:21240490G>T uc002npj.2 + 5 1486 c.1376G>T c.(1375-1377)TGT>TTT p.C459F ZNF430_uc002npk.2_Missense_Mutation_p.C458F NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 459 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 CCCTACAAATGTGAAGAATGT 0.393 40 113 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22939415 22939415 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:22939415T>A uc010xrh.1 - 7 2756 c.2756A>T c.(2755-2757)GAA>GTA p.E919V NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GCCACATTCTTCACATTTGTA 0.368 34 5 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22939499 22939499 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:22939499T>A uc010xrh.1 - 7 2672 c.2672A>T c.(2671-2673)GAA>GTA p.E891V NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GCCACATTCTTCACATTTGTA 0.363 8 5 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22939797 22939797 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:22939797A>T uc010xrh.1 - 6 2534 c.2534T>A c.(2533-2535)CTT>CAT p.L845H NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ATGTTTCCTAAGGGCTGAGAA 0.348 45 57 --- --- --- --- PASS ZNF675 171392 broad.mit.edu 37 19 23836845 23836845 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:23836845G>A uc002nri.2 - 4 1072 c.890C>T c.(889-891)TCA>TTA p.S297L NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 297 C2H2-type 6. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AGTAAGATTTGAGAACTGGTT 0.388 39 117 --- --- --- --- PASS ATP4A 495 broad.mit.edu 37 19 36042008 36042008 + Missense_Mutation SNP T G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:36042008T>G uc002oal.1 - 20 2920 c.2891A>C c.(2890-2892)AAG>ACG p.K964T ATP4A_uc010eee.1_Missense_Mutation_p.K122T NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 964 Helical; (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CACCAGGATCTTATTCCTGGG 0.542 14 25 --- --- --- --- PASS ZNF566 84924 broad.mit.edu 37 19 36940084 36940084 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:36940084C>A uc002oea.3 - 5 1134 c.1052G>T c.(1051-1053)GGC>GTC p.G351V ZNF566_uc010xte.1_Missense_Mutation_p.G351V|ZNF566_uc010xtf.1_Missense_Mutation_p.G352V|ZNF566_uc002oeb.3_Missense_Mutation_p.G351V|ZNF566_uc002oec.3_Missense_Mutation_p.G247V|ZNF566_uc010xtg.1_Missense_Mutation_p.G247V NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 351 C2H2-type 5.|C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) AAGGTCTGAGCCAGAACGAAA 0.388 38 59 --- --- --- --- PASS PLEKHG2 64857 broad.mit.edu 37 19 39913469 39913469 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:39913469C>T uc010xuz.1 + 18 2100 c.1775C>T c.(1774-1776)TCA>TTA p.S592L PLEKHG2_uc010xuy.1_Missense_Mutation_p.S533L|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.S370L NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 592 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGGGACTCTTCAGAAGAGGAG 0.602 46 97 --- --- --- --- PASS PRR19 284338 broad.mit.edu 37 19 42813770 42813770 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:42813770C>G uc002oti.2 + 2 412 c.34C>G c.(34-36)CAG>GAG p.Q12E PRR19_uc002oth.1_Missense_Mutation_p.Q12E|PRR19_uc002otj.2_Missense_Mutation_p.Q12E NM_199285 NP_954979 A6NJB7 PRR19_HUMAN proline rich 19 12 0 Prostate(69;0.00682) CCAGCCTTTTCAGCAGCCTGA 0.572 68 346 --- --- --- --- PASS PNMAL1 55228 broad.mit.edu 37 19 46974186 46974186 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:46974186T>A uc002peq.3 - 2 413 c.107A>T c.(106-108)CAG>CTG p.Q36L PNMAL1_uc002per.3_Missense_Mutation_p.Q36L NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 36 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) aatttctgcctgcccacagtc 0.000 62 131 --- --- --- --- PASS ELSPBP1 64100 broad.mit.edu 37 19 48517489 48517489 + Silent SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:48517489C>A uc002pht.2 + 3 287 c.132C>A c.(130-132)ACC>ACA p.T44T NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 precursor 44 Fibronectin type-II 1. single fertilization extracellular region 0 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) TCACTTGCACCCATATTCATA 0.498 155 213 --- --- --- --- PASS KCNJ14 3770 broad.mit.edu 37 19 48967528 48967528 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:48967528G>A uc002pje.1 + 3 1210 c.805G>A c.(805-807)GTG>ATG p.V269M KCNJ14_uc002pjf.1_Missense_Mutation_p.V269M NM_013348 NP_037480 Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel J14 269 Cytoplasmic (By similarity). voltage-gated potassium channel complex inward rectifier potassium channel activity skin(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) TATCTTCCTCGTGTCCCCCAT 0.597 53 76 --- --- --- --- PASS PRR12 57479 broad.mit.edu 37 19 50099158 50099158 + Silent SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:50099158G>A uc002poo.3 + 4 1566 c.1566G>A c.(1564-1566)CAG>CAA p.Q522Q NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCCACTCCCAGGGGCTGCCCA 0.711 19 23 --- --- --- --- PASS TSKS 60385 broad.mit.edu 37 19 50248526 50248526 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:50248526G>C uc002ppm.2 - 7 1131 c.1120C>G c.(1120-1122)CGC>GGC p.R374G NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 374 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCCTGTTCGCGCTGTGCCCGC 0.701 27 50 --- --- --- --- PASS AKT1S1 84335 broad.mit.edu 37 19 50373310 50373310 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:50373310G>A uc002pql.3 - 5 1361 c.635C>T c.(634-636)TCG>TTG p.S212L PNKP_uc002pqh.2_5'Flank|PNKP_uc002pqi.2_5'Flank|PNKP_uc002pqj.2_5'Flank|PNKP_uc010enm.2_5'Flank|PNKP_uc002pqk.2_5'Flank|AKT1S1_uc002pqn.3_Missense_Mutation_p.S212L|AKT1S1_uc002pqm.3_Missense_Mutation_p.S212L NM_032375 NP_115751 Q96B36 AKTS1_HUMAN AKT1 substrate 1 (proline-rich) 212 negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression cytosolic part protein binding 0 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) CAGGTCGGGCGAAGAGGGCTG 0.741 5 14 --- --- --- --- PASS KCNC3 3748 broad.mit.edu 37 19 50831691 50831691 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:50831691C>A uc002pru.1 - 1 944 c.649G>T c.(649-651)GCA>TCA p.A217S NR1H2_uc002prv.3_5'Flank NM_004977 NP_004968 Q14003 KCNC3_HUMAN Shaw-related voltage-gated potassium channel 217 Cytoplasmic (Potential). cell death voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) TGGGCGCCTGCGGCGTTGGCG 0.637 5 9 --- --- --- --- PASS IGLON5 402665 broad.mit.edu 37 19 51826948 51826948 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:51826948C>A uc002pwc.2 + 3 191 c.191C>A c.(190-192)GCC>GAC p.A64D NM_001101372 NP_001094842 A6NGN9 IGLO5_HUMAN IgLON family member 5 precursor 64 Ig-like C2-type 1. extracellular region 0 ACCCGCGTGGCCTGGCTGAAC 0.642 28 65 --- --- --- --- PASS SIGLEC10 89790 broad.mit.edu 37 19 51918657 51918657 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:51918657C>G uc002pwo.2 - 7 1724 c.1108G>C c.(1108-1110)GTA>CTA p.V370L SIGLEC10_uc002pwp.2_Missense_Mutation_p.V312L|SIGLEC10_uc002pwq.2_Missense_Mutation_p.V312L|SIGLEC10_uc002pwr.2_Missense_Mutation_p.V370L|SIGLEC10_uc010ycy.1_Missense_Mutation_p.V280L|SIGLEC10_uc010ycz.1_Missense_Mutation_p.V322L|SIGLEC10_uc010eow.2_Missense_Mutation_p.V182L|SIGLEC10_uc002pws.1_Missense_Mutation_p.V206L NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 370 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CCCTCCAGTACTGGGAGAGAC 0.632 52 135 --- --- --- --- PASS SIGLEC12 89858 broad.mit.edu 37 19 52004682 52004682 + Silent SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:52004682C>T uc002pwx.1 - 1 362 c.306G>A c.(304-306)AAG>AAA p.K102K SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 102 Ig-like V-type 1.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GGGTACAATCCTTGTTCTGTG 0.493 7 561 --- --- --- --- PASS ZNF83 55769 broad.mit.edu 37 19 53117505 53117505 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:53117505C>T uc002pzu.3 - 2 1557 c.313G>A c.(313-315)GGC>AGC p.G105S ZNF83_uc002pzv.3_Missense_Mutation_p.G105S|ZNF83_uc010eps.2_Missense_Mutation_p.G105S|ZNF83_uc010ept.2_Missense_Mutation_p.G105S|ZNF83_uc010epu.2_Missense_Mutation_p.G105S|ZNF83_uc010epv.2_Missense_Mutation_p.G105S|ZNF83_uc010epw.2_Missense_Mutation_p.G105S|ZNF83_uc010epx.2_Missense_Mutation_p.G105S|ZNF83_uc010epy.2_Missense_Mutation_p.G105S|ZNF83_uc010epz.2_Missense_Mutation_p.G105S|ZNF83_uc010eqb.1_Missense_Mutation_p.G105S NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 105 C2H2-type 1; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) AAATGTAAGCCTTGATGAAAG 0.328 23 94 --- --- --- --- PASS TTYH1 57348 broad.mit.edu 37 19 54932556 54932556 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:54932556C>A uc002qfq.2 + 3 503 c.411C>A c.(409-411)GAC>GAA p.D137E TTYH1_uc010yey.1_Missense_Mutation_p.D186E|TTYH1_uc002qfr.2_Missense_Mutation_p.D137E|TTYH1_uc002qft.2_Missense_Mutation_p.D137E|TTYH1_uc002qfu.1_Missense_Mutation_p.D52E NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 137 Extracellular (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) GCACCATTGACCACCTGGTGA 0.602 42 127 --- --- --- --- PASS TTYH1 57348 broad.mit.edu 37 19 54932557 54932557 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:54932557C>T uc002qfq.2 + 3 504 c.412C>T c.(412-414)CAC>TAC p.H138Y TTYH1_uc010yey.1_Missense_Mutation_p.H187Y|TTYH1_uc002qfr.2_Missense_Mutation_p.H138Y|TTYH1_uc002qft.2_Missense_Mutation_p.H138Y|TTYH1_uc002qfu.1_Missense_Mutation_p.H53Y NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 138 Extracellular (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) CACCATTGACCACCTGGTGAG 0.602 42 124 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56539873 56539873 + Silent SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:56539873A>G uc002qmj.2 + 7 2274 c.2274A>G c.(2272-2274)CTA>CTG p.L758L NLRP5_uc002qmi.2_Silent_p.L739L NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 758 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGGTCCCTCTATGGTGAGTAC 0.527 261 429 --- --- --- --- PASS ESF1 51575 broad.mit.edu 37 20 13698128 13698128 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr20:13698128C>T uc002woj.2 - 13 2257 c.2149G>A c.(2149-2151)GAG>AAG p.E717K NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 717 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 TTACTGTCCTCGTCCTCATCC 0.373 82 123 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51870229 51870229 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr20:51870229G>A uc002xwo.2 + 2 1188 c.232G>A c.(232-234)GAT>AAT p.D78N NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 78 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GTCCAATCAGGATGCCGAGAA 0.537 52 115 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51870575 51870575 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr20:51870575G>A uc002xwo.2 + 2 1534 c.578G>A c.(577-579)AGC>AAC p.S193N NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 193 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) AGCCTGTTCAGCTCGGTGCAG 0.572 58 102 --- --- --- --- PASS DYRK1A 1859 broad.mit.edu 37 21 38858871 38858871 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr21:38858871C>G uc002ywk.2 + 5 694 c.619C>G c.(619-621)CTT>GTT p.L207V DYRK1A_uc002ywh.1_Missense_Mutation_p.L169V|DYRK1A_uc002ywi.2_Missense_Mutation_p.L207V|DYRK1A_uc002ywj.2_Missense_Mutation_p.L198V|DYRK1A_uc002ywl.2_Missense_Mutation_p.L207V|DYRK1A_uc002ywm.2_Missense_Mutation_p.L207V|DYRK1A_uc011aei.1_5'Flank NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 207 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 AGTGCGACTTCTTGAGCTCAT 0.403 11 35 --- --- --- --- PASS KRTAP10-8 386681 broad.mit.edu 37 21 46032670 46032670 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr21:46032670G>A uc002zfo.1 + 1 675 c.653G>A c.(652-654)CGG>CAG p.R218Q C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN keratin associated protein 10-8 218 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|breast(1) 2 cctgtgtgccggcctgcctgc 0.264 5 320 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23264871 23264871 + RNA SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr22:23264871G>A uc011aim.1 + 379 c.16692G>A Parts of antibodies, mostly variable regions. 0 TTCTACCCGGGAGCCGTGACA 0.597 29 65 --- --- --- --- PASS PLA2G3 50487 broad.mit.edu 37 22 31533955 31533955 + Silent SNP G T T rs142651583 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr22:31533955G>T uc003aka.2 - 4 936 c.807C>A c.(805-807)CCC>CCA p.P269P NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III precursor 269 Phospholipase A2-like. cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity 0 GGCGAGCGAGGGGCACTGTGC 0.652 83 128 --- --- --- --- PASS EIF4ENIF1 56478 broad.mit.edu 37 22 31859726 31859726 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr22:31859726C>A uc003akz.1 - 5 690 c.526G>T c.(526-528)GAC>TAC p.D176Y EIF4ENIF1_uc003ala.1_Missense_Mutation_p.D176Y|EIF4ENIF1_uc003alb.1_Intron NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 176 Arg-rich. nucleus protein binding|protein transporter activity ovary(1) 1 TCCCGCAGGTCCTTATCGCTA 0.433 81 116 --- --- --- --- PASS CSF2RB 1439 broad.mit.edu 37 22 37325795 37325795 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr22:37325795C>A uc003aqa.3 + 6 881 c.664C>A c.(664-666)CTC>ATC p.L222I CSF2RB_uc003aqc.3_Missense_Mutation_p.L222I NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 222 Fibronectin type-III 1.|Extracellular (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) AGGTTCTCGGCTCTCAGGACG 0.667 40 64 --- --- --- --- PASS SSTR3 6753 broad.mit.edu 37 22 37603375 37603375 + Silent SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr22:37603375T>A uc003ara.2 - 2 530 c.468A>T c.(466-468)ACA>ACT p.T156T SSTR3_uc003arb.2_Silent_p.T156T NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 156 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 CCACCGGAGCTGTGCGCCAGC 0.672 94 132 --- --- --- --- PASS SCUBE1 80274 broad.mit.edu 37 22 43600112 43600112 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr22:43600112G>A uc003bdt.1 - 22 2946 c.2858C>T c.(2857-2859)CCC>CTC p.P953L NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 953 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) GTAGTTCTGGGGATGCGCCAG 0.582 103 195 --- --- --- --- PASS KAL1 3730 broad.mit.edu 37 X 8501094 8501094 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:8501094C>A uc004csf.2 - 14 2135 c.1985G>T c.(1984-1986)AGA>ATA p.R662I NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 662 axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 AAGATGAGATCCTAAAAAGTG 0.338 20 53 --- --- --- --- PASS FAM48B1 100130302 broad.mit.edu 37 X 24381382 24381382 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:24381382C>G uc011mjx.1 + 1 505 c.505C>G c.(505-507)CCA>GCA p.P169A NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 TCTTCTACGTCCAACGATGCA 0.458 24 787 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29973391 29973391 + Silent SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:29973391G>T uc004dby.2 + 11 2053 c.1545G>T c.(1543-1545)CTG>CTT p.L515L NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 515 Cytoplasmic (Potential).|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GCAGTGAACTGAGAGGAATTA 0.438 7 171 --- --- --- --- PASS NR0B1 190 broad.mit.edu 37 X 30327185 30327185 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:30327185G>T uc004dcf.3 - 1 311 c.296C>A c.(295-297)GCG>GAG p.A99E NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 99 4 X 67 AA tandem repeats.|2. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) ACCCAGCGTCGCCTCGGGCGC 0.682 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 167 --- --- --- --- PASS GK 2710 broad.mit.edu 37 X 30739016 30739016 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:30739016G>A uc004dch.3 + 18 1584 c.1405G>A c.(1405-1407)GCA>ACA p.A469T GK_uc010ngj.2_Missense_Mutation_p.A463T|GK_uc004dci.3_Missense_Mutation_p.A463T|GK_uc011mjz.1_Missense_Mutation_p.A264T|GK_uc011mka.1_Missense_Mutation_p.A306T|GK_uc010ngk.2_Missense_Mutation_p.A258T NM_203391 NP_976325 P32189 GLPK_HUMAN glycerol kinase isoform a 469 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1) 1 GGCTATGGCGGCAGGGGCTGC 0.542 4 66 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32383289 32383289 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:32383289T>C uc004dda.1 - 35 5117 c.4873A>G c.(4873-4875)AAG>GAG p.K1625E DMD_uc004dcw.2_Missense_Mutation_p.K281E|DMD_uc004dcx.2_Missense_Mutation_p.K284E|DMD_uc004dcz.2_Missense_Mutation_p.K1502E|DMD_uc004dcy.1_Missense_Mutation_p.K1621E|DMD_uc004ddb.1_Missense_Mutation_p.K1617E|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1625 Spectrin 11.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGGTGCACCTTCTGTTTCTCA 0.408 5 118 --- --- --- --- PASS CXorf22 170063 broad.mit.edu 37 X 35993797 35993797 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:35993797C>A uc004ddj.2 + 15 2539 c.2480C>A c.(2479-2481)ACC>AAC p.T827N CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 827 large_intestine(1)|lung(1)|ovary(1) 3 AGGTCTTTCACCTTTACAGTG 0.383 4 214 --- --- --- --- PASS SRPX 8406 broad.mit.edu 37 X 38020265 38020265 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:38020265T>A uc004ddy.1 - 6 782 c.696A>T c.(694-696)GAA>GAT p.E232D SRPX_uc004ddz.1_Missense_Mutation_p.E212D|SRPX_uc011mkh.1_Missense_Mutation_p.E173D|SRPX_uc011mki.1_Missense_Mutation_p.E232D NM_006307 NP_006298 P78539 SRPX_HUMAN sushi-repeat-containing protein, X-linked 232 HYR. cell adhesion cell surface|membrane 0 TGTGGTCTCCTTCTGGAAAGT 0.423 10 237 --- --- --- --- PASS SSX7 280658 broad.mit.edu 37 X 52681327 52681327 + Silent SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:52681327A>G uc004dqx.1 - 4 414 c.255T>C c.(253-255)GAT>GAC p.D85D NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding skin(1) 1 Ovarian(276;0.236) TACGGTCATTATCAAAATCAT 0.488 184 105 --- --- --- --- PASS XAGE5 170627 broad.mit.edu 37 X 52841664 52841664 + Splice_Site SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:52841664T>C uc004drd.1 + 2 137 c.72_splice c.e2+2 p.L24_splice NM_130775 NP_570131 Q8WWM1 GAGD5_HUMAN X antigen family, member 5 ovary(1) 1 CCTATGCTTGTGAGTGACTTC 0.383 14 270 --- --- --- --- PASS SMC1A 8243 broad.mit.edu 37 X 53439033 53439033 + Missense_Mutation SNP G A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:53439033G>A uc004dsg.2 - 6 1094 c.1025C>T c.(1024-1026)TCA>TTA p.S342L SMC1A_uc011moe.1_Missense_Mutation_p.S320L|SMC1A_uc011mof.1_Intron NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 342 Potential. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 CTTCTCCACTGACAGCATCTC 0.498 12 52 --- --- --- --- PASS USP51 158880 broad.mit.edu 37 X 55513249 55513249 + Silent SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:55513249T>C uc004dun.1 - 2 2203 c.2124A>G c.(2122-2124)CTA>CTG p.L708L USP51_uc011moo.1_Silent_p.L412L NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 708 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 AGTCTTTCTCTAGACCCTGTT 0.413 70 33 --- --- --- --- PASS NLGN3 54413 broad.mit.edu 37 X 70389333 70389333 + Missense_Mutation SNP A G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:70389333A>G uc004dzb.2 + 7 2177 c.1873A>G c.(1873-1875)ACC>GCC p.T625A NLGN3_uc004dzc.2_Missense_Mutation_p.T508A|NLGN3_uc011mps.1_Missense_Mutation_p.T605A|NLGN3_uc004dze.2_Missense_Mutation_p.T443A NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 645 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) GTCCACCACCACCAAAGTGCC 0.582 42 36 --- --- --- --- PASS NAP1L2 4674 broad.mit.edu 37 X 72433380 72433380 + Missense_Mutation SNP G C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:72433380G>C uc004ebi.2 - 1 1305 c.949C>G c.(949-951)CCC>GCC p.P317A NAP1L2_uc011mqj.1_Missense_Mutation_p.P175A NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 317 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) TAGGGATGGGGATCATAATAT 0.378 12 286 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73042994 73042994 + RNA SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:73042994A>T uc004ebn.2 + 1 c.30955A>T XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 TAATAAAAGCAGAATGTTTAG 0.358 11 2 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73043403 73043403 + RNA SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:73043403T>C uc004ebn.2 + 1 c.31364T>C XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 CTGAGGCATTTATTTTTACTC 0.289 41 18 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76854945 76854945 + Missense_Mutation SNP C G G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:76854945C>G uc004ecp.3 - 25 6123 c.5891G>C c.(5890-5892)GGA>GCA p.G1964A ATRX_uc004ecq.3_Missense_Mutation_p.G1926A|ATRX_uc004eco.3_Missense_Mutation_p.G1749A NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1964 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTCACCACCTCCCCGAGATCT 0.388 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 20 372 --- --- --- --- PASS GPR174 84636 broad.mit.edu 37 X 78427277 78427277 + Missense_Mutation SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:78427277C>A uc004edg.1 + 1 809 c.773C>A c.(772-774)TCC>TAC p.S258Y NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 258 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 CTGGTGAAGTCCAATGAAATT 0.388 HNSCC(63;0.18) 6 116 --- --- --- --- PASS GPR174 84636 broad.mit.edu 37 X 78427278 78427278 + Silent SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:78427278C>A uc004edg.1 + 1 810 c.774C>A c.(772-774)TCC>TCA p.S258S NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 258 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 TGGTGAAGTCCAATGAAATTA 0.388 HNSCC(63;0.18) 7 116 --- --- --- --- PASS DRP2 1821 broad.mit.edu 37 X 100505427 100505427 + Missense_Mutation SNP T C C TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:100505427T>C uc004egz.2 + 15 1925 c.1556T>C c.(1555-1557)GTG>GCG p.V519A DRP2_uc011mrh.1_Missense_Mutation_p.V441A NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 519 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 TTCAGCCAAGTGGCCAACTCA 0.587 154 65 --- --- --- --- PASS ARMCX5 64860 broad.mit.edu 37 X 101857704 101857704 + Missense_Mutation SNP A T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:101857704A>T uc004ejg.2 + 6 1516 c.635A>T c.(634-636)AAA>ATA p.K212I ARMCX5_uc004ejh.2_Missense_Mutation_p.K212I NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 212 binding ovary(1) 1 CCCACACACAAACCCACACTT 0.478 10 215 --- --- --- --- PASS GLRA4 441509 broad.mit.edu 37 X 102974010 102974010 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:102974010G>T uc011mse.1 - 7 1329 c.908C>A c.(907-909)TCT>TAT p.S303Y GLRA4_uc010nou.2_Missense_Mutation_p.S303Y NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 303 Cytoplasmic (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 CCGGGAGCCAGAGCTCTGGGT 0.582 18 296 --- --- --- --- PASS PLP1 5354 broad.mit.edu 37 X 103043405 103043405 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:103043405G>T uc010nov.2 + 6 942 c.662G>T c.(661-663)GGC>GTC p.G221V RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.G221V|PLP1_uc004elj.2_Missense_Mutation_p.G186V|PLP1_uc011msf.1_Missense_Mutation_p.G166V|PLP1_uc010nox.2_Missense_Mutation_p.G175V NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 221 Extracellular (Probable). G -> C (in HLD1). cell death|synaptic transmission integral to membrane ovary(1) 1 AAGGTTTGTGGCTCCAACCTT 0.463 390 210 --- --- --- --- PASS MORC4 79710 broad.mit.edu 37 X 106185171 106185171 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:106185171T>A uc004emu.3 - 16 2900 c.2657A>T c.(2656-2658)GAA>GTA p.E886V MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Intron|MORC4_uc004emw.3_Intron NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 886 ATP binding|zinc ion binding ovary(1) 1 AATTAACCTTTCTAGGTCATC 0.478 12 169 --- --- --- --- PASS MID2 11043 broad.mit.edu 37 X 107169340 107169340 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:107169340G>T uc004enl.2 + 9 2187 c.1614G>T c.(1612-1614)TTG>TTT p.L538F MID2_uc004enk.2_Missense_Mutation_p.L508F NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 538 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 CCTTTAAATTGGATCCCAAAA 0.383 9 177 --- --- --- --- PASS HTR2C 3358 broad.mit.edu 37 X 113961348 113961348 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:113961348G>T uc004epu.1 + 3 731 c.3G>T c.(1-3)ATG>ATT p.M1I HTR2C_uc010nqc.1_Missense_Mutation_p.M1I|HTR2C_uc004epv.1_Missense_Mutation_p.M1I NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 1 Extracellular (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) AAGCAATCATGGTGAACCTGA 0.368 13 7 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117773511 117773511 + Missense_Mutation SNP G T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:117773511G>T uc004eqp.2 + 38 4178 c.4115G>T c.(4114-4116)AGC>ATC p.S1372I DOCK11_uc004eqq.2_Missense_Mutation_p.S1151I NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1372 blood coagulation cytosol GTP binding ovary(3) 3 CATCTTAGTAGCCTAGAAAGT 0.393 68 32 --- --- --- --- PASS RHOXF1 158800 broad.mit.edu 37 X 119249579 119249579 + Missense_Mutation SNP C T T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:119249579C>T uc004esk.1 - 1 269 c.194G>A c.(193-195)GGC>GAC p.G65D uc004esi.1_Intron NM_139282 NP_644811 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 65 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGGGATCATGCCGCCATCGCG 0.687 5 161 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123870869 123870869 + Silent SNP C A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:123870869C>A uc004euj.2 - 4 778 c.714G>T c.(712-714)ACG>ACT p.T238T ODZ1_uc011muj.1_Silent_p.T238T|ODZ1_uc010nqy.2_Silent_p.T238T NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 238 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CTGAATCCTGCGTGCTGGTTG 0.542 19 540 --- --- --- --- PASS SMARCA1 6594 broad.mit.edu 37 X 128623054 128623054 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:128623054T>A uc004eun.3 - 16 2070 c.1957A>T c.(1957-1959)ATT>TTT p.I653F SMARCA1_uc004eup.3_Missense_Mutation_p.I641F|SMARCA1_uc011muk.1_Missense_Mutation_p.I653F|SMARCA1_uc011mul.1_Missense_Mutation_p.I641F NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 653 Helicase C-terminal. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 TGTTGGTCAATGAGTCTTCCT 0.348 3 59 --- --- --- --- PASS MAGEA6 4105 broad.mit.edu 37 X 151870167 151870167 + Missense_Mutation SNP T A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chrX:151870167T>A uc004ffq.1 + 3 1051 c.857T>A c.(856-858)GTC>GAC p.V286D MAGEA6_uc004ffr.1_Missense_Mutation_p.V286D|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 286 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) TATGTGAAAGTCCTGCACCAT 0.542 320 146 --- --- --- --- PASS KLHL32 114792 broad.mit.edu 37 6 97512545 97512545 + Frame_Shift_Del DEL G - - rs138548618 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr6:97512545delG uc010kcm.1 + 5 826 c.354delG c.(352-354)GCGfs p.A118fs KLHL32_uc003poy.2_Frame_Shift_Del_p.A118fs|KLHL32_uc011ead.1_Frame_Shift_Del_p.A82fs|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_RNA NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 118 ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TGCTAGCAGCGGGCAGTCACC 0.423 62 31 --- --- --- --- DPY19L2P4 442523 broad.mit.edu 37 7 89748927 89748928 + RNA INS - C C rs148487888 by1000genomes TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr7:89748927_89748928insC uc003ujw.1 + 1 c.214_215insC NR_003551 Homo sapiens dpy-19-like 2 pseudogene 4 (C. elegans), mRNA (cDNA clone IMAGE:5295327). 0 GGTGCGGGCCTCCCCCTTCCCC 0.639 7 7 --- --- --- --- PNMA2 10687 broad.mit.edu 37 8 26365632 26365632 + Frame_Shift_Del DEL C - - TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr8:26365632delC uc003xez.2 - 3 1410 c.640delG c.(640-642)GCCfs p.A214fs NM_007257 NP_009188 Q9UL42 PNMA2_HUMAN paraneoplastic antigen MA2 214 apoptosis nucleolus protein binding 0 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) aggtccagggcagggccccgc 0.000 109 128 --- --- --- --- CYP2C19 1557 broad.mit.edu 37 10 96612635 96612635 + Frame_Shift_Del DEL C - - TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr10:96612635delC uc010qnz.1 + 9 1437 c.1437delC c.(1435-1437)GTCfs p.V479fs CYP2C19_uc010qny.1_Frame_Shift_Del_p.V457fs NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 479 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTGCTTCTGTCCCGCCCTTCT 0.463 61 114 --- --- --- --- APLNR 187 broad.mit.edu 37 11 57004147 57004147 + Frame_Shift_Del DEL A - - TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr11:57004147delA uc001njo.2 - 1 781 c.332delT c.(331-333)GTCfs p.V111fs APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 111 Helical; Name=3; (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 GTACATGTTGACGAAGATGAG 0.612 17 48 --- --- --- --- USP22 23326 broad.mit.edu 37 17 20907656 20907657 + Frame_Shift_Del DEL AG - - TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:20907656_20907657delAG uc002gym.3 - 12 1597_1598 c.1393_1394delCT c.(1393-1395)CTGfs p.L465fs USP22_uc002gyn.3_Frame_Shift_Del_p.L453fs|USP22_uc002gyl.3_Frame_Shift_Del_p.L360fs NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN ubiquitin thiolesterase 22 465 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 AACAGCAAACAGGGAATACCTA 0.545 50 180 --- --- --- --- ABCA9 10350 broad.mit.edu 37 17 67022584 67022585 + Frame_Shift_Ins INS - A A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr17:67022584_67022585insA uc002jhu.2 - 16 2217_2218 c.2074_2075insT c.(2074-2076)GGGfs p.G692fs ABCA9_uc010dez.2_Frame_Shift_Ins_p.G692fs NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 692 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CTTCAGCTTCCCATTGGATATG 0.381 107 284 --- --- --- --- MBD1 4152 broad.mit.edu 37 18 47799999 47799999 + Frame_Shift_Del DEL C - - TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:47799999delC uc010dow.1 - 12 1818 c.1381delG c.(1381-1383)GAAfs p.E461fs MBD1_uc002lef.2_Frame_Shift_Del_p.E212fs|MBD1_uc002leg.2_Frame_Shift_Del_p.E411fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.E512fs|MBD1_uc002leh.3_Frame_Shift_Del_p.E405fs|MBD1_uc002len.2_Frame_Shift_Del_p.E461fs|MBD1_uc002lei.3_Frame_Shift_Del_p.E461fs|MBD1_uc002lej.3_Frame_Shift_Del_p.E405fs|MBD1_uc002lek.3_Frame_Shift_Del_p.E412fs|MBD1_uc002lel.3_Frame_Shift_Del_p.E438fs|MBD1_uc002lem.3_Frame_Shift_Del_p.E461fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.E405fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.E486fs|MBD1_uc010dox.1_Frame_Shift_Del_p.E438fs|MBD1_uc002leo.2_Frame_Shift_Del_p.E461fs NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 461 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CTTGCGCCTTCCCGTAAAAAC 0.632 112 69 --- --- --- --- GALR1 2587 broad.mit.edu 37 18 74980742 74980742 + Frame_Shift_Del DEL A - - TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr18:74980742delA uc002lms.3 + 3 1431 c.934delA c.(934-936)AAGfs p.K312fs NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 312 Cytoplasmic (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) AAATTTCAGGAAGGCCTATAA 0.443 131 76 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47879705 47879705 + Frame_Shift_Del DEL C - - TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr19:47879705delC uc010xyn.1 + 12 2828 c.2487delC c.(2485-2487)TTCfs p.F829fs DHX34_uc010xyo.1_5'Flank NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 829 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CGCAGATTTTCCACACGCAGG 0.547 47 23 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG - - rs5839847 TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 52b8c7c1-2cfe-410d-a738-1dec43109e24 a2f81c91-c632-4d91-8ef0-97592e267307 g.chr20:278688_278690delCGG uc002wdf.2 + 1 485_487 c.461_463delCGG c.(460-465)CCGGCG>CCG p.A158del ZCCHC3_uc002wdg.2_Intron NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 158 Poly-Ala. 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) CAGGATGAgccggcggcggcggc 0.635 3 3 --- --- --- ---